Autosomal recessive ALOX12B gene and consecutive collodion baby.

Autosomal recessive congenital ichthyosis is a type of inherited ichthyosis which is a rare cluster of genetic disorders leading to defective keratinisation. The combined prevalence for lamellar ichthyosis and congenital ichthyosiform erythroderma is almost 1 per 200 000-300 000 people. Among all the mutations in this gene, missense and frameshift mutations are most common which account for 80% of the cases. Our patient had a mutation in R-type arachidonate 12-lipoxygenase gene (ALOX12B, OMIM*603741).

Knowledge and Practice of Gynecologists About Tdap and Influenza Vaccination: A Cross-Sectional Study.

BACKGROUND: Infants are vulnerable to diphtheria and pertussis in their early months. In this initial period, maternally derived antibodies provide significant protection to newborns. Similarly, influenza poses a significant risk of morbidity and mortality for pregnant mothers and infants. It has been observed that, despite the evident recommendations, the uptake of these vaccines is still not optimal. METHODOLOGY: The current study was undertaken as a cross-sectional survey among the practicing gynecologists of North India voluntarily. A structured questionnaire was made available online to 300 practicing gynecologists either on their WhatsApp or email addresses. The data were compared based on urban and rural practices. A record was also made of the participants' type of practice setup, e.g., working in a primary health setting, a district hospital, or a teaching institute.  Results: Of the 148 participants who responded to the survey, 45.3% and 64.2%, respectively, administered influenza and Tdap vaccines to their patients. The main barriers cited by the respondent doctors were the non-affordability, non-availability, and non-inclusion of vaccines in the national immunization program and a lack of awareness among the practitioners (Spearman correlation 0.4; p<0.000). CONCLUSION: The results of this survey suggest that increasing awareness among gynecologists and the public and improving the availability of vaccines and their inclusion in the national program could most likely increase the practice of the recommendation or administration of the Tdap vaccine in pregnant females.

Endometrial cancer risk factors, treatment, and survival outcomes as per the European Society for Medical Oncology (ESMO) - European Society of Gynaecological Oncology (ESGO) - European Society for Radiotherapy and Oncology (ESTRO) risk groups and International Federation of Gynecology and Obstetrics (FIGO) staging: An experience from developing world.

Introduction: There is limited data on endometrial cancer from developing countries. The risk groups as defined by the ESMO-ESGO-ESTRO and their recommendations for adjuvant treatment have redefined the management protocols. In this retrospective analysis, the outcomes are assessed in the light of the new risk groups and FIGO staging. Material Methods: One hundred and two patients of endometrial cancer reporting to the Department of Radiation Oncology from 2015 to 2019 were analysed retrospectively. Patients were stratified as per the ESMO-ESGO-ESTRO risk groups and FIGO staging. Patients were analysed for demographic profile, histopathology details, FIGO stage, treatment modalities received as per the ESMO-ESGO-ESTRO risk groups and the outcomes in terms of disease free survival and overall survival. Results: A total of 102 patients were analysed. The mean age at presentation was 57.7 years. Seventy four percent (74.41%) were stage I patients, 14.7 % were stage II, 8.8% were stage III and remaining 2% were stage IV. The mean disease free survival for the patients in FIGO stage I, II, III and IV were found to be 63.5 (59.9 - 67) months, 60.5 (54.2 - 66.9) months, 30.9 (21.5 - 40.2) months and 15.4 (7.8 - 23.0) months respectively. The 5-year overall survival of patients in Stage I was 90.3%. The 3-year mortality of Stage III patients was 58.3%. While there was no mortality observed among Stage II patients, none of the Stage IV patient survived beyond 20 months. The 5-year disease-free survival for patients in Low Risk (LR) group, Intermediate Risk (IR) group and High Risk (HR) group was found to be 91.3%, 90% and 87% respectively. None of the patient in High Intermediate Risk (HIR) group experienced progression of disease and 33.3% patients in advanced group were disease free at 2 years follow-up. The multivariate analysis showed that lymph node involvement is significantly associated with disease-free (p=0.03) and overall survival (p=0.04). Conclusion: Even in the developing world, majority of patients present in early stage with survival outcomes comparable to the West. FIGO stage and lymph node involvement continue to be the most important prognostic markers for disease outcomes.

