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Pharmaceutical active compounds (PACs) are under consideration due to their potential risk to human health and the ecosystem. Researchers are exploring economical and effective wastewater treatment methods to address these issues. Conventional wastewater treatment facilities cannot successfully remove PACs. The co-existence of several PACs and various microalgal species provides an opportunity for microalgae-based bioremediation of PACs. This review paper focuses primarily on antibacterial resistance genes (ARGS), removal of PACs through microalgal systems, essential factors influencing PACs removal, ecotoxicity of microalgae, bioprospecting strategy for microalgae, and challenges and future aspects for microalgae in PACs removal. [ABSTRACT FROM AUTHOR]

Byline: M. A. Khan, M. Ajab. Khan, G. Mujtaba and M. Hussain ABSTRACT This study contributes to ethnobotanical knowledge of Poonch valley, Azad Kashmir (Northern Pakistan). In the area studied, [...]

Change of High unique range pictures to Low powerful range pictures is still territory of worry in Picture preparing area. The Tone mapped Administrators are one such administrators used to change over HDR to LDR for better perception in down to earth Standard LDR shows. There is wide assortment of Tone mapped pictures for wide assortment of viable applications, so which Tone mapped administrator (TMO) is ideal, so without a fitting investigation and quality estimation, correlation of Tone mapped administrators is impossible. With the end goal to play out this examination, emotional rating approach is best evaluation technique, however its execution is exceptional its very costly and additional tedious one, also, correctly when come to streamlining structures its very hard to inserted. Here, the proposed Calculation proposes a novel Quality estimation Calculation for TMOs i.e. Target quality evaluation calculation by joining the Changed auxiliary comparability list esteems and normal pictures insights esteems. The proposed tone-mapped image quality index (TMQI) has good correlation as in subjective ranking score. [ABSTRACT FROM AUTHOR]

Low lipid yield is a major bottleneck towards the scale-up application of microalgae for biodiesel production. The focus of this study was to improve the lipid production of Dunaliella tertiolecta (a marine microalga) by altering the concentration of salinity and nitrogen (as nutrients). The unique aspect of this study was to investigate the interactive effect of nitrogen and salinity on lipid production and their correlation with biomass yield and nitrogen uptake. In this experiment, microalgae were grown under various combinations of salinity and nitrogen. At first, lipid production was observed under varied nitrogen concentration (0-75 mg L-1 as NaNO3) and fixed salinity, 37.7 Practical Salinity Unit (PSU). The maximum cell growth rate of 288.4 mg L-1 d-1 and lipid production of 29.3 % were achieved at 75 mg L-1 of NaNO3. Now, this concentration of nitrogen was fixed and the effects of salinity concentrations were observed. The lipid production increased to 34 %, and cell growth rate decreased to 201.3 mg L-1 d-1 at 3.77 PSU of salinity. However, further reduction of the nitrogen concentration down to 18.75 mg L-1 of NaNO3 increased the lipid production to 42 % and decreased biomass to 0.64 g L-1. It was also found that lipid production was linearly correlated with nitrogen uptake. Microalgae cells consumed all of the nitrogen in the first 24 hours of acclimation; however, lipid yield did not change much over time. [ABSTRACT FROM AUTHOR]

The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. We utilized homozygosity mapping, Sanger sequencing, targeted capture of known deafness genes with massively parallel sequencing and whole exome sequencing to identify the molecular basis of hearing loss in these families. Variants of the known deafness genes were found in 69% of the participating families with the SLC26A4, GJB2, MYO15A, TMC1, TMPRSS3, OTOF, MYO7A and CLDN14 genes together accounting for hearing loss in 54% of the families. We identified 20 reported and 21 novel variants in 21 known deafness genes; 16 of the 20 reported variants, previously associated with stable, profound deafness were associated with moderate to severe or progressive hearing loss in our families. These data point to a prominent role for genetic background, environmental factors or both as modifiers of human hearing loss severity. [ABSTRACT FROM AUTHOR]

