A population-based approach to the investigation of osteopenia in Rett syndrome

This study compares bone mass in a national sample of girls with Rett syndrome (RS) with a sample of control children. The Australian RS Database was the source of cases for this population-based study. Hand radiographs were available from 101 of 137 subjects (74% of the known Australian population of girls with RS aged < or = 20 years). Control radiographs matched for age, sex, and laterality were obtained from hospital radiology departments. A measure of cortical thickness was made from the difference between the outer diameter and the medullary space in the second metacarpal bone. A mean z-score value for cortical thickness and percentage cortical area for each individual was calculated. The mean cortical thickness (z score) for girls with RS was -1.94 compared with -0.38 for control children (P<0.001). In girls with RS, the mean cortical thickness decreased with age (P<0.001). In girls who were taking epilepsy medication it was -2.21 compared with -1.23 in those not taking epilepsy medication (P<0.001). There was no evidence of a beneficial effect of increased calcium intake on cortical thickness. A similar pattern was obtained when percentage cortical area was estimated. In multivariate analysis, increasing age and use of anticonvulsant medication were associated with decreased cortical thickness and only use of anticonvulsant medication with decreased percentage cortical area. Fractures had occurred in one-third of cases and it was estimated that just over 40% of girls would sustain a fracture by the age of 15 years. Girls with RS may be at increased risk of fractures and their bone quality compromised as determined by cortical thickness and percentage cortical area measurements from the second metacarpal.     

New growth hormone receptor exon 9 mutation causes genetic short stature

Ayling RM, Ross RJM, Towner P, Von Laue S, Finidori J, Moutoussamy S, Buchanan CR, Clayton PE, Norman MR. Acta Pa; diatr 1999; Suppl 428: 168–72. Stockholm. ISSN 0803–5326.
A novel form of congenital growth hormone insensitivity syndrome (GHIS), which lacks the classic phenotype associated with this condition, is described. Dominant inheritance is shown to result from a heterozygous 876–1 G to C transversion of the 3' splice acceptor site preceding exon 9 in the growth hormone receptor (GHR) gene. The result of this mutation is a severely truncated cytoplasmic domain of the GHR, which is incapable of transmitting a signal. The mutant receptor is shown to form a heterodimer with the wild-type GHR, the activity of which is inhibited in a dominant-negative manner. □ Dominant-negative mutation, growth hormone receptor     

Incidental Non-Inguinals Hernias in Totally Extra-Peritoneal Hernia Repair

Introduction

Totally extra-peritoneal (TEP) inguinal hernia repair allows identification and repair of incidental non-inguinal groin hernias. We assessed the prevalence of incidental hernias during TEP inguinal hernia repair and identified the risk factors for incidental hernias.

Materials and Methods

Consecutive patients undergoing TEP repair from May 2005 to November 2012 were the study cohort. Inspection for ipsilateral femoral, obturator and rarer varieties of hernia was undertaken during TEP repair. Patient characteristics and operative findings were recorded on a prospectively collected database.

Results

A total of 1,532 TEP repairs were undertaken in 1,196 patients. Ninety-three patients were excluded due to incomplete data, leaving 1,103 patients and 1,404 hernias for analyses (1,380 male; 802 unilateral and 301 bilateral repairs; median age, 59 years). Among the 37 incidental hernias identified (2.6% of cases), the most common type of incidental hernia was femoral (n=32, 2.3%) followed by obturator (n=2, 0.1%). Increasing age was associated with an increased risk of incidental hernia, with a significant linear trend (p<0.01). The risk for patients >60 years of age was 4.0% vs 1.4% for those aged <60 years (p<0.01). Incidental hernias were found in 29.2% of females vs 2.2% of males, (p<0.0001). Risk of incidental hernia in those with a recurrent inguinal hernia was 3.0% vs 2.6% for primary repair (p=0.79).

Conclusions

Incidental hernias during TEP inguinal hernia repair were found in 2.6% of cases and, though infrequent, could cause complications if left untreated. The risk of incidental hernia increased with age and was significantly higher in patients aged >60 years and in females.     

