Results 131 to 140 of about 132,899 (238)

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

TULP4, a novel E3 ligase gene, participates in neuronal migration as a candidate in schizophrenia

CNS Neuroscience &Therapeutics, EarlyView., 2023
Mutations identified from four SCZ pedigrees resulted in decreased TULP4 expression. Tulp4 knockdown caused delayed neuron migration in embryonic mice, and impaired cognition and prepulse inhibition in adult mice. These phenotypes may be related to TULP4 through its involvement in the formation of a novel E3 ubiquitin ligases.
Yan Bi, Decheng Ren, Fan Yuan, Zhou Zhang, Daizhan Zhou, Xin Yi, Lei Ji, Keyi Li, Fengping Yang, Xi Wu, Xingwang Li, Yifeng Xu, Yun Liu, Peng Wang, Changqun Cai, Chuanxin Liu, Qian Ma, Lin He, Yi Shi, Guang He   +19 more
wiley   +1 more source

Tumor de células epitelioides perivascular (PEComa) uterino, un raro tumor

Acta Médica del Centro, 2017
Se trata de una paciente de 47 años de edad, de raza blanca, con antecedentes de ser sordo-muda y de retraso mental así como de padecer diabetes mellitus tipo 2 e hipertensión arterial esencial, para lo que lleva tratamiento.
Kenia González Valcárcel, Eliecer Anoceto Armiñana, Osmani Alba Turiño, Irene Carmen Rodríguez Santos, Yandi Ariel Machado Hernández, Armando Eugenio Iglesias Yera, Juan Antonio Suárez González, Joel Alsina Vázquez, Alexander Miguel Martínez Pérez, Yarisleidy Cabrera Abreu   +9 more
doaj  

Gestación en útero didelfo: reporte de un caso

, 2019
El útero didelfo representa una malformación de los conductos de Müller donde el útero está presente como un órgano par. Esta patología suele ser confundida frecuentemente con el útero tabicado o útero septado, en el que el pronóstico para el embarazo es
Vidal Gonzales, Melissa, Villarroel Paredes, Ibeth Lady, Pardo Novak, Antonio José   +2 more
core  

PFOA Exposure Elicits Quantitative Lipidomic Changes in the Pancreas in a Mouse Model of Pancreatic Cancer

Environmental Toxicology, EarlyView.
ABSTRACT Pancreatic cancer is the fourth leading cause of cancer deaths in the US and predicted to rise to second by 2030. Several risk factors have been identified as potential contributors to pancreatic cancer development including lifestyle factors and long‐term exposure to occupational and environmental carcinogens.
Barbara A. Hocevar, Lisa M. Kamendulis
wiley   +1 more source

ÚTERO DIDELFO

Paciente Femenina de 31 años, G1P0C1A0, con diagnóstico de admisión de embarazo a término con Distocia de presentación pélvica. Cumpliendo con todo el protocolo preoperatorio, se programa para una cesárea. Durante la operación quirúrgica se encuentra una
Wu Tai, Stanley
core  

Embryotoxic Effects of Monosodium Methyl Arsenate (MSMA) on Gallus gallus: Morphological and Morphometric Evidence of Developmental Disruptions

Environmental Toxicology, EarlyView.
ABSTRACT Anthropogenic activities and the large volume of compounds released into the environment are sources of contamination for plants, animals, and humans. The herbicide monosodium methyl arsenate (MSMA) ranks among the best‐selling agricultural pesticides in Brazil.
Daniel Moreira Melo, Eduarda Scalfoni Tavares, Melyssa Kmecick, Juliana Castro Monteiro Pirovani   +3 more
wiley   +1 more source

Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review. [PDF]

Med Sci Monit
Masiarz A, Kosteczko P, Mazur M, Pelczar P, Kimber-Trojnar Ż, Leszczyńska-Gorzelak B.   +5 more
europepmc   +1 more source

Porcine circovirus 2 vaccination timing was not associated with piglets’ serological response

Veterinary Record, EarlyView.
Abstract Background The development of immunity in pigs starts in utero, but piglets are born immunologically immature and rely on maternal antibodies. Weaning exposes piglets to multiple stressors, yet vaccination is commonly performed around weaning.
Lea Uotinen, Sanna Nikunen, Gitte Blach Nielsen, Mari Heinonen   +3 more
wiley   +1 more source

In Utero Exposure to Preexisting or Gestational Diabetes Mellitus Increases Incidence of Diabetes in the Children of First Nations and Non-First Nations Mothers: A Retrospective Cohort Study. [PDF]

Diabetes Care
Shah BR, Odugbemi T, Li Z, Stewart C, Green ME, Jones CR, Walker JD, Wicklow B.   +7 more
europepmc   +1 more source