The ongoing debate surrounding coronary artery bypass grafting (CABG) with or without cardiopulmonary bypass persists, particularly in individuals with left ventricular dysfunction. The objective of this study was to evaluate the safety and efficacy of these 2 strategies through a comprehensive meta-analysis of existing studies. A systematic search of PubMed, EMBASE, Web of Science, and the Cochrane Central Registry was conducted from inception to July 2023. The primary focus was on studies comparing on-pump versus off-pump CABG as the primary treatment for multivessel coronary artery disease in patients with left ventricular dysfunction (ejection fraction ≤40%), with mortality as the primary outcome. The meta-analysis included 26 studies with a total of 35,863 patients. The results revealed a significant reduction in mortality risk [risk ratio (RR), 0.75; 95% confidence interval (CI), 0.60-0.93; P = 0.009] and other perioperative morbidities associated with off-pump CABG. These included stroke (RR, 0.67; 95% CI, 0.54-0.82; P = 0.0002), myocardial infarction (RR, 0.74; 95% CI, 0.56-0.97; P = 0.03), pulmonary complications (RR, 0.71; 95% CI, 0.55-0.92; P = 0.010), postoperative transfusion (RR, 0.70; 95% CI, 0.55-0.88; P = 0.002), neurological dysfunction (RR, 0.80; 95% CI, 0.64-1.00; P = 0.05), infection (RR, 0.74; 95% CI, 0.56-0.97; P = 0.03), renal failure (RR, 0.79; 95% CI, 0.67-0.95; P = 0.010), and reoperation for bleeding (RR, 0.66; 95% CI, 0.52-0.84; P = 0.0006). However, no significant difference was observed between the 2 groups regarding postoperative atrial fibrillation (RR, 0.97; 95% CI, 0.84-1.12; P = 0.69). In conclusion, off-pump CABG demonstrates a lower perioperative mortality risk and improved overall early outcomes compared with on-pump techniques in individuals with reduced left ventricular function., Competing Interests: Disclosure: S.M.S is a consultant to Artivion, Abbott, and JOMDD. The remaining authors declare no conflict of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

