Results 41 to 50 of about 19,055 (233)

Geographical Pattern of Testicular Cancer Points to Maternal Exposures Behind Increasing Incidence

International Journal of Cancer, EarlyView.
ABSTRACT Evidence suggests that testicular cancer (TC) originates from germ cell neoplasia in situ arising during fetal development, implying that prenatal environmental exposures may influence disease risk. We investigated whether maternal place of residence during pregnancy is associated with regional variation in TC incidence.
Antti Kaipia, Karri Seppä, Elli Hirvonen, Eetu Mäkinen, Nea Malila, Janne Pitkäniemi, Jorma Toppari, Peter Boström, Heikki Seikkula   +8 more
wiley   +1 more source

Male refractory hypospadias with sexual reversal: a case report

Journal of Medical Case Reports, 2023
Background Hypospadias is one of the most prevalent urogenital malformations in clinic. However, some hypospadias may have a more complex disorder of sex development. Usually, hypospadias in these patients is severe.
Jianfeng Zhao, Gang Chen, Jun Chen, Le Qian   +3 more
doaj   +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

PHENOTYPE-GENOTYPE AND PEDIGREE ANALYSIS OF ISOLATED HYPOSPADIAS PATIENTS

Jurnal Urologi Indonesia, 2018
Objective: Hypospadias is a malformation in urethra which has many range of severity. A patient with Isolated hypospadias (IH), a mild disorder of sex development (DSD) has a hypospadias phenotype only. Hypospadias is considered as multifactorial disease
Nura Eky Vikawati, Ardy Santosa, Achmad Zulfa Juniarto, Sultana MH Faradz   +3 more
doaj   +1 more source

Hypospadias and cocaine use in pregnancy.

, 2021
A case study involving male dichorionic-diamniotic twins where hypospadias was noted in the delivery suite. First pass urine samples for toxicology was requested and both twins tested positive for cocaine metabolites in their urine.
Boyle, MA, Finnegan, J, O'Sullivan, D
core  

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

Nongenetic Risk Factors of Severe Hypospadias: A Case–Control Study

Journal of Indian Association of Pediatric Surgeons
Background: Various risk factors were contributed to hypospadias and may be varied by region and hypospadias severity. The study aims to analyze the nongenetic risk factors associated with severe hypospadias in a provincial referral hospital in West Java,
Vita Indriasari, Rizki Diposarosa, Yoni Fuadah Syukriani, Dedi Rachmadi   +3 more
doaj   +1 more source

Factors associated with reoperation in hypospadias surgery — A nationwide, population-based study

Asian Journal of Surgery, 2017
Background/Objective: To analyze the preoperative factors associated with the need for secondary surgery following primary urethroplasty. Methods: This study utilized a subset of the National Health Insurance Research Database, which includes the data on
Yu-Chuan Lu, Wei-Yi Huang, Yu-Fen Chen, Hong-Chiang Chang, Yuan-Hung Pong, Tsung-Hsien Shih, Kuo-How Huang   +6 more
doaj   +1 more source

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Mazen, I., Achermann, J.C., Rossi, R., Akkurt, I., Köhler, B., Cetindag, C., Biebermann, H., Grüters, A., Lin, L., Hiort, O.   +9 more
core  

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source