Chapter 6

Question 1

Fetal _______ syndrome refers to a complex of abnormalities due to maternal consumption of alcoholic beverages while pregnant that includes growth retardation, dysfunction of CNS, and charicteristic facial dysmorphology (small head circumference & thin upper lip). These children are mentally retarded and have short memory spans, impulsivness, and emotional instability.

Answer 1

Fetal alcohol syndrome refers to a complex of abnormalities due to maternal consumption of alcoholic beverages while pregnant that includes growth retardation, dysfunction of CNS, and charicteristic facial dysmorphology (small head circumference & thin upper lip). These children are mentally retarded and have short memory spans, impulsivness, and emotional instability.

Question 2

Osteogenisis imperfecta is a group of inherited disorders expressed as fragility of bone. It is a disease of a defect in the synthesis of type _______ collagen. Children are plagued with fractures & they have _______ sclerae due to deficiency of collagen fibers.

Answer 2

Osteogenisis imperfecta is a group of inherited disorders expressed as fragility of bone. It is a disease of a defect in the synthesis of type 1 collagen. Children are plagued with fractures & they have blue sclerae due to deficiency of collagen fibers.

Question 3

Fibrillin gene mutations are found in patients with _______ syndrome. Fibrillin is a family of connective tissues. Patients are tall, have aneurysms, & have long fingers. Marfan’s syndrome is autosomal _______.

Answer 3

Fibrillin gene mutations are found in patients with Marfan syndrome. Fibrillin is a family of connective tissues. Patients are tall, have aneurysms, & have long fingers. Marfan’s syndrome is autosomal dominant.

Question 4

_______ gene mutations are found in patients with epidermolytic hyperkeratosis.

Answer 4

Keratin gene mutations are found in patients with epidermolytic hyperkeratosis.

Question 5

Anencephaly = congenaital absence of the cranial vault with, cerebral hemispheres missing or reduced in size. It us a defect in neural _______ closure that results from injury to the fetus between the 23rd and 26th day of gestation. The brain exposed brain is incompletely formed or absent.

Answer 5

Anencephaly = congenaital absence of the cranial vault with, cerebral hemispheres missing or reduced in size. It us a defect in neural tube closure that results from injury to the fetus between the 23rd and 26th day of gestation. The brain exposed brain is incompletely formed or absent.

Question 6

Neurofibromatosis type 1 (NF1) is characterized by disfiguring _______, areas of dark pigmentation of the skin, and pigmented lesions of the iris. It is an autosomal dominant disorder. ½ ofthe cases are sporadic rather than familial.

The protein product, termed neurofibromin is expressed in many tissues and belongs to a family of GTPase-activating proteins (GAP), which _______ ras protein. Hence, NF1 is a tumor suppressor gene. Loss of GAP activity permits uncontrolled ras p21 activation that forms benign _______ (a neurofibroma is a benign nerve sheath tumor in the peripheral nervous system).

One of the complications of NF1 is the appearance of a _______ in a neurofibroma.

Answer 6

Neurofibromatosis type 1 (NF1) is characterized by disfiguring neurofibromas, areas of dark pigmentation of the skin, and pigmented lesions of the iris. It is an autosomal dominant disorder. ½ ofthe cases are sporadic rather than familial.

The protein product, termed neurofibromin is expressed in many tissues and belongs to a family of GTPase-activating proteins (GAP), which inactivate ras protein. Hence, NF1 is a tumor suppressor gene. Loss of GAP activity permits uncontrolled ras p21 activation that forms benign neurofibromas (a neurofibroma is a benign nerve sheath tumor in the peripheral nervous system).

One of the complications of NF1 is the appearance of a neurofibrosarcoma in a neurofibroma.

Question 7

Screening of pregnant women for serum _______ and examination by ultrasonography allow detection of virtually all anencephalic fetuses.

Answer 7

Screening of pregnant women for serum Alfa-fetoprotein (AFP) and examination by ultrasonography allow detection of virtually all anencephalic fetuses.

Question 8

Tay-Sachs disease is a class of infantile lysosomal storage disease called GM2 gangliosidoses. This ganglioside is deposited in neurons of the CNS due to faliure of lysosomal degradation & accumulation of an unmetabolized substrate. The lysosomal catabolism of ganglioside GM2 is accomplished via the activity of Hexosaminidase _______. A deficiency in the a or b subunuts of the Hexosaminidases will give Tay-Sachs.

