A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

Mulibrey nanism is a rare autosomal-recessive disorder characterized by prenatal onset severe growth retardation and pericardial constriction associated with abnormalities of muscle, liver, brain and eye. More than 80% of previously reported patients are of Finnish origin in whom a founder mutation in the TRIM37 gene have been described. We report on a 7-year-old Turkish boy who presented with classical phenotypic features of mulibrey nanism. Mutation screening of the TRIM37 gene revealed that the proband had a homozygous two base pair deletion, c.1894_1895delGA, resulting in a frame-shift and a premature termination codon. Our proband is one of the rare examples of mulibrey nanism outside Finland and extends the mutation spectrum in this disorder.     

前胡丙素与硝苯啶对大鼠工作心脏缺血再灌注损伤的保护作用

大鼠ip前胡丙素(Pra-C 15 mg/kg,bid×3d)和硝苯啶(Nif 60μg/kg,bid×3d),使离体缺血再灌注工作心脏的收缩(AP,LVSP,+dP/dt_max)舒张(-dP/dt_max LVEDP和T值)性能在35min时得到改善,尤以舒张性能改善明显,并能促进CO,CF,SV及HR恢复,改善心脏工作效率,减少CK释放和心肌线粒体钙含量,表明Pra-C和Nif对心肌缺血都有保护作用,Pra-C的效应与Nif相近。     

The accuracy of ultrasound evaluation in foot and ankle trauma

ObjectivesFoot and ankle injuries that result in sprains or fractures are commonly encountered at the emergency department. The purpose of the present study is to find out the accuracy of ultrasound (US) scanning in injuries in the aforementioned areas.MethodsOttawa Ankle Rules–positive patients older than 16 years who presented to the emergency department with foot or ankle injuries were eligible. For all patients, US evaluation of the whole foot and ankle was performed by an emergency physician before radiographic imaging. All radiographic images were evaluated by an orthopedic specialist and compared with the interpretations of the US.ResultsOne hundred thirty-one patients were included in the study. Radiographic evaluation enabled the determination of fractures in 20 patients, and all of these were identified with US imaging. Moreover, US evaluation radiographically detected a silent ankle fracture in 1 patient. The sensitivity of US scanning in detecting fractures was 100% (95% confidence interval [CI], 83.8-100), the specificity was 99.1% (95% CI, 95-99.8), the positive predictive value was 95.2% (95% CI, 89.6-98), and the negative predictive value was 100% (95% CI, 96.4-100), respectively. The most common fractures were detected at the lateral malleolus and at the basis of the fifth metatarsal.ConclusionsUltrasound imaging permits the evaluation of foot and ankle fractures. Because it is a highly sensitive technique, US can be performed in the emergency department with confidence.     

Detection of chimeric BCR-ABL genes on bone marrow samples and blood smears in chronic myeloid and acute lymphoblastic leukemia by in situ hybridization

The presence of BCR-ABL fusion genes has important diagnostic and prognostic implications in chronic myeloid leukemia (CML) and acute lymphoblastic leukemia (ALL). The CML-specific chimeric BCR-ABL gene with a break involving the major breakpoint cluster region (M-bcr) of the BCR-gene has been detected by means of fluorescence in situ hybridization (FISH). In this study, we present a FISH protocol that allows the detection of breaks in both the major and the minor breakpoint cluster region (m-bcr). Three hybridization signals of D107F9, a yeast artificial chromosome (YAC)-derived probe spanning the breakpoint regions of the BCR gene, were indicative of the translocation events. To increase the specificity further, this probe was combined with cos-abl 8, a cosmid probe flanking the breakpoint within the ABL gene for dual-color hybridization. Samples of 21 patients with CML, the ALL-derived cell line SUP-B15, and of seven patients with Philadelphia chromosome (Ph1)-positive ALL (three of them with breakpoints within m-bcr) were examined. BCR-ABL fusion was detected in all cases with high specificity (false-positive nuclei: mean, 0.1%). On cytogenetic preparations, the percentages of BCR-ABL- positive interphase cells ranged from 53% to 91%. Comparable efficiencies were achieved on blood smears. In conclusion, hybridization with D107F9 and cos-abl 8 allows unambiguous diagnosis of BCR-ABL genes and is likely to become an important tool for the monitoring of therapies in patients with CML and ALL.     

A Chryseobacterium meningosepticum outbreak observed in 3 clusters involving both neonatal and non-neonatal pediatric patients

Three clusters of Chryseobacterium meningosepticum infections in a tertiary health center in July 2006 and January 2007 involving 8 newborns and 5 older children were investigated. The index patient was from the neonatal intensive care unit, and the older patients were from other pediatric wards. Cultures were obtained from the environment and from health care workers' hands as part of an outbreak investigation. C meningosepticum was isolated from hand cultures obtained from a senior resident and from environmental cultures obtained from powdered infant formula, an electrical button, a computer keyboard, phone, a doorknob, and an Ambu bag. Antibiogram typing and enterobacterial repetitive intergenic consensus sequence polymerase chain reaction indicated that all of the isolates were epidemiologically related. Nine patients improved on antimicrobial treatment, and 4 premature infants died after the infection. C meningosepticum is a well-known etiologic agent for nosocomial infections involving newborns and immunocompromised patients. Wet and dry environmental surfaces and equipment may act as a source or play a role in disseminating the microorganism. Outbreaks may be controlled with strong emphasis on infection control measures.     

