Moving forward: Scaling-up the integration of an HIV and hypertension program in Akwa Ibom State, Nigeria.

Background: As people living with HIV experience increased life expectancy, there is a growing concern about the burden of comorbid non-communicable diseases, particularly hypertension. This policy brief describes the current policy landscape in Akwa Ibom State, Nigeria, the research activities, and five policy recommendations rooted in an ongoing research study designed to integrate hypertension management into HIV care across primary health centers in the state. Analysis: The policy brief was developed in four steps: review of existing policies, using the reviewed policies to inform research activities, solicitation of stakeholder recommendations via focus group discussions, and formulation of the resulting five policy recommendations for integrating hypertension management into HIV care programs in Akwa Ibom. The key analysis for this brief emerged from the thematic analyses of stakeholder responses. Policy Implications: The five policy recommendations for integrating hypertension management in HIV care in Akwa Ibom State, Nigeria are: 1) build capacity by leveraging retired community nurses as mentors; 2) emphasize community engagement; 3) develop consistent training programs on hypertension management for health workers; 4) expand health insurance accessibility; and 5) formally integrate hypertension management into primary healthcare centers in Akwa Ibom State.

Assets for integrating task-sharing strategies for hypertension within HIV clinics: Stakeholder's perspectives using the PEN-3 cultural model.

BACKGROUND: Access to antiretroviral therapy has increased life expectancy and survival among people living with HIV (PLWH) in African countries like Nigeria. Unfortunately, non-communicable diseases such as cardiovascular diseases are on the rise as important drivers of morbidity and mortality rates among this group. The aim of this study was to explore the perspectives of key stakeholders in Nigeria on the integration of evidence-based task-sharing strategies for hypertension care (TASSH) within existing HIV clinics in Nigeria. METHODS: Stakeholders representing PLWH, patient advocates, health care professionals (i.e. community health nurses, physicians and chief medical officers), as well as policymakers, completed in-depth qualitative interviews. Stakeholders were asked to discuss facilitators and barriers likely to influence the integration of TASSH within HIV clinics in Akwa Ibom, Nigeria. The interviews were transcribed, keywords and phrases were coded using the PEN-3 cultural model as a guide. Framework thematic analysis guided by the PEN-3 cultural model was used to identify emergent themes. RESULTS: Twenty-four stakeholders participated in the interviews. Analysis of the transcribed data using the PEN-3 cultural model as a guide yielded three emergent themes as assets for the integration of TASSH in existing HIV clinics. The themes identified are: 1) extending continuity of care among PLWH; 2) empowering health care professionals and 3) enhancing existing workflow, staff motivation, and stakeholder advocacy to strengthen the capacity of HIV clinics to integrate TASSH. CONCLUSION: These findings advance the field by providing key stakeholders with knowledge of assets within HIV clinics that can be harnessed to enhance the integration of TASSH for PLWH in Nigeria. Future studies should evaluate the effect of these assets on the implementation of TASSH within HIV clinics as well as their effect on patient-level outcomes over time.

Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.

Congenital myasthenic syndromes (CMS) are rare, heterogeneous, and often treatable genetic disorders depending on the underlying molecular defect. We performed a detailed clinical evaluation of seven patients from five unrelated families. Exome sequencing was performed on five index patients. Clinically significant variants were identified in four CMS disease-causing genes: COLQ (3/7), CHRNE (2/7), DOK7 (1/7), and RAPSN (1/7). We identified two novel variants, c.930_933delCATG in DOK7 and c.1016_1032 + 2dup in CHRNE . A common pathogenic variant, c.955-2A>C, has been identified in COLQ -related CMS patients. Homozygosity mapping of this COLQ variant in patients from two unrelated families revealed that it was located in a common homozygous region of 3.2 Mb on chromosome 3 and was likely to be inherited from a common ancestor. Patients with COLQ variants had generalized muscle weakness, those with DOK7 and RAPSN variants had limb-girdle weakness, and those with CHRNE variants had predominant ocular weakness. Patients with COLQ and DOK7 variants showed improvement with salbutamol and CHRNE with pyridostigmine therapy. This study expands the mutational spectrum and adds a small but significant cohort of CMS patients from India. We also reviewed the literature to identify genetic subtypes of CMS in India.

