Presentation
[…] characterized mainly by transient neonatal cholestatic jaundice and non alcoholic liver steatosis with hypertriglyceridemia; and (7) Renal and immune presentations. [hal-enpc.archives-ouvertes.fr]
At present, there are no FDA-approved therapies for the treatment of NAFLD. [clinicalgate.com]
A recent survey of newly presenting non-type 1 diabetes in children < 16 years of age in the UK revealed 17 cases of MODY, giving an incidence of 0.13/100,000 patient-years. [diabetesincontrol.com]
[…] as a subcutaneous lump diagnosed by fine needle aspiration p. 614 [HTML Full text] [PDF] [Mobile Full text] [EPub] [PubMed] [Sword Plugin for Repository] Beta Aneurysmal cyst of soft tissue of the diaphragm presenting as posterior mediastinal mass p. [ijpmonline.org]
Primarily, when the patient presents an inflammatory state, SMOFlipid® is used. [nutritionj.biomedcentral.com]
Immune System
- Splenomegaly
Subclinical abnormal liver function tests Abnormality of the digestive system Hepatic fibrosis Hepatic steatosis Hepatomegaly Splenomegaly Subclinical ... ... [familydiagnosis.com]
Affiliated tissues include liver, and related phenotypes are splenomegaly and hepatomegaly UniProtKB/Swiss-Prot : 75 Hypertriglyceridemia, transient infantile: An autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia [malacards.org]
[…] known as dyslipoproteinemic corneal dystrophy, alpha-lecithin:cholesterol acyltransferase deficiency, alpha-lcat deficiency, lcata deficiency;fed; partial lcat deficiency Related symptoms: Autosomal recessive inheritance Visual impairment Hepatomegaly Splenomegaly [mendelian.co]
[…] of the liver and overloading syndrome ( focal seizures, fever, leukocytosis, hepatomegaly, splenomegaly and shock ). [rxlist.com]
Entire Body System
- Short Stature
Diseases related with Short stature and Hepatic steatosis In the following list you will find some of the most common rare diseases related to Short stature and Hepatic steatosis that can help you solving undiagnosed cases. [mendelian.co]
stature- developmental delay syndrome 3 Cases 868 Triose phosphate-isomerase deficiency 50 Cases 2950 Triphalangeal thumb- polysyndactyly syndrome 15 Families 2947 Triphalangeal thumbs- brachyectrodactyly syndrome 4 Families 869 Triple A syndrome 100 [azkurs.org]
Gastrointestinal
- Increased Appetite
[…] hyponatremia, weight gain/loss Oral Formulations: Common (1% to 10%): Decreased appetite, increased appetite, weight decreased, weight increased Uncommon (0.1% to 1%): Anorexia, blood glucose increased, carbohydrate tolerance decreased, blood insulin [drugs.com]
Liver, Gall & Pancreas
- Hepatomegaly
The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. [malacards.org]
Splenomegaly Subclinical abnormal liver function tests Abnormality of the digestive system Hepatic fibrosis Hepatic steatosis Hepatomegaly Splenomegaly Subclinical ... ... [familydiagnosis.com]
(PMID: 2398890) Gwynn B … Birkenmeier EH (Molecular and cellular biology 1990) 3 4 22 60 A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. [genecards.org]
- Liver Fibrosis
A combination of the pediatric NAFLD fibrosis index and enhanced liver fibrosis test identifies children with fibrosis. Clin Gastroenterol Hepatol 2011; 9: 150-5. 39. Kleiner DE, Brunt EM, Van Natta M, Behling C, Contos MJ, Cummings OW et al. [degruyter.com]
[…] death, or related liver inflammation and fibrosis. [clinicalgate.com]
The reason we want to recognize ongoing liver damage as soon as possible is so that, hopefully, we can prescribe treatment to prevent damage from preceding from mild liver damage –> liver fibrosis –> cirrhosis –> portal hypertension –> the complications [tomwademd.net]
Liver fibrosis and cirrhosis is a major confounder of HCC incidence and mortality. 33 However, it could not be quantified without transient elastography, magnetic resonance imaging, or liver biopsy in these health screening units. [journals.lww.com]
- Liver Dysfunction
Liver function tests should be performed in patients in whom symptoms of possible liver dysfunction, such as nausea, vomiting and/or anorexia, develop during Clozaril therapy. [medicines.ie]
If liver dysfunction progresses despite using a balanced PN formula, the practitioner may consider further reduction of IVLE. [nursingcenter.com]
