北京市新生儿短链酰基辅酶A脱氢酶缺乏症筛查、临床特征及基因突变分析

目的：探讨北京市新生儿短链酰基辅酶A脱氢酶缺乏症（SCADD）的发病率、临床特征及基因突变特点。方法：采用串联质谱法检测2014年8月至2022年3月北京市100?603名新生儿干血斑中酰基肉碱水平,采用气相色谱-质谱法检测尿有机酸,高通量测序检测基因突变。对SCADD确诊患儿进行临床、生化指标检查及基因突变特点分析,并随访患儿的生长发育和智能发育情况。结果：100 603名活产新生儿中初筛丁酰基肉碱（C4）浓度升高或伴C4/丙酰基肉碱（C3）比值升高196名,召回131名新生儿,确诊SCADD患儿5例,SCADD发病率为4.97/10万（1/20?121）。5例确诊患儿均无明显临床表现,血C4及C4/C3比值均增加,其中4例尿乙基丙二酸增加。5例确诊患儿中,ACADS基因检测到7种突变,均为已报道错义突变,其中1例患儿为纯合突变,其余均为复合杂合突变。5例患儿的随访年龄中位数为33（4~40）个月,随访期间均未出现临床症状,体格及智力发育正常。结论：北京市SCADD发病率为1/20?121,通过新生儿筛查确诊的SCADD患儿无明显临床症状,预后较好。     

妊娠梅毒219例随访分析

目的：分析广州市番禺区妊娠梅毒筛查、诊治、随访情况,为妊娠梅毒管理工作提供改进依据。方法采用回顾调查分析法,对番禺区2011年10月至2013年9月筛查103665例孕妇新发现的219例妊娠梅毒患者随访情况进行统计。结果103665例孕妇中确诊妊娠梅毒219例,妊娠梅毒筛查阳性发生率为0.21％,均为潜伏梅毒;176例患者在孕期进行了1个疗程的治疗,其中33例积极接受2个疗程规范治疗;40例未治疗;3例因电话空号、关机或拒绝无法随访;先天梅毒共14例,发生率为6．4％。结论妊娠梅毒是一种严重母婴传播疾病,经过规范治疗、密切随访、加强宣传教育,提高患者依从性可降低先天梅毒的发生。     

Vigilancia activa de masas renales pequeñas diagnosticadas en pacientes de edad avanzada o con comorbilidad: en busca de la mejor estrategia de tratamiento

IntroductionAim of this study is to provide our results after long-term active surveillance (AS) protocol for small renal masses (SRMs), and to report the outcomes of patients who remained in AS compared to those who underwent delayed surgical intervention.Patients and methodsWe retrospectively reviewed our database of 58 patients diagnosed with 60 contrast enhancing SRMs suspicious for renal cell carcinoma (RCC). All patients had clinical and radiological follow-up every 6 months. We evaluated the differences between patients who remained on AS and those who underwent surgical delayed intervention.ResultsThe mean age was 75 years, the mean follow-up was 88.5 months. The median initial tumor size at presentation was 2.6 cm, and the median estimated tumor volume was 8.7 cm³. The median linear growth rate of the cohort was 0.7 cm/year, and the median volumetric growth rate was 8.8 cm³/year. Death for metastatic disease occurred in 2 patients (3.4%). No correlation was found between initial tumor size and size growth rate. The mean linear and volumetric growth rates of the group of patients who underwent surgery was higher than in those who remained on surveillance (1.9 vs. 0.4 cm/year and 16.1 vs. 4.6 cm³/year, respectively; P < .001).ConclusionsMost of SRMs demonstrate to have an indolent course and low metastatic potential. Malignant disease could have faster linear and volumetric growth rates, thus suggesting the need for a delayed surgical intervention. In properly selected patients with low life-expectancy, AS could be a reasonable option in the management of SRMs.     

