Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9

FANCG was the third Faconi anaemia gene identified and proved to be identical to the previously cloned XRCC9 gene. We present the pathogenic mutations and sequence variants we have so far identified in a panel of FA-G patients. Mutation screening was performed by PCR, single strand conformational polymorphism analysis and protein truncation tests. Altogether 18 mutations have been determined in 20 families - 97% of all expected mutant alleles. All mutation types have been found, with the exception of large deletions, the large majority is predicted to lead to shortened proteins. One stop codon mutation, E105X, has been found in several German patients and this founder mutation accounts for 44% of the mutant FANCG alleles in German FA-G patients. Comparison of clinical phenotypes shows that patients homozygous for this mutation have an earlier onset of the haematological disorder than most other FA-G patients. The mouse Fancg sequence was established in order to evaluate missense mutations. A putative missense mutation, L71P, in a possible leucine zipper motif may affect FANCG binding of FANCA and seems to be associated with a milder clinical phenotype.     

The interaction of the diltiazem with oral and intravenous cyclosporine in rats.

This study investigated the effect of diltiazem on the bioavailability of oral and intravenous cyclosporine (CsA) in rats. While control rats received normal saline, experimental groups received 60 or 90 mg/kg diltiazem orally for 3 days. Each group divided into 2 equal groups that received a single oral dose or i.v. injection of CsA. Pharmacokinetic parameters were analyzed by nonparametric analysis of variance. Pretreatment with 60 or 90 mg/kg diltiazem decreased the area under the blood CsA concentration-time curve (AUC) of oral CsA compared to control group (54.5% and 65.5% for AUC(0-24), 57.6% and 62.2% for AUC(0-infinity), respectively, p<0.05). Mean CsA maximum concentration (Cmax) decreased from 0.4 +/- 0.1 microg/ml to 0.1 +/- 0.0 microg/mL in rats pretreated with 90 mg/kg diltiazem (p<0.05). The absolute bioavailability after oral administration (F(p.o.)) in the 60 or 90 mg/kg diltiazem groups were lower than the control group (9.6% and 8.5% versus 22.6%). Pretreatment with 90 mg/kg but not 60 mg/kg of diltiazem increased the AUC(0-infinity), elimination half-life (t1/2) of intravenous CsA (116.0%, 219.2%, respectively, p<0.05) and decreased the intravenous CsA clearence (CL(i.v.)) (62.9%, p<0.05). Diltiazem decreased the bioavailability of oral CsA, while it increased the bioavailability of intravenous CsA. One must consider this interaction when administering oral or intravenous CsA concomitantly with diltiazem.     

A Case of Distal Vaginal Agenesis Presenting with Recurrent Urinary Tract Infection and Pyuria in a Prepubertal Girl

Background

Isolated distal vaginal agenesis is a rare anomaly and mostly becomes symptomatic after menarche. We describe an unusual presentation of this anomaly in a prepubertal girl.

Composition,antimicrobial activity and in vitro cytotoxicity of essential oil from Cinnamomum zeylanicum Blume (Lauraceae)

The essential oil from the bark of Cinnamomum zeylanicum Blume was analyzed by GC–MS and bioassays were carried out. Nine constituents representing 99.24% of the oil were identified by GC–MS. The major compounds in the oil were (E)-cinnamaldehyde (68.95%), benzaldehyde (9.94%) and (E)-cinnamyl acetate (7.44%). The antimicrobial activity of the oil was investigated in order to evaluate its efficacy against 21 bacteria and 4 Candida species, using disc diffusion and minimum inhibitory concentration methods. The essential oil showed strong antimicrobial activity against all microorganisms tested. The cytotoxic and apoptotic effects of the essential oil on ras active (5RP7) and normal (F2408) fibroblasts were examined by MTT assay and acridine orange/ethidium bromide staining, respectively. The cytotoxicity of the oil was quite strong with IC₅₀ values less than 20 μg/mL for both cell lines. 5RP7 cells were affected stronger than normal cells. Morphological observation of apoptotic cells indicated the induction of apoptosis at the high level of the oil, especially in 5RP7 cells. The present study showed the potential antimicrobial and anticarcinogenic properties of the essential oil of cinnamon bark, indicating the possibilities of its potential use in the formula of natural remedies for the topical treatment of infections and neoplasms.     

Endometrioid carcinoma of the endometrium with choriocarcinomatous differentiation: a case report and review of the literature

OBJECTIVE: An endometrioid adenocarcinoma (EAC) with true trophoblastic differentiation is a rare event with a highly aggressive clinical course. CASE: We report an endometrioid adenocarcinoma of the endometrium in which there was a morphologically conventional-appearing EAC component admixed with multinucleated giant cells and large pleomorphic tumor cells that resembled a choriocarcinoma without an elevated serum level of human chorionic gonadotropin (hCG) in a 42-year-old unmarried woman with a history of abnormal uterine bleeding. A total abdominal hysterectomy, bilateral salpingo-oophorectomy, and pelvic lymph node dissection were performed. Histopathologic study of the specimen showed endometrioid adenocarcinoma extended to the deep myometrium with a focus of hemorrhagic and necrotic tumor composed of multinucleated giant cells, large pleomorphic tumor cells, suggesting choriocarcinomatous differentiation (CD). Immunohistochemical studies demonstrated intense reactivity of tumor cells for human chorionic gonadotropin (hCG) confirming the diagnosis. A complete clinical workup ruled out metastatic spread to the brain, lungs, skeleton, or abdomen. The patient was alive with no evidence of disease 6 months later. CONCLUSION: Although endometrioid adenocarcinoma with choriocarcinomatous differentiation is known to behave in a more aggressive course, this disease may have a good prognosis with a clinically indolent course when it is small, and without elevated serum hCG levels.     

