Precision therapy for Developmental delay, Epilepsy and Neonatal Diabetes syndrome in the era of genomics.

Neonatal diabetes mellitus is a rare disorder with prevalence of one in 400,000 live births that's defined by persistent hyperglycaemia within the first six months of life. Neonatal diabetes is heterogeneous and can be transient or permanent. Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is characterised by developmental delay, epilepsy, and neonatal diabetes.

Enzyme immobilization with nanomaterials for hydrolysis of lignocellulosic biomass: Challenges and future Perspectives.

Enzyme immobilization has emerged as a prodigious strategy in the enzymatic hydrolysis of lignocellulosic biomass (LCB) promising enhanced efficacy and stability of the enzymes. Further, enzyme immobilization on magnetic nanoparticles (MNPs) facilitates the easy recovery and reuse of biocatalysts. This results in the development of a nanobiocatalytic system, that serves as an eco-friendly and inexpensive LCB deconstruction approach.

Evolution in the asymmetric synthesis of biaryl ethers and related atropisomers.

Axially chiral biaryl ethers and related compounds hold valuable potential in natural products, medicinal chemistry, and catalysis; however, their asymmetric syntheses have always been overlooked compared to other biaryl/hetero-biaryl atropisomers. Unlike the later class molecules bearing a single chiral axis, the former category possesses a unique type of atropisomerism bearing two potential axes. Due to their great importance in diverse research domains, catalytic atropselective biaryl ether synthesis has recently witnessed an upsurge.

Removal of Six Esophageal Metals in a Four-Month-Old Infant: A Rare Case.

This case report details the distinctive and demanding clinical situation involving a four-month-old female neonate. Her chief complaint was a two-day refusal to consume food orally, accompanied by episodes of vomiting following feedings and a sensation of choking in the throat. The referring physician suspected the presence of a foreign body in the patient's esophagus and advised a chest X-ray following a thorough examination.

Accessing Pyridines via a Nitrene Internalization Process.

Pyridines are valuable pharmacophores, and their access via direct and selective transmutation of carbon atom with desired nitrogen could become crucial in drug discovery processes. However, only scarce examples can be found when it comes C-to-N-transmutation reactions of aromatics that could lead to the facile synthesis of pyridines or other azaarenes. In this context, Levin and co-workers recently disclosed a process leading to pyridines from the corresponding aryl azides via the regioselective nitrene internalization process.

Transplant endocrinology.

Solid organ transplants and stem cell transplants are becoming more common but a significant proportion of patients are still on waiting lists, awaiting transplants. When endocrinologists treat transplant recipients who have underlying endocrine problems, which might include endocrine emergencies, there are special clinical care considerations to be aware of. The stage of the transplant (pre-transplant, early post-transplant, and chronic post-transplant) must be taken into account.

Asymptomatic Esophageal Eosinophilia in an 11-Year-Old with Severe Persistent Asthma.

Asymptomatic esophageal eosinophilia (aEE) is a rare presentation, where patients have increased eosinophils in esophageal mucosa but lack any esophagus-related symptoms. Cases of aEE have only been documented in adults, and little is known about its clinical significance and whether treatment is warranted. We report a case of an 11-year-old patient with uncontrolled severe persistent asthma who underwent flexible bronchoscopy and upper endoscopy as a part of complete aerodigestive evaluation.

Organocatalytic Asymmetric Synthesis of Carbo- and Oxacyclic Seven-Membered Bridged Biaryls via Nucleophile-Dependent Switchable Domino Processes.

We disclose herein a highly diastereo- and enantioselective divergent synthesis of seven-membered biaryl-bridged carbo- and oxacyclic frameworks by utilizing the catalytic ability of bifunctional hydrogen-bonding squaramide organocatalysts. Starting with the same biaryl substrate bearing two distinct acceptor sites and by choosing soft or hard nucleophiles, we readily accessed the dibenzocycloheptanes or 5,7-dihydrodibenzo[]oxepines bearing multiple elements of chirality via a domino 1,4/1,2-addition or 1,2/oxa-Michael addition sequence, respectively.

Millets (Shrianna) and lifestyle diseases: A healing touch.

Traditionally, millets were the earliest food to be domesticated by human beings and it constituted the staple food for various civilisations across Asia and Africa. Somehow, during the course of modernization, the production and consumption of millets has declined significantly. Government of India has taken a lead role and has launched widescale strategies to promote millets in order to make India a global hub for millets.

Electro-Oxidative Synthesis of Phenazines.

