Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature.

Objective: Majeed syndrome (MJS) is an autosomal recessive, systemic autoinflammatory disease (SAID) caused by biallelic loss-of-function variants in the gene. It is characterized by early-onset chronic recurrent multifocal osteomyelitis (CRMO), dyserythropoietic anemia, and neutrophilic dermatosis. We analyzed a cohort of uncharacterized Indian patients for pathogenic variants in and other genes associated with SAIDs.

Specialised training in paediatric anaesthesia: Need of the hour.

Paediatric anaesthesia is an upcoming speciality which is gaining wide interest and can be a career choice for the new trainees. The need to develop paediatric anaesthesia as a speciality was realised with the progress in the field of paediatric surgery. The profile of the 'patient' encountered by a paediatric anaesthesiologist spans from an extremely premature neonate on the fringes of survival, to a full-grown adolescent equivalent to an adult.

Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.

Background: Bi-allelic mutations in FAM20C gene are known to cause a rare genetic disorder- Raine syndrome (RS). The FAM20C protein binds calcium and phosphorylates proteins involved in biomineralization of bones and teeth. RS is recognized as an osteosclerotic bone dysplasia.

Chondral Shear Fracture of the Capitellum in Adolescents-A Report of Two Late Diagnosed Cases and a Review of Literature.

The chondral shear fracture is a rare sub-type of pediatric capitellum fractures, in which the fractured fragment is almost entirely cartilaginous. Since the fractured fragment is not visible on plain radiographs, these injuries are often missed on initial presentation resulting in delayed diagnosis and poor outcomes. To our knowledge, only eight such cases have been reported in the past.

The troublesome triumvirate: Temporomandibular joint ankylosis, Pierre Robin syndrome and severe obstructive sleep apnoea.

Managing the paediatric airway with a multitude of issues, poses a unique anaesthetic challenge. Thorough understanding of implications of the associated co-morbidities, meticulous planning to counter the anticipated difficulties with back-up plans and optimal utilisation of modern anaesthesia techniques are the cornerstones in ensuring success in such tricky situations.

Challenges and Opportunities Facing Pediatric Anesthesia Providers in Low- and Middle-Income Countries (LMICs), India.

India is a vast, populous country with a huge variability in the standards of health care. While the cities have state of the art hospitals with trained doctors, rural areas where most of the population lives, have a severe shortage of resources. Children form nearly 40% of India's population, and there is a great demand for pediatric surgical and anesthesia services.

Bacillus Clausii Septicemia in a Pediatric Patient After Treatment With Probiotics.

Isolated cases of septicemia associated with probiotics have been reported. We describe Bacillus clausii septicemia in a 4-month-old male infant with congenital heart disease following treatment for diarrhea with a probiotic containing B. clausii spores.