Correction: SARS-CoV-2 Mutations Responsible for Immune Evasion Leading to Breakthrough Infection.

[This corrects the article DOI: 10.7759/cureus.29544.].

Building Capacity of Community Nurses to Strengthen the Management of Uncomplicated Hypertension in Persons Living with HIV in Low- and Middle-Income Countries.

Objectives: Poor training of non-physician healthcare workers (especially community nurses) could hinder the successful integration of cardiovascular disease (CVD) management into HIV chronic care in primary healthcare facilities in low- and middle-income countries. To address this limitation, we included a holistic training programme with a robust module for both practice facilitators and community nurses as part of the formative stages of the managing hypertension among people living with HIV: an integrated model (MAP-IT), which is a study that is evaluating the effectiveness of practice facilitation on the integration of a task-strengthening strategy for hypertension control (TASSH) into primary healthcare centres in Akwa Ibom State of Nigeria. Methods: Between June and November 2021, 3 didactic training workshops were conducted using a training module which is based on the simplified Nigerian Hypertension Protocol for primary care and the World Health Organization (WHO) heart package. Knowledge acquired by the participants was assessed using anonymized pre- and post-training assessments in the first two workshops. Participants' view of the training was assessed using a comprehensive course evaluation questionnaire. Results: A total of 92 community nurses and six practice facilitators were trained in the workshops on managing hypertension in persons living with HIV. Mean pre- and post-test scores improved from 11.9(3.4) to 15.9(2.9); p < 0.001 in the first workshop, and from 15.4(0.9) to 16.4 (1.4); p < 0.001 in the second workshop. The methodology used in the training, understanding of the MAP-IT study programme, and the level of engagement was highly rated by the participants with LIKERT scores of 3.2/4.0, 3.2/4.0, and 3.1/4.0 respectively. Conclusion: Our training methodology, which involved the train-the-trainer model to deliver simplified HIV and HTN care guidelines, showed improvement in the knowledge of managing hypertension in persons living with HIV and was highly rated by participants.

Training primary healthcare workers on a task-strengthening strategy for integrating hypertension management into HIV care in Nigeria: implementation strategies, knowledge uptake, and lessons learned.

BACKGROUND: With improved access to anti-retroviral drugs, persons living with HIV/AIDS (PLWHA) are living longer but with attendant increased risks of non-communicable diseases (NCDs). The increasing burden of NCDs, especially hypertension, could reverse gains attributed to HIV care. Nurses and Community Health Officers (CHO) in Nigeria are cardinal in delivering primary health care. A task-strengthening strategy could enable them to manage hypertension in HIV care settings. This study aimed to assess their knowledge and practice of hypertension management among Healthcare workers (HCWs) and to explore the challenges involved in conducting onsite training during pandemics. METHODS: Nurses and CHOs in the employment of the Lagos State Primary Health Care Board (LSPHCB), Lagos State, Nigeria, were recruited. They were trained through hybrid (virtual and onsite) modules before study implementation and a series of refresher trainings. A pre-and post-training test survey was administered, followed by qualitative interviews to assess skills and knowledge uptake, the potential barriers and facilitators of task-sharing in hypertension management in HIV clinics, and the lessons learned. RESULTS: Sixty HCWs participated in the two-day training at baseline. There was a significant improvement in the trainees' knowledge of hypertension management and control. The average score during the pre-test and post-test was 59% and 67.6%, respectively. While about 75% of the participants had a good knowledge of hypertension, its cause, symptoms, and management, 20% had moderate knowledge, and 5% had poor knowledge at baseline. There was also an increase in the mean score between the pre-test and post-test of the refresher training using paired t-tests (P < 0.05). Role-playing and multimedia video use improved the participants' uptake of the training. The primary barrier and facilitator of task sharing strategy in hypertension management reported were poor delineation of duties among HCWs and the existing task shifting at the Primary Healthcare Centres (PHC) level, respectively. CONCLUSIONS: The task strengthening strategy is relevant in managing hypertension in HIV clinics in Nigeria. The capacity development training for the nurses and CHOs involved in the Integration of Hypertension Management into HIV Care in Nigeria: A Task Strengthening Strategy (TASSH-Nigeria) study yielded the requisite improvement in knowledge uptake, which is a reassurance of the delivery of the project outcomes at the PHCs.

