- Expanding the phenotype of intellectual disability caused by HIVEP2 variants. [Case Reports]
- AJAm J Med Genet A 2019 Jun 17
- De novo pathogenic variants in the human immunodeficiency virus enhancer type I binding protein 2 (HIVEP2) gene, a large transcription factor predominantly expressed in the brain have previously been…
De novo pathogenic variants in the human immunodeficiency virus enhancer type I binding protein 2 (HIVEP2) gene, a large transcription factor predominantly expressed in the brain have previously been associated with intellectual disability (ID) and dysmorphic features in nine patients. We describe the phenotype and genotype of two additional patients with novel de novo pathogenic HIVEP2 variants, who have previously unreported features, including hyperphagia and Angelman-like features. Exome sequencing was utilized in the investigation of the patients who had previously incurred a rigorous genetic workup for their neurodevelopmental delay, and in whom no genetic cause had been detected. Information pertaining to phenotype and genotype for new patients was collated along with data from previous reports, showing that the phenotypic spectrum of patients with HIVEP2 variants is broader than first noted. Additional characteristics are: an increased body mass index; and features of Angelman-like syndromes including: ID, limited speech, post-natal microcephaly, and hypotonia. Dysmorphic features vary between patients. As yet, no clear association between the type of gene aberration and phenotype can be concluded. HIVEP2-related ID needs to be considered in the differential diagnosis of patients with Angelman-like phenotypes and hyperphagia, and whole-exome sequencing should be considered in the genetic diagnostic armamentarium for patients with ID of inconclusive etiology.
- Strength training improves body composition, muscle strength and increases CD4+ T lymphocyte levels in people living with HIV/AIDS. [Journal Article]
- IDInfect Dis Rep 2019 Feb 26; 11(1):7925
- The establishment of physical training programs for people living with HIV/AIDS (PLWHA) has several benefits. The study aimed to analyze the effect of resistance training using prediction of intensit…
The establishment of physical training programs for people living with HIV/AIDS (PLWHA) has several benefits. The study aimed to analyze the effect of resistance training using prediction of intensity by subjective perception of effort (SPE) on body composition, muscle strength, and TCD4+ lymphocyte levels in PLWHA. This a randomized controlled trial study. Participants (11 men and 8 women), were divided in two groups: exercise group (EG) and control group (CG). The EG was submitted to 12 weeks of a resistance-training program based in the prediction of intensity by SPE. Body mass percentages were evaluated using tetrapolar bioelectrical impedance and skinfold methods. We used Flow Cytometry to quantify CD4+ T lymphocytes. Patients showed significant changes in Body Fat Percentage (Δ%=-6.23%), Lean Body Mass (Δ%=2.45%), and CD4T lymphocytes levels (Δ%=15.77%). They also showed significant increase in muscular strength presented in the test for one repetition maximum in all the evaluated exercises. Our data suggest that exercising program prescribed by SPE is capable of improving immune function, body composition, and muscular strength in PLWHA.
- U-turn trajectories of magnetotactic cocci allow the study of the correlation between their magnetic moment, volume and velocity. [Journal Article]
- EBEur Biophys J 2019 Jun 15
- Magnetotactic bacteria are microorganisms that present intracellular chains of magnetic nanoparticles, the magnetosome chain. A challenge in the study of magnetotactic bacteria is the measurement of …
Magnetotactic bacteria are microorganisms that present intracellular chains of magnetic nanoparticles, the magnetosome chain. A challenge in the study of magnetotactic bacteria is the measurement of the magnetic moment associated with the magnetosome chain. Several techniques have been used to estimate the average magnetic moment of a population of magnetotactic bacteria, and others permit the measurement of the magnetic moment of individual bacteria. The U-turn technique allows the measurement of the individual magnetic moment and other parameters associated with the movement and magnetotaxis, such as the velocity and the orientation angle of the trajectory relative to the applied magnetic field. The aim of the present paper is to use the U-turn technique in a population of uncultured magnetotactic cocci to measure the magnetic moment, the volume, orientation angle and velocity for the same individuals. Our results showed that the magnetic moment is distributed in a log-normal distribution, with a mean value of 8.2 × 10-15 Am2 and median of 5.4 × 10-15 Am2. An estimate of the average magnetic moment using the average value of the orientation cosine produces a value similar to the median of the distribution and to the average magnetic moment obtained using transmission electron microscopy. A strong positive correlation is observed between the magnetic moment and the volume. There is no correlation between the magnetic moment and the orientation cosine and between the magnetic moment and the velocity. Those null correlations can be explained by our current understanding of magnetotaxis.
