Results 41 to 50 of about 510,633 (288)

Modern therapeutic aspects in two cases of congenital hyperinsulinism [PDF]

open access: yesRomanian Journal of Pediatrics, 2020
In this article we will present the therapeutic and clinical aspects found in the case of two pediatric patients diagnosed with congenital hyperinsulinism.
Cristian Minulescu, Dana Spirea
doaj   +1 more source

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. [PDF]

open access: yesPLoS ONE, 2008
Although the most common mechanism underlying congenital hyperinsulinism is dysfunction of the pancreatic ATP-sensitive potassium channel, the pathogenesis and genetic origins of this disease remains largely unexplained in more than half of all patients.
M Mar González-Barroso   +8 more
doaj   +1 more source

Does visual experience influence arm proprioception and its lateralization? Evidence from passive matching performance in congenitally-blind and sighted adults [PDF]

open access: yesNeuroscience Letters, 2023, 137335, pp.137335, 2023
In humans, body segments' position and movement can be estimated from multiple senses such as vision and proprioception. It has been suggested that vision and proprioception can influence each other and that upper-limb proprioception is asymmetrical, with proprioception of the non-dominant arm being more accurate and/or precise than proprioception of ...
arxiv   +1 more source

Transient congenital hyperinsulinism and hemolytic disease of a newborn despite rhesus D prophylaxis: a case report

open access: yesJournal of Medical Case Reports, 2021
Background In neonates, rhesus D alloimmunization despite anti-D immunoglobulin prophylaxis is rare and often unexplained. Rhesus D alloimmunization can lead to hemolytic disease of the newborn with anemia and unconjugated hyperbilirubinemia.
Sandra Simony Tornoe Riis   +8 more
doaj   +1 more source

Health-Related Quality of Life of Children and Adolescents With Congenital Hyperinsulinism – A Scoping Review

open access: yesFrontiers in Endocrinology, 2021
IntroductionDespite improvements in diagnosis and therapeutic advances in treatment, congenital hyperinsulinism (CHI) remains a severe disease with high patient impairment.
Kaja Kristensen   +2 more
doaj   +1 more source

Indocyanine Green (ICG)-Guided Identification of Hypermetabolic Pancreatic Nodules in Focal Congenital Hyperinsulinism: A Case Report in a 3-Month-Old Infant

open access: yesEuropean Journal of Pediatric Surgery Reports, 2022
Indocyanine green (ICG)-guided near-infrared fluorescence has been recently adopted in pediatric surgery, although its use in the treatment of congenital hyperinsulinism has not been reported.
Carlos Delgado-Miguel   +7 more
doaj   +1 more source

Auditory cortex and beyond: Deficits in congenital amusia [PDF]

open access: yesHearing Research, 2023, 437, pp.108855, 2023
Congenital amusia is a neuro-developmental disorder of music perception and production, with the observed deficits contrasting with the sophisticated music processing reported for the general population. Musical deficits within amusia have been hypothesized to arise from altered pitch processing, with impairments in pitch discrimination and, notably ...
arxiv   +1 more source

Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia [PDF]

open access: yes, 2015
Objective: To study the clinical and molecular characteristics of a sample of Brazilian patients with Congenital Hyperinsulinemic Hypoglycemia (CHH).Methods: Electronic message was sent to members from Endocrinology Department-Brazilian Society of ...
Della Manna, Thais   +5 more
core   +6 more sources

The etiology of cardiac hypertrophy in infants

open access: yesScientific Reports, 2021
This study aimed to describe the variety of etiologies currently identified in infants with cardiac hypertrophy (CH) and investigate whether there is a relation with hyperinsulinism, echocardiographic characteristics and prognosis.
Raymond Stegeman   +5 more
doaj   +1 more source

Congenital hyperinsulinism: clinical cases

open access: yesКубанский научный медицинский вестник, 2022
Background. Congenital hyperinsulinism (CHI) is a hereditary disorder presenting with the hypersecretion of insulin by pancreatic beta cells and further development of hypoglycaemia. CHI is an orphan disease.
I. Yu. Chernyak   +4 more
doaj   +1 more source

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