fm cases

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9/6/15 7:28 PM increased risk of breast cancer if a first-degree relative has had breast cancer. (A first-degree relative is a parent or a sibling.) Waist circumference is also important to consider. In adults with a BMI of 25 to 34.9 kg/m2, a waist circumference greater than 102 cm (40 in) for men and 88cm (35 in) for women, is associated with a greater risk of hypertension, type 2 diabetes, and dyslipidemia and CHD. At 21 years of age -- cervical cancer screening should begin. Between the ages of 21-29 years -- screening should be performed every three years. Between the ages of 30-65 years -- screening can be done every three years with cytology alone, or every five years if co-tested for HPV. Women older than 65 years who have had adequate screening within the last ten years may choose to stop cervical cancer screening. Adequate screening is three consecutive normal pap tests with cytology alone or two normal pap tests if combined with HPV testing. Women who have undergone a total hysterectomy for benign reasons do not require cervical cancer screening. Virtually all cervical cancers are caused by infection with certain high-risk types of human papilloma virus (HPV). HPV is transmitted via vaginal (or oral) intercourse. Transmission by nonpenetrative genital contact is rare. Therefore, squamous cell carcinoma of the cervix is a disease of sexually active women. Factors such as age, nutritional status, immune function, and possibly silent genetic polymorphisms modulate the incorporation of viral DNA into host cells.

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Page 1: FM cases

9/6/15 7:28 PM

increased risk of breast cancer if a first-degree relative has had breast

cancer. (A first-degree relative is a parent or a sibling.)

Waist circumference is also important to consider. In adults with a BMI of 25

to 34.9 kg/m2, a waist circumference greater than 102 cm (40 in) for men

and 88cm (35 in) for women, is associated with a greater risk of

hypertension, type 2 diabetes, and dyslipidemia and CHD.

At 21 years of age -- cervical cancer screening should begin.

Between the ages of 21-29 years -- screening should be performed every

three years.

Between the ages of 30-65 years -- screening can be done every three

years with cytology alone, or every five years if co-tested for HPV.

Women older than 65 years who have had adequate screening within the

last ten years may choose to stop cervical cancer screening. Adequate

screening is three consecutive normal pap tests with cytology alone or two

normal pap tests if combined with HPV testing.

Women who have undergone a total hysterectomy for benign reasons do not

require cervical cancer screening.

Virtually all cervical cancers are caused by infection with certain high-risk

types of human papilloma virus (HPV).

HPV is transmitted via vaginal (or oral) intercourse. Transmission by

nonpenetrative genital contact is rare. Therefore, squamous cell carcinoma

of the cervix is a disease of sexually active women. Factors such as age,

nutritional status, immune function, and possibly silent genetic

polymorphisms modulate the incorporation of viral DNA into host cells.

Sexual behaviors associated with an increased cervical cancer risk

include:

Early onset of intercourse

A greater number of lifetime sexual partners

Other risk factors include:

Page 2: FM cases

Diethylstilbestrol (DES) exposure in utero.

Cigarette smoking, which is strongly correlated with cervical dysplasia and

cancer, independently increasing the risk by up to fourfold.

Immunosuppression also significantly increases the risk of developing

cervical cancer

The USPSTF, the American College of Obstetricians and Gynecologists, the

American College of Physicians, and the Canadian Task Force on the Periodic

Health Examination all recommend against routine screening for

ovarian cancer in asymptomatic women.

insufficient evidence to recommend screening for endometrial cancer in

women with no identified risk factors. 

For women with, or at high risk for, hereditary non-polyposis colon cancer

(HNPCC), annual screening should be offered for endometrial cancer, with

endometrial biopsy beginning at age 35.

USPSTF does recommend screening for lung cancer in patients 55-65 years

old with 30-pack-history of smoking by low-dose CT scan. 

American Cancer Society recommends the cancer related checkup should

include examination of the skin.  USPSTF, however, concludes that the

current evidence is insufficient to assess the balance of benefits and harms

of using a whole-body skin examination by a primary care clinician

Mammography: Biennial screening mammography for women aged 50-74

years

Breast exam: presence of a single, hard, immobile lesion of approximately 2

cm or larger with irregular borders increases the likelihood of malignancy.