Organizational readiness to implement task-strengthening strategy for hypertension management among people living with HIV in Nigeria.

BACKGROUND: Hypertension (HTN) is highly prevalent among people living with HIV (PLHIV), but there is limited access to standardized HTN management strategies in public primary healthcare facilities in Nigeria. The shortage of trained healthcare providers in Nigeria is an important contributor to the increased unmet need for HTN management among PLHIV. Evidence-based TAsk-Strengthening Strategies for HTN control (TASSH) have shown promise to address this gap in other resource-constrained settings. However, little is known regarding primary health care facilities' capacity to implement this strategy. The objective of this study was to determine primary healthcare facilities' readiness to implement TASSH among PLHIV in Nigeria. METHODS: This study was conducted with purposively selected healthcare providers at fifty-nine primary healthcare facilities in Akwa-Ibom State, Nigeria. Healthcare facility readiness data were measured using the Organizational Readiness to Change Assessment (ORCA) tool. ORCA is based on the Promoting Action on Research Implementation in Health Services (PARIHS) framework that identifies evidence, context, and facilitation as the key factors for effective knowledge translation. Quantitative data were analyzed using descriptive statistics (including mean ORCA subscales). We focused on the ORCA context domain, and responses were scored on a 5-point Likert scale, with 1 corresponding to disagree strongly. FINDINGS: Fifty-nine healthcare providers (mean age 45; standard deviation [SD]: 7.4, 88% female, 68% with technical training, 56% nurses, 56% with 1-5 years providing HIV care) participated in the study. Most healthcare providers provide care to 11-30 patients living with HIV per month in their health facility, with about 42% of providers reporting that they see between 1 and 10 patients with HTN each month. Overall, staff culture (mean 4.9 [0.4]), leadership support (mean 4.9 [0.4]), and measurement/evidence-assessment (mean 4.6 [0.5]) were the topped-scored ORCA subscales, while scores on facility resources (mean 3.6 [0.8]) were the lowest. CONCLUSION: Findings show organizational support for innovation and the health providers at the participating health facilities. However, a concerted effort is needed to promote training capabilities and resources to deliver services within these primary healthcare facilities. These results are invaluable in developing future strategies to improve the integration, adoption, and sustainability of TASSH in primary healthcare facilities in Nigeria. TRIAL REGISTRATION: NCT05031819.

Study design and protocol of a stepped wedge cluster randomized trial using a practical implementation strategy as a model for hypertension-HIV integration - the MAP-IT trial.

BACKGROUND: As people living with HIV (PLWH) experience earlier and more pronounced onset of noncommunicable diseases (NCDs), advancing integrated care networks and models in low-resource-high-need settings is critical. Leveraging current health system initiatives and addressing gaps in treatment for PLWH, we report our approach using a late-stage (T4) implementation research study to test the adoption and sustainability of a proven-effective implementation strategy which has been minimally applied in low-resource settings for the integration of hypertension control into HIV treatment. We detail our protocol for the Managing Hypertension Among People Living with HIV: an Integrated Model (MAP-IT) trial, which uses a stepped wedge cluster randomized trial (SW-CRT) design to evaluate the effectiveness of practice facilitation on the adoption of a hypertension treatment program for PLWH receiving care at primary healthcare centers (PHCs) in Akwa Ibom State, Nigeria. DESIGN: In partnership with the Nigerian Federal Ministry of Health (FMOH) and community organizations, the MAP-IT trial takes place in 30 PHCs. The i-PARiHS framework guided pre-implementation needs assessment. The RE-AIM framework will guide post-implementation activities to evaluate the effect of practice facilitation on the adoption, implementation fidelity, and sustainability of a hypertension program, as well as blood pressure (BP) control. Using a SW-CRT design, PHCs sequentially crossover from the hypertension program only (usual care) to hypertension plus practice facilitation (experimental condition). PHCs will recruit and enroll an average of 28-32 patients to reach a maximum of 960 PLWH participants with uncontrolled hypertension who will be followed longitudinally for BP outcomes. DISCUSSION: Given the need for integrated NCD-HIV care platforms in low-resource settings, MAP-IT will underscore the challenges and opportunities for integrating hypertension treatment into HIV care, particularly concerning adoption and sustainability. The evaluation of our integration approach will also highlight the potential impact of a health systems strengthening approach on BP control among PLWH. TRIAL REGISTRATION: Clinicaltrials.gov ( NCT05031819 ). Registered on 2nd September 2021.

