Transferring care to enhance access to early-phase cancer clinical trials: Protocol to evaluate a novel program.

Involving diverse populations in early-phase (phase I and II) cancer clinical trials is critical to informed therapeutic development. However, given the growing costs and complexities of early-phase trials, trial activation and enrollment barriers may be greatest for these studies at healthcare facilities that provide care to the most diverse patient groups, including those in historically underserved communities (e.g., safety-net healthcare systems). To promote diverse and equitable access to early-phase cancer clinical trials, we are implementing a novel program for the transfer of care to enhance access to early-phase cancer clinical trials. We will then perform a mixed-methods study to determine perceptions and impact of the program. Specifically, we will screen, recruit, and enroll diverse patients from an urban, integrated safety-net healthcare system to open and active early-phase clinical trials being conducted in a university-based cancer center. To evaluate this novel program, we will: (1) determine program impact and efficiency; and (2) determine stakeholder experience with and perceptions of the program. To achieve these goals, we will conduct preliminary cost analyses of the program. We will also conduct surveys and interviews with patients and caregivers to elucidate program impact, challenges, and areas for improvement. We hypothesize that broadening access to early-phase cancer trials conducted at experienced centers may improve equity and diversity. In turn, such efforts may enhance the efficiency and generalizability of cancer clinical research.

Association of Hypomagnesemia With Diabetic Complications.

OBJECTIVE: The study aimed to study the association of hypomagnesemia with diabetic complications in type 2 diabetics. MATERIALS AND METHOD: This cross-sectional study, conducted at a Ghurki Trust Teaching Hospital, spanned from January to June 2023 and included 100 randomly selected diabetic patients aged 30-70. With institutional board approval and informed consent, the study focused on assessing hypomagnesemia, using a standard level of below 1.6 mg/dL, ensuring participant confidentiality and privacy. Data collected through physical assessments were analyzed using IBM SPSS Statistics for Windows, Version 24.0 (Released 2016; IBM Corp., Armonk, New York, United States), including descriptive statistics, analysis of variance (ANOVA), and paired t-test. RESULTS: A total of 100 diabetic admitted patients were randomly selected for the study ages from 30 to 70 years irrespective of their gender. The mean age of the participants was 53.86±9.74 years. The mean HbA1c of the participants was 8.7±2.32. Forty-eight percent of them had HbA1c less than 8, while 52% had greater than 8 HbA1c. The mean HbA1c in the hypomagnesemia group was 10.8±1.98, while in the normomagnesemia group, it was 8.9±2.2. There were 58.97% of foot ulcers in Group 1, while in Group 2, there were 31.14%. Around 38.46% and 14.75% had neuropathy in Groups 1 and 2, respectively. Nephropathy in Group 1 was 28.20%, while in Group 2, it was 11.47%. Around 69.23% of Group 1 had retinopathy and 37.70% had retinopathy in Group 2. Hypertension was 23.07% in Group 1 and 37.70% in Group 2; moreover, 7.69% and 8.19% had coronary diseases in Groups 1 and 2 accordingly. CONCLUSION:  The current study concluded that hypomagnesemia was found to have an association with diabetic complications like neuropathy, nephropathy, foot ulcers, and poor glycemic control as evidenced by HbA1c.

Educational Paradigms in Islamic Medical History: A Review.

The rise of Islam in Arabia witnessed a scientific pursuit from 8th CE to 14th CE in its vast dominion. Medicine was one among many disciplines that was reshaped during the golden ages of Islamic world. Physicians and scholars from diverse faiths and background flocked in learning centers of Baghdad, Cordoba, and other cities. A multicultural environment of medical research was evolved with fundings from state. From medical teaching and clinical training to the licensing of physicians, many of the modern attributes of medical education were pioneered in Islamic world. The scholarly transfusion from European territories of Islamic world to the Western world in medieval era laid the foundation of modern medical education.

Mechanical and Durability Characterization of Hybrid Recycled Aggregate Concrete.