Reliability of gadolinium-enhanced magnetic resonance imaging findings and their correlation with clinical outcome in patients with sciatica

Background contextGadolinium-enhanced magnetic resonance imaging (Gd-MRI) is often performed in the evaluation of patients with persistent sciatica after lumbar disc surgery. However, correlation between enhancement and clinical findings is debated, and limited data are available regarding the reliability of enhancement findings.PurposeTo evaluate the reliability of Gd-MRI findings and their correlation with clinical findings in patients with sciatica.Study designProspective observational evaluation of patients who were enrolled in a randomized trial with 1-year follow-up.Patients samplePatients with 6- to 12-week sciatica, who participated in a multicentre randomized clinical trial comparing an early surgery strategy with prolonged conservative care with surgery if needed. In total 204 patients underwent Gd-MRI at baseline and after 1 year.Outcome measuresPatients were assessed by means of the Roland Disability Questionnaire (RDQ) for sciatica, visual analog scale (VAS) for leg pain, and patient-reported perceived recovery at 1 year. Kappa coefficients were used to assess interobserver reliability.MethodsIn total, 204 patients underwent Gd-MRI at baseline and after 1 year. Magnetic resonance imaging findings were correlated to the outcome measures using the Mann-Whitney U test for continuous data and Fisher exact tests for categorical data.ResultsPoor-to-moderate agreement was observed regarding Gd enhancement of the herniated disc and compressed nerve root (kappa<0.41), which was in contrast with excellent interobserver agreement of the disc level of the herniated disc and compressed nerve root (kappa>0.95). Of the 59 patients with an enhancing herniated disc at 1 year, 86% reported recovery compared with 100% of the 12 patients with nonenhancing herniated discs (p=.34). Of the 12 patients with enhancement of the most affected nerve root at 1 year, 83% reported recovery compared with 85% of the 192 patients with no enhancement (p=.69). Patients with and without enhancing herniated discs or nerve roots at 1 year reported comparable outcomes on RDQ and VAS-leg pain.ConclusionsReliability of Gd-MRI findings was poor-to-moderate and no correlation was observed between enhancement and clinical findings at 1-year follow-up.     

Differences in response rates between mail,e-mail,and telephone follow-up in hand surgery research

Background

There is a need to determine the difference in response to mail, e-mail, and phone in clinical research surveys.

Methods

We enrolled 150 new and follow-up patients presenting to our hand and upper extremity department. Patients were assigned to complete a survey by mail, e-mail, or phone 3 months after enrollment, altering the follow-up method every 5 patients, until we had 3 groups of 50 patients. At initial enrollment and at 3 month follow-up (range 2–5 months), patients completed the short version of the Disabilities of the Arm, Shoulder, and Hand questionnaire (QuickDASH), the short version of the Patient Health Questionnaire (PHQ-2), the Pain Self-Efficacy Questionnaire (PSEQ), and rated their pain intensity.

Results

The percent of patients that completed the survey was 34 % for mail, 24 % for e-mail, and 80 % for phone. Factors associated with responding to the survey were older age, nonsmoking, and lower pain intensity. Working full-time was associated with not responding.

Conclusions

The response rate to survey by phone is significantly higher than by mail or e-mail. Younger age, smoking, higher pain intensity, and working full-time are associated with not responding.Type of study/level of evidence: Prognostic I     

Mortality and risk factor analysis for Candida blood stream infection: A multicenter study

Candida blood stream infection (candidemia) is severe systemic infection mainly develops after intensive medical cares. The mortality of candidemia is affected by the underlying conditions, causative agents and the initial management. We retrospectively analyzed mortality-related risk factors in cases of candidemia between April 2011 and March 2016 in five regional hospitals in Japan. We conducted bivariate and multivariate analysis of factors including causative Candida species, patients' predisposing conditions, and treatment strategies, such as empirically selected antifungal drug and time to appropriate antifungal treatment, to elucidate their effects on 30-day mortality. The study enrolled 289 cases of candidemia in adults. Overall 30-day mortality was 27.7%. Forty-nine cases (17.0%) were community-acquired. Bivariate analysis found advanced age, high Sequential Organ Failure Assessment (SOFA) score, and prior antibiotics use as risk factors for high mortality; however community-acquired candidemia, C. parapsilosis candidemia, obtaining follow-up blood culture, and empiric treatment with fluconazole were associated with low mortality. Logistic regression revealed age ≥65 years (adjusted odds ratio, 2.13) and sequential organ failure assessment (SOFA) score ≥6 (6.30) as risk factors for 30-day mortality. In contrast, obtaining follow-up blood culture (0.38) and empiric treatment with fluconazole (0.32) were found to be protective factors. The cases with candidemia in associated with advanced age and poor general health conditions should be closely monitored. Obtaining follow-up blood culture contributed to an improved prognosis.     

