An assessment of a sleep aid and sleep promotion practices in hospitalized medical patients.

BACKGROUND: Half of patients admitted to medicine units report sleep disruption, which increases the risk of sleep deprivation. Non-pharmacological interventions are the first step to improving sleep. However, utilization of sleep aids continues to be prevalent. Limited data are available on sleep aid prescribing practices across transitions of care. OBJECTIVES: The aim of this study was to describe the current practices for assessing sleep and prescribing pharmacologic agents to promote sleep in the adult medicine population. METHODS: This study was designed as a single-center, retrospective, observational cohort study of all patients discharged by the general medicine teams over a 3-month period (September 2019- November 2019). Prior to admission, inpatient and discharge prescriptions for sleep aids were recorded, and documentation of sleep assessments and non-pharmacological interventions were evaluated. RESULTS: Of 754 patients included, 211 (28%) were prescribed a sleep aid while inpatient. During hospitalization, 124 (16%) patients had at least one documented sleep assessment, and only 22 (3%) were ordered the institutional non-pharmacological sleep promotion order set. The most prescribed sleep aid in inpatients was melatonin (50%), as well as prior to admission (35%) and at discharge (25%). Overall, the relative reduction in sleep aid prescriptions between admission and discharge was 67%. CONCLUSION: Inpatient sleep aid prescribing is common in medical patients. Despite this, sleep assessments and the standard of care of non-pharmacological interventions are rarely utilized. Future efforts should focus on implementation of strategies to make sleep assessments and non-pharmacological sleep promotion routine and consistent in the inpatient setting.

Cytomorphological findings of Trichophyton rubrum infection in an elderly hypertensive woman.

Trichophyton is a dermatophytic fungi causing superficial skin infections which affects outermost layer of the epidermis, stratum corneum, and mainly involves feet, groin, scalp, and nails. Invasion into the dermis occurs mainly in immunocompromised patients. A 75-year-old hypertensive female presented with a nodular swelling on the dorsum of right foot for 1 month. The swelling was 1.0 × 1.0 cm and gradually progressive in nature. FNAC revealed many thin filamentous branching and fungal hyphae along with foreign body granulomas and suppurative acute inflammation. The swelling was excised and sent for histopathological examination which confirmed the above findings. Periodic Acid Schiff stain showed fungal hyphae in both cytology smear as well as histopathology section. On fungal culture, microconidia with septate hyphae suggestive of Trichophyton rubrum was seen. Trichophytons mainly affect immunocompromised and diabetic patients, however, may present as nodular lesions without any history of superficial dermatophytosis as seen in the present case. The characteristic cytological picture helped to clinch the diagnosis in this case and facilitated further management.

Tensor-RT-Based Transfer Learning Model for Lung Cancer Classification.

Cancer is a leading cause of death across the globe, in which lung cancer constitutes the maximum mortality rate. Early diagnosis through computed tomography scan imaging helps to identify the stages of lung cancer. Several deep learning-based classification methods have been employed for developing automatic systems for the diagnosis and detection of computed tomography scan lung slices. However, the diagnosis based on nodule detection is a challenging task as it requires manual annotation of nodule regions. Also, these computer-aided systems have yet not achieved the desired performance in real-time lung cancer classification. In the present paper, a high-speed real-time transfer learning-based framework is proposed for the classification of computed tomography lung cancer slices into benign and malignant. The proposed framework comprises of three modules: (i) pre-processing and segmentation of lung images using K-means clustering based on cosine distance and morphological operations; (ii) tuning and regularization of the proposed model named as weighted VGG deep network (WVDN); (iii) model inference in Nvidia tensor-RT during post-processing for the deployment in real-time applications. In this study, two pre-trained CNN models were experimented and compared with the proposed model. All the models have been trained on 19,419 computed tomography scan lung slices, which were obtained from the publicly available Lung Image Database Consortium and Image Database Resource Initiative dataset. The proposed model achieved the best classification metric, an accuracy of 0.932, precision, recall, an F1 score of 0.93, and Cohen's kappa score of 0.85. A statistical evaluation has also been performed on the classification parameters and achieved a p-value <0.0001 for the proposed model. The quantitative and statistical results validate the improved performance of the proposed model as compared to state-of-the-art methods. The proposed framework is based on complete computed tomography slices rather than the marked annotations and may help in improving clinical diagnosis.

