8,508 research outputs found
Strategies for controlling rates of inbreeding in MOET nucleus schemes for beef cattle
No full textA closed MOET (multiple ovulation and embryo transfer) nucleus scheme, with overlapping generations, was modelled for beef cattle by stochastic simulation. Selection was carried out for 25 years on a trait measurable in both sexes and with a heritability of 0.35. Different strategies to control the fate of inbreeding were investigated: 1) decreasing female selection intensity whilst keeping the number of donors constant; 2) culling selected animals after having been used for a period of time; 3) using more donors; 4) using factorial mating designs; and 5) selecting on modified indexes. Comparisons among different schemes were made on the basis of equal number of transfers per year. Strategies 1, 2, and 3 reduced inbreeding but also reduced response. When the schemes were compared at the same level of inbreeding, culling of animals gave higher rates of genetic progress than decreasing selection intensity. Factorial designs decreased the rate of inbreeding by up to 19% in comparison with nested designs, with no effect on response. The most successful strategies were those that reduced the emphasis on family information in the selection criterion and especially selection on estimated breeding values obtained by BLUP (best linear unbiased prediction) using a deliberately increased heritability. With this method, it was possible to reduce inbreeding by up to 30% without affecting genetic progress. The reduction in inbreeding with different raised heritabilities averaged 42% and ranged from 26 to 61%. Under all the strategies studied to control inbreeding, proportional reductions in rates of inbreeding were always higher than those in genetic response
Isolation and characterisation of chlorate resistant mutants of barley
No full textThe object of this study has been to characterise barley mutants which
lack the functional nitrate reductase (NR) enzyme system. In the long
term it is hoped that such studies will lead to improved nitrate
utilisation and ultimately to improved quality barley protein. The
progeny of nine chlorate resistant selections, in the barley cultivars
Mavis Mink and Golden Promise, were studied. Four (R9201, R11301,
R12202 and R12801) lacked NADH-NR and FMNH2-NR activities, the rest had
the NR+ phenotype. None of the four were nitrate uptake mutants since
they all possesed wild type or greater levels of nitrate. R9201,
R11301 and the previously characterised R9401 (Bright et al, 1983) were
not molybdenum uptake or Mo-accumulation mutants.
R9201, R11301 and R12202 lacked xanthine dehydrogenase (XDH) (an enzyme
which contains the same molybdenum-containing cofactor, MoCo) activity
suggesting that these lines have defective MoCo's, whilst R12801
possessed XDH activity indicating that it might have defective
apoprotein subunits.
These four lines are similar to R9401 since they lack "NR activity and
are unlike other previously selected ' barley NR mutants (Kleinhofs ' et
al, 1980) which are leaky and possess up to 5% of the wild type (cv.
Steptoe) in vitro NR activity.
R9201 and R11301, like R9401, were all caused by single recessive
nuclear gene mutations.
The MoCo mutants, R9201, R9401, R11301 and R12202, could be divided
into two groups on the basis of i) allelism, ii) presence or absence of
wild type levels of dimeric NR and iii) the ability of their extracted
MoCo's to reconstitute NADPH-NR in an extract of N. crassa nitl mutant
(which supplies NR monomers) in the presence of excess molybdate.
R11301 is not allelic to R9201, whilst R9201 and R9401 are allelic.
R9401 is also thought to be allelic to Az 34, a barley MoCo mutant
isolated and characterised by Kleinhofs et al (1980). Az 34 has been
designated nar2a and it is proposed that the allelic R9401 and R9201
should be classified as nar2b and nar2c respectively. It is possible
that R11301 is either allelic with one of the other barley MoCo lines,
nar3, nar4 or it is defective in a different MoCo gene. The same is
also true for R12202.
R11301 was shown to possess inactive NR dimer at wild type
concentrations, whilst R9201, R9401 and R12202 had little or no NR
(inactive dimer) present under these conditions. R12801 possessed no
dimer.
The MoCo extracted from R11301 was able to reconstitute the same level
of NADPH-NR in the Hill extract as MoCo extracted from-the wild types.
R9201, R9401 and R12202 lacked this ability
Cavernous Angioma
No full textUnilateral Internuclear Ophthalmoplegia; Unilateral Horizontal Gaze Palsy; Upbeat Nystagmus on Upgaze; Convergence Normal; Pendular Vertical OscillationsDiplopiaThe patient is a 19 year old sophomore who presented in 1983 with numbness of the left hand, involving initially just the fingers, and numbness and weakness of the right side of the face. He described the numbness in his hand as if it was "intensely asleep". The facial numbness involved the perioral region. Over the next five days, prior to admission (PTA), the numbness spread to involve the whole left side of his body, and extended over a greater area of the right face to involve the cheek and right side of his tongue. One day PTA, he developed a mild occipital headache and unsteadiness standing and walking. He was admitted to an outside hospital. Brain CT: The scan revealed a mass lesion in the region of the fourth ventricle which was thought to represent a brain tumor. He was transferred and admitted to the Massachusetts General Hospital. Ocular Motility on arrival: Primary position upbeat nystagmus Rotary clockwise nystagmus on gaze left Horizontal gaze evoked nystagmus on gaze right Primary position upbeat nystagmus was attributable to a lesion(s) in the region of the nucleus intercalatus and the nucleus of Roller in the perihypoglossal area of the caudal medulla. Neurological examination showed: Right lower motor neuron facial palsy (Bell\u27s palsy) Athetoid movements of the fingers of the left hand Pronator drift of the left arm Left upper extremity ataxia on finger-nose-finger No gait ataxia Left hemisensory loss Brain CT: Right pontomedullary hemorrhage. Vertebral angiogram with angiotomography: No evidence of a vascular malformation. Suboccipital Craniectomy: On October 14, 1983 a Suboccipital Craniectomy was performed. A right pontine hemorrhage was drained. Ocular motility post-operatively: • Right internuclear ophthalmoplegia with adduction weakness OD • Abducting nystagmus OS • Right horizontal gaze palsy • Upbeating nystagmus on upgaze • Full vertical gaze • Normal convergence • Right Bell\u27s palsy This constellation of signs added up to the Fisher\u27s one-and-a-half syndrome. Between 1983 and 1989 the patient had three further small bleeds in the unilateral pontine lesion. In 1986, he developed a right sixth nerve palsy and was readmitted to the MGH. Brain CT: Right pontine hematoma ventral to the floor of the fourth ventricle. In 1988, he was again readmitted with progressive ataxia of the left extremities. He also noted that movement, even passively, such as riding in the car resulted in a sensation of disequilibrium. Brain MRI: T1 and T2 weighted images in the axial and sagittal plane showed an arteriovenous malformation (AVM) in the pons with slight extension into the inferior aspect of the midbrain on the right side. The mass had faint increased density in the T1 and T2 weighted images in keeping with methemoglobin due to recent hemorrhage and was surrounded by areas of decreased density due to hemosiderin. The AVM, diagnosed as a cavernous angioma, produced no mass effect and the floor of the fourth ventricle was not elevated. The aqueduct was not compressed. (Figures 1 and 2) Therapy: The patient was seen by Dr. Raymond Adams who found all the neurological deficits pointed to a high pontine tegmental lesion. Dr. Adams explained to Robert that he had seen patients who had had as many as 15 bleeds without major destruction of nervous tissue and that the bleed was a venous leak with seepage of blood and not an arterial bleed. Dr. Adams recommended focal proton beam therapy. Dr. Raymond Kjellberg treated Robert with stereotactic Bragg Peak proton beam therapy. A total dose of 1,700 rads was delivered by two portals, one on each side of the head, each portal having three laminated divisions. A 19 mm beam was used. Inspite of radiation treatment, the patient continued to have recurrent bleeds and after his eleventh bleed in 1999 he developed a bilateral horizontal gaze palsy and pendular vertical oscillations, but no palatal