Benefits of Manuka Honey in the Management of Infectious Diseases: Recent Advances and Prospects.

The benefits of honey have been recognized since ancient times for treating numerous diseases. However, in today's modern era, the use of traditional remedies has been rapidly diminishing due to the complexities of modern lifestyles. While antibiotics are commonly used and effective in treating pathogenic infections, their inappropriate use can lead to the development of resistance among microorganisms, resulting in their widespread prevalence. Therefore, new approaches are constantly required to combat drug-resistant microorganisms, and one practical and useful approach is the use of drug combination treatments. Manuka honey, derived from the manuka tree (Leptospermum scoparium) found exclusively in New Zealand, has garnered significant attention for its biological potential, particularly due to its antioxidant and antimicrobial properties. Moreover, when combined with antibiotics, it has demonstrated the ability to enhance their effectiveness. In this review, we delve into the chemical markers of manuka honey that are currently known, as well as detail the impact of manuka honey on the management of infectious diseases up to the present.

Resuscitation with Intact Cord Versus Clamped Cord in Late Preterm and Term Neonates: A Randomized Controlled Trial.

OBJECTIVE: To compare the effect of intact cord versus clamped cord resuscitation on the physiologic transition of neonates receiving positive-pressure ventilation (PPV) at birth. STUDY DESIGN: This open-label, parallel-group, randomized controlled superiority trial was conducted in a tertiary care hospital in India. Neonates born at ≥34 weeks of gestation after a complicated pregnancy or labor were randomized just before birth to receive resuscitation according to the Neonatal Resuscitation Program algorithm with either an intact cord (intact cord resuscitation group) or after early cord clamping (early cord clamping resuscitation group). The allocated study intervention was administered if the neonate needed PPV at birth. The primary outcome was expanded Apgar score at 5 minutes after birth. RESULTS: Birth weight, gestational age, and the incidence of pregnancy complications were similar in the 2 study groups. The proportion of neonates who received PPV was lower in the intact cord resuscitation group (28.7% vs 36.5%, P = .05; relative risk, 0.79; 95% CI, 0.61-1.01). Among neonates who received PPV, the expanded Apgar score at 5 minutes was significantly higher in the intact cord resuscitation group (median, 15 [IQR, 14-15] vs 14 [IQR, 13-15]; P < .001). The expanded Apgar score at 10 minutes, Apgar scores at 5 and 10 minutes, and oxygen saturation at 1, 5, and 10 minutes were also higher in the intact cord resuscitation group. CONCLUSION: In late preterm and term neonates, resuscitation with an intact cord results in better postnatal physiologic transition than the standard practice of resuscitation after immediate cord clamping. TRIAL REGISTRATION: Clinical Trial Registry of India (www.ctri.nic.in); trial registration no. CTRI/2020/02/023379.

Looking Beyond VIA to Improve Cervical Cancer Screening in Low Resource Settings.

Background: The two prongs for cervical cancer prevention are vaccination for primary prevention and effective screening for preinvasive and early invasive disease. Until human papilloma virus DNA testing can be provided in low resource settings, screening with VIA is the most feasible option. Various innovative methods have been used to improve the diagnostic accuracy of visual inspection with acetic acid (VIA). This study explores one such option. Method: We modified VIA (VIA-Md) by using a magnifying lens mounted with battery operated light emitting devices (LEDs) to study the acetowhite areas on the cervix. The peak wavelength of the light from the LEDs was in the bluish white range. The results of VIA and VIA-Md were compared using colposcopy directed biopsy as the reference standard. Result: The study was conducted in 273 eligible women. The sensitivity of VIA and VIA-Md for detecting CIN2 + lesions were 57.1% and 100% respectively. The specificity of VIA and VIA-Md were 99.2% and 89.5%; and p values using the colposcopy directed biopsy as the reference standard were 0.000 and 0.018 respectively. However, VIA-Md was also effective in identifying 21 out of the total 32 cases of chronic cervicitis identified by colposcopy directed biopsy. Conclusion: VIA-Md appears to be a highly sensitive test for detection of CIN2 + lesions. However, because of concerns regarding lower specificity, VIA-Md can be used simultaneously with VIA as an effective tool for triaging women who need to be kept under close surveillance or who might benefit from local ablative therapy.