The recycling of construction and demolition waste (CDW) for the extraction of recycled concrete aggregates (RCAs) to be used to produce recycled aggregate concrete (RAC) is widely acknowledged internationally. However, CDW not only contains concrete debris but may also contain burnt clay bricks. The recycling of such CDW without the segregation of different components would result in recycled aggregates having different proportions of concrete and brick aggregates. The utilization of these aggregates in concrete requires a detailed investigation of their mechanical and durability properties. In this regard, the present study focused on investigating the mechanical and durability properties of hybrid recycled aggregate concrete (HRAC) made by the 100% replacing of natural aggregates with recycled brick (RBAs) and RCA in hybrid form. The partial replacement of cement with fly ash was also considered to reduce the corban footprint of concrete. An extensive experimental program was designed and carried out in two phases. In the first phase, a total of 48 concrete mixes containing coarse RBA and RCA in mono and hybrid forms were prepared and tested for their compressive strength. The test results indicated that the compressive strength of HRAC is greatly affected by the proportion of coarse RBA and RCA. In the second phase, based on the results of the first phase, eight concrete mixes with the most critical proportions of RBA and RCA in hybrid form were selected to evaluate their mechanical and durability performance. In addition, four mixes with natural aggregates were also prepared for comparison purposes. To evaluate the mechanical properties of the concrete mixes, compressive strength and modulus of rupture (MOR) tests were performed, while for the evaluation of durability properties, water absorption and behavior after exposure to aggressive conditions of acidic and brine solutions were studied. The results revealed that a 20% replacement of cement with fly ash resulted in acceptable mechanical and durability properties of HRAC intended to be used for making concrete bricks or pavers.

Smart transactive energy based approach for planning and scheduling in multi-looped microgrid distribution network across planning horizon.

In this paper, an innovative transactive energy approach is proposed as viable option for coordinated distribution system planning across a certain horizon. The proposed approach is evaluated across a multi-looped (meshed) test system and is implemented with load growth having prosumers participating in the electrical market in transactive energy system aiming at evaluation on techno-economic basis. Apart from prosumer sensitivity analysis, evaluations have been carried across reducing total production cost of energy, reduction in per unit price, active power losses. Whereas improving voltage profile, cost of scheduling and consumer per kWh purchase and sales in comparison with traditional counterpart. The proposed framework includes optimization algorithm aiming at sources scheduling and IEEE 69 system for validation. The algorithm minimizes cost, maximizes energy efficiency, increases renewable energy mix and reduces consumers cost of energy purchase. Reduction of 51.44 % in cost of energy is achieved, whereas loss reduction of 12.6% is achieved. The comparison of IEEE 69-bus base case with the 10 %, 15% and 20% transactive energy applied with simulations to evaluate performance parameters that will directly benefit both prosumers and utility alike in-terms of low bills and further reduction of stress on the grid amid load growth across multiple years.

Role of telerehabilitation in the rehabilitation of children with cerebral palsy during COVID-19: A review.

Individuals with cerebral palsy (CP) have limited mobility and are unable to actively participate in tasks that are part of their daily living. Thus, continuous therapeutic sessions are required to keep such individuals active and engaged in the environment. Due to the coronavirus disease of 2019 (COVID-19) lockdowns, rehabilitation for children with CP was inhibited which consequently put them at risk of losing their functional gains which were obtained through previous in-person therapies. In order to avoid this, an alternate to conventional therapy was required and this rendered it necessary to review the role of telerehabilitation (TR) and its various modes for the rehabilitation of children with CP. This study aimed to explore the effectiveness of TR for children with CP during COVID-19 through the present literature and to determine if TR is an alternate to conventional physical therapy in children with CP during the coronavirus outbreak. This scoping review was conducted by searching different databases such as PubMed, Cochrane Collaboration, Medline, and Google Scholar on the basis of inclusion criteria. Screening was performed from January 2019 to June 2022 and the initial screening attempt returned 469 studies. After applying the aforementioned criteria, all impertinent studies were excluded which resulted in 28 studies being included for this review as they contained information about the effectiveness of TR on children with CP during COVID-19. These 28 articles included randomised controlled trials, surveys, reviews, clinical trials, case reports, prospective studies, editorials, and longitudinal studies. Three out of the 7 randomised controlled trial studies revealed that action observation treatment can be a useful approach for TR in child with CP during similar pandemics. The other 3 studies supported the use of computer-based games, robots, nonimmersive virtual reality, and wearable haptic devices as a significant means of TR in child with CP as an alternate to routine therapy during COVID-19. TR is an affable mode of rehabilitation specifically for the pediatric population. In the future, it can be an alternate to routine therapy for those who are unlikely to get daily access to in-person therapeutic sessions due to various reasons or circumstances.

Sensitivity Profile of Fosfomycin, Nitrofurantoin, and Co-trimoxazole Against Uropathogens Isolated From UTI Cases in a Secondary Care Center, KSA.

