A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease.

Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR. All eight genes are involved in the early development of the enteric nervous system, and most act through two distinct biochemical pathways mediated by RET and EDNRB. Mutations in RET and EDNRB account for up to 50% and 5% of HSCR cases in the general population, respectively. Interaction between these two signaling pathways could modify RET expression and, therefore, HSCR phenotype. Here, we report the case of a 1-year-old Taiwanese boy who presented with abdominal distension since birth and bilious vomiting after feeding. HSCR (short-segment type) was diagnosed based on X-ray, lower gastrointestinal series and biopsy findings. Mutation analysis revealed a heterozygous T>C missense mutation in exon 1 of the EDNRB gene, that substitutes the highly conserved cysteine-90 residue in the extracellular domain of the G protein-coupled receptor with an arginine residue (C90R). No RET gene mutation was detected in this patient.     

Treatment of mandibular prognathism.

Mandibular prognathism (MP) or skeletal Class III malocclusion with a prognathic mandible is one of the most severe maxillofacial deformities. Facial growth modification can be an effective method of resolving skeletal Class III jaw discrepancies in growing children with dentofacial orthopedic appliances including the chincup, face mask, maxillary protraction combined with chincup traction and the Fr?nkel functional regulator III appliance. Orthognathic surgery in conjunction with orthodontic treatment is required for the correction of adult MP. The two most commonly applied surgical procedures to correct MP are sagittal split ramus osteotomy (SSRO) and intraoral vertical ramus osteotomy. Both procedures are suitable for patients in whom a desirable occlusal relationship can be obtained with a setback of the mandible, and each has its own advantages and disadvantages. In bilateral SSRO, the intentional ostectomy of the posterior part of the distal segment can offer long-term positioned stability. This may be attributable to reduction of tension in the pterygomasseteric sling that applies force in the posterior mandible. While various environmental factors have been found to contribute to the development of MP, heredity plays a substantial role. The relative contributions of genetic and environmental components in the etiology of MP are unclear. The recent identification of the genetic susceptibilities to MP constitutes the first step toward understanding the molecular pathogenesis of MP. Further studies in molecular biology are needed to identify the gene-environment interactions associated with the phenotypic diversity of MP and the heterogenic developmental mechanisms thought to be responsible for them.     

Microbial etiology of acute gastroenteritis in hospitalized children in Taiwan.

BACKGROUND/PURPOSE: Viral infections are the most common causes of acute infectious diarrhea in the pediatric population. To explore any possible microbial etiologies of acute gastroenteritis in children, we detected stool viral antigen including rotavirus, adenovirus, norovirus and astrovirus. We also studied the possible precipitating factors. METHODS: During a period of 1 year (from October 2003 to September 2004), children from birth to 15 years old admitted to the pediatric ward were prospectively surveyed. Stool specimens were collected within 48 hours after admission and then frozen at -40 degrees C until analysis. Enzyme immunoassay was used to detect rotavirus, astrovirus, norovirus and adenovirus. Bacterial culture was performed at the same time. RESULTS: During the study period, 82 stool samples were collected due to acute gastroenteritis and fit the definition of a diarrhea episode. Forty-two (51.2%) patients with viral infection, 11 (13.4%) with bacterial infection, and six (7.3%) with mixed viral and bacterial infection were detected. The most prevalent virus was rotavirus (35.4%), followed by norovirus (29.3%). The most prevalent cause of bacterial infection was Salmonella (19.5%). With regard to clinical severity, rotavirus resulted in longer hospital stay, higher rate of vomiting, stool occult blood, leukocytosis, lower rate in stool pus cell, and C-reactive protein elevation more than 5 mg/dL as compared with norovirus. Only the difference in hospital stay reached significant statistical difference. CONCLUSION: Norovirus is an important cause of acute gastroenteritis in children, although rotavirus is still the leading cause of pediatric acute gastroenteritis.     