Gastritis as an immunotherapy-related toxicity in the treatment of endometrial cancer: A case report.

Gastritis related to immunotherapy use is a less commonly reported adverse effect. With increasing use of immunotherapy agents in the management of patients with endometrial cancer, even rare adverse effects are being seen more frequently in gynecologic oncology practice. A 66-year-old with recurrent mismatch repair deficient endometrial cancer was treated with single-agent pembrolizumab. She initially appeared to tolerate treatment well; however after 16 months of therapy she began to develop nausea, vomiting, and abdominal pain that resulted in 30-pound weight loss. Pembrolizumab was held out of concern for immunotherapy related toxicity. She underwent evaluation with gastroenterology including esophagogastroduodenoscopy (EGD) with biopsy that demonstrated severe lymphocytic gastritis. She was treated with IV methylprednisolone with improvement in symptoms over three days. She was then transitioned to oral prednisone at 60 mg daily with weekly taper by 10 mg, with a proton pump inhibitor (PPI) and carafate until resolution of symptoms. She subsequently had a follow up EGD with biopsy, which demonstrated resolving gastritis. She is presently doing well off of steroids with stable disease noted on her last scan after cessation of pembrolizumab.

WHO-Point Prevalence Survey of Antibiotic Use Among Inpatients at a Core National Antimicrobial Consumption Network Site in North India: Findings and Implications.

Data on Point Prevalence Surveys (PPSs) in India are limited yet. We report findings of a PPS conducted in a core "National Antimicrobial Consumption Network site" under National Centre for Disease Control - WHO project "Point prevalence survey of antimicrobial consumption at healthcare facilities." A cross-sectional survey was conducted as per the "WHO methodology for PPS on antibiotic use in hospitals" in a tertiary care hospital in India in December 2021. Data were collected using predesigned and pretested questionnaire in separate hospital, ward, and patient forms. Eight hundred two inpatients (excluding ICUs) were covered out of whom 299 (37.3%) were on antibiotics with 11.7% receiving 3 or more antibiotics. Surgical prophylaxis (SP) (42.5%) and community acquired infections (32.8%) were the most common indications for antibiotic use. Of the patients, 92.5% received SP for more than 24 hrs. Most commonly prescribed antibiotics were penicillins with beta-lactamase inhibitors (22.3%). Of the total antibiotic prescriptions, 81.5% were from WHO essential medicines list and 12% from "not recommended" WHO AWaRe classification. Of the antibiotic prescriptions, 84.6% were parenteral. Few prescriptions complied with standard treatment guidelines (1.9%), documented indication for antibiotic use (11.6%), and stop/review date (4.4%) in notes. Double anaerobic cover accounted for 6.8% of the total prescriptions. Some identified areas for improvement were: formulation of hospital antibiotic guidelines, promoting culture of sending cultures, improvement in surgical antibiotic prophylaxis, decreasing use of antibiotic combinations and double anaerobic cover, fostering IV to oral switch of antibiotics, and ensuring effective communication among health care workers by documenting adequate information in medical notes.

Fever of Unknown Origin and Hepatitis as the Initial Presentation of Anti-MDA-5 Positive Dermatomyositis: A Case Report.

Petersdorf and Beeson first defined fever of unknown origin (FUO) in 1961, and subsequently, over the next 60 years, the definition of FUO has changed considerably. In the western world, non-infectious inflammatory diseases are the most common cause of FUO; however, in developing countries, infections remain the leading cause of FUO. Dermatomyositis (DM) is an autoimmune inflammatory disease of unknown aetiology which mainly affects skin and muscles. Anti-melanoma differentiation-associated protein 5 (MDA-5) positive DM generally presents with classical cutaneous manifestations, early interstitial lung disease, and patients generally do not have clinical features of muscle involvement. We present a case of a 39-year-old male who presented with FUO and hepatitis and was diagnosed as clinically amyopathic DM after two weeks of admission. Subsequently, he was found to have a high titre of Anti-MDA-5 antibody. This is the first case of Anti-MDA-5 positive DM presenting as FUO and hepatitis with a favourable outcome to the best of our knowledge.