The presence of hazardous dyes in wastewater poses significant threats to both ecosystems and the natural environment. Conventional methods for treating dye-contaminated water have several limitations, including high costs and complex operational processes. This study investigated a sustainable bio-sorbent composite derived from the Capparis decidua plant and eggshells, and evaluated its effectiveness in removing anionic dyes namely tartrazine (E-102), methyl orange (MO), and their mixed system. The research examines the influence of initial concentration, contact time, pH, adsorbent dosage, and temperature on the adsorption properties of anionic dyes. Optimal removal of tartrazine (E-102), methyl orange (MO), and their mixed system was achieved at a pH of 3. The equilibrium was achieved at 80 min for MO and mixed systems, and 100 min for E-102. The adsorption process showed an exothermic nature, indicating reduced capacity with increasing temperature, consistent with heat release during adsorption. Positive entropy values indicated increased disorder at the solid-liquid interface, attributed to molecular rearrangements and interactions between dye molecules and the adsorbent. Isotherm analysis using Langmuir, Freundlich, Temkin, and Redlich-Peterson models revealed that the Langmuir model best fit the experimental data. The maximum adsorption capacities of 50.97 mg/g, 52.24 mg/g, and 56.23 mg/g were achieved for E-102, MO, and the mixed system under optimized conditions, respectively. The pseudo-second-order kinetic model demonstrated the best fit, indicating that adsorption occurs through physical and chemical interactions such as electrostatic attraction, pore filling, and hydrogen bonding. Hence, the developed bio-sorbent could be a sustainable and cost-effective solution for the treatment of anionic dyes from industrial effluents., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Textile and pharmaceutical effluents contain significant amounts of dyes and antibiotics, which pose a serious threat to the ecosystem when discharged directly. Therefore, they should be treated by facile treatment techniques using low-cost materials. Layered double hydroxide (LDH) and its hybrids have emerged as robust and economic adsorbents for water treatment. Herein, magnesium/aluminum LDH and its starch-based composite were synthesized by a co-precipitation technique. The physicochemical features of the developed adsorbents were thoroughly characterized using various analytical tools. The developed materials were tested for the eradication of methylene blue (MB) and amoxicillin (AMX) in batch mode adsorption by varying operating conditions. Adsorption performance depends on the solution's pH. Under optimum adsorption conditions of pH 11, adsorbent dosage of 50 mg/L, and treatment time of 120 min, starch-impregnated MgAl-LDH exhibited maximum MB and AMX adsorption capacities of 114.94 and 48.08 mg/g, respectively. The adsorption mechanism states that hydrogen bonds and weak van der Waals forces are responsible for the removal of pollutants by the developed materials. Moreover, equilibrium and kinetic studies revealed that the removal of dye and antibiotic followed the Freundlich and Langmuir models with the pseudo-second-order reaction kinetics, respectively. The spent adsorbents were regenerated using 0.1 M HCl (for MB) and methanol (for AMX) eluent, and reusability studies ensured that the developed adsorbents retained their performance for up to four consecutive adsorption/desorption cycles. MgAl-LDH and its starch-based hybrid could thus be used to effectively remove organic contaminants from wastewater streams on a commercial scale., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Iodine is an essential microelement for humans and its deficiency leads to iodine deficiency disorder (IDD) which is a common problem faced by people in hilly areas. Biofortification of iodine is an option to overcome the IDD problem. Herein, we investigated the iodine uptake and accumulation in the edible portion of vegetables such as Brassica napus (BNP) and Brassica pekinensis (BPK) which were grown on two different soils such as sandy soil (SS) and silty loam soil (SLS) with different concentrations of iodine application (used in sodium iodide form) such as 0 ppm, 50 ppm, and 100 ppm. The concentration of iodine was determined by the oxidation of iodide, and nutrients were examined by double acid digestion. Different concentrations of iodine were noticed in silty loam and sandy soils, roots, and shoots of BNP and BPK, while the concentration follows the order: soils > roots > shoots. Iodine concentrations in the roots of BNP and BPK ranged from 46 to 223.7 μg/g which shows a strong correlation with other soil nutrients. Moreover, a large amount of iodine was lost due to the leaching. It is concluded that the biofortification of iodine increases its concentration in Brassica species. This work provides a reference for the iodine biofortification in plant species which will be helpful to control IDD., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Elimination of poliovirus in Pakistan and Afghanistan is challenged by notions against the role of oral poliovirus vaccine (OPV) in eradicating contemporary wild poliovirus (WPV) strains., Methods: A total of 1055 WPV type 1 (WPV1) strains isolated between 2013 and 2018 were categorized into 68 antigenic groups and tested for neutralization by OPV-derived antibodies. Molecular docking was conducted to determine neutralization efficiency of antibodies against WPV. The clinical significance of WPV1 variants was assessed to ascertain their role in patient outcomes., Results: We found that 88% of WPV1 strains isolated from paralytic children belonged to a single antigenic lineage identical to the WPV1 strain detected in 1993. WPV1 antigenic variants were effectively neutralized by OPV-derived antibodies, with geometric mean titers comparable to the neutralization titers found for 3 strains in OPV (OPV1-3, 7.96-9.149 [95% confidence interval, 6.864-10.171]; WPV1 strains, 7.542-8.786 [6.493-9.869]). Docking examination underscored a strong antigen-antibody interaction despite variations within the viral protein 1 epitopes. There was no significant association (P = .78) with clinical prognosis among patients infected with antigenically diverse WPV1 strains and patient outcomes, including death., Conclusions: Our findings substantiate the robustness of OPV for neutralizing the contemporary WPV1 strains endemic in Pakistan and Afghanistan. Vaccination coverage must be augmented to achieve early eradication., Competing Interests: Potential conflicts of interest. All authors: No reported conflicts. All authors have submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Conflicts that the editors consider relevant to the content of the manuscript have been disclosed., (© The Author(s) 2021. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com.)

