Exploring the potential of telemedicine for improved primary healthcare in India: a comprehensive review.

Telemedicine is a promising solution to the challenges of delivering equitable and quality primary healthcare, especially in LMICs. This review evaluated peer-reviewed literature on telehealth interventions in Indian primary care published from Jan 1, 2011 to Dec 31, 2021, from PubMed, Scopus, TRIP, Google Scholar, Indian Kanoon, and Cochrane database The majority of Indian studies focus on key health issues like maternal and child health, mental health, diabetes, infectious diseases, and hypertension, mainly through patient education, monitoring, and diagnostics. Yet, there's a lack of research on telemedicine's cost-effectiveness, communication among providers, and the role of leadership in its quality and accessibility. The current research has gaps, including small sample sizes and inconsistent methodologies, which hamper the evaluation of telemedicine's effectiveness. India's varied healthcare landscape, technological limitations, and social factors further challenge telemedicine's adoption. Despite regulatory efforts, issues like the digital divide and data privacy persist. Addressing these challenges with a context-aware, technologically driven approach is crucial for enhancing healthcare through telemedicine in India.

Factors affecting asthma control in pregnancy: A cross-sectional study.

Background and Objective: Asthma control in pregnant women remains of utmost importance; suboptimal control can have adverse repercussions on both fetal and maternal health. The objective was to identify the factors that affect asthma control in pregnant Pakistani women presenting to a tertiary care hospital. Methods: This descriptive, cross-sectional research was conducted at KRL General Hospital between 1st November 2022 to 30th April 2023. Non-probability technique was used to sample one hundred and forty-five pregnant women with confirmed bronchial asthma irrespective of their trimester presented. Data regarding demographics and factors affecting asthma control was collected. Results: The mean age was 30.39 ± 4.33 years, with two-thirds (65%) being multiparous. Approximately 48% of participants were non-compliant with treatment, and less than 40% achieved adequate asthma control. A chi-squared test applied showed that multiparity (p = 0.003), treatment compliance (p < 0.001), BMI (p < 0.001), and proper inhaler technique (p < 0.001) were statistically significant factors affecting asthma control in pregnant women while, the level of education and household income did not exhibit a significant association. Multiple regression analysis qualified higher BMI, multiparity, treatment compliance, and inhaler technique as significant predictors of asthma control amongst pregnant women. Conclusion: Ensuring asthma control during pregnancy is important. This study identified BMI, multiparity, inhaler technique, and treatment compliance as factors that affect asthma control in pregnant women. Addressing these factors through regular antenatal check-ups can significantly mitigate risks and promote the optimal health of both maternal and fetal lives.

Unveiling Silent Consequences: Impact of Pulmonary Tuberculosis on Lung Health and Functional Wellbeing after Treatment.

Background: Pulmonary tuberculosis (TB) remains a major public health issue in India, with high incidence and mortality. The current literature on post-TB sequelae functional defects focuses heavily on spirometry, with conflicting obstruction vs. restriction data, lacks advanced statistical analysis, and has insufficient data on diffusion limitation and functional impairment. Objective: This study aimed to thoroughly evaluate post-tubercular sequelae after treatment, assessing chest radiology, spirometry, diffusing capacity, and exercise capacity. Methods: A total of 85 patients were studied at a university teaching hospital in Mysuru. The data collected included characteristics, comorbidities, smoking history, and respiratory symptoms. The investigations included spirometry, DLCO, chest X-rays with scoring, and 6MWT. Results: Of the patients, 70% had abnormal X-rays post-treatment, correlating with reduced lung function. Additionally, 70% had impaired spirometry with obstructive/restrictive patterns, and 62.2% had reduced DLCO, with females at higher risk. Smoking increased the risk of sequelae. Conclusions: Most patients had residual radiological/lung function abnormalities post-treatment. Advanced analyses provide insights into obstructive vs. restrictive defects. Ongoing research should explore pathogenetic mechanisms and therapeutic modalities to minimize long-term post-TB disability.

Social media as a clinical, educational and networking tool for neurosurgeons: A systematic review of literature.

