Diseases in Neonates requiring Special Care MCQs

Option A & Option B: Translation is synthesis of protein from mRNA. Mutation in promoter regions does not lead to any problem during translation or post translational modifications. A deficiency of dystrophin mRNA will result in a deficiency in the production of the dystrophin protein. Option C: Mutations in the promoter typically prevent formation of the RNA polymerase II transcription complex, resulting in a decrease in the initiation of mRNA synthesis during transcription. Option D: Post transcriptional modifications like capping, splicing and tailing defects are not a consequence of promoter mutations. Reference: Harper’s illustrated biochemistry 32 nd edition CH 36 PN 379

Any arthritis that occurs in individuals Oligoarticular Polyarticular Rheumatoid factor positive Polyarticular Rheumatoid factor negative Systemic onset Psoriatic arthritis and Enthesitis related arthritis. Systemic onset JIA. It is characterised by Fever Evanescent rash Hepatosplenomegaly Generalized Lymphadenopathy Serositis They are prone for developing a life-threatening complication called Macrophage Activation Syndrome. They will be negative for ANA and RA factor. There will be anemia, raised ESR and CRP with transaminase elevation. Ferritin may be elevated and coagulation screen may be abnormal. Reference : Harrison's Principles of Internal Medicine, 21 st ed, Ch:58, Pg: 394

Ductus dependent congenital heart disease (require a patent ductus for maintaining pulmonary / systemic circulation) - Transposition of Great arteries - Tetralogy of Fallot - Tricuspid atresia (Ebstein anomaly) - Coarctation of aorta - Hypoplastic left heart syndrome - Pulmonary stenosis PGE1 is used to maintain an open ductus arteriosus in neonates with heart lesions that depend on it for survival. In Gerbode defect, there is a direct communication between right atrium and left ventricle. Reference : Harrison's Principles of Internal Medicine 21 st edition Page 2011-12

Severe combined immunodeficiency represents a group of genetic primary immunodeficiencies defined by dysfunction of humoral and cell mediated immunity. The definitive test for quantifying lymphocyte subsets is flow cytometry. Left untreated, children with severe combined immunodeficiency die early in life owing to infection, but the condition is curable with allogeneic hematopoietic stem cell transplant. Tags : Topic : IMMUNE DISORDERS Difficulty level : GOOD TO KNOW Reference : Nelson textbook of pediatrics, 1 st SA ed., pg. 1004

Spleen takes care of infections caused by encapsulated bacteria. Hence, before splenectomy we must vaccinate the child against these capsulated organisms i.e., Pneumococcus, Meningococcus and H. Influenzae. Reference: Nelson textbook of Pediatrics, 20 th ed., pg. 2352

There is absolutely no indication in the stem indicating of neurological deficit to order CT scan or MRI. Moreover, there are no signs of intracranial haemorrhage. Swelling and tenderness over left maxilla could represent a maxillary fracture. Tags: Topic: TRAUMA Difficulty level: MUST KNOW Reference: Manual of paediatric emergencies & critical care, 2 nd ed., pg. 254

Explanation: Among the given options, babies on artificial feeding and those with a working mother or single parent fall under the "at-risk" category. These infants are more vulnerable to malnutrition, infection, and inadequate care, requiring closer monitoring. Criteria for At-Risk Infants: Low birth weight ( Twins Higher birth order (≥5). Artificial feeding. Weight Failure to gain weight for 3 consecutive months. Children with PEM or recurrent diarrhea. Babies of working mothers or single parents. These risk factors are used to identify infants who need special attention to reduce morbidity and mortality. Key Takeaways: At-risk infants include those with low birth weight, artificial feeding, PEM, frequent diarrhea, high birth order, and social risk factors . Early identification allows for targeted interventions to reduce neonatal and infant mortality.

All primitive reflexes are present at birth in a term neonate except Symmetric tonic neck reflex Parachute reflex Landau reflex Reference: Nelson 21 st Edition, Chapter 608