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Results for “DEFICIENCY DISEASES”

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PubMed1989

[Biotidinase deficiency: a disease with neurologic and cutaneous expression susceptible to biotin].

The authors report 2 familial cases of biotin deficiency. The first neurological signs appeared at the age of 2 years in a boy. The diagnosis was established in his sister in the neonatal period. A review of 41 published cases summarizes the neurologic signs (seizures, ataxia, hypotonia and later, developmental delay and deafness) and the cutaneous signs (rash, alopecia). An early treatment with biotin cures or prevents the clinical signs of the disease in most cases.

Amidohydrolases↗
PubMed1976

Myophosphorylase deficiency (McArdle's disease): report of a family.

The clinical and biochemical findings are presented of two brothers suffering from McArdle's Disease (Myophosphorylase Deficiency). Tissue enzyme estimations and lactate levels were done in affected and non-affected members of the family. Affected members showed absence of phosphorylase enzyme by histochemical and quantitative estimation. No quantitative abnormalities were found in other enzyme systems of glycolytic pathways in the family investigated. Various other aspects of clinical features, biochemical abnormalities and inheritance are discussed.

Adult↗
PubMed2002

Subperiosteal orbital hemorrhage as initial manifestation of Christmas disease (factor IX deficiency).

PURPOSE: To report a case of subperiosteal orbital and subgaleal hemorrhage with optic nerve compromise in a patient with a factor IX deficiency. DESIGN: Interventional case report. METHODS: A 5-year-old male presented 10 days after mild trauma with progressive left-sided scalp swelling, proptosis, and visual loss. RESULTS: The patient had marked proptosis of the left eye, 20/200 visual acuity, and an afferent pupillary defect. Magnetic resonance imaging demonstrated a large subgaleal and left subperiosteal orbital hematoma. Quantitative assays of coagulation proteins identified a factor IX deficiency (Christmas disease). CONCLUSION: Delayed-onset subgaleal and subperiosteal orbital hematoma can rarely be an initial manifestation of Christmas disease.

Child, Preschool↗
PubMed1990

Pulmonary microcirculatory kinetics of neutrophils deficient in leukocyte adhesion-promoting glycoproteins.

The mechanism that causes neutrophils to sequester in the pulmonary circulation is unknown. Because the CD11/CD18 glycoprotein family on the surface membrane of neutrophils participates in many adhesive interactions with the endothelium, we investigated the role of these proteins in the intravascular sequestration of pulmonary neutrophils. Neutrophils were isolated from normal dogs and from the only living dog known to have leukocyte adhesion deficiency disease, an inherited deficiency of the CD11/CD18 adhesion family. The neutrophils were labeled with fluorescein dye, injected into normal recipient dogs, and their passage through the pulmonary microcirculation was recorded by in vivo videofluorescence microscopy through a transparent thoracic window. Transit times for normal and deficient neutrophils were similar over a wide range of hemo-dynamic conditions. Activation by zymosan-activated plasma, which increases the surface membrane expression of CD11/CD18, prolonged the transit of normal neutrophils but did not alter the transit time of the deficient neutrophils. These results indicate that neutrophil CD11/CD18 adhesion-promoting glycoproteins are not involved in the normal pulmonary sequestration of neutrophils but have a significant role in the arrest of activated neutrophils in the pulmonary capillaries.

Animals↗
PubMed2002

Prevalence of micronutrient deficiency based on results obtained from the national pilot program on control of micronutrient malnutrition.

Micronutrient deficiency is a serious public health concern in most developing countries. In India, iron deficiency, vitamin A deficiency, and iodine deficiency disorder are of greatest public health significance. In addition, subclinical zinc deficiency, flourosis, and fluoride-deficient dental caries are important areas of concern. The National Pilot Program on Control of Micronutrient Malnutrition was launched in 1995 to address these problems and the Department of Biochemistry and Nutrition of the All India Institute of Hygiene and Public Health (Calcutta) was entrusted to coordinate its activities. The program presently covers one northeastern and four eastern states, namely Assam, Bihar (Jharkhand), Orissa, West Bengal, and Tripura. Baseline analyses were conducted on demographic situation, food and nutrient intake pattern, nutritional deficiency diseases (e.g., iron deficiency anemia), iodine deficiency disorder, and vitamin A deficiency. It was observed that except for cereals, the diet was deficient in all other food groups. Nutrient intake (i.e., energy, protein, vitamins, and minerals) was also deficient in almost the entire state. Anthropometric indices (e.g., weight-for-age and height-for-age data) indicated that large percentages of <5-year-old and 6-14-year-old children were in grade II or III malnutrition. Mean dietary zinc intakes in all the surveyed districts were much lower than the RDA. Large percentages of salt samples had iodine levels less than 15 ppm. The point prevalence of anemia in various age groups was found to be high. Bitot's spot was mainly noted in the age group of 6-71 months. Nightblindness was noted in young children as well as the children 24-71 months old. High prevalence of nightblindness in pregnant women is a point of concern. Actions needed to control micronutrient deficiencies include: intervention strategies, extensive nutrition and health education through innovative IEC materials to support problem-specific programs, strengthening of various state government programs and the role of NGOs.

Adolescent↗
PubMed1985

Changes in health conditions in the Huainan coal mine in the past three decades.

