Results 81 to 90 of about 21,834 (238)

The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature [PDF]

, 2019
open access ...
Cheetham, Tim, Fearon, Kristine, Hanna, Esmee, Herbrand, Cathy, Hudson, Nicky, McEleny, Kevin, Quinton, Richard, Stevenson, Eleanor, Wilkes, Scott   +8 more
core   +2 more sources

Associations Between Comorbidities, Developmental Status, and Disease Severity in Children With Autism Spectrum Disorder: A Multicenter Cross‐Sectional Study in China

Autism Research, EarlyView.
ABSTRACT Children with autism spectrum disorder (ASD) frequently present with co‐occurring conditions that can influence autism symptom severity and complicate clinical management. However, studies with clinician‐confirmed diagnoses in non‐Western populations remain limited.
Dizhou Pang, Guiqin Duan, Qing Shang, Huichun Zhang, Binbin Wang, Huaili Ding, Huihui Kang, Yue Zhao, Yuxia Lu, Gai Tian, Li Zhang, Wu Jiang, Ganyu Wang, Cailing Liang, Lingling Zhang, Bingbing Li, Zhenghua Li, Chunlan Song, Yanyan Yang, Yazhe Wang, Kaichen Yue, Yongbin Lang, Jiatian Liu, Xiaoli Zhang, Yiran Xu, Changlian Zhu   +25 more
wiley   +1 more source

The Transitioning of Jewish Biomedical Law: Rhetorical and Practical Shifts in Halakhic Discourse on Sex-Change Surgery [PDF]

, 2016
This article examines discourse dynamics in Jewish law on sex-change surgery (SCS) and, in general, transitioning between genders. Orthodox medical ethics has moved beyond the abstract condemnation of SCS to the design of practical rules for transsexuals
Hillel Gray
core   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Nutraceutical-based integrative medicine: adopting a mediterranean diet pyramid for attaining healthy ageing in veterans with disabilities [PDF]

, 2018
Veterans with disability represent a big burden worldwide and often require long-term rehabilitation. Unhealthy dietary and lifestyle habits, including smoke and alcohol abuse, are common in veterans.
Aiello, Paola, Buccolieri, Cosimo, Catasta, Giovina, Ciccotti, Mario, Lista, Florigio, Palmery, Maura, Peluso, Ilaria, Raguzzini, Anna, Reggi, Raffaella, Sciarra, Tommaso   +9 more
core   +1 more source

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration

Human Molecular Genetics, 2019
AbstractDisorders of sex development (DSDs) are defined as congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. In many DSD cases, genetic causes remain to be elucidated. Here, we performed a case–control exome sequencing study comparing gene-based burdens of rare damaging variants between 26 DSD cases and 2625 controls ...
Kohei, Hamanaka, Atsushi, Takata, Yuri, Uchiyama, Satoko, Miyatake, Noriko, Miyake, Satomi, Mitsuhashi, Kazuhiro, Iwama, Atsushi, Fujita, Eri, Imagawa, Ahmed N, Alkanaq, Eriko, Koshimizu, Yoshiki, Azuma, Mitsuko, Nakashima, Takeshi, Mizuguchi, Hirotomo, Saitsu, Yuka, Wada, Sawako, Minami, Yuko, Katoh-Fukui, Yohei, Masunaga, Maki, Fukami, Tomonobu, Hasegawa, Tsutomu, Ogata, Naomichi, Matsumoto   +22 more
openaire   +2 more sources

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Familial 46, XY Disorder of Sexual Development identified in a Ph+BCR::ABL1P210+ Acute Lymphoblastic Leukemia septuagenarian female with RCBTB2::LPAR6 fusion gene: a case report

Frontiers in Oncology
BackgroundFamilial 46, XY Disorder of Sexual Development (DSD) was discovered in a Ph+, BCR::ABL1P210+ Acute Lymphoblastic Leukemia (ALL) female with RCBTB2::LPAR6 fusion gene. Siblings developing 46, XY DSD are extremely rare.
Lingling Wang, Conglin Xi, Xinyu Zheng, Yongfen Huang, Hao Xu, Yuqing Miao, Yuexin Cheng   +6 more
doaj   +1 more source

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review

Molecular Genetics & Genomic Medicine, 2020
Background Disorders of sex development (DSD) can result from congenital defect in sex determining pathway. Mitogen‐activated protein kinase kinase kinase 1 (MAP3K1) is one of the commonest genes that has been identified to cause 46, XY DSD.
Aisha Al Shamsi, Noura Al Hassani, Moustafa Hamchou, Raya Almazrouei, Aziz Mhanni   +4 more
doaj   +1 more source

A case report: 46 XY-disorder of sexual development [PDF]

, 2019
Authors report a case of a 6-year-old child with syndromic 46, XY disorder of sexual development. From the birth patient was assigned female. Physical examination showed dysmorphic features and ambiguous external genitalia.
Kansara, Tejal, Shah, Tushar, Umbharatwala, Yesha   +2 more
core   +2 more sources