Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twenty-six, ten-week-old mink were infected by force feeding by pipette 2 ml of a tissue suspension containing a Wisconsin strain of mink enteritis virus. Four days later, diarrhea and partial or complete loss of appetite developed simultaneously in all of the animals. Squinting and occasional vomiting were also observed. By the sixth day after inoculation, all of the mink were anorectic and weak. Anorexia persisted for 48 to 96 hours. Diarrhea and vomiting continued until the eighth to ninth day after exposure. For the first two days after the appearance of diarrhea, the feces contained large quantities of mucus and intestinal casts were seen frequently in the droppings. Thereafter, the feces consisted mostly of yellowish green, watery fluid and contained no casts. Some of the animals died on the eighth day after infection. Those which survived were severely dehydrated and debilitated, but resumed eating and achieved complete clinical recovery within the next five to six days.Leukopenia, i.e., total leukocyte count of less than 5,000 cells per mm(3) of blood, was found in seven of nine mink examined during the height of the disease. Leukopenic animals were deficient in both lymphocytes and neutrophils.
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PMID:Some clinical and hematological features of virus enteritis of mink. 423 66

Carbohydrate-deficient glycoprotein syndrome type 1 (CDGS-1) is an autosomal recessive hereditary metabolic disorder, the gene locus of which is chromosome 16p13. The disorder is characterised by genetic heterogeneity, and by decrease in the gene product, phosphomannomutase 2, though the heterogeneity is far less manifest in affected Swedish families. Its incidence is 1/80,000 live births, and the under-5 mortality rate over 30 per cent. The causes of death are liver failure, cardiac tamponade, haemorrhaging, and severe infection. The characteristic biochemical aberration is the occurrence of deficient carbohydrate chains in many but not all circulating glycoproteins, and the serum and blood concentrations of some glycoproteins may be above or below normal. These changes may improve over time, but never normalise. The clinical picture is generally more problematic during the first years of life when psychomotor retardation is complicated by failure to thrive, liver dysfunction, pericardial effusions, and stroke-like episodes. In addition, strabismus, lipocutaneous anomalies, and gluteal fat pads are always present, and muscular hypotonia and restricted joint mobility are common. Failure to thrive is common, with vomiting and diarrhoea and subsequent slow growth. Inflammation is a constant finding in the liver, and very common in the small bowel. Pancreatic function is also affected. Pericardial effusion has been reported in 50 per cent of the youngest children, requiring pericardectomy in 30 per cent of cases. Haemorrhaging and thromboembolic complications may occur, and the serum concentrations of several factors and inhibitors are low, particularly those of factors V and XI, protein C and antithrombin. Stroke-like episodes occur in about 30 per cent of cases, often following an infection, with coma lasting for hours to several days. Such sequelae as hemiplegia, blindness, and other focal neurological pathology have been observed transiently. Diagnosis is based on the serum carbohydrate-deficient transferrin level, verified by isoelectric focusing. Molecular genetic procedures enable point mutations to be identified and prenatal diagnosis to be performed in many families.
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PMID:[CDGS-1--a recently discovered hereditary metabolic disease. Multiple organ manifestations, incidence 1/80,000, difficult to treat]. 988 93

