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991.
《Brain & development》2022,44(3):244-248
BackgroundPyruvate dehydrogenase complex (PDHC) deficiency is an inborn error of metabolism that causes lactic acidosis and neurodevelopmental changes. Five causative genes have been identified: PDHA1, PDHB, DLAT, DLD, and PDHX. Four neurological phenotypes have been reported: neonatal encephalopathy with lactic acidosis, non-progressive infantile encephalopathy, Leigh syndrome, and relapsing ataxia. Of these, neonatal encephalopathy has the worst mortality and morbidity and there is no effective treatment.Subjects and methodsWe studied two girls who were clinically diagnosed with PDHC deficiency as neonates; they were subsequently found to have PDHA1 mutations. The clinical diagnosis was based on white matter loss and a lateral ventricular septum on fetal MRI, spasticity of the lower extremities, and lactic acidosis worsening after birth. Intravenous ketogenic diets were started within 24 h after birth. The ketogenic ratio was increased until the blood lactate level was controlled, while monitoring for side effects.ResultsIn both cases, the lactic acidosis improved immediately with no apparent side effects. Both children had better developmental outcomes than previously reported cases; neither exhibited epilepsy.ConclusionsIntravenous ketogenic diet therapy is a treatment option for neonatal-onset PDHC deficiency. Further studies are needed to optimize this therapy. 相似文献
992.
993.
Yannick Kabulo Kolela Maureen Klepper Geoffroy de Beco Thierry Sluysmans Alain Poncelet 《Congenital heart disease》2022,17(1):99-106
Arterial switch operation (ASO) is a complex neonatal operation in which transfer of the coronary arteries origins
is the key to success. Coronary events after a successful ASO are not uncommon. We describe a rare case of a
child who underwent an ASO in the neonatal period with one coronary (LAD) described as atretic left in place.
At age seven, he developed myocardial ischemia due to retrograde flow with a steal phenomenon from the LAD
into the pulmonary artery. The patient underwent a late LAD reimplantation. This case underscores that even
very small ostia should be translocated at the time of ASO. 相似文献
994.
目的:比较不同病理类型的肺部磨玻璃结节(GGO)患者术前中性粒细胞与淋巴细胞比率(NLR)、血小板与淋巴细胞比率(PLR)、淋巴细胞与单核细胞比率(LMR)和血清癌胚抗原(CEA)的差异及其临床意义。方法:收集接受手术治疗的494例患者的NLR、PLR、LMR,其中浸润性腺癌176例,微浸润性腺癌150例,腺体前驱病变117例,良性病变51例。仅收集到150例浸润性腺癌、127例微浸润性腺癌、95例腺体前驱病变和45例良性病变的血清CEA数值。分别比较各组之间的NLR、PLR、LMR、CEA。结果:腺体前驱病变组的NLR(2.32±1.59)较良性病变组(1.82±0.64)高(P<0.05)。肺腺癌组的PLR(141.19±53.14)、腺体前驱病变组的PLR(145.94±51.92)较良性病变组(124.90±37.04)高(均P<0.05)。肺腺癌组的CEA [1.83(1.18,
2.73)ng/mL]较腺体前驱病变+良性病变组 [1.49(1.03,2.08)ng/mL]高(P<0.01)。浸润性腺癌组的CEA [2.14(1.29,2.92)ng/mL]分别较微浸润性腺癌组 [1.67(1.09,2.43)ng/mL]、腺体前驱病变组 [1.46(1.03,2.06)ng/mL]、良性病变组 [1.53(1.00,2.10)ng/mL]高(P<0.05)。结论:全身免疫炎症指标在早期肺腺癌,甚至是腺体前驱病变阶段就开始发生变化,血清CEA在早期肺腺癌就开始发生变化。动态观察上述指标的变化,有利于早期发现恶性病变,从而尽早进行干预。 相似文献
995.
996.
《Sleep medicine》2020
Objective/BackgroundThe utility of the pictorial Epworth sleepiness scale (pESS) has been assessed by only a few studies in a clinical population. Some of its questions may be inappropriate in certain patient groups. The aim of this study was to assess the utility of the pESS in the adult Down syndrome (DS) population in the United Kingdom (UK).Patients/MethodsA modified sleep questionnaire including the pESS was administered to 5430 adults with DS living in the UK. Standard statistical analysis was undertaken.ResultsOf 1105 valid responses (20.35%), the pESS was incomplete in 129 (11.67%) cases. Of the incomplete responses, “Q1. Likelihood of dozing/falling sleep while sitting and reading?” was most frequently missed (63.6% of 129 responses).ConclusionsThe pESS may not be entirely appropriate in certain populations such as those with intellectual disability where literacy levels may be low. Question modification may be necessary.Clinical trial registration numberISRCTN55685305. 相似文献
997.
998.
