Foot Polydactyly and Polysyndactyly: Genetic Implications in Two Families

The purpose of this study was to determine the genetic characteristics of foot polydactyly and identify its inheritance pattern by analyzing familial pedigree. Five cases from 2 Korean families were studied: 1 is a family whose members have been affected for 4 generations and the other for 2 generations. Using peripheral blood samples, we performed chromosomal analysis using the banding technique with Giemsa stain and karyotyping. We investigated the shape and structure of 46 chromosomes, looking for translation, deletion, inversion, ring chromosome, and isochromosome abnormalities. All peripheral blood samples demonstrated no chromosomal abnormalities, though the genetic nature of foot polydactyly and a new genetic locus was identified recently by other studies. Familial pedigree analysis suggested that polydactyly was inherited as an autosomal dominant trait in the first family. The mode of inheritance for the second family could not be determined due to an insufficient number of family members. The result of this study brought us to the conclusion that, while genetic factors play a major role in polydactyly, other factors may contribute to its occurrence.     

胃粘膜癌前病变的形态定量研究——胃粘膜核腺比值的定量分析

应用自动化图象分析仪对131个胃粘膜肠型病灶(单纯性肠化27个;异型增生:轻度30,中度35个,重度20个;肠型胃癌19个)进行定量分析。以单个腺管内细胞核总面积与细胞面积之比(ING)作为反映细胞核大小、数量及覆层排列程度的客观定量指标。结果发现:单纯性肠化(对照组)0.165±0.025,轻度异型增生0.21±0.023,中度异型增生0.259±0.026,重度异型增生0.32±0.028,分化型胃癌0.371±0.052,各组ING值呈正态,各组间的均值有非常显著的差异(P<0001)。因而,ING可作为胃粘膜癌前病变诊断的指标。     

Characterization of peptide components in the venom of the scorpion Liocheles australasiae (Hemiscorpiidae).

Scorpion venoms are composed of a number of neurotoxic peptides. A variety of toxins have been isolated from the venoms of scorpions of the family Buthidae, however, little interest has been paid to non-Buthidae scorpions. In this study, we examined the toxicity of the venom of Liocheles australasiae (Hemiscorpiidae) to mice and crickets, and characterized the peptide components by HPLC and mass spectrometry. Over 200 components were detected in the L. australasiae venom by LC/MS analysis, with components of molecular masses ranging from 500 to 5000 Da being particularly abundant. A number of peptides contained two to four disulfide bridges, which was estimated based on the mass difference after derivatization of Cys residues. A peptide having a monoisotopic molecular mass of 7781.6 Da and four disulfide bridges was isolated from the venom. The peptide has a primary structure similar in terms of the position of eight Cys residues to those observed in several peptides found from scorpions, ticks and insects, although biological roles of these peptides are unknown.     

Stereophotogrammetric measurement of the nasolabial fold in repose: a study of age and posture-related changes

The nasolabial fold is a significant facial landmark. Its size, shape, and symmetry are important in facial reanimation surgery, while effacement is an important goal in rejuvenation surgery. However, quantitative data for the nasolabial fold volume (NLFV) and depth is still unavailable. We present a new method of measurement using 3D color speckle stereophotogrammetry and its application in the assessment of NLFV. The VECTRA-3D system was validated to determine its minimum resolution and accuracy. Normal volunteers aged 13–84 years (n = 87) were imaged in repose. Mother–daughter pairs (n = 15, aged 13–61) were imaged in the upright and supine positions. All data were processed using custom software and analyzed by linear regression and nonparametric tests as appropriate. NLFV varied from 0.0026 to 0.2306 ml. There was significant correlation between NLFV and age (r = 0.7269, p < 0.0001). Men had significantly higher NLFV than women across all ages. There was no significant difference between the left and right NLFV. NLFV altered significantly from upright to supine in all subjects (p = 0.0012). However, the mothers increased their NLFV by 32% from supine to upright postures, which was a greater change than observed in their daughters. We have demonstrated a rapid, objective, and non-invasive assessment tool for facial reanimation and rejuvenation surgery. We have quantified the effects of age and posture on NLFV, and the efficacy and longevity of rejuvenation procedures are currently under investigation.     

乳头溢液的外科治疗（附207例分析）

目的探讨乳头溢液的渗断和治疗方法，为合理的治疗提供科学依据。方法回顾分析手术治疗的207例乳头溢液病例资料。结果（1）在非哺乳期间发生乳头溢液多属病理性溢液；（2）通过美蓝法或平针头指示法行区段切除术，安全准确。结论（1）乳头溢液特别足血性溢液应手术治疗．对早期发现和早期治疗乳腺癌有鼋要的临床意义。（2）乳头溢液伴肿块者，不沧年龄大小、溢液性质均应手术治疗。     

What factors influence survival in patients with unresected synchronous liver metastases after resection of colorectal cancer?