Osteopontin as a Tumor Marker in Ovarian Cancer.

Introduction: Ovarian cancer is associated with high morbidity and mortality. This is due to the nonspecific symptoms and no effective screening methods. Currently, carbohydrate antigen-125 (CA125) is used as a tumor biomarker for the diagnosis of ovarian cancer, but it has its own limitations. Hence, there is a need for other tumor biomarkers for the diagnosis of ovarian cancer. Objective of the study was to evaluate the diagnostic test characteristics of plasma osteopontin (OPN) in detecting ovarian malignancy and comparing its performance with CA125. Materials and Methods: This is a prospective cross-sectional diagnostic test evaluation. Women with adnexal mass detected by clinical or radiological examination were enrolled as suspected cases. Women who presented with other gynecological conditions were enrolled as controls. OPN and CA125 levels were measured in all enrolled subjects. Results: Among 106 women enrolled, 26 were ovarian cancer, 31 had benign ovarian masses, and 49 were controls. Median plasma CA125 levels were higher in subjects with ovarian cancer (298 U/ml; interquartile range [IQR]: 84-1082 U/ml vs. 37.5U/ml; IQR: 17.6-82.9U/ml; P < 0.001). CA125 sensitivity, specificity, positive, and negative likelihood ratios were 88.5%, 61.3%, 2.10, and 0.19, respectively. Median plasma OPN levels were higher in subjects with ovarian cancer (63.1 ng/ml; IQR: 39.3-137 ng/ml vs. 27 ng/ml; IQR: 20-52 ng/ml; P = 0.001). Sensitivity, specificity, positive, and negative likelihood ratios of OPN were 50%, 87%, 2.58, and 0.62, respectively. Conclusion: OPN levels were higher in ovarian cancer than in the benign ovarian mass and had better specificity than CA125. OPN can better differentiate between benign and malignant ovarian mass as compared to CA125.

Pharmacokinetic evaluation of Chalcone derivatives with antimalarial activity in New Zealand White Rabbits.

OBJECTIVE: Malaria is a major global health concern with the urgent need for new treatment alternatives due to the alarming increase of drug-resistant Plasmodium strains. Chalcones and its derivatives are important pharmacophores showing antimalarial activity. Determination of the pharmacokinetic variables at the preliminary step of drug development for any drug candidates is an essential component of in vivo antimalarial efficacy tests. Substandard pharmacokinetic variables are often responsible for insufficient therapeutic effect. Therefore, three chalcone derivatives, 1, 2, and 3, having antimalarial potency were studied further for potential therapeutic efficacy. RESULTS: In vivo pharmacokinetic studies of these three derivatives were performed on New Zealand White rabbits. The three derivatives were administered intra-peritoneally or orally at effective dose concentration and blood samples at different time points were collected. The determination of drug concentration was done through reverse phase-high performance liquid chromatography. The peak plasma concentration of derivative 1, 2, and 3 were 1.96 ± 0.46 µg/mL (intraperitoneal route), 69.89 ± 5.49 µg/mL (oral route), and 3.74 ± 1.64 µg/mL (oral route). The results indicate a very low bioavailability of these derivatives. The present study gives a benchmark to advance the investigation of more derivatives in order to revamp the pharmacokinetic variables while maintaining both potency and metabolic constancy.