目的:探索新产程模式下剖宫产和产钳术对持续性枕后位难产孕妇分娩结局的评估。方法:收集2017年至2020年间于浙江省湖州市妇幼保健院收住入院的103例持续性枕后位难产孕妇, 其中以产钳分娩的60例孕妇为研究组,53例以剖宫产术分娩的孕妇为对照组,评估其分娩结局,分析两种分娩方式对孕产妇的影响。采用χ2 检验比较剖宫产及产钳分娩两组的新生儿窒息、产后出血、产时、产后感染、软产道裂伤(包括会阴III度裂伤、阴道裂伤、宫颈裂伤)、切口预后不良的差异。结果:研究组产后出血、产时发热、产后发热发生率[分别为1.66%(1/60)、1.66%(1/60)、3.33%(2/60),χ2 值分别为(4.514 和5.698、4.826,P值分别为 0.040 和 0.020、0.030)],明显低于对照组[分别为11.32%(6/53)、13.20%(7/53)、15.09%(8/53)],但是研究组会阴III度裂伤、宫颈裂伤、阴道裂伤、发生率为分别为[15.00%(9/60)、13.33%(8/60))、(11.66%(7/60)),明显高于对照组(1.88%(1/53)、1.88%(1/53)、3.77%(2/53))],差异有统计学意义(P值均<0.05)。但研究组的新生儿窒息发生率及切口预后不良的比例分别为[5(8.33%)、4(6.66%)],略低于对照组[(6(11.32%)、4(7.54%)],差异无统计学意义(χ2值分别为0.286、0.233,P 值均>0.05)。结论:新产程标准下持续性枕后位难产孕妇选择产钳分娩可明显降低产时、产后感染及产后出血的发生率,但软产道裂伤发生率较高,差异有统计学意义。所以持续性枕后位难产孕妇选择产钳分娩是相对比较安全的分娩方式,但同时需要注意软产道裂伤的发生。 相似文献
999.
《Sleep medicine》2020
BackgroundTo date, no previous studies have evaluated the relationship between sleep duration and quality of life (QOL) or depression in the general population after controlling for daytime sleepiness and sleep disturbances.MethodsA web-based cross-sectional survey was conducted with 8698 subjects aged 20–69 years. We examined the relationships between weekday sleep duration and daytime sleepiness, sleep disturbance, QOL and depression, using the Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index (without the item for sleep duration), 8-item Short Form and Center for Epidemiological Studies Depression Scale (CES-D).ResultsDaytime sleepiness tended to increase in proportion to shorter weekday sleep durations. Sleep disturbances, physical and mental QOL, and CES-D scores were worse in both the shorter and longer sleep groups compared with the group with 7–8 h of sleep. Hierarchical logistic regression analyses revealed that short sleep duration but not long sleep duration was significantly associated with reduction of both physical and mental QOL, even after controlling for the presence of daytime sleepiness and sleep disturbance. Both short and long sleep duration were independently and significantly correlated with depression after controlling for daytime sleepiness; however, there was no statistically significant association after adjusting for the effects of sleep disturbance.ConclusionsThe results suggested adverse effects of short sleep but not long sleep on both physical and mental QOL. In addition, the negative impact of specific types of sleep disturbance on depression may be greater than the impact of shortening of sleep duration. 相似文献
1000.
IntroductionPrimary progressive apraxia of speech (PPAOS) is a neurodegenerative syndrome in which patients present with an isolated motor speech disorder. Some PPAOS patients develop parkinsonism and other features of progressive supranuclear palsy (PSP) and/or corticobasal syndrome (CBS) over time. We aimed to assess the evolution of parkinsonian characteristics in PPAOS patients who had been followed yearly for at least six years.MethodsFrom a large cohort of 46 PPAOS patients, eight were followed yearly for > 6-years in multiple NIH-funded grants. Parkinsonian and other features, including bradykinesia, tremor, rigidity, postural instability, apraxia, ocular motor function and cognition were assessed at each visit, and research criteria applied for PSP and CBS diagnosis. Neurological, speech-language test scores, and [18F]fluorodeoxyglucose PET (FDG-PET) and MRI midbrain volumes were assessed.ResultsA Parkinson's plus syndrome developed in all eight patients (100%). Bradykinesia was the earliest feature, followed by rigidity and postural instability. Tremor was not a significant feature. Parkinsonism, limb apraxia and ocular motor impairment tended to develop four-to-five years after onset with some patients having slight asymmetric parkinsonism. Six patients (75%) met research criteria for probable PSP, although only one for PSP-Richardson's syndrome; three patients met criteria for possible CBS. Slightly asymmetric, left-sided, hypometabolism was observed on FDG-PET, not matching asymmetry of Parkinsonism. Midbrain hypometabolism was absent-minimal. Three patients had progressive midbrain volumes in the PSP-Richardson's syndrome range.ConclusionsA Parkinson's plus syndrome may inevitably develop in PPAOS supporting PPAOS as an early presentation of a Parkinson's plus disorder. 相似文献