Diagnostic tests:

If it feels cystic, aspiration can be attempted and the fluid sent for cytology.

Fine needle aspiration is a procedure family physicians can do in the office.

If it feels solid, mammography is the next step.

Ultrasound can be helpful in distinguishing a solid mass from a cystic lesion.

Page 3: FM cases

Reasons for nipple discharge may be physiologic or pathologic:

Physiologic Pathologic

Pregnancy

Excessive breast

stimulation

Prolactinoma

Breast cancer

-Intraductal papilloma

-Mammary duct ectasia

-Paget's disease of the breast

-Ductal carcinoma in situ

Hormone imbalance

Injury or trauma to breast

Breast abscess

Use of medications use (e.g., antidepressants,

antipsychotics, some antihypertensives and opiates)

Page 4: FM cases

Interpretation of Pap Test Results

The Pap test generally shows one of the following:

normal results

low grade squamous epithelial cells (LSIL)

high grade squamous epithelial cells (HSIL)

atypical glandular cells of undetermined significance (AGUS), or

atypical squamous cells of undetermined significance (ASC-US).

ASC-US is considered an inconclusive pap test result that requires follow-up

testing to determine appropriate patient management. An ASC-US Pap test

result is often triaged by HPV testing when using liquid-based cytology.

"Reflex HPV testing" is easily performed as a follow-up test by utilizing

residual cells from the liquid-based Pap test vial to test for the presence or

absence of high-risk HPV.

Non-modifiable risk factors include:

Family history of breast cancer in a first-degree relative (i.e., mother or

sister)

Prolonged exposure to estrogen, including menarche before age 12 or

menopause after age 45

Genetic predisposition (BRCA 1 or 2 mutation)

Advanced age (The incidence of breast cancer is significantly greater in

postmenopausal women, and age is often the only known risk factor.)

Female sex

Increased breast density

Other hormonal risk factors include:

Advanced age at first pregnancy

Exposure to diethylstilbestrol

Hormone therapy

 

Environmental factors include:

Therapeutic radiation

Obesity

Page 5: FM cases

Smoking, drinking alcohol

Factors associated with decreased breast cancer rates include:

Pregnancy at an early age

Late menarche

Early menopause

High parity

Use of some medications, such as selective estrogen receptor modulators

and, possibly, nonsteroidal anti-inflammatory agents and aspirin.

Osteoporosis – defined as a spinal or hip bone mineral density (BMD) of 2.5

standard deviations or more below the mean for healthy, young women (T-

score of −2.5 or below) as measured by dual energy x-ray absorptiometry

(DEXA).

prevenation: USPSTF is currently recommending against calcium and

vitamin D supplementation in healthy pre or post menopausal women. (b/c

calcium supplements increase risk of atherosclerotic vascular diseases &

kidney stones)

*** USPSTF recommends: increase intake of dairy and try to include weight

bearing exercises such as walking into a daily routine.

Screening:

>65 screening w/ dual energy x-ray abdosptiometry (DEXA) scan

<65 use fracture risk assessment tool to risk stratify – fracture risk must be

greater than or equal to that of a 65 y/o white woman

risk factors:

-low estrogen- early menopause, low BMI

-lack of physical activity

-inadequate calcium intake (think poor nutrition or alcoholism)

-fam hx of osteoporotic fx

-hx of previous fx as an adult

-dementia

-cigarette smoking

-white race

Osteopenia - defined as a spinal or hip BMD between 1 and 2.5 standard

deviations below the mean (T-score between -1 and -2.5).

Page 6: FM cases

Menopause

– avg age 51 must not menstruated for 12 months straight

- Perimenopause- still possible to get pregnant last 2-8years

Menopause symptoms:

-irregular period

- estrogen def hot flashes, vaginal dryness, mood swings (depression

common)

Treatment:

Hormone therapy [HT] – relieves symptoms and protects against

osteoporosis

Estrogen and progestin supplements: if you take estrogen alone, it causes

hyperplasia of endometrial tissue risk of endometrial cancer.