Pregnancy after liver transplantation：Four-year follow-up of the first case in mainland China

The safety and feasibility of pregnancy following liver transplantation（LT） have been accredited in a series of LT center.The first case in mainland China is reported.The follow-up data of a 22-year-old pregnant patient with end-stage liver disease undergone orthotopic liver transplantation were analyzed retrospectively.After surgery,the patient was uneventfully recovered and became pregnant 33 mo after LT.The patient was closely monitored and treated with a standard and individualized triple-drug immunosuppressive therapy throughout her pregnancy.Caesarean section was performed in March 18,2004,and a health live-born infant was delivered.After the delivery,a 4-year follow-up period indicated that the patient was satisfactory with her condition and her baby was healthy.Our case shows that a successful pregnancy following LT is possible and safe in women with end-stage liver diseases under close monitoring.Three factors including mother,baby,and transplanted liver function must be considered for the safety of high-risk pregnancies.     

The impact of follow-up physician visits on emergency readmissions for patients with asthma and chronic obstructive pulmonary disease: a population-based study

PURPOSE: To examine the relation between follow-up office visits after emergency discharge and the risk of emergency readmissions in patients with asthma or chronic obstructive pulmonary disease (COPD). SUBJECTS AND METHODS: We used population-based data to identify all patients in Alberta, Canada, who had at least one emergency visit for asthma or COPD between April 1, 1996, and March 31, 1997 (N = 25 256). A Cox proportional hazards model was used to estimate the adjusted relative risk (RR) of a repeat visit to an emergency department within 90 days of an initial emergency visit in patients who did or did not have an office follow-up within the first 30 days. RESULTS: There were 7829 patients (31%) who had an office visit during the 30 days after their initial emergency encounter. Follow-up visits were associated with a significant reduction in the 90-day risk of an emergency readmission (RR = 0.79; 95% confidence interval [CI]: 0.73 to 0.86). Sensitivity analyses showed that a follow-up visit was inversely associated with a repeat emergency visit after adjusting for age, sex, area of residence, and income. CONCLUSION: Although these data should be interpreted with caution because of missing information on factors such as quality of care, they suggest that follow-up office visits are effective in reducing early relapses in patients who have been recently treated in emergency departments for asthma or COPD.     

严重急性呼吸综合征康复患者出院后随访CT分析

目的研究严重急性呼吸综合征（SARS）康复患者肺部残留病灶的CT表现及其转归。方法83例临床治愈患者出院1个月后进行X线胸片和CT检查，对肺部有病灶的病例间隔2个月后再次复查X线胸片和CT．对两次随访检查结果进行对比并分析肺部残留病灶与SARS类型的关系。结果30．1％（25／83）病例肺部存在残留病灶．CT表现包括磨玻璃影6例，网状影5例，片状影3例，索条影2例．磨玻璃影和卜述其他病灶混合影9例，2个月后复查除两例外均有不同程度吸收；SARS重型病例肺部残留病灶比例（36．8％）高于普通型（15．4％），两者差异有统计学意义。结论部分临床治愈SARS患者肺部仔在残留病灶，CT表现以磨玻璃影、网状影为主．SARS重型病例肺部残留病灶比例高于普通型，这些病灶经治疗大部分有不同程度吸收。     

肾动脉狭窄支架置入术疗效随访观察

目的 评价肾动脉狭窄病人支架置入术的中长期疗效.方法 选取广东省心血管病研究所2000年3月～2003年12月行肾动脉支架置入术208例,分别在术前、术后住院期间、术后随访至少6个月的病人血压、服用抗高血压药和检测血清肌酐水平,记录手术并发症及随访病人的临床不良事件.结果 208例共254条肾动脉成功放置了支架,主要临床不良事件发生率约为1.9%.随访期血清肌酐从术前(189±6) μmol/L,下降至(146±5) μmol/L(P=0.007),血压从术前(163±12)/(101±9)mm Hg(1 mm Hg=0.133 kPa)下降至(136±11)/(76±7) mm Hg(P=0.02).结论 肾动脉支架置入术是一种安全、有效治疗肾动脉狭窄的方法.