tremor.I had the opportunity to film Robert on two occasions. In 1983, post-operatively, he had: • Right internuclear ophthalmoplegia with adduction weakness OD • Abducting nystagmus OS • Right horizontal gaze palsy • Upbeating nystagmus on upgaze • Full vertical gaze • Normal convergence • Right Bell\u27s palsy Five years later, in 1988, he had: • A partial right internuclear ophthalmoplegia with weakness of adduction of the right eye with nystagmus • Abducting nystagmus OS • Impaired abduction OD due to a right sixth nerve palsy • Weakness of adduction OS on gaze right with gaze evoked nystagmus (consistent with a right horizontal gaze palsy) • Upbeat nystagmus on upgaze • Full vertical gaze • Normal pursuit eye movements • No facial weakness The video also shows confirmation of a paralytic esotropia of the right eye by the demonstration of abduction weakness when the right eye fixes alone.1989 Brain MRI studies are shown at the end of the video clip.The one-and-a-half syndrome first described by Fisher in 1967 is characterized by, on horizontal gaze: 1. An ipsilateral gaze paresis or palsy 2. An INO on contralateral gaze 3. At rest, an exotropia of the eye contralateral to the lesion in the acute phase, or no deviation at rest, or less commonly, an esotropia of the eye ipsilateral to the lesion resulting from paresis of the sixth nerve. Horizontal gaze palsy. There are four theoretical possibilities to account for the ipsilateral horizontal gaze palsy. It may be due to a single unilateral lesion affecting: 1. The ipsilateral paramedial pontine reticular formation (PPRF) only 2. The ipsilateral abducens nucleus alone 3. Both the ipsilateral paramedial pontine reticular formation (PPRF) and the abducens nucleus, or, when two lesions are involved 4. The motoneuron root fibers of the ipsilateral abducens nucleus to the lateral rectus and the contralateral medial longitudinal fasciculus (MLF). Paramedial pontine reticular formation. The medial portions of the nucleus reticularis magnocellularis (or nucleus centralis pontis oralis and caudalis) have been designated the "paramedian pontine reticular formation" (PPRF), rostral to the abducens nucleus. The region extends from the abducens nucleus in a rostral direction toward the brachium conjunctivum and trochlear nucleus. It has been defined functionally because there are no distinct histologic boundaries. But anatomically, Graybiel, Büttner-Ennever, and Grantyn et al all showed inputs from discrete areas. Clinical findings with PPRF lesion: • Loss of horizontal saccades towards the side of the lesion • Contralateral gaze deviation, in acute phase • Gaze-evoked nystagmus on looking contralateral to the lesion • Impaired smooth pursuit and vestibular eye movements may be preserved or impaired • Bilateral lesions cause total horizontal gaze palsy and slowing of vertical saccades Abducens nucleus. The abducens nucleus contains typical motoneurons that give rise to root fibers that innervate the lateral rectus as well as internuclear neurons whose axons cross the midline and ascend via the contralateral MLF to the medial rectus subnucleus in the contralateral oculomotor (third nerve) nucleus. This projection is the main excitatory input to medial rectus motoneurons in lateral gaze. An old clinicopathologic case published by Bennett and Savill (1) described a unilateral gaze palsy with an associated "patch of softening" in the abducens nucleus without apparent involvement of neighboring structures. Clinical findings with lesion of the abducens nuclei • Loss of all conjugate movements towards the side of the lesion - "ipsilateral, horizontal gaze palsy" • Contralateral gaze deviation, in acute phase • Vergence and vertical movements are spared • In the intact hemifield of gaze, horizontal movements may be preserved, but ipsilaterally directed saccades are slow • Horizontal gaze-evoked nystagmus on looking contralaterally • Ipsilateral facial lower motor neuron palsy often associated due to involvement of the genu of the seventh cranial nerve. Damage to motor neurons, in the abducens nucleus innervating the left lateral rectus muscle or damage to the fascicular portion of the sixth nerve accounts for the ipsilateral sixth nerve palsy and esotropia. The association of exotropia in the one-and-a-half syndrome was observed by Fisher and later termed "paralytic pontine exotropia" by Sharpe et al. In this distinctive supranuclear syndrome, the deviated, exotropic eye shows abduction nystagmus during attempts to move it further laterally, and there is extreme slowness of adduction saccades when the eye is used to fixate to move it to the midline. Paralytic pontine exotropia is attributed to tonic contralateral ocular deviation of the eyes, which implies acute ipsilateral involvement of the PPRF. Failure of the ipsilateral eye to deviate medially is explained by the INO. Three autopsy cases of paralytic pontine exotropia confirm the lesion site. Clinical distinction PPRF: Abducens nucleus. At the bedside distinction can be made between the manifestations of gaze palsies in lesions of the PPRF in the upper pons from those of the PPRF in the lower pons at the level of the abducens nucleus. With PPRF lesions rostral to the abducens, there is ipsilateral paralysis of saccades and pursuit, but the eyes can be driven to the side of the gaze palsy with vestibular stimulation. At the level of the abducens nucleus, lesions of the PPRF are associated with ipsilateral gaze palsy and loss of reflex vestibular (and tonic neck) movements. This presumes that there is a critical synapse within the caudal PPRF for the vestibulo-ocular pathways or that, at the very least, the functional integrity of the PPRF at that level is necessary for vestibulo-ocular eye movements. An associated sign with abducens nuclear lesions, however is an ipsilateral "peripheral" facial palsy because the genu of the seventh nerve wraps around the abducens nucleus. The gustatory fibers are spared, because these fibers are carried in the intermediate branch of the facial nerve to the nucleus solitarius of the medulla. Abducens nucleus and contralateral medial longitudinal fasciculus (MLF) An identical ipsilateral gaze palsy can be produced by damage to axons of abducens neurons as they course through the brainstem, namely, the ipsilateral sixth nerve fascicle and those axons which ascend the contralateral MLF. Separation of these two anatomic sites suggests two lesions. A lateral gaze palsy that always remains conjugate is consistent with one lesion of the abducens nucleus, whereas one that is not conjugate at any time would better fit two lesions. Internuclear Ophthalmoplegia is characterized by: 1. Paresis or paralysis of adduction of the ipsilateral eye on attempted horizontal gaze to the contralateral side. 2. Horizontal jerk nystagmus in the contralateral abducting eye and 3. Typically convergence is intact if the lesion does not extend to the mesencephalon. Other associated findings are abnormalities in vertical smooth pursuit, OKN, the vertical VOR with normal vertical saccades if the INO is bilateral, gaze evoked vertical nystagmus on upward gaze more frequent than downgaze if the lesion is bilateral and skew deviation. A unilateral INO is due to the interruption of the ipsilateral MLF after it has crossed the midline caudally in the pons from its site of origin in the contralateral abducens nucleus.The anatomic localization of the lesion in the one-and-a-half syndrome has been confirmed at autopsy in seven patients. Six of them had a single unilateral lesion in the pontine tegmentum ipsilateral to the gaze palsy involving the PPRF and the ipsilateral MLF. The abducens nucleus was spared by discrete lesions and involved in extensive lesions resulting from infarction, hemorrhage or glioma. In Fisher\u27s case, extensive pontine infarction involved both the PPRF and the abducens nucleus. Crevits et al correlated the gaze palsy with a single discrete infarct 3 by 2 mm in diameter in the ipsilateral PPRF and MLF. The lower fascicles of the ipsilateral sixth nerve passed through the necrotic area. This was probably the smallest lesion associated with the one-and-a-half syndrome. Newman et al reported a similar clinical case, but they found an ipsilateral PPRF lesion and "ischemic necrosis in the region of the abducens nucleus, although individual neurons could be identified". Partial damage to the contralateral PPRF was also found. In another pathologically confirmed case evaluated clinically by electro-oculography, a hypertensive hemorrhage in the rostral pontine tegmentum had spread into the right basis pontis to destroy the ipsilateral PPRF and abducens nucleus.Cavernous angiomaRadiation therapy1. Bennett H, Savill TH. A case of permanent conjugate deviation of the eyes and head, the result of a lesion limited to the sixth nucleus, with remarks on associated lateral movements of the eyeballs, and rotation of the head and neck. Brain 1889;12:102-116. 