BACKGROUND: The use of social media has been drastic in the field of neurosurgery over the last two decades. Almost 70 % of neurosurgeons use social media platforms such as Facebook, X (formerly Twitter), YouTube, and Instagram for purposes of professional growth. This literature review aims to quantify the use of social media in the field of neurosurgery, its benefits, and implications. METHODS: A systematic review was conducted by searching PubMed, Science Direct, and Google Scholar for articles pertaining tosocial media and neurosurgery.Mesh terms employed in the search strategy encompassed "Social Media", "neurosurgery", "education""benefits", "consequences"and related variations.Inclusion criteria involved studiesvaryingin methodology, includingobservational studies, case reports and comprehensive reviewsand investigatingvarious aspects of benefits and limitations of social media for neurosurgeons, encompassing its importance in community building, professional development, contribution to research and publications, mentorship, cultural diversity and other pertinent benefits. RESULTS: The search yielded635articles, with437unique articles screened based on relevance. Following a meticulous screening process,86articles underwent full-text assessment, resulting in the inclusion of22articles meeting the eligibility criteria.Insights were derived onthebenefits of social media,its current limitationsas well astrends and demographics surrounding social media use in neurosurgery. CONCLUSION: In todays modernized world, social media acts as a double-edged sword when it comes to neurosurgery; it offers unparalleled opportunities for collaboration, education, patient engagement, and support while demanding careful use and navigation to mitigate the risks associated with it.

Liliequist membrane: A systematic review of history, anatomy, clinical importance, and surgical challenges.

BACKGROUND: The Liliequist membrane (LM) represents a crucial yet challenging anatomical structure in neuroanatomy. First observed in 1875 and later elucidated by Bengt Liliequist in 1956, the LM's precise anatomical description and boundaries remain complex. Its significance extends to neurosurgery, impacting various procedures like endoscopic third ventriculocisternostomies, aneurysm and tumor surgeries, treatment of suprasellar arachnoid cysts, and managing perimesencephalic hemorrhages. However, a comprehensive understanding of the LM is hindered by inconsistent anatomical descriptions and limitations in available literature, warranting a systematic review. METHODS: A systematic review was conducted by searching PubMed, Science Direct, and Google Scholar for articles pertaining to Liliequist's membrane. The search employed Mesh terms like "Liliequist membrane," "Liliequist's diaphragm," and related variations. Inclusion criteria encompassed studies exploring the historical evolution, anatomical structure, radiological characteristics, and clinical implications of the LM in neurosurgery. RESULTS: The search yielded 358 articles, with 276 unique articles screened based on relevance. Following a meticulous screening process, 72 articles underwent full-text assessment, resulting in the inclusion of 5 articles meeting the eligibility criteria. The selected studies varied in methodology, including anatomical dissections, radiological evaluations, and clinical significance in neurosurgical procedures. Insights were derived on LM's anatomical variations, radiological visualization, and its critical role in guiding neurosurgical interventions. CONCLUSIONS: Despite advancements in understanding its clinical significance and radiological visualization, challenges persist in precisely delineating its boundaries. Further research, especially on embryological development and histological characterization, is essential. Enhancing comprehension of LM-related pathologies is crucial for accurate preoperative planning and optimizing patient outcomes in neurosurgery.

Neurosurgery and Social Media: A Bibliometric Analysis of Scientific Production from 2004 to 2023.

BACKGROUND: Neurosurgery is a rapidly advancing surgical specialty. Social media has significantly impacted the landscape of advancements in the field of neurosurgery. Research on the subject of neurosurgery and social media plays a vital role in combating disability and mortality due to neurological diseases, especially in trauma-affected individuals by increasing cooperation and sharing of clinical experiences between neurosurgeons via social media. This study aimed to evaluate the global neurosurgery and social media research performance from 2004 to 2023. METHODS: All the data for neurosurgery and social media-related research publications from 2004 to 2023 were extracted from the Web of Science database and a comprehensive analysis was performed on the R-bibliometrix package. RESULTS: An increasing number of publications with an annual growth rate of 22.04% was observed, with >91% of total articles published in the last decade. The United States, the United Kingdom, Italy, France, Canada, and India made up of more than 67% of the global contribution. Out of 1449 authors, Chaurasia B was the most productive with 14 publications and the most globally cited document was JEAN WC, 2020 with 117 citations. The University of Cambridge was the leading institutional affiliation. World Neurosurgery was the most productive with >60 articles. CONCLUSIONS: Exploring neurosurgery on social media enhances global collaboration, utilizing dynamic platforms for real-time knowledge exchange and holds immense potential for the field's global advancement.

