1,721,055 research outputs found
Endocrine disorders in two sisters affected by MELAS syndrome
No full textA variety of endocrine and metabolic defects, including hypothalamopituitary hypofunction and diabetes mellitus, has been reported in association with mitochondrial disorders. We describe two sisters affected by mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome in whom DNA analysis showed an A-->G transition at the 3243rd nucleotide position on the transfer RNALeu(UUR) gene with 65% and 45% of mutant-type mitochondrial DNA present in the blood cells of the younger and the older sister, respectively. The younger sister had severe involvement of the central nervous system with mental retardation, epilepsia partialis continua, and strokelike episodes. Endocrine investigations showed an extensive neuroendocrine dysfunction with growth hormone deficiency, hypothalamopituitary hypothyroidism, prepubertal gonadotropin levels, and absence of any secondary sexual characteristics at the age of 12 6/12 years. The neurologically normal older sister was affected by diabetes mellitus and had normal hypothalamopituitary function. Our report confirms that the endocrine system can be affected differently by the same mitochondrial DNA mutation, depending on the heteroplasmia phenomenon. A complete endocrine evaluation must be performed in patients affected by mitochondrial disease and the existence of a mitochondrial disorder should be taken into account in patients with endocrine abnormalities, even if neuromuscular signs are lacking
A Simple and New Device to Avoid Hepatic Venous Outflow Obstruction in Adult Liver Transplantation
No full textHepatic venous drainage in liver transplantation may be reduced to the level of caval anastomosis producing an obstruction degree and leading to serious vascular complication such as the acute Budd-Chiari syndrome, which may result in organ loss. Outflow obstruction may be caused by lack of technique in caval anastomo-sis or by allograft malposition as a consequence of anatomical graft and recipient conditions. Fixation of the round ligament, placement of bowel loops and use of tissue expanders have been described to stabilize graft position during liver transplantation with related procedure complications. We report our experience of a simple homemade device using a surgical glove expander that allowed us to successfully avoid outflow ob-struction in all of nine treated patients. No device related complications occurred. In malposed liver al-lografts, we strongly suggest the use of this simple and safe device to avoid hepatic venous outflow obstruc-tion on condition that the device is early removed within 48 hours
Epilepsy in Prader-Willi syndrome: clinical, diagnostic and treatment aspects
No full textBACKGROUND:
Epilepsy associated with Prader-Willi syndrome (PWS) represents an early and important complication, often not clearly reported and described in the literature. Consequently, there are controversial data about the clinical characteristics of epilepsy and electroencephalographic (EEG) abnormalities found in these patients.
DATA SOURCES:
Based on recent original publications, we have reviewed the different types of seizures and EEG findings in PWS patients, the response to antiepileptic treatment, and the prognosis of epilepsy.
RESULTS:
The frequency of epilepsy in PWS patients ranges from 4% to 26%. The types of seizure include generalized tonic-clonic seizures, complex partial seizures, atypical absence, staring spells, and myoclonic, tonic and hemiclonic seizures, but the most frequent type is focal epilepsy. Status epilepticus has never been reported. EEG abnormalities are not typical but variable in different patients. However, generalized and focal discharges are the most frequently reported findings. There is no evidence of relationship between the course of epilepsy and frequency, morphology and spread of EEG discharges. However, epilepsy in PWS patients is usually responsive to antiepileptic monotherapy with rapid seizure control and a good outcome.
CONCLUSIONS:
The frequency of epilepsy is higher in PWS patients than in general populations and this complication can be a challenge for the clinicians of these patients. Prospective studies are needed to confirm the good long-term prognosis
Management of status dystonicus in children. Cases reportand review
No full textStatus dystonicus (SD) is a medical emergency weighed by a relevant morbidity and mortality. It mainly affects patients with primary or secondary dystonia and is often triggered by events such as fever, infections, exposure medications or their abrupt cessation. We report on three patients presenting with SD. Two of them were affected by a static encephalopathy and the other one by a neurodegenerative disorder such as megalencephalic leukoencephalopathy with subcortical cysts (MLC). To our knowledge this is the first patient affected by MLC presenting with SD. All our patients underwent continuous infusion of midazolam, in association with pimozide and trihexyphenidyl, which led to complete resolution of muscular spasms in two patients. In the other one a complete cessation of dystonic spasms was obtained after intrathecal baclofen. From a therapeutic point of view there are no evidence-based management guidelines in SD. The approach is empiric and based on very limited anecdotal reports. On the basis of our observations and an extensive review of the literature we delineated a possible therapeutic strategy of SD in children
Subcortical low-intensity and restricted diffusion after first seizure in a child
No full textOur purpose was to increase the knowledge about subcortical low-intensity images on long repetition time by describing brain magnetic resonance images of a young boy after his first spontaneous seizure. Evident in the epileptogenic area were transient images of reversible subcortical low intensity on long-repetition time, T2*-weighted, and b = 0 s/mm(2) diffusion, isointense signal on b = 1000 s/mm(2) diffusion, and restricted diffusion. Most likely, mechanism was axonal flow disruption with iron accumulation and free radicals production induced during seizure
Thyroid function in small for gestational age newborns: A review
Full text linkSeveral studies have shown that small for gestational age (SGA) babies have a different hormonal profile than those born with a birth weight appropriate for gestational age (AGA). Thyroid hormones play an important role in growth and neurocognitive development. Only few studies analyzed the concentrations of thyroid-stimulating hormone (TSH) and thyroxine (T4) during fetal and extrauterine life in SGA and AGA newborns, and the existing data on the possible alterations of these hormones in postnatal life are controversial. It remains to be established whether SGA newborns have different blood concentrations of thyroid hormones as compared with AGA infants and if so, whether these findings play a role in the development of obesity, short stature, hypertension, and diabetes - disorders, already known to be related with SGA birth. It has also not yet been established whether and when substitutive therapy with levothyroxine (LT4) should be initiated in preterm and full-term SGA newborns. Further trials are needed to determine the thyroid hormone profile in both preterm and full-term SGA newborns and also to evaluate the effectiveness and safety of LT4 treatment in these infants
Lamotrigine in typical absence epilepsy
No full textLamotrigine (LTG) is an anti-epileptic drug effective in partial seizures and generalized epilepsy. There is growing evidence of the usefulness of LTG in childhood (CAE) or juvenile (JAE) absences resistant to previous treatment. In this study all patients were identified using strict diagnostic criteria and subdivided into two groups. (1) Eight patients affected by absence seizures resistant to valproic acid or ethosuximide, received LTG as an-add-on therapy, (2) seven patients affected by typical absence seizures not previously treated, received LTG monotherapy after the diagnosis. In the patients with resistant absence seizures, a full control of seizures was obtained. In five of them, after a mean period of 12.5 months, the previous anti-epileptic drugs were withdrawn leaving the patients on LTG monotherapy. In one patient, absences relapsed and valproic acid was therefore added again to LTG to regain control of the seizures. In six of the seven patients on LTG monotherapy after the diagnosis, a full control of seizures was obtained. In the seventh patient the drug was stopped due to a skin rash.
In conclusion LTG appears to be effective in resistant absence seizures in combination with valproic acid. Moreover, our preliminary data suggest that lamotrigine might be used as monotherapy in typical absence seizures. The advantages and disadvantages of LTG monotherapy in this type of epilepsy are discussed
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