Sodium-channel defects in benign familial neonatal-infantile seizures

Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified. Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A. This clinico-molecular correlation defines a new benign familial epilepsy syndrome beginning in early infancy, an age at which seizure disorders frequently have a sombre prognosis.     

Visual disorders,the prosopometamorphopsia and prosopagnosia type in the early days after the onset of brain hemorrhagic stroke – a case report

Presented case report illustrates symptoms of prosopometamorphopsia (PM) and prosopagnosia, observed in the early days after the onset of a hemorrhagic stroke resulting from a complication of endovascular treatment of intracranial aneurysms and the use of anticoagulation therapy. PM is a visual disorder in which faces are perceived as distorted. The female patient described in the present study reported that faces she looked at seemed younger or older than in reality or as if they were dirty, swollen, or with a grimace. She also experienced symptoms of prosopagnosia, which is difficulty of recognizing familiar faces of people (e.g., of her husband and daughter). In the interview 6 months after the first examination, the patient reported spontaneous withdrawal of the visual disturbances.     

Diagnosis, Clinical Presentation, and In-Hospital Mortality of Severe Malaria in HIV-Coinfected Children and Adults in Mozambique

Background.?Severe falciparum malaria with human immunodeficiency virus (HIV) coinfection is common in settings with a high prevalence of both diseases, but there is little information on whether HIV affects the clinical presentation and outcome of severe malaria. Methods.?HIV status was assessed prospectively in hospitalized parasitemic adults and children with severe malaria in Beira, Mozambique, as part of a clinical trial comparing parenteral artesunate versus quinine (ISRCTN50258054). Clinical signs, comorbidity, complications, and disease outcome were compared according to HIV status. Results.?HIV-1 seroprevalence was 11% (74/655) in children under 15 years and 72% (49/68) in adults with severe malaria. Children with HIV coinfection presented with more severe acidosis, anemia, and respiratory distress, and higher peripheral blood parasitemia and plasma Plasmodium falciparum histidine-rich protein-2 (PfHRP2). During hospitalization, deterioration in coma score, convulsions, respiratory distress, and pneumonia were more common in HIV-coinfected children, and mortality was 26% (19/74) versus 9% (53/581) in uninfected children (P?相似文献   

Stigma as a barrier to health care utilization among female sex workers and men who have sex with men in Burkina Faso

Purpose

The aim of this study is to examine the prevalence and correlates of perceived health care stigma among female sex workers (FSWs) and men who have sex with men (MSM), including other stigma types, suicidal ideation, and participation in social activities.

Nursing and midwife staffing needs in maternity wards in Burkina Faso referral hospitals

Background

In 2006, Burkina Faso set up a policy to subsidize the cost of obstetric and neonatal emergency care. This policy has undoubtedly increased attendance at all levels of the health pyramid. The aim of this study was to measure the capacity of referral hospitals’ maternity services to cope with the demand for health services after the implementation of this policy.

Methods

This study was conducted in three referral health centres (CMAs, CHRs, and CHUs). The CHU Yalgado Ouédraogo (tertiary level) and the CMA in Sector 30 (primary level) were selected as health facilities in the capital, along with the Kaya CHR (secondary level). At each health facility, the study included official maternity ward staff only. We combined the two occupational categories (nurses and midwives) because they perform the same activities in these health facilities. We used the WISN method recommended by WHO to assess the availability of nurses and midwives.

Results

Nurses and midwives represented 38% of staff at the University Hospital, 65% in the CHR and 80% in the CMA. The number of nurses and midwives needed for carrying out the activities in the maternity ward in the University Hospital and the CMA is greater than the current workforce, with WISN ratio of 0.68 and 0.79 respectively. In the CHR, the current workforce is greater than the number required (WISN ratio = 2).This medical centre is known for performing a high number curative and preventive activities compared to the Kaya CHR. Like the CHU, the delivery room is a very busy unit. This activity requires more time and more staff compared to other activities.

Conclusion

This study showed a shortage of nurses and midwives in two health facilities in Ouagadougou, which confirms that there is considerable demand. At the Kaya CHR, there is currently enough staff to handle the workload in the maternity ward, which may indicate a need to expand the analysis to other health facilities to determine whether a redistribution of health human resources is warranted.

     

Utility of urine and serum lateral flow assays to determine the prevalence and predictors of cryptococcal antigenemia in HIV-positive outpatients beginning antiretroviral therapy in Mwanza,Tanzania

Background

Detection of subclinical cryptococcal disease using cryptococcal antigen screening among HIV-positive individuals presents a potential opportunity for prevention of both clinical disease and death if patients with detectable cryptococcal antigen are identified and treated pre-emptively. Recently developed point-of-care cryptococcal antigen tests may be useful for screening, particularly in resource-limiting settings, but few studies have assessed their utility.

