Results 81 to 90 of about 53,075 (304)

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

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

Extrahepatic complications of liver transplantation. [PDF]

, 1985
The massive surgical assault associated with hepatic transplantation makes a high frequency of complications almost inevitable. In this review of 225 patient records, selected at random from cases of liver transplantation in Pittsburgh over a 2 1/2 year ...
Shaw, BW, Starzl, TE, Wood, RP
core   +1 more source

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

Stenting versus gastrojejunostomy for management of malignant gastric outlet obstruction: comparison of clinical outcomes and costs [PDF]

, 2012
BACKGROUND: Although endoscopic stenting is increasingly performed, surgical gastrojejunostomy (GJ) is still considered the gold standard for relief of malignant gastric outlet obstruction (GOO).
Ann Roy, John Christein, Micheline Kim, Shyam Varadarajulu   +3 more
core   +1 more source

Dietary Baicalin Supplementation Can Enhance the Growth Performance of Weaned Piglets and Maintain the Intestinal Barrier Integrity

Animal Research and One Health, EarlyView.
This research innovatively illustrates baicalin’s multifaceted mechanisms in enhancing piglets’ intestinal health: modulating bile acid metabolism via probiotics, reinforcing tight junction proteins (ZO‐1/claudin), suppressing TLR4/NF‐κB‐mediated inflammation, whereas promoting growth and reducing diarrhea.
Yuhui Gao, Jie Liu, Rui Yang, Xizhen Fan, Cheng Liang, Xin'e Shi, Jianjun Jin   +6 more
wiley   +1 more source

Use of a colonoscope for distal duodenal stent placement in patients with malignant obstruction [PDF]

, 2009
Background: Stent placement in the distal duodenum or proximal jejunum with a therapeutic gastroscope can be difficult, because of the reach of the endoscope, loop formation in the stomach, and flexibility of the gastroscope. The use of a colonoscope may
A Dormann, Alessandro Repici, AS Ross, AW Nevitt, Carmelo Luigiano, DG Adler, E Fiori, Ernst J. Kuipers, GH Kim, GS Jung, HU Laasch, HY Song, I Maetani, J Espinel, JE Lopera, JJ Telford, JM Lee, KB Park, M Piano Del, MR Yates III, N Bethge, Nico Pagano, Peter D. Siersema, PI Pinto, S Mehta, SM Jeurnink, Suzanne M. Jeurnink, TH Baron   +27 more
core   +4 more sources

Reduction of Ribonucleotide Reductase Subunit RRM2 Potentially Impairs Gut Function of Woody Breast Broilers

Animal Research and One Health, EarlyView.
Woody breast compromises meat quality leading to reduced consumer appeal. Although its causes are unclear, improvements observed with certain dietary supplements suggest that gut health may influence woody breast development. Ribonucleotide reductase subunit RRM2 is vital for mitochondrial function and gastrointestinal integrity, and alteration in its ...
Majid Shakeri, Elizabeth Ziabtchenko, Janghan Choi, Caitlin E. Harris, Richard J. Buhr, Trevor R. Mitchell, Byungwhi Kong, Hong Zhuang, Brian Bowker   +8 more
wiley   +1 more source

Bouveret’s Syndrome: 64-Slice CT Diagnosis and Surgical Management—A Case Report

Case Reports in Radiology, 2012
Gastric outlet obstruction caused by duodenal impaction of a large gallstone migrated through a cholecystoduodenal fistula has been referred to as Bouveret’s syndrome.
Dinesh Sharma, Rajan Sood, Ashwani Tomar, Anupam Jhobta, Shruti Thakur, R. G. Sood   +5 more
doaj   +1 more source

Gastric Outlet Obstruction in a Patient with Bouveret's Syndrome: a Case Report [PDF]

, 2013
BACKGROUND: Gallstone ileus accounts for 1% to 4% of cases of mechanical bowel obstruction, but may be responsible for up to 25% of cases in older age groups.
Cardoso, C, Fradique, AC, Morujão, I, Nabais, C, Porto, E, Salústio, R, Sousa, FV   +6 more
core   +1 more source