- Lowe Syndrome.

Lowe Syndrome

Lowe syndrome (oculocerebrorenal syndrome of Lowe) is a rare X-linked disorder characterized by:

-       congenital cataracts , glaucoma and blindness often develop.

-       mental retardation, hypotonia and hyporeflexia,

-       The renal abnormalities are tubular and include: hypophosphatemic rickets with ↓ serum phosphorus levels, low to normal serum calcium Levels,↑ serum alkaline phosphatase levels,pRTA, and aminoaciduria.

-  Significant proteinuria is common.

-  The disease is caused by mutations in the OCRL1 gene, which codes for a Golgi aparatus phosphatase.

-  There is no specific therapy for the renal disease or neurologic deficits.

-  Renal treatment may include alkali therapy, phosphate replacement, and vitamin D support.

-  Cataract removal is generally required.

-  Genetic counselling.

Death occur during childhood.

- Indication of urine culture in UTI in Paediatric.

 Indication of urine culture in cases of UTI in Paediatric.

 

Urine samples should be sent for culture in:

1. having a diagnosis of acute pyelonephritis/upper urinary tract infection
2. high to intermediate risk of serious illness
3. < 3 years.
4. single positive result for leukocyte esterase or nitrite
5. Recurrent UTI.
6. Infection that does not respond to treatment within 24–48 hours, if no sample has already been sent.
7. when clinical symptoms and dipstick tests do not correlate.

- Risk factors for UTI in Children.

Risk factors for UTI (urinary tract infection) in Children.

1.  Uncircumcised male have 10 times > circumcised males . 
2. Abnormal urinary tract: Children with vesicoureteral reflux (VUR) and obstruction are at higher risk for UTI. 
3. Any condition that interferes with complete emptying of the bladder increasing the risk of bacterial colonization, such as Voiding dysfunction ,constipation,neurogenic bladder,VUR. 
4. Poor perineal hygiene. 
5. Wiping from back to front in girls 
6. Bubble bath? and Tight clothing (underwear).
7. Pinworm infestation.
8. Requiring frequent catheterization.
9. Sexual activity.

- Risk Factors for Recurrence of Febrile Seizures.

Risk Factors for Recurrence of Febrile Seizures

MAJOR Risk Factors:

• Age <1 yr
• Duration of fever <24 hr
• Fever 38-39°C (100.4-102.2°F)

MINOR Risk Factors:

• Family history of febrile seizures
• Family history of epilepsy
• Complex febrile seizure
• Daycare
• Male gender
• Lower serum sodium at time of presentation

- Having no risk factors carries a recurrence risk of approximately 12%;
- Having 1 risk factor carries a recurrence risk of approximately 25-50%;
- Having 2 risk factors carries a recurrence risk of approximately, 50-59%;
- Having 3 or  more risk factors carries a recurrence risk of approximately, 73-100%.

Ref: Mohamad A. Mikati and Abeer J. Hani,Febrile seizure,NELSON TEXTBOOK OF PEDIATRICS, 20th ed 2016

- Bartter syndrome.

 Bartter syndrome

The pathogenesis:

Failure of chloride reabsorption in the thick ascending limb of the loop of Henlé,thus resembling the pharmacological effect of furosemide (frusemide)

Bartter syndrome has been associated with 5 distinct genetic defects in loop of Henle transporters:

CCD, cortisol collecting duct; DCT, descending convoluted tubule; PGE2, prostaglandin E2; TAL, thick ascending loop of Henle.

- Storage Guidelines for breast milk.

Storage Guidelines for breast milk.

ü  Choice of containers

·      Glass is usually considered the best choice for freezing milk because the components of milk are better preserved in glass.

·      Second choice would be hard, clear plastic containers.

- Human Potential trapped in the inter-generational cycle of malnutrition.

Human Potential trapped in the inter-generational cycle of malnutrition.

The green pathway denotes the period between conception and 2 years (‘the first 1000 days’) when growth failure and probably all associated pathology are most responsive to, or preventable by, interventions.