Lower respiratory illness is one of the leading causes of death among children in low- and high-income countries. Human metapneumovirus (hMPV) is a key contributor to respiratory illnesses commonly reported among children and causes serious clinical complications ranging from mild respiratory infections to severe lower respiratory tract anomalies mainly in the form of bronchiolitis and pneumonia. However, due to the lack of a national surveillance system, the clinical significance of hMPV remains obscure in the Pakistani population. This study was conducted to screen throat swabs samples collected from 127 children reported with respiratory symptoms at a tertiary care hospital in Islamabad. Out of 127, 21 (16.5%) samples were positive for hMPV with its genotype distribution as A2a (10%), A2b (20%), B1 (10%), and B2 (60%). Phylogenetic analysis showed that the hMPV viruses were closely related to those reported from neighboring countries including India and China. This work will contribute to a better understanding of this virus, its diagnosis, and the handling of patients in clinical setups. Further studies at a large-scale are warranted for a better understanding of the disease burden and epidemiology of hMPV in Pakistan., (© 2022. The Author(s).)

This paper investigates the impact of CO 2 emissions, air pollution (PM2.5) exposure, foreign remittances, energy consumption, renewable energy consumption, trade openness, and gross domestic product per capita on health expenditure in a panel of the 27 highest emitting countries from 2000 to 2019. Focusing on objectives, panel ARDL, and dynamic simulated ARDL models are used to examine the short-run and long-run impact of the variables on health expenditure. An asymmetric or nonlinear ARDL model is used to test the asymmetric effect of CO 2 emissions, air pollution exposure, and foreign remittance inflows on health expenditure. The results show that environment-degrading factors, remittances, and GDP per capita significantly impact health expenditure. There is an asymmetric effect of remittances, CO 2 emissions, and air pollution (PM2.5) exposure on health expenditure. Based on the results, the study suggests policymakers should make policies regarding environment-degrading elements as these factors cause huge increases in health spending in a country. Consumption of renewable energy helps reduce health expenditure as it does not cause environmental degradation, irrespective of other forms of energy, and it is suggested that policies relating to foreign remittance inflows should be encouraged and made efficient., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Text detection in natural scene images for content analysis is an interesting task. The research community has seen some great developments for English/Mandarin text detection. However, Urdu text extraction in natural scene images is a task not well addressed. In this work, firstly, a new dataset is introduced for Urdu text in natural scene images. The dataset comprises of 500 standalone images acquired from real scenes. Secondly, the channel enhanced Maximally Stable Extremal Region (MSER) method is applied to extract Urdu text regions as candidates in an image. Two-stage filtering mechanism is applied to eliminate non-candidate regions. In the first stage, text and noise are classified based on their geometric properties. In the second stage, a support vector machine classifier is trained to discard non-text candidate regions. After this, text candidate regions are linked using centroid-based vertical and horizontal distances. Text lines are further analyzed by a different classifier based on HOG features to remove non-text regions. Extensive experimentation is performed on the locally developed dataset to evaluate the performance. The experimental results show good performance on test set images. The dataset will be made available for research use. To the best of our knowledge, the work is the first of its kind for the Urdu language and would provide a good dataset for free research use and serve as a baseline performance on the task of Urdu text extraction., Competing Interests: Hazrat Ali is an Academic Editor for PeerJ Computer Science., (© 2021 Ali et al.)

