A5053916754- Cleft Lip and Palate Research
- Tuberous Sclerosis Complex Research
- Craniofacial Disorders and Treatments
- Congenital heart defects research
- Renal cell carcinoma treatment
- Congenital Heart Disease Studies
- Mitochondrial Function and Pathology
- Tracheal and airway disorders
- Forensic Entomology and Diptera Studies
- Genetic and Kidney Cyst Diseases
- Ocular Disorders and Treatments
- Metabolism and Genetic Disorders
- dental development and anomalies
- Lysosomal Storage Disorders Research
- Esophageal and GI Pathology
- Dermatological diseases and infestations
- Genetics and Neurodevelopmental Disorders
- Histiocytic Disorders and Treatments
- Muscle Physiology and Disorders
- Yersinia bacterium, plague, ectoparasites research
- Insect Utilization and Effects
- Insects and Parasite Interactions
- Cellular transport and secretion
- Biochemical and Molecular Research
- Cardiomyopathy and Myosin Studies
Instituto Nacional de Pediatria
2012-2024
Secretaria de Salud
2014-2024
National Institute of Genomic Medicine
2022
Centro de Epilepsia y Neurocirugía Funcional
2019-2020
Universidad Nacional Autónoma de México
2009-2015
Neoechinorhynchus golvani is an intestinal parasite of freshwater and brackish water fishes distributed in Mexico. The genetic variability 40 samples representing 12 populations from north, south, central Mexico, 1 Costa Rica, was estimated by sequencing 2 nuclear genes (ITS1, 5.8S, ITS2, LSU rDNA, including the domain D2 D3). length both ranged 700 to 779 base pairs (bp) 813 821 bp, for ITSs LSU, respectively. divergence among 19.5 35.3% with 9.28 19.58% LSU. Maximum likelihood maximum...
Abstract The aim of this study was to improve knowledge the mutational spectrum causing tuberous sclerosis complex (TSC) in a sample Mexican patients, given limited information available regarding disease Mexico and Latin America. Four different molecular techniques were implemented identify from single nucleotide variants large rearrangements TSC1 TSC2 genes 66 unrelated Mexican-descent patients that clinically fulfilled criteria for definitive TSC diagnosis. mutation detection rate 94%,...
Several recent studies have demonstrated that virulence in Entamoeba histolytica is triggered the presence of both pathogenic and nonpathogenic bacteria species using vitro vivo experimental animal models. In this study, we examined samples aspirated from abscess material obtained patients who were clinically diagnosed with amebic liver (ALA) or pyogenic (PLA). To determine diversity bacterial abscesses, performed partial 16S rRNA gene sequencing. addition, E. dispar genotyped tRNA-linked...
Non‐syndromic cleft lip/palate ( NSCL / P ) is a common congenital defect in M exico. Periconceptional intake of folic acid FA may reduce the risk this malformation. Although 5,10‐methylenetetrahydrofolate reductase MTHFR enzyme participates folate metabolism, several studies failed to find any association between and C 677 T A 1298 polymorphisms. However, interactions among , gene polymorphisms, have not been explored exican populations. This case–control study included 132 patients with...
Nonsyndromic cleft lip with or without palate (NSCL/P) is a common craniofacial birth defect that has complex etiology. Genome-wide association studies have recently identified new loci associated NSCL/P, but these not been analyzed in Mexican Mestizo population. A etiology implies the presence of genetic interactions, there little available information regarding this and no signaling pathway clearly implicated humans. Here, we associations 24 single nucleotide polymorphisms (SNPs) NSCL/P...
Allan-Herndon-Dudley syndrome (AHDS) is an X-linked type of mental retardation resulting from hindered thyroid hormone access to neurons. Clustered nonrecurrent deletions SLC16A2 exon 1 have been described in three patients with AHDS. We report a fourth patient such deletion and discuss possible mechanisms leading these rearrangements.A three-and-a-half-year-old male clinical biochemical AHDS phenotype history normal neonatal screening for hypothyroidism underwent molecular analysis....
