[Analysis of PROKR2 gene mutation in patients with hypogonadotropic hypogonadism].

To investigate the clinical and genetic characteristics of patients with idiopathic hypogonadotropic hypogonadism (IHH), the clinical data of 23 patients with IHH were retrospectively analyzed. Gene analyses were accomplished with whole-exome sequencing (WES) and Sanger sequencing. Functional prediction of mutation sites was conducted using two bioinformatics platforms, SIFT and Polyphen. Among the 23 patients with IHH, 9 patients carried prokinin 2 (PROKR2) gene mutations including 4 missense mutations (p.W178S, p.Y113H, p.A103V, p.R164Q), and 1 frameshift mutation (p.D42delinsDED), the remaining 14 cases were found negative in gene sequencing. Functional prediction showed that the above mutations may affect protein function suggestive of a pathogenic role of PROKR2 mutation in the patients. There were no significant differences in the levels of follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol between the IHH patients with PROKR2 gene mutation and those without. PROKR2 gene mutation might associated with IHH, and the mutations reported in the present study could enrich the pathogenic spectrum of genes.

Regulatory mutations in the A2M gene are involved in the mastitis susceptibility in dairy cows.

Mutations, such as single nucleotide polymorphisms (SNPs), in the 5'-flanking and microRNA (miRNA) regulatory regions may result in altered gene expression levels and cause diseases. Alpha-2-macroglobulin (A2M) has the function of binding host or foreign peptides and particles, and thereby serves as a defense barrier against pathogens in the plasma and tissues of animals. To investigate the functional markers of the A2M gene associated with mastitis, the promoter was characterized and SNPs that affect promoter activity or binding affinity with the target miRNA were identified using the luciferase reporter assay and real-time quantitative PCR method. Results showed that the core promoter of A2M was found between the bases g.-2641 and g.-2479. Four novel SNPs (g.-724A>G, g.-665G>A, g.-535C>G and g.-520_-519insA) in the promoter region were completely linked. The activity of the mutant haplotype (GAGA) increased by 177% compared with that of the wild haplotype (AGC-). Bta-miR-2898 was upregulated by 6.25-fold in the mammary gland tissues of mastitis-infected cows compared with that of the healthy cows. One SNP (c.4659_4661delC) located in the 3'-untranslated region of the A2M gene may affect the binding affinity with the target bta-miR-2898. Five SNPs exhibited tight linkage. Association analysis showed that the milk somatic cell score for cows with the mutant haplotype (GAGA-) was lower than that for cows with the wild haplotype. Thus, the mutant type can be used as a potential functional marker for a mastitis resistance breeding program in dairy cows. Our findings provided the molecular basis for A2M transcriptional and post-transcriptional regulations. A close relationship between regulatory mutations and mastitis susceptibility of cows also was established.

Gunshot-caused Facial Injury Combined with Lower Cervical Spine Injury: A Case Report.

A 32-year old male patient was wounded by a pistol. As shown in computed tomography (CT) scanning images, there was comminuted fracture of the left mandible and the bullet was found in the left side behind the sixth cervical vertebra. After the patient was hospitalized, the debridement was done in the emergency room and the operation of open reduction and internal fixation for comminuted fracture of left mandible was performed successfully. Eighteen days later, the patient was taken to surgery for anterior cervical decompression and fusion with autogenous iliac bone grafting for the sixth cervical vertebra. Postoperative follow-up of the patient over two years indicated that the left biceps muscle strength was recovered to level 4. Gunshot wound to the face associated with injury of the low cervical spine has the possibility of survival. It is safe to treat facial wounds early in the patient's treatment course, even if the bullet remains in the cervical vertebral body and there is neurological function damage.

Morphological changes in amphibian and fish cell lines infected with Andrias davidianus ranavirus.

Andrias davidianus ranavirus (ADRV) is an emerging viral pathogen that causes severe disease in Chinese giant salamanders, the largest extant amphibian in the world. A fish cell line, Epithelioma papulosum cyprinid (EPC), and a new amphibian cell line, Chinese giant salamander spleen cell (GSSC), were infected with ADRV and observed by light and electron microscopy. The morphological changes in these two cell lines infected with ADRV were compared. Cytopathic effect (CPE) began with rounding of the cells, progressing to cell detachment in the cell monolayer, followed by cell lysis. Significant CPE was visualized as early as 24 h post infection (hpi) in EPC cells and at 36 hpi in GSSC cells. Microscopical examination showed clear and significant CPE in EPC cells, while less extensive and irregular CPE with some adherent cells remaining was observed in GSSC cells. Following ADRV infection, CPE became more extensive. Transmission electron micrographs showed many virus particles around cytoplasmic vacuoles, formed as crystalline arrays or scattered in the cytoplasm of infected cells. Infected cells showed alteration in nuclear morphology, with condensed and marginalized nuclear chromatin on the inner aspect of the nuclear membrane and formation of a cytoplasmic viromatrix adjacent to the nucleus in both cell lines. Some virus particles were also detected in the nucleus of infected GSSC cells. Both cell lines are able to support replication of ADRV and can therefore be used to investigate amphibian ranaviruses.

