Results 41 to 50 of about 167,426,214 (275)

Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development

Balkan Medical Journal, 2018
Background: Ovotesticular disorder is characterized by the presence of testicular and ovarian tissues in the same individual. Single gene mutations in SRY, SOX9, DMRT1 and DAX1 can lead to ovotesticular disorder of sexual development.
Metin Eser, Akif Ayaz
doaj   +1 more source

Development Effectiveness Overview (DEO) 2023

, 2023
The Development Effectiveness Overview (DEO) is an annual report produced by the IDB Group to share the results and impact of its work in Latin America and the Caribbean.
Inter-American Development Bank
core   +1 more source

Diagnosis and surgical decision-making of a 46, XX ovotesticular disorders of sex development patient: a case report

Frontiers in Surgery
BackgroundOvotesticular disorder of sex development is a rare form of disorder of sex development that manifests as ovotestis in individuals. The precise diagnosis and the choice of surgical procedures are still in conflict condition due to the rarity of
Hanxing Zhao, Zhixing Chen, Zhixing Chen, Baoyun Wang, Zhenyu Zhang, Zhenyu Zhang, Zhengyong Li, Zhengyong Li   +7 more
doaj   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients

Biomedicines, 2023
Disorders/differences of sex development (DSDs) are a group of rare and phenotypically variable diseases. The underlying genetic causes of most cases of 46XY DSDs remains unknown.
Meng-Che Tsai, Yun-Han Weng, Yu-Fang Lin, Yi-Chieh Wang, Hui-Wen Yu, Yen-Yin Chou, Peng-Chieh Chen   +6 more
doaj   +1 more source

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Case report: Persistent Müllerian duct syndrome and enlarged prostatic utricle in a male dog

Frontiers in Veterinary Science, 2023
A 1-year-old male intact Miniature Schnauzer mix was presented for chronic intermittent hematuria. Abdominal ultrasonography revealed a large, fluid-filled cystic structure extending cranially and dorsally to the prostate. Computed tomography scan images
Peter J. Welsh, Kaylyn McDaniel, Elizabeth W. Goldsmith, Elizabeth W. Goldsmith, Joshua D. Ramsay, Alan Conley, Tina Jo Owen, Yoko M. Ambrosini, Michela Ciccarelli   +8 more
doaj   +1 more source

Impact of Radiation Therapy on Physical and Psychosocial Health of Adolescents and Young Adults: A Joint Report From the Children's Oncology Group AYA and Radiation Oncology Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani, Rachel K. Peterson, Avani D. Rao, Laurie J. McKenzie, Ahmed Magdy Elmotayam, Leslie Chang, Michael Roth, Susan L. McGovern   +7 more
wiley   +1 more source

Social Functioning Within the First Years After Pediatric Brain Tumor Diagnosis and the Relationship With Family Psychosocial Risk

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survivors of pediatric brain tumors (PBTs) can experience long‐term social difficulties, impacting quality of life. Beyond medical and environmental factors, family psychosocial risk may play a role in social outcomes by shaping the caregiving environment and may provide intervention options.
Renske H. Houben, Marisa H. Huisman, Martha A. Grootenhuis, Femke K. Aarsen, Marita Partanen   +4 more
wiley   +1 more source

Effectiveness of Resistance Intradialytic Exercise Compared to Aerobic Intradialytic Exercise for Patients With Chronic Kidney Disease: A Randomized Controlled Clinical Trial

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Patients with chronic kidney disease undergoing hemodialysis commonly experience reduced physical function, fatigue, poor sleep quality, and impaired health‐related quality of life. Intradialytic exercise has been proposed as a non‐pharmacological strategy to improve these outcomes.
Klebson da Silva Almeida, Gisela Cristiane Miyamoto, Daniel da Costa Torres, Ian Setubal Reis Chaves, Jonas do Carmo Paschoalin, Braúlio Lima Nascimento, Luciana Dias Chiavegato   +6 more
wiley   +1 more source