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Therapeutic evaluation and also metabolic reprograming involving isosteviol sea salt in a rat style of ischemic cardiomyopathy.
INTRODUCTION To investigate the safety of balloon catheter for cervical ripening in women with term pre-labor rupture of membranes (PROM) and to compare the incidence of maternal and neonatal infections in women with PROM and women with intact membranes undergoing cervical ripening with a balloon catheter. MATERIAL AND METHODS This retrospective cohort study of 1923 women with term singleton pregnancy and an unfavorable cervix undergoing cervical ripening with a balloon catheter was conducted in Helsinki University Hospital between January 2014 and December 2018. For each case of PROM, two controls were assigned. The main outcome measures were the rates of maternal and neonatal infections. Statistical analyses were performed by SPSS. RESULTS In all, 641 (33.3%) women following PROM and 1282 (66.6%) women with intact amniotic membranes underwent labor induction. The rates of intrapartum infection (3.7% vs 7.7%; P = .001) and neonatal infection (1.7% vs 3.8%; P = .01) were not increased in women induced by balloon catheter following PROM. Intrapartum infections were associated with nulliparity (odds ratio [OR] 3.3, 95% confidence interval [CI] 1.6-6.5), history of previous cesarean section (OR 2.8, 95% CI 1.2-6.4), extended gestational age ≥41 weeks (OR 1.9, 95% CI 1.2-3.0) and an induction to delivery interval of 48 hours or more (OR 2.0, 95% CI 1.2-3.3). The risk of neonatal infection was associated with nulliparity (OR 3.3, 95% CI 1.4-8.0), gestational age ≥41 weeks (OR 1.9, 95% CI 1.09-3.36) and induction to delivery interval of 48 hours or more (OR 3.4, 95% CI 1.9-6.0). CONCLUSIONS Use of balloon catheter in women with term PROM appears safe and was not associated with increased maternal or neonatal infectious morbidity. © 2020 Nordic Federation of Societies of Obstetrics and Gynecology (NFOG). Published by John Wiley & Sons Ltd.INTRODUCTION The Israeli population, encompassing 9 million citizens, is comprised of diverse communities. The Ministry of Health genetic screening program for reproductive purposes was introduced in 2013. This program is mainly aimed at severe incurable diseases with high rates of infant and childhood morbidity and/or mortality, with a carrier frequency of at least 160 and/or a disease frequency of 1 in 15 000 live births. In this paper, we present the results of the national genetic carrier-screening program implementation. MATERIAL AND METHODS Data acquisition for this study was performed by retrospectively searching Ministry of Health database, which includes the reports of 18 genetic laboratories performing genetic screening tests. RESULTS During 2015-2017, a total of 919 820 carrier-screening genetic tests were executed. The overall number rose by 14.9% over these years. For about two-thirds of the presented disorders, carrier frequency was within the expected range. A decrease of 57% was noted in the oocieties of Obstetrics and Gynecology (NFOG). Published by John Wiley & Sons Ltd.INTRODUCTION Huntington's Disease (HD) is a neurodegenerative disorder of which the main symptoms are motor, cognitive and behavioural problems sometimes including sexual dysfunction. AIM To review the current knowledge on sexual dysfunction in HD. METHODS Databases of Pubmed and Scopus were searched. Only original studies performed after 1994 were included (from 1994 a genetic test = proven diagnosis). RESULTS 162 publications were found, but only nine met our established criteria. NSC 640488 The majority of patients with HD suffer from sexual disorders. The most common are hypoactive sexual disorder (53-83% of patients), hyperactive sexual disorder (6-30%), erectile (48-74%) and ejaculatory dysfunctions (30-65%), lubrication problems (53-83%), and orgasmic dysfunction (35-78%). DISCUSSION Results may be biased for several reasons e.g. social taboos regarding sex lives, medications that affect sexual function, impaired self-awareness of patients, small study samples, a lack of standardised questionnaires, and a focus only on the presence of sexual problems without describing them. CONCLUSIONS Sexual disorders in HD are common. This is a problem that is probably underestimated, both by patients/caregivers and physicians, who should focus more on these symptoms in order to improve patient quality of life.AIM OF THE STUDY We investigated whether the time elapsed between stroke onset and groin puncture (SO-GP) affects the rate of recanalisation as measured by the Thrombolysis in Cerebral Infarction (TICI) scale. CLINICAL RATIONALE FOR THE STUDY There is no doubt that the effectiveness of thrombolysis in acute ischaemic stroke (AIS) is time-dependent. There is growing evidence that there is a correlation between SO-GP time and rate of recanalisation in patients treated by mechanical thrombectomy (MT). MATERIALS AND METHODS This study was performed in patients treated in the Comprehensive Stroke Centre in Krakow that covers 3.5 million inhabitants. The following data was collected for this study demographics, stroke risk factors, transportation (directly from home or via another hospital), admission NIHSS, IV rt-PA administration prior to MT, the number of passes used during MT, and SO-GP time. link2 The favourable outcome measure was TICI 2b or 3. RESULTS 223 patients (48.4% females; mean age 66.0 ± 16.6 years) with anterior circulation strokes were treated by MT; 64.6% arrived directly from home. Mean admission NIHSS was 15.6 ± 5.3. IV rtPA was administered in 68.6% of patients. At least two thrombectomy passes were required in 20.6% of cases. Median SO-GP time was 240 minutes (IQR range 180-305 minutes). Grade 3 or 2b TICI scores were obtained in 70.4% of patients. Univariate logistic regression showed that among all studied parameters, only NIHSS affected the rate of recanalisation, but in a multivariate logistic regression model, the only