Tay-Sachs is inhereted as an autosomal _______ trait and is predominantly a disorder of Ashkenazi Jews.

N-acetylgalactosaminidase gene mutations are found in Tay-Sachs.

Answer 8

Tay-Sachs disease is a class of infantile lysosomal storage disease called GM2 gangliosidoses. This ganglioside is deposited in neurons of the CNS due to faliure of lysosomal degradation & accumulation of an unmetabolized substrate. The lysosomal catabolism of ganglioside GM2 is accomplished via the activity of Hexosaminidase A & B. A deficiency in the a or b subunuts of the Hexosaminidases will give Tay-Sachs.

Tay-Sachs is inhereted as an autosomal recessive trait and is predominantly a disorder of Ashkenazi Jews.

N-acetylgalactosaminidase gene mutations are found in Tay-Sachs.

Question 9

Cystic fibrosis is an autosomal _______ disorder affecting children, which is characterized by chronic pulmonary disease, deficient exocrine pancreatic function, and other complications of the bowel, liver, and reproductive tract. CF diagnosis is made by demonstration of increased concentrations of _______ in the sweat.

The _______ chloride conductance characteristic of CF results in a faliure of chloride reabsorption by the sweat glands, hence, this gives salty sweat. All of the pathological consequences of CF can be attributed to the presence of abnormally _______ mucus. Lack of pancreatic enzyme secretion in patients with CF causes malabsorption and foul-smelling fatty stools (steatorrhea).

The gene responsible for cystic fibrosis CF encodes a large protein termed the cystic fibrosis transmembrane conductance regulator. CFTR is a membrane transporter that has a _______ ion channel. The largest cause of morbidity and mortality in CF patients is pulmonary disease secondary to chronic infections.

Answer 9

Cystic fibrosis is an autosomal recessive disorder affecting children, which is characterized by chronic pulmonary disease, deficient exocrine pancreatic function, and other complications of the bowel, liver, and reproductive tract. CF diagnosis is made by demonstration of increased concentrations of electrolytes in the sweat.

The decreased chloride conductance characteristic of CF results in a faliure of chloride reabsorption by the sweat glands, hence, this gives salty sweat. All of the pathological consequences of CF can be attributed to the presence of abnormally thick mucus. Lack of pancreatic enzyme secretion in patients with CF causes malabsorption and foul-smelling fatty stools (steatorrhea).

The gene responsible for cystic fibrosis CF encodes a large protein termed the cystic fibrosis transmembrane conductance regulator. CFTR is a membrane transporter that has a chloride ion channel. The largest cause of morbidity and mortality in CF patients is pulmonary disease secondary to chronic infections.

Question 10

Familial hypercholesterolemia is an autosomal _______ disorder characterized by high LDL levels in the blood, accompanied by the deposition of cholesterol in arteries, tendons, and skin.

Familial hypercholesterolemia results from abnormalities in the gene that encodes the cell surface receptor that removes _______ from the blood. In other words, it is a disorder of the gene encoding the _______ receptor.

Clinically, the disease presents as severe atherosclerosis, which usually becomes symptomtic at an early age.

Answer 10

Familial hypercholesterolemia is an autosomal dominant disorder characterized by high LDL levels in the blood, accompanied by the deposition of cholesterol in arteries, tendons, and skin.

Familial hypercholesterolemia results from abnormalities in the gene that encodes the cell surface receptor that removes LDL from the blood. In other words, it is a disorder of the gene encoding the LDL receptor.

Clinically, the disease presents as severe atherosclerosis, which usually becomes symptomtic at an early age.

Question 11

Phenylketonuria is an autosomal recessive disorder characterized by progressive mental deterioration in the first few years of life due to high levels of circulating _______, secondary to a deficit of phenylalanine hydroxylase. Infants with PKU tend to have fair skin, blond hair, and blue eyes as the inability to convert phenylalanine to tyrosine leads to _______ melanin synthesis. The patients exude a _______ odor due to the formation of phenylacetic acid. The treatment involves _______ of phenylalanine in the diet.

Phenylalanine is an _______ amino acid that is derived exclusivley from the diet and is oxidized in the liver to _______ by phenylalanine _______. Accumulation of phenylalanine itself, is responsible for the _______ damage central to this disease.

