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Taquez-Castro C.L.,Centro Medico Nacional | Miron-Garcia J.,Nefrologo Pediatra | Olalde-Carmona R.,Nefrologo Pediatra
Revista Mexicana de Pediatria | Year: 2016

Central diabetes insipidus is characterized by a defi ciency of antidiuretic hormone, which mainly regulates the ability to concentrate urine, among other functions. Its defi cit generates polyuria and hypotonic urine. We present the case of a teenager who debuts with polyuria, polydipsia, progressive symptoms of neurological impairment, in whom tumor of the pineal region is detected. Then he was scheduled for surgery, so the water intake was restricted, but polyuria increased and later he developed hypernatremia, low urine osmolality and increased serum osmolarity. Using our institutional diagnosis algorithm it led to the diagnosis of central diabetes insipidus, so, we increased water intake and intranasal vasopressin (10 μg) was administered. Clinical aspects and laboratory studies subsequently improved. Pathological diagnosis corresponds to a germ cell tumor in the pineal region, this tumor compromises the hypothalamic- pituitary system. The presentation of the institutional algorithm intends to use clinical criteria and few laboratory studies for the diagnosis and treatment of a condition, whose onset, exacerbation and management determine the quality of life of pediatric patients.

Chaurand-Lara J.,Centro Medico Nacional 20 Of Noviembre | Pacheco-Ruiz L.,Centro Medico Nacional 20 Of Noviembre | Mendez-Rosito D.,Centro Medico Nacional
Revista Espanola de Cirugia Oral y Maxilofacial | Year: 2016

Malignant peripheral nerve sheath tumours (MPNSTs), also called neurofibrosarcomas or malignant schwannomas, represents 10% of all soft tissue sarcomas. The tumour is usually found in the lower extremities, and only 10 to 20% of all lesions occur in head and neck region, thus making it a rare entity. Neurofibroma is one of the common nerve sheath tumours occurring in the soft tissues, and generally appears in neurofibromatosis 1 or Von Recklinghausen's disease. Individuals with a family history of neurofibromatosis 1 are reported to have an increased risk of developing MPNSTs in their lifetime. However, this association is not seen in MPNSTs of the cranial nerves. In this study, the authors reviewed the current literature on MPNSTs of the trigeminal nerve to analyse the presentations, treatment options, and outcomes for patients with this disease, as well as the report of a case involving the 3 branches of the trigeminal nerve. © 2014 SECOM.

PubMed | Centro Medico Nacional, National Autonomous University of Mexico, Umae Hospital Of Gineco Pediatria No 48, Centro Medico Nacional 20 Of Noviembre and Institute Oftalmologia Conde Of Valenciana
Type: Journal Article | Journal: Systems biology in reproductive medicine | Year: 2016

Spino-bulbar muscular atrophy (SBMA) is an X-linked recessive adult progressive disorder affecting motor neurons. It is caused by a poly-glutamine tract expansion in the androgen receptor (AR) which generates protein aggregates that cannot be processed by proteasomes. A secondary mild androgen resistance is developed by AR dysfunction and patients present endocrine abnormalities including gynecomastia and poor function of testosterone in tissues; however, normally they are fertile. In this report we describe a Mexican family with three affected brothers with primary infertility caused by a progressive impairment of spermatogenesis leading to azoospermia before 40 years of age. They presented common features associated to patients affected by SMBA, such as gynecomastia, high level of CPK, muscle cramps, fasciculations, muscle wastage, and impaired swallowing. Two intracytoplasmic sperm injection (ICSI) cycles were performed in one of the patients resulting in fertilization failure. Molecular analysis of AR gene exon 1 revealed 54 CAG repeats in DNA extracted from leukocytes in affected patients and 22 repeats in the fertile non-affected brother. Severe impaired spermatogenesis of rapid progression has not been associated before to SBMA. This is the first report of assisted reproduction techniques indicated by male infertility in patients with this rare disorder. Further studies are required to confirm the unusual result of intracytoplasmic sperm injection cycles. We discuss the implications and possible pathogenesis of these unique features of SBMA in this family.

Pina-Aguilar R.E.,Centro Medico Nacional | Zaragoza-Arevalo G.R.,Centro Medico Nacional | Rau I.,University of Hamburg | Gal A.,University of Hamburg | And 3 more authors.
European Journal of Medical Genetics | Year: 2013

We report a Mexican girl showing the full blown clinical picture of mucopolysaccharidosis type II (MPSII). Iduronate-2-sulfatase (IDS) activity was low and she carried a heterozygous de novo c.1327C>T transition in exon 9, that changes codon 443 for a premature stop (TGA; p.Arg443*). Analysis of X-chromosome inactivation in androgen receptor (AR) locus showed a highly skewed ratio of 92:8 suggesting a functional hemizygosity with dominant expression of the mutant IDS and explaining the disease manifestation. This is one of the rare cases of females affected by MPSII due to the combined effect of a skewed X-chromosome inactivation and a de novo IDS mutation. We recommend that clinicians should consider the diagnosis of MPSII even in a girl without positive family history for this condition. © 2012 Elsevier Masson SAS.