parameter that affected the rate of recanalisation was the SO-GP time (OR = 0.76; 95% CI 0.60-0.98, p = 0.03). CONCLUSIONS AND CLINICAL IMPLICATIONS We suggest that SO-GP time affects the rate of recanalisation in patients with MT.OBJECTIVES Hereditary spastic paraplegias (HSPs) are a heterogenous group of rare neurodegenerative disorders that present with lower limb spasticity. It is known as complicated HSP if spasticity is accompanied by additional features such as cognitive impairment, cerebellar syndrome, thin corpus callosum, or neuropathy. Most HSP families show autosomal dominant (AD) inheritance. On the other hand, autosomal recessive (AR) cases are also common because of the high frequency of consanguineous marriages in our country. This study aimed to investigate the clinical and genetic aetiology in a group of HSP patients. PATIENTS AND METHODS We studied 21 patients from 17 families. Six of them presented with recessive inheritance. link3 All index patients were screened for ATL1 and SPAST gene mutations to determine the prevalence of the most frequent types of HSP in our cohort. Whole exome sequencing was performed for an AD-HSP family, in combination with homozygosity mapping for five selected AR-HSP families. RESULTS Two novel causative variants were identified in PLP1 and SPG11 genes, respectively. Distribution of HSP mutations in our AD patients was found to be similar to European populations. CONCLUSION Our genetic studies confirmed that clinical analysis can be misleading when defining HSP subtypes. Genetic testing is an important tool for diagnosis and genetic counselling. However, in the majority of AR HSP cases, a genetic diagnosis is not possible.The aim of this study was to investigate the demographic and clinical characteristics of patients with multiple sclerosis (MS) diagnosed between 1986 and 2015. 333 patients with definite MS were divided into four subgroups according to the following diagnostic criteria Group A) Poser (n = 145), Group B) McDonald 2000 (n = 66), Group C) McDonald 2005 (n = 62), and Group D) McDonald 2010 (n = 60). We investigated 1) patient sex and age at diagnosis, 2) symptoms and number of relapses that prompted MS diagnosis, 3) time between first symptoms suggestive of MS and confirmed diagnosis, and 5) Expanded Disability Status Scale (EDSS) score at disease onset. The overall female-to-male ratio was 2.31, but in the subgroups it differed significantly (A - 1.9; B - 1.6; C - 4.7; D - 3.6). The mean age at diagnosis (in years) decreased from 39.6 ± 13.3 in Group A to 29.9 ± 9.3 in Group D, p less then 0.001. Pyramidal signs remained the most common manifestation regardless of the diagnostic criteria, although an increased trend of visual dysfunction was observed (A - 16%, B - 14%, C - 19%, D - 23,3%; A vs D, p less then 0.001). The number of relapses before diagnosis decreased from median 4.0 to 2.5 in Group A and Group D, p less then 0.001. Time from the first symptom to diagnosis shortened from 88.9 ± 80.2 months (Group A) to 33.6 ± 68.2 months (Group D), p less then 0.0001. Mean EDSS score at diagnosis also decreased A - 4.4 ± 2.3; B - 3.1 ± 1.7; C - 2.7 ± 1.3; D - 2.8 ± 1.4, p less then 0.001. Our study indicates significant differences in demographic and clinical characteristics of MS diagnosed according to the changing criteria.INTRODUCTION Marfan syndrome (MFS) and related connective tissue disorders (CTDs) are increasingly recognised. Genetic testing has greatly improved the diagnostic outcome/power over the last two decades. In this study we describe a multicentre cohort of adults with MFS and related CTDs, with a particular focus on results from genetic testing. METHODS All patients with MFS and related CTDs were identified from the databases of five centres in the canton of Zurich. Echocardiographic and clinical findings including systemic Marfan score, use of medication and genetic results were retrospectively analysed. MFS was diagnosed using the revised Ghent criteria (including FBN1 genetic testing if available); other CTDs (Loeys-Dietz syndrome) were diagnosed by genetic testing only. RESULTS A cohort of 103 patients were identified (62 index patients, 41 relatives of family members) 96 patients with MFS and 7 patients with other CTD, 54 males (52%), median age 23 years (range 1–75). The median systemic Marfan score was 5 fulfilling the revised Ghent criteria for MFS underwent genetic testing, often leading to or confirming the diagnosis of MFS. Other CTDs could be discriminated best by genetic testing. With respect to the diagnosis of MFS and related CTDs, the usefulness of the systemic score is limited, showing the importance of genetic testing, which enabled definitive diagnosis in 95% of tested patients. Patient education on medical treatment still has to be improved. (Trial registration no KEK-ZH-Nr. 2013-0241).AIMS OF THE STUDY Pneumothoraces after endoscopic retrograde cholangiopancreatography (ERCP) are an uncommon but potentially lethal complication. Little evidence is available on their epidemiology, diagnosis and therapy. We aimed to evaluate current practices and provide recommendations. METHOD We systematically reviewed articles from PubMed, Embase, OVID-Medline and the Cochrane Library. RESULTS Forty-four publications reported pneumothoraces after ERCP in 49 patients (74% females). Twenty-one patients (43%) had atypical gastrointestinal anatomy, including peri-ampullary diverticula (n = 8), surgical or endoscopic alterations (n = 7), local tumours (n = 3), ulcerations (n = 2) and ectopic papilla (n = 1). Precut (14%) or standard (39%) sphincterotomies were performed. Cannulation was unsuccessful in six ERCPs. Pneumothoraces occurred bilaterally (45%), on the right (37%) or left side (6%), or no side was stated (12%). Nineteen tension pneumothoraces occurred. Perforations were mainly caused by the sphincterotome, peri-ampullary (41%), or the endoscope, distant from the papilla of Vater (23%).
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