The complete mutational spectrum of dystrophinopathies and limb-girdle muscular dystrophy (LGMD) remains unknown in Mexican population. Seventy-two unrelated male patients (73% pediatric age) with clinical suspicion no evidence DMD gene deletion on multiplex polymerase chain reaction (mPCR) analysis were analyzed by ligation-dependent probe amplification (MLPA). Those a normal result subjected to Sanger sequencing or next-generation for plus 10 selected LGMD-related genes. We achieved...
About 80% of patients with tuberous sclerosis complex (TSC) present renal involvement, usually as angiomyolipomas followed by cystic disease. An early diagnosis polycystic kidney disease (PKD) in such is frequently related to the TSC2/PKD1 contiguous gene syndrome (PKDTS). Molecular confirmation PKDTS important for a prompt diagnosis, which can be complicated phenotypic heterogeneity PKD and absence clear phenotype-genotype correlation. Herein, we report three pediatric patients. The case 3...
The clinical diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when microtia present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, renal malformations. Genetic and non-genetic factors have been associated microtia/OAVS. Although the etiology remains unknown most patients, some cases may an autosomal dominant, recessive, or multifactorial inheritance. Among possible genetic factors, gene−gene interactions play important roles complex diseases, but...
Folliculocystic and collagen hamartoma (FCCH) is a rare entity with only 18 reported cases worldwide. Of them, most are found in patients diagnosed tuberous sclerosis complex (TSC). FCCH has distinctive histopathologic features, including deposition the dermis, perifollicular fibrosis, comedones keratin-containing cysts lined by infundibular epithelium. We report three definitive TSC clinical diagnosis whom clinical, histopathologic, molecular features were studied to establish if there...
<title>Abstract</title> Purpose Human ophthalmomyiasis is a rare ocular parasitosis that results from the accidental infestation of dipteran larvae several species, including <italic>Oestrus ovis</italic> (Linnaeus, 1758). This study aims to present fourth documented human case in Mexico, identifying etiological agent through morphological and molecular analyses. Additionally, we investigated phylogenetic position genetic distances among different individuals globally characterized based on...
Abstract Inherited and developmental eye diseases are quite diverse numerous, determining their genetic cause is challenging due to high allelic locus heterogeneity. New molecular approaches, such as whole exome sequencing (WES), have proven be powerful tools for addressing these cases. The present study used WES identify the etiology in ten unrelated Mexican pediatric patients with complex ocular anomalies other systemic alterations of unknown etiology. approach allowed us five clinically...
Biochemical phenotyping has been the milestone for diagnosing and managing patients affected by inborn errors of intermediary metabolism (IEiM); however, identifying genotype responsible these monogenic disorders greatly contributes to achieving goals. Herein, whole-exome sequencing (WES) was used determine genotypes 95 unrelated Mexican pediatric suspected having IEiM. They were classified into those bearing specific biochemical abnormalities (Group 1), presenting unspecific profiles 2)....
Objective: To screen for interferon regulatory factor 6 (IRF6) pathogenic variants in patients clinically diagnosed with nonsyndromic cleft lip palate (NSCL/P) and establish the proportion of misdiagnosed Van der Woude syndrome (VWS) cases, which could have biased previous NSCL/P case–control association studies. Design: Retrospective case series. Setting: Tertiary care children’s hospital. Participants: One hundred seventy-two unrelated Mexican NSCL/P, 128 whom had previously been included...
We present an unusual Mexican patient affected with mucopolysaccharidosis type IIIB (MPS IIIB; also called Sanfilippo B syndrome, MIM #252920) bearing clinical features that have not previously been described for MPS (growth arrest, hypogonadotropic hypogonadism, and congenital heart disease). Chromosomal microarray analysis was useful in identifying runs of homozygosity at 17q11.1-q21.33 supporting the diagnosis underlying autosomal recessive condition. Sanger sequencing NAGLU (17q21.2,...
About 80% of patients with tuberous sclerosis complex (TSC) present renal involvement, usually as angiomyolipomas followed by cystic disease. An early diagnosis polycystic kidney disease (PKD) in such is frequently related to the TSC2/PKD1 contiguous gene syndrome (PKDTS). Molecular confirmation PKDTS important for a prompt diagnosis, which can be complicated phenotypic heterogeneity PKD and absence clear phenotype–genotype correlation. Herein, we report three pediatric patients. The case 3...