The following statements are true regarding mitochondrial inheritance, except:

This is the observed structural, physiologic and biochemical characteristics of an individual.

A pedigree is a graphic representation of a family’s structure and medical history. An affected member coming to medical attention independent of other family members and is designated in the pedigree by an arrow is termed as the:

This type of Mendelian inheritance is characterized by vertical transmission (parent to child) which appears in multiple generations. An affected individual has 50% chance of passing the deleterious gene for each pregnancy.

Which of the statements is true regarding X-linked inheritance?

This condition is present in an individual who has 2 or more different cell lines derived from a single zygote and is usually the result of mitotic nondisjunction.

This is the most common clinically significant type of human chromosome abnormality.

A newborn male was referred for genetic evaluation. He is small for gestational age, with microcephaly, prominent occiput and ventricular septal defect index finger overlapping the 3rd digit and the 5th digit overlapping the 4th, short sternum, and rocker-bottom feet, The newborn most probably this karyotype:

A baby referred to you from the NICU presented with the following features: microphthalmia, microcephaly, scalp defects, midline cleft lip and palate,  polydactyly and a heart murmur. The newborn probably has:

An 18 year old female is referred for short stature. History and physical examination reveal primary amenorrhea, lack of secondary sexual characteristics, systolic murmur, shield chest and widely-spaced nipples. The patient most probably has:

A 20 year old male was referred from the outpatient clinic. He presented with developmental delay, long limbs, small genitalia, gynecomastia and reduced facial and body hair. The following result is expected when you do a chromosomal analysis.

This genetic disorder accounts for 3% of males with intellectual disability and is characterized by autistic behavior and postpubertalmacroorchidism.

A 2 month old baby was brought to your clinic for speech delay. On physical examination, you noted microcephaly,  hypertelorism, epicanthus and flat nasal bridge. The mother describes the baby’s cry as shrill, high-pitched and sounded like that of a cat. The patient most probably has:

The following laboratory findings that should prompt a metabolic work-up include the following:

A 4 month old baby is referred for seizures, hypertonicity, seborrheic rash and a mousy odor. This patient most probably has:

A 1 week old baby was referred for a 2 day history of vomiting and poor feeding associated with decrease in sensorium which gradually progressed to coma.  A sweet odor in urine, sweat, and cerumen was noted. The most likely diagnosis for the patient is:

The treatment for the above disorder includes the following, except :

This condition is the most common fatty acid oxidation disorder characterized by hypoglycemia during episodes of acute illness triggered by prolonged fasting and usually presenting in the 1st 3 months to 5 years of life.

Patients with thistype of lysosomal storage disorder present with anemia, thrombocytopenia, hepatomegaly, splenomegaly, Erlenmeyer flask deformity of the distal femur, and cells with wrinkled-paper appearance in the bone marrow.

Gas should normally be present in the rectum in radiography by how many hours after birth?

After delivery, which statement is FALSE.

Vitamin K is given to all infants shortly after birth to prevent

Infant born at 29 6/7 weeks age of gestation

Newborn weighing 1590 grams

An extremely premature infant may be given a minimum of how much protein within the first 24 hours after birth?

NOT a part of neuromuscular criteria for maturity

True of caput succedaneum

Preferred method to treat progressive and symptomatic post hemorrhagic hydrocephalus

Therapeutic hypothermia is started within how many hours after birth

Brain death after neonatal HIE is diagnosed from the following EXCEPT

True of neonatal resuscitation

Which of the following does NOT signify successful and effective positive pressure ventilation?

True of ABO incompatibility EXCEPT

A full-term infant is considered to have polycythemia

Deficiency bleeding most often in exclusively breastfed infants who did not receive birth dose of Vitamin K prophylaxis

It is the most important neonatal factor predisposing to infection

Which is an INCORRECT statement about postnatal infections

This has the best sensitivity of the neutrophil indices from predicting neonatal sepsis

Recommended specimen volume of whole blood for blood culture

True of hospital acquired infection

The largest fraction of bloodstream infections acquired in the NICU are caused by

True of umbilical hernia

The umbilical blood vessels are functionally closed but anatomically patent for

Initiation of first breath is caused by

Type of apnea observed in 50-75% of cases of apnea of prematurity

True of apnea of prematurity

True of respiratory distress syndrome

Surfactant is present in high concentrations high concentrations in fetal homogenates by how many weeks of gestation

This decreases the risk of RDS

True of patent ductus arteriosus

Transient tachypnea of the newborn

Bochdalek diaphragmatic hernia

For PPHN, persistence of the fetal circulatory pattern of right to left shunting through the PDA and foramen ovale after birth is a result of an excessively

Which is NOT a major risk factor for NEC?