Association of ACE2 receptor and ACEIs/ARBs with disease severity in COVID-19.

Coronavirus disease 2019 (COVID-19) is found to be associated with various comorbidities which include cardiovascular diseases, hypertension, and diabetes. The impaired regulation of renin-angiotensin-aldosterone system (RAAS) has been seen in COVID-19 patients, but whether RAAS inhibitors, such as angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin II type 1 receptor blockers (ARBs), are responsible for worsening of clinical conditions remains unknown. Herein, we review the role of angiotensin-converting enzyme 2 (ACE2) expression in disease progression, its association with comorbidities and COVID-19, and summarize the clinical evidence for several potential directions for future research work on ACEIs/ARBs in COVID-19 patients.

Recent Trends and the Impact of the Affordable Care Act on Emergency Department Visits and Hospitalizations for Gastrointestinal, Pancreatic, and Liver Diseases.

BACKGROUND: The Affordable Care Act (ACA) with Medicaid expansion implemented in 2014, extended health insurance to >20-million previously uninsured individuals. However, it is unclear whether enhanced primary care access with Medicaid expansion decreased emergency department (ED) visits and hospitalizations for gastrointestinal (GI)/pancreatic/liver diseases. METHODS: We evaluated trends in GI/pancreatic/liver diagnosis-specific ED/hospital utilization over a 5-year period leading up to Medicaid expansion and a year following expansion, in California (a state that implemented Medicaid expansion) and compare these with Florida (a state that did not). RESULTS: From 2009 to 2013, GI/pancreatic/liver disease ED visits increased by 15.0% in California and 20.2% in Florida and hospitalizations for these conditions decreased by 2.6% in California and increased by 7.9% in Florida. Following Medicaid expansion, a shift from self-pay/uninsured to Medicaid insurance was seen California; in addition, a new decrease in ED visits for nausea/vomiting and GI infections, was evident, without associated change in overall ED/hospital utilization trends. Total hospitalization charges for abdominal pain, nausea/vomiting, constipation, and GI infection diagnoses decreased in California following Medicaid expansion, but increased over the same time-period in Florida. CONCLUSIONS: We observed a striking payer shift for GI/pancreatic/liver disease ED visits/hospitalizations after Medicaid expansion in California, indicating a shift in the reimbursement burden in self-pay/uninsured patients, from patients and hospitals to the government. ED visits and hospitalization charges decreased for some primary care-treatable GI diagnoses in California, but not for Florida, suggesting a trend toward lower cost of gastroenterology care, perhaps because of decreased hospital utilization for conditions amenable to outpatient management.

Exploration of genetic diversity of Plasmodium vivax circumsporozoite protein (Pvcsp) and Plasmodium vivax sexual stage antigen (Pvs25) among North Indian isolates.

BACKGROUND: Malaria is one of the important vector-borne diseases with high fatality rates in tropical countries. The pattern of emergence and spread of novel antigenic variants, leading to escape of vaccine-induced immunity might be factors responsible for severe malaria. A high level of polymorphism has been reported among malarial antigens which are under selection pressure imposed by host immunity. There are limited reports available on comparative stage-specific genetic diversity among Plasmodium vivax candidate genes in complicated vivax malaria. The present study was planned to study genetic diversity (Pvcsp and Pvs25) among complicated and uncomplicated P. vivax isolates. METHODS: Pvcsp and Pvs2-specific PCRs and DNA sequencing were performed on P. vivax PCR positive samples. Genetic diversity was analysed using appropriate software. RESULTS: The present study was carried out on 143 P. vivax clinical isolates, collected from Postgraduate Institute of Medical Education and Research, Chandigarh. Among the classic and variant types of Pvcsp, the VK210 (99%; 115/116) was found to be predominant in both complicated and uncomplicated group isolates. Out of the various peptide repeat motifs (PRMs) observed, GDRADGQPA (PRM1) and GDRAAGQPA (PRM2) was the most widely distributed among the P. vivax isolates. Whereas among the Pvs25 isolates, 100% of double mutants (E97Q/I130T) in both the complicated (45/45) as well as in the uncomplicated (81/81) group was observed. CONCLUSION: An analysis of genetic variability enables an understanding of the role of genetic variants in severe vivax malaria.

