[PTH-LEC]-3.03-Diseases of Infancy _ Childhood-Aguirre-v1

What is the definition of congenital anomalies?

Anatomic defects that are present at birth, some may only be clinically apparent later.

What percentage of congenital anomalies are attributed to genetic causes?

Genetic causes account for 12-25% of congenital anomalies.

What is the APGAR score used for?

To assess how a baby is doing at birth and if they need medical assistance.

What is neonatal respiratory distress syndrome (NRDS) also known as?

Hyaline Membrane Disease.

What are the leading causes of death in children under 1 year in the USA?

Congenital malformations, deformations, and chromosomal anomalies.

What is the typical gestational age of a premature infant?

Less than 37 weeks.

What is an example of a common birth defect?

Down syndrome.

What condition is characterized by a cascade of anomalies triggered by an initiating defect?

Sequence.

What is a significant environmental factor that impacts congenital anomalies?

Maternal diseases such as diabetes.

What type of congenital anomaly is caused by extrinsic disturbance of development?

Deformation.

What is the most common type of tumor in infants?

Hemangioma.

What is fetal growth restriction (FGR)?

Condition includes small for gestational age infants, often due to maternal, placental, or fetal factors.

What does SIDS stand for?

Sudden Infant Death Syndrome.

What are some recognized risk factors for SIDS?

Parental smoking, premature birth, and unsafe sleeping positions.

What is the primary cause of immune hydrops?

Hemolytic disease due to blood group antigen incompatibility.

What type of birth defect is characterized by the absence of an organ?

Agenesis.

What is the significance of the 1st month of life in infant mortality?

It is the time period when congenital malformations are the leading cause of death.

What is cystic fibrosis classified as?

An inherited disorder of ion transport.

What is the importance of early diagnosis in conditions like PKU and galactosemia?

Prevents early death and mental retardation.

What is the main treatment for inborn errors of metabolism such as PKU?

Dietary restriction of phenylalanine.

What are the classic phenotypic manifestations of fetal compression in potter sequence?

Flattened facies, clubfeet, and hypoplastic lungs.

What condition is described as an extrinsic disturbance in morphogenesis caused by tissue destruction?

Disruption.

What is the expected outcome if NRDS therapy is started early?

Excellent chance of recovery.

What is the primary direction for managing necrotizing enterocolitis (NEC)?

Preventive measures related to feeding methods and hygiene.

What key process occurs in fetal hydrops due to severe fetal anemia?

Generalized edema occurs in the fetus.

What are common symptoms of galactosemia?

Vomiting, diarrhea, and jaundice soon after milk ingestion.

How are infant mortality rates changing in the USA and the Philippines?

Declining due to better prenatal care and healthcare access.

What does the acronym TORCH stand for in the context of perinatal infections?

Toxoplasmosis, Other, Rubella, Cytomegalovirus, and Herpes simplex.

What is a notable feature of neuroblastoma?

Spontaneous or therapy-induced differentiation of primitive neuroblasts.

Which two types of hydrops fetalis exist?

Immune hydrops and non-immune hydrops.

What is the main cause of infection leading to congenital anomalies?

Maternal infections like rubella and syphilis.

What is the primary cause of congenital heart defects?

Genetic factors and environmental influences.

Which enzyme deficiency is related to phenylketonuria (PKU)?

Phenylalanine hydroxylase (PAH).

What condition does oligo- or polyhydramnios indicate?

Potential fetal abnormalities or issues.

What is the relationship between smoking during pregnancy and congenital anomalies?

Smoking increases the risk of various birth defects.

What kind of teratogenesis is associated with Valproic Acid?

Causes craniofacial and neural tube defects.

What is a frequent complication of premature infants in the neonatal intensive care unit?

Respiratory distress syndrome (RDS).

What does the term hypoplasia refer to in congenital anomalies?

Underdevelopment or decreased size of an organ due to a failure of growth.

What is the leading malignant tumor in children age 0-4 years?

Leukemia.

What are symptoms characteristic of cystic fibrosis?

Chronic lung disease, pancreatic insufficiency, and meconium ileus.

What percentage of congenital anomalies has unknown causes?

40-60%.

What is the purpose of the newborn screening test?

To detect inborn errors of metabolism early.

What is the major risk factor for necrotizing enterocolitis (NEC) in neonates?

Enteral feeding.

What type of error in morphogenesis is seen in polydactyly?

Malformation.

What does the term dysplasia mean?

Abnormal organization or function of cells.

What prenatal exposure can lead to phenylketonuria in an infant?

Maternal phenylketonuria during pregnancy.

What is a common imaging feature of NRDS on chest X-ray?

Ground-glass opacity.

What changes might occur in the lungs of an infant who survived NRDS?

Reparative changes with improved alveolar structure.