Identifying Risk Drinking in Expectant Fathers

Abstract: Background: Identification of risk drinking in expectant fathers may be helpful as an important part of efforts to minimize maternal alcohol use, and as an opportunity to inform them about a problematic practice during a critical developmental stage for the couple. The purpose of this study was to evaluate the T‐ACE screening questionnaire, which asks about t olerance to alcohol, being a nnoyed by other's comments about drinking, attempts to c ut down, and having a drink first thing in the morning (“ e ye‐opener”), in the male partners of pregnant women who themselves were T‐ACE positive. Methods: Two hundred fifty‐four male partners were asked to complete the T‐ACE embedded in a health survey, the Alcohol Use Disorders Identification Test (AUDIT), and other questions about their alcohol use in the past 30 days when their pregnant partners had a median gestation of 11.5 weeks (T₁). After delivery, male partners again completed the T‐ACE and quantity‐frequency questions (T₂). The predictive ability of the T‐ACE and AUDIT was compared, using risk drinking (>4 drinks/day or >14 drinks/week) as the criterion standard. Results: A substantial minority of male partners had risk drinking, 31 percent at T₁ and 25 percent at T₂. Although the AUDIT was better than the T‐ACE as an independent predictor of risk drinking, the latter was most accurate when the tolerance threshold exceeded 2 drinks, the same established for pregnant women. The sensitivity (T₁ = 84.6%, T₂ = 82.8%) and specificity (T₁ = 43.8%, T₂ = 51.1%) of the T‐ACE at this threshold compared favorably with those of the AUDIT at the standard cut point of 8. Conclusions: The T‐ACE may be a practical way for clinicians to identify risk drinking in both pregnant women and expectant fathers. (BIRTH 33:2 June 2006)     

耳穴脉冲刺激对Oddi括约肌张力及肌电活动的影响

目的　探讨耳穴脉冲电刺激治疗胆石症 ,胆绞痛的机制 .方法　选用 15条成年杂种犬 ,进行耳穴体表脉冲刺激与缩胆素 (CCK)对在体狗胆囊张力 ,Oddi括约肌张力及肌电活动影响的对比研究 .结果　耳穴脉冲电刺激对胆囊张力无明显影响 [(1.2 7± 0 .2 6 ) k Pa与 (1.2 4± 0 .2 2 ) k Pa,P<0 .0 5 ],CCK注射液能明显提高胆囊张力 [(1.2 7± 0 .2 6 ) k Pa与 (1.91± 0 .39) k Pa,P<0 .0 5 ],CCK注射液能明显降低Oddi括约肌张力 [(2 .2 4± 0 .5 5 ) k Pa与 (1.5 8± 0 .5 6 ) k Pa,P>0 .0 5 ]及肌电活动 .结论　耳穴脉冲电刺激同 CCK一样 ,均对 Oddi括约肌的张力有显著的降低作用 ,并减少 Oddi括约肌的肌电峰电位爆发波的频率与电压值 ,推测其对胆绞痛有治疗作用 ,并有助于胆结石的排石过程 .     

静脉毒瘾者84例HGV感染状况

目的调查庚型肝炎病毒（ＨＧＶ）在静脉毒瘾者中的感染状况。方法采用逆转录聚合酶链反应（ＲＴ－ＰＣＲ）检测８４例静脉毒瘾者血浆标本。ＨＧＶＲＮＡ经热变性法提取后逆转录为ｃＤＮＡ，在ＨＧＶ５′非编码区（５′ＮＣＲ）设计两对引物进行巢式扩增，产物为２３８ｂｐ，并经限制性内切酶ＨｐａⅡ鉴定扩增产物来自ＨＧＶ。结果８４例中有１５例为ＨＧＶＲＮＡ阳性，阳性率为１７．９％。ＨＧＶＲＮＡ阳性病例中１１例合并丙型肝炎病毒感染（１１／１５）。结论静脉毒瘾者是ＨＧＶ感染的高危人群；不洁注射是获得ＨＧＶ感染的重要途径。     

B超引导下经皮肺穿刺针吸活检对周围型肺肿块的诊断价值

目的探讨Ｂ超引导下经皮肺穿刺针吸活检对周围型肺肿块的诊断价值。方法对３１例患者施行Ｂ超引导肺穿刺针吸活检５６次，进行细胞学和细菌学检查。结果穿刺取材成功率为９３．６％，所获细胞学资料与手术病理诊断或临床治疗随访对照，定性诊断符合率为８９．７％。结论该诊断方法简便实用，并发症轻微，适于临床推广应用。