Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

Background: Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients.

Methods: We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency.

[Complete androgen insensitivity syndrome: diagnosis and multidisciplinary management].

Background: Complete androgen insensitivity syndrome (CAIS) is a sexual differentiation disorder, caused by a defect in the androgen receptor gene (AR; OMIM# 313700). It is characterized by the resistance of target tissues to the action of testosterone, which prevents normal male genital development. The objective is to describe a family case of CAIS and highlight the importance of multidisciplinary medical management and early diagnosis of this syndrome.

Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.

Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked disorder of recessive inheritance, characterized by short stature and facial, skeletal, and urogenital abnormalities. AAS is caused by mutations in the FGD1 gene (Xp11.22), with over 56 different mutations identified to date.

[Zoledronic acid (zoledronate) in children with osteogenesis imperfecta].

Introduction: Zoledronic acid or zo/edronate is a potent bisphosphonate that recently has been used in children with osteoporosis and osteogenesis imperfecta (01), so it could be an option in the treatment of children with this terrible disease that virtually condemns them to a life of pain and prostration. The aim of this study was to evaluate the clinical and biochemical conditions of pediatric patients with 01 before and after treatment with zo /edronate.

Results: We included 14 patients, median age six years (6 months to 14 years), eight (57.

[Diagnosis and treatment of Pompe disease].

Pompe disease is a rare, progressive and often fatal neuromuscular disorder. It is caused by a deficiency of the lysosomal alpha-glucosidase. Among glycogen storage disorders, it is one of the most common.

Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features.

We report here a child with a ring chromosome 2 [r(2)] associated with failure to thrive, microcephaly and dysmorphic features. The chromosomal aberration was defined by chromosome microarray analysis, revealing two small deletions of 2p25.3 (139 kb) and 2q37.

Chromosome abnormalities in northeastern Mexico: ten years of experience in a private laboratory (1999-2009).

Throughout the world, chromosome alterations are one of the main causes of major malformations in newborns and of multiple clinical characteristics in patients of other ages. The present study had as its principle objective to determine the distribution of chromosome alterations obtained from 1999-2009 at a private laboratory located in Monterrey, Nuevo Leon state, Mexico, and that received samples from other northeastern Mexican states. We studied 1,652 cases of peripheral blood karyotypes.