Heterocyclic Compounds: Importance in Anticancer Drug Discovery.

Cancer, a crucial global health problem, is characterized by abnormal cell division and uncontrolled growth. According to WHO, cancer is the second leading cause of global deaths and accounted for approximately 9.6 million deaths or one in six deaths in 2018. The National Cancer Registry Programme Report 2020, released by the ICMRIndia, estimated that there would be 13,90,000 cases of cancer in India in 2020 and that this number is likely to rise to 15,70,000 by 2025. In spite of several anti-cancer drugs, cancer cannot be cured completely, especially at late stages. In the current era, almost every person is suffering from some kind of disease. Thus, it is the necessity of time to develop novel, potent bioactive molecules. Many researchers are working on the development of new lead molecules or finding a new biological target for the betterment of human beings. However, heterocycles are constantly being used for the discovery of new lead molecules. Many of the clinically approved drugs contain the heterocyclic core as these molecules show exhilarating pharmaceutical properties, including anti-cancer agents such as methotrexate, vinblastine, vincristine, daunorubicin, 5-fluorouracil, doxorubicin, etc. Thus, heterocyclic compounds provide a fascinating research area for the design and development of anti-cancer drug(s). Herein, we focused on the natural as well as synthetic anti-cancer heterocyclic compounds. Furthermore, efforts have been made toward the mechanism of action of selected heterocyclic anti-cancer compounds.

Superior Mesenteric Artery Stenosis Due to Disseminated Tuberculosis in a Pediatric Patient.

Disseminated tuberculosis (TB) associated with mesenteric arteritis has not been established in children. We present the case of an 8-year-old woman who presented with TB and superior mesenteric artery stenosis. Although rare, large vessel involvement from Takayasu arteritis can occur in TB. Evaluation for mesenteric vessel involvement should be considered in pediatric patients presenting with widely disseminated TB and abdominal pain.

Systematic Next Generation Sequencing is feasible in clinical practice and identifies opportunities for targeted therapy in women with uterine cancer: Results from a prospective cohort study.

BACKGROUND: Both incidence and mortality of uterine cancer are on the rise and mortality is higher for African American women. The aim of our study was to evaluate how Next Generation Sequencing (NGS) may facilitate identification of and intervention for treatment disparities when integrated into clinical workflows. RESULTS: Our cohort included 159 uterine cancer patients with recurrent/progressive and newly diagnosed advanced stage and/or high-risk histology. The most common tumor histological subtypes included EEC (n = 67), SEC (n = 34), UCS (n = 20), and mixed (n = 14). Black patients were most likely to present with aggressive histology: (SEC, 34.0%) and carcinosarcoma (UCS, 14.0%). The four most common mutations across all subtypes were TP53, PIK3CA, PTEN, and ARID1A. There was racial disparity between Black versus non-Black patients who were initiated on targeted therapy (28.2% vs. 38.2%, respectively) and clinical trial (15% vs. 22.6%, respectively). Compared to non-Black patients, Black patients had a significantly higher percentage TP53 mutations (p < 0.05) and a significantly lower percentage ARID1A mutations (p < 0.05). CONCLUSIONS: NGS for uterine malignancies provides actionable information for targetable mutations and/or clinical trial enrollment in most patients; further investigation is necessary to identify potentially modifiable factors contributing to current disparities that may improve targeted therapy uptake and clinical trial participation.

Strategies in Overcoming Homologous Recombination Proficiency and PARP Inhibitor Resistance.