The ongoing COVID-19 pandemic is caused by SARs-CoV-2. The virus is transmitted from person to person through droplet infections i.e. when infected person is in close contact with another person. In January 2020, first report of detection of SARS-CoV-2 in faeces, has made it clear that human wastewater might contain this virus. This may illustrate the probability of environmentally facilitated transmission, mainly the sewage, however, environmental conditions that could facilitate faecal oral transmission is not yet clear. We used existing Pakistan polio environment surveillance network to investigate presence of SARs-CoV-2 using three commercially available kits and E-Gene detection published assay for surety and confirmatory of positivity. A Two-phase separation method is used for sample clarification and concentration. An additional high-speed centrifugation (14000Xg for 30 min) step was introduced, prior RNA extraction, to increase viral RNA yield resulting a decrease in Cq value. A total of 78 wastewater samples collected from 38 districts across Pakistan, 74 wastewater samples from existing polio environment surveillance sites, 3 from drains of COVID-19 infected areas and 1 from COVID 19 quarantine center drainage, were tested for presence of SARs-CoV-2. 21 wastewater samples (27%) from 13 districts turned to be positive on RT-qPCR. SARs-COV-2 RNA positive samples from areas with COVID 19 patients and quarantine center strengthen the findings and use of wastewater surveillance in future. Furthermore, sequence data of partial ORF 1a generated from COVID 19 patient quarantine center drainage sample also reinforce our findings that SARs-CoV-2 can be detected in wastewater. This study finding indicates that SARs-CoV-2 detection through wastewater surveillance has an epidemiologic potential that can be used as supplementary system to monitor viral tracking and circulation in cities with lower COVID-19 testing capacity or heavily populated areas where door-to-door tracing may not be possible. However, attention is needed on virus concentration and detection assay to increase the sensitivity. Development of highly sensitive assay will be an indicator for virus monitoring and to provide early warning signs., Competing Interests: The authors have declared that no competing interests exist.

Introduction: Dyspepsia is a common presenting complaint of various upper gastrointestinal disorders. Duodenal ulcer is one of the rare endoscopic findings in patients with dyspepsia, but it can present with upper gastrointestinal bleed. The aim of this study was to determine the frequency of duodenal ulcers among dyspeptic patients undergoing esophagogastroduodenoscopy (EGD)., Subject and Methods: All patients who fulfilled the inclusion criteria were recruited during the period of six months, i.e., from July to December 2020 in the Department of Gastroenterology, Liaquat National Hospital and Medical College, Karachi. After obtaining informed and written consent, history, and clinical examination, the EGD was performed to assess the outcome, i.e., frequency of duodenal ulcers., Results: A total of 156 patients with dyspepsia were included. Eighty-seven (55.8%) were male and 69 (44.2%) were female with the mean age of 36.96+11.71 years. The most common symptom at presentation was epigastric burning seen in 76 patients (48.7%) followed by postprandial fullness in 59 patients (37%). Duodenal ulcers were noted in 18 patients (11.5%) and were significantly associated with alcohol intake, smoking, epigastric pain, postprandial fullness with p-values of 0.001, 0.001, 0.001, and 0.013, respectively., Conclusion: Duodenal ulcer is an uncommon endoscopic finding in patients with dyspepsia; it is seen in younger age, smokers, alcohol use, and patients presenting with epigastric pain and postprandial fullness., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2021, Latif et al.)

The rapid economic growth over recent years and the resulting environmental pollution in OECD countries are a serious concern for the health of the general public. A comprehensive analysis of environmental pollutants, economic growth, and public health is done using data from 28 OECD economies from 2002 to 2018. Panel fully modified least squares and the panel vector error correction model are used. The results show that there is long-run causality from renewable energy and carbon dioxide (CO 2 ) emissions to healthcare spending. Renewable energy and healthcare spending are positively and significantly related. It is concluded that investment in renewable energy leads to a reduction in air pollution, improvements in healthcare, and the promotion of economic growth.

