Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.:

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Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

BMC Med Genet. 2020 May 01;21(1):87

Authors: Bieder A, Einarsdottir E, Matsson H, Nilsson HE, Eisfeldt J, Dragomir A, Paucar M, Granberg T, Li TQ, Lindstrand A, Kere J, Tapia-Páez I

Abstract

BACKGROUND: Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the cilium, an organelle regulating left-right asymmetry development in the embryo. Furthermore, it has been suggested that disrupted left-right asymmetry of the brain may play a role in neurodevelopmental disorders such as DD. However, it is unknown whether there is a common genetic cause to DD and laterality defects or ciliopathies.

CASE PRESENTATION: Here, we studied two individuals with co-occurring situs inversus (SI) and DD using whole genome sequencing to identify genetic variants of importance for DD and SI. Individual 1 had primary ciliary dyskinesia (PCD), a rare, autosomal recessive disorder with oto-sino-pulmonary phenotype and SI. We identified two rare nonsynonymous variants in the dynein axonemal heavy chain 5 gene (DNAH5): a previously reported variant c.7502G > C; p.(R2501P), and a novel variant c.12043 T > G; p.(Y4015D). Both variants are predicted to be damaging. Ultrastructural analysis of the cilia revealed a lack of outer dynein arms and normal inner dynein arms. MRI of the brain revealed no significant abnormalities. Individual 2 had non-syndromic SI and DD. In individual 2, one rare variant (c.9110A > G;p.(H3037R)) in the dynein axonemal heavy chain 11 gene (DNAH11), coding for another component of the outer dynein arm, was identified.

CONCLUSIONS: We identified the likely genetic cause of SI and PCD in one individual, and a possibly significant heterozygosity in the other, both involving dynein genes. Given the present evidence, it is unclear if the identified variants also predispose to DD and further studies into the association between laterality, ciliopathies and DD are needed.

PMID: 32357925 [PubMed - as supplied by publisher]

Protocol for the trial to establish a causal linkage between mycotoxin exposure and child stunting: a cluster randomized trial.

Protocol for the trial to establish a causal linkage between mycotoxin exposure and child stunting: a cluster randomized trial.:

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Protocol for the trial to establish a causal linkage between mycotoxin exposure and child stunting: a cluster randomized trial.

BMC Public Health. 2020 May 01;20(1):598

Authors: Phillips E, Ngure F, Smith LE, Makule E, Turner PC, Nelson R, Kimanya M, Stoltzfus R, Kassim N

Abstract

BACKGROUND: The number of stunted children has fallen globally but continues to increase in Africa. Stunting is estimated to contribute to 14-17% of child deaths under 5 years of age and is a risk factor for poor cognitive and motor development and educational outcomes. Inadequate dietary intake and disease are thought to be the immediate causes of undernutrition and stunting. However, improving infant diets through complementary feeding interventions has been shown to only modestly reduce stunting. Multiple observational studies demonstrate a dose response relationship between fetal and post-natal aflatoxin exposure and reduced linear growth.

METHODS: This community-based cluster randomized trial will measure the effect of a reduced aflatoxin diet on length-for-age Z scores at 18 months in central Tanzania. All 52 health facilities in the Kongwa District of Dodoma Region were randomized into two groups. Starting at 6 months of age, participants in the intervention group receive a low-aflatoxin pre-blended porridge flour containing maize and groundnut (ratio 4:1 respectively) and low-aflatoxin groundnut flour, whereas in the control group the same porridge mix and groundnut flour are promoted through education but acquired by the household. Both groups will receive the same infant and young child feeding education and a thermos flask. A total of 3120 infants between 6 weeks and 3 months of age will be recruited into the study over 1 year. Data will be collected four times - at recruitment and when the infants are 6, 12 and 18 months of age. In a cohort of 600 infants, additional data will be collected at 9 and 15 months of age. The primary outcome is length-for-age at 18 months. Secondary outcomes include the Z scores for weight-for-age, middle upper arm circumference and head circumference, and the blood biomarker aflatoxin-albumin in the full sample, with the urine biomarker aflatoxin M1 analyzed in the cohort only.

DISCUSSION: Better understanding the etiology of childhood stunting can lead to more appropriate interventions and policies to further reduce linear growth faltering and meet the Sustainable Development Goals.

TRIAL REGISTRATION: NCT03940547, (April 24, 2019).