Ovarian cancer is the second most common gynecologic malignancy in the United States and the most common cause of gynecologic cancer-related death. The majority of ovarian cancers ultimately recur despite excellent response rates to upfront platinum- and taxane-based chemotherapy. Maintenance therapy after frontline treatment has emerged in recent years as an effective tool for extending the platinum-free interval of these patients. Maintenance therapy with PARP inhibitors (PARPis), in particular, has become part of standard of care in the upfront setting and in patients with platinum-sensitive disease. Homologous recombination deficient (HRD) tumors have a nonfunctioning homologous recombination repair (HRR) pathway and respond well to PARPis, which takes advantage of synthetic lethality by concomitantly impairing DNA repair mechanisms. Conversely, patients with a functioning HRR pathway, that is, HR-proficient tumors, can still elicit benefit from PARPi, but the efficacy is not as remarkable as what is seen in HRD tumors. PARPis are ineffective in some patients due to HR proficiency, which is either inherent to the tumor or potentially acquired as a method of therapeutic resistance. This review seeks to outline current strategies employed by clinicians and scientists to overcome PARPi resistance-either acquired or inherent to the tumor.

Quality Improvement Amid a Global Pandemic: A Virtual Curriculum for Medical Students in the Time of COVID-19.

Introduction: The COVID-19 pandemic in March of 2020 necessitated the removal of medical students from direct patient care activities to prevent disease spread and to conserve personal protective equipment. In order for medical student education to continue, virtual and online electives were designed and implemented expeditiously. We created a virtual curriculum that taught quality improvement (QI) skills within the context of the global pandemic. Methods: This 4-week curriculum enrolled 16 students. Students completed the revised QI knowledge application tool (QIKAT-R) before and after the course to assess QI knowledge. Students completed prereading, online modules, and received lectures on QI and incident command systems. Each group designed their own QI project related to our hospital system's response to the pandemic. Finally, groups presented their projects at a peer symposium and completed peer evaluations. Results: Students' QIKAT-R scores improved throughout the course from a mean of 5.5 (SD = 1.3) to a mean of 7.5 (SD = 1.1; p < 0.001). Students reported that the virtual learning experience delivered the material effectively, and all students agreed that they would participate in QI work in the future. Discussion: Patient safety and QI topics are content areas for multiple medical licensing examinations. Virtual learning is an effective way to deliver QI content to medical students and residents, especially when projects are trainee-led, QI-trained faculty serve as mentors, and the projects harmonize with institutional goals. Our virtual pandemic-focused curriculum has demonstrated efficacy in increasing medical student QI knowledge.

Olfactory Dysfunction Among Asymptomatic Patients with SARS CoV2 Infection: A Case-Control Study.

Olfactory dysfunction (hyposmia, anosmia) is a well-recognized symptom in patients with coronavirus disease-19 (COVID-19). Studies of olfactory dysfunction in asymptomatic patients have not been reported. We conducted a study looking for the presence of olfactory dysfunction with an objective assessment tool in asymptomatic Covid 19 and compared it with patients with mild COVID-19 and age-matched controls. We recruited 57 male patients each of Mild COVID-19, asymptomatic Covid 19, and healthy controls for the study. All participants underwent evaluation of smell threshold by Butanol Threshold test (BTT) and ability to distinguish common odors by Smell identification test. The scores of each test were recorded on a numerical scale. The participants in all three arms were matched for age, history of smoking, and pre-existing medical conditions. The mean scores of the Butanol Threshold test in Mild COVID-19, asymptomatic Covid 19 and controls were 2.95 ± 2.25 (0-7.5), 3.42 ± 2.23 (0-7.5), and 4.82 ± 1.86 (0-8), respectively. A one-way ANOVA showed a significant difference between groups (df 2, MS 53.78, F 11.94, p < 0.005). Intergroup differences using the student T-test showed significantly low BTT scores in Mild COVID-19 (p < 0.005) and asymptomatic (p < 0.005) as compared to control. BTT scores could not distinguish between asymptomatic patients and control. The smell threshold was impaired in asymptomatic Covid 19 and Mild COVID-19. Butanol Threshold Test score could not differentiate between asymptomatic Covid 19 and controls.

