Double germline mutations in the RET Proto-oncogene in MEN 2A and MEN 2B kindreds.

Medullary thyroid carcinoma (MTC) is a rare form of thyroid cancer representing about 10% of all thyroid malignancies. It occurs mostly as a sporadic tumor or in association with autosomal dominant inherited cancer syndromes--multiple endocrine neoplasia (MEN) types 2A and 2B and familial MTC. Germline mutations in exons 8, 10, 11, 13, 14, 15 and 16 of the RET proto-oncogene are found in most of the familial cases. There are only a few published data reporting multiple germline mutations in the RET proto-oncogene. We have detected double germline mutations in 2 different exons on the same RET allele in two MEN 2 families. In the MEN 2A family, double germline mutation in exons 10 (Cys620Phe) and 13 (Tyr791Phe) was detected. In the MEN 2B family, beside the classical germline mutation in exon 16 (Met918Thr) a second germline mutation in exon 13 (Tyr791Phe) was found. This study revealed that MEN 2 syndromes can also be caused by double germline mutations in the RET proto-oncogene and these families can be added to small worldwide cohort of families with multiple germline mutations.     

Sniff nasal inspiratory pressure: what is the optimal number of sniffs?

Sniff nasal inspiratory pressure (SNIP) measurement is a volitional noninvasive assessment of inspiratory muscle strength. A maximum of 10 sniffs is generally used. The purpose of the present study was to investigate whether the maximum SNIP improved after the tenth sniff. In total, 20 healthy volunteers and 305 patients with various neuromuscular and lung diseases were encouraged to perform 40 and 20 sniffs, respectively. The best SNIP among the first 10 sniffs was lower than the best SNIP among the next 10 sniffs in the healthy volunteers and patients. The SNIP improvement after the twentieth sniff was marginal. In conclusion, a learning effect persists after the tenth sniff. The current authors suggest using 10 additional sniffs when the best result of the first 10 sniffs is slightly below normal, or when sniff nasal inspiratory pressure is used to monitor a progressive decline in inspiratory muscle strength.     

Women's Evaluations of Their Experience in a Multicenter Randomized Controlled Trial of Intrapartum Fetal Pulse Oximetry (The FOREMOST Trial)

Abstract: Background: Fetal pulse oximetry improves the assessment of fetal well‐being during labor. The objective of this study was to evaluate women's satisfaction with their experience with this additional technology. Methods: We surveyed women participating in the FOREMOST trial, a randomized controlled trial comparing the addition of fetal pulse oximetry (FPO) to conventional cardiotocograph (CTG) monitoring (intervention group), versus CTG‐only (control group), in the presence of nonreassuring fetal status during labor. Our survey evaluated 3 aspects of women's experience: labor, fetal monitoring, and participation in the research. The survey was administered within a few days of giving birth and repeated 3 months later. Results: No differences were found between the intervention and control groups for women's evaluations of their labor, fetal monitoring, research, or overall experiences when surveyed on both occasions. Within each study group, a small but statistically significant decline occurred in women's scores for their experience of labor and overall experience from the initial survey close to the time of giving birth, to 3 months later. The magnitude of differences in responses over time was similar for the both groups. Women were more satisfied after a spontaneous or assisted vaginal birth than after cesarean section. Length of time the research midwife was present had a significant positive effect on women's ratings of their experience several days after giving birth (p = 0.006), but no effect at 3 months. Conclusions: The addition of fetal pulse oximetry for the assessment of fetal well‐being during labor did not affect childbearing women's perceptions of fetal monitoring or their labor. Women evaluated their experience in the research process positively overall. Small changes occurred in women's perception of their satisfaction over time. (BIRTH 33:2 June 2006)     

维生素E有什么希望？

过去15年来，有关动脉粥样硬化的流行病学、基础生物学和实验研究均支持下述假设：抗氧化剂可通过抑制动脉壁低密度脂蛋白的氧化而抑制动脉粥样硬化的发生。这种作用机制可抑制胆固醇酯通过巨噬细胞清除受体在动脉斑块内发生病理性沉积。胆固醇酯病理沉积是一种可引起斑块破裂及心血管事件的过程。同样，生物机制亦已确定，癌基因可被抗氧化剂阻断。     

Lung and heart volumes by three-dimensional ultrasound in normal fetuses at 12-32 weeks' gestation.

OBJECTIVE: To establish reference intervals for the fetal right, left and total lung volumes and heart volume between 12 and 32 weeks of gestation. METHODS: Fetal lung and heart volumes were measured using three-dimensional (3D) ultrasound in 650 normal singleton pregnancies at 12-32 weeks. The VOCAL (Virtual Organ Computer-aided AnaLysis) technique was used to obtain a sequence of six sections of each lung and the heart around a fixed axis, each after a 30 degrees rotation from the previous one. The rotation axis for the lungs extended from the apex to the upper limit of the diaphragm dome, and the rotation axis for the heart extended from its apex to its connection to the great vessels. The contour of each of these organs was drawn manually in the six different rotation planes to obtain the 3D volume measurement. In 60 cases the fetal lungs and heart volumes were measured by the same sonographer twice and also by a second sonographer once in order to compare the measurements and calculate intra- and interobserver agreement. RESULTS: The total lung volume and heart volume increased with gestation, from respective mean values of 1.6 and 0.6 mL at 12 weeks to 10.9 and 4.3 mL at 20 weeks and 49.3 and 26.6 mL at 32 weeks. The right to left lung volume ratio did not change significantly with gestation (median, 0.7), whereas the heart to total lung volume ratio increased with gestation from about 0.3 at 12 weeks to 0.5 at 32 weeks. In the Bland-Altman plot, the difference between paired measurements by two sonographers was, in 95% of the cases, less than 0.05, 0.5 and 1.9 mL for each lung at 12-13, 19-22 and 29-32 weeks, respectively, and the corresponding values for the heart volumes were 0.04, 0.4 and 2.3 mL. CONCLUSIONS: In normal fetuses the lung and heart volumes increase between 12 and 32 weeks of gestation. The extent to which in pathological pregnancies possible deviations in these measurements from normal prove to be useful in the prediction of outcome remains to be determined.     