This study presents clinical and laboratory findings and outcome of infants with intracranial hemorrhage (ICH) due to vitamin K deficiency after the newborn period, and evaluates vitamin K prophylaxis. The hospital records of 19 infants with a diagnosis of ICH due to vitamin K deficiency after the newborn period, seen in our clinic in less than 4 years, were retrospectively evaluated. The mean age at onset of the symptoms was 49 +/- 18 days. The most frequent presenting complaints were convulsion (58%), vomiting (47%), and irritability (47%). The most frequent examination findings were coma (74%), fontanel bulging (68%), and absence of pupil reaction (42%). The localizations of the ICHs were as follows: parenchymal (47%), subarachnoid (47%), subdural (42%), and intraventricular (26%). Four patients had used antibiotics and 1 patient had suffered diarrhea before the onset of the symptoms. One patient had a mild hepatic dysfunction that resolved spontaneously in a few weeks and its cause was not found. Mortality was observed in 6 (32%) patients. Ten patients were followed up for a mean period of 26.9 +/- 22.6 months. The follow-up findings were developmental delay (40%), microcephaly (30%), epilepsy (30%), blindness (20%), strabismus (20%), spastic tetraparesis (10%), spastic hemiparesis (10%), growth retardation (10%), and hydrocephaly (10%). Three (30%) patients remained neurologically normal. Vitamin K deficiency leads to death and neurological defects. Vitamin K prophylaxis at birth is therefore a priority. In this series, hepatic dysfunction had been detected in only 1 patient. The authors speculate that additional vitamin K to breast-fed infants with liver problem, antibiotic use, diarrhea, etc., should be considered.
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PMID:Intracranial hemorrhage due to vitamin K deficiency after the newborn period. 1562 14

Early recognition and diagnosis of Wernicke encephalopathy is pivotal for the prognosis of this medical emergency, especially in patients with liver failure which predisposes individuals to develop hepatic encephalopathy. For these patients, distinguishing between hepatic encephalopathy and Wernicke encephalopathy is a challenge in real-world clinical practice.A male patient with 21-year medical history of liver cirrhosis presented diarrhea and ascites. One month before this visit, he was noted to have poor appetite and progressive fatigue. After admission, although several major symptoms, including diarrhea, ascites, hyponatremia, and hypoproteinemia, were greatly improved through appropriate treatments, his laboratory indicators were not changed much. His appetite was not reversed at discharge. On the 5th day after discharge, the patient suddenly became reluctant to speak and did not remember the recent happenings. Simultaneously, unsteady gait and strabismus occurred. On the basis of clinical manifestations and brain magnetic resonance imaging scan results, the patient was diagnosed as Wernicke encephalopathy and these relative symptoms were resolved after intravenous vitamin B1.To our knowledge, this is the second case report of Wernicke encephalopathy developing in a critically ill cirrhotic patient without hepatocellular carcinoma or operative intervention. Wernicke encephalopathy may be underdiagnosed in these patients and this case raises physicians' awareness of its possible onset.
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PMID:Wernicke encephalopathy in a patient with liver failure: Clinical case report. 2739 58

Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare mitochondrial disorder characterized by MLASA. Variable features of this condition include failure to thrive, and developmental delay or intellectual disability. Additional symptoms consist of cognitive impairment, skeletal and dental abnormalities, delayed motor milestones, cardiomyopathy, dysphagia, and respiratory insufficiency. MLASA has previously been associated with mutations in pseudouridylate synthase 1 (PUS1) and YARS2. PUS1 encodes the nuclear PUS1 enzyme, which is located in both the nucleus and the mitochondria. PUS1 converts uridine into pseudouridine in several cytosolic and mitochondrial transfer RNA positions and increases the efficiency of protein synthesis in both compartments.In the present report, we report on 2 Turkish sisters 4 and 11 of years with an MLASA plus phenotype. Both patients have sideroblastic anemia, lactic acidosis, failure to thrive, developmental delay, and chronic diarrhea; in addition, the older sister has strabismus and skeletal anomalies. The sequencing of the PUS1 gene revealed a novel homozygous p.Glu311* mutation. The phenotype of the older sibling is also unique because of the strabismus and skeletal anomalies, when compared with her sister and other previously reported patients with MLASA. The structural differences in the nuclear versus mitochondrial isoforms of PUS1 and modifier genes may be implicated in the variability of the clinical presentations in MLASA. CONCLUSION:: This report adds to the growing number of mutations causing complex clinical manifestations of MLASA including lactic acidosis, sideroblastic anemia, chronic diarrhea, and myopathy.
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PMID:A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature. 3228 5