Results 131 to 140 of about 562,389 (285)

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

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +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

European multicentre study on outcome of surgery for sporadic primary hyperparathyroidism

BJS (British Journal of Surgery), EarlyView., 2020
Some 5861 patients undergoing first‐time surgery for sporadic primary hyperparathyroidism were registered in the Eurocrine® database between 2015 and 2018. The use of intraoperative parathyroid hormone measurement decreased the risk of conversion and persistent hypercalcaemia.
A. Bergenfelz, S. van Slycke, Ö. Makay, L. Brunaud   +3 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Timing of Meals and Exercise Affects Hormonal Control of Glucoregulation, Insulin Resistance, Substrate Metabolism, and Gastrointestinal Hormones, but Has Little Effect on Appetite in Postmenopausal Women. [PDF]

Nutrients, 2021
Borer KT, Lin PJ, Wuorinen E.
europepmc   +1 more source

Role of fecal calprotectin in gastrointestinal disorders.

, 2013
BACKGROUND: Fecal calprotectin (FC) has been proposed as a useful and non-invasive marker of acute intestinal inflammation. AIM: We summarize recent evidences on FC, providing practical perspectives on its diagnostic and prognostic role in ...
Montalto, Massimo, Landolfi, Raffaele, Gasbarrini, Antonio, Gallo, Antonella, D'Onofrio, Ferruccio, Santoro, Luca   +5 more
core  

A Rare Cause of Upper Gastrointestinal Bleeding: Aorta-Esophageal Fistula

Aortoesophageal fistula (AEF) is rarely seen in gastroenterology practice. It is a very fatal condition. Common causes of AEF are aortic aneurysms and dissections, foreign body ingestion, traumatic aortic injuries, ruptured penetrating aortic ulcers ...
Halil Çapar, Duran Deha Çetin, Bünyamin Sarıtaş, Ayşe Yıldırım Çelikdemir, Şehmus Ölmez, Ferid Cereb   +5 more
core   +1 more source

Baihe Zhimu Decoction ameliorates anxious depression via PI3K/AKT/mTOR pathway‐mediated neuroprotection and inhibition of hippocampal neuronal apoptosis

Animal Models and Experimental Medicine, EarlyView.
Baihe Zhimu Decoction alleviates anxious depression‐like behaviors and protects hippocampal neurons. Chemical profiling and network pharmacology reveal multiple active components acting via the PI3K/AKT/mTOR pathway, enhancing neuronal survival and function, as confirmed by multi‐level in vitro and in vivo validation.
Yuanshan Han, Kexin He, Haolan Yang, Jiacheng Dai, Ronglin Chen, Yang Liu, Yuhong Wang, Lin Tang, Hongqing Zhao   +8 more
wiley   +1 more source

Gastrointestinal regulation of food intake: do gut motility, enteric nerves and entero-hormones play together?

, 2011
The gastrointestinal system can be considered the gateway for food entry in our body. Rather than being a passive player, it is now clear that gut strongly influence the feeding behavior and contribute to maintain energy balance with different signals ...
SARNELLI, GIOVANNI, CUOMO, ROSARIO, P. Andreozzi, A. D'Alessandro, L. Vozzella   +4 more
core