Clinical severity and high-resolution CT severity score in COVID-19: Is there an association.

Objectives: To identify a correlation between the clinical parameters and CT chest severity score in COVID-19. Methods: A total of 205 RT-PCR positive patients were included in this descriptive cross-sectional study with convenience sampling from November 2020 to June 2021 in KRL Hospital. The study population was stratified in disease severity as per the WHO's guidelines. Clinical and radiological characteristics were compared in survivors and non survivors to draw conclusion. Results: The mean age was 57 years and the majority of the patients 57% were male. Overall mortality was 22% and the mean CT severity score was 18. Non survivors were more tachypneic, hypoxic, had a higher CT chest severity score, higher clinical severity, more comorbid condition and higher TLC, D-Dimers, LDH, CRP, NLR. Raised CT severity score showed a conclusive correlation with greater disease severity. One way ANOVA showed a significant difference between mean CT severity score amongst different disease categories. Conclusion: Higher CT severity score corresponds to a higher clinical severity and higher chances of mortality.

Regulation of carotenoid metabolism and ABA biosynthesis during blueberry fruit ripening.

Carotenoids and their derivates play critical physiologic roles in plants. However, these substrates and their metabolism have not been elucidated in fruit of blueberry (Vaccinium corymbosum). In this study, carotenoids and ABA were investigated by LC-MS and their biosynthesis were subject to proteomic analysis during fruit ripening. Activity of CCD1 and NCED1/3 were studied in vivo or in vitro. Also, effects of ethephon and 1-MCP on biosynthesis of carotenoid and ABA were investigated through the expression of corresponding genes using qPCR. As a result, carotenoid biosynthesis was prominently mitigated whereas its metabolism was enhanced during fruit ripening, which resulted in a decrease in the carotenoids. VcCCD1 could both cleave ß-carotene, zeaxanthin and lutein at positions of 9, 10 (9', 10'), which was mainly responsible for the degradation of these carotenoids. Interestingly, in the situation of mitigation of carotenoid biosynthesis, ABA still rapidly accumulated, which was mainly attributed to the upregulated expression of VcNCED1/3. Notably, VcNCED1/3 also showed a cleavage activity of all-trans-zeaxanthin and a stereospecific cleavage activity of 9-cis-carotene to generate C15-carotenal. The C15-carotenal could be potentially converted to ABA through ZEP-independent ABA biosynthetic pathway during blueberry fruit ripening. Similar to a nature natural maturation, ethylene accelerated the carotenoid degradation and ABA biosynthesis trough downregulating the expression of genes in carotenoid biosynthesis and upregulating the expression of genes in ABA biosynthesis. These information help understand the regulation of carotenoids and ABA, and effects of ethylene on the regulation during blueberry fruit ripening.

Unmasking the Silent Threat: Periodontal Health's Impact on COPD Severity and Hospitalization.

OBJECTIVE: This study investigated the relationship between chronic obstructive pulmonary disease (COPD) and periodontitis, focusing on how periodontal health impacts COPD airflow limitation, exacerbations, and hospitalization. BACKGROUND: Periodontitis, a multifactorial inflammatory disease, is characterized by destruction of tooth-supporting structures, while COPD is a global pulmonary disorder with high mortality. METHODS: A total of 199 COPD patients aged over 40 years underwent lung function tests (spirometry), 6 min walk test, and St George's Respiratory Questionnaire-COPD (SGRQ-C) to assess lung health. Periodontal indices such as probing depth (PD), clinical attachment loss (CAL), and plaque index (PI) were assessed. RESULTS: We found a significant negative correlation between periodontal disease severity and lung function (lower FEV1, FVC, and FEV1/FVC ratio) after adjusting for smoking. Likewise, periodontal parameters (PPD, PI, and CAL) exhibited negative correlations with lung function. These periodontal indices were independently associated with airflow limitation severity, exacerbations frequency, and prior-year hospitalization. Linear regression indicated that each unit increase in PPD, PI, and CAL corresponded to estimated increases in GOLD airflow limitation grading (0.288, 0.718, and 0.193, respectively) and number of exacerbations (0.115, 0.041, and 0.109, respectively). In logistic regression, PPD, PI, and CAL adjusted odds ratios (ORs) were estimated to increase by 1.29 (95%CI: 1.03-1.62), 3.04 (95%CI: 1.28-7.2), and 1.26 (95%CI: 1.06-1.49), respectively, for hospitalization in previous year. CONCLUSION: Periodontitis is associated with COPD airflow limitation, exacerbation, and hospitalization, with PI being the most clinically relevant periodontal factor. Dentists and physicians should monitor and increase awareness among COPD patients to maintain oral hygiene for prevention of periodontal diseases and mitigate its effect on COPD progression.

