Results 31 to 40 of about 2,351 (123)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Determining the Minimal Clinically Important Difference of the 40‐Item Smell Identification Test in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) are highly prevalent among people with cystic fibrosis (PwCF) and negatively impact quality of life. The 40‐item Smell Identification Test (SIT) is widely used to assess psychophysical olfaction, but a CF‐specific minimal clinically important difference (MCID) has not been ...
Eugene Oh, Jessa E. Miller, Michelle J. Lee, Anna Zemke, David Baraghoshi, Matthew J. Strand, Jeremiah A. Alt, Todd E. Bodner, Michael Chang, Naweed I. Chowdhury, Patricia H. Eshaghian, Anne E. Getz, Jennifer L. Goralski, David A. Gudis, Peter H. Hwang, Ashoke Khanwalkar, Adam J. Kimple, Jivianne T. Lee, Douglas A. Li, Jess C. Mace, Jayakar V. Nayak, Jonathan B. Overdevest, Zara Patel, Daniella K. Safatian, Rodney J. Schlosser, Brent Senior, Amanda L. Stapleton, Timothy L. Smith, Zachary M. Soler, Jeffrey D. Suh, Grant A. Turner, Marilene B. Wang, Milene T. Saavedra, Jennifer L. Taylor‐Cousar, Daniel M. Beswick   +34 more
wiley   +1 more source

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Frontiers in Genetics, 2022
In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic approaches, such as whole exome sequencing (WES ...
Housna Zidoune, Housna Zidoune, Housna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, Djalila Chellat-Rezgoune, Asma Boukri, Scheher Aman Dib, Nassim Nouri, Meryem Tebibel, Karima Sifi, Noureddine Abadi, Dalila Satta, Dalila Satta, Yasmina Benelmadani, Joelle Bignon-Topalovic, Maeva El-Zaiat-Munsch, Anu Bashamboo, Ken McElreavey   +18 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations

Urology Case Reports, 2022
Leydig cell hypoplasia is a rare autosomal recessive condition caused by mutations in luteinizing hormone/chorionic gonadotropin receptor (LHCGR) genes in which 46, XY patients demonstrate a wide spectrum of disorders/differences of sex development (DSD)
Kiarad Fendereski, John Carey, Kathleen Timme, Katherine Hayes, Jessica Robnett, Anthony Schaeffer   +5 more
doaj   +1 more source

Reproducibility of Serum Androgen Concentrations by Liquid Chromatography Mass Spectrometry in Healthy Male and Female Athletes

Drug Testing and Analysis, EarlyView.
Box and whiskers plots show the distributions of serum testosterone (T), dihydrotestosterone (DHT), androstenedione (A4), and the ratios of T/FDHT and T/A4. ABSTRACT Detection of androgen doping relies on mass spectrometry‐based methods to detect natural endogenous and exogenous androgens in urine and serum. To distinguish exogenous administration from
D. J. Handelsman, S. Bermon
wiley   +1 more source

SRY-negative in 46, XX Male Testicular DSD: a case report

Journal of Biomedicine and Translational Research, 2020
Background: The sex determination process requires distinct signaling pathways to generate either testis or ovaries from the same precursor structures, the primordial gonad.
Nurin Aisyiyah Listyasari, Ardy Santosa, Achmad Zulfa Juniarto   +2 more
doaj   +1 more source

Comorbid Depression in Hospitalised Youth With Anorexia Nervosa: Characteristics, Correlates, and Impact on Weight Gain and Treatment Duration

European Eating Disorders Review, EarlyView.
ABSTRACT Objective Anorexia nervosa (AN) is associated with high rates of comorbidities. The impact of comorbid depression‐spectrum disorders (DSDs) in AN patients on the outcomes of inpatient treatment is insufficiently studied. Method Retrospective study of youth with AN (9–18 years), admission weight < 10th body mass index (BMI) percentile ...
Antonia Wiese, Sabine Arnold, Sarah Zaid, Antonia E. Müller, Christoph U. Correll, Charlotte Jaite   +5 more
wiley   +1 more source

Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development

Molecular Genetics & Genomic Medicine, 2022
Background Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia.
Felipe Martins Elias, Mirian Yumi Nishi, Maria Helena Palma Sircili, Rafael Loch Bastista, Nathalia Lisboa Gomes, Maria Tereza Martins Ferrari, Elaine Maria Frade Costa, Francisco Tibor Denes, Berenice Bilharinho Mendonca, Sorahia Domenice   +9 more
doaj   +1 more source