生殖腺及生殖腺外畸胎瘤的超声诊断

目的；探讨超声对各部位畸胎瘤的诊断价值。方法：对42例经手术及病理证实的畸胎瘤与超声检查结果对照，并回顾分析其声像特征。结果：畸胎瘤具有一些特征性声像图表现，其肿块检出率100％，诊断符合率89．8％，其中生殖腺畸瘤诊断符合率96．8％，生殖腺外畸胎瘤诊断符合率82．0％。结论：畸胎瘤的超声诊断符合率较高，应为目前首选检查方法。少见部位畸胎瘤因认识不足易造成误诊，良恶性的鉴别亦存在误差。     

安徽省实施结核病控制日本援助项目两年效果与评价

目的　了解两年来全省日本援助结核病控制项目县的实施情况。方法　按项目实施指南要求 ,检查2 0 0 2 -2 0 0 3年启动项目县有关结核病归口管理、结核病人的发现、治疗及管理情况 ,并现场作督导记录。结果　项目实施两年来 ,发现并入项涂阳结核病人 12 5 14例 ;2 0 0 2年入项的涂阳病人转归初治治愈率 86.3 % ,复治治愈率 70 .0 % ;2 0 0 3年入项的涂阳病人 2个月治疗后痰菌转阴率 ,初复治分别为 84.8%、70 % ;综合医院结核病转诊率平均 47.3 %。结论　项目工作进展较为顺利 ,但各项目县发展不平衡 ;切实落实结核病归口管理 ,加强病人发现工作 ,同时要特别加大对复治涂阳病人的督导管理力度 ,是做好项目“高治愈、高发现”的关键。     

A randomized three-way cross-over study in healthy pituitary-suppressed women to compare the bioavailability of human chorionic gonadotrophin (Pregnyl) after intramuscular and subcutaneous administration

The objective of this study was to compare the bioavailability of s.c. and i.m. administration of human chorionic gonadotrophin (HCG; Pregnyl). In a randomized, single-centre, three-way cross-over study, 18 healthy pituitary-suppressed volunteers were assigned to single HCG injections of 5000 and 10,000 IU i.m. and 10,000 IU s.c. Rate (Cmax, t(max)) and extent [area under curve from zero to infinity (AUC(0- infinity))] of absorption of HCG were determined. Serum immunoactive HCG increased from 0.4-0.5 IU/l at baseline to mean peak concentrations, which were reached 20 h after injection of 156 IU/l with 5000 IU i.m., of 307 IU/l with 10,000 IU i.m. and of 339 IU/l with 10,000 IU s.c. Eight days after administration, < 10% of the maximum HCG activity was found for each regimen. The elimination half-life (t(1/2)) was on average 32-33 h, irrespective of the treatment regimen. Intramuscular and s.c. injections of 10,000 IU HCG were bioequivalent with respect to AUC(0-infinity). The Cmax and t(max) were also similar between the two administration routes but bioequivalence could not be proven due to intersubject variability. Intramuscular doses of 5000 IU and 10,000 IU HCG were dose-proportional. Since s.c. HCG is bioequivalent to i.m. HCG with respect to extent of absorption (its major pharmacokinetic variable) and is well tolerated, the s.c. administration route may be effectively and safely used in assisted reproduction. Moreover, since s.c. injection can be performed by the patients themselves, acceptability may be enhanced.      

Prediction of fetal lung maturity: inaccuracy of study using conventional ultrasound instruments

The ability of three ultrasound (US) parameters--echogenicity, texture, and through transmission--to predict fetal lung maturity was tested in 59 patients using currently available clinical US equipment. The chi square test was used to determine whether there was an association between any single parameter and a "mature" lecithin/sphingomyelin (LS) ratio or specific phosphatidycholine (SPC). Multiple linear regression analysis was used to assess the combined ability of these three parameters and gestational age to predict LS ratio and SPC. There was no correlation between fetal lung maturity, as determined by mature LS and SPC indices, and the US parameters tested using unmodified clinical equipment.     

