Male with type II autosomal recessive cutis laxa

A 5-year-old boy, who had pre- and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation and characteristic facies, is described. Disorders with cutis laxa are now divided into five types. The patient had clinical manifestations very similar to those of cutis laxa with bone dystrophy (type II autosomal recessive cutis laxa). Eighteen patients have been reported, the ratio of males to females being 5 to 14. This is the fifth case of this disorder occurring in a male, which provides further evidence for autosomal recessive inheritance.     

Simultaneous Traumatic Posterior Dislocation of Both Hips

Simultaneous traumatic posterior dislocation of both hips, uncomplicated by fracture, is an exceptionally rare entity. The authors could not find any record of a similar case in the world medical literature up till now, and are therefore reporting this case with special consideration of the mechanism of injury and the management.     

Review of cobalt toxicokinetics following oral dosing: Implications for health risk assessments and metal-on-metal hip implant patients

Abstract

Cobalt (Co) can stimulate erythropoietin production in individuals at doses exceeding 25 mg CoCl₂/day. Co has also been shown to exert effects on the thyroid gland, heart and nervous system at sufficient doses. The biological activity of Co is dictated by the concentration of free (unbound) ionic Co²⁺. Blood concentrations, as well as, urinary excretion rates of Co are reliable biomarkers for systemic Co exposure. A recent series of human volunteer Co-supplement studies simultaneously measured Co blood and urine concentrations, as well as, Co speciation in serum, and a number of biochemical and clinical parameters. It was found in these studies that peak Co whole blood concentration as high as 117 μg/L were not associated with changes in hematological parameters such as increased red blood cell (RBC) count, hemoglobin (Hgb) or hematocrit (Hct) levels, nor with changes in cardiac, neurological or, thyroid function. Using a Co biokinetic model, the estimated Co systemic tissue concentrations (e.g., liver, kidney, and heart) following 90-days of Co-dietary supplementation with ～1 mg Co/day were found to be similar to estimated tissue concentrations in implant patients after 10 years of exposure at continuous steady state Co blood concentration of ～10 μg/L. This study is the first to present modeled Co tissue concentrations at various doses following sub-chronic and chronic exposure. The modeled steady state tissue Co concentrations in combination with the data on adverse health effects in humans should help in the characterization of potential hazards associated with increased blood Co concentrations due to exposure to dietary supplements or cobalt-chromium (Co-Cr) containing implants.     

Outcomes of pregnancies following a birth with major birth defects: a population based study

Background/aim

Parents whose first infant had birth defects may worry about a new pregnancy. Our aim was to study pregnancy outcomes among non-malformed second siblings in families where the first birth had a major birth defect.

Methods

Data were from the Medical Birth Registry of Norway from 1967 to 2004. Births were linked to their mothers through the unique national identification numbers, providing sibship files with the mother as the observation unit. The study was based on 538,669 singleton first and second full siblings. Families were classified as affected families if the first infant had a major birth defect. Pregnancy outcomes for non-malformed second siblings following affected first births were compared with second siblings in families without malformed infants. Subgroup analyses were done for families where first infants had neural tube defects, cleft lip with or without cleft palate, abdominal wall defects, limb reduction defects, pes equinovarus and congenital dysplasia of the hip.

Results

Second siblings in affected families did not differ from those in unaffected families in risk of perinatal death, small for gestational age, preterm birth, placental abruption or preeclampsia. Second siblings following an infant with limb reduction defects had a higher risk of breech presentation than second siblings in unaffected families, also when stratifying on previous siblings in vertex presentation (stratified OR 2.20 [95% C.I. 1.17-4.15]).

Conclusion

Parents who proceed to a new pregnancy after a first birth with birth defects may be reassured that, given no recurring defects, there is in general no increased risk of adverse pregnancy outcomes.     

Pain and its relationship with postural asymmetry in adults with cerebral palsy: A preliminary exploratory study

BackgroundPain in adults with cerebral palsy (CP) is commonly reported, with muscular and skeletal dysfunction resulting in postural asymmetry as potential contributors to multifactorial causes of pain. The relationship between pain and postural asymmetry of the thoracic cage, pelvis and hips in non-ambulatory adults with CP however is unknown, particularly in those with cognitive and communication limitations.ObjectiveThe primary aim of this study was to describe and quantify day and night pain in non-ambulatory adults with CP. Secondary aims were to investigate any relationship between pain and postural asymmetry and to describe current pain management strategies utilised.MethodsPain was measured using the Non Communicating Adult Pain Checklist (NCAPC). Posture was measured using the Goldsmith Indices of Body Symmetry (GIofBS) and radiographs. Correlations between pain scores and posture (GIofBS and radiographs) were assessed using non-parametric analysis. Information regarding pain management strategies was gained from medical records and carer interviews.ResultsSeventeen non-ambulatory adults with CP were recruited. High levels of day pain were experienced by ≥ 50% of participants with a high incidence of prescribed medications targeting pain. Strong positive correlations between day and night NCAPC scores, chest right left ratio and night pain, Cobb angle and day pain and between Cobb angle and night pain were evident.ConclusionThe incidence and severity of pain in non-ambulatory adults with CP is high with postural asymmetry a potential contributor. Pain remains difficult to assess and manage in adults with significant cognitive and communication impairments and warrants further investigation.     

通辽市牧区蒙古族居民体质指数、腰臀比与血压水平的关系

目的了解通辽市牧区蒙古族居民体质指数（BMI）、腰臀比（WHR）与血压水平之间的关系。方法采用整群随机抽样的方法，抽取该市蒙古族相对集中的4个嘎查（村）居民1108名，进行现场询问和体格检查。结果该人群超重率、肥胖率、腹型肥胖率、高血压患病率依次为31．4％，15．5％，40．1％，47．65％。腹型肥胖时其1、2、3级高血压患病率显著升高（P〈0．05）：超重、肥胖、腹型肥胖者患高血压的危险分别是相对正常人群的1．2、1．6、1．7倍；血压水平随着BMI、WHR增大而升高：BMI和WHR均正常、BMI异常WHR正常、BMI正常WHR异常、BMI和WHR均异常时高血压患病率分别为37．80％，20．69％，44．62％，65．35％，其RR值分别为1．0，0．6，1．2，1．7。结论BMI和WHR与血压水平密切相关，预防与控制超重、肥胖和腹型肥胖应成为防治通辽市牧区蒙古族居民高血压的重要措施。     

上海保税区企业人群体质指数、腰臀比与血脂异常的关系

目的 探讨上海保税区企业人群体质指数、腰臀比（WHR）与血脂异常的关系。方法 从2006年1月至2007年8月上海外高桥保税区企业员工的体检资料中选取有人体成分、血脂及肝脏超声波检查项目者350名,根据体质指数分为超重肥胖组（177例）及正常组（173例）,比较两组的体质指数、WHR、体脂比率（FAT%）及血脂状况、脂肪肝及血脂异常患病率。结果 超重肥胖组的WHR、FAT%、血清甘油三酯（TG）和胆固醇（TC）的水平明显高于正常组,高密度脂蛋白胆固醇的水平明显低于正常组,两组间的差别均有统计学意义（P=0.000）。超重肥胖组中心性肥胖、脂肪肝和高TG血症、高TC血症、低HDL-C血症的患病率分别为88.70%，72.32%，49.7%33.89%，40.68%，与正常组比较,差别有统计学意义（P=0.000）。结论 通过人体成分测定可以早期识别、早期干预高危人群,对预测和降低心血管疾病的发生有重要意义。