Liver dysfunction associated with artificial nutrition in critically ill patients. Crit Care. 2007;11:R10. View Article Google Scholar Vanek VW, Seidner DL, Allen P, Bistrian B, Collier S, Gura K, et al. [nutritionj.biomedcentral.com]
Eyes
- Blurred Vision
vision, diplopia, eye pain, oculogyric crisis Frequency not reported : Allergic conjunctivitis, eye irritation, eyelid ptosis, hordeolum Immediate-Release IM Injection: Common (1% to 10%): Blurred vision Uncommon (0.1% to 1%): Diplopia Frequency not [drugs.com]
Neurologic
- Dysarthria
25%), sedation (up to 21%), tremor (up to 11.8%) Common (1% to 10%): Coordination abnormal, disturbance in attention, dizziness, drooling, dystonia, lethargy Uncommon (0.1% to 1%): Akinesia, bradykinesia, cerebrovascular accident, cogwheel rigidity, dysarthria [drugs.com]
Workup
In addition to aminotransferase levels and other liver function studies, the workup of such patients should include the following assays: Serum antinuclear antibody (ANA) Anti–smooth muscle antibody (ASMA) Liver-kidney microsomal type 1 (LKM-1) antibody [tomwademd.net]
NAFLD may also be diagnosed during the workup of vague right upper quadrant abdominal pain, hepatomegaly, or an abnormal-appearing liver at time of abdominal surgery. Obesity is present in 50–90% of subjects. [clinicalgate.com]
Many herbals are associated with hepatotoxicity, but, in particular, the supplements valerian root, comfrey, and Chinese herbs are problematic. 62 rurtheF workup includes obtaining a liver ultrasound, viral serology, and, possibly, liver biopsy. 62 Because [nursingcenter.com]
Serum
- Hypertriglyceridemia
The long-term outcome of affected individuals is unclear (summary by Basel-Vanagaite et al., 2012). (614480) MalaCards based summary : Hypertriglyceridemia, Transient Infantile, also known as hypertriglyceridemia, is related to hypertriglyceridemia, familial [malacards.org]
More Symptoms of Hypertriglyceridemia, transient infantile » • • • Back to: « Hypertriglyceridemia Causes See also causal information: Causes of Hypertriglyceridemia • • • Note: This site is for informational purposes only and is not medical advice. [familydiagnosis.com]
transient infantile (HTGTI) [MIM:614480]: An autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. [genecards.org]
TRANSIENT INFANTILE; HTGTI Transient infantile hypertriglyceridemia is an autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. [mendelian.co]
- Liver Function Tests Abnormal
Splenomegaly Subclinical abnormal liver function tests Abnormality of the digestive system Hepatic fibrosis Hepatic steatosis Hepatomegaly Splenomegaly Subclinical ... ... [familydiagnosis.com]
Significant liver function tests abnormalities related to parenteral nutrition and its association with mortality. Nutr Hosp. 2011;26:243. [nutritionj.biomedcentral.com]
Rhythm
- Torsades De Pointes
de pointes, venous thromboembolism, ventricular arrhythmia Oral Formulations: Common (1% to 10%): Chest pain, hypertension, peripheral edema Uncommon (0.1% to 1%): Angina pectoris, atrial fibrillation, atrioventricular block, bradycardia, cardiopulmonary [drugs.com]
Other Pathologies
- Hepatic Necrosis
necrosis Myoglobinuria Hyperammonemia Mildly elevated creatine phosphokinase Prolonged QT interval Proportionate short stature Acute hepatic failure Neonatal hypoglycemia Hyperinsulinemic hypoglycemia Elevated circulating luteinizing hormone level Decreased [mendelian.co]
Treatment
Patients with risk factors for diabetes mellitus (e.g. obesity, family history of diabetes) who are starting treatment with atypical antipsychotics should undergo fasting blood glucose testing at the beginning of treatment and periodically during treatment [medicines.ie]
The patients on treatment differed, significantly, from placebo treated patients by the third week. Three patients were seizure free by 4 weeks. [rainbow.coop]
TREATMENT OF NAFLD Treatment of NAFLD can be divided into three components: (1) specific therapy of NAFLD-related liver disease; (2) treatment of NAFLD-associated comorbidities; and (3) treatment of the complications of advanced NAFLD. [clinicalgate.com]
In the Xu study [ 13 ], patients developed PNALD after 2–19 months of treatment with PN. [nutritionj.biomedcentral.com]
Prognosis
The presence of ascites, variceal hemorrhage, deep encephalopathy, or hepatorenal syndrome predicts a dismal prognosis. The pathologic stage of the injury can be helpful in predicting prognosis. [clinicalgate.com]
