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Chinese Boy (chinese + boy)
Selected AbstractsKabuki syndrome: oral and general features seen in a 2-year-old Chinese boyINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 3 2006M. ATAR Summary., This report describes the case of a young Chinese boy with Kabuki syndrome (KS). KS is a congenital condition characterized by multiple anomalies, especially of the face, and is usually associated with mild to moderate mental retardation. The patient presented with the characteristic facial features of KS and some skeletal and neurological anomalies including a butterfly vertebrae with scoliosis, cerebral atrophy, and irregular dentition. Dental examination revealed screwdriver-shaped incisors and a high arched maxilla, features typical of patients with KS, as well as very poor oral hygiene and early childhood caries. This report includes discussion of the aetiology of KS as well as discussion of the long-term prognosis for this particular patient, and patients with KS in general, with consideration of associated dental and medical issues. [source] Pancreatitis associated with Henoch,Schonlein purpuraJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 3 2001KM Cheung Abstract: A 7-year-old Chinese boy presented with acute pancreatitis. The characteristic rash of Henoch,Schonlein purpura (HSP) did not develop until nine days later, together with painful scalp swelling and calf pain. Acute pancreatitis has only rarely been reported in association with HSP and never before as the sole presenting feature. [source] De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspringJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 1 2001CH Ko Abstract: A 14-year-old Chinese boy with a normal perinatal and early developmental history presented at 5 years of age with migraine, intractable epilepsy, ataxia, supraventricular tachycardia, paralytic ileus and progressive mental deterioration. Computerized tomography revealed multiple cerebral infarcts in the parieto-occipital region without basal ganglial calcification. Magnetic resonance imaging showed increased signal intensity in T2 weighted images in the same regions. A cerebral digital subtraction angiogram was normal. Venous lactate, pyruvate, lactate to pyruvate ratio and cerebrospinal fluid lactate were elevated. Muscle biopsy did not reveal any ragged red fibres; dinucleotide,tetrazolium reductase activity was normal. Mitochondrial DNA analysis detected an adenine to guanine mutation at nucleotide position 3243 of tRNALeu(UUR). All four tissues analysed demonstrated heteroplasmy: leucocyte 56%, hair follicle 70%; buccal cell 64%; muscle 54%. The mother and brother of the proband, both asymptomatic, were also found to have a heteroplasmic A3243G mutation in the leucocytes, hair follicle and buccal cells. Other members of the maternal lineage, including the maternal grandmother, did not have the mutation. This report describes a patient with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, who presented with multisystem involvement. The absence of ragged red fibres in muscle biopsy did not preclude the diagnosis. Mutational analysis of mitochodrial DNA conveniently confirmed the diagnosis of the disorder. A de novo mutaton is demonstrated in this family. [source] Prurigo pigmentosa: a report of two cases that responded to minocyclineCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 8 2009L. Y. T. Chiam Summary Prurigo pigmentosa (PP) is an unusual pruriginous dermatosis of unknown aetiology and is often misdiagnosed. We report two people (a 16-year-old Chinese boy and a 21-year-old Chinese woman), who presented with clinicopathological features consistent with PP. Both patients were successfully treated with minocycline. Better knowledge of this disease will lead to early recognition and appropriate treatment. [source] Perceived peer smoking prevalence and its association with smoking behaviours and intentions in Hong Kong Chinese adolescentsADDICTION, Issue 9 2004Man Kin Lai ABSTRACT Background Among the many personal, social and environmental risk factors of adolescence smoking, normative beliefs stand out for their potential to be modified with factual information on smoking prevalence. Aims To study the perceived peer smoking prevalence and its association with smoking behaviours in Hong Kong Chinese adolescents. Design and setting Cross-sectional territorial-wide school-based survey conducted in 64 randomly selected secondary schools in Hong Kong. Participants A total of 13 280 forms 1,3 students (equivalent to grades 7,9 in the United States) aged 12,16 years. Measurements Perceived peer smoking prevalence, smoking status, intention to smoke in future, other smoking-related factors and demographic information. Findings Overestimation of peer smoking prevalence was observed regardless of gender and smoking status, and was more common in girls (69.4%) than boys (61.0%), and in experimental (74.3%) and current smokers (85.4%) than in never smokers (60.7%). Boys who overestimated and grossly overestimated (over two times) peer smoking were more likely to be current smokers, with adjusted odds ratios and 95% confidence intervals (95% CI) of 1.95 (1.24,3.07) and 3.52 (2.37,5.24) (P for trend <0.001). Similarly, boys who grossly overestimated peer smoking were 76% (95% CI: 41,120%) more likely to have ever smoked. Conclusion Overestimation of peer smoking prevalence was common in Hong Kong Chinese boys and girls, and was associated with current and ever smoking in boys. These findings have important implications on normative education in adolescence smoking prevention programmes. [source] Phenotype and genotype of Dent's disease in three Chinese boysNEPHROLOGY, Issue 2 2009PENG LI SUMMARY Aim: Dent's disease represents a group of hereditary renal tubular disorders mainly characterized by hypercalciuria, nephrocalcinosis and low molecular weight proteinuria. The majority of patients with Dent's disease were found to carry CLCN5 gene mutations, whereas a small fraction of patients carry OCRL1 gene mutations. Up to date, over 100 patients with Dent's disease have been reported to carry CLCN5 gene mutations, but none in Chinese patients. The purpose of this study was to investigate the phenotypes and genotypes of three Chinese boys with Dent's disease. Methods: Three patients from three unrelated families were studied. Genomic DNA was extracted from peripheral white blood cells using a simple salting out procedure after informed consent. Thirteen pairs of primers were used to amplify all coding exons and exon,intron boundaries of the CLCN5 gene by polymerase chain reaction (PCR). All PCR products were sequenced directly on an autosequencer. Results: Low molecular weight proteinuria and hypercalciuria were found in all patients, nephrocalcinosis in two patients and hypophosphataemia in two patients. Three mutations of the CLCN5 gene were revealed, including R467X, L594fsX595 and R637X. Each mutation was inherited from maternal DNA, respectively. The mutation L594fsX595 was never reported before. Conclusion: Low molecular weight proteinuria and hypercalciuria were the main clinical features of the three Chinese boys with Dent's disease. Our study was the first to demonstrate CLCN5 gene mutations in Chinese patients with Dent's disease and we reported a novel mutation. [source] | ||||||||||