Results 51 to 60 of about 61,215 (262)

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

open access: yesAmerican 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   +11 more
wiley   +1 more source

Duodenal Ulcer as a Second Disease

open access: yesGastroenterology, 1970
The occurrence of coronary artery disease, chronic pulmonary disease, rheumatoid arthritis, and diabetes mellitus in a group of physicians with and without a history of duodenal ulcer has been determined by mail questionnaire. Even after adjustment for cigarette smoking, physicians with ulcer reported significantly more chronic pulmonary disease than ...
openaire   +2 more sources

Improving management of duodenal ulcer disease [PDF]

open access: yesPostgraduate Medical Journal, 1997
Summary Audit of treatment of duodenal ulcer disease has allowed management to improve and keep abreast of rapid advances in care. Eradication of Helicobacter pylori was assessed by 14C urea breath test one to two months after anti-Helicobacter therapy.
M C, Bateson, B L, Diffey
openaire   +2 more sources

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

open access: yesAmerican 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   +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

open access: yesAmerican 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   +13 more
wiley   +1 more source

Hallazgo endoscópico de linfoma folicular primario

open access: yesBiomédica: revista del Instituto Nacional de Salud, 2015
Una mujer de 79 años, sin antecedentes patológicos de importancia, consultó al servicio de gastro-enterología por síntomas de dispepsia de larga data. Se practicó una esofagogastroduodenoscopia en la que se observó mucosa nodular en la segunda porción ...
Diana L. Franco   +2 more
doaj   +1 more source

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

open access: yesAmerican 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   +2 more
wiley   +1 more source

Clinical outcome of a highly flexible duodenal stent for gastric outlet obstruction: A multicenter prospective study

open access: yesJGH Open, 2020
Background and Aim Endoscopic duodenal stenting for patients with malignant gastric outlet obstruction (GOO) has been widespread; however, clinical trials evaluating the structures of duodenal stents are lacking.
Haruo Miwa   +14 more
doaj   +1 more source

Stem cell–based therapies for type 1 diabetes: Progress in differentiation, clinical translation, and immune protection

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Directed differentiation of pluripotent stem cells into functional pancreatic β cells have emerged as a promising strategy for the radical treatment of type 1 diabetes, with preclinical and early clinical evidence demonstrating reversal of hyperglycemia and insulin independence.
Zifan Li, Yu Kang, Yuyu Niu
wiley   +1 more source

Вивчення мікробіоти кишечника й дуоденального вмісту у хворих на лямбліоз із супутніми алергічними захворюваннями шкіри

open access: yesAnnals of Mechnikov's Institute
Background. Giardia lamblia can be an etiological factor of allergic skin diseases. In the human body, giardia create parasitocenosis. Giardia’s colonization of the intestine causes dysbiosis throughout the gut that persists during infection, in turn ...
Olena Pоkryshkо   +7 more
doaj   +1 more source

Home - About - Disclaimer - Privacy