Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy

BackgroundFemale carriers of Duchenne muscular dystrophy (DMD), although usually asymptomatic, develop muscle weakness up to 17% of the time, and a third present cardiac abnormalities or cognitive impairment. Clinical features of DMD carriers during childhood are poorly known.PatientsWe describe a cohort of pediatric DMD carriers, providing clinical, genetic, and histopathologic features, with a mean follow-up of 7 years.ResultsFifteen females with a DMD mutation (age range 5 to 18 years) were included. Seven patients (46%) presented with clinically evident symptoms and signs such as limb girdle weakness, abnormal gait, and exercise intolerance. The other eight patients (53%) were evaluated because of an incidental finding of elevated level of creatine kinase. Creatine kinase level was elevated in all, ranging from 392 to 13,000 U/L. Calf hypertrophy was observed in eight patients (53%). No patient developed respiratory or cardiac involvement. The most frequent complication was scoliosis (46%). Four patients (29%) also presented minor learning disabilities or behavioral problems. We performed electromyography in half of patients, showing myopathic pattern in four (53%). Muscle biopsy revealed a mosaic reduction of dystrophin in nine available cases. DMD gene mutations were mostly deletions (71%), resulting in loss of reading frame in five patients (36%). The three patients who experienced the most severe disease course were affected either by a nonsense or frameshift mutation.ConclusionsOur analysis suggests that DMD gene mutations may be suspected in a female child with persistently elevated levels of creatine kinase. Evidence of scoliosis, calf hypertrophy, or myopathic pattern at electromyography may also be helpful, and muscle biopsy is always indicative. DMD carriers should be followed for subtle orthopedic and psychiatric complications during childhood.     

Clinical outcome analysis of male and female genital burn injuries: a 15-year experience at a level-1 burn center

Objectives: The American Burn Association classifies a burn to the genitalia as a major injury. Isolated burns to the penis, scrotum or vulva are rare as a result of protection provided by the thighs and abdomen. Thus, burned genitalia represent an ominous sign of a more extensive total body surface area burn. Methods: A retrospective analysis of consecutive patients admitted to a Level‐1 Burn Unit with a burn involving the genitalia from January 1995 to December 2009 comprised the study population. Results: A total of 393 patients of 5878 patients (6.7%) admitted to the Burn Unit suffered a burn involving the genitalia, including 253 males (64.4%) and 140 females (35.6%). The median total body surface area was 12% (range 1–100%), the most common cause of genital burn was scald (n = 246, 62.9%) and median length of stay was 9 days (range 1–472 days). A total of 269 patients (68.4%) were discharged to home from the hospital, and in‐hospital mortality was 20.9%. Conclusions: The typical profile for those sustaining a genital burn include younger patients (≤30 years‐of‐age), sustaining a median total body surface area burn of 12% from a scald injury, with extensive genitalia involvement. Length of stay for genital burns is usually extended and, as a result of concomitant injuries, is associated with a 20% in‐hospital death rate.     

应用新的治疗满意度量表来评估ED患者及其性伴侣对伐地那非治疗的满意度

治疗满意度量表(TSS)是为评估男性勃起功能障碍(ED)患者及其性伴侣对ED治疗的满意度而制订的一个新量表。该自我报告式的调查问卷由四大部分组成:未治疗期的患者,治疗期的患者,未治疗期患者的性伴侣,以及治疗期患者的性伴侣。对以下6个方面进行评估:自信心、勃起的容易度、对勃起功能的满意度、性快感、对性高潮的满意度以及治疗满意度。TSS量表已经过多国有效性检验和心理学测验,被证明能可靠评价患者及其伴侣对ED治疗的满意度。在最近完成的一项双盲、多中心、平行组、灵活剂量的临床试验中,应用这个新的TSS量表比较了ED患者及其伴侣对伐地那非和安慰剂治疗的满意度。结果发现,伐地那非能显着改善勃起功能以及ED患者和伴侣的自信心、感知到的勃起容易度、性快感、对勃起功能、高潮和药物治疗的满意度。     

Exercise and Sudden Death

Abstract

High school and collegiate female athletes have a significantly increased risk of sustaining a noncontact anterior cruciate ligament injury compared with male athletes participating in the same sport. This review summarizes the current knowledge of the risk factors hypothesized to influence this problem, and the neuromuscular training programs designed to correct certain biomechanical problems noted in female athletes. The risk factors include a genetic predisposition for sustaining a knee ligament injury, environmental factors, anatomical indices, hormonal influences, and neuromuscular factors. The greatest amount of research in this area has studied differences between female and male athletes in movement patterns during athletic tasks; muscle strength, activation, and recruitment patterns; and knee joint stiffness under controlled, preplanned, and reactive conditions in the laboratory. Neuromuscular retraining programs have been developed in an attempt to reduce these differences. The successful programs teach athletes to control the upper body, trunk, and lower body position; lower the center of gravity by increasing hip and knee flexion during activities; and develop muscular strength and techniques to land with decreased ground reaction forces. In addition, athletes are taught to preposition the body and lower extremity prior to initial ground contact to obtain the position of greatest knee joint stability and stiffness. Two published programs have significantly reduced the incidence of noncontact anterior cruciate ligament injuries in female athletes participating in basketball, soccer, and volleyball. Other programs were ineffective, had a poor study design, or had an insufficient number of participants, which precluded a true reduction in the risk of this injury. In order to determine which risk factors for noncontact anterior cruciate ligament ruptures are significant, future investigations should include larger cohorts of athletes in multiple sports, analyze factors from all of the major risk categories, and follow athletes for at least one full athletic season. Future risk assessment studies should incorporate reactive tasks under more realistic sports conditions.     