Background: Pakistan is among 3 countries endemic for wild poliovirus type 1 (WPV1) circulation that are still struggling for eradication of poliomyelitis. Active clinical and environmental surveillance with meticulous laboratory investigations provide insights into poliovirus transmission patterns and genomic diversity to inform decisions for strategic operations required to achieve eradication., Methods: We analyzed epidemiological and virological data to comprehend the current epidemiological status of WPV1 in Pakistan during 2015-2017. Stool specimens of patients with acute flaccid paralysis (AFP) and sewage samples collected from 60 environmental sites were tested. Viral culturing, intratypic differentiation by real-time polymerase chain reaction, and nucleic acid sequencing of the VP1 region of the poliovirus genome to determine genetic relatedness among WPV1 strains were applied., Results: Poliovirus isolates were grouped into 11 distinct clusters, which had ≥95% nucleotide homology in the VP1 coding region. Most of the poliovirus burden was shared by 3 major reservoirs: Karachi, Peshawar, and Quetta block (64.2% in 2015, 75.4% in 2016, and 76.7% in 2017)., Conclusions: Environmental surveillance reveals importations and pockets of unimmunized children that dictate intensive target mop-up campaigns to contain poliovirus transmission. A decrease in the number of orphan isolates reflects effective combination of AFP and environmental surveillance in Pakistan. The genetic data reflect sustained transmission within reservoir areas, further expanded by periodic importations to areas of high immunity reflected by immediate termination of imported viruses. Improved immunization coverage with high-quality surveillance is vital for global certification of polio eradication., (© The Author(s) 2019. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com.)

Global poliovirus surveillance involves virus isolation from stool and environmental samples, intratypic differential (ITD) by PCR, and sequencing of the VP1 region to distinguish vaccine (Sabin), vaccine-derived, and wild-type polioviruses and to ensure an appropriate response. This cell culture algorithm takes 2 to 3 weeks on average between sample receipt and sequencing. Direct detection of viral RNA using PCR allows faster detection but has traditionally faced challenges related to poor sensitivity and difficulties in sequencing common samples containing poliovirus and enterovirus mixtures. We present a nested PCR and nanopore sequencing protocol that allows rapid (<3 days) and sensitive direct detection and sequencing of polioviruses in stool and environmental samples. We developed barcoded primers and a real-time analysis platform that generate accurate VP1 consensus sequences from multiplexed samples. The sensitivity and specificity of our protocol compared with those of cell culture were 90.9% (95% confidence interval, 75.7% to 98.1%) and 99.2% (95.5% to 100.0%) for wild-type 1 poliovirus, 92.5% (79.6% to 98.4%) and 98.7% (95.4% to 99.8%) for vaccine and vaccine-derived serotype 2 poliovirus, and 88.3% (81.2% to 93.5%) and 93.2% (88.6% to 96.3%) for Sabin 1 and 3 poliovirus alone or in mixtures when tested on 155 stool samples in Pakistan. Variant analysis of sequencing reads also allowed the identification of polioviruses and enteroviruses in artificial mixtures and was able to distinguish complex mixtures of polioviruses in environmental samples. The median identity of consensus nanopore sequences with Sanger or Illumina sequences from the same samples was >99.9%. This novel method shows promise as a faster and safer alternative to cell culture for the detection and real-time sequencing of polioviruses in stool and environmental samples., (Copyright © 2020 Shaw et al.)

Hearing loss affects 380 million people worldwide due to environmental or genetic causes. Determining the cause of deafness in individuals without previous family history of hearing loss is challenging and has been relatively unexplored in Pakistan. We investigated the spectrum of genetic variants in hearing loss in a cohort of singleton affected individuals born to consanguineous parents. Twenty-one individuals with moderate to severe hearing loss were recruited. We performed whole-exome sequencing on DNA samples from the participants, which identified seventeen variants in ten known deafness genes and one novel candidate gene. All identified variants were homozygous except for two. Eleven of the variants were novel, including one multi-exonic homozygous deletion in OTOA. A missense variant in ESRRB was implicated for recessively inherited moderate to severe hearing loss. Two individuals were heterozygous for variants in MYO7A and CHD7, respectively, consistent with de novo variants or dominant inheritance with incomplete penetrance as the reason for their hearing loss. Our results indicate that similar to familial cases of deafness, variants in a large number of genes are responsible for moderate to severe hearing loss in sporadic individuals born to consanguineous couples.