-progestin balances estrogen, therefore taken together (esp women w/ intact

uterus)

-progestin alone- prevents hot flashes

SE of HT: increase risk of breast cancer, heart disease, blood clots, stroke.

Breast cancer risk:

-Obesity

-1st degree relative= mom, sister

-prolong estrogen espousre= menarche before age 12, menopause after 45,

advanced age of 1st pregnancy

-genetic = BRCA 1 or 2 mutation

-advanced age= older you are, higher the risk

-increased breast densisty

-exposures to diethylstibestrol, hormone, radiation therapy, heavy smoking

Decrease risk of breast cancer:

-menopause before age 45 /early menopause = shortens expouse to

estrogen

-pregnancy at early age

-late menarche

-high parity

-meds eg: selective estrogen receptor modulators (SERM), NSAIDs, Aspirin

Page 7: FM cases

Total hystercetomy = total removal of uterus & cervix w/ or w/o

oophorectomy:

USPSTF - recommend AGAINST continued cervical cancer screening if

UTERUS is removed

Cervical cancer screnning:

-begin at 21yo

-65-70 w/ 3 or more normal Pap tests in past 10 years may choose to stop

screnning

Mammography:

-decreases breast cancer mortality

-biennial/every 2 years testing 50-74yo female [if no family history]

Gardasil vaccine against HPV type 6, 11, 16, 18 --> females 9-26yo

Cervarix vaccine against HPV 16,18, 31, 45 --> 10-25 yo

Gardasil and Cervarix - series of 3 shots

Gardasil Cervarix

quadravalent recombinant

DNA vaccine (HPV4)

bivalent vaccine

(HPV2)

HPV serotypes

protected against

6,11 (cause genital warts)

16 and 18 (cause most

cervical cancers)

16 and 18 (cause most

cervical cancers)

31 and 45

Licensed forfemales & males ages 9-26

yrsfemales 9-25 yrs

Number of doses 3 3

Timing

recommendation

before sexual debut or

shortly thereafter

before sexual debut or

shortly thereafter

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9/6/15 7:28 PM

Teen pregrenancy- infants at risks for:

Page 9: FM cases

-lower birth weight (secondary to pregnancy induced HTN)

-verticially acquired STI

-poorer developmental outcomes

-increased risk of fetal death

*teen mom at risk for premature death

Older age pregnancy- increased incidence of chromosomal abnormalities- Tri

21

Tobacco use in prego- increase risk for low birth weight

Elements of Routine Newborn Care

-Use universal precautions.

-Stabilize the infant's temperature via:

Skin-to-skin contact with the mother

Radiant warmer, or

Incubator.

-Obtain Apgar scores at 1 and 5 minutes post delivery.

Appearance (skin color)

Pulse (heart rate)

Grimace (reflex irritability)

Activity (muscle tone)

Respiration

A newborn receives a score of 0, 1, or 2 for each component, with the final

Apgar score ranging from 0 to 10.

Signs of respiratory distress in the newborn include:

Page 10: FM cases

-Apnea

-Poor respiratory effort

-Tachypnea (rapid respiratory rate): A normal newborn's respiratory rate will

be in the 30s to 50s.

-Nasal flaring

-Chest wall retractions: Retractions are observed when the skin over the

chest wall is "sucking in"; this is usually noted as intercostal (between the

ribs), suprasternal (above the sternum) or subcostal (below the ribcage)

retractions.

-Grunting; Grunting is a noise that is heard on expiration when an infant in

respiratory distress is working to keep his or her alveoli open to increase

oxygenation and/or ventilation.

The Ballard assessment tool uses signs of physical and neuromuscular

maturity to estimate gestational age.

This can be particularly helpful if there is no early prenatal ultrasound to help

confirm dates, or if the gestational age is in question because of uncertain

maternal dates.

Small for gestational age (SGA) = Weight below the 10th percentile for

gestational age

Microcephalic = Head circumference below the 10th percentile for

gestational age

Term = Born at > 37 weeks' gestation

Demonstration of Primitive Reflexes

Rooting

Newborn turns his head toward your finger when you touch his cheek.

Sucking

Newborn sucks on your finger when you touch the roof of his mouth.