PubMed | Centro Medico ABC, Centro Medico Nacional, Hospital Of Cardiologia No 34, Hospital Universitario Dr Jose nzalez and 4 more.
Type: | Journal: Archivos de cardiologia de Mexico | Year: 2016

REMEHIP is a prospective, multicentre registry on pulmonary hypertension. The main objective will be to identify the clinical profile, medical care, therapeutic trends and outcomes in adult and pediatric Mexican patients with well-characterized pulmonary hypertension.REMEHIP a multicenter registry began in 2015 with a planned recruitment time of 12 months and a 4-year follow-up. The study population will comprise a longitudinal cohort study, collecting data on patients with prevalent and incident pulmonary hypertension. Will be included patients of age >2 years and diagnosis of pulmonary hypertension by right heart catheterization within Group 1 and Group 4 of the World Health Organization classification. The structure, data collection and data analysis will be based on quality current recommendations for registries. The protocol has been approved by institutional ethics committees in all participant centers. All patients will sign an informed consent form. Currently in Mexico, there is a need of observational registries that include patients with treatment in the everyday clinical practice so the data could be validated and additional information could be obtained versus the one from the clinical trials. In this way, REMEHIP emerges as a link among randomized clinical trials developed by experts and previous Mexican experience.

PubMed | Hospital General Of Mexico, Hospital para el Nino, Instituto Nacional Of Ciencias Medicas Y Nutricion Salvador Zubiran, Centro Medico Nacional and 4 more.
Type: Journal Article | Journal: Gene | Year: 2015

Wolfram syndrome (WS) is a severe autosomal recessive pleiotropic disease primarily characterized by the association of juvenile-onset diabetes mellitus and optic atrophy. Earlier reports have shown that a proportion of WS cases may remain unrecognized due to misdiagnosis as type 1 diabetes mellitus (T1DM). The objectives of this work were to estimate the prevalence of patients fulfilling clinical criteria for WS in a cohort of subjects diagnosed as T1DM and to identify causal WFS1 gene mutations in those individuals meeting clinical criteria for the disease.A cohort of 131 unrelated Mexican T1DM patients was collected, including 77 females and 54 males. Additional clinical anomalies suggesting WS were identified through review of medical files, detailed physical examination and/or specialized tests. WFS1 gene analysis was performed using exon-by-exon PCR amplification and direct Sanger sequencing on genomic DNA from patients reaching WS clinical criteria.Clinical criteria for a WS diagnosis were reached in 6 probands, corresponding to a 4.58% frequency of the disease. WFS1 mutations were identified in 4 out of 5 (80%) individuals fulfilling WS clinical criteria, including two homozygous, one compound heterozygous, and one patient with a single allele mutation. No WFS1 mutations were identified in the remaining subject.In our cohort, approximately 6% of cases diagnosed as T1DM were in fact patients with Wolfram syndrome. WFS1 mutations were identified in 4 out of 5 individuals (80%) fulfilling clinical criteria for WS. Clinical and genetic analyses of large cohorts of T1DM patients from different ethnic origins would help to better estimate the occurrence of WS and will lead to a better management of such patients.

PubMed | Centro Medico Nacional, Hospital Civil Dr Juan I Menchaca, Hospital Of Especialidades, University of Guadalajara and 4 more.
Type: Journal Article | Journal: Auto- immunity highlights | Year: 2016

Antinuclear autoantibodies (ANA) targeting the dense fine speckled antigen DFS70, also known as lens epithelium-derived growth factor p75 (LEDGF/p75), are attracting attention due to their low frequency in systemic rheumatic diseases but increased frequency in clinical laboratory referrals and healthy individuals (HI). These ANA specifically recognize the stress protein DFS70/LEDGFp75, implicated in cancer, HIV-AIDS, and inflammation. While their frequency has been investigated in various ethnic populations, there is little information on their frequency among Hispanics/Latinos. In this study, we determined the frequency of anti-DFS70/LEDGFp75 autoantibodies in Mexican Hispanics using multiple detection platforms.The frequency of anti-DFS70/LEDGFp75 antibodies was determined in 171 individuals, including 71 dermatomyositis (DM) patients, 47 rheumatoid arthritis (RA) patients, 30 obesity (OB) patients, and 23 HI. Antibody detection was achieved using four complementary assay platforms: indirect immunofluorescence, Western blotting, ELISA, and chemiluminescent immunoassay.We detected relatively low frequencies of anti-DFS70/LEDGFp75 antibodies in patients with DM (1.4%), RA (4.3%), and OB (6.6%), and elevated frequency (17.4%) in HI. A strong concordance between the different antibody detection platforms was observed.The low frequency of anti-DFS70/LEDGFp75 antibodies in Mexican patients with rheumatic diseases, but relatively higher frequency in HI, is consistent with previous observations with non-Hispanic populations, suggesting that geographic differences or ethnicity do not influence the frequency of these autoantibodies. Our results also highlight the importance of confirmatory assays for the accurate detection of these autoantibodies. Future studies with larger cohorts of healthy Hispanics/Latinos are needed to confirm if their anti-DFS70/LEDGFp75 antibody frequencies are significantly higher than in non-Hispanics.