PMID: 32357944 [PubMed - as supplied by publisher]

Rhinovirus impairs the immune response of alveolar macrophages to facilitate Streptococcus pneumonia infection.

Rhinovirus impairs the immune response of alveolar macrophages to facilitate Streptococcus pneumonia infection.:

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Rhinovirus impairs the immune response of alveolar macrophages to facilitate Streptococcus pneumonia infection.

Pathog Dis. 2020 May 02;:

Authors: Wei H, Zhao H, Li R, Yang F, Wu Y

Abstract

Pneumonia is one important cause of mortality in neonates. However, the mechanism remains still unclear. Viral infection greatly enhances the morbidity of Streptococcus pneumonia. In this study, we tried to understand how human rhinovirus (HRV) would accelerate Streptococcus pneumonia infection. Alveolar macrophages (AMs) were isolated from neonatal mice. Cytokine concentrations were detected using ELISA. The phagocytosis of Streptococcus pneumonia by AMs was indicated by immunofluorescence. Toll-like receptor 3 (TLR3) and CD68 expression in isolated AMs or infected mice were determined by Western blot or immunochemistry. The mortality was explored using Kaplan-Meier analysis. HRV infection enhanced cytokine release by AMs, and decreased Streptococcus pneumonia-induced TNF-α, IL-1β and IL-6 release by AMs, while has no influence on IL-10 release. HRV infection impaired phagocytosis of Streptococcus pneumonia in AMs. Mechanically, HRV infection up-regulated TLR3 expression in AMs. Mortality and pneumococcal burden decreased in TLR3-/- neonatal mice and inflammation and phagocytosis were restored in TLR3-/- AMs. Neonatal rhinovirus impairs the immune response of alveolar macrophages to facilitate Streptococcus pneumonia infection via TLR3 signaling.

PMID: 32358959 [PubMed - as supplied by publisher]

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.:

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A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.

Am J Med Genet A. 2020 May 02;:

Authors: Pascolini G, Agolini E, Fleischer N, Gulotta E, Cesario C, D'Elia G, Novelli A, Majore S, Grammatico P

Abstract

A rare developmental delay (DD)/intellectual disability (ID) syndrome with craniofacial dysmorphisms and autistic features, termed White-Sutton syndrome (WHSUS, MIM#614787), has been recently described, identifying truncating mutations in the chromatin regulator POGZ (KIAA0461, MIM#614787). We describe a further WHSUS patient harboring a novel nonsense de novo POGZ variant, which afflicts a protein domain with transposase activity less frequently impacted by mutational events (DDE domain). This patient displays additional physical and behavioral features, these latter mimicking Smith-Magenis syndrome (SMS, MIM#182290). Considering sleep-wake cycle anomalies and abnormal behavior manifested by this boy, we reinforced the clinical resemblance between WHSUS and SMS, being both chromatinopathies. In addition, using the DeepGestalt technology, we identified a different facial overlap between WHSUS patients with mutations in the DDE domain (Group 1) and individuals harboring variants in other protein domains/regions (Group 2). This report further delineates the clinical and molecular repertoire of the POGZ-related phenotype, adding a novel patient with uncommon clinical and behavioral features and provides the first computer-aided facial study of WHSUS patients.

PMID: 32359026 [PubMed - as supplied by publisher]

Apatinib, a novel VEGFR-2 tyrosine kinase inhibitor, for relapsed and refractory nasopharyngeal carcinoma: data from an open-label, single-arm, exploratory study

Apatinib, a novel VEGFR-2 tyrosine kinase inhibitor, for relapsed and refractory nasopharyngeal carcinoma: data from an open-label, single-arm, exploratory study:

Summary

Purpose Apatinib, a new tyrosine kinase inhibitor targeting vascular endothelial growth factor receptor-2, has shown promising efficacy against several solid cancers, but evidence of its efficacy against relapsed and refractory nasopharyngeal carcinoma is limited. We investigated the efficacy and safety of apatinib for relapsed and refractory nasopharyngeal carcinoma in an open-label, single-arm, phase II clinical trial. Fifty-one patients with relapsed and refractory nasopharyngeal carcinoma in the First Affiliated Hospital, Zhengzhou University, who met the inclusion criteria were enrolled in the study. All patients received apatinib at an initial dose of 500 mg daily (1 cycle = 28 days). The primary and secondary endpoints were overall response rate, progression-free survival, and overall survival. We evaluated treatment effects and recorded apatinib-related adverse events by performing regular follow-ups and workup. The overall response rate (complete and partial responses) was 31.37% (16/51). The median overall survival and progression-free survival were 16 (95% CI, 9.32–22.68) and 9 months (95% CI, 5.24–12.76), respectively. Most patients tolerated treatment-related adverse events of grades 1 and 2; hypertension (29, 56.86%), proteinuria (25, 49.02%), and hand–foot syndrome (27, 52.94%) were the most common adverse events. There were no treatment-related deaths. Apatinib showed good efficacy and safety in patients with relapsed and refractory NPC.

The efficacy of vitamin D combined with clomiphene citrate in ovulation induction in overweight women with polycystic ovary syndrome: a double blind, randomized clinical trial

The efficacy of vitamin D combined with clomiphene citrate in ovulation induction in overweight women with polycystic ovary syndrome: a double blind, randomized clinical trial:

Abstract

Purpose

The aim of this study was to assess the effect of vitamin D supplementation on ovulation rate in overweight subfertile women with PCOS undergoing ovulation induction.

Methods

This was a single center, parallel-groups, double-blind, and placebo-controlled randomized trial involving 186 eligible women undergoing induction of ovulation with clomiphene citrate (Clomid®, Aventis) 50 mg tablet twice daily starting from the third day of menstrual cycle and for 5 days combined with either oral Vitamin D (ossofortin®, EVA PHARMA) 10,000 IU twice weekly and calcium (calciprex®, Marcyrl Pharmaceutical Industries) 1250 mg twice daily or to receive a placebo with calcium for three successive induction cycles. The vitamin D or placebo supplementation started 1 month before induction cycles (total four cycles). Cycles were monitored with ultrasound follicle tracking and mid-luteal serum progesterone measurement. The primary outcome was the ovulation rate after three induction cycles.

Results

The study was performed during the period between January 2018 and September 2018, Eighty six (92.5%) women in the treatment group and 73 (78.5%) in the control group had successful ovulation (p = 0.007). The absolute and relative risk reduction was 14% and 65% respectively. Biochemical and clinical pregnancy occurred in 61.3 and 50.5% in the treatment group, and in 49.5 and 39.8% in the control group (p = 0.105 and 0.141 respectively).

Conclusion

In subfertile women with PCOS undergoing induction of ovulation, vitamin D supplementation significantly improved the ovulation rate; however, there was no effect on clinical or biochemical pregnancy.

Gemcitabine and cisplatin versus docetaxel and cisplatin as induction chemotherapy followed by concurrent chemoradiotherapy in locoregionally advanced nasopharyngeal carcinoma from non-endemic area of China

Gemcitabine and cisplatin versus docetaxel and cisplatin as induction chemotherapy followed by concurrent chemoradiotherapy in locoregionally advanced nasopharyngeal carcinoma from non-endemic area of China:

Abstract

Purpose

Although several trials have confirmed the treatment efficacy of induction chemotherapy followed by concurrent chemoradiotherapy (CCRT) in locoregionally advanced nasopharyngeal carcinoma (NPC) from endemic area of China, little is known about the best regime for induction chemotherapy in non-endemic region. This study compared the treatment effect of Gemcitabine and cisplatin (GP) versus docetaxel and cisplatin (TP) followed by concurrent chemoradiotherapy in locoregionally advanced NPC from non-endemic area of China.

Materials and methods

A total of 196 locoregionally advanced NPC patients were enrolled in this study, with 142 and 54 patients in TP and GP followed by concurrent chemoradiotherapy groups. The primary endpoint was treatment response of induction chemotherapy. The secondary endpoints included disease-free survival. The Kaplan–Meier method was used to evaluate the efficacy between treatment groups.

Results

The median follow-up time was 45.5 months (range: 6–60.5 months). During induction chemotherapy course, GP contributed higher treatment response rate than TP (68.1% vs. 47.1%, p = 0.007). Patients in GP group had better DFS and LRFS than those in TP group (3-year and 5-year DFS, 86.8% and 82.5% vs. 71.7% and 68%, p = 0.036; 3-year and 5-year LRFS, 96.2% and 96.2% vs. 90.5% and 82.8%, p = 0.03). No significant difference of adverse events was observed between two treatment groups in the whole course.