Sensitivity of MRI versus mammography for detecting foci of multifocal, multicentric breast cancer in Fatty and dense breasts using the whole-breast pathologic examination as a gold standard

OBJECTIVE: Our aim was to compare the effectiveness of mammography and MRI in the detection of multifocal, multicentric breast cancer. SUBJECTS AND METHODS: Ninety patients with planned mastectomies (nine bilateral) underwent mammography and dynamic gadolinium-enhanced MRI. Off-site reviewers aware of the entry criterion (planned mastectomy) evaluated both examinations for the presence of malignant foci, recording the density pattern on mammography. The gold standard was pathologic examination of the whole excised breast (slice thickness, 5 mm). RESULTS: Of 99 breasts, pathologic findings revealed 52 unifocal, 29 multifocal, and 18 multicentric cancers for a total of 188 malignant foci (158 invasive and 30 in situ). Overall sensitivity was 66% (124/188) for mammography and 81% (152/188) for MRI (p < 0.001); 72% (113/158) and 89% (140/158) for invasive foci (p < 0.001); and 37% (11/30) and 40% (12/30) for in situ foci (p > 0.05, not significant), respectively. Mammography and MRI missed 64 and 36 malignant foci, respectively, with median diameters of 8 and 5 mm (p = 0.033) and an invasive-noninvasive ratio of 2.4:1 (45:19) and 1.0:1 (18:18) (p = 0.043), respectively. The overall positive predictive value (PPV) was 76% (124/164) for mammography and 68% (152/222) for MRI (not significant). In breasts with an almost entirely fatty pattern, sensitivity was 75% for mammography and 80% for MRI (not significant), and the PPV was 73% and 65% (not significant), respectively. In breasts with fibroglandular or dense pattern, the sensitivity was 60% and 81% (p < 0.001), and the PPV was 78% and 71% (not significant), respectively. CONCLUSION: MRI was more sensitive than mammography for the detection of multiple malignant foci in fibroglandular or dense breasts. Mammography missed larger and more invasive cancer foci than MRI. A relatively low PPV was a problem for both techniques.     

Bone Mineral Density and Parathyroid Hormone as Independent Risk Factors for Mortality in Community‐Dwelling Older Adults: A Population‐Based Prospective Cohort Study in Brazil. The São Paulo Ageing & Health (SPAH) Study

Previous studies have shown a relationship between osteoporosis and increased mortality risk. However, none of these studies performed a concomitant evaluation of the parathyroid hormone (PTH)‐calcium‐vitamin D axis and bone mass to accurately determine the contribution of each of these parameters to survival in older subjects. Thus, we sought to investigate the association between bone parameters and mortality in a longitudinal, prospective, population‐based cohort of 839 elderly subjects. Clinical data (including history of fractures and cardiovascular events) were assessed using a specific questionnaire. Laboratory exams, including serum 25OHD and PTH, were also performed. Bone mineral density (BMD) at the lumbar spine and hip were evaluated using DXA. All analyses were performed at baseline (2005 to 2007). Mortality was recorded during follow‐up. Multivariate Cox proportional regression was used to compute hazard ratios for all‐cause and cardiovascular mortality. Over a mean 4.06 ± 1.07 years, there were 132 (15.7%) deaths. These individuals were compared to 707 subjects who were alive at the end of the coverage period for mortality data collection. In a multivariate Cox proportional hazards model, age (HR 1.32; 95% CI, 1.13 to 1.55; p = 0.001, for each 5‐year increase), male gender (HR 1.90; 95% CI, 1.30 to 2.79; p = 0.001), recurrent falls (more than two in the previous year; HR 1.65; 95% CI, 1.06 to 2.56; p = 0.026), diabetes mellitus (HR 2.17; 95% CI, 1.46 to 3.21; p < 0.001), low physical activity score (HR 1.78; 95% CI, 1.14 to 2.79; p = 0.011), prior cardiovascular event (HR 1.76; 95% CI, 1.18 to 2.63; p = 0.006), total hip BMD (HR 1.41; 95% CI, 1.15 to 1.72; p = 0.001, per each 1 SD decrease), and intact PTH (iPTH) (HR 1.06; 95% CI, 1.04 to 1.08; p < 0.001, per each 10 pg/mL increase) were independently associated with all‐cause mortality. The subjects in the highest quartile of PTH (>49 pg/mL) were at a higher risk of cardiovascular death (HR 3.09; 95% CI, 1.36 to 6.99; p = 0.007) compared with the subjects in the lowest quartile (<26 pg/mL). Low BMD and higher PTH were significantly associated with mortality in community‐dwelling older adults. These findings support the notion that careful screening of these bone parameters might lead to better management of older patients and improve outcomes in this population. © 2016 American Society for Bone and Mineral Research.     