Avaliação de Padrões Pressóricos Dipper e Não-Dipper e Qualidade de Vida entre Pacientes com Doença Pulmonar Obstrutiva Crônica

BackgroundNon-dipper blood pressure is defined by less than a 10% reduction in nighttime blood pressure, and it is associated with cardiovascular disease. Inflammation is thought to play a role in the pathogenesis of both chronic obstructive pulmonary disease (COPD) and non-dipper blood pressure pattern, and both diseases are associated with lower quality of life.ObjectiveThe aim of this study was to investigate the effects of non-dipper blood pressure pattern in patients with COPD.MethodsA cross-sectional study was carried out with 142 patients with COPD. The Saint George Respiratory Questionnaire and the Euro Quality of Life Scale were used to collect data. To understand arterial stiffness, the augmentation index and pulse wave velocity were measured, and 24-hour ambulatory blood pressure monitoring was subsequently performed. A multivariable logistic regression model was used to understand the relationship between different independent variables and blood pressure pattern. P values lower than 0.05 were considered statistically significant.ResultsAs a result, 76.1% (n = 108) of the patients had non-dipper blood pressure pattern. Non-dipper patients had higher C-reactive protein (OR:1.123; 95% CI:1.016;1.242), augmentation index (OR: 1.057; 95% CI: 1.011;1.105) and Saint George Respiratory Questionnaire total score (OR: 1.021; 95% CI: 1.001;1.042) than dipper patients. Also, as the number of people living at home increased, non-dipper blood pressure pattern was found to be more frequent (OR: 1.339; 95% CI: 1.009;1.777).ConclusionNon-dipper blood pressure pattern may increase cardiovascular risk by triggering inflammation and may adversely affect the prognosis of COPD by lowering the disease-related quality of life. (Arq Bras Cardiol. 2020; [online].ahead print, PP.0-0)     

May maternal anti-mullerian hormone levels predict adverse maternal and perinatal outcomes in preeclampsia?

Background: Prediction of preeclampsia and adverse maternal and perinatal outcomes with biomarkers has been proposed previously. Anti-mullerian hormone (AMH) is a growth factor, which is primarily responsible of the regression of the mullerian duct, but also used to predict ovarian reserve and decreases with age similar to the fertility.

Aim: To evaluate the predictive role of maternal anti-mullerian hormone (mAMH) in adverse maternal and perinatal outcomes in preeclampsia.

Methods: This prospective case-control study was conducted at current high-risk pregnancy department in a tertiary research hospital and 45 cases with preeclampsia classified as study group and 42 as control group. Data collected and evaluated were; age, body mass index (BMI), marriage duration (MD), gestational weeks (GW), gravidity, parity, mode of delivery, birth weight, newborn Apgar score, newborn gender, maternal complication, perinatal outcome, some laboratory parameters and mAMH. The association between mAMH levels and maternal and fetal outcomes were evaluated.

Results: There were no statistically significant differences between groups in terms of age, BMI, MD, gravidity, parity and newborn gender (p?>?0.05). GW, vaginal delivery, birth weight, newborn Apgar score, were statistically significantly lower in preeclamptic patients when compared with non-preeclamptic patients (p?<?0.001). Adverse maternal and perinatal outcomes were statistically significantly higher in the study group (p?<?0.001). The laboratory values [alanine transaminase (ALT), aspartate transaminase (AST), blood urea nitrogen (BUN), creatinine, lactic dehydrogenase (LDH), uric acid and fibrinogen) were statistically significantly lower in the control group (p?<?0.001). The mAMH level was significantly lower in the preeclamptic group (p: 0.035). There was no correlation between mAMH levels and demographic and clinical parameters. The area under the ROC curve (AUC) was 0.590 and the cut-off value was 0.365?ng/ml with sensitivity of 67.4% and specificity of 47.1% for mAMH. Logistic regression analysis showed a statistically insignificance between mAMH and maternal complication and perinatal outcome (p: 0.149).

Conclusion: According to this study, mAMH level was lower in preeclamptic patients than in normal pregnants, and is found to be a discriminative factor with low sensitivity and specificity. There was no relationship between mAMH and adverse maternal and perinatal outcomes. Further randomized controlled studies with more participants are needed to evaluate the accurate effects of mAMH levels on preeclampsia and should increase the power of mAMH levels in predicting the preeclampsia.