Background Fosfomycin, nitrofurantoin, and co-trimoxazole are cheap and effective first-line oral antimicrobials in cases of uncomplicated cystitis in males and non-pregnant females. Fosfomycin and nitrofurantoin are called urinary antiseptics because these two drugs are primarily excreted in the kidney and concentrated in the urine without systemic effect. The present study was designed to evaluate the in vitro activities of fosfomycin, nitrofurantoin, and co-trimoxazole against uropathogens isolated at King Khalid Hospital Al-Majmaah, KSA. Methods The study was conducted at the King Khalid Hospital Al Majmaah, KSA, from September 1, 2021, until February 28, 2022. The patients' urine samples were inoculated on the Cystein Lactose Electrolytes Deficient (CLED) medium, and uropathogens were isolated. The organisms' identification and sensitivity testing against cotrimoxazole, fosfomycin, and nitrofurantoin was conducted using a Microscan automated analyzer, the MicroScan WalkAway Beckman Coulter, Sacramento, CA, USA. Results The study comprised non-repeat 137 patients who were either admitted to the hospital or treated as outpatients, yielding a total of 147 isolates. Nitrofurantoin showed a lower resistance rate, around 20% (n = 29), followed by fosfomycin at 23% (n = 34). The resistance rate of cotrimoxazole was 43% (n = 63). Overall, nitrofurantoin and fosfomycin showed relatively lower resistance against all isolates. Conclusions Being cheap and effective, we propose that fosfomycin and nitrofurantoin be used as first-line treatments in patients presenting with uncomplicated UTIs.

The phosphatidylserine targeting antibody bavituximab plus pembrolizumab in unresectable hepatocellular carcinoma: a phase 2 trial.

Immune checkpoint inhibitors targeting PD-1/L1 have modest efficacy in hepatocellular carcinoma as single agents. Targeting membranous phosphatidylserine may induce pro-inflammatory and -immune stimulating effects that enhance immunotherapy activity. This hypothesis was tested in a single-arm phase 2 trial evaluating frontline bavituximab, a phosphatidylserine targeting antibody, plus pembrolizumab (anti-PD-1) in patients with unresectable hepatocellular carcinoma (NCT03519997). The primary endpoint was investigator-assessed objective response rate among evaluable patients, and secondary end points included progression-free survival, incidence of adverse events, overall survival, and duration of response. Among 28 evaluable patients, the confirmed response rate was 32.1%, which met the pre-specified endpoint, and the median progression-free survival was 6.3 months (95% CI, 1.3-11.3 months). Treatment related-adverse events of any grade occurred in 45.7% of patients, with grade 3 or greater adverse events in 14.3% of patients. Adverse events of any cause were observed in 33 patients (94.3%), with grade 3 or greater adverse events in 11 patients (31.4%). Prespecified exploratory analyses of baseline tumor specimens showed that a depletion of B cells, and the presence of fibrotic tissue and expression of immune checkpoints in stroma was associated with tumor response. These results suggest that targeting phosphatidylserine may lead to synergistic effects with PD-1 blockade without increasing toxicity rates, and future studies on this therapeutic strategy may be guided by biomarkers characterizing the pre-treatment tumor microenvironment.

Investigating the Cognitive Style of Patients With Substance Use Disorder: A Cross-Sectional Study.

Background The causal attributions we make to the events in our lives reflect our Cognitive Style. The use of substances can be precipitated by stressful life events, and substance use can be a result of maladaptive coping to alleviate negative effects in stressful situations. So, individuals with substance dependence may infer situations differently. The inferences made about the cause of these stressful events can give an understanding of their cognition and can further help in therapeutic interventions. Purpose The present study aims to assess the cognitive style of young patients with substance use disorder. Methods A cross-sectional research design was used and a total of 50 participants were chosen through purposive sampling from the in-patient departments of Psychiatric Hospitals and De-addiction centers. The Alcohol, Smoking, and Substance Involvement Screening Test (ASSIST) was used to assess the specific substances used by the patients and the Cognitive Style Questionnaire-Short form (CSQ-SF) was used to assess the negative cognitive style of the patients. Results Results revealed a more negative cognitive style among young patients with Dual Substance Use than patients with Multiple Substance Use, indicating that patients with Substance Use Disorder tend to attribute stressful events to causes like internal (because of self), global (applicable to all domains of life) and stable (consistent), as well as the negative consequences (leading to other bad things) and self-worth implications (something wrong in self).

