Application of a pigment measuring device – Mexameter®– for the differential diagnosis of vitiligo and nevus depigmentosus

Background/purpose: Vitiligo and nevus depigmentosus (ND) present similar hypopigmented macules with significantly different prognoses. Although the distinction between the two diseases is important, differential diagnosis relies on medical history and physical examination, which is far from decisive in some cases. The Mexameter^® is an objective skin color-measuring device, and has been reported to provide a reproducible and sensitive means of quantifying small skin color differences. In this study, we investigated the usefulness of a Mexameter^® for discriminating these diseases.
Methods: A selection of 202 hypopigmented skin lesions (182 from vitiligo and 20 from ND) were the objects of this study. Using a Mexameter, MIs were obtained from lesions and symmetrically located control skin. RMIs, ratios of the MIs of lesional skins to control skins, were calculated.
Results: The mean MIs and RMIs were significantly different for vitiligo and ND. The mean RMI of ND lesions was 74±13, which was significantly higher than that of vitiligo lesions (50±24). No ND lesion had an RMI of <50%.
Conclusion: This study shows that the Mexameter^®, an objective pigment-measuring device, can be used to achieve a more accurate diagnosis of hypopigmentary disorders, and that the relative melanin index (RMI), which represents the relative pigment levels, might be a more effective parameter than the melanin index (MI) itself for comparing pigmentation differences.     

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.     

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)     

高分辨率CT对颞部疾病的检查价值

目的：探讨高分辨率CT（HRCT）对颞部疾病的检查价值。方法：对43例颞部疾病患者行常规CT和高分辨率CT（HRCT）检查所获图像对比分析，并讨论HRCT的检查技术和图像后处理。结果：HRCT对病变的显示率及病变引起骨质破坏的程度，病变边缘，轮廓的显示均明显优于常规CT，尤其能清楚显示常规CT难以显示的中耳及内耳的细微结构，结论：高分辨率CT是颞部疾病的首选检查方法，使用高分辨率CT对颞部疾病的检查给临床提供更多，更准确的诊断信息。     

发育期大鼠高热惊厥前后海马γ-氨基丁酸B受体亚基表达的变化

目的：研究高热惊厥(febrile seizures，FS)对发育期大鼠脑内γ-氨基丁酸(γ-aminobutyric acid，GABA)B受体亚基GABABR1与GABARR2蛋白表达的影响。方法：采用热水浴诱导大鼠高热惊厥模型。隔日诱导惊厥1次，共诱导10次，末次惊厥后24h处死大鼠。发育期大鼠随机分为3组：对照组(n＝24)，1次高热处理组(n＝28)，10次高热处理组(n＝40)。高热处理组根据是否出现惊厥再分为1次高热惊厥组(FS1，n＝16)与1次高热未惊厥组(F1，n＝12)，10次高热惊厥组(FS10，n＝15)与10次高热未惊厥组(F10，n＝13)。采用免疫组化方法观察不同次数高热惊厥大鼠脑内GABABR1与GABABR2蛋白表达的变化。结果：FS10大鼠海马齿状回、CAl-CA3区GABABRl和GABABR2蛋白表达明显低于F10、F1、FSl和对照组；F10大鼠上述脑区GABABRl和GABABR2蛋白表达低于F1、FS1和对照组；F1及FS1大鼠与对照组相比差异无显著性；海马各区GABABR1与GABABR2表达的改变大部分平行，但10次高热惊厥后GABABR2在CA1—CA3区下降更明显，而GABABR1在齿状回下降更明显。结论：反复高热惊厥及反复高热均可使发育期大鼠脑内GABABR亚基蛋白表达降低，高热惊厥的影响较单纯高热更为明显，提示GABABR亚单位与发育期大鼠高热惊厥及其脑损伤密切相关。GABABR1与GABABR2改变的不平行可能与受体亚单位组合的可塑性改变有关，这种改变可能导致抑制功能的改变。     

便携式多普勒血管探测仪在皮瓣移植中的应用

目的 :研究皮瓣移植前简单、可靠的血管探测的方法。方法 :在皮瓣移植前 ,以 HADECO ES-1 0 0 0 SPM多普勒血管探测仪对皮瓣血管蒂及皮动脉进行探测 ,与术中皮动脉探查结果进行比较 ,考察术前血管探测的准确性和意义。结果 :皮瓣血管蒂及皮动脉术前探测与术中探查结果完全一致。结论 :便携式血管多普勒仪是皮瓣移植前 ,简单、可靠的血管探测的仪器 ,根据探测结果进行皮瓣设计 ,有效地降低了手术失败的风险