2. Bogousslavsky J, Miklossy J, Regli F, Deruaz JP, Despland PA. One-and-a-half syndrome in ischemic locked-in state. J Neurol Neurosurg Psychiatry 1984;47:927-935. http://www.ncbi.nlm.nih.gov/pubmed/6481386 3. Carter JE, Rauch RA. One-and-a-half syndrome type II. arch Neurol 1994;51:87-80. http://www.ncbi.nlm.nih.gov/pubmed/8274115 4. Cogan DG, Wray SH. Internuclear ophthalmoplegia as an early sign of brainstem tumors. Neurology 1970;20:629-633. http://www.ncbi.nlm.nih.gov/pubmed/5463534 5. Crevits L, de Reuck J, vander Eecken H: Paralytic pontine exotropia in subarachnoid hemorrhage: a clinocopathological correlation. Clin Neurol Neurosurg 1975:78:269-276. http://www.ncbi.nlm.nih.gov/pubmed/1234038 6. Fisher CM. Some neuro-ophthalmological observations. J Neurol Neurosurg Psychiatry 1967;30:383-392. http://www.ncbi.nlm.nih.gov/pubmed/6062990 7. Jackel RA, Gittinger JW Jr, Smith TW, Passarelli CB. Metastatic adenocarcinoma presenting as a one-and-a-half syndrome. J Clin Neuroopthalmol 1986; 6:116-119. http://www.ncbi.nlm.nih.gov/pubmed/2942568 8. Kataoka S, Hori A, Shirakawa T, Hirose G. Paramedian pontine infarction. Neurological/topographical correlation. Stroke 1997;28:809-815. http://www.ncbi.nlm.nih.gov/pubmed/9099201 9. Miller NR, Biousse V, Hwang T, Patel S, Newman NJ, Zee DS. Isolated acquired unilateral horizontal gaze paresis from a putative lesion of the abducens nucleus. J Neuroophthalmol. 2002;3:204-207. http://www.ncbi.nlm.nih.gov/pubmed/12352583 10. Müri RM, Chermann JF, Cohen L, Rivaud S, Pierrot-Deseilligny C. Ocular motor consequences of damage to the abducens nucleus area in humans. J Neuroophthalmol. 1996;Sep;16(3):191-195. http://www.ncbi.nlm.nih.gov/pubmed/8865013 11. Newman NM, Day SH, Aguilar MJ. Paralytic pontine exotropia a case report with clinicopathologic confirmation. Augenbewegungastörungen Neurophysiologie und Klinik, München JF Bergman Verlag, 1978. 12. Newton HB, Miner ME. "One-and-a-half syndrome after resection of a midline cerebellar astrocytoma: case report and discussion of the literature. Neurosurgery 1991;29:768-772. http://www.ncbi.nlm.nih.gov/pubmed/1961411 13. Oommen KJ, Smith MS, Labadie EL. Pontine hemorrhage causing Fisher one-and-a-half syndrome with facial paralysis. J Clin Neuroophthalmol 1982;2:129-132. http://www.ncbi.nlm.nih.gov/pubmed/6226696 14. Pierrot-Deseilligny C, Chain F, Gray F, Escourolle R, Castaigne P. Supranuclear lateral gaze palsy of pontine origin. Report of 2 clinicopathologic cases with electrooculographic and electromyographic data] Rev Neurol (Paris). 1979;135(11):741-762. http://www.ncbi.nlm.nih.gov/pubmed/555017 15. Raps EC, Galetta SL, King JT Jr, Yachnis AT, Flamm ES. Isolated one-and-a-half syndrome with pontine cavernous angioma; successful surgical removal. J Clin Neuroophthalmol. 1990;10:287-290. http://www.ncbi.nlm.nih.gov/pubmed/2150849 16. Sharpe JA, Rosenberg MA, Hoyt WF, Daroff RB. Paralytic pontine exotropia. A sign of acute unilateral pontine gaze palsy and internculear ophthalmoplegia. Neurology 1974;24:1076-1081. http://www.ncbi.nlm.nih.gov/pubmed/4472909 17. Smith JL, Cogan DG. Internuclear ophthalmoplegia. A review of 58 cases. A.M.A. Arch Ophthalmol 1959;61:687-694. http://www.ncbi.nlm.nih.gov/pubmed/13636562 18. Smith MS, Buchsbaum HW, Masland WS. One-and-a-half syndrome. Occurrence after trauma with computerized tomographic correlation. Arch Neurol 1980;37:251. http://www.ncbi.nlm.nih.gov/pubmed/7362495 19. Wall M, Wray SH. The one-and-a-half syndrome: a unilateral lesion of the pontine tegmentum. A study of 20 cases and review of the literature. Neurology 1983, 33:971-980. http://www.ncbi.nlm.nih.gov/pubmed/668382
Unilateral Internuclear Ophthalmoplegia
No full textUnilateral Internuclear Ophthalmoplegia; Unilateral Horizontal Gaze Palsy; Upbeat Nystagmus on Upgaze; Convergence Normal; Pendular Vertical OscillationsCavernous Angioma: https://collections.lib.utah.edu/details?id=2174184 One-and-a-Half Syndrome: https://collections.lib.utah.edu/details?id=2174221DiplopiaThe patient is a 19 year old sophomore who presented in 1983 with numbness of the left hand, involving initially just the fingers, and numbness and weakness of the right side of the face. He described the numbness in his hand as if it was "intensely asleep". The facial numbness involved the perioral region. Over the next five days, prior to admission (PTA), the numbness spread to involve the whole left side of his body, and extended over a greater area of the right face to involve the cheek and right side of his tongue. One day PTA, he developed a mild occipital headache and unsteadiness standing and walking. He was admitted to an outside hospital. Brain CT: The scan revealed a mass lesion in the region of the fourth ventricle which was thought to represent a brain tumor. He was transferred and admitted to the Massachusetts General Hospital. Ocular Motility on arrival: Primary position upbeat nystagmus Rotary clockwise nystagmus on gaze left Horizontal gaze evoked nystagmus on gaze right Primary position upbeat nystagmus was attributable to a lesion(s) in the region of the nucleus intercalatus and the nucleus of Roller in the perihypoglossal area of the caudal medulla. Neurological examination showed: Right lower motor neuron facial palsy (Bell\u27s palsy) Athetoid movements of the fingers of the left hand Pronator drift of the left arm Left upper extremity ataxia on finger-nose-finger No gait ataxia Left hemisensory loss Brain CT: Right pontomedullary hemorrhage. Vertebral angiogram with angiotomography: No evidence of a vascular malformation. Suboccipital Craniectomy: On October 14, 1983 a Suboccipital Craniectomy was performed. A right pontine hemorrhage was drained. Ocular motility post-operatively: • Right internuclear ophthalmoplegia with adduction weakness OD • Abducting nystagmus OS • Right horizontal gaze palsy • Upbeating nystagmus on upgaze • Full vertical gaze • Normal convergence • Right Bell\u27s palsy This constellation of signs added up to the Fisher\u27s one-and-a-half syndrome. Between 1983 and 1989 the patient had three further small bleeds in the unilateral pontine lesion. In 1986, he developed a right sixth nerve palsy and was readmitted to the MGH. Brain CT: Right pontine hematoma ventral to the floor of the fourth ventricle. In 1988, he was again readmitted with progressive ataxia of the left extremities. He also noted that movement, even passively, such as riding in the car resulted in a sensation of disequilibrium. Brain MRI: T1 and T2 weighted images in the axial and sagittal plane showed an arteriovenous malformation (AVM) in the pons with slight extension into the inferior aspect of the midbrain on the right side. The mass had faint increased density in the T1 and T2 weighted images in keeping with methemoglobin due to recent hemorrhage and was surrounded by areas of decreased density due to hemosiderin. The AVM, diagnosed as a cavernous angioma, produced no mass effect and the floor of the fourth ventricle was not elevated. The aqueduct was not compressed. (Figures 1 and 2) Therapy: The patient was seen by Dr. Raymond Adams who found all the neurological deficits pointed to a high pontine tegmental lesion. Dr. Adams explained to Robert that he had seen patients who had had as many as 15 bleeds without major destruction of nervous tissue and that the bleed was a venous leak with seepage of blood and not an arterial bleed. Dr. Adams recommended focal proton beam therapy. Dr. Raymond Kjellberg treated Robert with stereotactic Bragg Peak proton beam therapy. A total dose of 1,700 rads was delivered by two portals, one on each side of the head, each portal having three laminated divisions. A 19 mm beam was used. Inspite of radiation treatment, the patient continued to have recurrent bleeds and after his eleventh bleed in 1999 he developed a bilateral horizontal gaze palsy and pendular vertical oscillations, but no palatal tremor.I had the opportunity to film Robert on two occasions. In 1983, post-operatively, he had: • Right internuclear ophthalmoplegia with adduction weakness OD • Abducting nystagmus OS • Right horizontal gaze palsy • Upbeating