OBJECTIVE: The aim of this study was to determine whether the survival of patients with untreated synchronous liver metastases after resection of a colorectal cancer was associated with any features of the primary tumour. METHODS: Information for 398 consecutive patients with unresected liver metastases in the period 1971-2001 was examined by multivariate survival analysis. RESULTS: Of 19 clinical and pathological variables considered, survival was independently associated only with residual tumour in a line of resection (hazard ratio (HR) 1.95), venous invasion (HR 1.87), right colonic tumour (HR 1.68), lymph node metastasis (HR 1.54), and extra-hepatic metastasis (HR 1.16); 8.3% of patients had none of these adverse features. Their 2-year overall survival rate was 39.2%, compared with only 16.5% (P < 0.001) in those with one or more adverse features. CONCLUSIONS: These findings may assist in selecting patients most likely to benefit from treatment of hepatic metastases and in counselling patients and their relatives.     

Reassessment of the accuracy of traditional sperm characteristics and adenosine triphosphate (ATP) in estimating the fertilizing potential of human semen in vivo

Receiver operating characteristic curves and accuracy parameters were computed for traditional sperm characteristics (concentration, motility, morphology) and the number of peroxidase negative cells, and the concentration of adenosine triphosphate (ATP) in semen from populations of fertile and infertile men, and men who achieved a pregnancy after varicocele treatment. The percentage and concentration per millilitre of spermatozoa with rapid linear progressive motility, and the ATP concentration, provided the best discrimination between fertile and treated fertile from infertile men. The misclassification rate was higher for sperm morphology, total progressive motility and viability, whereas sperm concentration and the total sperm count per ejaculate had the worst discriminating power. The number of peroxidase negative cells per 100 spermatozoa was highly specific in identifying men who achieved pregnancy after varicocele treatment. The lower limit of normality of sperm characteristics was remarkably different between fertile men and men achieving pregnancy after treatment or during infertility work-up.     

A simulation study of three sequential methods for the comparison of two treatment groups when the response criterion is censored

Three recent sequential methods, group sequential analysis (GSA), the sequential probability ratio test (SPRT) and the triangular test (TT) are well suited to randomized clinical trials with a censored response criterion, as they do not require matched pairs of patients. We undertook a simulation study to investigate their statistical properties and to compare these three methods with the fixed-sample design. Our results suggest that the three methods have the expected statistical properties for size and power; they allow an important reduction of the average number of events before stopping, except with GSA when there is no treatment difference; the triangular test (closed design) appears the optimal design, as the variance of the number of events is smaller than with the sequential probability ratio test (open design) and analysis after every twenty new events does not alter the statistical properties of these sequential methods and enhances their usefulness.     

Immunohistochemical localization of cathepsin D, proliferating cell nuclear antigen and epidermal growth factor receptor in human breast carcinoma analysed by computer image analyser: correlation with histological grade and metastatic behaviour

 

Aims:

The purpose of this study is to examine the relationship between immunohistochemical localization of cathepsin D (CD), proliferating cell nuclear antigen (PCNA) and epidermal growth factor receptor (EGF-R) in 65 cases of breast carcinoma in Japanese women and traditional prognostic factors such as histological grade, lymph node status, mitotic rate and clinical stage, in order to possibly identify some indicator(s) that may be specifically associated with prognosis.  

Methods and results:

Serial sections of 5-μm thick were cut from the archival formalin-fixed, paraffin-embedded tissue blocks, and processed for CD, PCNA and EGF-R immunostaining. The results were analysed by computer-based image analysis system. All samples showed a positive immunoreaction for cathepsin D in both the parenchyma and stroma. However, the staining area and intensity varied from cell to cell in the parenchyma and stroma as well as among samples. Subsequently, the evaluation of immunostaining for CD was separately performed in both the parenchyma and stroma (CDpar and CDstr, respectively) and the combination of both components (CDtotal). PCNA and EGF-R showed positive immunostaining almost exclusively in the parenchymal component of the carcinoma tissue specimens. CDtotal significantly correlated with the histological grade, PCNA index (PI), mitotic rate (MR), EGF-R and lymph node metastasis. Significant correlation was also demonstrated between CDpar and the histological grade, EGF-R and lymph node metastasis, or between CDstr and MR, EGF-R and lymph node metastasis. EGF-R correlated highly with the histological grade, MR score, lymph node metastases and recurrence-free survival.  

Conclusions:

Both the CD parameters and EGF-R are valuable indicators for predicting the biological behaviour of human breast carcinoma.