Results 171 to 180 of about 11,421 (297)

Winning the arms race: Optimizing upper extremity amputations and advancements in prosthetic technology. [PDF]

Bull Hosp Jt Dis (2013)
Neal W, Donnelly MR, Ayalon OB.
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Spinal Cord Stimulation Therapy for Phantom Limb Pain in the Left Lower Extremity 30 Years After Onset. [PDF]

Cureus
Sasaki M, Date H, Ito H.
europepmc   +1 more source

Utilizing Deep Neural Networks for Brain–Computer Interface-Based Prosthesis Control

, 2019
Limb amputations affect a significant portion of the world’s population every year. The necessity for these operations can be associated with related health conditions or a traumatic event.
Noel, Thomas C., Snider, Brian R.
core  

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

War, amputation, and resilience: assessing health-related quality of life in Syrian prosthetic users. [PDF]

Int J Equity Health
Khadour FA, Khadour YA, Alharbi NSK.
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Treatment of residual and phantom limb pain using percutaneous ablation: a systematic review and meta-analysis. [PDF]

Front Rehabil Sci
Murray KR, Pauli G, Catapano M.
europepmc   +1 more source

Age and gender effects on echocardiographic and histopathological cardiac phenotypes in healthy adult mice

Animal Models and Experimental Medicine, EarlyView.
This study investigated the impact of age and sex on cardiac phenotypes in healthy adult C57BL/6J mice using echocardiography and histopathological analyses. Findings revealed that female mice demonstrated more pronounced global cardiac chamber dilation during aging.
Shuang Wen, Xijia Shao, Xiulin Zhang, Ningning Zhang, Xiao Chen, Guangxin Yue, Jiangping Song   +6 more
wiley   +1 more source