Conclusion

This study suggested that GP followed by CCRT was better than TP followed by CCRT in improving survival outcomes of locoregionally advanced NPC patients from non-endemic area of China.

Predicting prolonged length of stay after endoscopic transsphenoidal surgery for pituitary adenoma

Predicting prolonged length of stay after endoscopic transsphenoidal surgery for pituitary adenoma:

Background

Endoscopic transsphenoidal surgery (ETS) for the resection of pituitary adenoma has become more common throughout the past decade. Although most patients have a short postoperative hospitalization, others require a more prolonged stay. We aimed to identify predictors for prolonged hospitalization in the setting of ETS for pituitary adenomas.

Methods

A retrospective chart review as performed on 658 patients undergoing ETS for pituitary adenoma at a single tertiary care academic center from 2005 to 2019. Length of stay (LoS) was defined as date of surgery to date of discharge. Patients with LoS in the top 10th percentile (prolonged LoS [PLS] >4 days, N = 72) were compared with the remainder (standard LoS [SLS], N = 586).

Results

The average age was 54 years and 52.5% were male. The mean LoS was 2.1 days vs 7.5 days (SLS vs PLS). On univariate analysis, atrial fibrillation (p = 0.002), hypertension (p = 0.033), partial tumor resection (p < 0.001), apoplexy (p = 0.020), intraoperative cerebrospinal fluid (ioCSF) leak (p = 0.001), nasoseptal flap (p = 0.049), postoperative diabetes insipidus (DI) (p = 0.010), and readmission within 30 days (p = 0.025) were significantly associated with PLS. Preoperative continuous positive airway pressure (CPAP) (odds ratio, 15.144; 95% confidence interval, 2.596‐88.346; p = 0.003) and presence of an ioCSF leak (OR, 10.362; 95% CI, 2.143‐50.104; p = 0.004) remained significant on multivariable analysis.

Conclusion

For patients undergoing ETS for pituitary adenomas, an ioCSF leak or preoperative use of CPAP predicted PLS. Additional common reasons for PLS included postoperative CSF leak (10 of 72), management of DI or hypopituitarism (15 of 72), or reoperation due to surgical or medical complications (14 of 72).

Contributing factors for delayed postoperative cerebrospinal fluid leaks and suggested treatment algorithm

Contributing factors for delayed postoperative cerebrospinal fluid leaks and suggested treatment algorithm:

Background

Delayed postoperative cerebrospinal fluid (CSF) leaks are uncommon and largely unstudied complications. In this study we aim to identify their etiology and understand the efficacy of various reconstruction strategies.

Methods

A retrospective chart analysis of 1017 endonasal skull base surgeries performed by a single neurosurgeon was completed identifying delayed CSF leaks (occurring >1 week after surgery).

Results

Seventeen cases of early (1‐2 weeks after surgery) or delayed (>2 weeks after surgery) postoperative CSF leak were identified. The most common reconstruction during the initial surgery consisted of an inlay or gasket seal collagen matrix (82.4% of patients) with an onlay pedicled flap (76.5% of patients). Presenting symptoms of delayed CSF leak included rhinorrhea (82.4%), headache (41.2%), and meningitis (23.5%). The most common causes included flap dehiscence (17.6%); provoking events such as emesis, sneezing, or fall (17.6%); flap necrosis (11.8%); flap displacement (11.8%); and inadequate apposition of the flap, that is, folded flap (11.8%). Reconstructive techniques of the delayed CSF leak included fortification of the initial reconstruction with free fat grafts (29.4% of patients), combined collagen matrix with a fat graft (23.5% of patients), repositioning of the previous flap (11.8% of patients), and repair with a new flap (11.8% of patients). CSF diversion (spinal/ventricular drain or shunt) was used in 17.6% of patients.

Conclusion

This study identifies the most common etiologic factors leading to a delayed CSF leak and its initial symptoms. Furthermore, it serves as the foundation for a reconstructive algorithm based on reinforcement of the initial repair with free abdominal fat graft with or without collagen matrix.

