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Questions and Answers
What is the method used for prenatal diagnosis of Down syndrome in the first trimester?
What is the method used for prenatal diagnosis of Down syndrome in the first trimester?
What are the daily carbohydrate requirements for a two-month-old infant?
What are the daily carbohydrate requirements for a two-month-old infant?
Which of the following hereditary disorders exemplifies an autosomal recessive mode of inheritance?
Which of the following hereditary disorders exemplifies an autosomal recessive mode of inheritance?
Significant bacteriuria is indicated in a clean catch urine sample by which level of bacterial growth?
Significant bacteriuria is indicated in a clean catch urine sample by which level of bacterial growth?
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Which feature is associated with atypical nephrotic syndrome in a child?
Which feature is associated with atypical nephrotic syndrome in a child?
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Which statement best describes variable expressivity?
Which statement best describes variable expressivity?
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In classic phenylketonuria, which enzyme is primarily defective?
In classic phenylketonuria, which enzyme is primarily defective?
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What percentage of birth defects is attributed to teratogens?
What percentage of birth defects is attributed to teratogens?
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Which teratogenic effect is associated with valproate use during pregnancy?
Which teratogenic effect is associated with valproate use during pregnancy?
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What is a constant diagnostic feature of kwashiorkor?
What is a constant diagnostic feature of kwashiorkor?
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What are the daily protein requirements for a 9-year-old child?
What are the daily protein requirements for a 9-year-old child?
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Which of the following hereditary disorders exemplifies an autosomal dominant inheritance pattern?
Which of the following hereditary disorders exemplifies an autosomal dominant inheritance pattern?
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Which situation is an indication for genetic counselling?
Which situation is an indication for genetic counselling?
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What is the age range to consider a diagnosis of congenital nephrotic syndrome?
What is the age range to consider a diagnosis of congenital nephrotic syndrome?
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Which feature is commonly associated with congenital toxoplasmosis?
Which feature is commonly associated with congenital toxoplasmosis?
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Which serotypes of group A beta-hemolytic streptococci is most commonly linked to acute post streptococcal glomerulonephritis?
Which serotypes of group A beta-hemolytic streptococci is most commonly linked to acute post streptococcal glomerulonephritis?
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What is the normal subcutaneous skin fold thickness at birth?
What is the normal subcutaneous skin fold thickness at birth?
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What is the most common endocrinal abnormality observed in individuals with Down syndrome?
What is the most common endocrinal abnormality observed in individuals with Down syndrome?
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What is the appropriate timing for obtaining a blood sample for phenylketonuria (PKU) screening?
What is the appropriate timing for obtaining a blood sample for phenylketonuria (PKU) screening?
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Which of the following is a teratogenic effect of tetracycline?
Which of the following is a teratogenic effect of tetracycline?
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Causes of elevated maternal alpha-fetoprotein include which of the following?
Causes of elevated maternal alpha-fetoprotein include which of the following?
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What is the most common histopathologic finding in primary nephrotic syndrome in children?
What is the most common histopathologic finding in primary nephrotic syndrome in children?
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At what age should vitamin D supplementation start for a breastfed infant?
At what age should vitamin D supplementation start for a breastfed infant?
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Which teratogenic effect is associated with warfarin?
Which teratogenic effect is associated with warfarin?
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What is the correct iron supplementation regimen for a full-term exclusively breastfed baby?
What is the correct iron supplementation regimen for a full-term exclusively breastfed baby?
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In which condition is suppressive antibiotic therapy indicated to prevent urinary tract infection?
In which condition is suppressive antibiotic therapy indicated to prevent urinary tract infection?
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What is the definition of third-degree marasmus?
What is the definition of third-degree marasmus?
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Which statement is characteristic of typical acute post-streptococcal glomerulonephritis?
Which statement is characteristic of typical acute post-streptococcal glomerulonephritis?
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Which is an absolute indication for renal biopsy in childhood nephrotic syndrome?
