Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine Perspective.

Neonatal hypoglycemia (NH) is a common abnormality in newborns, posing significant morbidity risks. Prompt diagnosis and treatment are vital to mitigate brain damage and enhance outcomes. Congenital hyperinsulinemia (CHI) is a leading cause of recurrent hypoglycemia in infants, often stemming from genetic mutations such as in the  gene, manifesting as hyperinsulinism-hyperammonemia syndrome (HI/HA).

A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathy.

Tripartite motif-containing 8 (TRIM8) gene mutations are associated with autosomal dominantly inherited neurorenal syndrome. The kidney manifestations range from nephrotic range proteinuria to nephrotic syndrome and kidney failure. The histopathology has been focal segmental glomerulosclerosis (FSGS) in all reported cases.

Synthesis of R-GABA Derivatives via Pd(II) Catalyzed Enantioselective C(sp)-H Arylation and Virtual Validation with GABA Receptor for Potential leads.

GABA (γ-amino butyric acid) analogues like baclofen, tolibut, phenibut, etc., are well-known GABA inhibitors and pharmaceutically important drugs. However, there is a huge demand for more chiral GABA aryl analogues with promising pharmacological actions.

Genome-Based Therapeutics: Era of Precision Medicine in Genetic Epilepsies and Epileptic Encephalopathies.

Introduction: The recent evolution of genomics has led to the development of targeted therapeutics, revolutionizing medical approaches. This study aimed to assess the impact of genetic testing on the current epilepsy management paradigm with a specific focus on the variability of outcomes subsequent to genetic diagnoses.

Methodology: Data were collected retrospectively from a cohort of children aged 1-18 years, diagnosed with refractory epilepsy of confirmed genetic origin.

Knowledge, Attitude, and Practice of epilepsy in Wayanad, Kerala.

Objective: Epilepsy is a common neurological condition characterized by recurrent seizures. The aim of the study was to assess the level of Knowledge, Attitude, and Practices (KAP) in epilepsy in the district of Wayanad.

Methods: This study was conducted among adults residing in Wayanad.

Therapeutic Challenge in a Case of Recent Onset Refractory Cluster Seizures.

A dilemma exists in context to the timing of surgery in a case presenting with explosive onset seizures secondary to a focal cortical dysplasia (FCD). This case report highlights the challenges faced in the management of a 4-year-old child with recent onset cluster seizures refractory to anti-epileptic drugs. A 4-year-old girl presented with an acute onset of cluster seizures (up to 32 in a day), semiologically characterized by tonic upper limb extension and laughter lasting for few seconds with no response to multiple anti-epileptic drugs.

Pharmacoresistant Abdominal Seizures in Symptomatic Localization-Related Epilepsy.

Abdominal epilepsy is an uncommon cause of recurrent abdominal pain with or without other complaints seen in children and adults which often goes unnoticed. Here we are presenting a case of abdominal epilepsy in a 7-year boy who had recurrent abdominal pain since many years. He had a history of ventriculoperitoneal shunting which was performed for obstructive hydrocephalus at 1 month and left hemiparesis.

Clinical Profile, Yield of Cartridge-based Nucleic Acid Amplification Test (GeneXpert), and Outcome in Children with Tubercular Meningitis.

Background: GeneXpert MTB/RIF is a test for early, rapid diagnosis of tubercular meningitis (TBM).

Aim: The aim of this article was to study the clinical profile, radiological features, yield of GeneXpert, neurosurgical interventions, and outcome of TBM in children.

Settings And Design: This was a retrospective and prospective observational study.

Variable treatment response in a patient with pyridoxal phosphate oxidase (PNPO) deficiency- understanding the paradox.

A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication. Incomplete control of seizures was achieved on starting pyridoxine, riboflavin and thiamine.

Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis.

Background: Hyperammonemia and hyperlactatemia in neonates and young children with non-specific biochemical markers poses a diagnostic challenge. An accurate diagnosis is essential for effective management.

Case Reports: We present three infants from unrelated families, one with infantile and two with neonatal hyperammonemic encephalopathy, hypoglycaemia, and hyperlactatemia.

A Phase III open-label, randomized, active controlled clinical study to assess safety, immunogenicity and lot-to-lot consistency of a bovine-human reassortant pentavalent rotavirus vaccine in Indian infants.

Background: A heat-stable bovine-human rotavirus reassortant pentavalent vaccine (BRV-PV, ROTASIIL®) was developed in India. In this study, the vaccine was tested for safety, immunogenicity and clinical lot-to-lot consistency.

Methods: This was a Phase III, open label, randomized, equivalence design study.

Non-interference of Bovine-Human reassortant pentavalent rotavirus vaccine ROTASIIL® with the immunogenicity of infant vaccines in comparison with a licensed rotavirus vaccine.

Background: A newly developed bovine-human reassortant pentavalent vaccine (BRV-PV, ROTASIIL®) was tested for its potential effect on the immunogenicity of concomitantly administered EPI vaccines in infants in a randomized controlled study in India.