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

Mutations in OTOF , encoding otoferlin, cause non-syndromic recessive hearing loss. The goal of our study was to define the identities and frequencies of OTOF mutations in a model population. We screened a cohort of 557 large consanguineous Pakistani families segregating recessive, severe-to-profound, prelingual-onset deafness for linkage to DFNB9 . There were 13 families segregating deafness consistent with linkage to markers for DFNB9 . We analyzed the genomic nucleotide sequence of OTOF and detected probable pathogenic sequence variants among all 13 families. These include the previously reported nonsense mutation p.R708X and 10 novel variants: 3 nonsense mutations (p.R425X, p.W536X, and p.Y1603X), 1 frameshift (c.1103_1104delinsC), 1 single amino acid deletion (p.E766del) and 5 missense substitutions of conserved residues (p.L573R, p.A1090E, p.E1733K, p.R1856Q and p.R1939W). OTOF mutations thus account for deafness in 13 (2.3%) of 557 Pakistani families. This overall prevalence is similar, but the mutation spectrum is different from those for Western populations. In addition, we demonstrate the existence of an alternative splice isoform of OTOF expressed in the human cochlea. This isoform must be required for human hearing because it encodes a unique alternative C-terminus affected by some DFNB9 mutations.     

Frequent demonstration of human herpesvirus 8 (HHV-8) in bone marrow biopsy samples from Turkish patients with multiple myeloma (MM).

In order to investigate the frequency of HHV-8 in MM patients from another geographic location, we obtained fresh bone marrow (BM) biopsies from Turkish patients with MM (n = 21), monoclonal gammopathy of undetermined significance (MGUS) (n = 2), plasmacytoma (n = 1) with BM plasma cell infiltration, various hematological disorders (n = 6), and five healthy Turkish controls. The frequency of HHV-8 was analyzed by polymerase chain reaction (PCR) in two independent laboratories in the USA and in Turkey. Using fresh BM biopsies, 17/21 MM patients were positive for HHV-8 whereas all five healthy controls, and six patients with other hematological disorders were negative. Two patients with MGUS, and one patient with a solitary plasmacytoma were also negative. The data from the two laboratories were completely concordant. Also using primer pairs for v IRF and v IL-8R confirmed the results observed with the KS330233 primers. Furthermore, sequence analysis demonstrated a C3 strain pattern in the ORF26 region which was also found in MM patients from the US. Thus, HHV-8 is present in the majority of Turkish MM patients, and the absence of the virus in healthy controls further supports its role in the pathogenesis of MM.     

Doll‐like face: Is it an underestimated clinical presentation of cystic fibrosis?

Cystic fibrosis (CF) is the most prevalant inheritable chronic disease in caucasian children. The clinical syndrome of kwashiorkor is well‐recognized complication of CF. The edema of the face can be seen in kwashiorkor. As doll‐like face is very rare and underestimated clinical presentation of CF patients complicated with hypoproteinemia we evaluated demographic features and laboratory characteristics of 5 patients diagnosed as CF with doll‐like face. Methods: Between June 2005 and January 2008, 115 children were diagnosed as having CF enrolled in our center. Five infants were diagnosed as CF with doll‐like face before the age of 6 months participitated in study. Results: The incidence of doll‐like face younger than the 6 months of age were 9.4% in our center. 48 infants diagnosed as CF without doll‐like face before the age of 6 months participitated in the study as controls (group2). Physical examination revealed doll‐like face and pitting edema of lower extremities in group 1. Their weight and length were under the third centile. Laboratory findings of group 1 include: mean hemoglobin 7.6g/dl; mean total protein 4.4 g/dl; albumin 2.3 g/dl. When compared control group in order to; 11.4 g/dl (range 7.6–17.9); 6.2 g/dl (range 4.0–8.8); 4.7 g/dl (range 2.1–5.8). mean hemoglobin, total protein and albumin values were lower in group 1. Conclusion: In a subgroup of patients, doll‐like face may be the presenting manifestation of CF. Especially in developing countries clinicians should be aware of in patients with malnutrition and doll‐like face and CF should be considered in differential diagnosis. Pediatr Pulmonol. 2008; 43:634–637. © 2008 Wiley‐Liss, Inc.