Cytogenetic and Molecular Genetic Characterization of Children with Short Stature

Background

The deficiency of SHOX gene (short stature homeobox-containing gene) has been recognized as the most frequent monogenetic cause of short stature. SHOX gene has been associated with short stature in Turner syndrome and Leri Weill dyschondrosteosis as well with non-syndromic idiopathic short stature. The aim of this study was to determine the frequency of SHOX deletions and mutations in a cohort of Slovenian children with short stature, and to delineate indications for routine SHOX gene mutation screening.

Methods and results

40 selected subjects with idiopathic short stature were screened for entire SHOX gene deletion and for mutations in the SHOX gene coding region (exon 2 to 6), together with sequences flanking the exon-intron boundaries. FISH analysis on metaphase and interphase spreads revealed no entire gene deletion. Additionally, no pathogenic point mutations or smaller deletion/duplications were identified in this study group.

Conclusions

SHOX gene deletions and point mutations are not a common cause of idiopathic short stature in a cohort of Slovenian children with short stature. Therefore, the frequency of SHOX mutations must be much lower as expected based on the reported data.     

Immunohistochemical evaluation of TGF-β and extracellular matrix proteins expression in rat squamous cell carcinomas

OBJECTIVE: The aim of this study was to establish a possible association between the degree of differentiation of squamous cell carcinomas (SCC) derived from rat oral tissues treated in vivo with the carcinogen 4NQO, and the expression of TGF-β on epithelial cells and the distribution of extracellular matrix proteins (laminin-collagen type IV).
MATERIALS AND METHODS: A parent tumour showing a spectrum of differentiation was used to establish clonal subpopulations that formed differentiated SCC and undifferentiated (spindle cell phenotype) tumours following transplantation to athymic mice.
RESULTS tmmunohistological findings revealed the absence of TGF-β staining on epithelial cells and extracellular matrix proteins in spindle cell tumours. In contrast, staining of SCC revealed a significant number of TGF-β positive cells and the presence of extracellular matrix proteins.
CONCLUSIONS: The findings suggested that there is a positive correlation between histological differentiation, TGF-β expression and the elaboration of extracellular matrix proteins.     

MANAGEMENT OF CONGENITAL ATRESIA EAR

A total of 3 out of 5 cases of major congenital ear malformation seen in out patient department in two years in 1997 and 1998 were operated for functional reconstruction of external auditory canal, middle ear and ossicular chain. 2 cases of bilateral malformation of auricle grade 2 were advised otoplastic repair prior to tympanoplasty. Out of the 3 cases operated by anterior transatretic bone approach, 2 cases had good hearing improvement in air conduction threshold of up to 30 db hearing level (averages of 0.5,1.2 and 3 khz). One case developed external canal stenosis by six months post operatively and drop in hearing. There was no facial nerve injury in any of the cases. This paper analyses the importance of facial nerve delineation preoperatively based on its embryological development and its relationship with temporal bone and membranous labyrinth. It also focuses on the various parameters like timing of surgery, importance of (CT) scanning, use of facial nerve monitor and surgical expertise and experience which govern the surgical intervention and its results in congenital ear atresia.KEY WORDS: Congenital ear atresia, Facial nerve, Transatretic bone approach     

Prevalence of hypertension among the elderly Malays living in rural Malaysia

Background

We are living in an ageing world. The prevalence of hypertension which is an established risk factor for cardiovascular disease and stroke increases with age. The aim of the study was to determine the prevalence of hypertension among the elderly Malays living in rural parts of north Malaysia.

Method

This cross-sectional study was conducted among the elderly (aged ≥60) Malay residents living in 22 villages in a northwestern state called Kedah in Malaysia from 2007 to 2009. Kedah has one of the highest rates of elderly population in the country. Data was collected by trained research assistants. Besides the baseline demographic information, blood pressure was measured using standardised methods using a manual sphygmomanometer.

Results

The response rate was 97.7%. The prevalence of hypertension among the elderly in these villages was 54.5% (228), 118 (28.2%) were known to be hypertensive and were on medication and an additional 110 (26.3%) respondents were newly diagnosed. Elevated mean systolic (146.17 ± 25.23) and diastolic (89.68 ± 15.60) blood pressure was noted among the known hypertensive. There was an almost fourfold risk (OR 3.64) of having uncontrolled blood pressure among the known hypertensive on treatment. Those with malnutrition were at an almost twofold at risk of being hypertensive (OR 1.73). Binary logistics regression showed occupation (OR 1.65), marital status (OR 2.32) and body mass index (BMI) (OR 1.62) as significant predictor variables.

Conclusion

Screening the elderly for hypertension will benefit this group of people by reducing the morbidity and mortality associated with this condition