Uncovering the Chemosensory System of a Subterranean Termite, Odontotermes formosanus (Shiraki) (Isoptera: Termitidae): Revealing the Chemosensory Genes and Gene Expression Patterns.

Termites are eusocial insects. Chemical signals between colony members are crucial to the smooth running of colony operations, but little is known about their olfactory system and the roles played by various chemosensory genes in this process. Chemosensory genes are involved in basic olfactory perception in insects. Odontotermes formosanus (Shiraki) is one of the most damaging pests to agricultural crops, forests, and human-made structures. To better understand the olfactory system and the genes involved in olfactory processing in O. formosanus, we produced a transcriptome of worker termites. In this study, we identified 13 OforOBPs, 1 OforCSP, 15 OforORs, 9 OforGRs, and 4 OforSNMPs. Multiple sequence alignments were used in the phylogenetic study, which included data from other termite species and a wide variety of insect species. Moreover, we also investigated the mRNA expression levels using qRT-PCR. The significantly high expression levels of OforCSP1, OforOBP2, OforOR1, and OforSNMP1 suggest that these genes may play important roles in olfactory processing in termite social behavior, including caste differentiation, nestmate and non-nestmate discrimination, and the performance of colony operations among members. Our research establishes a foundation for future molecular-level functional studies of chemosensory genes in O. formosanus, which might lead to the identification of novel targets for termite integrated pest management.

The Validity of the ROX Index and APACHE II in Predicting Early, Late, and Non-Responses to Non-Invasive Ventilation in Patients with COVID-19 in a Low-Resource Setting.

The use of the Ratio of Oxygen Saturation (ROX) index to predict the success of high-flow nasal oxygenation (HFNO) is well established. The ROX can also predict the need for intubation, mortality, and is easier to calculate compared with APACHE II. In this prospective study, the primary aim is to compare the ROX (easily administered in resource limited setting) to APACHE II for clinically relevant outcomes such as mortality and the need for intubation. Our secondary aim was to identify thresholds for the ROX index in predicting outcomes such as the length of ICU stay and failure of non-invasive respiratory support therapies and to assess the effectiveness of using the ROX (day 1 at admission, day 2, and day 3) versus Acute physiology and chronic health evaluation (APACHE) II scores (at admission) in patients with Coronavirus Disease 2019 (COVID-19) pneumonia and Acute Respiratory Distress Syndrome (ARDS) to predict early, late, and non-responders. After screening 208 intensive care unit patients, a total of 118 COVID-19 patients were enrolled, who were categorized into early (n = 38), late (n = 34), and non-responders (n = 46). Multinomial logistic regression, receiver operating characteristic (ROC), Multivariate Cox regression, and Kaplan-Meier analysis were conducted. Multinomial logistic regressions between late and early responders and between non- and early responders were associated with reduced risk of treatment failures. ROC analysis for early vs. late responders showed that APACHE II on admission had the largest area under the curve (0.847), followed by the ROX index on admission (0.843). For responders vs. non-responders, we found that the ROX index on admission had a slightly better AUC than APACHE II on admission (0.759 vs. 0.751). A higher ROX index on admission [HR (95% CI): 0.29 (0.13-0.52)] and on day 2 [HR (95% CI): 0.55 (0.34-0.89)] were associated with a reduced risk of treatment failure. The ROX index can be used as an independent predictor of early response and mortality outcomes to HFNO and NIV in COVID-19 pneumonia, especially in low-resource settings, and is non-inferior to APACHE II.