nystagmus on upgaze • Full vertical gaze • Normal convergence • Right Bell\u27s palsy Five years later, in 1988, he had: • A partial right internuclear ophthalmoplegia with weakness of adduction of the right eye with nystagmus • Abducting nystagmus OS • Impaired abduction OD due to a right sixth nerve palsy • Weakness of adduction OS on gaze right with gaze evoked nystagmus (consistent with a right horizontal gaze palsy) • Upbeat nystagmus on upgaze • Full vertical gaze • Normal pursuit eye movements • No facial weakness The video also shows confirmation of a paralytic esotropia of the right eye by the demonstration of abduction weakness when the right eye fixes alone.1989 Brain MRI studies are shown at the end of the video clip.The one-and-a-half syndrome first described by Fisher in 1967 is characterized by, on horizontal gaze: 1. An ipsilateral gaze paresis or palsy 2. An INO on contralateral gaze 3. At rest, an exotropia of the eye contralateral to the lesion in the acute phase, or no deviation at rest, or less commonly, an esotropia of the eye ipsilateral to the lesion resulting from paresis of the sixth nerve. Horizontal gaze palsy. There are four theoretical possibilities to account for the ipsilateral horizontal gaze palsy. It may be due to a single unilateral lesion affecting: 1. The ipsilateral paramedial pontine reticular formation (PPRF) only 2. The ipsilateral abducens nucleus alone 3. Both the ipsilateral paramedial pontine reticular formation (PPRF) and the abducens nucleus, or, when two lesions are involved 4. The motoneuron root fibers of the ipsilateral abducens nucleus to the lateral rectus and the contralateral medial longitudinal fasciculus (MLF). Paramedial pontine reticular formation. The medial portions of the nucleus reticularis magnocellularis (or nucleus centralis pontis oralis and caudalis) have been designated the "paramedian pontine reticular formation" (PPRF), rostral to the abducens nucleus. The region extends from the abducens nucleus in a rostral direction toward the brachium conjunctivum and trochlear nucleus. It has been defined functionally because there are no distinct histologic boundaries. But anatomically, Graybiel, Büttner-Ennever, and Grantyn et al all showed inputs from discrete areas. Clinical findings with PPRF lesion: • Loss of horizontal saccades towards the side of the lesion • Contralateral gaze deviation, in acute phase • Gaze-evoked nystagmus on looking contralateral to the lesion • Impaired smooth pursuit and vestibular eye movements may be preserved or impaired • Bilateral lesions cause total horizontal gaze palsy and slowing of vertical saccades Abducens nucleus. The abducens nucleus contains typical motoneurons that give rise to root fibers that innervate the lateral rectus as well as internuclear neurons whose axons cross the midline and ascend via the contralateral MLF to the medial rectus subnucleus in the contralateral oculomotor (third nerve) nucleus. This projection is the main excitatory input to medial rectus motoneurons in lateral gaze. An old clinicopathologic case published by Bennett and Savill (1) described a unilateral gaze palsy with an associated "patch of softening" in the abducens nucleus without apparent involvement of neighboring structures. Clinical findings with lesion of the abducens nuclei • Loss of all conjugate movements towards the side of the lesion - "ipsilateral, horizontal gaze palsy" • Contralateral gaze deviation, in acute phase • Vergence and vertical movements are spared • In the intact hemifield of gaze, horizontal movements may be preserved, but ipsilaterally directed saccades are slow • Horizontal gaze-evoked nystagmus on looking contralaterally • Ipsilateral facial lower motor neuron palsy often associated due to involvement of the genu of the seventh cranial nerve. Damage to motor neurons, in the abducens nucleus innervating the left lateral rectus muscle or damage to the fascicular portion of the sixth nerve accounts for the ipsilateral sixth nerve palsy and esotropia. The association of exotropia in the one-and-a-half syndrome was observed by Fisher and later termed "paralytic pontine exotropia" by Sharpe et al. In this distinctive supranuclear syndrome, the deviated, exotropic eye shows abduction nystagmus during attempts to move it further laterally, and there is extreme slowness of adduction saccades when the eye is used to fixate to move it to the midline. Paralytic pontine exotropia is attributed to tonic contralateral ocular deviation of the eyes, which implies acute ipsilateral involvement of the PPRF. Failure of the ipsilateral eye to deviate medially is explained by the INO. Three autopsy cases of paralytic pontine exotropia confirm the lesion site. Clinical distinction PPRF: Abducens nucleus. At the bedside distinction can be made between the manifestations of gaze palsies in lesions of the PPRF in the upper pons from those of the PPRF in the lower pons at the level of the abducens nucleus. With PPRF lesions rostral to the abducens, there is ipsilateral paralysis of saccades and pursuit, but the eyes can be driven to the side of the gaze palsy with vestibular stimulation. At the level of the abducens nucleus, lesions of the PPRF are associated with ipsilateral gaze palsy and loss of reflex vestibular (and tonic neck) movements. This presumes that there is a critical synapse within the caudal PPRF for the vestibulo-ocular pathways or that, at the very least, the functional integrity of the PPRF at that level is necessary for vestibulo-ocular eye movements. An associated sign with abducens nuclear lesions, however is an ipsilateral "peripheral" facial palsy because the genu of the seventh nerve wraps around the abducens nucleus. The gustatory fibers are spared, because these fibers are carried in the intermediate branch of the facial nerve to the nucleus solitarius of the medulla. Abducens nucleus and contralateral medial longitudinal fasciculus (MLF) An identical ipsilateral gaze palsy can be produced by damage to axons of abducens neurons as they course through the brainstem, namely, the ipsilateral sixth nerve fascicle and those axons which ascend the contralateral MLF. Separation of these two anatomic sites suggests two lesions. A lateral gaze palsy that always remains conjugate is consistent with one lesion of the abducens nucleus, whereas one that is not conjugate at any time would better fit two lesions. Internuclear Ophthalmoplegia is characterized by: 1. Paresis or paralysis of adduction of the ipsilateral eye on attempted horizontal gaze to the contralateral side. 2. Horizontal jerk nystagmus in the contralateral abducting eye and 3. Typically convergence is intact if the lesion does not extend to the mesencephalon. Other associated findings are abnormalities in vertical smooth pursuit, OKN, the vertical VOR with normal vertical saccades if the INO is bilateral, gaze evoked vertical nystagmus on upward gaze more frequent than downgaze if the lesion is bilateral and skew deviation. A unilateral INO is due to the interruption of the ipsilateral MLF after it has crossed the midline caudally in the pons from its site of origin in the contralateral abducens nucleus.The anatomic localization of the lesion in the one-and-a-half syndrome has been confirmed at autopsy in seven patients. Six of them had a single unilateral lesion in the pontine tegmentum ipsilateral to the gaze palsy involving the PPRF and the ipsilateral MLF. The abducens nucleus was spared by discrete lesions and involved in extensive lesions resulting from infarction, hemorrhage or glioma. In Fisher\u27s case, extensive pontine infarction involved both the PPRF and the abducens nucleus. Crevits et al correlated the gaze palsy with a single discrete infarct 3 by 2 mm in diameter in the ipsilateral PPRF and MLF. The lower fascicles of the ipsilateral sixth nerve passed through the necrotic area. This was probably the smallest lesion associated with the one-and-a-half syndrome. Newman et al reported a similar clinical case, but they found an ipsilateral PPRF lesion and "ischemic necrosis in the region of the abducens nucleus, although individual neurons could be identified". Partial damage to the contralateral PPRF was also found. In another pathologically confirmed case evaluated clinically by electro-oculography, a hypertensive hemorrhage in the rostral pontine tegmentum had spread into the right basis pontis to destroy the ipsilateral PPRF and abducens nucleus.Cavernous angiomaRadiation therapy1. Bennett H, Savill TH. A case of permanent conjugate deviation of the eyes and head, the result of a lesion limited to the sixth nucleus, with remarks on associated lateral movements of the eyeballs, and rotation of the head and neck. Brain 1889;12:102-116. 