Current topics in Fabry disease [Aspectos de actualidad en enfermedad de Fabry]

Fabry 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

Contralateral Spinal Accessory Nerve Transfer: A New Technique in Panavulsive Brachial Plexus Palsy

Brachial 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

Controllability of timed continuous Petri nets with uncontrollable transitions

Brachial 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",,"

[Current genetic issues and phenotypic variants in Kallmann syndrome]. [Síndrome de Kallmann. Aspectos genéticos y variantes fenotípicas.]

Kallmann 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 fenotópicas.]

Kallmann 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

Labeling of HeLa cells using ZrO<inf>2</inf>:Yb3+-Er3+ nanoparticles with upconversion emission

Fabry 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

Ophthalmic manifestations in Mexican patients with Fabry disease [Manifestaciones oftalmol�gicas en pacientes mexicanos con enfermedad de Fabry]

Fabry 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

Characterization of the 5? and 3? breakpoints of the Spanish (??)0-thalassemia deletion in Mexican patients

The Charcot-Marie-Tooth disease is defined as a sensory-motor polineurophatic abnormality, of demyelinating or axonal type, and genetic and clinical heterogeneity. Objective: This review is intended to update the clinical spectrum of this disease, as well as to know the molecular and therapeutic advances that contribute to understand and manage better this heterogeneous entity. Development: The Charcot-Marie-Tooth disease is a genetically complex syndrome with more than 30 associated genes; it is one of the more common hereditary neuropathies, whose reports indicate an estimated prevalence of 17-25 cases / 100,000 inhabitants. The clinical spectrum is broad, without an established genotype-phenotype correlation; however, there are a number of clinical features that allow their inclusion in several clinical subtypes. Typically, the patients present with distal muscle weakness and atrophy often associated with foot sensory loss and mild to moderate depression of tendon reflexes. Conclusions: The Charcot-Marie-Tooth classification is complex and constantly subject to a review of new genes and mutations. The observed clinical variability coincides with the involvement of different genes and proteins that help maintain function and integrity of the peripheral nerve, so that they become an important research target for developing new and better therapies. " INNN 2012.",,,,,,,,,"http://hdl.handle.net/20.500.12104/40008","http://www.scopus.com/inward/record.url?eid=2-s2.0-84887435229&partnerID=40&md5=4c40cb9231b6f09fa1e175e8b36db5b6",,,,,,"2",,"Archivos de Neurociencias",,"11

Association of the FTO gene SNP rs17817449 with body fat distribution in Mexican women

Polymorphisms in the FTO gene are associated with obesity, body mass index, hip circumference, and visceral and subcutaneous fat area. The objective of this study was to analyze the association of the FTO rs17817449 genetic variant (T>G polymorphism) with body fat distribution patterns in women. We included 65 women and 71 healthy subjects in this study. Anthropometric parameters were determined and laboratory studies were performed. The polymorphism was detected by a PCR-RFLP method. The groups were categorized by type of body fat distribution: gynoid (N = 29) and android (N = 36). We found that the FTO gene polymorphism was not associated with body fat distribution according to the type of obesity (P > 0.05). The contribution of G and T alleles among groups indicated no statistically significant differences between the reference and gynoid group [P = 0.93; odds ratio (OR) = 0.97; 95% confidence interval (CI) = 0.46-2.02] and the reference and android group (P = 0.56; OR = 1.20; 95%CI = 0.54-2.82). Thorax circumference and thorax breast circumference were significantly different between the two groups (P = 0.009 and 0.021, respectively) with the genotype TT. We conclude that the FTO rs17817449 TT genotype predisposes individuals to fat deposition in the thoracic and breast region; individuals carrying this genotype had a decrease in thoracic and breast dimensions indirectly causing the gynoid phenotype in Mexican women. Zapotitlán FUNPEC-RP

Charcot-marie-tooth: Present situation and prospects [Enfermedad de charcot-marie-tooth: Actualidad perspectivas]

The Charcot-Marie-Tooth disease is defined as a sensory-motor polineurophatic abnormality, of demyelinating or axonal type, and genetic and clinical heterogeneity. Objective: This review is intended to update the clinical spectrum of this disease, as well as to know the molecular and therapeutic advances that contribute to understand and manage better this heterogeneous entity. Development: The Charcot-Marie-Tooth disease is a genetically complex syndrome with more than 30 associated genes; it is one of the more common hereditary neuropathies, whose reports indicate an estimated prevalence of 17-25 cases / 100,000 inhabitants. The clinical spectrum is broad, without an established genotype-phenotype correlation; however, there are a number of clinical features that allow their inclusion in several clinical subtypes. Typically, the patients present with distal muscle weakness and atrophy often associated with foot sensory loss and mild to moderate depression of tendon reflexes. Conclusions: The Charcot-Marie-Tooth classification is complex and constantly subject to a review of new genes and mutations. The observed clinical variability coincides with the involvement of different genes and proteins that help maintain function and integrity of the peripheral nerve, so that they become an important research target for developing new and better therapies. © INNN 2012