Results 61 to 70 of about 1,750,371 (298)

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Brain Regulation of Cardiac Function during Hypoglycemia

Metabolites, 2023
Hypoglycemia occurs frequently in people with type 1 and type 2 diabetes. Hypoglycemia activates the counter-regulatory response. Besides peripheral glucose sensors located in the pancreas, mouth, gastrointestinal tract, portal vein, and carotid body ...
Matthew E. Chambers, Emily H. Nuibe, Candace M. Reno-Bernstein   +2 more
doaj   +1 more source

Performance metrics of case-identifying algorithms for severe hypoglycemia (all evaluated algorithms).

, 2023
Performance metrics of case-identifying algorithms for severe hypoglycemia (all evaluated algorithms).
Makoto Imori (9127202), Machiko Minatoya (5729867), Yasuyuki Okumura (3079893), Satoshi Osaga (7901168), Takeshi Kimura (159578), Rina Chin (799109)   +5 more
core   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Persistent hyperinsulinemic hypoglycemia of infancy: An overview of current concepts

Journal of Indian Association of Pediatric Surgeons, 2012
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is relatively rare but one of the most important causes of severe neonatal hypoglycemia.
Prabudh Goel, Subhasis Roy Choudhury
doaj   +1 more source

Performance metrics of selected algorithms for severe hypoglycemia in patient subgroups (selected algorithms).

, 2023
Performance metrics of selected algorithms for severe hypoglycemia in patient subgroups (selected algorithms).
Makoto Imori (9127202), Machiko Minatoya (5729867), Yasuyuki Okumura (3079893), Satoshi Osaga (7901168), Takeshi Kimura (159578), Rina Chin (799109)   +5 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Effect of recurrent severe insulin-induced hypoglycemia on the cognitive function and brain oxidative status in the rats

Diabetology & Metabolic Syndrome
Background Episodes of recurrent or severe hypoglycemia can occur in patients with diabetes mellitus, insulinoma, neonatal hypoglycemia, and medication errors.
Mahvash Nikpendar, Mohammad Javanbakht, Hamidreza Moosavian, Sepideh Sajjadi, Yalda Nilipour, Toktam Moosavian, Mahsa Fazli   +6 more
doaj   +1 more source

Severe hypoglycemia in the Look AHEAD Trial [PDF]

Journal of Diabetes and its Complications, 2016
The Look AHEAD trial was a multi-center, randomized controlled trial, to determine whether weight loss reduces cardiovascular morbidity and mortality in overweight individuals with type 2 diabetes. The objective of this study was to evaluate the incidence of severe hypoglycemia in patients enrolled in Look AHEAD.
openaire   +2 more sources

Hypoglycemia and Hyperinsulinemia in Rodent Models of Severe Malaria Infection [PDF]

, 1994
Severe hypoglycemia developed during nonlethal Plasmodium chabaudi and lethal P. yoelii blood stage malaria infection in mice, always in association with hyperinsulinemia. Supernatants of lethal P.
Playfair, J. H. L., Elased, Khalid M.
core   +1 more source