2. Bogousslavsky J, Miklossy J, Regli F, Deruaz JP, Despland PA. One-and-a-half syndrome in ischemic locked-in state. J Neurol Neurosurg Psychiatry 1984;47:927-935. http://www.ncbi.nlm.nih.gov/pubmed/6481386 3. Carter JE, Rauch RA. One-and-a-half syndrome type II. arch Neurol 1994;51:87-80. http://www.ncbi.nlm.nih.gov/pubmed/8274115 4. Cogan DG, Wray SH. Internuclear ophthalmoplegia as an early sign of brainstem tumors. Neurology 1970;20:629-633. http://www.ncbi.nlm.nih.gov/pubmed/5463534 5. Crevits L, de Reuck J, vander Eecken H: Paralytic pontine exotropia in subarachnoid hemorrhage: a clinocopathological correlation. Clin Neurol Neurosurg 1975:78:269-276. http://www.ncbi.nlm.nih.gov/pubmed/1234038 6. Fisher CM. Some neuro-ophthalmological observations. J Neurol Neurosurg Psychiatry 1967;30:383-392. http://www.ncbi.nlm.nih.gov/pubmed/6062990 7. Jackel RA, Gittinger JW Jr, Smith TW, Passarelli CB. Metastatic adenocarcinoma presenting as a one-and-a-half syndrome. J Clin Neuroopthalmol 1986; 6:116-119. http://www.ncbi.nlm.nih.gov/pubmed/2942568 8. Kataoka S, Hori A, Shirakawa T, Hirose G. Paramedian pontine infarction. Neurological/topographical correlation. Stroke 1997;28:809-815. http://www.ncbi.nlm.nih.gov/pubmed/9099201 9. Miller NR, Biousse V, Hwang T, Patel S, Newman NJ, Zee DS. Isolated acquired unilateral horizontal gaze paresis from a putative lesion of the abducens nucleus. J Neuroophthalmol. 2002;3:204-207. http://www.ncbi.nlm.nih.gov/pubmed/12352583 10. Müri RM, Chermann JF, Cohen L, Rivaud S, Pierrot-Deseilligny C. Ocular motor consequences of damage to the abducens nucleus area in humans. J Neuroophthalmol. 1996;Sep;16(3):191-195. http://www.ncbi.nlm.nih.gov/pubmed/8865013 11. Newman NM, Day SH, Aguilar MJ. Paralytic pontine exotropia a case report with clinicopathologic confirmation. Augenbewegungastörungen Neurophysiologie und Klinik, München JF Bergman Verlag, 1978. 12. Newton HB, Miner ME. "One-and-a-half syndrome after resection of a midline cerebellar astrocytoma: case report and discussion of the literature. Neurosurgery 1991;29:768-772. http://www.ncbi.nlm.nih.gov/pubmed/1961411 13. Oommen KJ, Smith MS, Labadie EL. Pontine hemorrhage causing Fisher one-and-a-half syndrome with facial paralysis. J Clin Neuroophthalmol 1982;2:129-132. http://www.ncbi.nlm.nih.gov/pubmed/6226696 14. Pierrot-Deseilligny C, Chain F, Gray F, Escourolle R, Castaigne P. Supranuclear lateral gaze palsy of pontine origin. Report of 2 clinicopathologic cases with electrooculographic and electromyographic data] Rev Neurol (Paris). 1979;135(11):741-762. http://www.ncbi.nlm.nih.gov/pubmed/555017 15. Raps EC, Galetta SL, King JT Jr, Yachnis AT, Flamm ES. Isolated one-and-a-half syndrome with pontine cavernous angioma; successful surgical removal. J Clin Neuroophthalmol. 1990;10:287-290. http://www.ncbi.nlm.nih.gov/pubmed/2150849 16. Sharpe JA, Rosenberg MA, Hoyt WF, Daroff RB. Paralytic pontine exotropia. A sign of acute unilateral pontine gaze palsy and internculear ophthalmoplegia. Neurology 1974;24:1076-1081. http://www.ncbi.nlm.nih.gov/pubmed/4472909 17. Smith JL, Cogan DG. Internuclear ophthalmoplegia. A review of 58 cases. A.M.A. Arch Ophthalmol 1959;61:687-694. http://www.ncbi.nlm.nih.gov/pubmed/13636562 18. Smith MS, Buchsbaum HW, Masland WS. One-and-a-half syndrome. Occurrence after trauma with computerized tomographic correlation. Arch Neurol 1980;37:251. http://www.ncbi.nlm.nih.gov/pubmed/7362495 19. Wall M, Wray SH. The one-and-a-half syndrome: a unilateral lesion of the pontine tegmentum. A study of 20 cases and review of the literature. Neurology 1983, 33:971-980. http://www.ncbi.nlm.nih.gov/pubmed/6683820curriculum_fellow; IC-E3cv5-cavernous-hemangiomas; IC-D6aiii1-internuclear-ophthalmoplegi
The expedition of the Sultan in 1538 in Moldavia : (in the view of an Italian author)
No full textThe expedition of the Sultan in 1538 in Moldavia : (in the view of an Italian author). - In: Colloquia, an 2006, vol. 13, nr. 1-2, p. 257-271
5G NR : the next generation wireless access technology /
No full text5G NR: The Next Generation Wireless Access TechnologyïŽfollows the authors' highly celebrated books on 3G and 4G by providing a new level of insight into 5G NR. After an initial discussion of the background to 5G, including requirements, spectrum aspects and the standardization timeline, all technology features of the first phase of NR are described in detail. Included is a detailed description of the NR physical-layer structure and higher-layer protocols, RF and spectrum aspects and co-existence and interworking with LTE. The book provides a good understanding of NR and the different NR technology components, giving insight into why a certain solution was selected. Content includes: Key radio-related requirements of NR, design principles, technical featuresDetails of basic NR transmission structure, showing where it has been inherited from LTE and where it deviates from it, and the reasons whyNR Multi-antenna transmission functionalityDetailed description of the signals and functionality of the initial NR access, including signals for synchronization and system information, random access and pagingLTE/NR co-existence in the same spectrum, the benefits of their interworking as one systemThe different aspects of mobility in NR RF requirements for NR will be described both for BS and UE, both for the legacy bands and for the new mm-wave bands.Includes bibliographical references and index.Vendor-supplied metadata.5G NR: The Next Generation Wireless Access TechnologyïŽfollows the authors' highly celebrated books on 3G and 4G by providing a new level of insight into 5G NR. After an initial discussion of the background to 5G, including requirements, spectrum aspects and the standardization timeline, all technology features of the first phase of NR are described in detail. Included is a detailed description of the NR physical-layer structure and higher-layer protocols, RF and spectrum aspects and co-existence and interworking with LTE. The book provides a good understanding of NR and the different NR technology components, giving insight into why a certain solution was selected. Content includes: Key radio-related requirements of NR, design principles, technical featuresDetails of basic NR transmission structure, showing where it has been inherited from LTE and where it deviates from it, and the reasons whyNR Multi-antenna transmission functionalityDetailed description of the signals and functionality of the initial NR access, including signals for synchronization and system information, random access and pagingLTE/NR co-existence in the same spectrum, the benefits of their interworking as one systemThe different aspects of mobility in NR RF requirements for NR will be described both for BS and UE, both for the legacy bands and for the new mm-wave bands.Elsevie
Fisher\u27s One and a Half Syndrome
No full textUnilateral Internuclear Ophthalmoplegia; Unilateral Horizontal Gaze Palsy; Convergence Absent; EsotropiaOne-and-a-Half Syndrome: https://collections.lib.utah.edu/details?id=2174221Headache DiplopiaThis young man was seen in the emergency room of his local hospital following the onset of severe headache, mild confusion and diplopia. Non-contrast CT brain scan showed: A right pontine hemorrhage He was transferred to the Massachusetts General Hospital ICU. Ocular Motility: Esotropia of the right eye Right internuclear ophthalmoplegia on gaze left with weakness of adduction OD, abducting nystagmus OS Right horizontal gaze palsy with gaze evoked nystagmus Convergence absent Full vertical gaze Right lower motor neuron facial palsy (Bell\u27s palsy) This constellation of signs adds up to Fisher\u27s one-and-a-half syndrome. Diagnosis: Pontine hemorrhage This case should be viewed alongside ID922-2, a young student with a cavernous angioma, a one-and-a-half syndrome and recurrent unilateral pontine hemorrhage.This patient with a right pontine hemorrhage had Fisher\u27s one-and-a-half syndrome with: • Esotropia of the right eye • Right internuclear ophthalmoplegia on gaze left with weakness of adduction OD, abducting nystagmus OS • Right horizontal gaze palsy with gaze evoked nystagmus • Convergence absent • Full vertical gaze • Right Bell\u27s palsyNeuroimaging studies are unavailable in this patient.The one-and-a-half syndrome first described by Fisher in 1967 