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Nihon Rinsho. Japanese Journal of... Sep 2006
Review
Topics: Abnormalities, Multiple; Child; Diagnosis, Differential; Female; Fetal Growth Retardation; Humans; Hypoglycemic Agents; Infant; Insulin; Insulin Resistance; Insulin-Like Growth Factor I; Lipodystrophy; Mutation; Prognosis; Receptor, Insulin; Recombinant Proteins; Syndrome
PubMed: 17022508
DOI: No ID Found -
Nihon Rinsho. Japanese Journal of... Oct 1994The syndrome of leprechaunism is characterized by the elfin-like face, hirsutism, acanthosis nigricans, absence of subcutaneous fat, and intrauterine and neonatal growth... (Review)
Review
The syndrome of leprechaunism is characterized by the elfin-like face, hirsutism, acanthosis nigricans, absence of subcutaneous fat, and intrauterine and neonatal growth retardation. Most of the cases have severe insulin resistance with the mutation of the insulin receptor gene. In some cases, patient had two different mutations of the insulin receptor gene, and showed extremely severe insulin resistance. However, the genetic abnormalities responsible for the patient's phenotype, other than the insulin resistance, have not been found. Further study to define the additional genetic defects will be necessary to understand the abnormalities of this disorder.
Topics: Abnormalities, Multiple; Acanthosis Nigricans; Diabetes Mellitus; Face; Growth Disorders; Hirsutism; Humans; Insulin Resistance; Mutation; Receptor, Insulin; Syndrome
PubMed: 7983792
DOI: No ID Found -
Archives de Pediatrie : Organe Officiel... Feb 2014Donohue syndrome or leprechaunism is a severe congenital insulin-resistance syndrome. It is characterized by intra-uterine and neonatal growth retardation, typical...
Donohue syndrome or leprechaunism is a severe congenital insulin-resistance syndrome. It is characterized by intra-uterine and neonatal growth retardation, typical dysmorphic features, and metabolic abnormalities with hyperinsulinism and hyperandrogenism. Problems in energy metabolism and loss of glucose homeostasis are responsible for early death in the first year of life. We describe a case with a novel homozygote mutation in the insulin receptor gene. This patient had hypertrophic cardiomyopathy with heart failure and bronchial compression leading to clinical deterioration over 5 days and subsequently death. A treatment with recombinant IGF-1 was tried without efficacy.
Topics: Antigens, CD; Blood Glucose; Cardiomyopathy, Hypertrophic; Chromosomes, Human, Pair 19; Consanguinity; DNA Mutational Analysis; Donohue Syndrome; Echocardiography; Exons; Fatal Outcome; Female; Follow-Up Studies; Genetic Carrier Screening; Heart Failure; Homozygote; Humans; Infant, Newborn; Introns; Receptor, Insulin; Shock, Cardiogenic
PubMed: 24388461
DOI: 10.1016/j.arcped.2013.11.016 -
JAMA Jun 2023SARS-CoV-2 infection is associated with persistent, relapsing, or new symptoms or other health effects occurring after acute infection, termed postacute sequelae of...
IMPORTANCE
SARS-CoV-2 infection is associated with persistent, relapsing, or new symptoms or other health effects occurring after acute infection, termed postacute sequelae of SARS-CoV-2 infection (PASC), also known as long COVID. Characterizing PASC requires analysis of prospectively and uniformly collected data from diverse uninfected and infected individuals.
OBJECTIVE
To develop a definition of PASC using self-reported symptoms and describe PASC frequencies across cohorts, vaccination status, and number of infections.
DESIGN, SETTING, AND PARTICIPANTS
Prospective observational cohort study of adults with and without SARS-CoV-2 infection at 85 enrolling sites (hospitals, health centers, community organizations) located in 33 states plus Washington, DC, and Puerto Rico. Participants who were enrolled in the RECOVER adult cohort before April 10, 2023, completed a symptom survey 6 months or more after acute symptom onset or test date. Selection included population-based, volunteer, and convenience sampling.
EXPOSURE
SARS-CoV-2 infection.
MAIN OUTCOMES AND MEASURES
PASC and 44 participant-reported symptoms (with severity thresholds).