Background: Pneumonia-associated septic shock (PASS) in patients with cancer inflicts healthcare burden attributed to high morbidity and mortality. Current study was aimed to evaluate the clinical outcomes, microbiological characteristics, risk factors and impact of life-support interventions on 28-day mortality among cancer patients with PASS., Methods: A prospective observational study was conducted among cancer patients with PASS admitted to intensive care unit (ICU) of 'Shaukat Khanum Memorial Cancer Hospital'. Data were analysed using appropriate statistical methods., Results: Out of 100 patients who sought medical care during the study period, 59 (59%) were male and majority had solid tumour than haematological malignancies (68% vs 32%). Nosocomial pneumonia was most frequent (90%) followed by healthcare-associated pneumonia (HCAP) (9%) and community-acquired pneumonia (CAP) (1%). The most common causative pathogen was Pseudomonas aeruginosa , 21 (32%). Overall mortality rate was 76% including 15% hospital and 61% ICU mortality. Sequential Organ Failure Assessment (SOFA) score at first day (HR 3.8; 95% CI 1.7 to 8.9; p=0.002), SOFA score at seventh day (HR 8.9; 95% CI 3.6 to 22.7; p=<0.001), invasive mechanical ventilation (HR 8.0; 95% CI 3.2 to 20; p<0.001) and performance status (HR 5.4; 95% CI 2.5 to 11.3; p<0.001) were found to be independently associated with 28-day mortality. Receiver operating characteristic curve analysis accentuates the excellent predictive accuracy of Cox regression model for mortality indicated by area under the curve of 0.892 (95% CI 0.801 to 0.983, p<0.001)., Conclusion: Our analysis demonstrates substantial mortality associated with PASS among patients with cancer. Timely recognition of patients with high predilection of increased mortality could be of value in improving the disease burden., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Variants of KCNQ4 are one of the most common causes of dominantly inherited nonsyndromic hearing loss. We investigated a consanguineous family in which two individuals had prelignual hearing loss, apparently inherited in a recessive mode. Whole-exome sequencing analyses demonstrated genetic heterogeneity as variants in two different genes segregated with the phenotype in two branches of the family. Members in one branch were homozygous for a pathogenic variant of TMC1. The other two affected individuals were homozygous for a missense pathogenic variant in KCNQ4 c.872C>T; p.(Pro291Leu). These two individuals had prelingual, progressive moderate to severe hearing loss, while a heterozygous carrier had late onset mild hearing loss. Our work demonstrates that p.Pro291L variant is semi-dominantly inherited. This is the first report of semi-dominance of a KCNQ4 variant., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Hypomagnesemia with secondary hypocalcemia is a rare autosomal-recessive disorder characterized by intense hypomagnesemia associated with hypocalcemia (HSH). Mutations in the TRPM6 gene, encoding the epithelial Mg 2+ channel TRPM6, have been proven to be the molecular cause of this disease. This study identified causal mutations in a 2-month-old male patient of hypomagnesemia from a consanguineous marriage. Biochemical analyses indicated the diagnosis of HSH due to primary gastrointestinal loss of magnesium. Whole exome sequencing of the trio (i.e. proband and both parents) was carried out with mean coverage of > 150×. ANNOVAR was used to annotate functional consequences of genetic variation from exome sequencing data. After variant filtering and annotation, a number of single nucleotide variants (SNVs) and 2 bp deletion at exon26:c.4402&#95;4403delCT in TRPM6 gene were identified. This deletion which resulted in a novel frameshift mutation in exon 26 of this gene was confirmed by Sanger sequencing. With these investigations in hand, the patient was managed with magnesium sulphate. The patient remained asymptomatic and was developmentally and neurologically normal till his last follow up.