Presentation
Affected patients often present with life-threatening diarrhea, in the first few weeks of life. [ncbi.nlm.nih.gov]
Cardiac malformations are present in most cases. [karger.com]
Diabetes mellitus is typically associated with malabsorptive diarrhea at early onset or at later presentation in neurogenin‐3 mutation. [onlinelibrary.wiley.com]
Main body We retrospectively reviewed the clinical data of four children from unrelated families, who presented with neonatal-onset, chronic, watery, non-bloody diarrhea. [ojrd.biomedcentral.com]
Case report The patient was born at 37 weeks gestation with intrauterine growth retardation [birth weight: 1910 g (-3.1 SDS), length: 43 cm (-3.2 SDS), head circumference: 32 cm (-1.7 SDS)] and presented with nonketotic hyperglycemia and undetectable [joplink.net]
Entire Body System
- Weight Gain
gain No evidence for an association between genetic polymorphisms of beta(2)- and beta(3)-adrenergic receptor genes with body mass index in Aymara natives from Chile Prevalence of Type II diabetes mellitus and insulin resistance in parents of women with [investigadores.conicyt.cl]
Options for Treatment and Management Early insulin administration is acutely required in most infants with newly diagnosed diabetes to treat or prevent acute metabolic decompensation and to allow weight gain [68]. [karger.com]
- Pathologist
However, these rare etiologies have not been well recognized by pediatricians and pathologists in China. [ojrd.biomedcentral.com]
- Sepsis
He underwent 7 episodes of sepsis from Nov 2017 to Aug 2018. Because a dilated colon was detected by barium enema and a diagnosis of recurrent gut-origin sepsis was considered, a terminal ileostomy was performed to rest the colon. [ojrd.biomedcentral.com]
Eyes
- Photophobia
Some cases of CTE have been associated with multiple arthritis [20, 35] or malformations, including photophobia, keratitis, cataracts, choanal atresia [36], and cardiomyopathy [37]. [ojrd.biomedcentral.com]
Psychiatrical
- Hunger
[…] the diagnosis of insulin resistance Maternal Hypertriglyceridemia: A Link Between Maternal Overweight-Obesity and Macrosomia in Gestational Diabetes Melanocortin-4 receptor polymorphism rs17782313: Association with obesity and eating in the absence of hunger [investigadores.conicyt.cl]
Workup
Serum
- Hyponatremia
[…] presence of polyhydramnios and fetal diffuse intestinal dilation at 26 weeks’ gestation Full size image At the age of 3 months, when he was referred to our division, the patient’s laboratory tests revealed typical hypochloremic metabolic alkalosis, hyponatremia [ojrd.biomedcentral.com]
Treatment
This comprehensive, multidisciplinary center focuses on the study and treatment of chronic diarrheal disorders, including: Inflammatory bowel disease (IBD) - Crohn's, Ulcerative colitis Irritable bowel disease (IBS) Celiac Disease (CD) Short gut syndrome [people.healthsciences.ucla.edu]
Thus, early diagnosis and timely treatment are both crucial in the management of diarrhea in neonates. [wjgnet.com]
Since there is a progressive β-cell death, insulin is the only treatment currently available. [karger.com]
Study of how H. pylori are able to live in the stomach and which factors increase virulence will lead to improved treatment regimens. Dr. Marcus has been awarded grants from the NIH as a result of this work. [uclahealth.org]
Other treatments included smectite, racecadotril, hepatic protection, and PN. However, no significant improvement was achieved after a month of treatment. [ojrd.biomedcentral.com]
Prognosis
It also facilitates genetic counselling within the affected families and predicts clinical prognosis. [karger.com]
[…] population from Santiago of Chile: trends in a period of 18 years (1986-2003) Lack of association between the fatty acid binding protein 2 (FABP2) polymorphism with obesity and insulin resistance in two aboriginal populations from Chile Does weight loss prognosis [investigadores.anid.cl]
Early diagnosis based on genetic analysis is essential to get better prognosis, leading to improved treatment. Future research should explore the functional effects of the novel mutations identified in this study. [ojrd.biomedcentral.com]
Etiology
The etiology of diarrhea was identified in 29 of 39 patients (74.3%) (Table 1). Table 1 Etiology of diarrhea in the study population. [wjgnet.com]
[…] diarrhea Congenital Enteropathy - Microvillus inclusion disease, Tufting enteropathy, others Malabsorptive diarrhea - Enteric Anendocrinosis, Glucose/galactose malabsorption (GGM), Lactase deficiency, Sucrase-isomaltase deficiency Diarrhea of unknown etiology [people.healthsciences.ucla.edu]
In this study, we employed WES to clarify the etiologies of all four cases. [ojrd.biomedcentral.com]
[…] levels in Aymara natives from Chile Relationship between leptin and insulin blood levels in obese and lean Chilean women Apolipoprotein E polymorphism in elderly Chilean people with Alzheimer's disease Applicability of the case-parent design in the etiological [investigadores.conicyt.cl]
Epidemiology
Inheritance, epidemiology and pathological mechanisms of the defects of enteroendocrine cells differentiation. Table 3. Inheritance, epidemiology and pathological mechanisms of the defects of enteroendocrine cells differentiation. [mdpi.com]
Clinical and epidemiologic studies defining severity and etiology are needed in order to improve diagnostic and therapeutic approaches for neonatal diarrhea. [wjgnet.com]
Cells Assessment of the Role of Metabolic Determinants on the Relationship between Insulin Sensitivity and Secretion Development and assessment of the disposition index based on the oral glucose tolerance test in subjects with different glycaemic status Epidemiological [investigadores.conicyt.cl]
Insulin Sensitivity and Secretion Development and assessment of the disposition index based on the oral glucose tolerance test in subjects with different glycaemic status Effect of Human Myotubes-Derived Media on Glucose-Stimulated Insulin Secretion Epidemiological [investigadores.anid.cl]
Pathophysiology
The pathophysiology of these conditions is extremely variable and requires a complex diagnostic work up in order to rapidly adopt adequate therapy. [wjgnet.com]
However, the enormous amount of novel information gathered since the publication of the human genome a decade ago has increased our understanding of the pathophysiology of this rare condition and had a huge impact on routine clinical care for diabetic [karger.com]
Prevention
This study will help neonatologists to prevent diarrhea from becoming a severe clinical condition. [wjgnet.com]
Association of the melanocortin 4 receptor gene rs17782313 polymorphism with rewarding value of food and eating behavior in Chilean children Guide for Current Nutrigenetic, Nutrigenomic, and Nutriepigenetic Approaches for Precision Nutrition Involving the Prevention [investigadores.anid.cl]
Extra-slowly-absorbed complex carbohydrates such as corn starch may be given at bedtime to prevent nocturnal hypoglycaemia. [karger.com]
[…] ingesta de alimentos y la actividad física Fluoxetine Impairs Insulin Secretion without Modifying Extracellular Serotonin Levels in MIN6 beta-cells Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis Preventive [investigadores.conicyt.cl]
In the vast majority of cases appropriate therapy must be started immediately to prevent dehydration and long term, and sometimes life-threatening, complications [2]. [mdpi.com]