Human exposure to bisphenol A through dietary sources and development of diabetes mellitus: a cross-sectional study in Pakistani population

Human exposure to bisphenol A through dietary sources and development of diabetes mellitus: a cross-sectional study in Pakistani population:

Abstract

Bisphenol A (BPA) is considered as xenoestrogen, a crucial component utilized for the manufacturing of plastic products. It has a potential to disrupt the endocrine system and induces endocrine-related metabolic disorders. We aimed to investigate the exposure of BPA in Pakistani population and its association with sociodemographic features, dietary habits, and risk factors of diabetes mellitus (DM). This cross-sectional study was conducted on 400 participants among which 61.75% participants were diabetic and 38.25% were non-diabetic. We developed a structured questionnaire, gathered sociodemographic data, and collected their urine and blood samples for the estimation of BPA and various biomarkers as risk factors of DM, respectively. Pearson correlation coefficient was determined for urinary BPA levels and DM risk factors. Urinary BPA values were adjusted for confounders. Sociodemographic data shown that urinary BPA level was significantly higher (p < 0.05) in obese people (BMI > 27) living in semi-urban and industrial areas. BPA was detectable in 75% of study participants. Urinary BPA level was found to be higher in diabetic participants compared with that of non-diabetics. A significant correlation is observed between BPA exposure and DM risk factors. We found that urinary BPA level was correlated with elevated levels of HbA1c (r = 0.6028), HOMA-IR (r = 0.5356), CRP (r = 0.6946), BUN (r = 0.6077), AST (r = 0.5151), FFA (r = 0.5759), TGs (r = 0.5608), and MDA (r = 0.6908). Hence, our study adds to the growing body of evidence supporting the role of BPA exposure as a risk factor for DM and may be associated with higher glycemic index, increased pro-inflammatory and oxidative stress biomarkers, dyslipidemia, and impaired functioning of the liver and kidney. Heating food in plastic containers and consumption of packed food items are the main sources of BPA exposure which are positively associated with DM.

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18h

Climate disturbance impact assessment in West Africa: evidence from field survey and satellite imagery analysis

Abstract Extreme drought events from climate disturbances are weakening livelihood and limiting agriculture and livestock production in the Sahel region. The lack of relevant information to anticipate coping measures has exacerbated impacts leading to climate adaptation failure in most parts. In this regard, the current research paper has collected important datasets with an objective to assess the impact of extreme drought events on household’s livelihoods for better understanding...

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19h

Fuzzy classifier model to know the sustainability of aquatic organisms and to forecast the aqua farmers

Abstract This research work focuses to develop a fuzzy classifier model, to know the sustainability of aquatic animals and/or plants by assessing the aqua pond water quality. This model categorizes the water quality of aqua pond into four levels like as normal, acceptable, abnormal, and dangerous based on the numerical values of physical limits. The developed model is useful to forecast the pond water quality by the aqua farmers to keep up within the acceptable limits at the earliest....

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19h

Air pollution, demographic structure, and the current account: an extended life-cycle model

Abstract Air pollution has an important impact on both human health and sustainable economic development. The relationship of the current account, which is an important carrier of international economic activity, with air pollution has rarely been discussed by scholars. This paper aims to investigate how air pollution affects the current account and the mechanism of this effect. We conducted a theoretical analysis of the relationship between air pollution and the current account...

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20h

Endosulfan induces endothelial inflammation and dysfunction via IRE1α/NF-κB signaling pathway

Abstract Cardiovascular diseases are related to vascular endothelial cell injury; our previous studies showed that endosulfan could cause hypercoagulation of blood by inducing endothelial cell injury. To clarify the mechanism of it, we treated human umbilical vein endothelial cells (HUVECs) with 0, 1, 5, and 10 μg/mL endosulfan, while in the inhibition groups, reactive oxygen species (ROS) inhibitor N-acetylcysteine (NAC, 3 mmol) and endoplasmic reticulum (ER) stress inhibitor...

Latest Results

1d

Association between exposure to ambient fine particulate matter and prevalence of type 2 diabetes in Iran: an ecological study

Abstract Epidemiological evidence for the link between long-term exposure to air particulate matter (PM2.5) and occurrence of type 2 diabetes (T2D) is limited such that little is known about the effect of PM2.5 exposure and adult T2D prevalence. Thus, the aim of this ecological study is to evaluate the contribution of ambient PM2.5 exposure to the adult T2D prevalence in the large population of Iran. The study was conducted based on Iran’s large-scale cross-sectional surveilling...

Latest Results

1d