Results 151 to 160 of about 2,337,549 (294)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Short-Course Radiotherapy Combined With CapeOx and PD-1 Inhibitor Following Local Excision in High-Risk Early Rectal Cancer: Study Protocol for a Prospective Phase II Trial (TORCH-LE). [PDF]

Clin Med Insights Oncol
Wang J, Wang Y, Zhang Z, Wang Y, Wu R, Zhou S, Yang W, Chen Y, Zhou M, Zhang H, Xia F, Li X, Zhang Z, Wan J, Shen L.   +14 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Rectal Nonsteroidal Anti-Inflammatory Drugs, Aggressive Hydration With Lactated Ringer's Solution, Somatostatin or Combinations for Prophylaxis Post-ERCP Acute Pancreatitis: A Network Meta-Analysis. [PDF]

Pancreas
Shen Y, Bai Y.
europepmc   +1 more source

Human evolution and the obstetrical dilemma: The pelvic floor hypothesis

The Anatomical Record, EarlyView.
Abstract Human childbirth is mechanically difficult because a large‐headed, broad‐shouldered fetus must pass through a comparatively narrow, twisted bony birth canal. Traditional explanations of this “obstetrical dilemma” emphasize the role of bipedal locomotion in inhibiting the evolution of a wider, more spacious pelvis.
Barbara Fischer, Ekaterina Stansfield
wiley   +1 more source

Genomic analysis of <i>Neisseria gonorrhoeae</i> strains from disseminated, urogenital, and rectal infections reveals differences in genes for iron acquisition and type IV secretion. [PDF]

Microbiol Spectr
Nunnally NS, Stoudenmire JL, Harrison OB, Unitt A, Kersh EN, Cornelissen CN.   +5 more
europepmc   +1 more source

Heat Stress in Quail: Impacts on Health and Productivity, and Mitigation Strategies

Animal Research and One Health, EarlyView.
Heat stress disrupts physiological homeostasis in quail, inducing oxidative stress, immune dysregulation, and metabolic imbalance, which impair growth, reproduction, product quality, and welfare. Integrating nutritional, environmental, and genetic–epigenetic strategies enhances thermotolerance, sustains productivity, and supports climate‐smart quail ...
T. A. Eletu, I. A. Anjola, L. O. Fasasi, D. P. Fadipe, A. T. Afuye, F. O. Fasanya, O. E. Oke   +6 more
wiley   +1 more source

Differential diagnosis of solitary rectal ulcer syndrome and early rectal cancer via endorectal ultrasound: a retrospective matched case-control study. [PDF]

BMC Gastroenterol
Yi H, Liu X, Chen L, Chen J, Liu G.
europepmc   +1 more source

Gut Health in Ostriches (Struthio camelus): Insights Into Intestinal Structure, Functions, Microbiome, and Improvement Strategies

Animal Research and One Health, EarlyView.
Our paper systematically reviews the intestinal structure, function, and microbiota of ostriches, along with strategies for improving their gut health. We analyze how these factors collectively influence intestinal homeostasis and ostrich welfare, emphasizing probiotics as a promising intervention to enhance gut health, boost population well‐being, and
Zi‐Qun Zhang, Fang‐Fang Guo, Wen‐Juan Du, Meng Li, Aftab Shaukat, Zhu‐Qing Jia, Shu‐Cheng Huang   +6 more
wiley   +1 more source

The Rectal Mucosal Myeloid Niche in HIV-1 Persistence: Reservoir Support, Viral Sequestration, and Therapeutic Opportunities. [PDF]

Viruses
Zhang H, Huang P, Zhang X, Pan T.
europepmc   +1 more source