小儿气管及支气管异物的CT诊断（附12例内镜报告）

目的探讨薄层CT扫描技术在小儿气管及支气管异物诊断中的应用价值。方法气管内异物1例;右侧支气管内异物5例;左侧支气管内异物6例。金属异物1例;黄豆1例;豌豆1例;爆米花1例;果冻1例;蚕豆2例;花生米2例;瓜子3例。所有病例均行薄层CT扫描检查。所获图像经3位不同资历医师观察。所有病例均为纤维支气管镜取出异物证实。结果薄层CT扫描均能显示异物,术前正确诊断,无一例漏诊。但异物性质未定,仅能区别为不透X线和透X线异物。结论薄层CT扫描技术在小儿气管支气管异物诊断中,可明确异物诊断,可作为小儿透X线气管异物的常规检查。     

肺硬化性血管瘤CT诊断

目的 回顾分析肺硬化性血管瘤(SHL)的CT表现特征，提高术前诊断水平。方法 选择经手术及病理证实的8例SHL，男3例，女5例，平均年龄44．38岁。CT平扫后行病灶1．5mm薄层扫描，再经肘静脉团注100ml非离子型对比剂，以速率3ml／S进行增强扫描。结果 CT平扫8例病灶均呈圆形或类圆形，平均直径3.3cm，2例显示支气管气征，3例内部可见钙化，病灶边缘光整、清楚，无分叶、毛刺、胸膜凹陷、淋巴结转移等恶性征象，但邻近支气管均显示不同程度受压、移位。CT平扫5例密度均匀，3例内有钙化不均匀，测得非钙化部的平均CT值为31．4Hu，注入对比剂后8例均有增强，较平扫的CT值平均上升58Hu。结论 中年女性，CT发现肺内孤立性类圆形病灶，内部显示钙化，病灶增大缓慢，周边支气管和血管有受压、移位时，应想到本病的可能。     

先天性胆管扩张症的MRCP诊断及意义

目的 探讨MRCP对先天性胆管扩张症的诊断价值及意义。方法 回顾性分析13例先天性胆管扩张症的MRCP影像资料，并与B超、ERcP或手术结果进行对照分析。结果 13例MRCP表现均有不同程度的胆管扩张，直径1．5～10．0cm。其中，单纯胆总管扩张8例，肝内，肝外胆管同时扩张2例，单纯肝内胆管扩张3例。与B超，ERCP或手术结果基本一致。结论 MRCP能清楚显示扩张胆管的部位，形态及与周围组织结构的关系，优于其他影像学检查，为临床手术提供可靠依据。     

大学生自杀意念与社会支持和生命质量的相关性

目的 探讨大学生自杀意念与社会支持和生命质量之间的相关性。 方法 采用分层整群随机抽样方法对重庆市9 808名在校大学生进行问卷调查,了解重庆市在校大学生自杀意念的发生情况,并通过多元相关分析探讨大学生自杀意念与社会支持和生命质量之间的关系。 结果 重庆市大学生自杀意念的报告率为13.04%,女生、文科学生、有宗教信仰和有自杀未遂史的大学生自杀意念的发生率较高（分别为16.39%、15.09%、15.05%和68.64%）;有自杀意念的大学生在社会支持总分、客观支持、主观支持、对支持的利用度以及生命质量总分、躯体健康状况、心理健康状况、经济状况、工作状况、与家人关系、与他人关系方面均低于无自杀意念大学生（P<0.01）;大学生自杀意念与社会支持因子的主观支持（r=-0.100,P<0.01）、对支持的利用度呈负相关（r=-0.094,P<0.01）,与生命质量因子的躯体健康状况（r=-0.127,P<0.01）、心理健康状况（r=-0.067,P<0.01）和经济状况（r=-0.081,P<0.01）呈负相关。 结论 重庆市大学生自杀意念的发生率较高。社会、家庭、学校应重视大学生心理健康,完善大学生的社会支持系统,并采取综合干预措施,预防大学生自杀意念和自杀行为的发生。