A5076998829- BRCA gene mutations in cancer
- Congenital Anomalies and Fetal Surgery
- Nutrition, Genetics, and Disease
- Urological Disorders and Treatments
- Prenatal Screening and Diagnostics
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Pancreatic and Hepatic Oncology Research
- Neurological diseases and metabolism
- Hedgehog Signaling Pathway Studies
- Genomic variations and chromosomal abnormalities
- Birth, Development, and Health
- Fetal and Pediatric Neurological Disorders
- Assisted Reproductive Technology and Twin Pregnancy
- Congenital limb and hand anomalies
- Genetic and rare skin diseases.
- Liver physiology and pathology
- Dermatological and Skeletal Disorders
- Tracheal and airway disorders
- Neuroscience of respiration and sleep
- Urinary and Genital Oncology Studies
- Genetics, Bioinformatics, and Biomedical Research
- RNA regulation and disease
- Congenital Diaphragmatic Hernia Studies
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán
2014-2025
Triangle
2019
Indianapolis Zoo
2019
Kentucky Science Center
2019
John Wiley & Sons (United States)
2019
Abstract BACKGROUND: The prevalence of esophageal atresia (EA) has been shown to vary across different geographical settings. Investigation differences may provide an insight into the underlying etiology EA. METHODS: study population comprised infants diagnosed with EA during 1998 2007 from 18 46 birth defects surveillance programs, members International Clearinghouse for Birth Defects Surveillance and Research. Total per 10,000 births was defined as total number cases in live births,...
PURPOSE The purpose ot this study was to assess the effectiveness of an educational video compared in-person genetic counseling for cancer testing candidates. Genetic risk assessment is essential tailoring oncological treatment, identifying individuals at higher cancer, implementing risk-reduction strategies, and enabling family cascade testing. Pretest facilitates individual’s informed decision making reduces anxiety. However, availability genetics specialists limited in constrained...
Omphalocele is the second most common abdominal birth defect and often occurs with other structural genetic defects. The objective of this study was to determine omphalocele prevalence, time trends, mortality during early childhood, by geographical region, presence associated anomalies.We conducted a retrospective 23 surveillance systems in 18 countries who are members International Clearinghouse for Birth Defects Surveillance Research that submitted data on cases ascertained from 2000...
Genomic cancer risk assessment (GCRA) is standard-of-care practice that uses genomic tools to identify individuals with increased risk, enabling screening for early detection and prevention interventions. GCRA not available in most of Mexico, where breast (BC) the leading cause death ovarian has a high mortality rate.
Background: The phenotypic heterogeneity of transthyretin amyloidosis (ATTR) familial polyneuropathy may be linked to the type mutation and environmental factors. A gender difference in relation severity disease has been suspected. More than 100 different pathogenic variants hereditary (TTR) mutations have reported. Objective: To describe 32 patients with confirmed TTR Ser50Arg from same geographical origin. Methods: Seven families up four affected generations underwent genetic testing...
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by iron accumulation in the brain, because of mutations PANK2 gene. Phenotypic and genotypic characteristics 11 patients from five Mexican families with PKAN disease are reported. Sequencing confirmed diagnosis. The had dysarthria associated dystonia Parkinsonism six. Brain magnetic resonance imaging (MRI) showed 'eye-of-the-tiger' sign all patients. Three different were identified, a...
Tobacco smoking is a leading cause of mortality in developed and developing countries. Despite antitobacco smoke-free policies, the prevalence active smokers Mexican urban populations has remained stable. differ from Caucasian other ethnic groups, probably due to sociocultural genetic background characteristics. This study explored effect known variants on behavior Mexico City residents. Three hundred sixty-four Mestizo residents 87 families with at least one smoker were assessed for...
Lynch syndrome (LS) is the most frequent cancer predisposition affecting colon and rectum. A pathogenic variant (PV) disrupting one of mismatch repair (MMR) genes responsible for disease. The spectrum tumors in LS heterogeneous includes rectum (CRC), endometrium, ovaries, stomach, small bowel, urinary tract, bladder, pancreas, skin. Knowledge phenotypic variation patients with LS, type frequency PVs, cascade testing studies Latin American population limited. present study aims to recognize...