Complete genome sequence of a novel double-stranded RNA virus infecting the phytopathogenic fungus Rhizopus stolonifer.

In this study, we report the complete genome sequence of a novel toti-like virus, tentatively named "Rhizopus stolonifer double-stranded RNA virus 1" (RsDSV1), identified from a phytopathogenic fungal agent of apple fruit rot disease, Rhizopus stolonifer strain A2-1. RsDSV1 has a double-stranded RNA genome. The complete RsDSV1 genome is 5178 nucleotides (nt) in length and contains two open reading frames (ORFs) encoding a putative coat protein (CP) and an RNA-dependent RNA polymerase (RdRp). Phylogenetic analysis based on RdRp and CP amino acid sequences revealed that RsDSV1 is closely related to unclassified members of the family Totiviridae. In stress-inducing Vogel's minimal and sodium dodecyl sulfate-containing media, hyphal growth of A2-1 was suppressed, but the accumulation of RsDSV1 RNA increased, indicating that stresses promote RsDSV1 replication. To our knowledge, this is the first report of a mycovirus found in R. stolonifer.

Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review.

BACKGROUND: Carbamoyl phosphate synthetase I defect (CPS1D) is a rare disease with clinical case reports mainly in early neonates or adults, with few reports of first onset in late neonatal to childhood. We studied the clinical and genotypic characteristics of children with childhood onset CPS1D caused by two loci mutations (one of these is a rarely reported non-frame shift mutation) in the CPS1. CASE PRESENTATION: We present a rare case of adolescent-onset CPS1D that had been misdiagnosed due to atypical clinical features, and further investigations revealed severe hyperammonemia (287µmol/L; reference range 11.2 ~ 48.2umol/L). MRI of the brain showed diffuse white matter lesions. Blood genetic metabolic screening showed elevated blood alanine (757.06umol/L; reference range 148.8 ~ 739.74umol/L) and decreased blood citrulline (4.26umol/L; reference range 5.45 ~ 36.77umol/L). Urine metabolic screening showed normal whey acids and uracil. Whole-exome sequencing revealed compound heterozygous mutations in the CPS1, a missense mutation (c.1145 C > T) and an unreported de novo non-frame shift mutation (c.4080_c.4091delAGGCATCCTGAT), respectively, which provided a clinical diagnosis. CONCLUSION: A comprehensive description of the clinical and genetic features of this patient, who has a rare age of onset and a relatively atypical clinical presentation, will facilitate the early diagnosis and management of this type of late onset CPS1D and reduce misdiagnosis, thus helping to reduce mortality and improve prognosis. It also provides a preliminary understanding of the relationship between genotype and phenotype, based on a summary of previous studies, which reminds us that it may help to explore the pathogenesis of the disease and contribute to genetic counselling and prenatal diagnosis.

Circulatory Serum Krebs von Den Lungen-6 and Surfactant Protein-D Concentrations Predict Interstitial Lung Disease Progression and Mortality.

