Objectives: This study aims to describe the indications, complications, yield, and safety of amniocentesis beyond 24 weeks for prenatal diagnostic procedures along with the associated maternal and fetal outcomes.
Methods: A retrospective analysis was conducted on 60 pregnant women (with 61 fetuses) who underwent amniocentesis at or beyond 24 weeks from March 2021 to June 2023 at a tertiary care referral center. Data was collected from medical records and individual patient followups.
The therapeutic potential of the human genome has been explored through the development of next-generation therapeutics, which have had a high impact on treating genetic disorders. Classical treatments have traditionally focused on common diseases that require repeated treatments. However, with the recent advancements in the development of nucleic acids, utilizing DNA and RNA to modify or correct gene expression in genetic disorders, there has been a paradigm shift in the treatment of rare diseases, offering more potential one-time cure options.
View Article and Find Full Text PDFThe case of a 22-year-old man with cannabis-induced obsessive-compulsive disorder (OCD) is described in this case report. There is ample literature available regarding cannabis-induced psychotic and mood symptoms but there is dearth of literature about cannabis association with OCD. The importance of recognising cannabis-induced OCD is emphasized, given that in literature, it can be used in ameliorating OCD in a few studies.
View Article and Find Full Text PDFDiabetes Metab Syndr
February 2023
Background And Aim: Subjects with Turner syndrome (TS) are at increased risk of metabolic disorders. The objective of this study is to evaluate the prevalence of metabolic abnormalities in TS and compare the metabolic profiles of subjects with respect to their X chromosome dosage.
Methods: Sixty-four TS subjects with a mean age of 19 ± 4.
Mosaic variegated aneuploidy syndrome 2 (MVA2) (MIM# 614114) is a rare autosomal recessive condition caused by biallelic loss of function variants in the CEP57 gene. MVA2 is characterized by a variable phenotype ranging from poor growth to facial dysmorphism, short stature and congenital heart defects. Only 11 families and 5 pathogenic variants of MVA2 have been described so far.
View Article and Find Full Text PDFObjectives: Across diverse ethnic groups in the UK, explore attitudes and intentions towards COVID-19 vaccination and sources of COVID-19 information.
Design: Remote qualitative interviews and focus groups (FGs) conducted June-October 2020 before UK COVID-19 vaccine approval. Data were transcribed and analysed through inductive thematic analysis and mapped to the Theoretical Domains Framework.
Introduction: Radiation therapy is one of the most technically sophisticated branch of medical sciences which caters to very ill patients, some of whom may be terminally ill. Since patients are treated on an outpatient basis which requires daily visit to hospital for a number of days, it can make them sensitive toward any increase in waiting time for their radiation treatment. This could be a source of stress for them.
View Article and Find Full Text PDFObjectives: To explore public reactions to the COVID-19 pandemic across diverse ethnic groups.
Design: Remote qualitative interviews and focus groups in English or Punjabi. Data were transcribed and analysed through inductive thematic analysis.
Introduction: Nonimmune hydrops fetalis (NIHF) has varied etiology. We assessed the etiological spectrum and evaluated the utility of fetal whole exome sequencing (fWES) for the diagnosis of NIHF.
Methods: In this prospective cohort study, we evaluated antenatally diagnosed fetuses with NIHF between July 2018 and December 2019 according to the routine diagnostic algorithm.
J Pediatr Endocrinol Metab
September 2020
Objectives To evaluate if the parental origin of X-chromosome has an impact on the phenotype and biochemical profile in Turner syndrome (TS). Result of the previous studies have been equivocal and could be attributable to the multicentric study design with different experts examining heterogeneous TS population of various ethnic background. Methods A cross-sectional single center study from Northern India.
View Article and Find Full Text PDFPurpose: To evaluate the frequency and the association of Thrombospondin 1 (THBS1) gene single nucleotide polymorphisms (SNPs) in Asian Indian patients with optical full thickness corneal grafting surgery.
Methods: Prospective case-control analysis of optical penetrating keratoplasty patients with and without immune rejection and controls for genotyping of 3 THBS1 gene SNPs (rs1478604 A>G; rs2228261 C>T; rs2228262 A>G) by Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS PCR).
Results: Among 58 patients [45 with immune allograft rejection (DNA isolation was possible in 38 samples) and 13 without immune corneal allograft rejection] and 65 controls, allele frequencies observed for rs1478604 (A>G) are A: 69.
Reinwardtia indica belongs to Linaceae family and used as a folk medicine in Asian countries. Traditionally, it has been used in the treatment of paralysis and anti-microbial in wound healing, etc. The current study was undertaken in order to investigate the antioxidant and memory protective effect of the alcoholic (99.
View Article and Find Full Text PDFThe present study was to assess the toxicity of hydro alcoholic leaves extract of Reinwardtia indica in Charles foster rats through an acute and sub-acute study. In the acute study, rats were treated orally with single dose and for sub-acute study different doses were given orally for 28 consecutive days. At the dose of 2000 mg/kg satellite group was also used for 6 weeks as per OECD guidelines-407.