RESULTS
A total of 9764 participants (89% SARS-CoV-2 infected; 71% female; 16% Hispanic/Latino; 15% non-Hispanic Black; median age, 47 years [IQR, 35-60]) met selection criteria. Adjusted odds ratios were 1.5 or greater (infected vs uninfected participants) for 37 symptoms. Symptoms contributing to PASC score included postexertional malaise, fatigue, brain fog, dizziness, gastrointestinal symptoms, palpitations, changes in sexual desire or capacity, loss of or change in smell or taste, thirst, chronic cough, chest pain, and abnormal movements. Among 2231 participants first infected on or after December 1, 2021, and enrolled within 30 days of infection, 224 (10% [95% CI, 8.8%-11%]) were PASC positive at 6 months.
CONCLUSIONS AND RELEVANCE
A definition of PASC was developed based on symptoms in a prospective cohort study. As a first step to providing a framework for other investigations, iterative refinement that further incorporates other clinical features is needed to support actionable definitions of PASC.
Topics: Female; Adult; Humans; Middle Aged; Male; SARS-CoV-2; COVID-19; Prospective Studies; Post-Acute COVID-19 Syndrome; Cohort Studies; Disease Progression; Fatigue
PubMed: 37278994
DOI: 10.1001/jama.2023.8823 -
Cardiology in the Young Apr 2016We report the case of a patient with Donohue syndrome who died of heart failure due to obstructive hypertrophic cardiomyopathy. A literature survey revealed that...
We report the case of a patient with Donohue syndrome who died of heart failure due to obstructive hypertrophic cardiomyopathy. A literature survey revealed that hypertrophic cardiomyopathy was present in 30% of these patients and was often fatal. Therefore, every patient with Donohue syndrome should be screened for hypertrophic cardiomyopathy.
Topics: Cardiomyopathy, Hypertrophic; Donohue Syndrome; Humans; Infant, Newborn; Male
PubMed: 26555333
DOI: 10.1017/S1047951115002437 -
The Pan African Medical Journal 2021
Topics: Abnormalities, Multiple; Donohue Syndrome; Growth Disorders; Humans
PubMed: 35178143
DOI: 10.11604/pamj.2021.40.232.31738 -
Journal of the Indian Society of... 2012Rabson-Mendenhall syndrome is a rare, autosomal recessive disorder affecting insulin receptor. This disorder is characterized by insulin-resistant diabetes mellitus,...
Rabson-Mendenhall syndrome is a rare, autosomal recessive disorder affecting insulin receptor. This disorder is characterized by insulin-resistant diabetes mellitus, hyperinsulinemia, deficiency of subcutaneous fat, acanthosis nigrican, growth retardation, coarse and senile appearance, precocious puberty, and dental prematurity, enlarged genitalia, and pineal hyperplasia. Mutations of the insulin receptor gene affecting insulin action appear to be the basic mechanism underlying this syndrome. Herein, we present a case report on Rabson-Mendenhall syndrome in a 9-year-old girl.
Topics: Aging, Premature; Child; Donohue Syndrome; Female; Humans; Macroglossia; Maxilla; Open Bite; Tooth Eruption
PubMed: 23263437
DOI: 10.4103/0970-4388.105026 -
Endocrinologia Y Nutricion : Organo de... Jan 2016
Topics: Donohue Syndrome; Humans; Infant; Infant, Newborn; Insulin Resistance; Male; Receptor, Insulin
PubMed: 26619761
DOI: 10.1016/j.endonu.2015.10.002 -
Ryoikibetsu Shokogun Shirizu 2000
Review
Topics: Abnormalities, Multiple; Diagnosis, Differential; Dwarfism; Face; Female; Growth Disorders; Humans; Infant; Insulin Resistance; Mutation; Prognosis; Receptor, Insulin; Syndrome
PubMed: 11057198
DOI: No ID Found -
Acta Pathologica Japonica Mar 1974
Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Abnormalities, Multiple; Autopsy; Dwarfism; Estrogens; Female; Humans; Infant, Newborn; Lipodystrophy; Pancreas; Progeria
PubMed: 4407754
DOI: 10.1111/j.1440-1827.1974.tb00825.x