Among the causes of death for infants less than 1 year, which ranks highest?

Congenital anomalies.

What factors are taken into account for fetal growth restriction?

Fetal, placental, and maternal conditions.

What is the term for tumors that resemble normal tissue but are located in an unusual area?

Heterotopia.

What is the most common cause of neonatal sepsis?

Group B Streptococcus.

What is the function of pulmonary surfactant in neonatal lungs?

Reduces surface tension and prevents alveolar collapse.

What type of analysis can help evaluate surfactant production in neonates?

Analysis of amniotic fluid phospholipids.

What role does maternal diabetes play in fetal outcomes?

Can result in fetal macrosomia and anomalies.

What disease is characterized by excessive, focal overgrowth of cells?

Hamartoma.

Which congenital disorder results from transplacental infection?

Toxoplasmosis.

What condition presents with a strong musty odor in infants?

Phenylketonuria.

What is a common result of maternal infections like syphilis during pregnancy?

Congenital syphilis.

What is the most common chronic condition affecting infants with low birth weight?

Respiratory distress syndrome (RDS).

What historical disease was prevalent in the 19th century due to lack of vaccination?

Rubella embryopathy.

Which cognitive effects can occur due to untreated phenylketonuria?

Severe mental retardation and neurological impairment.

What is the proposed management for children with cystic fibrosis?

Multidisciplinary care including dietary management and respiratory therapy.

What factor is associated with an increased risk for developing congenital anomalies in infants?

Maternal drug use.

What is the major role of the clinical pathologist regarding congenital anomalies?

Analyzing specimens for diagnosis and treatment planning.

What structures develop as a result of disruptions in embryonic development?

Various organ systems, leading to congenital anomalies.

What is a significant signature of cystic fibrosis in newborn screening?

Elevated sweat chloride concentration.

What is the common presentation of necrotizing enterocolitis in infants?

Abdominal distension, diarrhea, and blood in stool.

What is the common factor among most congenital malformations?

A combination of genetic and environmental factors.

What developmental period is most critical for teratogenic effects?

The first 3-9 weeks of gestation.

What should be considered when evaluating infant mortality causes internationally?

Different healthcare access and environmental factors.

What does NRDS stand for?

Neonatal Respiratory Distress Syndrome.

What does the acronym SUID refer to?

Sudden Unexpected Infant Death.

What is the overall goal of studying pediatric pathologies?

To improve management and outcomes in children.

What is the significance of prenatal care in reducing infant mortality?

Better monitoring and prevent complications.

What methods are utilized in screening for metabolic disorders in newborns?

Blood tests for specific metabolites.

What is an essential method of managing inborn errors of metabolism?

Dietary management to prevent complications.

What complication can arise from neonatal respiratory distress syndrome?

Bronchopulmonary dysplasia.

What is the leading infectious cause of birth defects?

Maternal infections, especially during early gestation.

Which tumors are found more commonly in infants than malignancies?

Benign tumors, particularly hemangiomas.

What are the challenges with diagnosing cystic fibrosis in infants?

Symptoms may vary and overlap with other conditions.

Name a common characteristic of benign tumors in children.

Tend to be more common than malignant tumors.

What can targeted dietary interventions do in conditions like galactosemia?

Prevent developmental delays and other complications.

Why is it important to differentiate SIDS from other causes of infant death?

To ensure proper investigation and prevent mislabeling cases.

What is a significant factor influencing maternal health outcomes?

Socioeconomic status.

Identify one way to improve outcomes for children with congenital heart defects.

Early diagnosis and surgical intervention.

What is the typical clinical approach to managing congenital anomalies?

Multidisciplinary assessment to tailor interventions.

What long-term considerations should be taken into account for preterm infants?

Potential developmental delays and health complications.

What is the primary risk factor for congenital anomalies?

Genetic factors and environmental exposures.

What is teratogenicity?

The ability of a substance to cause congenital anomalies.

What is the significance of maternal folic acid intake before conception?

Reduces the risk of neural tube defects in the developing fetus.

What role do prenatal vitamins play in pregnancy?

Support fetal development and prevent deficiencies in maternal nutrition.

What is the impact of maternal smoking during pregnancy?

Increases risks of low birth weight and preterm birth, and can lead to congenital anomalies.

What does a congenital heart defect often require for management?

Surgical intervention may be necessary depending on the severity.

What condition does hyperbilirubinemia in newborns indicate?

Elevated levels of bilirubin, potentially leading to jaundice.

What is the risk associated with advanced maternal age in pregnancy?

Increased risk of chromosomal abnormalities such as Down syndrome.

What complication can result from untreated gestational diabetes?

May lead to fetal macrosomia and increased risk of birth injuries.

How does maternal obesity affect fetal development?

Increases the risk of congenital anomalies and complications during delivery.