View Article and Find Full Text PDFThe present work documents an operationally simple, clean and practical method for accessing the 2,2-disubstituted indolin-3-one (pseudoindoxyl) scaffold. The rhodium carbenoid mediated reaction between N-o-alkylamino benzoylbenzotriazoles and aryl diazoacetates occurs smoothly in water and exploits the leaving group ability of the benzotriazole moiety to install the carbonyl function in the product. Other highlights of the methodology are a wide substrate scope and experimental practicality given the re-use of the benzotriazole byproduct for starting material preparation.
View Article and Find Full Text PDFAim: The study aimed to correlate the position of mandibular foramen with occlusal plane as a clinical guide for inferior alveolar nerve block (IANB) injection in children from 3 to 13 years of age.
Materials And Methods: The study was carried out on 180 children visiting our department and required orthopantomogram as a routine diagnostic aid. Mandibular casts were obtained and radiographs were digitally analyzed to obtain linear and angular measurements.
Objectives: Inflammation plays an important role in the pathogenesis of diabetic nephropathy (DN). The aim of this study was to explore the anti-inflammatory role of PTY-2r (extracted from Pueraria tuberosa), on streptozotocin (STZ)-induced DN rats.
Methods: Diabetes was induced by intraperitoneal injection of STZ (55mg/kg) in rats.
Background: Oxidative stress and renal apoptosis play a significant role in the progression of diabetic nephropathy. The tubers of Pueraria tuberosa (Roxb. ex Willd.
View Article and Find Full Text PDFBackground: Cyclin dependent kinase inhibitor 2A/B (CDKN2A/B) genes are implicated in many malignancies including acute lymphoblastic leukemia (ALL). These tumor suppressor genes, with a key regulatory role in cell cycle are located on chromosome 9p21.3.
View Article and Find Full Text PDFClin Psychopharmacol Neurosci
February 2018
Cognitive deficits are one of the core symptoms of schizophrenia that evolve during the course of schizophrenia, after being originated even before the onset of illness. Existing pharmacological and biological treatment modalities fall short to meet the needs to improve the cognitive symptoms; hence, various cognitive remediation strategies have been adopted to address these deficits. Research evidences suggest that cognitive remediation measures improve the functioning, limit disability bettering the quality of life.
View Article and Find Full Text PDFTwo major problems in chemotherapy, poor bioavailability of hydrophobic anticancer drug and its adverse side effects causing nausea, are taken into account by developing a sustained drug release vehicle along with enhanced bioavailability using two-dimensional layered double hydroxides (LDHs) with appropriate surface charge and its subsequent embedment in polymer matrix. A model hydrophobic anticancer drug, raloxifene hydrochloride (RH), is intercalated into a series of zinc iron LDHs with varying anion charge densities using an ion exchange technique. To achieve significant sustained delivery, drug-intercalated LDH is embedded in poly(ε-caprolactone) (PCL) matrix to develop intravenous administration and to improve the therapeutic index of the drug.
View Article and Find Full Text PDFBackgrounds: Kidney hypoxia represents a unifying mechanism in the pathogenesis of diabetic nephropathy. Hypoxia-induced factor (HIF)-1α mediates the metabolic responses of renal hypoxia by modulating the expression of VEGF. In the present study, we investigated the effect of Pueraria tuberosa extract (PTY-2r) on the expression of HIF-1α, VEGF and nephrin in streptozotocin (STZ) induced diabetic nephropathy (DN).
View Article and Find Full Text PDFBackground: Schiff bases have a broad spectrum of biological activities like antiinflammatory, analgesic, antimicrobial, anticonvulsant, antitubercular, anticancer, antioxidant, anthelmintic and so forth. Thus, after a thorough perusal of literature, it was decided to conjugate benzothiazol-2-ylamine/thiazolo [5, 4-b] pyridin-2-ylamine with aromatic and heteroaromatic aldehydes to get a series of Schiff bases.
Objective: Synthesis, characterization, in-silico toxicity profiling and anticonvulsant activity of the Schiff bases of Benzothiazol-2-ylamine and Thiazolo [5, 4-b] pyridin-2-ylamine.
Background: Currently, no drug is available to directly target the signaling molecules involved in the pathogenesis of diabetic nephropathy (DN); only antihypertensive and antidiabetic drugs are in clinical use. In the present study, the therapeutic effects of a active fraction of tubers from Pueraria tuberosa (hereafter referred to as PTY-2) were investigated in streptozotocin (STZ)-diabetic rats with DN, with particular emphasis on its effects on extracellular matrix (ECM) accumulation and matrix metalloproteinase (Mmp)-9 expression in kidney tissue.
Methods: Rats were injected with 55 mg/kg, i.