Answer 11

Phenylketonuria is an autosomal recessive disorder characterized by progressive mental deterioration in the first few years of life due to high levels of circulating phenylalanine, secondary to a deficit of phenylalanine hydroxylase. Infants with PKU tend to have fair skin, blond hair, and blue eyes as the inability to convert phenylalanine to tyrosine leads to reduced melanin synthesis. The patients exude a mousy odor due to the formation of phenylacetic acid. The treatment involves restriction of phenylalanine in the diet.

Phenylalanine is an essential amino acid that is derived exclusivley from the diet and is oxidized in the liver to tyrosine by phenylalanine hydroxylase. Accumulation of phenylalanine itself, is responsible for the neurologic damage central to this disease.

Question 12

Ehlers-Danlos syndromes are a group of rare, autosomal _______, inherited disorders of connective tissue that feature remarkable hyperelasticity and fragility of the skin, joint mobility, and often a bleeding diathesis (unusual susceptibility to bleeding). The common feature of this disorder is a defect in collagen & trivial injuries can lead to serious wounds. Since sutures do not hold well, dehiscence of surgical incisions is common (Wound dehiscence is a surgical complication in which a wound ruptures along surgical suture.).

Answer 12

Ehlers-Danlos syndromes are a group of rare, autosomal dominant, inherited disorders of connective tissue that feature remarkable hyperelasticity and fragility of the skin, joint mobility, and often a bleeding diathesis (unusual susceptibility to bleeding). The common feature of this disorder is a defect in collagen & trivial injuries can lead to serious wounds. Since sutures do not hold well, dehiscence of surgical incisions is common (Wound dehiscence is a surgical complication in which a wound ruptures along surgical suture.).

Question 13

Gaucher disease is characterised by the accumulation of _______, primarily in the lysosomes of macrophages. There is an abnormality in glucocerebrosidase. The hallmark of this disease is the presence of accumulated gaucher cells, which are lipid-laden macrophages in the red pulp of the spleen, liver sinusoids, lymph nodes, and bone marrow.

Buzzword = _______ tissue paper & answer is Glucosidase

Answer 13

Gaucher disease is characterised by the accumulation of glucosylceramide, primarily in the lysosomes of macrophages. There is an abnormality in glucocerebrosidase. The hallmark of this disease is the presence of accumulated gaucher cells, which are lipid-laden macrophages in the red pulp of the spleen, liver sinusoids, lymph nodes, and bone marrow.

Buzzword = wrinkled tissue paper & answer is Glucosidase

Question 14

Galactosidase gene mutations occur in _______ diease.

Answer 14

Galactosidase gene mutations occur in Fabry diease.

Question 15

Supplementation of _______ acid in the maternal diet reduces the insidence of neural tube defects like spina bifida. Folic acid deficiency can result in elevated serum levels of homocysteine, a maternal risk factor for neural tube defects.

Answer 15

Supplementation of folic acid in the maternal diet reduces the insidence of neural tube defects like spina bifida. Folic acid deficiency can result in elevated serum levels of homocysteine, a maternal risk factor for neural tube defects.

Question 16

Cleft lip and cleft palate exemplify _______ inheritance where multiple genes interact with various enviornmental factors to produce a disease. Cleft lip and cleft palate is a malformation syndrome that may be caused by _______ like rubella and anticonvulsants. It is often also encountered in children with _______ abnormalities. Fusion of the cleft normally occurs on day _______ of gestation where the frontal prominences fuse with the maxillary process to form the upper lip.

_______ chromosomal abnormalities may cause cleft lip and cleft palate.

Answer 16

Cleft lip and cleft palate exemplify multifactorial inheritance where multiple genes interact with various enviornmental factors to produce a disease. Cleft lip and cleft palate is a malformation syndrome that may be caused by teratogens like rubella and anticonvulsants. It is often also encountered in children with chromosomal abnormalities. Fusion of the cleft normally occurs on day 35 of gestation where the frontal prominences fuse with the maxillary process to form the upper lip.

Structural chromosomal abnormalities may cause cleft lip and cleft palate.

Question 17

Duchenne muscular dystrophy is a severe, _______ condition characterized by progressive degeneration of muscles, particularly those of the pelvic and shoulder girles. Becker muscular dystrophy is a milder form. DMD & BMD are caused by a deficiency of _______. The absence of dystrophin leads to a defective membrane that is damaged during contraction, which predisposes the _______ of the myocyte.

