Results 71 to 80 of about 166,709 (261)

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

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Bacterial constipation: Mucin-degrading intestinal commensal bacteria cause constipation

Gut Microbes
The contribution of gut microbes to constipation remains mechanistically underexplored, despite constipation being one of the most prevalent gastrointestinal disorders.
Tomonari Hamaguchi, Noriaki Gibo, Misuzu Ohara, Mikako Ito, Tomoyuki Ogura, Jun-Ichi Takeda, Hiroshi Nishiwaki, Fei Zhao, Ryo Kinoshita-Daitoku, Masashi Hattori, Koji Nonogaki, Tetsuya Maeda, Kenichi Kashihara, Yoshio Tsuboi, Masaaki Hirayama, Mitsuhiro Fujishiro, Hiroki Kawashima, Kinji Ohno   +17 more
doaj   +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

Shotgun Metagenomic Profiling of the Gut Virome in Prodromal and Confirmed Parkinson's Disease

Annals of Neurology, EarlyView.
We conducted a nested case‐control study within the Nurses’ Health Study and the Health Professionals Follow‐up Study to examine the role of the gut virome (GV) in Parkinson's disease (PD). We applied a novel metagenomic virome profiling approach, Bioinformatic Application for Quantification and Labeling of Viral taxonomy (BAQLaVa), to prospectively ...
Deepika Dinesh, Xochitl C. Morgan, Jordan Jensen, Kjetil Bjornevik, Michael A. Schwarzschild, Alberto Ascherio, Curtis Huttenhower, Natalia Palacios   +7 more
wiley   +1 more source

Synergistic Advanced Oxidation and Physicochemical Treatment Strategies for Antibiotic Removal and Resistance Mitigation in Water

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT The presence of antibiotics in water not only causes environmental pollution but also increases the growth of antibiotic‐resistant bacterial genes, which pose serious threats to human beings and other water residents. Large numbers of people are reportedly affected by the resistant bacterial genes, as many broad‐spectrum antibiotics are not ...
Amir Zada, Shohreh Azizi
wiley   +1 more source

Investigating the Quality of Sleep in Patients with Functional Constipation Referred to Shahid Mostafa Khomini Hospital in Ilam [PDF]

Iranian South Medical Journal
Background: Constipation is a very common disorder in adults. The aim of this study is to determine the relationship between sleep hours during the week and weekends with constipation in individuals.
Gholamreza Nouri, Niloufar Hosseini, Hossein Seyedkhani, Noorallah Yadegari   +3 more
doaj  

HUBUNGAN AKTIVITAS FISIK DENGAN KEJADIAN KONSTIPASI PADA LANSIA DI KOTA MADIUN

Media Gizi Indonesia, 2017
Elderly is the fi nal stage in human life which usually begins at age 60 years. Elderly phase characterized by decreased function of the body and more susceptible to diseases.
Amelia Dyah Kartika Sari, Bambang Wirjatmadi   +1 more
doaj   +1 more source

Ixekizumab With Tirzepatide Achieved Greater Disease Control Than Ixekizumab Alone in Adults With Psoriatic Arthritis and Overweight or Obesity: Results From a Randomized Clinical Trial

Arthritis &Rheumatology, EarlyView.
Objective Overweight or obesity is prevalent in 72% to 82% of individuals with psoriatic arthritis (PsA). We assessed the efficacy and safety of ixekizumab (IXE) concomitantly administered with tirzepatide (TZP) compared with IXE alone in adult participants with active PsA and overweight with at least one weight‐related comorbidity or obesity.
Joseph F. Merola, Philip Mease, Alan Kivitz, Naveed Sattar, Laura C. Coates, Daniel Aletaha, Cynthia E. Kartman, Peter Fischer, Luna Sun, Píndaro Martínez‐Osuna, Andris Kronbergs, Purvi Prajapati, Anabela Cardoso, Mark C. Genovese, Alexis Ogdie   +14 more
wiley   +1 more source

The Relationship Between The Use of Apitherapy Products and The Frequency of Constipation in Adults

International Journal of Traditional and Complementary Medicine Research
Objective: This study aims to reveal the effectiveness of apitherapy products on constipation, as well as other possible risk factors, in individuals with functional constipation.Material-Method: This cross-sectional study was conducted with 652 adults ...
Semra Türkoğlu, Ezgi Böler, Zehra Betül Tomar, Esra Güven, Ayfer Beyaz Coşkun   +4 more
doaj   +1 more source