Nanoconstructs for theranostic application in cancer: Challenges and strategies to enhance the delivery.

Nanoconstructs are made up of nanoparticles and ligands, which can deliver the loaded cargo at the desired site of action. Various nanoparticulate platforms have been utilized for the preparation of nanoconstructs, which may serve both diagnostic as well as therapeutic purposes. Nanoconstructs are mostly used to overcome the limitations of cancer therapies, such as toxicity, nonspecific distribution of the drug, and uncontrolled release rate. The strategies employed during the design of nanoconstructs help improve the efficiency and specificity of loaded theranostic agents and make them a successful approach for cancer therapy. Nanoconstructs are designed with a sole purpose of targeting the requisite site, overcoming the barriers which hinders its right placement for desired benefit. Therefore, instead of classifying modes for delivery of nanoconstructs as actively or passively targeted systems, they are suitably classified as autonomous and nonautonomous types. At large, nanoconstructs offer numerous benefits, however they suffer from multiple challenges, too. Hence, to overcome such challenges computational modelling methods and artificial intelligence/machine learning processes are being explored. The current review provides an overview on attributes and applications offered by nanoconstructs as theranostic agent in cancer.

SARS-CoV-2 Mutations Responsible for Immune Evasion Leading to Breakthrough Infection.

BACKGROUND AND OBJECTIVES: India had faced a devastating second outbreak of COVID-19 infection, in which a majority of the viral sequences were found to be of the B.1.617.2 lineage (Delta-variant). While India and the world focused on vaccination, reports of vaccine-immunity evasion by the virus, termed "breakthrough cases", emerged worldwide. Our study was focused on the primary objective to identify the mutations associated with breakthrough infections SARS-CoV-2. METHODS: In our study, we extracted the SARS-CoV-2 RNA (ribonucleic acid) from reverse transcription-polymerase chain reaction (RT-PCR) positive COVID-19 patients, and 150 random samples were sent for sequencing to the Centre for Cellular & Molecular Biology, Hyderabad. Whole genome sequences of 150 SARS-CoV-2 viral samples were analyzed thoroughly. We mostly found B.1.617 and its sub-lineages in the genomic sequencing results. RESULTS AND INTERPRETATION: On further analysis of patient data, it was seen that nine patients had been vaccinated against the SARS-CoV-2 previously. These nine patients had B.1.617/B.1 or A strains, and all of them had similar genomic variations in spike proteins as well as non-structural proteins (NSPs). The mutations seen in these sequences in the Spike (S), NSPs, and open reading frame (ORF) regions would have produced amino acid changes known to improve viral replication, confer drug resistance, influence host-cell interaction, and lead to antigenic drift. CONCLUSIONS: Increased virulence culminating in vaccine immunity evasion may be inferred from these specific mutations. Our study adds to the growing body of evidence linking rapidly emerging mutations in the S (Spike) and ORF genes of the SARS-CoV-2 genome to immune evasion.

TiO2-modified g-C3N4 nanocomposite for photocatalytic degradation of organic dyes in aqueous solution.

