葛根素对血管性痴呆患者认知功能和事件相关电位P300的影响

目的观察葛根素对血管性痴呆（VaD）患者认知功能和听觉事件相关电位P300的影响。方法将70例VaD患者随机分成两组各35例，葛根素治疗组和对照组。应用简易精神状态检查量表（MMSE）评定两组患者治疗前后认知功能状况，并进行治疗前后P300检查。同时记录药物不良反应。结果两组各35例进入结果分析。治疗前两组MMSE评分、P300的潜伏期及波幅差异无显著性（均P〉0．05）。治疗14d、30d时，两组MMSE评分显著提高（均P〈0．01），P300潜伏期均有缩短，波幅均有提高（葛根素组P〈0．01，对照组P〈0．05）；治疗后14d时认知功能改善葛根素组明显优于对照组（总有效率分别为91．4％，71．4％）（P〈0．05）。两组治疗期间无严重不良反应。结论葛根素能够改善VaD患者的认知功能，这可能与葛根素的扩血管、脑保护作用有关。     

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

PurposeMissense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability.MethodsBy international collaboration, we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders. By western blotting, we investigated the consequences of missense variants in vitro.ResultsIn accordance with previous observations, de novo heterozygous missense variants in the BTB domain region led to a severe developmental and epileptic encephalopathy in 16 individuals. Now, we also identified de novo missense variants in the GTPase domain in 6 individuals with apparently more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences. Furthermore, we observed biallelic splice-site and truncating variants in 9 families with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well.ConclusionBy identifying genotype-phenotype correlations regarding location and consequences of de novo missense variants in RHOBTB2 and by identifying biallelic truncating variants, we further delineate and expand the molecular and clinical spectrum of RHOBTB2-related phenotypes, including both autosomal dominant and recessive neurodevelopmental disorders.     

Adverse Events After Initiating Angiotensin-Converting Enzyme Inhibitor/Angiotensin II Receptor Blocker Therapy in Individuals with Heart Failure and Multimorbidity

BackgroundCurrent clinical practice guidelines recommend routine kidney function and serum potassium testing within 30 days of initiating angiotensin-converting enzyme inhibitor (ACEI) or angiotensin II receptor blocker (ARB) therapy. However, evidence is lacking on whether routine follow-up testing reduces therapy-related adverse events in adults with heart failure and if multimorbidity influences the association between laboratory testing and these adverse events.MethodsWe conducted a retrospective cohort study among adults with heart failure from 4 US integrated health care delivery systems. Multimorbidity was defined using counts of chronic conditions. Patients with outpatient serum creatinine and potassium tests in the 30 days after starting ACEI or ARB therapy were matched 1:1 to patients without follow-up tests. We evaluated the association of follow-up testing with 30-day all-cause mortality and hospitalization with acute kidney injury or hyperkalemia using Cox regression.ResultsWe identified 3629 matched adults with heart failure initiating ACEI or ARB therapy between January 1, 2005, and December 31, 2012. Follow-up testing was not significantly associated with 30-day all-cause mortality (adjusted hazard ratio [aHR] 0.45, 95% confidence interval [CI] 0.14; 1.39) and hospitalization with hyperkalemia (aHR 0.73, 95% CI, 0.33; 1.61). However, follow-up testing was significantly associated with hospitalization with acute kidney injury (aHR, 1.40, 95% CI, 1.01; 1.94). Interaction between multimorbidity burden and follow-up testing was not statistically significant in any of the outcome models examined.ConclusionsRoutine laboratory monitoring after ACEI or ARB therapy initiation was not associated with risk of 30-day all-cause mortality or hospitalization with hyperkalemia across the spectrum of multimorbidity burden in a cohort of patients with heart failure.     

Lien prénatal et effet du vécu de la surprotection maternelle sur son développement

ObjectivesExplore the relationship between the recalled bond of pregnant women to their own mothers and the development of prenatal attachment.MethodsWomen with a single-fetal pregnancy who consulted the outpatient service of the maternity “C” ward of the center of maternity and neonatology of Tunis and had perceived fetal movements were included. Maternal-fetal attachment was assessed by the Prenatal Attachment Inventory (PAI), and the Parental Bonding Instrument (PBI) was used to evaluate experienced bond to mother. Socio demographic and clinical data were collected on a pre-established form.ResultsEighty respondents were retained from 95 recruited pregnant women. Their ages ranged from 19 to 44 with an average of 32 years. The rate of primiparity was of 28.7 % and half of pregnancies were identified at risk. The mean score of PAI was 55.3 (ET = 10.79). Means scores of PBI “care” dimension and “overprotection” dimension were respectively of 26.26 (ET = 5.82) and 17 (ET = 6.38). The four types of maternal bonding according to the PBI scores were distributed as follow: affectionate constraint (31.3 %), affectionless control (35 %), optimal bonding (21.3 %) and weak bonding (12.5 %). The two PBI dimensions “care” and “overprotection” were significantly and negatively correlated (P < 0.05). The PAI scores were not correlated with the PBI “care” dimension scores but were significantly and negatively correlated with the “overprotection” dimension scores (P < 0.,01). In order to better explore this association, the “overprotection” dimension scores were studied according to the 21 items of the PAI. A negative and significant correlation was found only with three of the PAI items: item 12 (P < 0;01), 15, and 20 (P < 0;05).ConclusionsOur findings suggest that pregnant women whose mothers showed more overprotective and controlling behaviors could be at risk of developing a weak maternofetal attachment. Further research is needed.     

Validation de l’échelle d’évaluation du vécu de l’accouchement (QEVA) auprès d’une population française

BackgroundA woman's negative perception of her subjective childbirth experience can have consequences on the mother's psychological state and on early mother–baby relationships. To date, there is no validated tool in France allowing to evaluate childbirth experience in a multidimensional way. The aim of this study is to validate the Questionnaire Assessing the Childbirth Experience (QEVA) in a French sample of mothers. This tool was developed in a previous study where the authors combined 25 items into 6 dimensions: representations and expectations, sensory perceptions, feeling of control, perceived social support (medical staff and partner), emotions (positive and negative) and first moments with the baby.MethodsThe sample included 256 women recruited in a maternity ward. Sociodemographic and obstetric characteristics of our sample were compared to those of the French national perinatal survey. The structure of the QEVA with 17 items was explored by an exploratory structural equation modeling (ESEM). An analysis of the internal consistency was conducted on the sub-scores of the identified factors, and the concurrent validity was assessed with the Peri-traumatic Distress Inventory (PDI) through a correlation and its associated t-test.ResultsThe characteristics of our sample and those of the national perinatal survey do not differ on age, marital status, parity, cannabis use, infertility treatment, epidural and baby weight, in favour of the good representativeness of our sample. The study of the QEVA structure revealed a 4-dimensional structure. Analysis of the psychometric qualities showed a good internal consistency, with an observed alpha value ranging from 0.69 to 0.86. The QEVA also shows a good concurrent validity with the peri-traumatic distress scores (r = 0.51).ConclusionTo date, the QEVA is the first standardized tool allowing a multidimensional evaluation of the subjective experience of childbirth. It has been validated on a French population using an exploratory structural equation modeling. This tool, which is simple to use and well accepted by mothers, enables health professionals not only to screen mothers experiencing difficult childbirth and in need of support, but also to adapt health care according to the dimensions of the birth experience and its associated difficulties (emotions during the birth, interactions with health professionals, first moments with the baby, or post-partum emotions).