Alopecia universalis as a single abnormality in an inbred Pakistani kindred

A Pakistani kindred comprising 5 generations contained 9 males and 4 females with alopecia universalis as a single abnormality without any associated defects. The skin biopsy from the scalp showed hair follicles without hair. Analysis of the pedigree is strongly suggestive of autosomal recessive inheritance, and consanguineous loops could account for all affected persons being homozygous for the abnormal allele. © 1993 Wiley-Liss, Inc.     

Clinicopathologic evaluation of CDw75 antigen expression in patients with gastric carcinoma

Situated on mature B lymphocytes, CDw75 antigen is a sialylated carbohydrate epitope generated by the enzyme beta-galactosyl alpha-2,6-sialyltransferase. Although CDw75 antigen expression was found to be correlated with aggressive behaviour of tumour cells in gastric adenocarcinomas, its prognostic role still remains unknown. The objective of this study was to determine the value of CDw75 antigen expression as a marker of the metastatic potential and prognosis of gastric adenocarcinomas. CDw75 antigen expression was evaluated immunohistochemically in 64 tumours and their nodal metastases. The correlation was analysed between CDw75 antigen expression and selected clinicopathological variables, including survival. Positive staining was detected in 31 cases. Non-neoplastic gastric mucosa was consistently negative. CDw75 expression was correlated with larger tumour size (p<0.006), infiltrative growth pattern (p<0.044), advanced stage (p<0.0006), and positive lymph nodes (p<0.0003).The overall survival rate of patients with CDw75 expression was 28%, which was significantly worse than that of patients without CDw75 expression (53%) (p<0.0005). Multivariate analysis showed that CDw75 expression was an independent prognostic indicator, together with the growth pattern of the tumour. These results indicate that immunohistochemical detection of CDw75 antigen expression may be a good indicator of metastatic potential and of prognosis in patients with gastric carcinomas.     

Transfection of human macrophages by lipoplexes via the combined use of transferrin and pH-sensitive peptides

The crucial function of macrophages in a variety of biological processes and pathologies render these cells important targets for gene therapeutic interventions. Commonly used synthetic gene delivery vectors have not been successful in transfecting these non-dividing cells. A combination strategy involving cationic liposomes to condense and carry DNA, transferrin to facilitate cellular uptake, and the pH-sensitive peptide GALA to promote endosome destabilization, resulted in significant expression of a luciferase gene. Transfection of macrophages was dependent on the degree of differentiation of the cells. The quaternary complexes of cationic liposomes, DNA, transferrin, and GALA exhibited a net negative charge, which may obviate a limitation of cationic synthetic vectors in vivo. The lack of cytotoxicity and the expected lack of immunogenicity of these complexes may render them useful for gene delivery to macrophages in vivo.     

Factor V gene (1691A and 4070G) and prothrombin gene 20210A mutations in patients with Behçet's disease

OBJECTIVES: Beh?et's disease (BD) is a chronic inflammatory disorder of still unknown etiology, characterized by endothelial cell injury/dysfunction and thrombosis and/or aneurysm of large blood vessels. Thrombophilia may play a role in the pathogenesis of thrombosis in BD. The common inherited gene defects, factor V (FV) 1691A (Leiden) and prothrombin (PT) 20210A, are known risk factors for thrombosis. The FV 4070G polymorphism was shown to influence circulating FV levels and to contribute to the activated protein C resistance phenotype. The aim of the study was to evaluate the role of FV 1691A, FV 4070G and PT 20210A gene mutations in Turkish BD patients with and without venous thrombosis. METHODS: Seventy-one patients with BD (27 with venous thrombosis) and 91 healthy subjects were included in the study. FV 1691A, FV 4070G, and PT 20210A mutations were determined by a method based on PCR-RFLP. RESULTS: The frequency of FV 1691A heterozygous mutation in BD patients with venous thrombosis (25.9%) was significantly higher than that in healthy subjects (8.8%; OR = 3.63; 95% CI 1.18-11.2). Although the frequency of this mutation in patients with venous thrombosis was higher than that in the patients without venous thrombosis (11.4%), the difference did not reach a statistically significant level (OR = 2.73; 95% CI 0.77-9.70). In BD patients with thrombosis, the frequencies of FV 4070G and PT 20210A were not significantly different compared to the BD patients without venous thrombosis and healthy subjects. CONCLUSIONS: Our results suggest that the FV 1691A, FV 4070G, and PT 20210A mutations are unlikely to play an important role in the pathogenesis of thrombosis in patients with BD.     