Epidemiology of Intensive Care Unit-acquired Infections in a Tertiary Care Hospital of North India.

BACKGROUND: The majority of nosocomial infections in the hospital setting are found in intensive care units (ICUs). The present study was undertaken to determine the incidence, risk factors, causative microorganisms, and outcome of various ICU-acquired infections. MATERIALS AND METHODS: The patients admitted to the ICU of a teaching hospital in North India were prospectively studied. Detailed history, clinical examination, acute physiology and chronic health evaluation score II, simplified acute physiology score II, sequential organ failure assessment score, and baseline investigations were recorded. Patients were assessed daily till 14th day for nosocomial infection as per Centers for Disease Control and Prevention (CDC) guidelines and were followed till death or discharge. Incidence, risk factors, and outcome parameters were calculated using Student t-test, Chi-square test, and stepwise multivariate logistic regression model. RESULTS: The overall incidence rate of ICU infections was 27.9%. The most common ICU-acquired infection was ventilator-associated pneumonia followed by catheter-related bloodstream infection and catheter-associated urinary tract infection. Pseudomonas aeruginosa, Acinetobacter baumannii, and Klebsiella pneumoniae were implicated in most of the infections. ICU length of stay (LOS) >7 days, neurological dysfunction, endotracheal intubation, ischemic heart disease, and use of antacids/H2 blockers were significantly associated with ICU-acquired infections. The mortality rate was 32.8 and 28.8% in patients with and without ICU infections, respectively (p = 0.531). The ICU LOS (19.23 ± 12.79 days) was significantly higher in the ICU infections group (p <0.001). CONCLUSION: Ventilator-associated pneumonia was the most common nosocomial infection in our study. Gram-negative microorganisms were the predominant causative agents for various ICU-acquired infections. Mortality was not found to be affected but ICU LOS was significantly prolonged as a consequence of the development of ICU-acquired infection. HOW TO CITE THIS ARTICLE: Kumar A, Chaudhry D, Goel N, Tanwar S. Epidemiology of Intensive Care Unit-acquired Infections in a Tertiary Care Hospital of North India. Indian J Crit Care Med 2021;25(12):1427-1433.

Extrapolation of hydroxytyrosol and its analogues as potential anti-inflammatory agents.

Discovery of potential lead molecule is a challenging, and complex process which require lots of money, patience, and manpower. Human beings are using natural products, predominantly secondary metabolites, for this purpose since ancient time and they are still working on them as a potent source for drug discovery due to their wide structural diversity. Phenolic phytochemicals such as hydroxytyrosol and tyrosol are natural antioxidant and involved in many biological disease cure. Herein, we have carried out the quantum chemical calculations for conformational analysis, geometry optimization and computation of electronic as well as optical properties of hydroxytyrosol and its analogues (1a-1k) in terms of density functional theory by using Gaussian 09 program suite. The eventual charge transfer within the molecules has been confirmed by the analysis of frontier molecular orbitals. The molecular docking studies of 1a-1k with cyclooxygenase-2 showed the noticeable binding affinity as compared to other nonsteroidal anti-inflammatory drugs viz. aspirin, naproxen and celecoxib. Computation of pharmacokinetics and pharmacological properties confirmed the lead/drug like potential of these screened molecules. Furthermore, the molecular dynamics simulation of best three docked ligands (1f, 1h and 1k)-receptor complex and their binding free energy calculations reveals that these molecules bind in the catalytic cavity of cyclooxygenase-2 and found stable during the 100 ns of simulation. Communicated by Ramaswamy H. Sarma.

Class I histone deacetylase inhibition promotes CD8 T cell activation in ovarian cancer.

