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https://revistas.unilibre.edu.co/index.php/biociencias/article/view/13669

Biociencias
La agenesia escrotal es una malformación poco frecuente que se asocia con criptorquidia. Hace parte de la variabilidad de expresión de los genitales ambiguos que no permiten establecer el género biológico. Este artículo explica el desarrollo embriológico
Enio Hernández Aguirre, Francisca Arrieta Decastro, Vanessa Hernández Arrieta, Jenifer Torres-Lacera   +3 more
doaj   +1 more source

Dolor abdominal crónico asociado con agenesia total de mesenterio

Repertorio de Medicina y Cirugía, 2018
La agenesia del mesenterio es una anomalía rara y por esta razón no se piensa cuando se tiene una historia de dolor crónico abdominal. Se han reportado casos de agenesia de mesenterio, partes de intestino y arteria mesentérica superior, junto con atresia
Juan Carlos Bonilla, Fernando Polo, Johanna Vargas, Omar Gómez   +3 more
doaj   +1 more source

Agenesia pulmonar

Universitas Médica, 2009
La agenesia pulmonar es una alteración poco frecuente, con predominio en el sexo femenino y sin preferencia por la lateralidad. Reportamos el caso de un recién nacido masculino con diagnóstico prenatal de hernia diafragmática. Al nacer, se descartó esta patología y se hizo una impresión diagnóstica de malformación adenomatoide quística (malformación ...
MERCEDES OLAYA, GISEL GORDILLO, CARLOS A. GARCÍA, DAVID TORRES   +3 more
openaire   +3 more sources

AGENESIA DEL LÓBULO HEPÁTICO DERECHO ASOCIADO A AGENESIA VESICULAR [PDF]

Revista chilena de cirugía, 2015
Introduccion: Las anomalias anatomicas del higado son raras, la asociacion a una agenesia vesicular es mas infrecuente aun, siendo su diagnostico generalmente un hallazgo. Caso clinico: Presentamos el caso de un paciente masculino de 63 anos que consulta por ictericia, sin dolor ni fiebre, al cual se le realiza diagnostico por imagen con resonancia ...
Montalvo V, Domingo, Castro G, Guillermo, Alarcón E, Renato   +2 more
openaire   +2 more sources

Uterine Glands Agenesia in the Mare [PDF]

Journal of Equine Veterinary Science, 2017
All mammalian uteri contain endometrial glands that synthesize and secrete a substance termed histotroph, which is essential for early pregnancy nutrition. Because of that function, endometrial glands play a crucial role as regulators of survival and development of conceptus.
Maciej Witkowski, Maria Katkiewicz, Joanna Kochan, PANZANI, DUCCIO   +3 more
openaire   +3 more sources

The E3 Ubiquitin Ligase RLIM Safeguards Oligodendrocyte Development and Myelination by Targeting SLC7A11 for Polyubiquitination to Regulate Ferroptotic Resistance

Advanced Science, EarlyView.
RLIM‐mediated SLC7A11 polyubiquitination is required for SPTBN2‐mediated trafficking and membrane localization of SLC7A11, which enables oligodendrocyte precursor cells to be resistant to ferroptosis and safeguards oligodendrocyte lineage progression and thus myelination.
Yuwei Li, Haijun Zhang, Jieya Zhou, Shiyu Yang, Jingmei Cha, Gaofeng Yan, Shuhua Zhao, Bingyu Mao, Pengcheng Ma   +8 more
wiley   +1 more source

Holoprosencephaly with agenesia of the prosencephalic ventricle [PDF]

Folia Neuropathologica, 2015
Malformations of the forebrain are characterized by abnormalities in size, shape, and arrangement of the cerebral hemispheres and ventricles. We present the morphological picture of a brain with failure of the forebrain complementary to holoprosencephaly coexisting with absence of the anterodorsal part of the prosencephalic ventricles.
Laure-Kamionowska, M, Krystyna Zofia Szymańska, Klepacka, T   +2 more
openaire   +2 more sources

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Total agenesis of the corpus callosum in a patient with childhood-onset schizophrenia Agenesia completa de corpo caloso em um paciente com esquizofrenia de início na infância

Arquivos de Neuro-Psiquiatria, 2007
The hypothesis that schizophrenia involves aberrant inter-hemispheric communication has a long pedigree, however its precise role remains unclear. We therefore report the case of a total agenesis of the corpus callosum in a 21-year-old man with childhood-
Jaime Eduardo Cecilio Hallak, José Alexandre de Sousa Crippa, Joel Porfírio Pinto, João Paulo Machado de Sousa, Clarissa Trzesniak, Serdar Murat Dursun, Phillip McGuire, John Francis William Deakin, Antonio Waldo Zuardi   +8 more
doaj   +1 more source