973 research outputs found
Current topics in Fabry disease [Aspectos de actualidad en enfermedad de Fabry]
No full textFabry disease is a lysosomal storage disease due to deficiency of the enzyme acid α-Galactosidase, which hydrolysis of globotriaosylceramide, causing its accumulation in cells and body tissues. Most males with classic phenotype have angiokeratoma, acroparesthesias, hypohidrosis and cornea verticilata childhood-onset, and have a marked decrease in life span, death occurs between the fourth and fifth decade of life secondary to renal, cardiovascular and cerebrovascular complications. Carriers female have a wide spectrum of disease severity, from asymptomatic to the presentation of characteristic symptoms as men. Currently, the treatment is enzyme replacement therapy. The aim of this paper is to present a current perspective and advances in Fabry disease
Current topics in Fabry disease [Aspectos de actualidad en enfermedad de Fabry]
No full textFabry disease is a lysosomal storage disease due to deficiency of the enzyme acid ?-Galactosidase, which hydrolysis of globotriaosylceramide, causing its accumulation in cells and body tissues. Most males with classic phenotype have angiokeratoma, acroparesthesias, hypohidrosis and cornea verticilata childhood-onset, and have a marked decrease in life span, death occurs between the fourth and fifth decade of life secondary to renal, cardiovascular and cerebrovascular complications. Carriers female have a wide spectrum of disease severity, from asymptomatic to the presentation of characteristic symptoms as men. Currently, the treatment is enzyme replacement therapy. The aim of this paper is to present a current perspective and advances in Fabry disease
[Current genetic issues and phenotypic variants in Kallmann syndrome]. [Síndrome de Kallmann. Aspectos genéticos y variantes fenotópicas.]
No full textKallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. The hypogonadotropic hypogonadism is due to deficiency of gonadotropin-releasing hormone, caused by a defect in the migration of neurons synthesizing gonadotropin-releasing hormone, and anosmia/hyposmia is related to the absence or hypoplasia of the olfactory bulb and tracts. Some patients may have other associated abnormalities such as renal agenesis, cleft palate, dental agenesis, synkinesis, shortening of metacarpal, sensory neural hearing loss and seizures. The aim of this paper is to present an updated review of the clinical and molecular basis, highlighting the relevance of knowledge of phenotypic variants in Kallmann syndrome
[Current genetic issues and phenotypic variants in Kallmann syndrome]. [Síndrome de Kallmann. Aspectos genéticos y variantes fenotípicas.]
No full textKallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. The hypogonadotropic hypogonadism is due to deficiency of gonadotropin-releasing hormone, caused by a defect in the migration of neurons synthesizing gonadotropin-releasing hormone, and anosmia/hyposmia is related to the absence or hypoplasia of the olfactory bulb and tracts. Some patients may have other associated abnormalities such as renal agenesis, cleft palate, dental agenesis, synkinesis, shortening of metacarpal, sensory neural hearing loss and seizures. The aim of this paper is to present an updated review of the clinical and molecular basis, highlighting the relevance of knowledge of phenotypic variants in Kallmann syndrome
Controllability of timed continuous Petri nets with uncontrollable transitions
No full textBrachial plexus avulsion results from excessive stretching and can occur secondary to motor vehicle accidents, mainly in motorcyclists. In a 28-year-old man with panavulsive brachial plexus palsy, we describe an alternative technique to repair brachial plexus avulsion and to stabilize and preserve shoulder function by transferring the contralateral spinal accessory nerve to the suprascapular nerve. We observed positive clinical and electromyographic results in sternocleidomastoid, trapezius, supraspinatus, infraspinatus, pectoralis, triceps, and biceps, with good outcome and prognosis for shoulder function at 12 months after surgery. This technique provides a unique opportunity for patients suffering from severe brachial plexus injuries and lacking enough donor nerves to obtain shoulder stability and mobility while avoiding bone fusion and preserving functionality of the contralateral shoulder with favorable postoperative outcomes. " 2013 Association of Surgeons of India.",,,,,,"10.1007/s12262-013-1020-3",,,"http://hdl.handle.net/20.500.12104/40340","http://www.scopus.com/inward/record.url?eid=2-s2.0-84890371501&partnerID=40&md5=2ea365539e65a7c73c1763ba7f780910",,,,,,,,"Indian Journal of Surgery",,"
Contralateral Spinal Accessory Nerve Transfer: A New Technique in Panavulsive Brachial Plexus Palsy
No full textBrachial plexus avulsion results from excessive stretching and can occur secondary to motor vehicle accidents, mainly in motorcyclists. In a 28-year-old man with panavulsive brachial plexus palsy, we describe an alternative technique to repair brachial plexus avulsion and to stabilize and preserve shoulder function by transferring the contralateral spinal accessory nerve to the suprascapular nerve. We observed positive clinical and electromyographic results in sternocleidomastoid, trapezius, supraspinatus, infraspinatus, pectoralis, triceps, and biceps, with good outcome and prognosis for shoulder function at 12\ua0months after surgery. This technique provides a unique opportunity for patients suffering from severe brachial plexus injuries and lacking enough donor nerves to obtain shoulder stability and mobility while avoiding bone fusion and preserving functionality of the contralateral shoulder with favorable postoperative outcomes. © 2013 Association of Surgeons of India
