Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered

First-trimester diagnosis of hydrolethalus syndrome in a Chinese family

We report a case resembling hydrolethalus syndrome in a Chinese family. Fetal polydactyly, syndactyly, encephalocele and cardiac malformation were detected on ultrasound examination at 12 weeks' gestation. Termination of pregnancy was performed, and postmortem examination confirmed the findings. This is the first report of a first-trimester prenatal diagnosis of hydrolethalus syndrome in the Chinese population. Copyright © 2004 John Wiley & Sons, Ltd.link_to_subscribed_fulltex

Universal SARS preventive measures in an obstetrics unit: Experience of health care staff

Severe acute respiratory syndrome (SARS) epidemics have affected populations in many countries, including Hong Kong. This disease is infectious, especially in hospital settings. Health care workers have expressed great concern, including those working in obstetrics wards, defined as high-risk areas. Four weeks after implementation of universal precautionary measures at a teaching hospital in Hong Kong, a survey of the health care staff was conducted to identify their feelings and opinions. In spite of general knowledge about SARS epidemics and related mortality, most respondents stated that universal precautionary measures were not very necessary, especially in the obstetrics ward. In addition, respondents were generally dissatisfied with the measures, as most items imposed extra work, inconvenience, and burdens on the staff. Our findings reported the views and satisfaction levels of the front-line staff of an obstetric unit concerning precautionary measures against SARS. The importance of individualized design and implementation of infection control measures is highlighted and discussed.link_to_subscribed_fulltex

Outcome of twin pregnancies after amniocentesis

Aim: The aim of this study was to assess the miscarriage and fetal loss rates of twin pregnancies after amniocentesis. Material and Methods: The outcome of 140 twin pregnancies that had amniocentesis performed from 1997 to 2006 was reviewed. Results: Among 140 twin pregnancies with amniocentesis, 35 were excluded (fetuses with structural anomalies, post-selective feticide, abnormal fetal karyotype, twin-twin transfusion syndrome [TTTS], termination of pregnancy, and unknown outcome). For the remaining 105 twin pregnancies, 102 had live births of all fetuses. One dichorionic twin had silent miscarriage of one fetus at 23 weeks. Another dichorionic twin had intrauterine death of one fetus at unknown gestation. One patient had preterm delivery at 32 weeks with neonatal death of one twin due to severe intrauterine growth restriction. The miscarriage rate (one or both fetuses) for twins before 24 weeks was 0.96% (1/105), the pregnancy loss (one or both fetuses) within 4 weeks of amniocentesis was 0.96% (1/105). The total fetal loss rate was 0.96% (2/210) for twins. Conclusion: Our cohort showed a low fetal loss rate after amniocentesis for uncomplicated twin pregnancies. © 2011 Japan Society of Obstetrics and Gynecology.link_to_subscribed_fulltex

Continued reduction in the incidence of birth trauma and birth asphyxia related to instrumental deliveries after the study period: Was this the Hawthorne effect?

Background: The incidence of birth trauma and birth asphyxia related to instrumental deliveries in our obstetric unit was high (2.8%) in 1998-1999. A study was performed in 2000 to identify the risk factors. Unexpectedly, the incidence (0.6%) was reduced significantly during the study period. We attributed this phenomenon to the famous Hawthorne effect (tendency to improve performance because of awareness of being studied). Objectives: The objectives were to study whether there is a continued reduction in the incidence of birth trauma and birth asphyxia related to instrumental deliveries in the post-study period (2001-2003) and to investigate the presence of underlying confounding factors apart from the Hawthorne effect. Method: To compare the hospital obstetric statistics among the pre-study period (1998-1999), the study period (2000) and the post-study period (2001-2003), in particular the incidence of birth trauma and birth asphyxia related to instrumental deliveries, the instrumental delivery rate, the overall Caesarean section rate, the Caesarean section rate for no progress of labour, the incidence of failed instrumental delivery, the incidence of attempted instrumental delivery in the operating theatre, and incidence of direct second-stage Caesarean sections. Results: The incidence of birth trauma and birth asphyxia related to instrumental deliveries (0.6%) during the study period (2000) was significantly lower than that (2.8%) during the pre-study period (1998-1999; RR 0.27, 95% CI 0.11-0.70). This phenomenon continued into the post-study period (2001-2003) when the incidence of 1.0% was similarly lower than that in the pre-study period (RR 0.35, 95% CI 0.20-0.64). The instrumental delivery rate decreased further in the post-study period (13.5%) compared with those in the study (16.6%) and pre-study (19.5%) periods (RR 0.81, 95% CI 0.75-0.89 and RR 0.69, 95% CI 0.65-0.74, respectively). There was a marked increase in the direct second-stage Caesarean section rate in the post-study period (7.1%) compared to those in the study (0.4%) and pre-study (0.7%) periods (RR 15.9, 95% CI 5.05-49.73 and RR 9.77, 95% CI 5.28-18.08, respectively). Conclusion: A change in obstetric practice was identified that may explain the continued reduction in the incidence of birth trauma and birth asphyxia related to instrumental deliveries in the post-study period. © 2006 Elsevier Ireland Ltd. All rights reserved.link_to_subscribed_fulltex