Serum creatine kinase is _______. In advanced stages, cardiac symptoms are universal & cardiomyopathy is a common cause of _______.

Answer 17

Duchenne muscular dystrophy is a severe, x-linked recessive condition characterized by progressive degeneration of muscles, particularly those of the pelvic and shoulder girles. Becker muscular dystrophy is a milder form. DMD & BMD are caused by a deficiency of dystrophin. The absence of dystrophin leads to a defective membrane that is damaged during contraction, which predisposes the death of the myocyte.

Serum creatine kinase is increased. In advanced stages, cardiac symptoms are universal & cardiomyopathy is a common cause of death.

Question 18

Kleinfelter syndrome XXY or XXXY arises due to _______ during gametogenisis.

Answer 18

Kleinfelter syndrome XXY or XXXY arises due to nondisjunction during gametogenisis.

Question 19

The pathogenisis of respiratory distress syndrome of the newborn is linked to a deficiency of _______. Collapse of the alveoli secondary to surfactant deficiency results in perfused, but not ventilated alveoli which leads to hypoxia and acidosis.

The leak of _______** rich fluid into the alveoli from the injured vascular bed contributes to the pathologic features of RDS. The alveolar ducts are lined by conspicuous, eosinophilic, fibrin-rich, amorphous structurs called hyaline membranes.

The first symptom of RDS is increased respiratory effort. Necrotizing _______ is the most commonly acquired GI emergency in newborns and is thought to be related to ischemia of the intestinal mucosa. This injury is followed by bacterial colonization typically with Clostridium difficile.

Surfactant is made by type _______ pneumocytes. Surfactant is composed of several phospholipids, 75% phosphatydilcholine or lecithin and 10% phosphatidylglycerol. The concentration of _______ increases rapidly at the beginning of the third trimester. Maturity of the fetal lung can be assesed by measuring pulmonary surfactant (especially _______) released into the amniotic fluid.

Answer 19

The pathogenisis of respiratory distress syndrome of the newborn is linked to a deficiency of surfactant. Collapse of the alveoli secondary to surfactant deficiency results in perfused, but not ventilated alveoli which leads to hypoxia and acidosis.

The leak of fibrin rich fluid into the alveoli from the injured vascular bed contributes to the pathologic features of RDS. The alveolar ducts are lined by conspicuous, eosinophilic, fibrin-rich, amorphous structurs called hyaline membranes.

The first symptom of RDS is increased respiratory effort. Necrotizing enterocolitis is the most commonly acquired GI emergency in newborns and is thought to be related to ischemia of the intestinal mucosa. This injury is followed by bacterial colonization typically with Clostridium difficile.

Surfactant is made by type 2 pneumocytes. Surfactant is composed of several phospholipids, 75% phosphatydilcholine or lecithin and 10% phosphatidylglycerol. The concentration of lecithin increases rapidly at the beginning of the third trimester. Maturity of the fetal lung can be assesed by measuring pulmonary surfactant (especially lecithin) released into the amniotic fluid.

Question 20

Mitotic nondisjunction may involve embryonic cells during early stages of development and result in chromosomal aberrations. This condition in which the body contains 2 or more karyotypically different cell lines is called _______. Mosaicism involving sex chromosmes is found in patients with Turner and Kleinfelter syndroms. Turner syndrome refers to the spectrum of abnormalities that result from the presence of complete or partial monosomy of the _______ chromosome in a phenotypic female.

Half of women with Turner lack an entire X chromosome and have monosomy. The remainder of women with Turner syndrome are _______ or display structural abberations of the X chromosome. Hence, the genotype may be either 45 X or 46 XX. Mosaics with a 45 X or 46 XX karyotype tend to have milder phenotypic manigestations.

Answer 20

Mitotic nondisjunction may involve embryonic cells during early stages of development and result in chromosomal aberrations. This condition in which the body contains 2 or more karyotypically different cell lines is called mosaicism. Mosaicism involving sex chromosmes is found in patients with Turner and Kleinfelter syndroms. Turner syndrome refers to the spectrum of abnormalities that result from the presence of complete or partial monosomy of the X chromosome in a phenotypic female.

Half of women with Turner lack an entire X chromosome and have monosomy. The remainder of women with Turner syndrome are mosaics or display structural abberations of the X chromosome. Hence, the genotype may be either 45 X or 46 XX. Mosaics with a 45 X or 46 XX karyotype tend to have milder phenotypic manigestations.

