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Biomedical subjects

I Amirlak

Publications and source records attributed to I Amirlak.

8 recordsLinked to original sources
PubMed2001

Diet, clothing, sunshine exposure and micronutrient status of Arab infants and young children.

Vitamin C and D levels in Arab women and their newborn infants have been shown to be low. We investigated the prevalence of and risk factors for possible hypovitaminosis C and D in a convenience sample of 51 hospitalized children without clinical features of vitamin C or D deficiency. The mean age was 15.4 months. The serum vitamin C concentration was low in the mothers but normal in the children. Both mothers and children had low serum 25-hydroxyvitamin D (25-OHD) concentrations. Fifty per cent of the mothers and 22% of the infants and children had hypovitaminosis D (serum 25-OHD level < 25 nmol/l). Infants who received dietary vitamin D supplementation had a higher mean (SD) serum 25-OHD concentration than the unsupplemented group (62.5 (29.8) vs 38.5 (27.3), p = 001). Cutaneous light exposure in these children was poor. The children's serum 25-OHD concentration correlated with dietary vitamin D supplementation and maternal serum 25-OHD levels. The results suggest normal vitamin C status but a possible high prevalence of hypovitaminosis D in Arab children and their mothers in UAE. Health education to encourage greater sunshine exposure and improvement in maternal vitamin D stores and the availability of adequate vitamin D supplements would improve children's vitamin D status. The study indicates that hypovitaminosis D continues to be an important maternal and child health problem, despite the abundant sunshine.

Ascorbic Acid↗
PubMed2000

Hypernatraemia in early infancy.

Hypernatraemia, defined as serum sodium > 150 mmol/l, is still seen frequently in tropical environments. We describe two infants, one with poor fluid intake and excessive wrapping and the other with a high solute intake, both of whom presented in a state of severe hypernatraemia. The pathophysiology of this condition is outlined, as are the major causes, such as sodium overload, inadequate water intake, increased water loss of non-renal origin, increased water loss of renal origin and essential hypernatraemia. The literature is reviewed and the current basis for management is appraised and discussed.

Dehydration↗
PubMed2000

Bartter syndrome: an overview.

The term Bartter syndrome denotes a group of renal diseases which share a common denominator of hypokalaemia and metabolic alkalosis. The patch-clamp technique has made possible the analysis of single ion channels, improving our understanding of the molecular physiopathology of all the 'Bartter-like' syndromes. Genetic mapping of each defect has further clarified the mutations involved and the possible modes of inheritance. This improved understanding has opened new avenues for therapy, improving mortality and morbidity in these patients. Another group of illnesses, the 'pseudo-Bartter syndrome', may produce a hypokalaemic metabolic alkalosis without primary renal disease. The underlying illness needs to be identified and treated.

Bartter Syndrome↗
PubMed2000

A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex.

Renal-coloboma syndrome is a developmental disorder involving optic nerve colobomas and renal hypoplasia/insufficiency, which exhibits autosomal dominant inheritance and a highly variable phenotype (OMIM:120330). Mutation in the PAX2 gene was found to result in the renal-coloboma phenotype. We report on an Arab family with autosomal dominant inheritance of a syndrome characterized by a variable combination of optic nerve colobomas, renal abnormalities, vesicoureteral reflux, lax joints and arthrogryposis multiplex. Apart from the arthrogryposis multiplex which has not been described in the renal-coloboma syndrome, the features of the syndrome in this family are very similar to the renal-coloboma syndrome. However sequencing of all 12 axons of PAX2 gene revealed no mutation in this family. The disorder in this family is likely to represent a new syndrome with features overlapping with the renal-coloboma syndrome.

Abnormalities, Multiple↗
PubMed1999

A syndrome of immune complex glomerulonephritis and ophthalmic abnormalities.

Two sibs (one male and one female) suffering from a combination of immune complex glomerulonephritis and various ophthalmologic disorders are presented. The two cases belong to a family in which the parents are not related and seven sibs are affected, three females and a male with the combination, and three males with severe ophthalmological changes and proteinuria. Clinically, case 2 had only ophthalmological manifestations but renal biopsy findings were similar to those of case 1, which could mean that all the others with eye abnormalities also had renal disease. Although there are several reports of combinations of eye and renal disorders, the sibs reported here do not fit into any of the known syndromes.

Abnormalities, Multiple↗