Left ventricular remodeling and aortic distensibility in elite power athletes

The aim of this study was to determine left ventricular (LV) morphology and aortic function in power athletes and to compare them with normal subjects. Thirty-two elite male wrestlers and 15 age-matched healthy male controls were included. All subjects underwent echocardiographic examination. Measurements included LV cavity dimension at systole and diastole, wall thickness, diastolic parameters, and aortic diameter, 3cm above aortic valve, at systole and diastole. Left ventricular mass and mass index were found to be higher in the athletes than in control subjects. The aortic distensibility index was found to be reduced in the athletes compared with controls (2.53 ± 0.91 vs 3.94 ± 1.77cm²dyne^–1 10^–6, P = 0.003), while the aortic stiffness index was significantly higher in the athletes than in controls (9.12 ± 3.23 vs 6.65 ± 2.35, P = 0.02). However, LV end-systolic wall stress was lower in the athletes than in controls. Furthermore, transmitral early (E) and late (A) peak velocity, peak velocity of the myocardial systolic wave (S _m), and early (E _m) and atrial (A _m) diastolic waves at the inferior wall were higher in the athletes than in controls. Reduced aortic distensibility in elite power athletes may be one of the cardiovascular adaptation factors which affect LV hypertrophy.     

Pentraxin 3 concentrations of the mothers with preterm premature rupture of membranes and their neonates,and early neonatal outcome

Background: Pentraxin 3 (PTX3) is an acute phase reactant which has been used to detect intra-amniotic infections (IAI) in pregnancy, but the prognostic value of PTX3 concentrations on neonates has not been studied. We aimed to investigate the relationship between maternal PTX3–neonatal PTX3 concentrations and early neonatal outcome.

Methods: The mothers diagnosed with preterm prelabor rupture of membranes (PPROM) (n?=?28) and their preterm infants (n?=?28) were included in the study. PTX3 concentrations were studied in plasma in the maternal peripheral blood and umbilical/peripheral vein in the neonates. The relationship between the mPTX3–nPTX3 concentrations and neonatal outcome were investigated using non-parametric tests and binary logistic regression analysis.

Results: The mean mPTX3 concentration was 10.35?±?7.82?μg/L. Ten (35.7%) of all mothers were within the normal range and 18 (64.3%) in high percentile (≥97.5 percentile). There was no relation between mPTX3 concentrations and clinical or histologic chorioamnionitis, latency of PPROM, and early neonatal outcome. Mean nPTX3 concentrations was 9.18?±?7.83?μg/L and high nPTX3 concentrations were detected in five (17.8%) neonates. nPTX3 concentrations were inversely correlated with gestational age and correlated with rate of intraventricular hemorrhage (IVH) and mortality. Neonates with high nPTX3 concentrations also have lowered APGAR scores, increased rate of respiratory distress syndrome, clinical sepsis, IVH, necrotizing enterocolitis and prolonged NICU stay.

Conclusion: High PTX3 concentrations of the newborns are associated with some worsened early neonatal outcome including lower gestational age at delivery, increased rate of IVH and mortality. Maternal PTX3 concentrations are not an adequate marker in defining clinical or histologic chorioamnionitis and early neonatal outcome.     

Cone-beam computed tomography evaluation of impacted and transmigrated mandibular canines: a retrospective study

Oral Radiology - The purpose of this study is to evaluate CBCT images of impacted mandibular canines in detail and to discuss implications for diagnosis and treatment. CBCT images of dental...     

Factors affecting symptoms and functionality of patients with carpal tunnel syndrome: a retrospective study

[Purpose] The aim of this retrospective study was to determine the associations between clinical, physical, and neurophysiological outcomes and self-reported symptoms and functions of patients after surgical carpal tunnel release. [Subjects and Methods] Among 261 patients who had undergone open surgical carpal tunnel release within the last three years, 83 (mean age 50.27 ± 11.13 years) participated in this study. Their socio-demographics and comorbidities were recorded. The intensity of pain, paresthesia, and fatigue symptoms in the hand were assessed by means of a Visual Analogue Scale, the Semmes-Weinstein Monofilaments test of light touch pressure sensation, and Jamar dynamometry for measurement of grip and pinch strengths. The Boston Carpal Tunnel Questionnaire evaluated the severity of symptoms and hand functional status, and the variables were analyzed by multivariate linear regression. [Results] The severity of the symptoms and functional status of release surgery patients was associated with diabetes mellitus, migraine, night pain, paresthesia and fatigue symptoms, impaired light touch pressure, and lack of medical treatment. [Conclusion] Appropriate post-surgery treatment programs for these factors should be taken into consideration to help patients obtain optimal functionality and health in their daily lives.Key words: Carpal tunnel syndrome, Patient outcome assessment, Surgical therapy