Question 21

Erythroblastosis fetalis is an antibody-mediated hemolytic disease that affects the fetus in utero. It is a hemolytic sidease of the newborn caused by maternal antibodies against fetal _______. It is usually caused by transplacental passage of maternal antibodies to antigens expressed on fetal RBC’s. The introduction of Rh-positive fetal erythrocytes into the circulation of an Rh-_______ mother at the time of delivery sensitizes her to the D antigen.

When the antigen-sentistized mother again bears another Rh-_______ fetus, much smaller quantities of the fetal D antigen elicit an increase in antibody titer. _______ antibodies are small enough to cross the placenta and produce _______ in the fetus. The severity of erythroblastosis tends to increase with each succeeding pregnancy.

The severity of erythroblastosis fetalis varies from mild hemolysis to fatal anemia. Hydrops fetalis is the most _______ form of erythroblastosis fetalis and is charaterized by severe edema secondary to congestive heart faliure caused by severe anemia.

Answer 21

Erythroblastosis fetalis is an antibody-mediated hemolytic disease that affects the fetus in utero. It is a hemolytic sidease of the newborn caused by maternal antibodies against fetal erythrocytes. It is usually caused by transplacental passage of maternal antibodies to antigens expressed on fetal RBC’s. The introduction of Rh-positive fetal erythrocytes into the circulation of an Rh-negative mother at the time of delivery sensitizes her to the D antigen.

When the antigen-sentistized mother again bears another Rh-positive fetus, much smaller quantities of the fetal D antigen elicit an increase in antibody titer. IgG antibodies are small enough to cross the placenta and produce hemolysis in the fetus. The severity of erythroblastosis tends to increase with each succeeding pregnancy.

The severity of erythroblastosis fetalis varies from mild hemolysis to fatal anemia. Hydrops fetalis is the most serious form of erythroblastosis fetalis and is charaterized by severe edema secondary to congestive heart faliure caused by severe anemia.

Question 22

Most normal human traits are inherited neither as dominant nor as recessive, but as _______ traits. Some _______ birth defects include cleft lip and palate, pyloric stenosis, hypospadias, and congenital heart disease. The concept of multifactorial inheritance is based on the notion that multiple genes interact with various _______ factors to produce disease in an individual patient.

Answer 22

Most normal human traits are inherited neither as dominant nor as recessive, but as multifactorial traits. Some multifactorial birth defects include cleft lip and palate, pyloric stenosis, hypospadias, and congenital heart disease. The concept of multifactorial inheritance is based on the notion that multiple genes interact with various enviornmental factors to produce disease in an individual patient.

Question 23

Nondisjunction during the _______ meotic division accounts for most of the patients with down syndrome who have trisomy 21. The extra chromosome 21 is of maternal origin in about 95% of cases as well. Translocation of an extra long arm of chromosome 21 to another acrocentric chromosome causes about 5% of cases of down syndrom. Features of down syndrome include: flat facial profile, slanted eyes, large portruding tongue, short nose, short neck, epicanthal folds, dysplastic ears, and a heart murmur.

A neurologic feature of Down syndrome is that morphologic features charectaristic of _______ disease progress in all patients with Down syndrome by age 35; including loss of neurons, senile plaques, and neurofibrillary triangles.

Answer 23

Nondisjunction during the first meotic divison accounts for most of the patients with down syndrome who have trisomy 21. The extra chromosome 21 is of maternal origin in about 95% of cases as well. Translocation of an extra long arm of chromosome 21 to another acrocentric chromosome causes about 5% of cases of down syndrom. Features of down syndrome include: flat facial profile, slanted eyes, large portruding tongue, short nose, short neck, epicanthal folds, dysplastic ears, and a heart murmur.

A neurologic feature of Down syndrome is that morphologic features charectaristic of Alzheimer disease progress in all patients with Down syndrome by age 35; including loss of neurons, senile plaques, and neurofibrillary triangles.

Question 24

Most of the common chronic adult disorder are _______ diseases that tend to run in families. Such multifactorial diseases include, diabetes, atherosclerosis, cancers, arthritis, and hypertension.

Answer 24

Most of the common chronic adult disorder are multifactorial diseases that tend to run in families. Such multifactorial diseases include, diabetes, atherosclerosis, cancers, arthritis, and hypertension.