Screening and identification of potential novel biomarker for diagnosis of complicated Plasmodium vivax malaria.

BACKGROUND: In the recent years Plasmodium vivax has been reported to cause severe infections associated with mortality. Clinical evaluation has limited accuracy for the early identification of the patients progressing towards the fatal condition. Researchers have tried to identify the serum and the plasma-based indicators of the severe malaria. Discovery of MicroRNA (miRNA) has opened up an era of identification of early biomarkers for various infectious and non-infectious diseases. MicroRNAs (miRNA) are the small non-coding RNA molecules of length 19-24 nts and are responsible for the regulation of the majority of human gene expressions at post transcriptional level. METHODS: We identified the differentially expressed miRNAs by microarray and validated the selected miRNAs by qRT-PCR. We assessed the diagnostic potential of these up-regulated miRNAs for complicated P. vivax malaria. Futher, the bioinformtic analysis was performed to construct protein-protein and mRNA-miRNA networks to identify highly regulated miRNA. RESULTS: In the present study, utility of miRNA as potential biomarker of complicated P. vivax malaria was explored. A total of 276 miRNAs were found to be differentially expressed by miRNA microarray and out of which 5 miRNAs (hsa-miR-7977, hsa-miR-28-3p, hsa-miR-378-5p, hsa-miR-194-5p and hsa-miR-3667-5p) were found to be significantly up-regulated in complicated P. vivax malaria patients using qRT-PCR. The diagnostic potential of these 5 miRNAs were found to be significant with sensitivity and specificity of 60-71% and 69-81% respectively and area under curve (AUC) of 0.7 (p < 0.05). Moreover, in silico analysis of the common targets of up-regulated miRNAs revealed UBA52 and hsa-miR-7977 as majorly regulated hubs in the PPI and mRNA-miRNA networks, suggesting their putative role in complicated P. vivax malaria. CONCLUSION: miR-7977 might act as a potential biomarker for differentiating complicated P. vivax malaria from uncomplicated type. The elevated levels of miR-7977 may have a role to play in the disease pathology through UBA52 or TGF-beta signalling pathway.

Split Notochord Syndrome: A Rare Variant.

Split notochord syndrome represents an extremely rare and pleomorphic form of spinal dysraphism characterized by a persistent communication between the endoderm and the ectoderm, resulting in splitting or deviation of the notochord. It manifests as a cleft in the dorsal midline of the body through which intestinal loops are exteriorized and even myelomeningoceles or teratomas may occur at the site. A rare variant was diagnosed on autopsy of a 23+4-week-old fetus showing a similar dorsal enteric fistula and midline protruding intestinal loops in thoracolumbar region. The anteroposterior radiograph showed a complete midline cleft in the vertebral bodies from T11 to L5 region, and a split in the spinal cord was further confirmed by ultrasonography. Myelomeningocele was erroneously reported on antenatal ultrasound. Thus, awareness of this rare anomaly is necessary to thoroughly evaluate the cases of such spinal defects or suspected myelomeningoceles.

Progress on Azadirachta indica Based Biopesticides in Replacing Synthetic Toxic Pesticides.