OBJECTIVE: Patients with epithelial ovarian cancer (EOC) typically present with late-stage disease, posing a significant challenge to treatment. Although taxane and platinum-based chemotherapy plus surgical debulking are initially effective, EOC is marked by frequent recurrence with resistant disease. Immunotherapy represents an appealing treatment paradigm given the ability of immune cells to engage metastatic sites and impede recurrence; however, response rates to checkpoint blockade in ovarian cancer have been disappointing. Here, we tested whether class I HDAC inhibition can promote anti-tumor T cell responses in a spontaneous and nonspontaneous murine model of EOC. METHODS: We used the spontaneous Tg-MISIIR-Tag and nonspontaneous ID8 models of murine ovarian cancer to test this hypothesis. Whole tumor transcriptional changes were assessed using the nCounter PanCancer Mouse Immune Profiling Panel. Changes in select protein expression of regulatory and effector T cells were measured by flow cytometry. RESULTS: We found that treatment with the class I HDAC inhibitor entinostat upregulated pathways and genes associated with CD8 T cell cytotoxic function, while downregulating myeloid derived suppressor cell chemoattractants. Suppressive capacity of regulatory T cells within tumors and associated ascites was significantly reduced, reversing the CD8-Treg ratio. CONCLUSIONS: Our findings suggest class I HDAC inhibition can promote activation of intratumoral CD8 T cells, potentially by compromising suppressive networks within the EOC tumor microenvironment. In this manner, class I HDAC inhibition might render advanced-stage EOC susceptible to immunotherapeutic treatment modalities.

Inhibiting WNT Ligand Production for Improved Immune Recognition in the Ovarian Tumor Microenvironment.

In ovarian cancer, upregulation of the Wnt/ß-catenin pathway leads to chemoresistance and correlates with T cell exclusion from the tumor microenvironment (TME). Our objectives were to validate these findings in an independent cohort of ovarian cancer subjects and determine whether inhibiting the Wnt pathway in a syngeneic ovarian cancer murine model could create a more T-cell-inflamed TME, which would lead to decreased tumor growth and improved survival. We preformed RNA sequencing in a cohort of human high grade serous ovarian carcinoma subjects. We used CGX1321, an inhibitor to the porcupine (PORCN) enzyme that is necessary for secretion of WNT ligand, in mice with established ID8 tumors, a murine ovarian cancer cell line. In order to investigate the effect of decreased Wnt/ß-catenin pathway activity in the dendritic cells (DCs), we injected ID8 cells in mice that lacked ß-catenin specifically in DCs. Furthermore, to understand how much the effects of blocking the Wnt/ß-catenin pathway are dependent on CD8+ T cells, we injected ID8 cells into mice with CD8+ T cell depletion. We confirmed a negative correlation between Wnt activity and T cell signature in our cohort. Decreasing WNT ligand production resulted in increases in T cell, macrophage and dendritic cell functions, decreased tumor burden and improved survival. Reduced tumor growth was found in mice that lacked ß-catenin specifically in DCs. When CD8+ T cells were depleted, CGX1321 treatment did not have the same magnitude of effect on tumor growth. Our investigation confirmed an increase in Wnt activity correlated with a decreased T-cell-inflamed environment; a relationship that was further supported in our pre-clinical model that suggests inhibiting the Wnt/ß-catenin pathway was associated with decreased tumor growth and improved survival via a partial dependence on CD8+ T cells.

Exploration of interaction mechanism of tyrosol as a potent anti-inflammatory agent.

