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Enzyme Replacement Therapy (ERT) is a therapeutic approach used to treat various lysosomal storage disorders and other conditions caused by enzyme deficiencies. The primary goal of ERT is to supplement or replace the deficient enzyme in order to reduce the accumulation of substrates that cause cellular damage. Key Points on Enzyme Replacement Therapy ERT:
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Pathophysiology of HMD Hyaline Membrane Disease(HMD) arises due to a deficiency in pulmonary surfactant production, which leads to increased surface tension in the alveoli. The key steps in its pathophysiology include: Strategies to Prevent HMD Antenatal Strategies: Postnatal Strategies: References:
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Surfactant is a lipoprotein substance critical for reducing surface tension in the alveoli, preventing their collapse during expiration, and ensuring effective gas exchange. Uses of Surfactant in Newborns Exogenous surfactant therapy is a cornerstone in managing neonatal respiratory disorders.
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Apnea of Prematurity (AOP) is a common condition in preterm neonates characterized by the cessation of breathing for at least 20 seconds, often accompanied by bradycardia and/or desaturation. This is most common in neonates born at <34 weeks of gestation, as their respiratory control system is immature. Below is a detailed explanation and classification of
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Encopresis in Children Definition Encopresis, also known as functional fecal incontinence, is the repetitive passage of stools in inappropriate places. This can be voluntary or involuntary. It occurs in children 4 years and older who have already acquired toilet training. Etiology Clinical Features Diagnosis Treatment Conclusion Early diagnosis and treatment of encopresis can prevent long-term
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Understanding Sydenham Chorea (St. Vitus Dance) Sydenham chorea, also known as St. Vitus dance, is the most common acquired chorea of childhood, occurring in 10-20% of children who have had acute rheumatic fever. This condition usually manifests weeks to months after an infection with group A β-hemolytic streptococci, with a peak incidence at ages 8-9
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Cradle cap What is cradle cap?Cradle cap, also known as infantile seborrheic dermatitis, is a common skin condition that affects newborns and young infants. It is characterized by greasy, yellowish or brownish patches on the baby’s scalp. While it is not harmful and usually resolves on its own, it can be concerning for parents due
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Copper Overload: Understanding Wilson Disease and Its Impact on Health” When to suspect?Female > male Children/teenagers with unexplained acute or chronic liver disease with/without neurologic symptoms of unkown cause , acute hemolysis (coombs negative)’ Psychiatric illness, behavioral changes, Fanconi syndrome or unexplained bone or muscle disease Investigation for wilson disease 1-Decreased Serum ceruloplasmin (<20mg/dl) High:acute
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Impetigo Overview Etiology and PathogenesisImpetigo, the most common skin infection in children worldwide, presents in two forms: nonbullous and bullous. – Nonbullous Impetigo: Predominantly caused by *Staphylococcus aureus* though group A β-hemolytic streptococci (GABHS) can also be involved. Staphylococci usually spread from the nose to the skin, while GABHS colonize the skin about 10 days
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Case discussion : Concept of delta bilirubin in prolonged acute hepatitis With conservative treatment, children become clinically better and asymptomatic but we were worried about increasing serum bilirubin. Answer for this: In the late stages of hepatocellular or cholestatic jaundice, even when serum-conjugated bilirubin is very high, it can’t be detected in urine. This is
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