In the current study, a direct S-scheme titanium dioxide/graphitic carbon nitride (TiO2/g-C3N4) heterojunction structure was fabricated via simultaneous calcination of TiO2 precursors and g-C3N4. Guava leaf extract was utilized as a reductant for TiO2 production through a green synthetic method, and g-C3N4 was prepared by thermal decomposition of melamine. The pristine and nanocomposite photocatalysts were characterized by XRD, FTIR, BET, TGA, HRTEM, UV-vis DRS, and PL to elucidate their physicochemical properties. The photocatalytic activity of synthesized photocatalysts was examined through the degradation of rhodamine B (RhB) and methylene blue (MB) dyes under simulated solar light irradiation. The nanocomposite exhibited commendable photocatalytic performances with 96% degradation efficiency of RhB attained in 120 min and 95% degradation efficiency of MB achieved in 150 min. The enhanced photocatalytic activities were attributable to visible light-harvesting characteristics and the formation of an S-scheme heterojunction system between two catalysts which promotes interfacial charge separation efficiency and longer charge carrier lifespan. After 4 consecutive cycles, the degradation efficiencies of both RhB and MB remained above 85%. According to the trapping experiments, OH• and O2 •- radicals were critical in the degradation of RhB, while h+ and O2 •- radicals were dominant in the degradation of MB. The nanocomposite was also tested for elution of actual water pollutants by combining two dyes, and above 90% degradation efficiencies were achieved for both dyes after 240 min.

Inonotus obliquus aqueous extract prevents histopathological alterations in liver induced by environmental toxicant Microcystin.

Environmental toxicants like microcystins are known to adversely impact liver physiology and lead to the increased risk for abnormal liver function and even liver carcinoma. Chaga mushroom (Inonotus obliquus) is reported for various properties mainly antibacterial, antiallergic, anti-inflammatory, antioxidant, and anticancer properties. This study was aimed to assess the effect microcystin (MC-LR) on histopathology of liver in mice and a preventive measure by using aqueous extract of Inonotus obliquus (IOAE). Adult Balb/c mice were administered with MC-LR at 20 â€‹µg/kg body weight, per day, intraperitoneal (i.p.) for 4 weeks. IOAE was treated to one group of MC-LR mice at 200 â€‹mg/kg body weight, per oral, for 4 weeks. Histological staining for liver structural details and biochemical assays for functions were assessed. The results of the study showed that MC-LR drastically reduced the body weight of mice which were restored close to the range of control by IOAE treatment. MC-LR exposed mice showed 1.9, 1.7 and 2.2-fold increase in the levels of SGOT, SGPT and LDH which were restored by IOAE treatment as compared to control (one-fold). MC-LR exposed mice showed reduced level of GSH (19.83 â€‹± â€‹3.3 â€‹µM) which were regained by IOAE treatment (50.83 â€‹± â€‹3.0 â€‹µM). Similar observations were noted for catalase activity. Histological examinations show that MC-LR exposed degenerative changes in the liver sections which were restored by IOAE supplementation. The immunofluorescence analysis of caspase-3 counterstained with DAPI showed that MC-LR led to the increased expression of caspase-3 which were comparatively reduced by IOAE treatment. The cell viability decreased on increasing the concentration of MC-LR with 5% cell viability at concentration of 10 â€‹µg MC-LR/mL as that of control 100% Cell viability. The IC50 was calculated to be 3.6 â€‹µg/ml, indicating that MC-LR is chronic toxic to AML12 mouse hepatocytes. The molecular docking interaction of NF-κB-NIK with ergosterol peroxidase showed binding interaction between the two and showed the plausible molecular basis for the effects of IOAE in MC-LR induced liver injury. Collectively, this study revealed the deleterious effects of MC-LR on liver through generation of oxidative stress and activation of caspase-3, which were prevented by treatment with IOAE.

Effects of Exergaming on College Students' Situational Interest, Self-Efficacy, and Motion Sickness.