不同强度运动对女子游泳运动员性激素水平的影响及特点

本研究以放兔分析法观察不同强度运动前后19名女子游泳运动员血清促卵泡激素(FSH)、黄体生成素(LH)、雌二醇(E_2)、孕酮(P)、睾酮(T)及胰岛素(Ins)的变化。受试者在卵泡及黄体两期分别进行短时间高强度间歇运动——6×50m全速力竭性游泳和长时间持续运动——1000m全速力竭性游泳。在运动前5分钟及运动后即刻分别采集静脉血测定各种激素含量。主要结果如下:受试者从事6×50m最大速度间歇游泳后,卵泡期各种激素浓度的变化均显著高于运动前安静状态,黄体期变化不一,FSH、LH降低,E_2、P、T及Ins升高。从事1000m全速游泳后,激素变化表现为卵泡期FSH、LH、E_2、P均升高,T及Ins降低;黄体期E_2、P、T升高,Ins降低,FSH、LH无显著变化,两期相比黄体期运动成绩优于卵泡期。上述结果提示:①受试者月经周期的黄体期机体有氧能力强于卵泡期,运动能力的增强与黄体期E_2、P、T水平升高有关。②FSH、LH与E_2、P分泌变化并非同步一致,说明运动中E_2升高并非受制于促性腺激素,而主要是卵巢分泌量升高所致。③运动中E_2、P、T具有协同效应,可抵抗疲劳,提高人体运动能力。     

Women's knowledge, practises, and intentions regarding correct pelvic floor exercises.

AIM: Although research has demonstrated the efficacy of pelvic floor exercises (PFXs) for the prevention and treatment of female urinary incontinence (FUI), adherence to PFX regimens is commonly poor. There is some evidence that this finding is in part due to a lack of knowledge about how to perform PFXs correctly and misconceptions about the required frequency and duration of PFX regimens. METHODS: By using a sample of 720 postpartum women, this study investigates women's PFX regimens both before and during pregnancy and postpartum. RESULTS: Findings demonstrated that most women were aware of the required frequency for PFXs (at least every second day): just over half had done them this often during pregnancy and 91% intended to do so postpartum. However, few had done them at this level before pregnancy and less than half knew that PFXs should be carried out indefinitely throughout the lifetime. Moreover, only two thirds were confident that they were doing PFXs correctly. CONCLUSION: The findings suggest that, despite good knowledge of the required frequency of PFXs, few women practise them regularly over their lifetime, many apparently perceiving PFXs as relevant only to the childbirth years. Implications for health professionals in addressing these gaps in women's knowledge and practises are discussed.     

无张力阴道吊带术治疗女性压力性尿失禁(附20例报告)

目的 评价无张力阴道吊带术(tension-free vaginal tape，TVT)治疗女性压力性尿失禁的疗效。方法 总结采用TVT术治疗女性压力性尿失禁20例的临床资料。结果 平均手术时间26.5min。拔除尿管后，19例病人控尿满意，1例仍有轻微尿失禁。术后平均随访12(3-24)个月，20例病人均无尿失禁。合并症有1例膀胱穿孔，1例术后轻度排尿不畅，2例尿频尿急。结论 TVT术操作简便快捷，创伤小，合并症少，术后康复快，是一种治疗女性压力性尿失禁的理想方法。     

民族医学院护理学专业女大学生的身体成分节段性分布特点

目的了解护理学专业女大学生的体质健康情况,为学校有关部门对护理学专业女大学生的健康干预以及学生的形体美锻炼提供科学依据。方法利用MC-180身体成分测试仪检测395名右江民族医学院护理专业大学生的身体成分,对身体质量指数以及全身、躯干和四肢的肌肉量和脂肪量进行分析。结果护理学专业女大学生体重过轻人数占总人数的30.13%,肥胖和超重人数占5.31%,四肢肌肉量在21岁达高峰,而脂肪量则在22岁达高峰。肌肉量右上肢明显高于左上肢,脂肪量则左上肢高于右上肢。结论护理学专业女大学生体重过轻人数偏高,上肢的肌肉量和脂肪量分布不均衡,有关部门应对护理学专业女大学生的体质健康进行干预,有针对性指导女大学生调节饮食结构和进行体育锻炼,让她们获得体质健康和形体美。     

The usefulness of antibiotic prophylaxis in invasive urodynamics in postmenopausal female subjects

This study aims to define the usefulness of antibiotic prophylaxis of urinary tract infection (UTI) in postmenopausal female undergoing invasive urodynamics (IU). Two hundred sixty-two postmenopausal females underwent IU. Before urodynamics, all females were double blindly randomized in two age stratified groups. Group 1 (130 patients) received oral antibiotic prophylaxis with a single 400-mg dose of norfloxacin. Group 2 (132 patients) received norfloxacin placebo. Statistical analysis was performed by a chi (2) test to evaluate differences between groups for UTI incidence rate. Fifty-four patients of 262 (20.6%) resulted affected by UTI [24 of 130 subjects who received antibiotic prophylaxis (18.4%) and 30 of 132 subjects who received placebo (22.7%)]. There was no statically significant difference (P = 0.242) regarding UTI incidence rate between patients who received and those who did not received antibiotic prophylaxis. UTI incidence rate in postmenopausal women undergoing urodynamics is not affected by administration of antibiotic prophylaxis at the desired level of efficacy.