Rendon-Huerta E.,National Autonomous University of Mexico | Teresa F.,National Autonomous University of Mexico | Teresa G.M.,Centro Medico Nacional | Xochitl G.-S.,Servicio Gastroenterologia | And 3 more authors.
Journal of Gastrointestinal Cancer | Year: 2010

Introduction: Intestinal- and diffuse-type gastric adenocarcinomas differ in clinical outcome and genetic profile. Abnormal claudin expression has been well documented in several malignancies. Our aim was to find specific claudin markers for each type. Methods: Fifty paraffin-embedded tissue blocks of diffuse- and intestinal-type gastric adenocarcinomas and fresh gastric biopsies obtained endoscopically from 20 patients with a presumptive diagnosis of gastric cancer were analyzed. Claudin-specific polyclonal and monoclonal antibodies were used for immunohistochemistry and Western blot analysis in total lysate and subcellular fractions. Results: Claudin-6 expression was high in both types. Claudin-7 was expressed mainly in the diffuse-type whereas claudin-9 was mainly found in the apical membrane of the gland cells in the intestinal-type. Strong claudin-9 expression was associated with higher mortality rate (66%) in the diffuse type vs the intestinal type (25%) after a 2-year follow-up. Conclusion: Claudins 6, 7, and 9 expressions are closely related to gastric carcinogenesis, and their detection is a useful prognostic marker in "intestinal-" and "diffuse-type" gastric adenocarcinomas. © 2009 Humana Press Inc.

PubMed | CINVESTAV, Centro Medico Nacional, University of Buenos Aires and National University of La Plata
Type: | Journal: Epilepsy research | Year: 2016

About 30% of the patients with epilepsy do not respond to clinically established anticonvulsants, despite having effective concentrations of the antiepileptic drug in plasma. Therefore, new preclinical models of epilepsy are needed to identify more efficacious treatments. We describe here a new drug-resistant seizure model in mice to be used at the early stages of pre-clinical trials. This model consists in inducing daily generalized seizures for 23 consecutive days by administration of 3-mercaptopropionic acid (MP). As a result, 100% of animals become resistant to phenytoin and 80% to phenobarbital. Such resistance is strongly associated with the overexpression of P-glycoprotein (Pgp), observed in cerebral cortex, hippocampus and striatum while resistance to Pgp nonsubstrate drugs such as carbamazepine, diazepam and levetiracetam is not observed. This model could be useful for screening novel anticonvulsant drugs with a potential effect on pharmacoresistant seizures treatment.

Hernandez Guinea B.D.,Centro Medico Nacional | Hernandez Santos J.R.,Centro Medico Nacional | Tenopala Villegas S.,Centro Medico Nacional | Canseco Aguilar C.P.,Centro Medico Nacional | Torres Huerta J.C.,Centro Medico Nacional
Revista de la Sociedad Espanola del Dolor | Year: 2012

Objective: to determine the efficacy of epidural and paravertebral infiltration of ozone at a concentration of 30 μg/ml for chronic pain control in patients with failled back surgery syndrome. Method: a quasi-experimental clinical trial, prospective study, in 30 patients with chronic pain secondary to lumbar post laminectomy syndrome, with a total of 4 injections of ozone, in the first procedure 20 ml infiltration of ozone at 30 μg/ml caudal epidural, in addition to infiltrate 10 ml of ozone at the same concentration paravertebral lumbar level at L3, L4 and L5 bilaterally, with a total of 60 ml muscular paravertebral. Performing the following injections each week for three weeks only in the muscular paravertebral region. Pain was assessed by visual analog scale and function by Oswestry Disability Index, following the initial procedure, a week, 4 weeks and 2 months. Results: with 30 patients studied 70% were women (21) and 30% male (9). Not found improvement in pain relief according to the evaluation of the visual analog scale, with a starting average of 7.2 and a final 7.4, no statistical significance. In functional capacity evaluated by the Oswestry disability index, initial 63.47 and final 64.37, without a statistical significance. The complications were pain after to the application 40% (12),increased disability 13.33% (4) and headache 3% (1). Conclusion: the use of epidural and paravertebral ozone at a concentration of 30 μg/ml, is not effective for the relief of chronic pain secondary to post laminectomy syndrome. © 2012 Sociedad Española del Dolor. Published by Arán Ediciones, S.L.

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