Drug discovery for a vigorous and feasible lead candidate is a challenging scientific mission as it requires expertise, experience, and huge investment. Natural products and their derivatives having structural diversity are renowned source of therapeutic agents since many years. Tyrosol (a natural phenylethanoid) has been extracted from olive oil, and its structure was confirmed by elemental analysis, FT-IR, FT-NMR, and single crystal X-ray crystallography. The conformational analysis for tyrosol geometry was performed by Gaussian 09 in terms of density functional theory. Validation of bond lengths and bond angles obtained experimentally as well as theoretically were performed with the help of curve fitting analysis, and values of correlation coefficient (R) obtained as 0.988 and 0.984, respectively. The charge transfer within the tyrosol molecule was confirmed by analysis of HOMO→LUMO molecular orbitals. In molecular docking with COX-2 (PDB ID: 5F1A), tyrosol was found to possess satisfactory binding affinity as compared to other NSAIDs (Aspirin, Ibuprofen, and Naproxen) and a COX-2 selective drug (Celecoxib). ADMET prediction, drug-likeness and bioactivity score altogether confirm the lead/drug like potential of tyrosol. Further investigation of simulation quality plot, RMSD and RMSF plots, ligands behavior plot as well as post simulation analysis manifest the consistency of 5F1A-tyrosol complex throughout the 20 ns molecular simulation process that signifies its compactness and stability within the receptor pocket. AbbreviationsADMETAbsorption, Distribution, Metabolism, Excretion and ToxicityÅAngstromCOX-2Cyclooxygenase-2DFTDensity Functional TheoryDMFDimethylformamideFMOFrontier Molecular OrbitalFT-IRFourier-transform Infrared SpectroscopyFT-NMRNuclear Magnetic Resonance SpectroscopyHOMOHighest Occupied Molecular OrbitalLUMOLowest Unoccupied Molecular OrbitalMDMolecular DynamicsNSNanosecondNSAIDsNon-steroidal anti-inflammatory drugsOPEOsiris Property ExplorerRMSDRoot-Mean-Square DeviationRMSFRoot Sean Square FluctuationCommunicated by Ramaswamy H. Sarma.

Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis.

BACKGROUND: Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from 'all-at-once' catastrophic cellular events. The complexity of these rearrangements and the original descriptions in cancer cells initially led to the assumption that it was an acquired anomaly. While rare, these phenomena involving chromosome 1 have been reported a few individuals in a constitutional setting. CASE PRESENTATION: Here, we describe a newborn baby who was initially referred for cytogenetic testing for multiple congenital anomalies including cystic encephalomalacia, patent ductus arteriosus, inguinal hernia, and bilateral undescended testicles. Chromosome analysis was performed and revealed a derivative chromosome 1 with an 1q24-q31 segment inserted into 1q42.13 resulting in gain of 1q24-q31. Whole genome SNP microarray analysis showed a complex pattern of copy number variants with four gains and one loss involving 1q24-q31. Mate pair next-generation sequencing analysis revealed 18 chromosome breakpoints, six gains along an 1q24-q31 segment, one deletion of 1q31.3 segment and one deletion of 1q42.13 segment, which is strongly evocative of a chromoanasynthesis event for developing this complex rearrangement. Parental chromosome analyses were performed and showed the same derivative chromosome 1 in the mother. CONCLUSIONS: To our knowledge, our case is the first case with familial constitutional chromoanagenesis involving chromosome 1q24-q42. This report emphasizes the value of performing microarray and mate pair next-generation sequencing analysis for individuals with germline abnormal or complex chromosome rearrangements.

Phenolic acids: Natural versatile molecules with promising therapeutic applications.

Plant phenolics are considered to be a vital human dietary component and exhibit a tremendous antioxidant activity as well as other health benefits. Epidemiology evidence indicates that a diet rich in antioxidant fruits and vegetables significantly reduces the risk of many oxidative stress related diseases viz. cancers, diabetes and cardiovascular. The number and position of hydroxyl group in a particular phenolic compound leads to the variation in their antioxidant potential. Polyphenols are the main source of dietary antioxidants, and are effortlessly absorbed in the intestine. Phenolic acids, a sub class of plant phenolics, possess phenol moiety and resonance stabilized structure which causes the H-atom donation results in antioxidant property through radical scavenging mechanism. Other mode such as radical quenching via electron donation and singlet oxygen quenching are also known for the antioxidant activity of phenolic acids. Furthermore, phenolic acids are found ubiquitously and well documented for other health protective effects like antimicrobial, anticancer, anti-inflammatory, anti-mutagenic etc. The contribution emphasize on the phenolic acids potential in drug discovery. In addition their occurrence, biosynthesis, metabolism and health effects are discussed in detail.