is characterized by, on horizontal gaze: 1. An ipsilateral gaze paresis or palsy 2. An INO on contralateral gaze 3. At rest, an exotropia of the eye contralateral to the lesion in the acute phase, or no deviation at rest, or less commonly, an esotropia of the eye ipsilateral to the lesion resulting from paresis of the sixth nerve. Horizontal gaze palsy. There are four theoretical possibilities to account for the ipsilateral horizontal gaze palsy. It may be due to a single unilateral lesion affecting: 1. The ipsilateral paramedial pontine reticular formation (PPRF) only 2. The ipsilateral abducens nucleus alone 3. Both the ipsilateral paramedial pontine reticular formation (PPRF) and the abducens nucleus, or, when two lesions are involved 4. The motoneuron root fibers of the ipsilateral abducens nucleus to the lateral rectus and the contralateral medial longitudinal fasciculus (MLF). Paramedial pontine reticular formation. The medial portions of the nucleus reticularis magnocellularis (or nucleus centralis pontis oralis and caudalis) have been designated the "paramedian pontine reticular formation" (PPRF), rostral to the abducens nucleus. The region extends from the abducens nucleus in a rostral direction toward the brachium conjunctivum and trochlear nucleus. It has been defined functionally because there are no distinct histologic boundaries. But anatomically, Graybiel, Büttner-Ennever, and Grantyn et al all showed inputs from discrete areas. Clinical findings with PPRF lesion: • Loss of horizontal saccades towards the side of the lesion • Contralateral gaze deviation, in acute phase • Gaze-evoked nystagmus on looking contralateral to the lesion • Impaired smooth pursuit and vestibular eye movements may be preserved or impaired • Bilateral lesions cause total horizontal gaze palsy and slowing of vertical saccades Abducens nucleus. The abducens nucleus contains typical motoneurons that give rise to root fibers that innervate the lateral rectus as well as internuclear neurons whose axons cross the midline and ascend via the contralateral MLF to the medial rectus subnucleus in the contralateral oculomotor (third nerve) nucleus. This projection is the main excitatory input to medial rectus motoneurons in lateral gaze. An old clinicopathologic case published by Bennett and Savill (1) described a unilateral gaze palsy with an associated "patch of softening" in the abducens nucleus without apparent involvement of neighboring structures. Clinical findings with lesion of the abducens nuclei • Loss of all conjugate movements towards the side of the lesion - "ipsilateral, horizontal gaze palsy" • Contralateral gaze deviation, in acute phase • Vergence and vertical movements are spared • In the intact hemifield of gaze, horizontal movements may be preserved, but ipsilaterally directed saccades are slow • Horizontal gaze-evoked nystagmus on looking contralaterally • Ipsilateral facial lower motor neuron palsy often associated due to involvement of the genu of the seventh cranial nerve. The gustatory fibers are spared, because these fibers are carried in the intermediate branch of the facial nerve to the nucleus solitarius of the medulla. Damage to motor neurons, in the abducens nucleus innervating the left lateral rectus muscle or damage to the fascicular portion of the sixth nerve accounts for the ipsilateral sixth nerve palsy and esotropia. The association of exotropia in the one-and-a-half syndrome was observed by Fisher and later termed "paralytic pontine exotropia" by Sharpe et al. In this distinctive supranuclear syndrome, the deviated, exotropic eye shows abduction nystagmus during attempts to move it further laterally, and there is extreme slowness of adduction saccades when the eye is used to fixate to move it to the midline. Paralytic pontine exotropia is attributed to tonic contralateral ocular deviation of the eyes, which implies acute ipsilateral involvement of the PPRF. Failure of the ipsilateral eye to deviate medially is explained by the INO. Three autopsy cases of paralytic pontine exotropia confirm the lesion site. Clinical distinction PPRF: Abducens nucleus. At the bedside distinction can be made between the manifestations of gaze palsies in lesions of the PPRF in the upper pons from those of the PPRF in the lower pons at the level of the abducens nucleus. With PPRF lesions rostral to the abducens, there is ipsilateral paralysis of saccades and pursuit, but the eyes can be driven to the side of the gaze palsy with vestibular stimulation. At the level of the abducens nucleus, lesions of the PPRF are associated with ipsilateral gaze palsy and loss of reflex vestibular (and tonic neck) movements. This presumes that there is a critical synapse within the caudal PPRF for the vestibulo-ocular pathways or that, at the very least, the functional integrity of the PPRF at that level is necessary for vestibulo-ocular eye movements. Abducens nucleus and contralateral medial longitudinal fasciculus (MLF) An identical ipsilateral gaze palsy can be produced by damage to axons of abducens neurons as they course through the brainstem, namely, the ipsilateral sixth nerve fascicle and those axons which ascend the contralateral MLF. Separation of these two anatomic sites suggests two lesions. A lateral gaze palsy that always remains conjugate is consistent with one lesion of the abducens nucleus, whereas one that is not conjugate at any time would better fit two lesions. Internuclear Ophthalmoplegia is characterized by: 1. Paresis or paralysis of adduction of the ipsilateral eye on attempted horizontal gaze to the contralateral side. 2. Horizontal jerk nystagmus in the contralateral abducting eye and 3. Typically convergence is intact if the lesion does not extend to the mesencephalon. Other associated findings are abnormalities in vertical smooth pursuit, OKN, the vertical VOR with normal vertical saccades if the INO is bilateral, gaze evoked vertical nystagmus on upward gaze more frequent than downgaze if the lesion is bilateral and skew deviation. A unilateral INO is due to the interruption of the ipsilateral MLF after it has crossed the midline caudally in the pons from its site of origin in the contralateral abducens nucleus.The anatomic localization of the lesion in the one-and-a-half syndrome has been confirmed at autopsy in seven patients. Six of them had a single unilateral lesion in the pontine tegmentum ipsilateral to the gaze palsy involving the PPRF and the ipsilateral MLF. The abducens nucleus was spared by discrete lesions and involved in extensive lesions resulting from infarction, hemorrhage or glioma. In Fisher\u27s case, extensive pontine infarction involved both the PPRF and the abducens nucleus. Crevits et al correlated the gaze palsy with a single discrete infarct 3 by 2 mm in diameter in the ipsilateral PPRF and MLF. The lower fascicles of the ipsilateral sixth nerve passed through the necrotic area. This was probably the smallest lesion associated with the one-and-a-half syndrome. Newman et al reported a similar clinical case, but they found an ipsilateral PPRF lesion and "ischemic necrosis in the region of the abducens nucleus, although individual neurons could be identified". Partial damage to the contralateral PPRF was also found. In another pathologically confirmed case evaluated clinically by electro-oculography, a hypertensive hemorrhage in the rostral pontine tegmentum had spread into the right basis pontis to destroy the ipsilateral PPRF and abducens nucleus.Pontine hemorrhage1. Bennett H, Savill TH. A case of permanent conjugate deviation of the eyes and head, the result of a lesion limited to the sixth nucleus, with remarks on associated lateral movements of the eyeballs, and rotation of the head and neck. Brain 1889;12:102-116. 2. Bogousslavsky J, Miklossy J, Regli F, Deruaz JP, Despland PA. One-and-a-half syndrome in ischemic locked-in state. J Neurol Neurosurg Psychiatry 1984;47:927-935. http://www.ncbi.nlm.nih.gov/pubmed/6481386 3. Carter JE, Rauch RA. One-and-a-half syndrome type II. arch Neurol 1994;51:87-80. http://www.ncbi.nlm.nih.gov/pubmed/8274115 4. Cogan DG, Wray SH. Internuclear ophthalmoplegia as an early sign of brainstem tumor. Neurology 1970;20:629-633. http://www.ncbi.nlm.nih.gov/pubmed/5463534 5. Crevits L, de Reuck J, vander Eecken H: Paralytic pontine exotropia in subarachnoid hemorrhage: a clinocopathological correlation. Clin Neurol Neurosurg 1975:78:269-276. http://www.ncbi.nlm.nih.gov/pubmed/1234038 6. Fisher CM. Some neuro-ophthalmological observations. J Neurol Neurosurg Psychiatry 1967;30:383-392. http://www.ncbi.nlm.nih.gov/pubmed/6062990 7. Jackel RA, Gittinger JW Jr, Smith TW, Passarelli CB. Metastatic adenocarcinoma presenting as a one-and-a-half syndrome. J Clin Neuroopthalmol 1986; 6:116-119. http://www.ncbi.nlm.nih.gov/pubmed/2942568 8. Kataoka S, Hori A, Shirakawa T, Hirose G. Paramedian pontine infarction. Neurological/topographical correlation. Stroke 1997;28:809-815. http://www.ncbi.nlm.nih.gov/pubmed/9099201 9. Miller NR, Biousse V, Hwang T, Patel S, Newman NJ, Zee DS. Isolated acquired unilateral horizontal gaze paresis from a putative lesion of the abducens nucleus. J Neuroophthalmol. 