Imaging from emedicine.medscape.com (15) Hepatocellular Carcinoma from emedicine.medscape.com (16) Acute Liver Failure from emedicine.medscape.com (17) EASL-ALEH Clinical Practice Guidelines: Non-invasive tests for evaluation of liver disease severity and prognosis [tomwademd.net]
The prognosis is very poor; insulin treatment is usual. Neonatal diabetes Permanent neonatal diabetes (PNDM) is caused by a mutation in the gene coding the Kir 6.2 and SUR1 sub units of the KATP channel on the β cell. [diabetesincontrol.com]
Long term prognosis of fatty liver: Risk of chronic liver disease and death. Gut 2004; 53: 750-5. 37. Schwimmer JB, McGreal N, Deutsch R et al. Influence of gender, race, and ethnicity on suspected fatty liver in obese adolescents. [degruyter.com]
[…] preoperative PN has been shown to benefit severely malnourished patients, whereas well-nourished individuals gain no advantage by delaying surgery for nutritional support. 7 Additional factors such as vascular access, the potential for clinical benefit, prognosis [nursingcenter.com]
Etiology
Eliciting all over-the-counter and prescription medications and stopping any potentially contributing agents may identify the etiology (Table 3).13. [tomwademd.net]
Genetic and Environmental Factors in TG Elevation Both genetic and environmental contributions are implicated in the etiology of HTG. [diabetes.diabetesjournals.org]
The exact etiology is unknown and is likely multifactorial. [rxlist.com]
The complications of cirrhosis are basically the same regardless of the etiology. [clinicalgate.com]
Mechanisms of disease: update on the molecular etiology and fundamentals of parenteral nutrition associated cholestasis. Nat Clin Pract Gastroenterol Hepatol. 2007;4:277–87. [nutritionj.biomedcentral.com]
Epidemiology
"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]
An epidemiological ultrasonographic survey. Dig Dis Sci 1995; 40: 2002-9. 17. Mosley JW, Huang W, Stram DO, et al. [degruyter.com]
Understanding the basic disease processes that cause mildly elevated liver transaminase levels (i.e., less than five times the upper limit of normal) and the epidemiology of each disease can help guide the patient history, physical examination, and further [tomwademd.net]
Genetic determinance and epidemiology of cystic fibrosis-related diabetes: results from a British cohort of children and adults. Diabetes Care 2008; 31: 1789 – 1794. American Diabetes Association. Diagnosis and classification of diabetes mellitus. [diabetesincontrol.com]
The atherogenicity of the atherogenic dyslipidemia complex is supported by epidemiological studies. [diabetes.diabetesjournals.org]
Pathophysiology
We briefly review the underlying pathophysiology of this form of dyslipidemia, in particular its association with insulin resistance, obesity, and type 2 diabetes, and the marked atherogenicity of this condition. [diabetes.diabetesjournals.org]
Mathematical Modeling and Pathophysiologic Implications We used a modified minimal mathematical model 5 to assess the effect of the M210K and T228M mutations on the glucose-stimulated rate of insulin secretion and glucose homeostasis ( Figure 3 ). [nejm.org]
The resulting fibrosis from continuing alcohol use determines the architectural derangement of the liver and associated pathophysiology. PATHOLOGY The liver has a limited repertoire in response to injury. [clinicalgate.com]
Prevention
Guidelines for the prevention of intravascular catheter-related infections, 2011. Centers for Disease Control and Prevention. http://www.cdc.gov/.icpac/pdf/guidelines/bsi-guidelines-2011.pdf. [Context Link] 43. Wanten GJA, Calder PC. [nursingcenter.com]
[…] most aspects of the atherogenic dyslipidemia complex, thereby preventing CVD events. [diabetes.diabetesjournals.org]
Your doctor may give you other medicines to help prevent your gout flares. Liver Problems. Liver problems can happen in people who take ULORIC. [uloric.com]
Prescribers are encouraged to keep a record of all patients' blood results and to take any steps necessary to prevent the patient being accidentally rechallenged in the future. [medicines.ie]
We suggest clinicians should promote diabetes prevention and never smoking to associate with reduced subsequent HCC mortality even in adults without chronic viral hepatitis. [journals.lww.com]