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Biomedical subjects

B Buch

Publications and source records attributed to B Buch.

At least 19 recordsLinked to original sources
PubMed2006

Association of genetic markers within the KIT and KITLG genes with human male infertility.

BACKGROUND: There is much evidence involving the KIT tyrosine kinase receptor and its ligand KITLG in the survival and proliferation of germ cells. Animal models and functional studies in humans suggest that this signalling pathway plays a role in male infertility. METHODS: We studied three and two single-nucleotide polymorphisms (SNPs) (rs3819392, rs3134885, rs2237012, rs10506957 and rs995030) located within the genomic region of the KIT and KITLG genes, respectively. A total of 167 idiopathic infertile men (sperm counts <5 million spz/ml) and 465 unrelated healthy controls from the same geographical region were genotyped for these SNPs. RESULTS: We found a statistically significant association of the rs3819392 polymorphism, which is located within the KIT gene, with idiopathic male infertility. In addition, a deviation from the Hardy-Weinberg equilibrium (HWE) law was observed for rs10506957 polymorphism within the KITLG gene only in the infertile group. CONCLUSIONS: Our data indicate that the KIT/KITLG system may be involved in a low sperm count trait in humans.

Chromosome Mapping↗
PubMed2003

Orthodontic radiographic procedures--how safe are they?

Parents of children subjected to radiographic procedures for orthodontic purposes occasionally express concern about possible radiation overdose to sensitive structures in the head and neck region. The following study was designed to determine this. Twenty Harshaw lithium fluoride thermoluminescent dosimeters (TLDs) were irradiated using a calibrated RT 100 X-ray source. These were read in a Toledo 654 TLD reader. The readings of all dosimeters fell within 10% on either side of the mean reading for the dosimeters. Twelve were finally selected which fell closest to the mean. Six of the TLDs were randomly selected and placed in a Rando female phantom in a position corresponding to the lens of the eye-3 in the left and 3 in the right eye. A standard pantomogram was taken of the phantom using an Orthophos machine. The TLDs were then replaced by another two groups of 3 in the same positions in the phantom and a lateral cephalogram taken on the same machine. The TLDs were read in the Toledo reader. Six of the 12 TLDs were then randomly selected for re-use. Three were placed in the phantom in the region of the thyroid and a pantomogram again taken. The procedure was repeated for a cephalogram and the TLDs again read. In all cases the readings of each group of 3 TLDs did not vary by more than 10% on either side of the mean readings. The TLD readings were then converted by means of a conversion factor to actual dose measurements. The doses to left and right eyes and to the thyroid were respectively found to be 0,0151, 0,0222 & 0,0896 mSv for the pantomogram and 0,0351, 0,0183 & 0,0177 mSv for the cephalogram--an almost insignificant dose in terms of the "background equivalent" concept.

Cephalometry↗
PubMed2001

Gardner's syndrome--the importance of early diagnosis: a case report and a review.

Gardner's syndrome (familial polyposis coli) is a genetic condition characterised by colonic polyps that carry a 100% risk of malignancy if untreated. Early diagnosis, in which an astute and knowledgeable dentist can play an essential role, is therefore of paramount importance. The presence of multiple unerupted teeth provides the dentist with a major pointer to the possible presence of this disease, which may be provisionally diagnosed on the detection of two other obvious features, namely osteomas and cutaneous lesions. This fact is clearly illustrated by the accompanying case report. Extracolonic manifestations increase the morbidity and make treatment more difficult. The presence of large desmoid tumours may be a serious complicating factor. Gardner's syndrome may be accompanied by adenomas of the stomach and duodenum and very rarely by malignant tumours of the central nervous system. Regular surveillance by means of colonoscopies must be carried out on all individuals suspected of having the disease in order to implement timeous life-saving prophylaxis.

Adult↗
PubMed1992

Localization of impacted teeth utilizing inherent panoramic distortions.

Distortions in the size of images seen on panoramic radiographs can assist the clinician in determining the site of impacted teeth in relation to the dental arch. Application of this principle can often eliminate the necessity for additional radiographic views and prevent exposure of the patient to unnecessary radiation.

Cuspid↗