Methods: In this Phase III, multicenter, open label, randomized, controlled study, three doses of BRV-PV or two doses of Rotarix® and one dose of placebo were given to healthy infants at 6, 10, and 14 weeks of age. Subjects also received three doses of DTwP-HepB-Hib (diphtheria, tetanus, whole-cell pertussis, hepatitis B, and haemophilus influenzae type b conjugate - pentavalent vaccine) and oral polio vaccine concomitantly at 6, 10, and 14 weeks of age and a single dose of inactivated polio vaccine at 14 weeks of age.

A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report.

Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence of AIP being 5 in 1,00,000. We present a case of an 11-year-old male child with multiple cranial nerve involvement, quadriparesis, focal convulsions, hypertension, hyponatremia with history of recurrent abdominal pain.

Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner's syndrome.

We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side.

Tricin 4'-O-(erythro-β-guaiacylglyceryl) ether and tricin 4'-O-(threo-β-guaiacylglyceryl) ether isolated from Njavara (Oryza sativa L. var. Njavara), induce apoptosis in multiple tumor cells by mitochondrial pathway.

Njavara is an important medicinal rice variety of Kerala, India widely used in Ayurveda for the treatment of rheumatoid arthritis, paralysis, neurodegenerative diseases and in rejuvenation therapy. The study evaluated, for the first time, antitumor effects of the two rare flavonolignans, tricin 4'-O-(erythro-β-guaiacylglyceryl) ether (compound 1) and tricin 4'-O-(threo-β-guaiacylglyceryl) ether (compound 2), isolated from 'Njavara' black. Both the compounds induced apoptosis in three cancer cell lines colon adenocarcinoma cell line HCT 116, ovarian cancer cell line SKOV3 and breast cancer cell line MCF-7.

Molecular mechanisms of anti-inflammatory action of the flavonoid, tricin from Njavara rice (Oryza sativa L.) in human peripheral blood mononuclear cells: possible role in the inflammatory signaling.

Flavonoids are a group of natural substances that are located in sources of vegetal origin and are able to regulate acute and chronic inflammatory responses. The anti-oxidant and anti-inflammatory effects corroborate with the preferential use of Njavara, a rice variety in indigenous medicine and the phytochemical investigations revealed the occurrence of a flavonoid, tricin at significantly higher levels compared to staple varieties. This study describes the new aspects of inflammatory suppression by the Njavara rice by evaluating the role of active constituent, tricin in the regulation of production of various pro-inflammatory markers by human peripheral blood mononuclear cells stimulated with lipopolysaccharide.

DPPH radical scavenging activity of tricin and its conjugates isolated from "Njavara" rice bran: a density functional theory study.

Structural, electronic, and energetic characteristics of tricin, tricin-4'-O-(erythro-β-guaiacylglyceryl)ether (TEGE), and tricin-4'-O-(threo-β-guaiacylglyceryl)ether (TTGE), isolated from "Njavara" rice bran have been studied using DFT to explain their experimentally determined radical scavenging activity (EC(50) values) in comparison with known standards such as quercetin, myricetin, and catechin. Among the three mechanisms proposed for explaining the antioxidant activity, proton coupled-electron transfer (PC-ET), sequential proton loss electron transfer (SPLET), and electron transfer-proton transfer (ET-PT), our results support the second one. The O-H bond dissociation enthalpy (BDE) and the spin density on the oxygen with the radical character are excellent descriptors of radical scavenging activity.

Isolation, characterization and quantification of tricin and flavonolignans in the medicinal rice Njavara (Oryza sativa L.), as compared to staple varieties.

Njavara is an important medicinal rice variety of Kerala, India, widely used in Ayurveda as a 'health food' and in the treatment of rheumatoid arthritis, paralysis, neurodegenerative diseases and in rejuvenation therapy. Phytochemical investigations and spectroscopic studies of the diethyl ether fraction of methanolic extract of Njavara Black (NB) rice bran gave three important compounds namely, tricin and two rare flavonolignans- tricin 4'-O-(erythro-β-guaiacylglyceryl) ether and tricin 4'-O-(threo-β-guaiacylglyceryl) ether. The EC(50) values of these compounds in DPPH system were 90.

Iodine assisted modified Suzuki type reaction of bicyclic hydrazines: stereoselective synthesis of functionalized cyclopentenes.

Bicyclic hydrazines undergo a facile palladium/iodine mediated stereoselective ring opening on reaction with organoboronic acids affording trans-3,4-disubstituted hydrazino cyclopentenes in good to excellent yield.

X-ray structure of barium titanate - missed opportunities.

Anomalous X-ray scattering effects are quite extensive in the noncentrosymmetric ferroelectric structure of barium titanate, and typical estimates for three published X-ray diffraction experiments are computed. These data show that the Bijvoet pairs should not be averaged before least-squares refinement for this polar crystal with small atomic displacements from a higher symmetric space group.