Results 91 to 100 of about 2,167,838 (317)

Hetrombopag Added to Cyclosporine as the First‐Line Treatment for Patients With Non‐Severe Aplastic Anemia: A Phase 2 Multicenter Trial

American Journal of Hematology, EarlyView.
ABSTRACT Non‐severe aplastic anemia (NSAA) is a heterogeneous bone marrow failure syndrome with limited standardized treatment options. Cyclosporine A (CsA) monotherapy often yields suboptimal responses, highlighting an unmet clinical need for more effective therapies.
Lele Zhang, Ruonan Li, Qian Liang, Weiwang Li, Hong Pan, Zhen Gao, Liwei Fang, Jingyu Zhao, Xiao Yu, Zhexiang Kuang, Neng Nie, Jianping Li, Jinbo Huang, Xin Zhao, Meili Ge, Yizhou Zheng, Jun Li, Hong Zhang, Jun Shi   +18 more
wiley   +1 more source

Maternal exposure to SSRIs or SNRIs and the risk of congenital abnormalities in offspring: A systematic review and meta-analysis. [PDF]

PLoS One, 2023
Huang W, Page RL, Morris T, Ayres S, Ferdinand AO, Sinha S.   +5 more
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Dislocated Extensor Mechanism in a Child With Bilateral Absent Patella Without Other Congenital Abnormalities. [PDF]

J Am Acad Orthop Surg Glob Res Rev, 2023
Yu A, Yu A, Russo M, Kothakapa D, Huang P, Mantica A.   +5 more
europepmc   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia. [PDF]

Hum Genet, 2023
Zagnoli-Vieira G, Brazina J, Van Den Bogaert K, Huybrechts W, Molenaers G, Caldecott KW, Van Esch H.   +6 more
europepmc   +1 more source

A new congenital abnormal fibrinogen Ise characterized by the replacement of B beta glycine-15 by cysteine [PDF]

, 1991
N Yoshida, H Wada, Kaoru Morita, Hajime Hirata, Michio Matsuda, K Yamazumi, Shinji Asakura, S Shirakawa   +7 more
openalex   +1 more source

Improving the quality of life of parents of patients with congenital abnormalities using psychoeducational interventions: a systematic review. [PDF]

Qual Life Res, 2023
Rodrigues MG, Rodrigues JD, Soares MM, Azevedo LF, Rodrigues PP, Areias JC, Areias ME.   +6 more
europepmc   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source