Impact of fixed dental prosthesis on neuroimaging: assessment of artefacts.

Objectives: To determine the frequency and extent of artefacts in magnetic resonance imaging and/or computed tomography scans of head caused by fixed dental prosthesis. METHODS: The retrospective study was conducted at Aga Khan University Hospital from July to December 2021, and comprised magnetic resonance imaging and/or computed tomography scans from January 2015 to December 2020 of the head of individuals with existing fixed dental prosthetic work at the time of exposure. They were analysed for the presence of artefacts. The association between artefacts and the presence of fixed dental prosthesis was explored. Data was analysed using SPSS 23. RESULTS: Of the 297 images evaluated, 173 (58%) were magnetic resonance imaging scans, and 124(42%) were computed tomography scans. The most common artefacts was grade I 148(49.8%), followed by grade II 140(47.1%) and grade III 9(3%). There was no significant association between fixed dental prosthesis and the artefacts (p>0.05). Conclusion: There should be no reservations in placing fixed metal prosthesis in individuals on account of future brain scans.

Charge transport mechanisms of PbSnSe2 and observation of transition from direct to Fowler-Nordheim tunneling.

In this study, we report the observation of various conduction mechanisms in mechanically exfoliated PbSnSe2 based on temperature-dependent current and voltage characteristics. A transition from direct tunneling to Fowler-Nordheim tunneling in PbSnSe2 was observed at 2.63 V. At lower temperatures, the 3D Mott variable range hopping model fits the data, yielding a density of states of ∼8.80 × 1020 eV-1 cm-3 at 2 V. The values of Whop and Rhop were 64 meV and 22.7 nm, respectively, at 250 K. The Poole-Frenkel conduction was observed in the Au/PbSnSe2/Au device and the dielectric constant of PbSnSe2 was calculated to be 1.4. At intermediate voltages, a space charge limited current with an exponential distribution of traps was observed and a trap density of ∼9.53 × 1013 cm-3 and a trap characteristic temperature of 430 K were calculated for the Au/PbSnSe2/Au device.

Heavy metals prediction in coastal marine sediments using hybridized machine learning models with metaheuristic optimization algorithm.

This study proposes different standalone models viz: Elman neural network (ENN), Boosted Tree algorithm (BTA), and f relevance vector machine (RVM) for modeling arsenic (As (mg/kg)) and zinc (Zn (mg/kg)) in marine sediments owing to anthropogenic activities. A heuristic algorithm based on the potential of RVM and a flower pollination algorithm (RVM-FPA) was developed to improve the prediction performance. Several evaluation indicators and graphical methods coupled with visualized cumulative probability function (CDF) were used to evaluate the accuracy of the models. Akaike (AIC) and Schwarz (SCI) information criteria based on Dickey-Fuller (ADF) and Philip Perron (PP) tests were introduced to check the reliability and stationarity of the data. The prediction performance in the verification phase indicated that RVM-M2 (PBAIS = -o.0465, MAE = 0.0335) and ENN-M2 (PBAIS = 0.0043, MAE = 0.0322) emerged as the best model for As (mg/kg) and Zn (mg/kg), respectively. In contrast with the standalone approaches, the simulated hybrid RVM-FPA proved merit and the most reliable, with a 5 % and 18 % predictive increase for As (mg/kg) and Zn (mg/kg), respectively. The study's findings validated the potential for estimating complex HMs through intelligent data-driven models and heuristic optimization. The study also generated valuable insights that can inform the decision-makers and stockholders for environmental management strategies.

Harnessing probiotics and prebiotics as eco-friendly solution for cleaner shrimp aquaculture production: A state of the art scientific consensus.

In recent years, the advancement and greater magnitude of products, which led to the intensification in shrimp aquaculture is the result of utilization of modern tools and synchronization with other fields of science like microbiology and biotechnology. This intensification led to the elevation of disorders such as the development of several diseases and complications associated with biofouling. The use of antibiotics in aquaculture is discouraged due to their certain hazardous paraphernalia. Consequently, there has been a growing interest in exploring alternative strategies, with probiotics and prebiotics emerging as environmentally friendly substitutes for antibiotic treatments in shrimp aquaculture. This review highlighted the results of probiotics and prebiotics administration in the improvement of water quality, enhancement of growth and survival rates, stress resistance, health status and disease resistance, modulation of enteric microbiota and immunomodulation of different shrimp species. Additionally, the study sheds light on the comprehensive role of prebiotics and probiotics in elucidating the mechanistic framework, contributing to a deeper understanding of shrimp physiology and immunology. Besides their role in growth and development of shrimp aquaculture, the eco-friendly behavior of prebiotics and probiotics have made them ideal to control pollution in aquaculture systems. This comprehensive exploration of prebiotics and probiotics aims to address gaps in our understanding, including the economic aspects of shrimp aquaculture in terms of benefit-cost ratio, and areas worthy of further investigation by drawing insights from previous studies on different shrimp species. Ultimately, this commentary seeks to contribute to the evolving body of knowledge surrounding prebiotics and probiotics, offering valuable perspectives that extend beyond the ecological dimensions of shrimp aquaculture.

