13q- syndrome is a rare genetic disorder characterized by psychomotor retardation, hypotonia, microcephaly, retinoblastoma, ptosis and coloboma. Facial and congenital heart anomalies are also found and about 60% of males have genital and anorectal malformations. We report a case of 13q- syndrome male infant with many of afore mentioned features including imperforate anus, penoscrotal inversion, dolichocephaly, large low set ears, micrognathia, bifid scrotum with arthrogryposis, diagnosed by chromosomal analysis using synchronized high resolution G-banding technique which revealed of 46, XY, del(13) (q22) in all 20 metaphases. Echocardiogram and kidney sonogram were normal.
Anus, Imperforate ; Arthrogryposis* ; Chromosomes, Human, Pair 13 ; Coloboma ; Ear ; Heart ; Humans ; Infant ; Kidney ; Male ; Metaphase ; Microcephaly ; Muscle Hypotonia ; Retinoblastoma ; Scrotum

BACKGROUND AND OBJECTIVE: Epidermal growth factor receptor(EGFR) and TGF beta1 have been known as a central regulator in airway remodeling. There have been some reports demonstrating expression of EGFR and TGF beta1 in airway mucosa of asthmatic patients. However, the expression of EGFR and TGF beta1 in bronchial epithelium of TDI-induced asthmatics has not been observed. The aim of this study was to observe expression of EGFR and TGF beta1 and evaluate their roles in pathogenic mechanism of TDI-induced asthma. METHODS: EGFR and TGF beta1 expression were compared using immunohistochemistry technique in bronchial mucosa from 22 subjects with TDI-induced asthma(group I: 10 newly diagnosed, group II: 12 TDI-induced asthma patients with persistent asthma symptoms for more than 5 years after diagnosis), 7 non-asthmatics undergoing pneumonectomy from lung tumor, and 3 healthy subjects. The intensity of expression was analyzed by two observers. The grade of intensity was presented from 0 to 3. Subepithelial basement membrane (SBM) thickness was measured using an image analyzer. RESULTS: EGFR expression was significantly higher in asthmatic patients than in wntrois (p>0.05), while no significant difference were nosed in TGF beta1 expression (p>0.05). There was no significant difference in EGFR expression between group I and II (p>0.05). However, grade of TGF beta1 expression was significantly higher in group II than those of group I (p<0.05). There was a significant difference in EGFR/TGF beta1 ratio between between group I and II (2.31+/-0.27 vs 1.28+/-0.11, p<0.05). SBM thickness of TDI-induced asthma was significantly higher than those of non-asthmatics (p<0.05), while there was no significant difference between group I and II (p>0.05). CONCLUSION: These findings suggest that EGFR and TGF beta1 may contribute to pathogenesis of TDI-induced asthma. However, further studies are required to evaluate the role of EGFR and TGF beta1 in the pathogenesis of TDI-induced asthma.
Airway Remodeling ; Asthma* ; Basement Membrane ; Epidermal Growth Factor* ; Epithelium ; Humans ; Immunohistochemistry ; Lung ; Mucous Membrane* ; Nose ; Pneumonectomy ; Receptor, Epidermal Growth Factor* ; Toluene 2,4-Diisocyanate* ; Toluene* ; Transforming Growth Factor beta1* ; Transforming Growth Factors*

There is a paucity of research available on the effect of mindfulness on cognitive function. However, the topic has recently gained more attention due to the ageing population in Singapore, catalysed by recent findings on brain function and cellular ageing. Recognising the potential benefits of practising mindfulness, we aimed to develop a localised, self-training mindfulness programme, guided by expert practitioners and usability testing, for older Singaporean adults. This was followed by a pilot study to examine the potential cognitive benefits and feasibility of this self-training programme for the cognitive function of older adults in Singapore. We found that the results from the pilot study were suggestive but inconclusive, and thus, merit further investigation.
Aged ; Aging ; Asian Continental Ancestry Group ; Attention ; Cognition ; Cognition Disorders ; therapy ; Executive Function ; Humans ; Middle Aged ; Mindfulness ; methods ; Pilot Projects ; Program Development ; Singapore ; User-Computer Interface