There is a need for biomarkers to predict outcomes, including mortality, in interstitial lung disease (ILD). Krebs von den Lungen-6 (KL-6) and surfactant protein D (SP-D) are associated with lung damage and fibrosis in all ILDs and are related to important clinical outcomes. Though these two biomarkers have been associated with ILD outcomes, there are no studies that have evaluated their predictive potential in combination. This study aims to determine whether KL-6 and SP-D are linked to poor disease outcomes and mortality. Additionally, we plan to examine whether changes in KL-6 and SP-D concentrations correspond with changes in lung function and whether serial measurements improve their predictive potential to identify disease progression and mortality. Forty-four patients with ILD participated in a prospective 6-month longitudinal observational study. ILD patients who succumbed had the highest KL-6 levels (3990.4 U/mL (3490.0-4467.6)) and highest SP-D levels (256.1 ng/mL (217.9-260.0)), followed by those who deteriorated: KL-6 levels 1357.0 U/mL (822.6-1543.4) and SP-D levels 191.2 ng/mL (152.8-210.5). The generalized linear model (GLM) analysis demonstrated that changes in forced vital capacity (FVC), diffusing capacity of lungs for carbon monoxide (DLCO), forced expiratory volume in 1 s (FEV1), and partial pressure of arterial oxygen (PaO2) were correlated to changes in KL6 (p = 0.016, 0.014, 0.027, 0.047) and SP-D (p = 0.008, 0.012, 0.046, 0.020), respectively. KL-6 (odds ratio (OR): 2.87 (1.06-7.79)) and SPD (OR: 1.76 (1.05-2.97)) were independent predictors of disease progression, and KL-6 (hazard ratio (HR): 3.70 (1.46-9.41)) and SPD (HR: 2.58 (1.01-6.59)) were independent predictors of death by Cox regression analysis. Combined biomarkers (KL6 + SPD + CT + FVC) had the strongest ability to predict disease progression (AUC: 0.797) and death (AUC: 0.961), on ROC analysis. Elevated KL-6 and SPD levels are vital biomarkers for predicting the severity, progression, and outcomes of ILD. High baseline levels or an increase in levels over a six-month follow-up despite treatment indicate a poor prognosis. Combining KL6 and SPD with conventional measures yields a more potent prognostic indicator. Clinical studies are needed to test additional interventions, and future research will determine if this combined biomarker benefits different ethnicities globally.

Insights into the Effects of Insecticides on Aphids (Hemiptera: Aphididae): Resistance Mechanisms and Molecular Basis.

With the passage of time and indiscreet usage of insecticides on crops, aphids are becoming resistant to their effect. The different classes of insecticides, including organophosphates, carbamates, pyrethroids and neonicotinoids, have varied effects on insects. Furthermore, the molecular effects of these insecticides in aphids, including effects on the enzymatic machinery and gene mutation, are resulting in aphid resistance to the insecticides. In this review, we will discuss how aphids are affected by the overuse of pesticides, how resistance appears, and which mechanisms participate in the resistance mechanisms in various aphid species as significant crop pests. Gene expression studies were analyzed using the RNA-Seq technique. The stress-responsive genes were analyzed, and their expression in response to insecticide administration was determined. Putative insecticide resistance-related genes, cytochrome P450, glutathione S-transferase, carboxylesterase CarEs, ABC transporters, cuticle protein genes, and trypsin-related genes were studied. The review concluded that if insecticide-susceptible aphids interact with ample dosages of insecticides with sublethal effects, this will result in the upregulation of genes whose primary role is to detoxify insecticides. In the past decade, certain advancements have been observed regarding insecticide resistance on a molecular basis. Even so, not much is known about how aphids detoxify the insecticides at molecular level. Thus, to attain equilibrium, it is important to observe the manipulation of pest and insect species with the aim of restoring susceptibility to insecticides. For this purpose, this review has included critical insights into insecticide resistance in aphids.

Association between ADAM33 Single-Nucleotide Polymorphisms and Treatment Response to Inhaled Corticosteroids and a Long-Acting Beta-Agonist in Asthma.

ADAM33 has been linked to airway structural changes in patients with asthma, leading to airway hyperresponsiveness, narrowing, and ultimately poor treatment responsiveness. This study aimed to evaluate the genetic association of ADAM33 SNPs with asthma, disease severity, and treatment responsiveness to ICS+LABA in the South Indian population. In this case-control study (486 controls and 503 cases), we performed genotyping using MassArray for six SNPs of ADAM33, namely rs2280091, rs2787094, rs3918396, rs67044, rs2853209, and rs3918392. We studied the association with asthma and treatment responsiveness to ICS+LABA, using genotype, allele frequency distribution, and haplotype analysis. A significant clinical finding of the study was that certain patients in the disease severity group (moderate and mild) showed poor or no improvement after a three-month follow-up of regular ICS+LABA therapy. Of the studied ADAM33 SNPs, rs2853209 showed an association with asthma. The further analysis of asthma patients according to disease severity suggested an association between moderate disease and the minor allele "T" for rs2853209. The homozygous minor allele of SNP rs2787094 was found to be associated with poorer lung function and the least lung-function improvement after three months of ICS+LABA therapy. The haplotype analysis of six SNPs showed a significant association between the rs2853209 and rs3918396 blocks and asthma. ADAM33 gene polymorphism has clinical relevance in terms of disease association and response to treatment. SNP rs2853209 seemed most relevant to asthma, and SNP rs2787094 could be a genetic marker for predicting response to ICS+LABA therapy in the study population.