Tomographic inversion of focusing operators
No full textSeismic images of the structure of the earth are a prerequisite for finding new hydrocarbon reservoirs. The quality of a seismic images is highly dependent on the accuracy of the velocity model of the subsurface. Conventional imaging consists of an iterative process between obtaining the image using a velocity model, and updating this model by investigating the properties of the image. The Common Focal Point (CFP) method makes it possible to analyze and treat seismic data in a fundamentally different way as it uses a two-step approach: 1) two-way reflection data are transformed into one-way data by estimating focusing operators, and 2) these focusing operators are used to estimate the velocity model by tomographic inversion. This second step, the tomographic inversion of focusing operators, is the subject of this thesis. This research contains two important new aspects. First, the use of focusing operators in (3D) velocity model estimation. Second the data-driven approach of the method. Some additional concepts like the inclusion of a priori information, the joint inversion of P and S-wave operators, and the new concept of the focal point clouds, by which the adequacy of the velocity model can be analyzed, are also addressed. After evaluation of the method of tomographic inversion of focusing operators on both synthetic and real data it can be concluded that the method results in accurate velocity models and is capable of dealing with complex subsurface models.Applied Science
Ophthalmic manifestations in Mexican patients with Fabry disease [Manifestaciones oftalmol�gicas en pacientes mexicanos con enfermedad de Fabry]
No full textFabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme ?-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. Aim: To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients with FD. Material and methods: We studied 13 patients with clinical and biochemical diagnostic of FD. Results: Cornea verticillata was found in 57% of men and 33% carriers. Conclusion: Cornea verticillata was the most common ocular manifestation in males and carriers of FD in Mexico. � 2011 Sociedad Espa�ola de Oftalmologa. Published by Elsevier Espa�a, S.L. All rights reserved
Labeling of HeLa cells using ZrO<inf>2</inf>:Yb3+-Er3+ nanoparticles with upconversion emission
No full textFabry disease (FD) is an X-linked lysosomal storage disease caused by ?-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pattern, and early detection of potentially affected relatives. The present study highlights the importance of pedigree analysis in families with FD for identifying other possibly affected relatives and investigating the clinical manifestations. This clinical report included 12 Mexican index cases with confirmed FD diagnosis. We constructed and analyzed their pedigree, and diagnosed FD in 24 affected relatives. Clinical features were similar to those reported for other populations. Pedigree analysis further identified an additional 30 women as possible carriers. We conclude that pedigree construction and analysis is a useful tool to help physicians detect and diagnose relatives at risk for FD, particularly heterozygous females, so that they can receive genetic counseling and early treatment. Mexican families with FD were similar to other populations reported in the literature, and our findings confirmed that heterozygous females can have signs and symptoms ranging from subtle manifestations to the classical severe presentation described in males. " FUNPEC-RP.",,,,,,"10.4238/2014.August.28.19",,,"http://hdl.handle.net/20.500.12104/43516","http://www.scopus.com/inward/record.url?eid=2-s2.0-84907153993&partnerID=40&md5=f5e6b77784306b3b4121f8b1b60ffc2
Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females
No full textFabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pattern, and early detection of potentially affected relatives. The present study highlights the importance of pedigree analysis in families with FD for identifying other possibly affected relatives and investigating the clinical manifestations. This clinical report included 12 Mexican index cases with confirmed FD diagnosis. We constructed and analyzed their pedigree, and diagnosed FD in 24 affected relatives. Clinical features were similar to those reported for other populations. Pedigree analysis further identified an additional 30 women as possible carriers. We conclude that pedigree construction and analysis is a useful tool to help physicians detect and diagnose relatives at risk for FD, particularly heterozygous females, so that they can receive genetic counseling and early treatment. Mexican families with FD were similar to other populations reported in the literature, and our findings confirmed that heterozygous females can have signs and symptoms ranging from subtle manifestations to the classical severe presentation described in males. © FUNPEC-RP
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