Results 101 to 110 of about 101,177 (312)

Th17, intestinal microbiota and the abnormal immune response in the pathogenesis of celiac disease [PDF]

, 2015
Celiac disease (CD) is an autoimmune enteropathy induced by the ingestion of gluten in genetically predisposed individuals who carry the HLA-DQ2 or -DQ8 alleles.
Cicerone, Clelia, Nenna, Raffaella, Pontone, Stefano   +2 more
core  

The fecal microbiome in dogs with acute diarrhea and idiopathic inflammatory bowel disease. [PDF]

, 2012
Recent molecular studies have revealed a highly complex bacterial assembly in the canine intestinal tract. There is mounting evidence that microbes play an important role in the pathogenesis of acute and chronic enteropathies of dogs, including ...
Cook, Audrey K., Dillman, Enricka M., Dowd, Scot E., García Mazcorro, José Francisco, Heilmann, Romy M., Heimesaat, Markus M., Ivanov, Ivan, Kachroo, Priyanka, Markel, Melissa, Minamoto, Yasushi, Steiner, Jörg M., Suchodolski, Jan S., Toresson, Linda, Unterer, Stefan   +13 more
core   +5 more sources

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

A Giant Duodenal Leiomyoma Showing Increased Uptake on 18F-Fluorodeoxyglucose Positron Emission Tomography

Case Reports in Surgery, 2018
Background. Although 18F-fluorodeoxyglucose positron emission tomography (FDG-PET/CT) is now widely used in their differential diagnosis, it is sometimes difficult to distinguish between benign and malignant diseases. Case Presentation.
Keisuke Nonoyama, Hidehiko Kitagami, Akira Yasuda, Shiro Fujihata, Minoru Yamamoto, Yasunobu Shimizu, Moritsugu Tanaka   +6 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

A new formulation of oral viscous budesonide in treating of paediatric eosinophilic oesophagitis: a pilot study [PDF]

, 2017
OBJECTIVES: Oral viscous budesonide is a recent therapeutic option for eosinophilic oesophagitis (EoE) compared with dietary restriction and inhaled steroids.
Amil, D. J., Cucchiara, S., Isoldi, S., Lucarelli, S., Oliva, S., Papoff, P., Rossetti, D., Rossi, P., Tiberti, A.   +8 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Dissecting the bidirectional associations between the progression of gastrointestinal and endocrine diseases

Frontiers in Endocrinology
BackgroundsThe widespread intrinsic link between gastrointestinal and endocrine diseases was poorly understood. We aimed to dissect the bidirectional association in the progression of gastrointestinal with endocrine diseases, either the overall ...
Hongyan Liu, Hongyan Liu, Shucheng Si, Shucheng Si, Hua Zhang, Hua Zhang, Siyan Zhan, Siyan Zhan, Siyan Zhan, Siyan Zhan   +9 more
doaj   +1 more source

Salivary secretion in duodenal ulcer disease [PDF]

Gut, 1972
Salivary response to stimulation with citric acid was higher in patients with duodenal ulcer disease than in patients with other diseases of the upper gastrointestinal tract. This increase was proportional to an increase of histamine-stimulated gastric acid secretion.
openaire   +2 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source