Medicines optimization prior to discharge in patients admitted to hospital with heart failure.

AIMS: Approximately half of patients with heart failure and a reduced ejection fraction (HeFREF) are discharged from hospital on triple therapy [angiotensin-converting enzyme inhibitors (ACE-Is) or angiotensin receptor blockers (ARBs), beta-blockers (BBs), and mineralocorticoid receptor antagonists (MRAs)]. We investigated what proportion of patients are on optimal doses prior to discharge and how many might be eligible for initiation of sacubitril-valsartan or sodium-glucose co-transporter-2 inhibitors (SGLT2Is). METHODS AND RESULTS: Between 2012 and 2017, 1277 patients admitted with suspected heart failure were enrolled at a single hospital serving a local community around Kingston upon Hull, UK. Eligibility for sacubitril-valsartan or SGLT2I was based on entry criteria for the PIONEER-HF, DAPA-HF, and EMPEROR-Reduced trials. Four hundred fifty-five patients had HeFREF with complete data on renal function, heart rate, and systolic blood pressure (SBP) prior to discharge. Eighty-three per cent of patients were taking an ACE-I or ARB, 85% a BB, and 63% an MRA at discharge. More than 60% of patients were eligible for sacubitril-valsartan and >70% for SGLT2I. Among those not already receiving a prescription, 37%, 28%, and 49% were eligible to start ACE-I or ARB, BB, and MRA, respectively. Low SBP (≤105 mmHg) was the most frequent explanation for failure to initiate or up-titrate therapy. CONCLUSIONS: Most patients admitted for heart failure are eligible for initiation of life-prolonging medications prior to discharge. A hospital admission may be a common missed opportunity to improve treatment for patients with HeFREF.

Rapid Design of an ICU Ventilator: An Approach Based on Smart Switching of Compressed Air-Oxygen.

Breathing support is provided by regulating volume or pressure of lungs using ventilators. Due to COVID-19 pandemic, there was a sudden shortage of resuscitating devices such as ventilators. Additionally, ventilators being one of the primary critical care devices are also very costly. In order to address this situation, a number of low-cost designs have been proposed, however, many of these lack either an efficient control system or a hardware comparable to a standard ICU ventilator. In this regard, this article presents a comprehensive cost-effective solution that covers all aspects of the ventilator design (named as NED-Vent) such as hardware/pneumatic assembly, electronic design, user interface and control system. The proposed design works on compressed air-oxygen switching via proportional valves to produce basic volume and pressure modes as well as their derivatives such as assist ventilation, intermittent ventilation and spontaneous modes. The NED-Vent also features an interactive single-knob-single-touch user interface along with an automated mechanism for adjusting air-oxygen ratio in breathing gas mixture as an improvement on existing designs. The pressure regulated control is based on two mathematical models of human lungs with dynamic lung parameters estimated using machine learning approach. Additionally, the controller is tuned to optimized stability using Jury's Test and Ziegler-Nichols methods. The obtained results of breath profile are validated for the employed mathematical models (SLSC & SLMC) as well as the tuning methods in compliance with the tolerances provided by international standards.

An updated systematic review on toothbrush contamination: An overlooked oral health concern among general population.