Objective: Given the low levels of physical activity (PA) among U.S. college students, the use of exergaming as a supplement to traditional exercise may promote higher levels of motivation and PA. Therefore, this study's purpose was to examine the effect of two different exergames on college students' situational interest (SI), self-efficacy (SE), and equilibrium change (EQC) compared to traditional treadmill walking. Methods: Sixty college students (30 female; Mage = 23.6 ± 4.1 years; MBMI = 23.9 ± 4.0 kg/m2) participated in three separate 20 min exercise sessions: (1) Xbox 360 Kinect Just Dance; (2) Xbox 360 Kinect Reflex Ridge; and (3) traditional treadmill walking at 4.0 mph. Participants' SI, SE, and EQC were measured after each session using a series of validated surveys. Results: A mixed model analysis of covariance (ANCOVA) with repeated measures evaluated mean differences between exercise sessions for all outcomes. Significant main effects were observed between the three exercise sessions (all p < 0.01). Specifically, Just Dance and Reflex Ridge sessions yielded significantly higher SI scores than treadmill exercise, F (10, 49) = 54.61, p < 0.01, η2 = 0.92. In addition, participants experienced significantly lower EQC in Reflex Ridge than in treadmill exercise, F (2, 58) = 4.26, p = 0.02, η2 = 0.13. No differences were identified for SE. Conclusion: The integration of exergaming into traditional exercise routines may help to promote higher levels of SI but not SE amongst college students. RR exergaming also demonstrated low EQC as compared to traditional exercise. Experimental study designs are warranted to provide additional evidence on the efficacy of exergaming.

Sustaining capacity building and evidence-based NCD intervention implementation: Perspectives from the GRIT consortium.

Background: Implementation science has been primarily focused on adoption of evidence-based interventions, and less so on sustainability, creating a gap in the field. The Global Research on Implementation and Translation Science (GRIT) Consortium is funded by the National Heart Lung and Blood Institute (NHBLI) to support the planning, implementation, and sustainability of Late-Stage Phase 4 Translational Research (T4TR) and capacity building for NCD prevention and control in eight low-and middle-income countries (LMICs). This paper highlights perspectives, including barriers, facilitators, opportunities, and motivators for sustaining capacity building and evidence-based hypertension interventions within LMICs. Methods: Guided by the Capacity, Opportunity, Motivation, Behavior (COM-B) Model, this study surveyed GRIT consortium members on the barriers, facilitators, key motivators, and opportunities for sustaining capacity building and evidence-based hypertension interventions in LMICs. Thematic analysis was used to identify themes and patterns across responses. Results: Twenty-five consortium members across all eight sites and from various research levels responded to the survey. Overarching themes identifying facilitators, key motivators and opportunities for sustainability included: (1) access to structured and continuous training and mentorship; (2) project integration with existing systems (i.e., political systems and health systems); (3) adaption to the local context of studies (i.e., accounting for policies, resources, and utilizing stakeholder engagement); and (4) development of interventions with decision makers and implementers. Barriers to sustainability included local policies and lack of infrastructure, unreliable access to hypertension medications, and lack of sufficient staff, time, and funding. Conclusion: Sustainability is an important implementation outcome to address in public health interventions, particularly as it pertains to the success of these initiatives. This study provides perspectives on the sustainability of NCD interventions with a focus on mitigating their NCD burden in LMICs. Addressing multilevel factors that influence the sustainability of capacity building and interventions will have notable implications for other global NCD efforts going forward. Current and future studies, as well as consortium networks, should account for sustainability barriers outlined as it will strengthen program implementation, and long-term outcomes.

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2; MIM# 618321), caused by biallelic pathogenic variants in the NAD(P)HX dehydratase (NAXD) is a rare metabolite repair disorder. It is characterized by progressive neurological deterioration usually associated with a febrile illness. The other common findings include skin lesions, elevated serum or cerebrospinal fluid lactate levels, and brain neuroimaging abnormalities. Currently, variants in NAXD have been reported in eight unrelated individuals including six truncating and six missense variants. We report on an additional individual with characteristic findings of PEBEL2, and an additional finding of sparse scalp hair. A novel missense variant c.301G > A, p.(Ala101Thr) in a homozygous state was identified through exome sequencing. This study adds to the phenotypic and mutational spectrum of PEBEL2. We review the existing phenotypic and genotypic information for the individuals with this neurometabolic condition.

Recent developments in nanotechnology-based printing electrode systems for electrochemical sensors.