The only absolute indication for surgery in patients with NEC

Which is NOT included in the risk factors in the designation of infant risk in the guidelines for phototherapy and exchange transfusion( as plotted in the Bhutani chart)?

Recommended dose of IVIG as adjunctive treatment for hyperbilirubinemia caused by isoimmune hemolytic disease

The nadir in an infant’s blood glucose concentration is usually reached between

The target plasma glucose concentration before feeds in the first 48 hours of life.

You attended a delivery call for a high risk newborn. The obstetrician informs you that this is an emergency ceasarean delivery due to bleeding placenta previa. She informs you that LMP was on September 3, 2019. Upon birth, you noted that the baby is limp, bradycardic and cyanosed and immediately started NRP. You were luckily able to stabilize the baby and was eventually transferred to the NICU. In the NICU, birthweight was noted at 1,200 grams. What is the classification based on the gestational age and weight.

In the case mentioned above, further history revealed that mother is a 24 year old G3P2 (0211). Previous deliveries were all preterm at 28 and 34 weeks respectively. The 28 weeker died within 24 hours after birth. Mother is a Filipina and Father is an Arab. She had regular pre-natal check-ups. She is also obese with history of Gestational Diabetes on diet restriction. What are the risk factors for preterm delivery in this patient.

Eventually, with good medical care and a well equipped NICU, patient was stable within 48 hours. You decide to start this baby on early parenteral nutrition. With the following principles.

After staying in the NICU, the patient above was subsequently extubated and is now on enteral feeds and Kangaroo Mother Care. All active infection have been treated and all metabolic derangements have been corrected. You now prepare this patient for discharge. The following helps you assess for the readiness of Discharge of High-risk infants, except

Follow up of this patient requires.

The following are eventualities during the establishment of the first breath in newborns: A. Fetal lung fluid is removed through the active transport of sodium across the pulmonary epithelium into the interstitium with subsequent reabsorption into the vasculature B. Inititiation of the first breath is caused by the increase in the PaO2 and a decrease in PaCO2 as a result of various stimulus including a redistribution of cardiac output, decrease body temperature and interruption of placental circulation. C. Increased levels of circulating catecholamines, vasopressin, prolactin and glucocorticoids enhance lung fluid absorption and trigger the change in lung epithelia from chloride secretion to sodium reabsorption.

You attend a delivery of a 37 weeker. Mother is a G2P1 (1001) with uneventful pregnancy. She had regular PNCU and BPS during the last visit to her OB is 8/8. Family histories and previous pregnancy were likewise unremarkable. Upon delivery, baby cried vigorously and pink. At 5 minutes post delivery, while on skin to skin with the mother, you noticed intercostal retractions and the RR was at 70. Baby was also becoming less active. PE of the chest revealed equal breath sounds with good air entry and few fine crackles. You bring the baby to NICU for observation. Your differential diagnosis at this point should include the following except.

In the NICU, you give the baby oxygen supplementation and did a chest x-ray and septic work-up. Chest x-ray showed prominent perihilar vascular markings with small pleural effusions and minimal fluid in the interlobar fissures. What will be your plan? A. Do a blood gas B. Give supportive treatment C. Give furosemide

During his stay at the NICU, there was no progression of distress and the he was able to maintain >95% saturation on minimal oxygen supplementation. At the 15th HOL you eventually wean this patient from oxygen support and started feeding. All other laboratories were normal including a blood gas. In the 30th HOL, you notice that patient is vigorous with good suck, normal tone and no cardiovascular compromise. At 40th HOL he was off oxygen and you decide to transfer him to low dependency NICU care. The final diagnosis is.

Which of the following statements are incorrect regarding Necrotizing Enterocolitis?

The following are risk factors for the Development of Severe Hyperbilirubinemia. Except.

The following statements are true regarding physiologic jaundice in the newborn period. A. The level of indirect bilirubin in the umbilical cord serum is 1-3mg/dl and rises at a rate of <5mg/dl/24 hour B. Jaundice peaks between the 3rd and 5th DOL C. At the peak, bilirubin levels is usually between 5-6mg/dL and decreasing to <2mg/dl between 5th and 7th days after birth

The following are complications associated with phototherapy, except.

The following statements are true regarding Hemorrhagic disease in the newborn except:

The following are true regarding Vitamin K deficiency, except.

Persistence of excessively large anterior and posterior fontanels has been associated with the following disorder EXCEPT:

Absence or hypoplasia of the 7th nerve nucleus presenting as symmetric facial palsy:

Most common complication of CMV infection

TRUE of Symmetric IUGR

Routine cranial ultrasound is recommended to screen IVH: