Results 81 to 90 of about 10,576 (237)

Congenital Hyperinsulinism Disorders: Genetic and Clinical Characteristics

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to a high risk of neurocognitive impairment.
Elizabeth Rosenfeld, A. Ganguly, Diva D. De León   +2 more
semanticscholar   +1 more source

Genotype–Phenotype Spectrum of Non‐Syndromic Monogenic Obesity in a National Paediatric Cohort

Pediatric Obesity, Volume 21, Issue 6, June 2026.
ABSTRACT Objective Non‐syndromic monogenic obesity, caused by defects in the leptin‐melanocortin pathway, presents with early‐onset severe obesity and hyperphagia, but genotype–phenotype and metabolic correlations across different genetic forms remain unclear.
Ahmet Kahveci, Selin Uzun Karauzum, Hayrullah Manyas, Behiye Sarikaya Ozdemir, Zerrin Orbak, Ummahan Tercan, Ruken Yildirim, Nihal Hatipoglu, Fatih Kilci, Hatice Nursoy, Servan Ozalkak, Baris Kolbasi, Semra Cetinkaya, Hazal Canbaz Ozdemir, Mesut Parlak, Filiz Tutunculer Kokenli, Emine Camtosun, Saime Ergen Dibeklioglu, Gonul Buyukyilmaz, Ayse Derya Bulus, Hanife Gul Balki, Ayse Ozden, E. Nazli Gonc, Elif Ozsu, Huseyin Demirbilek, Melek Yildiz, Samim Ozen, Abdullah Bereket, Belma Haliloglu   +28 more
wiley   +1 more source

Variables associated with endogenous hyperinsulinism in hypoglycemia diagnosis. Could the 72-hour fasting test be shortened in low-risk patients?

Journal of Clinical & Translational Endocrinology
Background: The 72-hour fasting test remains the standard for the diagnosis of endogenous hyperinsulinism. We investigated which variables could identify patients at low risk for endogenous hyperinsulinism, in whom a shortening of the 72-hour fasting ...
Tomás González-Vidal, Óscar Lado-Baleato, Inés Masid, Carmen Gándara-Gutiérrez, Gema Martínez-Tamés, Jessica Ares, Carmen Lambert, María Riestra-Fernández, Francisco Gude, Elías Delgado, Edelmiro Menéndez-Torre   +10 more
doaj   +1 more source

GGAs: Regulation of Multiple Sorting Pathways and Potential Association With Human Diseases

Journal of Cellular and Molecular Medicine, Volume 30, Issue 11, June 2026.
ABSTRACT Golgi‐localized gamma‐ear‐containing Arf‐binding proteins (GGAs) are a family of monomeric clathrin adaptors that function in intracellular vesicle trafficking. The three GGA family members—GGA1, GGA2 and GGA3—were first identified as sorting adaptors almost simultaneously by independent research groups in 2000. It is now well established that
Qinqin Wang, Juan Mei, Shuyue Li, Guoan Zhang, Jian Qiu, Xuezhi Li   +5 more
wiley   +1 more source

Nationwide survey of endogenous hyperinsulinemic hypoglycemia in Japan (2017–2018): Congenital hyperinsulinism, insulinoma, non‐insulinoma pancreatogenous hypoglycemia syndrome and insulin autoimmune syndrome (Hirata’s disease)

Journal of Diabetes Investigation, 2019
We aimed to investigate the nationwide incidence, treatment details and outcomes of patients with endogenous hyperinsulinemic hypoglycemia (EHH), including those with transient/persistent congenital hyperinsulinism (CHI), insulinoma, non‐insulinoma ...
Yuki Yamada, Kana Kitayama, Maki Oyachi, Shinji Higuchi, R. Kawakita, Y. Kanamori, T. Yorifuji   +6 more
semanticscholar   +1 more source

Exercise-induced hyperinsulinism: genetic basis and clinical management

中国当代儿科杂志
Exercise-induced hyperinsulinism, also known as monocarboxylate transporter 1 hyperinsulinemia, is a rare subtype of congenital hyperinsulinism caused by gain-of-function variants in the SLC16A1 gene, which encodes monocarboxylate transporter 1.
ZHANG Qi-Ting, HOU Ling
doaj   +1 more source

How Pre‐Pregnancy Weight and Polycystic Ovary Syndrome Impact Pregnancy Outcomes: A Population‐Based Cohort Study

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims Pre‐pregnancy overweight/obese status among women with polycystic ovary syndrome (PCOS) could increase the risk of at least one adverse pregnancy outcome (APO). This study aimed to determine how pre‐pregnancy weight and PCOS impact pregnancy outcomes. Methods For the current study, we used data collected in the Tehran Lipid
Elahe Sheklabadi, Marzieh Saei Ghare Naz, Maryam Mousavi, Maryam Rahmati, Seyed Alireza Ebadi, Fereidoun Azizi, Fahimeh Ramezani Tehrani   +6 more
wiley   +1 more source

Possible New Strategies for the Treatment of Congenital Hyperinsulinism

Frontiers in Endocrinology, 2020
Objective Congenital hyperinsulinism (CHI) is a rare disease characterized by persistent hypoglycemia as a result of inappropriate insulin secretion, which can lead to irreversible neurological defects in infants. Poor efficacy and strong adverse effects
J. Sikimić, T. Hoffmeister, Anne Gresch, Julia K. Kaiser, W. Barthlen, C. Wolke, I. Wieland, U. Lendeckel, P. Krippeit-Drews, M. Düfer, G. Drews   +10 more
semanticscholar   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Genotype-phenotype association in children with congenital hyperinsulinism

, 2012
Genotype-phenotype association in children with congenital ...
Brusgaard, Klaus, Peterkova, V., Petraykina, E., Christesen, Henrik Thybo, Gurevich, L., Melikyan, M., Averyanova, Y., Volkov, I   +7 more
core   +3 more sources