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Anatomy and Physiology  Cell nucleus: 46 chromosomes or 23 pairs  Most somatic cells have ability to reproduce through mitosis 2.

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Presentation on theme: "Anatomy and Physiology  Cell nucleus: 46 chromosomes or 23 pairs  Most somatic cells have ability to reproduce through mitosis 2."— Presentation transcript:


2 Anatomy and Physiology  Cell nucleus: 46 chromosomes or 23 pairs  Most somatic cells have ability to reproduce through mitosis 2

3 Anatomy and Physiology  Approximately 2 percent of newborns are born with congenital anomalies  Causes 20 percent genetic 5 percent chromosomal 10 percent environmental 3

4 Diagnostic Tests  Ultrasound of fetus: detects malformations  Amniotic fluid: reveals genetic and chromosomal disorders  Maternal blood: reveals abnormal fetal substances 4

5 Muscular Dystrophy  Genetic degeneration of muscles  Most common type is Duchenne’s MD  Onset between two and five years of age  No cure  Treatment: physical therapy, orthopedic devices, exercise 5

6 Congenital Hip Dislocation  Abnormal hip joint resulting in femoral head slipping out of normal position  Symptoms Infant exhibits asymmetrical folds of affected thigh Difference in leg length Limited abduction 6

7 Congenital Hip Dislocation  Treatment Closed reduction Maintenance of normal position by use of a splint or cast for 2 to 3 months Surgery in older children 7

8 Osteogenesis Imperfecta  Inherited condition of abnormally brittle bones leading to fractures  No cure 8

9 Hydrocephalus  Abnormal accumulation of cerebrospinal fluid in brain due to obstruction  Symptoms Enlargement of infant head and bulging eyes Tight scalp and prominent head veins Shrill high-pitched cry and unable to lift head Mental retardation 9

10 Hydrocephalus  Treatment Surgery to place shunt from brain to peritoneal cavity to drain excess fluid 10

11 Cerebral Palsy  Congenital bilateral paralysis Inadequate blood or oxygen supply to brain during fetal development  Symptoms Hyperactive reflexes and muscle contraction Muscle weakness and “scissors gait” 11

12 Cerebral Palsy  No cure  Treatment Physical and speech therapy Orthopedic cast, braces, and surgery Anticonvulsants and muscle relaxants 12

13 Spina Bifida  Congenital disorder Opening in spinal column  Forms of spina bifida Spina bifida occulta Meningocele Myelomengiocele 13

14 Cardiovascular  Defects may be small or quite large  Early diagnosis and surgery improved dramatically, reducing mortality rate 14

15 Cardiovascular  Types of defects Atrial and Ventricular Septal Defects Patent Ductus Arteriosus Coarctation of the Aorta Tetralogy of Fallot 15

16 Cardiovascular  Types of defects Right ventricle hypertrophy Ventricle septal defect Abnormal placement of aorta 16

17 Digestive  Types of digestive malformations Meckel’s Diverticulum: outpouching of diverticulum of ileum Esophageal atresia: abnormal esophagus Congenital diaphragmatic hernia Imperforate anus 17

18 Developmental Malformations  Cleft Lip - formerly called “harelip” One or more splits in upper lip Affects boys more frequently girls Treatment is surgical repair 18

19 Developmental Malformations  Cleft Palate More serious than cleft lip Involves roof of mouth Treatment is surgical 19

20 Pyloric Stenosis  Narrowing of lower end of stomach  Common anomaly of digestive tract  Symptom: projectile vomiting  Treatment: pylorotomy 20

21 Hirschsprung’s Disease  Absence of nerves in segment of colon; usually sigmoid colon  Symptoms Chronic constipation Abdominal distention 21

22 Hirschsprung’s Disease  Treatment Surgical removal of the affected segment Temporary colostomy may be necessary to allow adequate healing of colon 22

23 Phenylketonuria  Genetic disorder: faulty metabolism of the protein phenylalanine  Diagnosis PKU blood testing 72 hours after birth Testing is mandatory in United States  Lack of treatment: mental retardation 23

24 Hypospadias  Abnormal congenital opening of male urinary meatus Opens under surface of penis  Mild cases can be left untreated  Surgical repair is treatment of choice for severe cases 24

25 Wilm’s Tumor  Most common solid tumor affecting children and infants  Highly malignant and usually replaces one whole kidney  Treatment involves chemotherapy and surgery 25

26 Turner’s Syndrome  Chromosomal disorder: females have only one X chromosome rather than XX  Ovaries are either abnormal or absent  Treatment: reduce growth with hormones and estrogen therapy 26

27 Klinefelter’s Syndrome  Chromosomal disorder: affected males have extra X chromosome  Symptoms Not diagnosed until puberty due to abnormal male sexual development Small penis and testes 27

28 Klinefelter’s Syndrome  Symptoms Enlarged breasts Absent or scant body hair Impaired intelligence  Treatment Testosterone therapy 28

29 Cystic Fibrosis  Hereditary disorder: affects exocrine glands causing viscous secretions  Treatment Postural drainage Chest clapping Antibiotics, bronchodilators, expectorants, and oxygen 29

30 Down Syndrome  Formerly called “mongolism”  Symptoms Mild to severe mental retardation Flat nasal bridge, low-set ears, slanted eyes Epicanthus Thick protruding tongue 30

31 Down Syndrome  Abnormal extremities  Organ defects  No cure 31

32 Failure to Thrive  Lack of physical growth and development in infant or child  Symptoms Weight loss or failure to gain weight, anorexia Irritability Vomiting, diarrhea, weak, “rag doll” limpness 32

33 Failure to Thrive  Symptoms Unresponsiveness to affection Wary of parents or caregivers Avoid eye contact Stiffen when cuddled 33

34 Failure to Thrive  Treatment Teaching mothering and nurturing behaviors to mother/parents Promotion of self-esteem 34

35 Fetal Alcohol Syndrome  Birth defects to child due to mother consuming alcohol during pregnancy  Symptoms Varying degrees of mental retardation Decreased physical development 35

36 Fetal Alcohol Syndrome  Symptoms Irritability in infants Hyperactivity in older children Microcephaly Increased incidence of ventricular septal defects 36

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