Methodology

The objectives of this study were to determine the prevalence and factors associated with cryptococcal antigenemia in HIV-positive patients with CD4⁺ T-cell counts ≤200 cells/µL who were initiating ART, and also to evaluate the utility of the point-of-care urine lateral flow assay (LFA) cryptococcal antigen test using two different diluents, compared to gold standard serum antigen testing, as a screening tool. Urine and serum of outpatients initiating antiretroviral therapy at two hospitals in Mwanza were tested for cryptococcal antigen, and demographic and clinical characteristics were obtained using structured questionnaires and patients’ files. Patients with asymptomatic cryptococcal antigenemia received oral fluconazole in accordance with World Health Organization recommendations.

Results

Among 140 patients screened, 10 (7.1%) had asymptomatic cryptococcal antigenemia with a positive serum cryptococcal antigen. Four of these ten patients had CD4 counts between 100 and 200 cells/µL. The prevalence of cryptococcal antigen detected in urine using a standard (older) and a test (newer) diluent were 44 (31.4%) and 19 (13.6%), with Kappa coefficients compared to serum of 0.28 and 0.51 (p<0.001 for both). Compared to the new LFA diluent for urine cryptococcal antigen, the standard diluent had higher sensitivity (100% versus 80%) but lower specificity (74% versus 92%) using serum cryptococcal antigen as a gold standard.

Conclusions

Our findings suggest that HIV-positive outpatients with CD4 counts <200 cells/µL, rather than 100, should be screened for asymptomatic cryptococcal antigenemia given its association with mortality if untreated. Agreement of the urine LFA with the serum LFA was not sufficient to recommend routine screening with urine LFA.     

Motor variant of the unilateral neglect syndrome as a consequence of brain injury

Motor neglect is characterized by underutilization of one side of the body when this failure cannot be attributed to primary sensory and motor defects. Impaired motor activity manifests itself in disturbance of using spontaneously contralesional limbs in the absence of severe hemiplegia (motor neglect) or in reduced readiness to initiate and carry out intact ipsilesional arm movements within or towards the contralesional hemispace (pre-motor neglect). These specific higher-order motor deficits may occur in isolation (pure motor neglect) or as part of a more pervasive neglect syndrome involving disturbances in visual, auditory, and tactile modalities or even in mental images. The lesions underlying the motor variant of hemi-neglect are ascribed to various topographic sites of the brain involving cortical and subcortical structures of the right or, rarely, the left hemisphere. Motor features of neglect are more frequent, more severe and long-lasting in right--as compared with left--brain-damaged patients. This deficit additionally makes improvement and neurorehabilitation of patients with focal brain damage difficult.     

Self-rated emotional functioning of patients with neurological or asymptomatic form of Wilson's disease

Psychopathology was assessed in 50 patients with the neurological form of Wilson's disease (WD-N) and in 17 asymptomatic patients (WD-A) compared to matched healthy controls and to rheumatoid arthritis (RA) control patients using The Hopkins Symptom Checklist. As hypothesized, WD-N patients had significantly lower interpersonal sensitivity and aggression/hostility scores than had healthy controls, but did not differ from them either in depression or anxiety levels. Retarded depression and anxiety were higher among RA patients than in WD-N patients. This nondistressed response to the chronic disabling disease was even more salient in 19 WD patients with lesions in basal ganglia only. WD-A patients did not differ from their healthy peers, which suggests a tendency towards hypercompensation and denial in the former. WD-N patients' limited awareness of their deficits (including impaired control of affective behavior) seems to result from their brain damage implicating the basal ganglia.     

Left-hand somatosensory stimulation combined with visual scanning training in rehabilitation for post-stroke hemineglect: a randomised, double-blind study

The aim of this randomised, double-blind study was to investigate the therapeutic effectiveness of left-hand electrical stimulation for patients with post-stroke left visuo-spatial neglect. This approach was hypothesised to enhance activation of the right hemisphere attention system and to improve visual exploration of extrapersonal space. Participants (n = 40) in the study were in a relatively early stage of recovery from their first right hemisphere stroke, and were randomly assigned to the experimental (E) or control (C) group. Group E received conventional visual scanning training combined with electrostimulation of the left hand, while Group C received scanning training with sham stimulation. Their visuo-spatial neglect was assessed twice, prior to the rehabilitation programme and on its completion, using cancellation tests and a letter-reading task. The effect of electrostimulation on hemineglect was assessed following a single administration and after a month-long rehabilitation programme. Although the immediate effect of stimulation was poor, after a month-long rehabilitation period we found significantly greater improvement in Group E patients than in Group C patients. Interestingly, the presence of hemisensory loss did not weaken the observed effect. Therefore, we claim that contralesional hand stimulation combined with visual scanning was a more effective treatment for hemineglect rehabilitation than scanning training alone.