Which is an absolute indication for renal biopsy in childhood nephrotic syndrome?
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What is the most common congenital heart defect associated with Down syndrome?
What is the most common congenital heart defect associated with Down syndrome?
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In which deficiency is Marasmus primarily characterized?
In which deficiency is Marasmus primarily characterized?
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What are the daily water requirements for a 2-year-old child?
What are the daily water requirements for a 2-year-old child?
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What is the most common causative organism of infections complicating nephrotic syndrome?
What is the most common causative organism of infections complicating nephrotic syndrome?
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What urinary protein to creatinine ratio defines nephrotic range proteinuria?
What urinary protein to creatinine ratio defines nephrotic range proteinuria?
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What is the most likely cause of hair changes in a case of Kwashiorkor?
What is the most likely cause of hair changes in a case of Kwashiorkor?
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Which approach is correct regarding the nutritional management of protein energy malnutrition?
Which approach is correct regarding the nutritional management of protein energy malnutrition?
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Which condition is characteristic of congenital cytomegalovirus infection?
Which condition is characteristic of congenital cytomegalovirus infection?
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What is considered significant bacteriuria in a clean catch urine sample?
What is considered significant bacteriuria in a clean catch urine sample?
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What is the prophylactic dose of vitamin D recommended for full term babies?
What is the prophylactic dose of vitamin D recommended for full term babies?
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Which of the following is a common feature of atypical nephrotic syndrome?
Which of the following is a common feature of atypical nephrotic syndrome?
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What is the daily carbohydrate requirement for a two-month-old infant?
What is the daily carbohydrate requirement for a two-month-old infant?
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Which hereditary disorder is an example of autosomal recessive inheritance?
Which hereditary disorder is an example of autosomal recessive inheritance?
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In the context of pediatric RIFLE criteria for acute kidney injury, which GFR decrease constitutes the 'risk stage'?
In the context of pediatric RIFLE criteria for acute kidney injury, which GFR decrease constitutes the 'risk stage'?
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Which method is used for newborn screening in Egypt?
Which method is used for newborn screening in Egypt?
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Which finding indicates the presence of mild renal function impairment in pediatric nephrotic syndrome?
Which finding indicates the presence of mild renal function impairment in pediatric nephrotic syndrome?
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Study Notes
Variable Expressivity
- A single gene can lead to different symptoms in individuals, even within the same family.
- The degree of symptom severity can vary widely.
Phenylketonuria
- Phenylalanine hydroxylase enzyme deficiency causes phenylketonuria.
Teratogens
- Teratogens contribute to approximately 10-25% of birth defects.
- Valproate (anti-epileptic drug) can cause neural tube defects.
Kwashiorkor
- Kwashiorkor is a severe form of malnutrition.
- Edema is always present in kwashiorkor.
Daily Protein Requirements
- Children aged 9 years require 2.5 gm/kg/day of protein.
Autosomal Dominant Inheritance
- Achondroplasia is an example of autosomal dominant inheritance.
Genetic Counseling Indications
- Children with mental retardation require genetic counseling.
Urinary Tract Infections in Children
- E. coli is the most common cause of urinary tract infections in children.
Congenital Nephrotic Syndrome
- Diagnosis of congenital nephrotic syndrome is typically made in infants less than 3 months old.
Congenital Toxoplasmosis
- Intracranial calcifications are a feature of congenital toxoplasmosis.
Acute Post-Streptococcal Glomerulonephritis
- Serotype M12 of group A beta-hemolytic streptococci is associated with acute post-streptococcal glomerulonephritis.
Elevated Maternal Alpha-Fetoprotein
- Anencephaly, a neural tube defect, can cause elevated maternal alpha-fetoprotein levels.
Phenylketonuria Screening
- Newborn screening for phenylketonuria should be performed 3-7 days after birth.
Down Syndrome
- The most common endocrine abnormality in Down syndrome is hypothyroidism.