- Hepatocyte growth factor and epidermal growth factor in HIV infected women with preeclampsia. [Journal Article]
- EJEur J Obstet Gynecol Reprod Biol 2019 Jun 08; 240:9-14
- CONCLUSIONS: The study demonstrates that there is a strong association between HIV and PE and that HGF and EGF are promising biomarkers to use as a diagnostic tool for PE.
- Seroprevalence of hepatitis B virus: findings from a population-based household survey in KwaZulu Natal, South Africa. [Journal Article]
- IJInt J Infect Dis 2019 Jun 13
- CONCLUSIONS: HBV infection among HIV positive men remains an important public health problem in communities in KwaZulu-Natal, South Africa. The prevalence of HBsAg and HBeAg highlight the importance of surveillance and an important missed opportunity for the scale up of programmes to achieve the goal of controlling HBV for public health benefit.
- Prevalence and risk factors of schistosomiasis and soil-transmitted helminthiases among preschool aged children (1-5 years) in rural KwaZulu-Natal, South Africa: a cross-sectional study. [Journal Article]
- IDInfect Dis Poverty 2019 Jun 16; 8(1):47
- CONCLUSIONS: The findings show low prevalence and infection intensity of schistosomiasis and STH infection except A. lumbricoides among PSAC. Factors predicting schistosomiasis and STH infection among PSAC were related to caregivers' age, educational status, water and hygiene practices. STH infection was exclusively associated with PSAC playing and handwashing habits. These findings highlight the need to include PSAC caregivers in schistosomiasis and STH prevention and control programmes.
- Type 2 diabetes induced oxidative brain injury involves altered cerebellar neuronal integrity and elemental distribution, and exacerbated Nrf2 expression: therapeutic potential of raffia palm (Raphia hookeri) wine. [Journal Article]
- MBMetab Brain Dis 2019 Jun 14
- Neurodegenerative diseases, such as Alzheimer's disease have been recognized as one of the microvascular complications of type 2 diabetes (T2D). In this study, the effect of T2D on neuronal integrity…
Neurodegenerative diseases, such as Alzheimer's disease have been recognized as one of the microvascular complications of type 2 diabetes (T2D). In this study, the effect of T2D on neuronal integrity and elemental distribution in the cerebellar cortex, as well as the therapeutic effect of Raffia Palm (Raphia hookeri) wine (RPW) were investigated in male albino rats. T2D was induced in 4 groups of rats using fructose and streptozotocin. One group served as negative control which was administered water, the second and third group were administered 150 and 300 mg/kg bodyweight of RPW, while the fourth was administered metformin (200 mg/kg bodyweight). Two other groups of normal rats were administered distilled water (control) and of RPW (300 mg/kg bodyweight). The rats were sacrificed after 5 weeks of treatment, and brains were collected. The cerebellum was removed, and several parts analyzed by immunochemistry, histology and scanning electron microscopy (SEM). Remaining brain tissues were used to analyze for the oxidative stress biomarkers and acetylcholinesterase activity. These analyses revealed oxidative damage with concomitantly increased acetylcholinesterase activity and upregulation of Nrf2 expression in the diabetic brain cerebellar cortexes. Histological and microscopic analysis also revealed altered distribution of neurons and axonal nodes with concomitant elevated levels of several heavy metals. Treatment with RPW significantly elevated glutathione (GSH) level, superoxide dismutase (SOD) and catalase activities, as well as depleted acetylcholinesterase and malondialdehyde (MDA) level and concomitantly inhibited Nrf2 expression. It also improved neuronal integrity and reduced the levels of heavy metals in brain. Taken together, the results of this study suggest that the RPW may afford a novel neuroprotective potential against diabetic neurodegeneration.
