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Biomedical subjects

A Jenkin

Publications and source records attributed to A Jenkin.

4 recordsLinked to original sources
PubMed2004

Association between aminolevulinate dehydrase genotypes and blood lead levels in children from a lead-contaminated area in Antofagasta, Chile.

Childhood environmental lead exposure in the city of Antofagasta, Chile, was generated by the accumulation of recently removed lead stores derived from mining activities for a long period of time. Susceptibility to harmful lead effects may be associated with polymorphisms of delta-aminolevulinic acid dehydratase (ALAD) because of the differential binding of lead to the codified proteins. We assessed the associations and possible interactions among the following variables: blood lead levels, ALAD genotypes, and distance to the source of lead contamination in Chilean children exposed to lead contamination in Antofagasta, Chile. Ninety-three children were recruited from schools located near a lead- contaminated area. Lead blood levels were measured by atomic absorption spectrophotometry. ALAD genotypes were determined by polymerase chain reaction and restriction fragment-length polymorphism analysis. The frequency of the ALAD-2 allele was estimated at 0.054. Children with the ALAD-2 genotype had higher blood lead levels than noncarriers (p = 0.06). As expected, blood lead levels were inversely correlated with the distance from lead stores. Interestingly, ALAD-2 carriers were more frequent within the area defined by a distance of 200 m from lead deposits (27%) than in areas >200 m (5%) away. Children living within a maximum distance of 200 m from the lead stores showed higher blood lead levels in ALAD-2 carriers (geometric mean = 16.4 microg/dl, range 6 to 27) than in noncarriers (geometric mean = 12.1 microg/dl, range 0 to 26) without achieving statistical significance (p = 0.13). A trend for higher blood lead levels in ALAD-2 carriers compared with ALAD-1 homozygous children has been observed. Because ALAD-2 frequency was higher in subjects living within 200 m from the lead deposits, we hypothesized that a long-term selective pressure against the presence of the ALAD-1 allele is the cause of the overrepresentation of the ALAD-2 allele in children living in proximity to the recently removed lead stores.

Child↗
PubMed2000

A case of primary amenorrhea, diabetes and anosmia.

This case details a patient with primary amenorrhea with an unusual cause. She presented at age 16 with short stature, minimal sexual development and no prior menses. Her history was significant for poorly controlled type 1 diabetes. She had been evaluated previously for growth hormone deficiency, and had received a short course of growth hormone therapy. Of greatest significance was the fact that she had also had a decreased sense of smell since her youth. Although a previous computerized tomography scan had been reported as normal, follow-up magnetic resonance imaging demonstrated the absence of olfactory bulbs. Smell testing confirmed the absence of smell and testing of gonadotropin releasing hormone demonstrated an inadequate response. All of these features suggested Kallmann syndrome. This syndrome commonly presents with delayed onset of puberty and decreased or absent sense of smell. There are also many associated features, and the disease is remarkable for its great genotypic and phenotypic variability. Current understanding of its pathogenesis, the commonly associated features of Kallmann syndrome and the impact of diabetes on growth and sexual development are reviewed.

Adolescent↗