Results 1 to 10 of about 89 (82)

Protein-losing enteropathy

Terapevticheskii arkhiv, 2017
Protein-losing enteropathy (PLE) is a rare complication of intestinal diseases. Its main manifestation is hypoproteinemic edema. The diagnosis of PLE is based on the verification of protein loss into the intestinal lumen, by determining fecal α1-antitrypsin concentration and clearance. The localization of the affected colonic segment is clarified using
A I Parfenov, L M Krums
openaire   +3 more sources

Sarcoidosis and protein losing enteropathy

Gastroenterology, 1980
The authors report a case of sarcoidosis associated with protein losing enteropathy. The diagnosis of intrathoracic stage I sarcoidosis was based on x-ray and biopsy of mediastinal lymph nodes. Enteric protein loss was suspected because of edema lasting for 2 yr, hypoproteinemia, decreased concentrations of serum immunoglobulins, and lymphopenia ...
O S, Popović, S, Brkić, P, Bojić, V, Kenić, N, Jojić, V, Djurić, N, Djordjević   +6 more
openaire   +2 more sources

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 Family with Protein-Losing Enteropathy

Gastroenterology, 1974
This a report of a family of two sibships resulting from consanguineous matings of first cousins once removed. Eight of 28 children in the two sibships were affected by edema, growth retardation, diarrhea, abdominal pain, or clubbing, in varying combinations. In 4 patients, ascites developed and all 4 died.
M, Shani, E, Theodor, M, Frand, B, Goldman   +3 more
openaire   +2 more sources

Gastric duplication cyst causing hypergastrinemia in an infant

JPGN Reports, EarlyView.
Abstract Gastric duplication cysts are rare congenital anomalies, with fewer than 10% occurring in the stomach. We report a 14‐month‐old girl presenting with failure to thrive, recurrent emesis, hematemesis, and severe duodenitis with ulceration. Laboratory evaluation revealed marked hypergastrinemia (1781 pg/mL), and initial imaging was unrevealing ...
Nathan Bryan, Ian Leibowitz
wiley   +1 more source

Gut function among children treated for severe acute malnutrition: A cohort study in Uganda

JPGN Reports, EarlyView.
Abstract Objectives Impaired gut function in children with severe acute malnutrition (SAM) is associated with morbidity. We aimed to assess changes in six biomarkers representing different domains of gut function among children with complicated SAM during nutritional rehabilitation, and to identify predictors of these changes.
Betty Lanyero, Nicolette Nabukeera–Barungi, Ezekiel Mupere, Bikila S. Megersa, Iris Weidema, Pingping Jiang, Maria Wiese, Musemma K. Muhammed, Henrik Friis, Hanne Frøkiær, Dennis S. Nielsen, Vibeke Brix Christensen, Benedikte Grenov   +12 more
wiley   +1 more source

Chronic Intestinal Failure During the Neonatal Period Related to Height at Five Years of Age

Acta Paediatrica, EarlyView.
ABSTRACT Aim To clarify if children with chronic intestinal failure during the neonatal period had a different height at 5 years of age compared to standardised Swedish growth charts. Methods This retrospective cohort study of children with chronic intestinal failure during the neonatal period in Gothenburg between 2004 and 2018.
Johanna Mårtenson, Helena Borg, Julius Kristjansson, Anton Holmgren, Nils Ekvall, Anders Elfvin   +5 more
wiley   +1 more source

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Clinical benefit of faecal microbiota transplantation administered via a single retention enema as an adjunctive treatment in dogs with chronic enteropathy: a randomised controlled trial

Journal of Small Animal Practice, EarlyView.
Objectives To evaluate the clinical benefit of faecal microbiota transplantation administered via a single retention enema, as an adjunctive treatment in the management of dogs with chronic enteropathy. Materials and Methods Blinded, randomised controlled trial.
F. Allerton, M. J. Whittle, L. Durkin, C. Prior, M. Trehy, H. Swales, F. Duplan, S. Borgonovi, G. Pinchbeck, I. Gajanayake, M. Dunning, T. Sparks, P. Watson, G. C. A. Amos, K. McCallum, J. Bazelle, A. Kent   +16 more
wiley   +1 more source

Codocytosis in the Dog: 345 Cases (2020–2022)

Veterinary Clinical Pathology, EarlyView.
ABSTRACT Introduction Codocytes, or target cells, are a morphologic variation of erythrocytes characterized by increased membrane surface area relative to volume. In dogs, codocytosis is frequently noted on blood smear evaluation, but its clinical significance remains poorly understood. Objectives To characterize the clinical conditions associated with
Sarena M. Krojanker, Maria Jaramillo, Brad D. Cingolani, Floyd L. Williams Jr., Priscila B. S. Serpa, Andrew D. Woolcock   +5 more
wiley   +1 more source