Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Transient erythrocytosis during the neonatal period may result in serious complications. Among the well recognized problems are respiratory distress, acute heart failure, and death. Little attention has been ascribed to the neurologic complications of a high hematocrit level in the neonatal period. This report describes four pediatric patients with neurologic deficits presumably due to transiently high hematocrit levels during the neonatal period. The neurologic findings in these patients were consistent with the general diagnosis of cerebral palsy. We hypothesize that they may be representative of a group of patients with seizures, structural central nervous system defects, and/or mental retardation secondary to transient erythrocytosis. Moreover, prompt recognition and treatment of this hematologic finding may prevent the immediate or late appearance of such neurologic findings.
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PMID:Transient erythrocytosis during the neonatal period: possible neurologic compications. 45 51

In recent years, several clinical and biochemical studies have been published contributing to better understanding of mucopolysaccharide storage diseases. Our purpose, therefore, is, to give an updated survey of this group of lysosomal diseases for diagnostic orientation to the pathologist. The present classification of mucopolysaccharidoses is based on a mixture of clinical symptoms, demonstration of enzyme defects, analysis of urinary excretion of glycosaminoglycans (mucopolysaccharides) and historical eponyms. A broad heterogeneity has been revealed: identical enzyme defects may lead to severe mental and physical deterioration and death during childhood or to mild forms with normal adult height, intelligence, and life expectancy. Conversely, identical phenotypes may result from mutations of different genes. Various types of mucopolysaccharidoses are mostly characterized by quantitative differences of main symptoms (coarse facial features, various skeletal abnormalities, hepatosplenomegaly, corneal clouding, mental retardation, and cardiac failure). Morphologically, storage material can be observed practically in all tissues by light and/or electron microscopy. Until recently, no more than palliative treatment could be offered. In the last decade, bone marrow transplantation has become available and may have beneficial effects in selected cases. The genes of several lysosomal enzymes have been identified, and comprehensive studies to introduce the gene into defective cells are currently undertaken. However, substantial efforts are still necessary until gene transfer will become available for patients with mucopolysaccharidoses.
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PMID:[Mucopolysaccharidoses. Genetics, clinical pathology, therapeutic regimes]. 152 34

Since 1984, 43 patients with true vein of Galen aneurysmal malformations have been referred to us and managed according to our patient selection, technique, and follow-up guidelines. Thirty-four were embolized transarterially with bucrilate (isobutyl cyanoacrylate) or enbucrilate (N-butyl cyanoacrylate) embolization. No cutdown or hypotension during or after the embolization was used and no balloon catheter was employed. Forty-seven percent of the children had a completely occluded lesion which was confirmed when the child was at least 6 months of age at the follow-up angiographic examination; 52.9% were found to be completely normal or only to have mild cardiac failure that could be treated medically or moderate macrocephaly without neurological symptoms or mental retardation. In the embolized group 5.8% died as a result of the wrong treatment (1 case) or poor timing of embolization 3 days after ventricular shunting (1 case). The overall mortality (embolized and non-embolized groups) in the neonatal children was 27.7% with a total of 18.6% for all ages. Complete morphological exclusion of the arteriovenous malformation was accomplished in 41.9%; 74.4% of all children referred are now clinically normal or present moderate mental retardation which is diminishing. There was 3% neurological morbidity in the embolized group (only following the venous approach) in 78 sessions and more than 100 arteries embolized. These results compare favorably with surgical or other techniques of arterial embolization (balloon or particles), as well as transvenous (transtorcular or transfemoral) embolization, where the morbidity and mortality are significantly higher and the late clinical evaluation is seldom satisfactory.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Vein of Galen malformation. Endovascular management of 43 cases. 179 15

A case of 25-year-old woman with glycogen storage myopathy is reported here. She was hospitalized for acute heart failure after alcohol drinking. The electrocardiogram on admission showed marked ST elevation. Laboratory data showed elevated levels of serum myogenic enzymes but no rise in cardiomyogenic enzyme: CK 3862 IU/l CK-MB 35 IU/l, LDH 427 IU/l, GOT 203 IU/l. After several days, she recovered from acute heart failure and could walk without supporting. ST elevation in ECG and elevated myogenic enzymes were also normalized. The occurrence of acute myocardial infarction was ruled out because a coronary angiogram and 99 Tcm scintigram were normal. Physical examination revealed proximal muscular weakness and mental retardation (WAIS, total 72). Venous lactate response was normal after semi-ischemic forearm exercise. PAS staining of muscle specimen showed an excess deposit of glycogen. Ragged-red fibers were not seen on Gomori-trichrome stain. By electron microscopy, a large amount of glycogen particles were demonstrated in the subsarcolemma, but there were no abnormal mitochondrial changes. Biochemical analysis showed accumulation of glycogen in muscles: 28.7 mg/g muscle (normal 11.4 +/- 4.2 mg/g muscle). The activities of enzyme in the pathway of glycogen and glycogenosis (alpha-glucosidase, amylo-1,6-glucosidase, phosphorylase a, phosphorylase kinase, phosphofructokinase, etc.) were within normal limits. The spectrum of glycogen iodine complex was normal. Our case was different from any type of muscle glycogen storage disease previously reported. The etiology of an excess of glycogen deposit in muscles is unknown.
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PMID:[A case of glycogen storage myopathy with acute heart failure]. 220 34

Tuberous sclerosis (Bourneville-Pringle phacomatosis) has been known to be associated with cardiac rhabdomyoma, but apparently never previously with primary pericardial mesothelioma. We present an autopsy case of this condition in a 59-year-old man, who had been diagnosed as having tuberous sclerosis in view of the presence of facial sebaceous adenoma, mental retardation, intracranial calcification, cerebral ventricular dilatation and renal tumor. During the clinical course, characterized by heart failure due to cardiac tamponade, cardiac sarcoma was diagnosed by imaging techniques. Autopsy revealed biphasic-type primary pericardial mesothelioma. As to the tuberous sclerosis, atypical giant cells in the tubers of the cerebral cortex and the lateral ventricular wall were found, which were considered to be derived from neurons rather than glial cells on the basis of staining with Bodian, Holzer, and antibodies against NSE, GFA and S-100 protein. In old tubers protruding into the lateral ventricles, fibrous glias were present with dense calcospherite deposits, coinciding with the CT findings. The renal tumors were angiomyolipomas, which were present bilaterally and showed partially infiltrative growth, but seemed to have a benign nature because of the lack of metastasis and atypism of the leiomyocytes.
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PMID:An autopsy case of tuberous sclerosis associated with primary pericardial mesothelioma. 248 38

Fifteen children and adolescents with intracranial arteriovenous malformations are reviewed and their data analyzed; their ages varied between 1 day and 15 years and there was a slight predominance of males (9 male and 6 female patients). In this series, the arteriovenous malformations appeared clinically as cerebral hemorrhage in 9 cases, epilepsy in 3, mental retardation with epilepsy in 1, subarachnoid hemorrhage in 1, and cardiac insufficiency at birth in the other. The diagnostic procedures used were computerized transmission tomography (CTT) of the cerebrum in 14 cases, cerebral panarteriography in 15, and EEG in 4 cases. Treatment took the form of surgery, radiation therapy, or medication. The last was administered to patients with epilepsy, either as a complement to other modes of treatment or as the only treatment. In all, 4 cases died, 2 for reasons to do with their operations, 1 from a lesion of the brain stem in a hematoma of the cerebellum that had not been surgically treated, and the other from an intraventricular hemorrhage 4 months after surgery. In the last patient, necropsy revealed remnants of the arteriovenous malformation. The overall mortality was thus 26% and the surgical mortality, 12.6%. Of the 11 surviving patients only 3 received anticonvulsant drugs; each of them had a good I.Q. and good marks at school, as did the other 8 survivors.
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PMID:Intracranial arteriovenous malformations in infancy and adolescence. 270 71

The association of microcephaly, mental retardation, cataracts, and hypogonadism is described in sibs (brother and sister) of consanguineous parents. These features are consistent with a diagnosis of Martsolf's syndrome. In addition, one sib had a cardiomyopathy while the other had cardiac failure.
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PMID:Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. 273 2

Tuberous sclerosis is a neurocutaneous disease characterized of mental retardation, facial fibroangiomas, hypochromic stain and seizures. Is presented a case of a newborn that in the third day of life presenting seizures and in the physical exam show hypochromic CT scans irregular of 3-10 mm in thorax and limbs. The seizures presented during hospitalization were tonics, it was need treatment with three anticonvulsants for the control; the parents studies were normal. Magnetic resonance showed characteristic images of this pathology like nodular subependymal lesions, hyperintense, in lateral ventricles and a cortical tuberous lesion in the right frontal region. Tuberous sclerosis has a dominant autosomic transmission; the defect is in the chromosome 9, the prenatal diagnosis is not possible and 50-80% the of case are mutations. Affect a different organs as skin, eyes, heart, brain, kidney, bone and lung. The prognostic is variable and death is caused for epileptic state, brain tumor, heart failure, renal or intercurrent infection. The magnetic resonance imaging is the landmark study for diagnosis of this pathology of ample use in the present.
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PMID:[The magnetic resonance imaging of the cerebral lesions in a newborn infant with tuberous sclerosis]. 811 Apr 8

Four patients with suprarenal coarctation of the abdominal aorta were managed from 1978 to 1993 (mean follow-up 8.75 years). Ages at the time of diagnosis were 2 months, 8 months, 4.5 years, and 15 years, respectively. Three children presented with severe hypertension, two of whom were in congestive heart failure, and the fourth child presented with a cold, ischemic leg. The 8-month-old patient had Williams syndrome (supravalvular aortic and pulmonic stenosis, bilateral renal artery stenosis and celiac artery occlusion, "elfin" facies, and mental retardation) and was treated nonoperatively. After 12 years of follow-up, he was given five medications to control hypertension, cardiac arrhythmias, and heart failure. Three patients with abdominal aortic coarctation were treated operatively and none died. Two patients underwent bypass grafting from the supraceliac aorta to the infrarenal aorta, with bilateral renal artery reconstruction in one. Postoperative arteriograms obtained 1 year or more after operation were normal in both cases. The 2-month-old patient underwent patch aortoplasty, with subsequent reoperation 1.5 years later for recurrent hypertension and heart failure with a bypass graft to the left kidney and removal of an infarcted right kidney. In all three patients, operative repair of the suprarenal aortic coarctation has resulted in long-term control of blood pressure and cardiac and renal function.
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PMID:Coarctation of the abdominal aorta. 852 35

Lysosomal glycogen storage disease without acid maltase deficiency is characterized by the triad of clinical manifestations (hypertrophic cardiomyopathy), mental retardation, and mild myopathy), morphologic findings (glycogen storage, glycogenosomes, and autophagic vacuoles), and normal glycolytic enzyme activities. Though most of the patients suffering from the triad were males, family studies often revealed female patients with only cardiomyopathy. So far 27 cases have been reported. The cardiac involvement is progressive and fatal and as severe in females as in males. Many patients of both sexes die in their youth, unexpectedly, because of cardiac failure. The specific biochemical defect causing this disease remains unknown. From abnormal lectin staining patterns on the membrane and preclinical morphologic changes in biopsied skeletal muscle, membranous abnormality is suspected in this disease.
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PMID:[Lysosomal glycogen storage disease without acid maltase deficiency]. 857 57


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