Results 31 to 40 of about 419 (137)

Early‐Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In‐Frame Abnormal Transcripts

Human Mutation, Volume 2023, Issue 1, 2023., 2023
Rare pathogenic variants in the MYH11 gene are responsible for thoracic aortic aneurysms and dissections. They are usually heterozygous missense variants or in‐frame deletions of several amino acids without alteration of the reading frame and mainly affect the coiled‐coil domain of the protein.
Pauline Arnaud, Margaux Cadenet, Zakaria Mougin, Carine Le Goff, Sébastien Perbet, Mathilde Francois, Sophie Dupuis-Girod, Catherine Boileau, Nadine Hanna, John McVey   +9 more
wiley   +1 more source

Assessment of Cardiovascular Disease Risk in Females with Subclinical Hypothyroidism

Journal of Lipids, Volume 2023, Issue 1, 2023., 2023
Background. Subclinical hypothyroidism (SCH) is a common endocrine disorder prevalent in the Nepalese female population. Dyslipidemia, a prerequisite to the development of cardiovascular disease, links the thyroid profile and cardiovascular disease risk. This study is aimed at assessing the cardiovascular disease risk in females with SCH. Methods. This
Anit Lamichhane, Pabitra Bista, Sushant Pokhrel, Kalasha Bolakhe, Govardhan Joshi, Suraj Aryal, Mandira Chhusyabaga, Jyotsna Shakya, Mahendra Prasad Bhatt, Clifford A. Lingwood   +9 more
wiley   +1 more source

How effectively are social accountability mechanisms being applied in mental health services within the newly federalized health system of Nepal? A multi-stakeholder qualitative study

BMC Health Services Research, 2023
Background The burden of mental health problems and inequalities in healthcare has emerged as critical issues, in Nepal. Strengthened citizen-driven social accountability (SA) is an effective strategy for building equitable health systems and providing ...
Hridaya Raj Devkota, Yuba Raj Baral, Bindu Khanal, Pratik Adhikary   +3 more
doaj   +1 more source

Prenatal diagnostic and management of megacystis microcolon intestinal hypoperistalsis syndrome: A report on a rare case in Cipto Mangunkusumo Hospital, Jakarta, Indonesia

Majalah Obstetri dan Ginekologi, 2020
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The characteristic features of this congenital and fatal disease are abdominal distension, absent or
Fita Maulina, Yuditiya Purwosunu
doaj   +1 more source

Phenotypic diversity in clinical and manometric characteristics of pediatric patients with ACTG2 mutations

Journal of Pediatric Surgery Case Reports, 2021
Heterogenous missense variants in ACTG2 have been identified in individuals with visceral myopathy and megacystis, microcolon, intestinal hypoperistalsis syndrome (MMIHS).
Sindhu Pandurangi, Khalil El-Chammas, Samuel A. Kocoshis, Ajay Kaul   +3 more
doaj   +1 more source

Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome

Clinical Case Reports, 2018
Key Clinical Message In the presence of megacystis in the second half of pregnancy, with increased amniotic fluid, especially in a female fetus, the most likely diagnostic result is megacystis, microcolon, intestinal hypoperistalsis syndrome, MMIHS.
Natalia Buinoiu, Anca Panaitescu, Mihaela Demetrian, Sebastian Ionescu, Gheorghe Peltecu, Alina Veduta   +5 more
doaj   +1 more source

Megacystis-microcolon-intestinal hypoperistalsis syndrome in a newborn after clomiphene ingestion during pregnancy

, 1987
A case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a newborn after clomiphene ingestion during pregnancy is described.

core   +2 more sources

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Molecular Genetics & Genomic Medicine, 2021
Background Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS).
Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien   +11 more
doaj   +1 more source

Megacystis-microcolon-intestinal Hypoperistalsis Syndrome (MMIHS) gadījuma ziņojums un literatūras apskats

, 2021
MedicīnaVeselības aprūpeMedicineHealth CareMērķis: Šī darba mērķis bija uzsvērt iespējamās profilakses un ārstēšanas stratēģijas, identificējot un aprakstot MMIHS pacienta galvenās komplikācijas, kā arī saistot tās ar citiem MMIHS pacientu gadījumu ...
Jessica Aurélie Elisabeth Boschet
core  

Natural history of patients with MMIHS due to ACTG2 de novo mutations.

, 2014
Natural history of patients with MMIHS due to ACTG2 de novo mutations.
Liene Kornejeva (544130), Timothy Moss (544126), Claudia Gonzaga-Jauregui (269566), Shalini Jhangiani (544135), Tomasz Gambin (39373), Yaping Yang (292220), Joke Beuten (544134), Steven Werlin (544128), Samantha Penney (544125), Michael F. Wangler (544124), Fan Xia (219575), Efrat Lev Lehman (544132), Carlos A. Bacino (273553), Frank J. Probst (256177), Jeff Neul (544131), Atul Chopra (544127), Richard A. Gibbs (94141), James R. Lupski (6678), Arthur Beaudet (544136), Dustin Baldridge (249058), Ieva Eglite (544129), Austin Larson (544133), Donna M. Muzny (133600)   +22 more
core   +1 more source