2002;3:204-207. http://www.ncbi.nlm.nih.gov/pubmed/12352583 10. Müri RM, Chermann JF, Cohen L, Rivaud S, Pierrot-Deseilligny C. Ocular motor consequences of damage to the abducens nucleus area in humans. J Neuroophthalmol. 1996;Sep;16(3):191-195. http://www.ncbi.nlm.nih.gov/pubmed/8865013 11. Newman NM, Day SH, Aguilar MJ. Paralytic pontine exotropia a case report with clinicopathologic confirmation. Augenbewegungastörungen Neurophysiologie und Klinik, München JF Bergman Verlag, 1978. 12. Newton HB, Miner ME. "One-and-a-half syndrome after resection of a midline cerebellar astrocytoma: case report and discussion of the literature. Neurosurgery 1991;29:768-772. http://www.ncbi.nlm.nih.gov/pubmed/1961411 13. Oommen KJ, Smith MS, Labadie EL. Pontine hemorrhage causing Fisher one-and-a-half syndrome with facial paralysis. J Clin Neuroophthalmol 1982;2:129-132. http://www.ncbi.nlm.nih.gov/pubmed/6226696 14. Pierrot-Deseilligny C, Chain F, Gray F, Escourolle R, Castaigne P. [Supranuclear lateral gaze palsy of pontine origin. Report of 2 clinicopathologic cases with electrooculographic and electromyographic data] Rev Neurol (Paris). 1979;135(11):741-762. http://www.ncbi.nlm.nih.gov/pubmed/555017 15. Raps EC, Galetta SL, King JT Jr, Yachnis AT, Flamm ES. Isolated one-and-a-half syndrome with pontine cavernous angioma; successful surgical removal. J Clin Neuroophthalmol 1990;10:287-290. http://www.ncbi.nlm.nih.gov/pubmed/2150849 16. Sharpe JA, Rosenberg MA, Hoyt WF, Daroff RB. Paralytic pontine exotropia. A sign of acute unilateral pontine gaze palsy and internculear ophthalmoplegia. Neurology 1974;24:1076-1081. http://www.ncbi.nlm.nih.gov/pubmed/4472909 17. Smith JL, Cogan DG. Internuclear ophthalmoplegia. A review of 58 cases. A.M.A. Arch Ophthalmol 1959;61:687-694. http://www.ncbi.nlm.nih.gov/pubmed/13636562 18. Smith MS, Buchsbaum HW, Masland WS. One-and-a-half syndrome. Occurrence after trauma with computerized tomographic correlation. Arch Neurol 1980;37:251. http://www.ncbi.nlm.nih.gov/pubmed/7362495 19. Wall M, Wray SH. The one-and-a-half syndrome: a unilateral lesion of the pontine tegmentum. A study of 20 cases and review of the literature. Neurology 1983, 33:971-980. http://www.ncbi.nlm.nih.gov/pubmed/6683820curriculum_fellow; IC-D6aiii3-one-and-a-half-syndrom
Lid Lag
No full textLid Lag; Restricted UpgazeThyroid Associated Orbitopathy: https://collections.lib.utah.edu/details?id=2174242 Lid Lag: https://collections.lib.utah.edu/details?id=2174206Prominent eyesThe classical eye signs of thyroid associated ophthalmopathy (TAO) of Graves\u27 Disease is illustrated by case ID925-4. This 50 year old woman with TAO is included in the collection because she illustrates very well lid lag (persistent elevation of the upper eyelid in downgaze) - von Graefe sign Eyelid position is coordinated with vertical eye movements. In upgaze the lids elevate. In downgaze the lids typically relax and follow the globe down and close. In TAO, in addition to patients with dorsal midbrain lesions (ID 921-1, 924-2 and 925-4) the normal relationship is impaired and the eyelids remain elevated while the eyes move down. The presence of lid-lag in downgaze without significant lid retraction in primary gaze suggests a separate central mechanism for the control of the upper eyelid on downgaze. Galetta et al suggests that one possible lesion for lid-lag without retraction involves the inhibitory connection from the supranuclear downgaze centers to the central caudal nucleus. In addition this patient had 1. Minimal bilateral exophthalmos 2. Slight reduction of orbital resilience 3. Congested scleral blood vessels 4. Slight limitation of upgaze 5. Absent Bell\u27s reflex (eyes fail to move up under closed lids consistent with a restrictive orbitopathy and tethering of the globe inferiorly) Neuro-ophthalmological examination was otherwise completely normal and ruled out compression of the optic nerve by enlarged extraocular muscles crowding the orbital apex. CT Orbit The inferior rectus and medial rectus muscles were enlarged. The scan confirmed the diagnosis of TAO.The video of this patient with TAO of Graves\u27 Disease draws attention to eyelid function. It illustrates very well von Graefe sign - lid lag. Also illustrated is: • The use of a Hertel exophthalmometer to measure the forward protrusion of the proptotic eye • How to evaluate reduced orbital resilience by digital pressure on the globe Note the persistent elevation of the upper eyelid as the eyeball moves down. Lid lag is particularly remarkable in this patient because she has minimal proptosis and minimal lid retraction of the right eyelid. The sclera is not visible between the superior limbus and the upper eyelid. Bilateral inferior scleral show is present. ID925-4, a case of restrictive orbitopathy in Graves\u27 Disease should be viewed alongside this case.Computerized tomography (CT) of the orbit is the gold standard for the diagnosis of TAO. The classic findings are : 1. Enlargement of the extraocular muscle belly with relative sparing of the tendon. 2. Proptosis may be recognized without extraocular muscle enlargement, presumably resulting from an increased volume of intraorbital fat. 3. Enlargement of the lacrimal gland 4. Eyelid soft tissue swelling. CT orbits: Illustrative images in another case of TAO show: Figure 1 Axial CT through the orbit without contrast shows enlargement of the medial rectus muscle bilaterally. Note that the tendinous insertion is spared. Figure 2 The coronal CT (reformatted from axial data set) without contrast shows enlargement of the medial rectus muscle, inferior rectus muscle and upper muscle complex on both sides. Courtesy of Hugh Curtin, M.D.Orbit - enlargement of extraocular musclesGraves\u27 Disease is an autoimmune condition. For unknown reasons, the extraocular muscles develop lymphocytic and plasmacytic infiltration with secondary production of acid mucopolysaccharides. In the acute stages, the changes are largely inflammatory. In the chronic inactive stage, there is often fatty infiltration of muscles.Autoimmune disorderTreatment of TAO associated with Graves\u27 Disease is extremely successful. Irritation and swelling can be treated with a short (1-2month) course of systemic corticosteroids or with low-dose (1500 to 2000 cGy) orbital radiation therapy. Proptosis can be treated with orbital decompression using a variety of techniques. (For a full discussion of therapy see reference 3, 6 and 10)1. Bahn RS, Heufelder AE, Pathogenesis of Graves\u27 ophthalmopathy. N Engl J Med 1993;329:1468-1475. http://www.ncbi.nlm.nih.gov/pubmed/8413459 2. Galetta SL, Gray LG, Raps EC, Shatz, NJ. Pretectal eyelid retraction and lag. Ann Neurol 1993;33:554-557. http://www.ncbi.nlm.nih.gov/pubmed/8498833 3. Galetta SL, Raps EC, Liu GT, Saito NG, Kline LB. Eyelid lag without eyelid retraction in pretectal disease. J Neuro-ophthalmol 1996; 16:96-98. http://www.ncbi.nlm.nih.gov/pubmed/8797164 4. Hoffman PN. In Walsh and Hoyt\u27s Clinical Neuro-Ophthalmology, 6th edition. Editors Miller NR, Newman NJ, 2005;1(22):1085-1131. 5. Jacobson DM. Acetylcholine receptor antibodies in patients with Graves ophthalmopathy. J Neuro-ophthalmol 1995;15:166-170. http://www.ncbi.nlm.nih.gov/pubmed/8574362IC-C7d-lid-lag; EXAMlidlag; NOTE-5bii4-lid-lag; IC-B6cii4-lid-la
Bilateral Ptosis