PurposeThe purpose of this manuscript is to show the process establishment and adaptation an oncogenetics program in Mexico.MethodsThe oncogentics at Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán was established as a traditional in-person service adapted include telemedicine counseling expand services other hospitals persists mixed model with research/commercial genetic testing.ResultsA total 2222 participants were included median age 47 years 77.6% women; 64% 36%...
OEIS is the acronym of a malformations complex association including omphalocele, exstrophy bladder or cloaca, imperforate anus, and spinal defects. It has very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology unknown. Virtually all cases are sporadic, specific associated risk factors uncertain.This study aimed determine clinical spectrum, possible early pregnancy exposures, demographic characteristics as potentially in sample Mexican cases.We conducted...
OBJETIVO: Determinar la frecuencia y tipo de malformaciones congénitas (MC) en hijos madres epilépticas (HME) tratadas no con anticonvulsivantes, posible correlación anticonvulsivante/MC asociación otras alteraciones del desarrollo. MATERIAL Y MÉTODOS: Estudio multicéntrico casos controles 166 recién nacidos vivos HME identificados 21 501 MC respectivos Registro Vigilancia Epidemiológica Malformaciones Congénitas (RYVEMCE). RESULTADOS: La fue mayor, (48.3%) que (28.3%); (RM= 2.37 IC95%...
Abstract We report on a patient with partial monosomy 6p and trisomy 12q identified by fluorescent in situ hybridization (FISH) array‐based comparative genomic (aCGH). She had complex phenotype characterized mental retardation (MR), psychomotor developmental delay, speech disorder, hypertelorism, eye anomalies, hearing loss, low‐set malformed ears, thin upper lip, heart defect, clinodactyly, pes valgus, skeletal anomalies. There is phenotypic overlap between our case Mutchinick syndrome....
Abstract Isolated postaxial polydactyly (I‐PAP), as a single defect, is frequent malformation, characterized by an extra digit placed on the ulnar or fibular side of limbs. Worldwide prevalence varies from high 225/10,000 in Nigerians to so low 6.08/10,000 Argentinians. Genetic–ethnic background significantly affects worldwide and type I‐PAP. Herein we describe epidemiological characteristics I‐PAP 697 newborns, 383 males 314 females identified 1,178,993 examined live births multicenter...
In the fourth part of our series, Adrian J Gonzalez and colleagues describe how congenitial malformations occur
Living in high-altitude regions has been associated with a higher prevalence of some birth defects. Moderate altitudes (1500-2500 m) have congenital heart diseases and low weight. However, no studies conducted for other isolated malformations.
The Case A 47-year-old woman with a history of drug-resistant epilepsy during childhood presented to the emergency department sudden dyspnea and chest pain. Upon admission, her oxygen saturation was 88%. CT scan revealed pulmonary cystic lesions consistent lymphangioleiomyomatosis right spontaneous pneumothorax, which resolved placement tube. Physical examination hypopigmented macule on skin lumbar region, facial angiofibromas, periungual fibromas. An abdominal MRI documented multiple...
Androgenetic alopecia (AGA) or common baldness is the most prevalent form of hair loss in males. Familial predisposition has been recognized, and heritability estimated monozygotic twins suggests an important genetic predisposition. Several studies indicate that numbers CAG/GGC repeats exon 1 androgen receptor gene (AR) maybe associated with AGA susceptibility.To investigate a possible correlation between AR haplotypes presence not sibships two more brothers among them at least one...
10597 Background: Cancer genetic testing indications are rapidly expanding to determine treatment eligibility for patients with cancer, identify individual cancer risk as well select family members at higher when a pathogenic variant (PV) has been identified in the family. Currently, international guidelines recommend that all candidates should have counseling make an informed decision testing. However, increased demand testing, innovative ways deliver pretest information needed, especially...