Results 191 to 200 of about 20,397 (261)

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss

Journal of Clinical Laboratory Analysis, EarlyView.
Whole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Solmaz Hassani Fard Katiraei, Milad Gholami, Mohsen Soosanabadi, Mona Entezam, Seyed Alireza Dastgheib   +4 more
wiley   +1 more source

Intraoperative diagnosis of Amyand's hernia: inguinal herniorrhaphy, appendicectomy and orchidectomy. [PDF]

BMJ Case Rep
Rickward H, Karnik VA, Dissanayake T.
europepmc   +1 more source

Low‐Level Human Epididymis Protein 4 in Seminal Plasma Is an Independent Risk Factor for Poor Semen Liquefaction: A Case Control Study

Journal of Clinical Laboratory Analysis, EarlyView.
Our work identifies a novel and significant association between low seminal levels of Human Epididymis Protein 4 (HE4) and the clinical condition of poor semen liquefaction, a common cause of male infertility. The findings are statistically robust, clinically relevant, and provide a foundational basis for future research into the mechanism by which HE4
Feifei Wang, Jiangnan Wu, Shijie Gao, Zhuohan Zheng, Zhiheng Wang, Jing Gao   +5 more
wiley   +1 more source

The use of systemic immune-inflammation index in the differential diagnosis of acute scrotum in children. [PDF]

Pak J Med Sci
Madenci H, Ugur C.
europepmc   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Differential diagnosis of testicular embryonal rhabdomyosarcoma and testicular seminoma with enhanced CT: a retrospective study. [PDF]

Front Oncol
Zhang Z, Liang P, Yue S, Zhang Y, Zhang H, Zhou Z, Gao J.   +6 more
europepmc   +1 more source

Total Immunoglobulin G Variation Through the Phenological Cycle of Migrant and Resident Lesser Long‐Nosed Bats (Leptonycteris yerbabuenae) in the Drylands of Mexico and Its Relationship With Bacterial Killing‐Ability of Plasma

Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, EarlyView.
ABSTRACT Bats have unique immunological characteristics among vertebrates. Understanding how the immune system responds during the life cycle of bat populations is crucial for grasping how their defenses against infection vary during critical life events.
David Alfonso Rivera‐Ruiz, José Juan Flores‐Martínez, Carlos Rosales, Luisa I. Falcón, Marco Tulio Solano de la Cruz, Rodrigo A. Medellín, L. Gerardo Herrera M.   +6 more
wiley   +1 more source

Ultrasonographic Evaluation of Acute Scrotal Emergencies: A Comprehensive Case Series. [PDF]

Cureus
Louviere CD, Onteddu LP, Ortiz R, Guevara Tirado OA, Vulasala SR, Wen JL, Hall N, Abu Hana R, Adler G, Gopireddy DR.   +9 more
europepmc   +1 more source

Clinical progress note: Mumps

Journal of Hospital Medicine, EarlyView.
Abstract Mumps was a common childhood viral illness before the implementation of the measles, mumps, and rubella (MMR) vaccination in 1967. There was a significant decrease in mumps cases in the postvaccine era; however, there has been an increase in outbreaks in the United States over the past two decades.
Sarah Ludvigsen, Mati Segev
wiley   +1 more source

Mapping the Landscape of Over‐Scanning in CT Imaging: A Scoping Review

Journal of Medical Radiation Sciences, EarlyView.
Over‐scanning in CT is highly prevalent and contributes to unnecessary radiation exposure, with notable impact on radiosensitive organs. Standardised protocols and AI‐assisted planning show strong potential to optimise scan range and reduce excess dose.
Mo'men Bani‐Ahmad, Aoife O Sullivan, Yasser H. Hadi, Laura McLaughlin, Andrew England, Mark McEntee   +5 more
wiley   +1 more source