Identification of 1q21.1 microduplication in a family: A case report.

BACKGROUND: Copy number variation (CNV) has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research. 1q21.1 microduplication syndrome is a rare CNV disease that can manifest as multiple congenital developmental disorders, autism spectrum disorders, congenital malformations, and congenital heart defects with genetic heterogeneity. CASE SUMMARY: We reported a pediatric patient with 1q21.1 microduplication syndrome, and carried out a literature review to determine the correlation between 1q21.1 microduplication and its phenotypes. We summarized the patient's medical history and clinical symptoms, and extracted genomic DNA from the patient, her parents, elder brother, and sister. The patient was an 8-mo-old girl who was hospitalized for recurrent convulsions over a 2-mo period. Whole exon sequencing and whole genome low-depth sequencing (CNV-seq) were then performed. Whole exon sequencing detected a 1.58-Mb duplication in the CHR1:145883867-147465312 region, which was located in the 1q21.1 region. Family analysis showed that the pathogenetic duplication fragment, which was also detected in her elder brother's DNA originated from the mother. CONCLUSION: Whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome, which is of great significance for genetic counseling and early intervention.

Allergic sensitization to foods in India and other Low-Middle-income countries.

Food allergy is an important cause of morbidity, significantly affecting the quality of life of the sufferer. Most food allergy research has been undertaken in high-income countries. Here, we summarize literature regarding food allergy in India and other low-middle-income countries (LMIC). We provide summaries of self-reported adverse food reactions and food sensitization in these regions by reviewing published community-based studies of prevalence, burden, and risk factors. We identified 2 community-based studies of food allergy prevalence in Karnataka, India, which estimate that food allergy affects just 0.14% of children and 1.2% of adults. The overall prevalence of allergic sensitization to 'any' food was 26.5% in adults and 19.1% in children by serum-specific IgE; but only 4.48% in children by skin prick test. We identified a further 28 studies in other LMICs, mainly from China but also Turkey, South Africa, Ghana, Mexico, Brazil, Thailand, Philippines, and Korea. The overall prevalence of allergic sensitization to 'any' food ranged from 0.11% to 16.8% in children using serum-specific IgE and 0.14% to 9.6% in children by skin prick test. The questionnaires and skin prick testing materials used and number of allergens tested varied significantly between studies. Other than Karnataka, there is no information on prevalence of food sensitization and probable food allergy in the community in India. Similar lack of information is noted among the majority of the 136 LMICs. Where community-based studies have been undertaken, there is wide variation in the prevalence and patterns of food sensitization across different LMICs, at least partly due to variations in study methodology. International collaboration is required in order to formally assess food allergy prevalence and burden across representative samples from multiple LMICs.

Predictors of Mortality in COVID-19 patients: An observational study.

Objectives: To identify the factors that affect outcome in COVID-19 patients in the Pakistani population. Methods: A total of 225 patients of COVID-19 RT-PCR proven were included during November, 2020 to June, 2021 in this cross-sectional study. They were stratified into different disease severity categories as per WHO guidelines. The characteristics of survivors and non survivors were recorded and then compared to draw conclusions. Results: Mean age was 59 years. Majority of the patients were male (68%) and the overall mortality rate was 30.1%. The non survivors were more likely to be female, had a greater number of comorbidities, had a higher respiratory rate and lower oxygen saturations at presentation and had a greater frequency of invasive mechanical ventilation. Non survivors had higher values of TLC, CRP, D-dimers and lower values of Hemoglobin and Platelets. The non survivors had higher incidence of ARDS, Septic shock and Multiorgan involvement. A higher CURB-65 score was observed in non survivors as compared to those who survived. Multivariate analysis showed that female gender, presence of and higher number of comorbid conditions and a higher CURB-65 score was linked with mortality. Conclusion: Results are compatible with international studies; increasing age, number of comorbid conditions and high inflammatory markers are associated with increased mortality. Our study had an exception that female gender had higher mortality as compared to men.