A5010157903- Prenatal Screening and Diagnostics
- Congenital Anomalies and Fetal Surgery
- Urological Disorders and Treatments
- Craniofacial Disorders and Treatments
- Tracheal and airway disorders
- Cleft Lip and Palate Research
- Acute Lymphoblastic Leukemia research
- Carcinogens and Genotoxicity Assessment
- Acute Myeloid Leukemia Research
- Hedgehog Signaling Pathway Studies
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- DNA Repair Mechanisms
- Genetic Syndromes and Imprinting
- Connective tissue disorders research
- Curcumin's Biomedical Applications
- Congenital Heart Disease Studies
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- Genomics and Rare Diseases
- Congenital Diaphragmatic Hernia Studies
- Folate and B Vitamins Research
- Congenital limb and hand anomalies
Hospital Civil de Guadalajara
2016-2025
Universidad de Guadalajara
2016-2025
Red de Investigación Cardiovascular
2023
Universidad Enrique Díaz de León
2018
Deleted Institution
2017
Centro de Epilepsia y Neurocirugía Funcional
2016
Instituto Jalisciense de Cancerología
2016
Adult Congenital Heart Association
2015
Osaka City University
2015
Shimane University
2015
Fanconi anemia (FA) is the most common hereditary bone marrow failure syndrome, with an incidence of 1 in 5,000,000. This disease caused by alteration one 23 genes associated FA/BRCA DNA repair pathway, which responsible for repairing interstrand bridges generated during homologous recombination. FA has been a predisposition to other types neoplasm. The current study aimed present pathogenic variant <em>FANCA</em> observed three Mexican siblings, as detected next‑generation sequencing (NGS)....
ABSTRACT There have been three previously reported cases of hypomandibular faciocranial syndrome (HFS), which is characterized by dysgnathia (an absent or hypoplastic mandible), a protruding lower face, microstomia, normally positioned ears, and craniosynostosis. The oro‐pharyngo‐laryngeal abnormalities in HFS are virtually identical to those found the agnathia‐otocephaly complex (AOC), severe forms can include holoprosencephaly (HPE), synotia‐melotia, situs abnormalities, but not We report...
Kawasaki disease (KD) is an acute self-limited systemic vasculitis of unknown etiology. Intravenous immunoglobulin (IVIG) effective treatment and decreases the risk cardiac complications to less than 5%. In spite its effectiveness, some children do not respond this therapy still develop coronary aneurysms (CAA). The optimal for IVIG non-responsive patients remains controversial although corticoids have been suggested be in patients. For those resistant corticoids, interleukin-1 receptor...
Acute lymphoblastic leukemia (ALL) accounts for 30% of all pediatric cancers. Currently available treatments exhibit toxicity and certain patients may develop resistance. Thus, less toxic chemoresistance-reversal agents are required. In the present study, potential effect curcumin, a component Curcuma longa, as pharmacological co-adjuvant several chemotherapeutic against ALL, including prednisone, 6-mercaptopurine, dexamethasone, cyclophosphamide, l-asparaginase, vincristine, daunorubicin,...
We determined the overall prevalence of typical orofacial clefts and potential risks for nonsyndromic cleft lip with or without palate in a university hospital from West México. For prevalence, 227 liveborn infants were included total 81,193 births occurred during period 2009-2016 at "Dr. Juan I. Menchaca" Civil Hospital Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate risks, case-control study was conducted among 420 newborns, including only those 105 patients (cases), 315 birth...
Abstract Prenatal exposure to methotrexate (MTX) in the first trimester may lead fetal death, and surviving children have increased risks for cranial dysostosis, dysmorphic facies, skeletal malformations, limb defects, growth retardation, and, some cases, developmental delay, a pattern of defects recognized as MTX syndrome (FMS). We report on male infant who, addition severe FMS, showed previously undescribed central nervous system (CNS) genitourinary anomalies that contributed further...
Mexico is recognized as a country with high prevalence of gastroschisis, although the cause this remains unclear. We define and potential risk factors for gastroschisis in public hospital from west México. A case-control study was conducted among 270 newborns, including 90 patients nonsyndromic (cases) 180 infants without birth defects (controls), born all during period 2009 to 2013 at Hospital Civil de Guadalajara "Dr. Juan I. Menchaca" (Guadalajara, Mexico), total 51,145 live births....
Although Hispanics of Mexican origin in the United States have been identified as a population with particularly higher rate Down syndrome (DS), there is paucity studies concerning this topic Mexico. The aim study was to determine prevalence and risk factors for DS from Western For prevalence, 230 liveborn infants were included total 89,332 births occurring during period 2009–2017 at Dr. Juan I. Menchaca Civil Hospital Guadalajara (Mexico). In order evaluate potential risks, case‐control...
〈 We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non-asphyxiating), trident acetabular roofs, postaxial polydactyly cone-shaped epiphyses, and dysplasia the renal, hepatic pancreatic tissues. To investigate molecular cause, we used exome sequencing strategy followed by Sanger sequencing. Two rare variants, both predicted to result in loss functional protein, were identified IFT140 gene; a substitution at...
Abstract Seckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre‐ and post‐natal growth retardation, microcephaly, typical facial appearance with beak‐like protrusion, severe mental retardation. A heterogeneous basis for SS was proposed since around 25% of patients have hematological anomalies, suggesting a subgroup chromosome instability disorders. Chromosome induced mitomycin C (MMC) has been observed in previous reports. The purpose this study to report...
Introduction: GATA2 mutations are associated with several conditions, including Emberger syndrome which is the association of primary lymphedema hematological anomalies and an increased risk for myelodysplasia leukemia.Objective: To describe a family incomplete penetrance.Methods: A DNA sequencing gene was performed in parents offspring (five individuals total).Results: The consisted 5 null mutation (c.130G>T, p.Glu44*); three them were affected (two deceased) while two remained unaffected...
The usefulness of the complete blood count (CBC) during first week life in infants with Down syndrome (DS) has been recognized; however, studies are limited and have evaluated only some parameters CBC. Here, we report a prospective study 135 cytogenetically confirmed DS reference group 226 without birth defects all born period 2009–2015 at Dr. Juan I. Menchaca Civil Hospital Guadalajara (Guadalajara, Mexico). goal was to evaluate hematological findings CBC 7 days life, interpreted according...
A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES de novo balanced t(2;4)(q14.2;q35) confirmed by fluorescent situ hybridization. He had severe growth mental retardation, lobar microphthalmos, iris, choroid, retina colobomata. Less-severe facial involvement correlates the semilobar type of holoprosencephaly; limb defects consisted foot syndactyly. All...