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Biomedical subjects

H Ibrahim Aydin

Publications and source records attributed to H Ibrahim Aydin.

5 recordsLinked to original sources
PubMed2006

A Turkish case with molybdenum cofactor deficiency.

Molybdenum cofactor deficiency (MIM 252150) is a rare progressive neurodegenerative disorder with about 100 cases reported worldwide. We have identified a male with molybdenum cofactor deficiency and analyzed the molybdenum cofactor synthesis (MOCS)1 gene, MOCS2 gene, MOCS3 gene and GEPH gene. We homozygously identified the CGA insertion after A666 of the MOCS1 gene which produces arginine insertion at codon 222 of MOCS1A. The parents, his brother and his sister who did not have any symptoms were heterozygous for the same mutation. This region was highly conserved in various species. The N-terminal part of MOCS1 a protein is suggested to form the central core of the protein and be composed of an incomplete [(alpha/beta)6] triosephosphate isomerase (TIM) barrel with a lateral opening that is covered by the C-terminal part of the protein. The insertion is located in the loop connecting the fifth beta strand to the sixth alpha helices of the TIM barrel structure. This arginine insertion would induce the conformation change and the lack of the activity.

Arginine↗
PubMed2005

Henoch-Schönlein purpura in a child following varicella.

Henoch-Schönlein purpura (HSP) is one of the most common vasculitis of childhood. It is characterized by nonthrombocytopenic palpable purpura, arthritis, renal and gastrointestinal system (GIS) involvement. HSP is usually triggered by an antigenic stimulus including infectious agents, drugs, cold, insect bite or food. HSP is rarely triggered by Varicella zoster infection. We herein presented a case with HSP following varicella.

Chickenpox↗
PubMed2003

Bone mineral density in children with nocturnal enuresis.

In enuretic children there is a significantly higher incidence of fine and gross motor clumsiness, delayed developmental milestones, slower and poor linear growth, and these patients are shorter than normal children. Skeletal maturation of enuretic children has been determined with bone age in only two studies before, but to our knowledge bone mineral content of enuretic children has not previously been determined by bone mineral density measurement. Bone mineral density was measured by the dual-energy x-ray absorptiometry method in children with nocturnal enuresis and compared with that of a control group to detect whether there were any delay in bone development and any decrease in bone mass. Thirty enuretic children were compared with a control group of 40 healthy children with respect to body height and weight measurements, daily calcium intake, serum calcium, phosphorus and ALP levels, chronological and bone ages, and bone mineral density measurements. Of the parameters compared, bone age was significantly retarded, and bone mineral density was significantly reduced in children with enuresis (8.3 +/- 1.9 vs 9.7 +/- 2.3 years; p = 0.01, and 0.5476 +/- 0.07 vs 0.6077 +/- 0.05 g/cm2; p = 0.001, respectively). Chronological ages demonstrated a significant correlation with the bone ages in both the study and control groups (r = 0.852, p < 0.001, and r = 0.844, p < 0.001, respectively). However, the mean chronological age was significantly greater than the mean bone age in the study group (p < 0.001), whereas the mean chronological age was not significantly different from the mean bone age in the control group (p = 0.514). To clarify the exact mechanism responsible for these manifestations of skeletal maturation retardation, the relationship between the maturational delay of the central nervous system connections or the effect of any perinatal insult and the retardation in skeletal maturation remains to be determined.

Age Determination by Skeleton↗
PubMedDate not supplied

Evaluation of bone mineral density in chronic glue sniffers.

Although acute and chronic toxic effects of inhalant (glue) abuse have been well demonstrated on many organ systems, the effects on the skeletal system and bone mineral content of young people with this addiction have, to our knowledge, not yet been investigated by bone mineral density measurement. In the present study bone mineral density was measured by the dual-energy X-ray absorptiometry method in 25 children and adolescents with inhalant abuse and compared with that of a control group (n=30) to detect whether there was any delay in bone development or any decrease in bone mass. Chronological age, height and weight, serum calcium, phosphorus and alkaline phosphatase levels of the study group were not significantly different from those of the control group (p>0.05), whereas bone mineral density was significantly reduced in the study group (p=0.001). Teenagers with glue vapor abuse may carry an increased risk of future fracture even though the exact mechanism(s) responsible for the toxicitiy of glue vapor on bone metabolism remains to be determined. To ascertain the exact component of glue responsible for bone demineralisation may be of value in proposing a change in the composition of the glue. Education and/or rehabilitation programs currently have the greatest importance in preventing and overcoming the harmful effects of this public health problem which is so common in young children and adolescents.

Absorptiometry, Photon↗