Congenital Rubella Syndrome
- Corneal opacities are a characteristic feature of congenital rubella syndrome.
Subcutaneous Skin Fold Thickness at Birth
- Normal subcutaneous skin fold thickness at birth is 5 mm.
Teratogenic Effect of Tetracycline
- Tetracycline can cause teeth enamel dysplasia.
Primary Nephrotic Syndrome
- The most common histological finding in primary nephrotic syndrome in children is minimal change disease.
Vitamin D Supplementation
- Full-term breastfed infants should receive vitamin D supplementation of 400 IU/day starting at birth.
Teratogenic Effect of Warfarin
- Warfarin can cause stippling of the epiphysis of the lumbosacral area.
Iron Supplementation in Breastfed Infants
- Iron supplementation of 1 mg/kg/day should start at 4-6 months of age in exclusively breastfed infants.
Acute Post-Streptococcal Glomerulonephritis
- Microscopic hematuria can persist for up to two years in patients with acute post-streptococcal glomerulonephritis.
Common Congenital Heart Defect in Down Syndrome
- The most common congenital heart defect in Down syndrome is atrioventricular septal defect (AVSD).
Marasmus
- Marasmus is a condition characterized by severe caloric deficiency.
Nephrotic Range Proteinuria
- Nephrotic range proteinuria is defined by a urinary protein to creatinine ratio of ≥3.
Down Syndrome
- Down Syndrome is a chromosomal disorder caused by trisomy 21.
Prenatal Diagnosis of Down Syndrome in the First Trimester
- Chorionic villus sampling is used for prenatal diagnosis of Down syndrome in the first trimester.
Daily Carbohydrate Requirements
- Infants aged 2 months require 10 gm/kg/day of carbohydrates.
Autosomal Recessive Inheritance
- Beta thalassemia inherits in an autosomal recessive pattern.
Significant Bacteriuria
- A clean-catch urine sample with growth of ≥100,000 colony-forming units (CFU)/mL of a single uropathogenic bacterium indicates significant bacteriuria.
Atypical Nephrotic Syndrome
- Gross hematuria is a feature of atypical nephrotic syndrome.
Pediatric RIFLE Criteria
- A 25% decrease in glomerular filtration rate (GFR) classifies as a "risk" stage according to the RIFLE criteria for acute kidney injury in children.
Prophylactic Vitamin D Dose
- The prophylactic dose of vitamin D for full-term babies is 400 IU/day.
Newborn Screening in Egypt
- Newborn screening in Egypt is performed using a heel prick test.
Suppressive Antibiotic Therapy for Urinary Tract Infections
- Children with vesicoureteric reflux benefit from suppressive antibiotic therapy to prevent urinary tract infections.
Third-Degree Marasmus
- Third-degree marasmus is characterized by 50% or more loss of weight.
Renal Biopsy in Childhood Nephrotic Syndrome
- Low C3 concentrations are an absolute indication for renal biopsy in childhood nephrotic syndrome.
Daily Water Requirements
- Children aged 2 years require 100 ml/kg/day of water.
Infections Complicating Nephrotic Syndrome
- Staphylococcus aureus is the most common causative organism of infections in nephrotic syndrome.
Kwashiorkor Hair Changes
- Deficiency of sulfur-containing amino acids is the most likely cause of hair changes in kwashiorkor.
Nutritional Management of Protein-Energy Malnutrition
- Initial resuscitation with gradual nutritional rehabilitation is the best approach to manage protein-energy malnutrition.
Congenital Cytomegalovirus Infection
- Periventricular cerebral calcifications are a characteristic feature of congenital cytomegalovirus infection.
Caloric Requirement in Preterm Newborns
- Caloric requirements vary depending on gestational age and birth weight.
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Description
Explore the intricate relationship between genetics and health in this quiz. Topics include variable expressivity, genetic disorders, nutritional deficiencies, and the impact of teratogens. Test your knowledge on genetic counseling and protein requirements for children.