In this review, the state-of-the-art of screen, inkjet, and three-dimensional (3D) printing electrode technologies of diverse types, manufacturing processes, and applications are critically reviewed for the first time. Emerging printing electrode-based technologies for advanced fabrication of printed electrode materials have given rise to the development of printed electrode devices and systems, thereby opening new avenues for several electrochemical applications. Additionally, their properties can be fine-tuned for specific electrochemical applications by embedding and/or immobilizing nano-structured materials. Nano-based printed or modified electrodes exhibit attractive features such as enhanced performance, cost-effectiveness, scalability, and high selectivity towards various targeted electroactive analytes. Furthermore, these nano-sized printed electrodes are flexible and portable, and thus are applicable for on-site measurements. However, their performance is affected by the type of printed electrode materials and fabrication methods employed. Hence, this review delves on the various electrode materials, printing methods and their applications for biosensors as well as for the detection of organic and inorganic compounds. The printed electrode materials that focus on properties such as selectivity, sensitivity and limit of detection available in the literature are highlighted in this review. Finally, future prospects, possibilities, and challenges of these advanced printing electrode technologies are deliberated.

The assembly of silica species with alkylamines: Mechanism of wastewater-free synthesis and the application of gel as a catalyst.

Silica species generated by the hydrolysis and condensation of tetraethyl orthosilicate (TEOS) could assemble with alkylamines to form silica gel. Herein, it was evidenced that part of the added amines, including butylamine (BA), octylamine (OA) or dodecylamine (DA), was protonated in the mixture of water and ethanol. Therefore, besides the hydrogen bonding between neutral silica species and the micelles composed of the non-protonated amines (Tanev and Pinnavaia, 1995), there existed strong electrostatic attraction between negatively charged silica species and the micelles composed of the protonated amines. This coexisting assembly mechanism could explain why the uncalcined BA- and OA-gels were millimeter-sized small blocks with large porosities and synthesized without waste water emission, while the uncalcined DA-gel was almost non-porous and formed via precipitation from its reaction medium. The uncalcined BA gel was proved to be efficient as a solid basic catalyst, replacing the commonly used ammonia solution which is easily volatilized and has a pungent smell, for the hydrolysis and condensation of TEOS to prepare silica microspheres.

Mongolian spots in GM1 gangliosidosis: a pictorial report.

GM1 gangliosidosis is a lysosomal storage disorder, characterized by psychomotor deterioration, visceromegaly, facial coarseness, retinal cherry-red spots, and skeletal abnormalities. We report six unrelated patients with GM1 gangliosidosis with extensive Mongolian spots on the trunk and extremities that provided clue to clinical diagnosis. All patients exhibited psychomotor delay, coarse facies, hepatosplenomegaly, hypotonia, and dysostosis multiplex. Four patients had retinal cherry-red spots. The condition was confirmed by identification of very low activities of beta-galactosidase enzyme in peripheral leukocytes and biallelic pathogenic variants in the GLB1 gene. We identified one novel (c.1479G>T) and two known (c.75 + 2dup and c.1369C>T) pathogenic variants in homozygous state in them. Our work ascertains extensive Mongolian spots as a diagnostic handle for early recognition of GM1 gangliosidosis. Though a known feature of GM1 gangliosidosis, considerable variation in the prevalence and ethnic differences are observed. This report illustrates the Mongolian spots pictorially in Indian patients.

Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.

Purine-rich element-binding protein A (PURA) encodes Pur-alpha, a transcriptional activator protein is crucial for normal brain development. Pathogenic variants in PURA are known to cause mental retardation, autosomal dominant 31, characterized by psychomotor delay, absent or poor speech, hypotonia, feeding difficulties, seizures or 'seizure-like' movements, and dysmorphism. PURA-related neurodevelopmental disorder (PURA-related NDD) result either from heterozygous pathogenic sequence variants in PURA or microdeletions spanning PURA. Singleton whole-exome sequencing (WES) was performed for the proband after a clinical diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) was made. The pathogenic variant was validated by Sanger sequencing in the proband and parents. Comparison of PURA-related NDD and IHPRF was carried out. WES identified a novel, de-novo stop-gain variant c.178G>T in PURA. In addition to typical phenotype, subject also had hypersensitivity to various stimuli which was not reported in PURA-related NDD. Significant phenotypic overlap was observed in subjects with PURA-related NDD and IHPRF especially with IHPRF2, caused by biallelic pathogenic variants in UNC80. This study expands the phenotypic and mutational spectrum of PURA-related NDD. We propose PURA-related NDD to be considered as a close differential diagnosis of IHPRF.