- Evaluating the role of levels of exposure to a task shared depression counselling intervention led by behavioural health counsellors: outcome and process evaluation. [Journal Article]
- IJInt J Ment Health Syst 2019; 13:42
- CONCLUSIONS: Exposure to a greater number of sessions (5-8 sessions) was found to optimize functional ability, reduce stigma, and potentially reduce depression symptoms. In order to enhance session attendance, lay counsellor delivered psychosocial interventions need to pay attention to (i) counsellor selection criteria, particularly person-centred care qualities; and (ii) strengthening referral processes in contexts where mental health literacy is low.
- Entomo-virological surveillance strategy for dengue, Zika and chikungunya arboviruses in field-caught Aedes mosquitoes in an endemic urban area of the Northeast of Brazil. [Journal Article]
- ATActa Trop 2019 Jun 10; 197:105061
- Aedes spp. are considered the main vectors of dengue (DENV), Zika (ZIKV) and chikungunya (CHIKV) viruses in the world. Arbovirus detection in Aedes mosquitoes can alert authorities to possible outbre…
Aedes spp. are considered the main vectors of dengue (DENV), Zika (ZIKV) and chikungunya (CHIKV) viruses in the world. Arbovirus detection in Aedes mosquitoes can alert authorities to possible outbreaks, reducing the impact of these diseases. The purpose of this study was to perform an operational strategy for virological surveillance of DENV, ZIKV and CHIKV in adult Aedes aegypti and Aedes albopictus mosquitoes captured at different key-sites in an endemic urban area of the Northeast Region of Brazil, with the prospect of discussing its role as part of an alert system for outbreaks in critical areas. Residential and non-residential premises located in areas of recent of transmission of these arboviruses were selected for adult mosquito collection in the rainy season (July) of 2018. A total of 1068 adult mosquitoes were collected: 946 Culex quinquefasciatus (88.6%), 118 Ae. aegypti (11.0%), two Ae. albopictus (0.2%) and two Aedes taeniorhynchus (0.2%). Among the premises surveyed, recycling points (N = 48, 40.7%), municipal schools (N = 36, 30.5%) and junkyards (N = 31, 26.2%) were the places with the highest frequency of adult Ae. aegypti. Health units (including primary health care facilities and one hospital) (N = 23; 19.5%) together with residential premises (N = 11; 9.3%) presented the lowest frequencies. Total RNAs of the samples were extracted from Aedes mosquitoes and a nested reverse transcription (RT) polymerase chain reaction (PCR) assay for detecting and typing DENV, ZIKV and CHIKV was performed. From the 37 Aedes spp. pools analyzed (35 Ae. aegypti, one Ae. albopictus and one Ae. taeniorhynchus), seven were positive for DENV-3, including three pools containing Ae. aegypti females, one containing an Ae. aegypti engorged female and three comprised of Ae. aegypti males. The positive pools were composed of mosquitoes collected in public schools, health units, junkyards, recycling points and residential premises. Our findings reinforce the importance of continuous virological surveillance in Aedes mosquitoes, as a useful tool for detecting arboviruses circulation in vulnerable areas, even in low infestation seasons.
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- Functioning and disability of premenopausal women with urinary incontinence: An assessment by using the World Health Organization Disability Assessment Schedule-WHODAS 2.0. [Journal Article]
- NUNeurourol Urodyn 2019 Jun 13
- CONCLUSIONS: Urinary incontinence in women of reproductive age is associated with disability and worse scores of WHODAS when we compare them to women without urine leakage. The results presented can be useful for designing and adapting strategies for comprehensive care of women with urinary incontinence and disability, and developing rehabilitation programs based on functioning.