No full textBilateral Ptosis; Decompensated Phoria; Myasthenic Lid TwitchOcular Myasthenia Gravis: Past, Present and Future: https://collections.lib.utah.edu/details?id=2174219Droopy eyelidsThe patient is a 65 year old physician who presented with intermittent drooping of his eyelids, particularly at the end of the day. He found that if he gently closed his eyes when he came to a stop in his car at a set of traffic lights, his eyelids opened more fully. He subsequently developed intermittent horizontal double vision and consulted an ophthalmologist who diagnosed a decompensated phoria. He was prescribed prism glasses but frequently needed to return for a stronger prism. Ultimately, he had five pairs of prism glasses prescribed for him. The patient referred himself for a neuro-ophthalmological evaluation. Past History: Negative for previous attacks of diplopia, ptosis or fatigue Neuro-ophthalmological examination: Visual acuity: 20/25, J1 OU. Visual fields, pupils and fundus examination normal Eyelids: • Bilateral ptosis with almost complete closure of the eyes • Overaction of the orbicularis oculi muscle • Myasthenic lid twitch • Slight increase in ptosis on fatigue • Transient recovery of ptosis on gentle eye closure • Impaired ability to bury his eyelashes fully Ocular motility: • Full eye movements • Decompensated exophoria/tropia Intravenous Tensilon Test (edrophonium chloride): The patient received a test dose of 0.1 ml. He had no side effects and a dose of 0.3 ml was given with an immediate positive response and prompt elevation of the ptotic eyelids. A full dose of 1 ml (10 mg) of tensilon was not given. Chest x-ray: Normal Diagnosis: Ocular myasthenia gravis. Treatment: Mestinon 60 mg. q.4h Prednisone 20 mg daily Medication cured the ptosis and reduced the exophoria so that the patient only required a small prism correction. He was followed for over four years with no sign of generalized myasthenia gravis.The video of this patient illustrates the eyelid signs characteristic of ocular myasthenia gravis: • Bilateral ptosis with almost complete closure of the eyes • Overaction of the orbicularis oculi muscle • Myasthenic lid twitch • Slight increase in ptosis on fatigue • Transient recovery of ptosis on gentle eye closure • Impaired ability to bury his eyelashes fully A positive intravenous tensilon test showed: • Full recovery of ptosis • Slight watering of the eyes Lid twitch - Cogan\u27s sign In 1965 Cogan described a transient eyelid retraction occurring during refixation from downgaze to straight ahead gaze. The twitch is an "overshoot" of the eyelid. Cogan\u27s lid twitch sign is not pathopneumonic for MG. It may occur with brainstem or peripheral ocular motor disorders. Ptosis: Ptosis is defined as the lid covering more than 2 mm of the cornea. Ptosis is measured by documenting the width of the palpebral fissure in millimeters with the eyes in primary gaze and the eyebrows held down straight. Approximately 50% of patients with MG present with ptosis. More than 90% eventually develop eye movement abnormalities and typical ocular myasthenia gravis. Of those patients who present only with ocular symptoms, half persist with purely ocular myasthenia and half go on to develop generalized MG. Of those who develop generalized MG, most do so within 2 years of the onset of ocular symptoms.Both thymic hyperplasia and thyoma are associated with MG. Thymic hyperplasia occurs in as many as 65 to 70% of all myasthenic patients, particularly younger patients. It is characterized by infiltration of the thymus with lymphocytes and plasma cells and the formation of lymphoid follicles (germinal centers). Thymoma occur in 5 to 20% of myasthenic patients. The incidence of this tumor increases with age. Patients with thymoma tend to have more severe disease, higher serum titers of AChR antibodies, and more severe abnormalities on EMG than patients without a thymoma. Associated autoimmune diseases: There is a 23% incidence of associated autoimmune disease in patients with thymoma, although no gender predisposition or HLA antigen has been found.Myasthenia gravis is an autoimmune disease caused by sensitized T-helper cells and an IgG-directed attack on the nicotinic acetylcholine receptor of the neuromuscular junction (NMJ). The mechanism of antibody damage to the receptor and motor endplate probably involves several steps. 1. There is a complement-directed attack with the destruction of acetylcholine receptor and the junctional folds. 2. Binding of the antibody to the receptor can cause receptor blockade. 3. The abnormal and reduced numbers of acetylcholine receptors lead to impaired NMJ transmission. 4. In post synaptic disorders such as MG, the number of quanta of acetylcholine released by each nerve stimulus is normal, but the effect of each quantum on its receptor is reduced. 5. The net result is a lower endplate potential and a reduced safety factor of transmission at the NMJ. Clinically this manifests as pathologic fatigability, that is, progressive muscle weakness with use - the hallmark of MG. Patients typically improve after rest or upon arising in the morning, with worsening as the day passes. In MG, fatigue is limited to muscular fatigue alone and often progresses to frank muscle weakness.Autoimmune1. Averbuch-Heller L. Poonyathalang A, von Maydell RD, Remler BF, Hering\u27s law for eyelids: still valid. Neurology 1995;45:1781-1782. http://www.ncbi.nlm.nih.gov/pubmed/7675249 2. Bever CT, Aquino AV, Penn AS, Lovelace RE, Rowland LP, Prognosis of ocular myasthenia. Ann Neurol 1983;14:516-519. http://www.ncbi.nlm.nih.gov/pubmed/6651238 3. Cogan DG. Myasthenia gravis. A review of the disease and a description of lid twitch as a characteristic sign. Arch Ophthalmol 1965;74:217-221. http://www.ncbi.nlm.nih.gov/pubmed/14318498 4. Cogan DG, Yee RD, Gittinger J. Rapid eye movements in myasthenia gravis. I Clinical observations. Arch Ophthalmol 1976;94:1083-1085. http://www.ncbi.nlm.nih.gov/pubmed/938289 5. Daroff, RB. The Office Tensilon Test for Ocular Myasthenia Gravis. Arch Neurol 1986;43:843-844. http://www.ncbi.nlm.nih.gov/pubmed/3729767 6. Elrod RD, Weinberg DA. Ocular myasthenia gravis. Ophthalmol Clin N Am 2004;17:275-309. http://www.ncbi.nlm.nih.gov/pubmed/15337189 7. Golnik KC, Pena R, Lee AG, Eggenberger ER. An Ice Test for the Diagnosis of Myasthenia Gravis. Ophthal 1999;106:1282-1286. http://www.ncbi.nlm.nih.gov/pubmed/10406606 8. Hanisch F, Eger K, Zierz S. MuSK-antibody positive pure ocular myasthenia gravis. J Neurol 2006;253: 659-660. http://www.ncbi.nlm.nih.gov/pubmed/16311895 9. Kaminski HJ, LI Z, Richmonds C, Ruff RL, Kusner L. Susceptibility of Ocular tissues to Autoimmune Diseases. Ann N.Y. Acad Sci 2003;998:362-374. http://www.ncbi.nlm.nih.gov/pubmed/14592898 10. Kupersmith MJ, Latkany R, Homel P. Development of generalized disease at 2 years in patients with ocular myasthenia gravis. Arch Neurol 2003;60:243-248. http://www.ncbi.nlm.nih.gov/pubmed/12580710 11. Leigh JR,Zee DS. Diagnosis of Peripheral Ocular Motor Palsies and Strabismus. Ch 9:385-474. In: The Neurology of Eye Movements 4th Edition Oxford University Press, NY 2006. 12. Meriggioli MN, Sanders DB. Myasthenia gravis: diagnosis. Semin Neurol 2004;24:31. http://www.ncbi.nlm.nih.gov/pubmed/15229790 13. Moorthy G, Behrens MM, Drachman DB, Kirkham TH, Knox DL, Miller NR, Slamovitz TL, Zinreich SJ. Ocular pseudomyasthenia or ocular myasthenia "plus": A warning to clinicians. Neurology 1989;39:1150-1154. http://www.ncbi.nlm.nih.gov/pubmed/2771063 14 Pelak VS, Quan D. Ocular Myasthenia Gravis. In: UpToDate, Rose BD (Ed) UpToDate, Wellesley, MA. 2006. 15. Seybod ME. The Office Tensilon Test for Ocular Myasthenia Gravis. Arch Neurol 1986;43:842-843. http://www.ncbi.nlm.nih.gov/pubmed/3729766 16. Sommer N, Melms A, Weller M, Dichgans J. Ocular myasthenia gravis. A critical review of clinical and pathophysiological aspects. Doc Ophthalmol 1993;84:309-333. http://www.ncbi.nlm.nih.gov/pubmed/8156854 17. Valls-Canals J, Povedano M, Montero J, Pradas J. Stimulated Single-Fiber EMG of the Frontalis and Orbicularis Oculi Muscles in Ocular Myasthenia Gravis . Muscle Nerve 2003;28:501-503. http://www.ncbi.nlm.nih.gov/pubmed/14506723 18. Vincent A, Newsom-Davis J. Anti-acetylcholine receptor antibodies. J Neurol Neurosurg Psychiatry 1980;43:590-600 1980. http://www.ncbi.nlm.nih.gov/pubmed/7400823 19. Wittbrodt ET. Drugs and myasthenia gravis an update. Arch Intern Med 1997:157:399-408. http://www.ncbi.nlm.nih.gov/pubmed/9046891curriculum_fellow; IC-E10dii-myasthenia-gravis; EXAMfatigableptosis; NOTE-5bii1a-fatigable-ptosis; IC-B6cii1a-fatigable-ptosi
Marioni_et_al_AD_GWAS_Sumstats_June2019_Correction - Data supporting Marioni et al. "GWAS on family history of Alzheimer's disease"
No full textData supporting the paper: Marioni, RE, Harris, SE, Zhang, Q, Mcrae, AF, Hagenaars, SP, Hill, WD, Davies, G, Ritchie, CW, Gale, CR, Starr, JM, Goate, AM, Porteous, DJ, Yang, J, Evans, KL, Deary, IJ, Wray, NR & Visscher, PM 2018, 'GWAS on family history of Alzheimer’s disease' Translational Psychiatry, vol. 8, no. 1. DOI: 10.1038/s41398-018-0150-6.
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