OBJECTIVES: The present systematic review was conducted to give an overview of toothbrush contamination among the general population and the factors affecting toothbrush contamination with an evidence-based approach. DATA/SOURCES: Medline (Pub Med), CINAHL Plus, Cochrane Library and Dentistry and Oral Health Sciences Source were searched for the results after applying the search strategy from January 2012 to May 2022, following inclusion and exclusion criteria. The data were collected using a self-made data collection form on study characteristics, population attributes and the main features, including the study's outcomes. The methodological quality of the included studies was independently evaluated based on the Joanna Briggs Institute's (JBI) critical appraisal checklist for cross-sectional studies and the Risk of Biasness Tool-1 (Rob-1) for randomized controlled trials (RCTs). A descriptive analysis of the included studies was done using SWiM guidelines. The impact of charcoal and non-charcoal brushes on toothbrush disinfection was quantitatively analysed using a forest plot. STUDY SELECTION: Of the 687 studies screened by title and abstract, 27 articles were selected for full-text evaluation using the EndNote reference program (Ver. X9.2). From these, 15 qualified and were included in the systematic review. Among the selected studies, eight were RCTs, six were cross-sectional studies, and the remaining one was an in vitro experimental study. CONCLUSIONS: The toothbrush becomes contaminated even after its first usage, and the contamination level rises with continued use. There are a number of factors that lead to the contamination of brushes, such as increased humidity brought on by a plastic cover or a toilet setting. Charcoal brushes show significant efficacy as compared to regular bristles in reducing toothbrush contamination; however, more RCTs are needed to further assess its efficacy. Nevertheless, rinsing with chlorhexidine mouthwash after daily brushing shows favourable results.

Hospital admissions in the last year of life of patients with heart failure.

AIM: To explore the frequency, causes, and pattern of hospitalisation for patients with chronic heart failure (HF) in the 12 months preceding death. We also investigated cause of death. METHODS: Patients referred to a secondary care HF clinic were routinely consented for follow-up between 2001 and 2020 and classified into three phenotypes: (i) HF with reduced ejection fraction (HFrEF), (ii) HF with preserved ejection fraction (HFpEF) with plasma N-terminal pro B-type natriuretic peptide (NT-proBNP) 125-399 ng L-1, and (iii) HFpEF with NT-proBNP ≥400 ng L-1. Hospital admissions in the last year of life were classified as: HF, other cardiovascular (CV), or non-cardiovascular (non-CV). The cause of death was systematically adjudicated. RESULTS: A total of 4925 patients (38% women; median age at death 81 [75-87] years) had 9127 hospitalisations in the last year of life. The median number of hospitalisations was 2 (1-3) and total days spent in hospital was 12 (2-25). Out of the total, 83% of patients had ≥1 hospitalisation but only 20% had ≥1 HF hospitalisation; 24% had ≥1 CV hospitalisation; 70% had ≥1 non-CV hospitalisation. Heart failure hospitalisations were most common in patients with HFrEF, but in all groups, at least two thirds of admissions were for non-CV causes. There were 788 (16%) deaths due to progressive HF, of which 74% occurred in hospital. CONCLUSION: For patients with chronic HF in the last year of life, most hospitalisations were for non-CV causes regardless of HF phenotype. Most patients had no HF hospitalisations in their last year of life. Most deaths were from causes other than progressive HF.

MXene/AgNW composite material for selective and efficient removal of radioactive cesium and iodine from water.

Toxic fission products, such as cesium (137Cs) and iodine (129I) are of great concern because of their long half-lives and high solubility in water. The simultaneous removal of Cs and I using a single adsorbent is an area of increasing interest. In this study, MXene/silver nanowire (AgNW) composite was synthesized through physical mixing and employed for simultaneous removal of iodide (I-) and cesium (Cs+) ions from contaminated water. The MXene/AgNW composite demonstrated excellent adsorption capacities of 84.70 and 26.22 mg/g for I- and Cs+, respectively. The experimental data supported the hypothesis of multilayer adsorption of Cs+ owing to the inter-lamellar structures and the presence of heterogeneous adsorption sites in MXene. The interaction between I- and the AgNW involved chemisorption followed by monolayer adsorption. MXene/AgNW composite material exhibited promising results in the presence of competitive ions under extreme pH conditions. Thus, synthesized composite materials holds promising potential as an adsorbent for the remediation of radioactive liquid waste.

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.

EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.(Gln61 ∗)) in the NECTIN4 gene. The variant segregated perfectly with the disorder within the family. The candidate variant was absent in 50 in-house exomes pertaining to other disorders from the same population. In addition to the previously reported clinical phenotype, an upper lip cleft was found in one of the affected members as a novel phenotype that is not reported by previous studies in EDSS1 patients. Therefore, the study presented here, which was conducted on the Kashmiri population, is the first to document a NECTIN4 mutation associated with the upper lip cleft as a novel phenotype. This finding broadens the molecular and phenotypic spectrum of EDSS1.