Over the years, extensive use of commercially available synthetic pesticides against phytophagous insects has led to their bioaccumulation in the environment causing increased resistance and reduction in soil biodiversity. Further, 90% of the applied pesticides enter the various environmental resources as a result of run-off, exposing the farmers as well as consumers of the agricultural produce to severe health issues. Therefore, growing attention has been given toward the development of alternate environmentally friendly pesticides/insecticides that would aid an efficient pest management system and also prevent chronic exposures leading to diseases. One such strategy is, the use of neem plant's (Binomial name: Azadirachta indica) active ingredients which exhibit agro-medicinal properties conferring insecticidal as well as immunomodulatory and anti-cancer properties. The most prominent constituent of neem is azadirachtin, which has been established as a pivotal insecticidal ingredient. It acts as an antifeedant, repellent, and repugnant agent and induces sterility in insects by preventing oviposition and interrupting sperm production in males. This review discusses, key neem pesticidal components, their active functional ingredients along with recent strategies on employing nanocarriers, to provide controlled release of the active ingredients and to improve their stability and sustainability.

Rare Site of Parasitic Dermoid Cyst at Uterovesical Fold of Peritoneum with Absent One-Sided Adnexa.

Teratomas are the most common type of germ cell tumour. It can be congenital or acquired and are usually found in gonads (testes and ovaries). Parasitic dermoid cysts are rare and their actual incidence is unknown. We are reporting a case of 25-year-old gravida two, para one and one living child, who underwent emergency cesarean section in view of symptomatic placenta previa. A parasitic dermoid cyst was found incidently in front of uterus which was attached to uterovasical fold of bladder. This cyst did not show any connection to uterus or adnexa. Uterus, uterine cavity, right side tube and ovary were normal. Her left sided fallopian tube and ovary was completely absent. She did not have any symptoms related to the dermoid cyst. Histopathology confirmed parasitic mature dermoid cyst.

Multifunctional iron bound lactoferrin and nanomedicinal approaches to enhance its bioactive functions.

Lactoferrin (Lf), an iron-binding protein from the transferrin family has been reported to have numerous functions. Even though Lf was first isolated from milk, it is also found in most exocrine secretions and in the secondary granules of neutrophils. Antimicrobial and anti-inflammatory activity reports on lactoferrin identified its significance in host defense against infection and extreme inflammation. Anticarcinogenic reports on lactoferrin make this protein even more valuable. This review is focused on the structural configuration of iron-containing and iron-free forms of lactoferrin obtained from different sources such as goat, camel and bovine. Apart for emphasizing on the specific beneficial properties of lactoferrin from each of these sources, the general antimicrobial, immunomodulatory and anticancer activities of lactoferrin are discussed here. Implementation of nanomedicinial strategies that enhance the bioactive function of lactoferrin are also discussed, along with information on lactoferrin in clinical trials.

Buccal versus vaginal misoprostol administration for the induction of first and second trimester abortions.

OBJECTIVES: To compare the effectiveness, side effects, and patient satisfaction of buccal versus vaginal misoprostol administration in first and second trimester induced abortions. METHODS: In first trimester, women received oral mifepristone followed by misoprostol either by buccal or vaginal route. In second trimester, women received oral mifepristone followed by repeated doses of misoprostol either by buccal or vaginal route. A comparative analysis using SPSS was done. RESULTS: In first trimester, success rate of medical abortion was 96 % in buccal group and 88 % in vaginal group. Nausea was the most common adverse effect which was similar in both groups. In second trimester, success rate was 96 % in buccal group and 80 % in vaginal group. A statistically higher incidence of nausea was noticed in buccal group. Patient satisfaction level was almost similar in both the groups in both trimesters. CONCLUSIONS: Buccal and vaginal routes of misoprostol administration have similar efficacy and patient satisfaction level for first and second trimester induced abortions. Hence, buccal route may serve as an alternative to vaginal misoprostol.

Multilocular peritoneal inclusion cyst mimicking an ovarian tumor: A case report.

Peritoneal inclusion cysts are uncommon abdominopelvic cysts seen in perimenopausal women. It is often misdiagnosed clinically as an ovarian tumor due to similar presentation and mimicking findings on radiology. We describe a perimenopausal woman presenting with pelvic mass. Her clinical finding on radiology suggested an ovarian tumor; however, biopsy revealed it as peritoneal inclusion cysts. We discuss the possible ways to avoid such mistakes.