Question 25

Fragile X syndrome, the most common cause of mental retardation is caused by expansion of a CGG trinucleotide _______ in a noncoding region immediatly adjacent to the FMR1 gene on the X chromosome. The CGG repeat silences the FMR1 gene by _______ of its promoter. The abnormal repeat is associated with an inducible fragile site on the X chromosome, which appears in cytogenetic studies as a nonstaining gap or chromosomal break.

The male newborn appears normal at birth, but during childhood, characteristic features appear including an increased head circumference, facial coarsening, joint hyperextendibility, enlarged testes, and abnormalities of the cardiac valves.

Mental _______ is profound and a significant portion of autistic male children carry a fragile X chromosome.

Answer 25

Fragile X syndrome, the most common cause of mental retardation is caused by expansion of a CGG trinucleotide repeat in a noncoding region immediatly adjacent to the FMR1 gene on the X chromosome. The CGG repeat silences the FMR1 gene by methylation of its promoter. The abnormal repeat is associated with an inducible fragile site on the X chromosome, which appears in cytogenetic studies as a nonstaining gap or chromosomal break.

The male newborn appears normal at birth, but during childhood, characteristic features appear including an increased head circumference, facial coarsening, joint hyperextendibility, enlarged testes, and abnormalities of the cardiac valves.

Mental retardation is profound and a significant portion of autistic male children carry a fragile X chromosome.

Question 26

The acronym _______ refers to a complex of similar signs and symptoms produced by fetal or neonatal infection with a variety of microorganism including: Toxoplasma, Rubella, Cytomegalovirus, & Herpes–O represents others including congenital syphilis.

The organism that causes _______, Treponema pallidum is transmited to the fetus by a mother who has acquired syphilis during pregnancy, A maculopapular rash is a common early finding in congenital syphilis. The most common osseous lesion in congenital syphilis is periositis and outward curving of the anterior tibia (saber shins). Flat raised plaques around the anus and female genitalia may develop early or after a few years.

Answer 26

The acronym TORCH refers to a complex of similar signs and symptoms produced by fetal or neonatal infection with a variety of microorganism including: Toxoplasma, Rubella, Cytomegalovirus, & Herpes–O represents others including congenital syphilis.

The organism that causes syphilis, Treponema pallidum is transmited to the fetus by a mother who has acquired syphilis during pregnancy, A maculopapular rash is a common early finding in congenital syphilis. The most common osseous lesion in congenital syphilis is periositis and outward curving of the anterior tibia (saber shins). Flat raised plaques around the anus and female genitalia may develop early or after a few years.

Question 27

Aplasia is the _______ of an organ coupled with persistence of the organ anlage or a rudiment. Thus, aplasia of the lung refers to a condition in which the main bronchus ends blindly in nondescriot tissue comppsed of rudimentary ducts and connective tissue.

Answer 27

Aplasia is the absence of an organ coupled with persistence of the organ anlage or a rudiment. Thus, aplasia of the lung refers to a condition in which the main bronchus ends blindly in nondescriot tissue comppsed of rudimentary ducts and connective tissue.

Question 28

Dysraphic anomalies are defects caused by the faliure of apposed structures to _______.

Answer 28

Dysraphic anomalies are defects caused by the faliure of apposed structures to fuse.

Question 29

Hypoplasia refers to _______ size owing to the incomplete develipment of all or part of an organ.

Answer 29

Hypoplasia refers to reduced size owing to the incomplete develipment of all or part of an organ.

Question 30

Involution faliures reflect the _______ of embryonic or fetal structures that should involute at certain stages of development.

Answer 30

Involution faliures reflect the persistenc of embryonic or fetal structures that should involute at certain stages of development.

Question 31

Atresia refers to defects caused be the incomplete formation of a lumen. Atresia of the esophagus is characterized by partial _______ of the lumen, which was not fully established in embryogenisis.

Answer 31

Atresia refers to defects caused be the incomplete formation of a lumen. Atresia of the esophagus is characterized by partial occlusion of the lumen, which was not fully established in embryogenisis.

Question 32

Dysplasia is caused by _______ organization of cells into tissues, which is a situation that results in abnormal histogenisis.

Answer 32

Dysplasia is caused by abnormal organization of cells into tissues, which is a situation that results in abnormal histogenisis.

Question 33

Ectopia is an anomaly in which an organ is _______ its normal anatomic site.