We disclose herein electro-oxidative synthesis as the general protocol for procuring phenazines under mild reaction conditions. Using aerial oxygen as an oxidant, inexpensive electrolyte, and electrodes, a diverse range of phenazines have been accessed in good yields via the ring contraction of 10,11-dihydro-5-dibenzo[][1,4]diazepines. In addition, the syntheses of phenazines and diamino phenazines via direct electro-oxidation of dihydrophenazines and electro-dimerization of -phenylenediamines, respectively, have also been accomplished.

Seizure-Induced Hemoptysis in a Pediatric Patient.

Hemoptysis can complicate seizures, albeit rarely. This unfamiliar presentation, reported infrequently in adults, can also affect children. This remains a rare clinical entity in pediatrics and we report one such case and its association with sterol carrier protein (SCP) gene mutation.

Catalytic asymmetric synthesis of medium-sized bridged biaryls.

Despite the persistent presence of medium-sized (seven- to nine-membered) scaffolds in natural products and biologically active molecules, their asymmetric syntheses have always been considered a formidable task; therefore, they have remained underdeveloped when compared to the enantioselective synthesis of five- and six-membered ring scaffolds. One important class of such medium-sized ring frameworks includes seven- to nine-membered biaryl bridged carbo- and heterocycles. These medium-ring-sized biaryl frameworks possess more configurational stability than the related smaller ring structures and are common features of valuable natural products, bioactive compounds, chiral catalysts, and molecular motors.

An Approach to the Management of Diabetes Mellitus in Cirrhosis: A Primer for the Hepatologist.

The management of diabetes in cirrhosis and liver transplantation can be challenging. There is difficulty in diagnosis and monitoring of diabetes as fasting blood sugar values are low and glycosylated hemoglobin may not be a reliable marker. The challenges in the management of diabetes in cirrhosis include the likelihood of cognitive impairment, risk of hypoglycemia, altered drug metabolism, frequent renal dysfunction, risk of lactic acidosis, and associated malnutrition and sarcopenia.

Stereoselective Oxidative Mannich Reaction of Ketones with Dihydrodibenzo-Oxazepines via a Merger of Photoredox-/Electro-Catalysis with Organocatalysis.

An enantio- and diastereoselective sp -sp coupling of acyclic/cyclic ketones with dihydrodibenzo-oxazepines has been developed by merging visible light photo-redox- or electro-catalysis with organocatalysis. This approach parallelly utilizes Eosin Y or graphite electrodes for the co-catalyst-free oxidative conversion of dihydrodibenzo-oxazepines to oxazepines, followed by L-Proline catalyzed direct Mannich-type reaction with ketones. A series of enantioenriched dihydrodibenzo-oxazepines have been prepared in high yields and enantioselectivity.

Spirometric Changes After Initiation of Hydroxyurea in Children With Sickle Cell Anemia.

Individuals with sickle cell disease (SCD) develop a decline in lung function over time. Hydroxyurea (HU) is the most common disease-modifying therapy used in SCD. We hypothesized that children with SCD treated with HU will have a slower decline in pulmonary function.

A pilot study comparing hearing thresholds of soldiers at induction and after completion of one year in high altitude area.

Background: Despite so much research in high altitude area, our existing knowledge is still lacking on otological effects of long-term stay in high altitude. This pilot study was conducted to compare the hearing thresholds of army soldiers at induction and after completion of one year in high altitude area (HAA).

Methods: Hearing thresholds of 433 soldiers posted in HAA were recorded using pure tone audiometry at the time of induction and second thresholds after one year of stay in high altitude for frequencies of 500Hz, 1KHzs, 2 KHzs and 4 KHzs.

The Indian Society for Bone and Mineral Research (ISBMR) position statement for the diagnosis and treatment of osteoporosis in adults.

Unlabelled: The Indian Society for Bone and Mineral Research (ISBMR) has herein drafted clinical practice guidelines for the diagnosis and management of osteoporosis for the people of India. Implementation of the position statement in clinical practice is expected to improve the overall care of patients with osteoporosis in India.

Purpose: In India, osteoporosis is a major public health problem.

Thyrotoxic periodic paralysis: A retrospective, observational study from India.

Background & Objectives: Thyrotoxic periodic paralysis (TPP) is an endocrine emergency presenting with acute-onset flaccid paralysis in a patient having thyrotoxicosis accompanied by hypokalaemia. This study was conducted to evaluate the clinical profile of patients with TPP presenting to three centres in India.

Methods: This retrospective, observational study was conducted at three tertiary care Armed Forces medical centres, located at Lucknow, Kolkata and Delhi.

Peak Cough Flow in Children with Neuromuscular Disorders.

Purpose: Patients with neuromuscular disease (NMD) experience weakened cough due to progressive respiratory muscle weakness. Peak cough flow (PCF) measurements derived from adult populations are used to recommend initiation of assisted cough therapies. The objective of this study was to characterize PCF values among pediatric patients with NMD.