The impact of two-dimensional versus three-dimensional ultrasound exposure on maternal-fetal attachment and maternal health behavior in pregnancy.

OBJECTIVE: To explore the impact of timing and type of ultrasound, particularly three-dimensional (3D), exposure on maternal-fetal attachment and maternal health behavior during pregnancy. METHODS: Subjects were 68 women aged 18 years or older expecting their first child who presented for a routine ultrasound scan at around either 12 or 18 weeks' gestation in Nepean Hospital, Western Sydney. Women completed questionnaires assessing maternal-fetal attachment and health behavior, and were then allocated arbitrarily to either two-dimensional (2D) or 3D ultrasound examination. Repeat questionnaires were completed 1 week later. RESULTS: Maternal-fetal attachment increased after both 2D and 3D ultrasound exposure, and the effect was moderated by the timing of exposure, with women receiving their first ultrasound examination at around 12 weeks showing the greatest change. Alcohol consumption was the only behavior to show significant change following ultrasound exposure, with a reduction in the reported average number of drinks per week. There was no significant difference in the pattern of change for 2D compared with 3D ultrasound exposure, and no effect of ultrasound exposure on maternal perception of the fetus. CONCLUSIONS: Ultrasound has a positive impact on maternal-fetal attachment, particularly in the first trimester. 3D ultrasound did not offer enhanced benefits. Associations between ultrasound exposure and alcohol consumption warrant further investigation. Larger samples are needed to clarify the moderating effects of gestational age and type of ultrasound exposure.     

Altered apoptosis in bronchoalveolar lavage lymphocytes after allergen exposure of atopic asthmatic subjects.

The increased number of lymphocytes in airways during an asthmatic response is believed to be the result of increased recruitment of these cells. However, it is possible that a decreased apoptotic rate could also contribute to the increased number. The aim of the present study was to investigate whether allergen airway provocation influences the apoptotic phenotype of lung and peripheral blood lymphocytes (PBL) in subjects with atopic asthma. Bronchoalveolar lavage (BAL) lymphocytes and PBL from 12 asthmatic subjects previously challenged with allergen (n = 7) or saline (n = 5) were exposed to the apoptotic stimulus tributyltin (TBT) in vitro and assayed for apoptosis. Airway allergen provocation resulted in decreased sensitivity of BAL lymphocytes to TBT-induced apoptosis, with 42.2% (range 33.9-62.5%) apoptotic cells before challenge versus 23.5% (range 15.3-42.4%) after challenge, while PBL were unaffected. The increased apoptosis resistance correlated with higher numbers of Bcl-2-expressing lymphocytes. Interestingly, baseline caspase-3-like activity was significantly elevated in viable BAL lymphocytes compared with viable PBL, and was unaltered by allergen exposure. In conclusion, allergen inhalation renders bronchoalveolar lavage lymphocytes more resistant to apoptosis while peripheral blood lymphocytes were not influenced at all, indicating that the apoptotic phenotype of airway lymphocytes may play a role in asthmatic inflammation.     

Perspectives on Health Among Adult Users of Illicit Stimulant Drugs in Rural Ohio

CONTEXT: Although the nonmedical use of stimulant drugs such as cocaine and methamphetamine is increasingly common in many rural areas of the United States, little is known about the health beliefs of people who use these drugs. PURPOSE: This research describes illicit stimulant drug users' views on health and health-related concepts that may affect their utilization of health care services. METHODS: A respondent-driven sampling plan was used to recruit 249 not-in-treatment, nonmedical stimulant drug users who were residing in 3 rural counties in west central Ohio. A structured questionnaire administered by trained interviewers was used to collect information on a range of topics, including current drug use, self-reported health status, perceived need for substance abuse treatment, and beliefs about health and health services. FINDINGS: Participants reported using a wide variety of drugs nonmedically, some by injection. Alcohol and marijuana were the most commonly used drugs in the 30 days prior to the interview. Powder cocaine was used by 72.3% of the sample, crack by 68.3%, and methamphetamine by 29.7%. Fair or poor health status was reported by 41.3% of the participants. Only 20.9% of the sample felt they needed drug abuse treatment. Less than one third of the sample reported that they would feel comfortable talking to a physician about their drug use, and 65.1% said they preferred taking care of their problems without getting professional help. CONCLUSIONS: Stimulant drug users in rural Ohio are involved with a range of substances and hold health beliefs that may impede health services utilization.