Answer 33

Ectopia is an anomaly in which an organ is outside its normal anatomic site.

Question 34

Choristomas are minute or microscopic aggrgates of normal tissue in _______ locations. Chistomas are represented by rests of pancreatic tissue in the wall of the gastrointestinal tract or of adrenal tissue in the renal cortex.

Answer 34

Choristomas are minute or microscopic aggrgates of normal tissue in aberrant locations. Chistomas are represented by rests of pancreatic tissue in the wall of the gastrointestinal tract or of adrenal tissue in the renal cortex.

Question 35

_______ represent focal, benign overgrowths of one or more of the mature cellular elemennts of a normal tissue, often with one element predominating.

Answer 35

Hartomas represent focal, benign overgrowths of one or more of the mature cellular elemennts of a normal tissue, often with one element predominating.

Question 36

Hemiangiomas are the most frequently encountered tumors in _______.

Answer 36

Hemiangiomas are the most frequently encountered tumors in childhood.

Question 37

Most cephalohematomas resolve _______ complication and require _______ treatment.

Answer 37

Most cephalohematomas resolve without complication and require no treatment (spontaneous resolution).

Question 38

Kernicterus is defined as a neurological condition associated with severe _______ and characterized by bile staining of the brain. Kernicterus is bilirubin encephalopathy. Kernicterus is confined to newborns with severe _______ hyperbilirubinemia, usually related to erythroblastosis fetalis. The bilirubin delivered from the destruction of erythrocytes and the catabolism of the released heme is not easily _______ by the immature liver, which is deficient in glucoronlyl transferase.

_______ infants are more vulnerable to hyperbilirubinemia and may develop kernicterus @ lower levels of unconjugated bilirubin than neonates. Bilirubin is thought to injure the cells of the brain by interfering with mitochondrial function. Most surviving infants have mental retardation. Exchange transfusions may keep the maximum serum bilirubin at an acceptable level; however, _______ which converts the toxic unconjugated bilirubin into nontoxic isomer that can be excreted into the urine has reduced the need for exchange transfusions.

Answer 38

Kernicterus is defined as a neurological condition associated with severe jaundice and characterized by bile staining of the brain. Kernicterus is bilirubin encephalopathy. Kernicterus is confined to newborns with severe unconjugated hyperbilirubinemia, usually related to erythroblastosis fetalis. The bilirubin delivered from the destruction of erythrocytes and the catabolism of the released heme is not easily conjugated by the immature liver, which is deficient in glucoronlyl transferase.

Premature infants are more vulnerable to hyperbilirubinemia and may develop kernicterus @ lower levels of unconjugated bilirubin than neonates. Bilirubin is thought to injure the cells of the brain by interfering with mitochondrial function. Most surviving infants have mental retardation. Exchange transfusions may keep the maximum serum bilirubin at an acceptable level; however, phototherapy which converts the toxic unconjugated bilirubin into nontoxic isomer that can be excreted into the urine has reduced the need for exchange transfusions.

Question 39

If a conceptus (embryo and its appendages or associated membranes) is exposed to harmful exogenous influences like alcohol, the noxious agent exerts the same effect on al blastomeres and also causes _______. Exogenous toxins acting on _______ embryos do not produce errors of morphogenisis and do not cause malformations.

The most common consequence of toxic exposure at the preimplantation stage is _______ of the embryo, which often passes unnoticed or is perceived as heavy delayed menstrual bleeding. Approximatley 30% of fetilized ova are aborted spontaneously, without the woman being aware that pregnancy had occured.

Answer 39

If a conceptus (embryo and its appendages or associated membranes) is exposed to harmful exogenous influences like alcohol, the noxious agent exerts the same effect on al blastomeres and also causes death. Exogenous toxins acting on preimplantation-stage embryos do not produce errors of morphogenisis and do not cause malformations.

The most common consequence of toxic exposure at the preimplantation stage is death of the embryo, which often passes unnoticed or is perceived as heavy delayed menstrual bleeding. Approximatley 30% of fetilized ova are aborted spontaneously, without the woman being aware that pregnancy had occured.

Question 40

Placenta acreta is an abnormal _____ of the placenta to the underlying uterine wall.

Answer 40

Placenta acreta is an abnormal adherance of the placenta to the underlying uterine wall.

Question 41

Questions I got wrong:

Answer 41

None