Health conditions in the Huainan Coal Mine have improved greatly since 1950. In particular, the work and living environments, the underground dust concentration, the water supply and waste disposal systems, and the nutritional value of miners' food have become much better. Thus the rates of occupational, infectious, and parasitic diseases and nutritional deficiency diseases have decreased considerably among miners. The decreases in the prevalence of anthracosilicosis and hookworm have been especially striking.

Anthracosilicosis↗
PubMed1978

[Behaviour of the sella turcica in juveniles with severe iron deficiency (author's transl)].

In juvenile patients with a severe and longstanding iron deficiency disease several abnormal features such as delayed growth, retarded development and maturation are displayed. The roentgenological examination of the sella turcica in 81 patients and the determination of the sellar size in 73 cases, including 40 men and 33 women, by employing the method of Haas with a slight modification and the following comparison of the results with the values obtained by this author in normal individuals of the same sex and age revealed that in the iron deficient patients the sellar area is considerably reduced. In addition, it could be shown that in the patients the normal augmentation of the size with the advancing age is likewise diminished and comes to an early standstill. It could be, moreover, demonstrated that in men the sellar size and growth are more reduced than in women and that the difference in the patients is much larger than the difference existing normally between both sexes. The reduced size of the sella turcica in the patients indicated that the pituitary gland placed in the sellar cavity is likewise diminished and that the activity of the gland, as far as the function is related to the volume, is equally decreased. This assumption is in good keeping with the clinical findings in the patients being attributed to a low and failing hormonal activity. The close relation between volume and function of the pituitary gland, is proved by the observation made in the patients after the administration of iron showing that the size of the sella is considerably augmented during a relatively short space of time and that at the same time a definite amelioration of clinical symptoms occurs. Thus the X-ray examination of the sella turcica and the determination of its area is a suitable method for a comparative investigation of the size and function of the pituitary gland. It offers a valuable tool for studying the disorders of growth, development and maturation in juvenile patients with a severe and longstanding iron deficiency disease and for investigating the relation of these clinical features to the pituitary function.

Adolescent↗
PubMed2001

In vivo microdialysis in an animal model of neurological disease: thiamine deficiency (Wernicke) encephalopathy.

In vivo microdialysis allows for the constant monitoring of brain neurotransmitters in the extracellular fluid of awake and freely moving animals. Considerations including factors affecting probe recoveries, the blood-brain barrier, and tissue reactions to probe implantation are discussed in this paper. Details of the application of in vivo microdialysis to an animal model of encephalopathy are then presented. Thiamine deficiency encephalopathy is an animal model of Wernicke encephalopathy, a neurological disorder observed in alcoholics and in patients with severely compromised nutrition. Regionally selective neuronal cell death is observed in both patients and animals with thiamine deficiency (TD). Various thalamic nuclei suffer significant TD-induced cell death, and NMDA receptor-mediated glutamate excitotoxicity has been proposed as an underlying causative factor. A detailed methodology for the examination of the role of glutamate excitotoxicity using in vivo microdialysis in the neuronal cell death due to thiamine deficiency is presented.

Animals↗
PubMed2007

Acid alpha-glucosidase deficiency (Pompe disease).

The development and recent approval of recombinant acid alpha-glucosidase for enzyme replacement therapy have been major milestones in Pompe disease research. Acid alpha-glucosidase is the enzyme responsible for degradation of glycogen polymers to glucose in the acidic milieu of the lysosomes. Cardiac and skeletal muscles are the two major tissues affected by the accumulation of glycogen within the lysosomes. Both cardiomyopathy and skeletal muscle myopathy are observed in patients with complete enzyme deficiency; this form of the disease is fatal within the first year of life. Skeletal muscle myopathy eventually leading to respiratory insufficiency is the predominant manifestation of partial enzyme deficiency. The recombinant enzyme alglucosidase alfa is the first drug ever approved for this devastating disorder. This review discusses the benefits and the shortcomings of the new therapy.

Animals↗
PubMed1996

Normal glutamate metabolism in Alzheimer's disease fibroblasts deficient in alpha-ketoglutarate dehydrogenase complex activity.

Deficient activity of the alpha-ketoglutarate dehydrogenase complex (KGDHC) has been documented in Alzheimer disease (AD) brain and fibroblasts. We examined glutamate metabolism in intact AD fibroblasts previously shown to have reduced KGDHC activity to determine whether this enzyme deficiency leads to a metabolic deficit in extraneural tissues. After exposure to [13N]ammonia for 5 min, the ratio of [13N]glutamate to [13N]aspartate and the ratio of unlabeled glutamate to aspartate were comparable in AD and control fibroblasts. The ratio of [13N]glutamate/[13N]glutamine was 3.7 +/- 1.8 in AD and 6.8 +/- 2.8 in control cells, but the difference was not statistically significant. Unlabeled glutamate/glutamine ratios were similar in the AD and control cells. The rate of conversion of alpha-keto[1-14C]glutarate to 14CO2 was slightly but not statistically significantly less in the AD than in the control cells. The similarity in levels of glutamate and other amino acids in intact AD and control cells may be due in part to the high glutamate and glutamine content of the culture medium used. The similar incorporation of label derived from [13N]ammonia into glutamate/aspartate and the similar levels of alpha-ketoglutarate in AD and control cells may be due in part to the fact that KGDHC is not the rate-limiting enzyme for the tricarboxylic acid cycle in fibroblasts, although it does appear to be rate-limiting in brain. Cultured cells are established tools for identifying genetic and molecular defects in the host, but the studies above show the limitations in using them as a model of brain cell metabolism.

Alzheimer Disease↗