Nuclear pseudogenes of mitochondrial DNA as a variable part of the human genome.

Novel pseudogenes homologous to the mitochondrial (mt) 16S rRNA gene were detected via different approaches. Eight pseudogenes were sequenced. Copy number polymorphism of the mtDNA pseudogenes was observed among randomly chosen individuals, and even among siblings. A mtDNA pseudogene in the Y-chromosome was observed in a YAC clone carrying only repetitive sequence tag site (STS). PCR screening of human yeast artificial chromosome (YAC) libraries showed that there were at least 5.7 x 10(5) bp of the mtDNA pseudogenes in each haploid nuclear genome. Possible involvement of the mtDNA pseudogenes in the variable part of the human nuclear genome is discussed.

[Papillary microcancer of the thyroid]. / Microcancer papillaire de la thyroïde.

The aim of this study was to determine the outcome of patients operated for microscopic papillary cancer of the thyroid. Between 1962 to 1991, among 1103 patients operated for papillary thyroid carcinoma, 115 (11.5%) had a cancer with a diameter of 10 mm or less, no clinically detectable. 48 patients were diagnosed incidentally at the time of operation for other thyroid diseases, and 67 patients presented cervical lymph node metastases as the first sign. For patients diagnosed for other thyroid diseases, unilateral lobectomy with local neck dissection was performed in 35 cases, and in patients with cervical lymph node metastases unilateral lobectomy with locoregional neck dissection was performed in 56 cases. Mean overall follow-up was 12 years, and median follow-up time of 105 surviving patients was 10 years. 10-year survival rates were 100% in the patients diagnosed for other thyroid diseases, and 87% in patients with cervical lymph node metastases (P < 0.05). Out of 48 patients with no cervical lymph nodes, 44 were alive, and 4 died without recurrence or metastases. Out of the 67 patients with cervical lymph nodes, 5 died of the carcinoma. These results suggest that for patients diagnosed for other thyroid diseases, unilateral lobectomy with local neck dissection is sufficient, and for patients with cervical lymph node metastases unilateral lobectomy and locoregional neck dissection is necessary.

[Observations on the long-term immune effect on healthy children of inoculating HB vaccine and the effect of a booster dose].

This article reported the results of inoculating HB vaccine made in China into healthy children of O-1-2-month programme, under sero-epidemiological observation for 5 years. They showed that the highest peak of immunization was reached in the sixth month and then gradually diminished with the lapse of time until the 5th year when 74.1% of the immunized still had > or = 10 mIU/ml. That meant a good protective effect. Time of keeping anti-HBs had a direct bearing on the value of the highest period. According to the statistics it was told that. It took 6 years and 8 months for anti-HBs to fall below 10 mIU/ml. In the fifth year a booster lose was given with good response. An elevation of 12.1 times the previous immunizing level was observed, showing that a booster dose after 5 years of first dose of immunization was appropriate.

p21/waf1/cip1 and mdm-2 expression in breast carcinoma patients as related to prognosis.

p21/waf1/cip1 and mdm-2 are downstream effectors of p53. p21 plays a major role in negatively regulating cell-cycle progression, while mdm-2 inhibits p53 effects, and its role has been implicated in oncogenesis. In this study, we investigated the expression profiles of p21, mdm-2 and p53 in human breast-carcinoma tissues. The aim was to determine whether a correlation exists between the expression profiles of these markers and tumor differentiation, ER status and prognosis. We studied tumor specimens obtained from 106 patients and found a highly significant association among low histology grade, p53 over-expression, high mdm-2 expression and lack of p21 expression. Our studies also demonstrate that, in human breast cancer, low levels of p21 and higher mdm-2 levels directly correlate with the onset of lymph-node metastases and shortened patient survival. Furthermore, the expression profiles of p21, mdm-2 and p53 were independently correlated with patient survival.