Variation of the immune response to sheep erythrocytes in several strains of mice and their crosses

Summary There is a continuous variation in the immune response to sheep erythrocytes in inbred and outbred strains of mice. In animals of equal age strain-specific differences are the most important cause of the variation. Female animals are on the average superior to the male ones. Especially in the 7 S response the crossbreds showed positive deviations from the mid-parent values, thus suggesting the existence of non-additive gene effects. In one crossing experiment maternal influences could be shown.

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Zusammenfassung Die Stärke der Immunantwort nach Injektion einer konstanten Dosis Schaferythrocyten variiert kontinuierlich in verschiedenen Mäusestämmen. Bei gleichaltrigen Tieren stellen stammbedingte Unterschiede eine wichtigere Varianzursache dar als das Geschlecht der Tiere. Trotzdem waren die weiblichen Tiere in der Mehrzahl der durchgeführten Tests den männlichen überlegen. Kreuzungstiere zeigten einen Hybrideffekt, der vor allem die Zahl der indirekten plaquebildenden Zellen in der Milz und den Titer der merkaptoäthanolresistenten Hämagglutinine im Serum betraf. In einem Kreuzungsexperiment konnte ein mütterlicher Effekt beobachtet werden.

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This investigation was supported by the Deutsche Forschungsgemeinschaft.     

Evaluation of the efficacy of masturbation on distal ureteral stones: a prospective,randomized, controlled study

International Urology and Nephrology - To evaluate the effect of masturbation on the spontaneous expulsion of distal ureteral stones 5–10&nbsp;mm in size. A total of 128 men with distal...     

Carbamazepine-induced sperm disorders can be associated with the altered expressions of testicular KCNJ11/miR-let-7a and spermatozoal CFTR/miR-27a

Male infertility is a global health problem, and the underlying molecular mechanisms are not clearly known. Ion channels and microRNAs (miRNAs), known to function in many vital functions in cells, have been shown to play a significant role in male infertility through changes in their expressions. The study aimed to evaluate the alterations of testicular and/or spermatozoal potassium voltage-gated channel subfamily J member 11 (KCNJ11), Cystic fibrosis transmembrane conductance regulator (CFTR), miR-let-7a and miR-27a expressions in carbamazepine-related male infertility. Here, we showed that carbamazepine reduced sperm motility, increased abnormal sperm morphology, and impaired hormonal balance as well as increased relative testis weight and decreased relative seminal vesicle weight. On the other hand, downregulated KCNJ11 and upregulated miR-let-7a expressions were determined in testis (p < .05). Also, downregulated KCNJ11 and upregulated CFTR and miR-27a expressions were found in spermatozoa (p < .05). Interestingly, altered testicular KCNJ11 and miR-let-7a expressions were correlated with decreased sperm motility and elevated sperm tail defect. Besides, spermatozoal CFTR and miR-27a expressions positively correlated with sperm tail defects. The results indicated a significant relationship between ion channel and/or miRNA expression alterations and impaired sperm parameters due to carbamazepine usage.     

Radiologic and Demographic Characteristics of Patients With Plantar Calcaneal Spur

Many people with heel pain in the general population are often diagnosed with plantar calcaneal spurs (PCS). The aim of this study was to evaluate the radiological and demographic characteristics of PCS patients and to compare the differences with the control group. In 2018, 420 patients with weightbearing lateral ankle X-ray images were included in the study. The patients were divided into 2 groups as PCS group and control group. Groups were compared age and age group (20-29, 30-39, 40-49, 50-59, 60-69, 70 and over) weight, height, body mass index (<25, 25-30, >30), chronic diseases as demographically and were also compared radiologically as calcaneal inclination angle (CIA), lateral talocalcaneal angle (LTCA), Bohler angle and Gissane angle. A statistically significant relationship was found between gender and PCS. Plantar calcaneal spur is more common in females than in males (X²:8.101, p < .03). PCS was less common in patients with BMI <25 and 25-29.9, whereas PCS is more common in patients with BMI >30 (X²:7.698, p < .021). Although the CIA angle was within normal limits in both groups, it was significantly lower in patients with PCS than in the control group(p < .05). There was no statistically significant difference between the 2 groups in terms of age, chronic disease, LTCA, Bohler angle, Gissane angle. Female gender and obesity are among the risk factors for PCS formation. CIA may have an important role in PCS formation. In order to clarify the etiology and pathophysiology of PCS, further studies with radiological features are needed.