三维适形放疗结合252锎中子腔内后装照射治疗中晚期食管癌的临床研究

目的:探讨三维适形放疗结合锎(252Cf)中子腔内后装照射治疗中晚期食管癌的疗效、不良反应及晚期并发症。方法:92例中晚期食管癌患者全部采用三维适形放疗结合锎(252Cf)中子腔内后装照射治疗。三维适形放疗总剂量为45Gy-54Gy,分25-30次,5-6周完成;腔内照射3-4Gy/次,1次/周,共2-4次,总吸收剂量10Gy-16Gy。结果:治疗结束3个月进食梗阻缓解率为95%。近期疗效:完全缓解(CR)27%,部分缓解(PR)69.6%。1、2、3年局部控制率分别为82%、51%、32%;1、2、3年生存率分别为:78%、35%、18%;急性放射性食管炎发生率为54%;晚期食管狭窄发生率9%;食管穿孔发生率2%。结论:中晚期食管癌采用三维适形放疗结合锎(252Cf)中子腔内后装照射能够迅速而持久地缓解进食梗阻症状,提高局部控制率及生活质量,近期疗效显著,放疗不良反应未见明显增加。     

Mutation screening in juvenile polyposis syndrome

Juvenile polyposis syndrome (JPS) is an autosomal dominant cancer predisposition syndrome characterized by congenital anomalies, hamartomatous polyps in the gastrointestinal tract, and the development of tumors in these tissues. The diagnosis of JPS is often difficult because of the phenotypic overlap with other hamartomatous polyposis syndromes. Germline mutations have been identified in MADH4 and BMPR1A, aiding in presymptomatic genetic testing. In this study, we describe the results from 3 years of molecular diagnostic screening in JPS. Seventy unrelated individuals referred to our lab for JPS testing were examined through the sequence analysis of coding regions and exon-intron boundaries in both genes. Germline mutations were identified in 30% of cases, with 11.4% in BMPR1A and 18.6% in MADH4. All mutation-positive individuals were negative for cancer at testing, and a single pulmonary valve stenosis was the only congenital anomaly reported. A majority of mutations identified were novel including the first splice site alteration in MADH4. Based on the limited number of exons in each gene, low polymorphism frequency, and high frequency of frameshift or nonsense mutations identified, direct sequence analysis is a suitable methodology for mutation screening if all coding regions and exon-intron boundaries are examined in both genes.     

肿瘤患者营养不良的研究进展

通过对肿瘤患者营养不良的原因、营养不良对患者疾病进展、治疗效果和生活质量的影响、肿瘤患者营养筛查和评价、营养支持等方面进行综述,为临床更好地改善肿瘤患者的营养状况、提高其生活质量提供参考。     

Repeated dose inhaled budesonide versus placebo in the treatment of croup

OBJECTIVE: To investigate the efficacy and tolerance of 12-hourly dosing with 2 mg 4 mL-1 of inhaled budesonide versus placebo in patients admitted to hospital with moderate/severe croup. METHOD: Eighty-two children hospitalised with croup received either 2 mg 4 mL-1 of budesonide or placebo 12 hourly (maximum four doses) via Ventstream nebuliser in a randomised, double-blind manner. Croup scores were performed at 0, 2, 6, 12, 24, 36 and 48 h from initial nebulisation whilst the patient remained hospitalised. Follow-up assessments were made 1 and 3 days after discharge. RESULTS: Improvement was observed in the budesonide group over the 12-h dosing interval when compared to placebo (P = 0.04). Time to attain a significant clinical improvement was superior in the budesonide group (P = 0.01). Three days after discharge seven of 32 placebo-treated patients and one of 34 budesonide-treated patients had sought further medical follow-up (P = 0.02). CONCLUSION: Twelve-hourly dosing with inhaled budesonide significantly improved symptoms of croup as well as decreased relapse rates when compared with placebo.     

Multigeneration family with short stature,developmental delay,and dysmorphic features due to 4q27-q28.1 microdeletion

Deletions of the long arm of chromosome 4 are rare but have been previously reported to be associated with craniofacial anomalies, digital anomalies, developmental delay, growth failure, and cardiovascular anomalies [1], [2], [3], [4], [5], [6]. Strehle et al. [1] previously presented 20 patients with 4q deletions and began to construct a phenotype–genotype map for chromosome 4q. This report follows up on that work by providing clinical and molecular cytogenetic data on a three generation pedigree including seven patients with short stature, dysmorphic features, and developmental delay identified to have a 4q27-q28.1 microdeletion of approximately 5.68 Mb by oligonucleotide chromosomal microarray. This family represents a rare report of an inherited interstitial deletion of the long arm of chromosome 4. To our knowledge, only two cases have been previously reported [7], [8]. The contribution of candidate genes in the region is discussed.     

Is transrectal ultrasonography a reliable diagnostic approach in ejaculatory duct sub-obstruction?

We studied the diagnostic predictive power of transrectal ultrasonography (TRUS) coupled with semen volume in cases of distal seminal tract sub-obstruction. As a gold standard for diagnosis we used seminal tract washout (STW). Non-azoospermic subjects (n = 112) were submitted to transrectal ultrasonography because of suspected excretory infertility or other andrological pathologies, before performing STW. STW indicated ejaculatory duct sub-obstruction in 36.6% of the patients. Seminal vesicle enlargement (anterior-posterior diameter > or = 15 mm) and seminal vesicle roundish anechoic areas (stasis) were the ultrasonographic anomalies more often associated with ejaculatory duct sub-obstruction. Stepwise logistic regression (SLR) analysis revealed that the ultrasonographic evidence of stasis was highly diagnostic only in the presence of a low semen volume (< or = 1.5 ml) and that ejaculatory duct sub-obstructions may be present but with no evidence of ultrasonographic anomalies. Therefore, TRUS is a useful approach for the treatment of suspected ejaculatory duct sub-obstruction, but is not a reliable diagnostic tool and, before performing transurethral surgery, STW should be mandatory.      

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

Chromosomal microarray analysis (CMA) has improved the diagnostic rate of genomic disorders in pediatric populations, but can produce uncertain and unexpected findings. This article explores clinicians' perspectives and identifies challenges in effectively interpreting results and communicating with families about CMA. Responses to an online survey were obtained from 40 clinicians who had ordered CMA. Content included practice characteristics and perceptions, and queries about a hypothetical case involving uncertain and incidental findings. Data were analyzed using nonparametric statistical tests. Clinicians' comfort levels differed significantly for explaining uncertain, abnormal, and normal CMA results, with lowest levels for uncertain results. Despite clinical guidelines recommending informed consent, many clinicians did not consider it pertinent to discuss the potential for CMA to reveal information concerning biological parentage or predisposition to late‐onset disease, in a hypothetical case. Many non‐genetics professionals ordering CMA did not feel equipped to interpret the results for patients, and articulated needs for education and access to genetics professionals. This exploratory study highlights key challenges in the practice of genomic medicine, and identifies needs for education, disseminated practice guidelines, and access to genetics professionals, especially when dealing with uncertain or unexpected findings.