De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+)

SCN1A is one of the most relevant epilepsy genes. In general, de novo severe mutations, such as truncating mutations, lead to a classic form of Dravet syndrome (DS), while missense mutations are associated with both DS and milder phenotypes within the GEFS+ spectrum, however, these phenotype‐genotype correlations are not entirely consistent. Case report. We report an 18‐year‐old woman with a history of recurrent febrile generalized tonic‐clonic seizures (GTCS) starting at age four months and afebrile asymmetric GTCS and episodes of arrest, suggestive of focal impaired awareness seizures, starting at nine months. Her psychomotor development was normal. Sequencing of SCN1A revealed a heterozygous de novo truncating mutation (c.5734C>T, p.Arg1912X) in exon 26. Conclusion. Truncating mutations in SCN1A may be associated with milder phenotypes within the GEFS+ spectrum. Accordingly, SCN1A gene testing should be performed as part of the assessment for sporadic patients with mild phenotypes that fit within the GEFS+ spectrum, since the finding of a mutation has diagnostic, therapeutic and genetic counselling implications.     

Extubación ultra fast-track vs. convencional tras cirugía cardiaca en un centro de referencia cardiovascular en Colombia. Estudio longitudinal

Introduction

The fast track / ultra-fast-track protocols are techniques used to optimise the patient care process and a quick recovery after cardiac surgery. They are one of the mainstays of efficient practice. With their use, the length of hospital and intensive care unit (ICU) stays are reduced, with a direct impact on costs and the quality of the health service.

Caries experience and fluorosis prevalence in Chilean children from different socio-economic status

Abstract Caries experience and enamel fluorosis prevalence in 8-year-old children belonging to different socio-economic classes were determined in two Chilean twin cities that are served by optimally fluoridated community water from the same waterworks facility. Low socio-economic status (LSES) children had a higher mean dm ft and DMFT indices (P<0.001) than high socioeconomic status (HSES) children. Prevalence of enamel fluorosis in the permanent teeth of LSES children was 0.79, significantly higher (X²= 9.0; P<0.003) than the value 0.59 found in HSES children. The proportion of Dean's scores 2. 3, 4 and 5 in first molars, mandibular and maxillary incisors in LSES children was higher than in HSES children (P<0.001). Differences in prevalence and seventy of enamel fluorosis between both groups are tentatively attributed lo a different pattern of tap water and tea consumption at pre-school ages. Suggestions are advanced to minimize the undesirable prevalence and severity of enamel fluorosis.     

采用直接血管成形术治疗的急性心肌梗死患者中入院心电图存在左束支、右束支与无束支传导阻滞的预后比较：来自多项急性心肌梗死直接血管成形术试验

急性心肌梗死患者出现束支传导阻滞（BBB）被认为与预后差有关。这种观点在血管成形术时代是否正确尚不清楚。本研究旨在评估采用直接血管成形术治疗的急性心肌梗死伴BBB患者的预后。评估了急性心肌梗死直接血管成形术试验中3053例接受急诊导管术的患者。将入院心电图存在左束支传导阻滞的患者（LBBB，n=48，1．6％）与右束支传导阻滞患者（RBBB，n=95，3．1％）或无BBB患者（n=2910，95．3％）进行比较。具有BBB的患者年龄较大，更多见糖尿病、外周血管疾病和曾行冠状动脉搭桥术，射血分数较低，多支血管病变多见。     

Melatonin reduces nitric oxide synthase activity in rat hypothalamus

Abstract: In this report, rat hypothalamic nitric oxide synthase (NOS) activity is shown to be partially inhibited by physiological concentrations of the pineal hormone melatonin. In vitro studies demonstrate that 1 nM melatonin, which approximates the physiological concentration of the hormone at night, significantly inhibited NOS activity. In vivo studies show that administering melatonin or collecting the hypothalamus from animals at night, when endogenous melatonin levels are elevated, results in a significant decrease of NOS activity. Results also show that calmodulin may be involved in this process since its presence in the incubation medium prevents the inhibitory effect of melatonin on NOS activity.     

HPV types in women with normal cervical cytology.

PCR-based hybridization methods have been used to show that some women with normal cytology are carriers of HPV DNA of the types strongly related to cervical cancer. How these women should be managed remains unclear. This chapter selectively reviews reports which have estimated type-specific HPV prevalence in relation to the presence or absence of morphological signs of HPV infection. Overall, these reports indicate that among women who were identified as carriers of HPV DNA (by PCR-based methods) and who also had a normal cytological smear, the HPV type detected in the majority of instances was a high-risk viral type for cervical cancer (HPV types 16/18 = 44.7%; HPV types 31/33/35 = 8.1%; other and unknown types = 37.9%). This suggests that screening programmes which include PCR-based HPV detection could reduce the false negative rates currently reported by screening programmes based on cytology alone.     

Degradation of extracellular matrix proteins (fibronectin, vitronectin and laminin) by serine-proteinases isolated from Lonomia achelous caterpillar hemolymph.

Lonomia achelous is a caterpillar distributed in southern Venezuela and in northern Brazil that causes an acute hemorrhagic syndrome in people who have contact with its bristles. The effect of the crude hemolymph and its chromatographic fractions (FDII, Lonomin V and Lonomin V-2) on extracellular matrix proteins was studied. The chromatographic fractions show activities similar to plasmin and urokinase. In sodium dodecyl sulfate-polyacrylamide gel electrophoresis, both lonomins appear as a protein band of 25 kDa under reduced conditions. By exclusion chromatography, the molecular weights of Lonomin V and Lonomin V-2 were 26.5 and 24.5 kDa, respectively. Fibronectin, laminin and vitronectin were degraded by all venom components. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis, under reduced conditions, shows that lonomins degrade fibronectin in four main fragments of 116, 60, 50 and 30 kDa. Molecular exclusion chromatography in native conditions shows that the molecular masses of these fragments are > or = 300, 62 and 27 kDa. The proteolytic effect of lonomins was abolished by benzamidine/HCl, iodoacetic acid and aprotinin. The extracellular matrix protein degradation together with the fibrino(geno)lytic activity of hemolymph and its fractions could explain, in part, the hemorrhagic syndrome, and the wound dehiscence in persons who have had contact with the L. achelous caterpillar.     

Hospital utilization and increasing old age in the user of care?]

Data are presented on hospital stay for the population 65 years-old and over, measured in percentage over the total for Spain, for the 1978 to 1988 period, by gender, for each province and autonomous region (Comunidad Autónoma). The country's total for the last available year was 35%. Except in Baleares and Murcia, the proportion of hospital stays increased in all Regions, especially in Navarra, where it increased from 23% to 51%. After adjusting for age, the increase in the proportion of hospital stays in the study population was due to an increase in utilization per person. The proportion, which was 13.3% in 1978, raised to 23.8% in 1988, with an adjusted value of 21.3%.