Startle (Moro)

Page 11: FM cases

Support the newborn's head with one hand and buttocks with the other. With

the head in a midline position, the hand supporting it is quickly dropped to a

position approximately 10 cm below its original supporting position, and the

head is caught in its new position. In response, the newborn will flex his

thighs and knees, fan and then clench his fingers, with arms first thrown

outward and then brought together as though embracing something.

Palmar and Plantar Grasps 

Newborn grasps your finger when you stroke it against the palm of his hand

or plantar surface of his foot.

Asymmetrical Tonic Neck Response 

Turning the newborn's head to one side causes gradual extension of arm

toward direction of infant's gaze with contralateral arm flexion--like a fencer.

Stepping Response

Newborn's legs make a stepping motion when you hold him vertically above

the table and stroke the dorsum of his foot against the table edge.

TORCH:

T- toxoplasmosis

O- other eg: Hep B, Human parvovirus, Syphilis, HIV

R- Rubella

C- Cytomegalovirus

H- Herpes virus type 2

TORCH Infection Test

Hepatitis B Maternal hepatitis B surface antigen (HBsAg)

Rubella Maternal and infant rubella titer

Toxoplasma Infant toxoplasma titer

CMV Infant urine culture

Routine Newborn Medications

Vitamin K: Newborns must get IM injection of vitamin K to prevent

hemorrhagic disease of the newborn / vitamin K deficiency bleeding

Page 12: FM cases

Hepatitis B vaccine: hepatitis B vaccine at birth as part of the routine care

of all medically stable newborns weighing > 2000 grams. This is true for all

of these babies, regardless of maternal testing results.

Hepatitis B immunoglobulin (HBIG) is given only to newborns at risk for

vertical transmission of hepatitis B virus.

Erythromycin (also tetracycline or silver nitrate): One of these

antibiotics is administered topically specifically to prevent gonococcal

conjunctivitis (within 2-7days) Chlamydia trachomatis conjunctivitis in

newborns is more common than gonococcal, but chlamydia typically

occurs at 7–14 days after birth, and neonatal prophylaxis does little to

prevent chlamydia conjunctivitis.

CMV

-leading cause of congenital infection in US

-more than 90% asymptomatic and symptomatic varies in severity

- systems affected:

skin: petechiae, purpura, ecchymosis, jaundice

heptatobiliary: >2mg/dl direct bilirubin, elevated ALT,

Hepatomegaly

Hematopoietic: thrombocytopenia, anemia, splenomegaly

CNS: Microcephaly, intracranial calcifications on CT, poor feeding,

lethargy, seizures, increased CSF

Auditory: sensorineural hearing loss

Visual: Chorioretinitis

- “owl’s eyes” =Enlarged cells with intranuclear inclusion bodies

CMV – head CT shows:

- Intracranial calcifications (appear as bright areas)

- Diminished number of gyri & abnormally thick cortex aka lissencephaly or

agyria-pachygyria

- Enlarged ventricles

Page 13: FM cases

Antiviral meds: parenteral ganciclovir or oral valganciclovir

- drugs help to decrease progression of hearing impairment and diminished

developmental impairment in infants with congenital CMV infection and CNS

involvement

-Due to possible hematologic and other toxicities, use of these antivirals is

not routine, but is currently recommended in this cohort of infants if they are

able to start therapy within the first month of life.

Page 14: FM cases

Sequelae of Congenital CMV

Hearing loss In many infected infants, the onset of hearing

loss may be after the newborn period.

The loss is often progressive.

Even if the newborn hearing screen is normal,

an infant infected with CMV may develop

hearing loss and progress to severe-to-profound

bilateral hearing loss during the first year of life.

Microcephaly and

intracranial

calcifications

These findings are associated with an increased

risk of CNS sequelae of congenital CMV

infection, such as developmental delay.

Infants with congenital CMV must have ongoing

developmental assessments and may ultimately

demonstrate intellectual disabilities and/or

cerebral palsy.

Hepatosplenomegaly These nonneurological neonatal clinical

abnormalities can be expected to resolve

spontaneously within weeks.Rash

Page 15: FM cases

Newborn Screening:

1) Metabolic disorders:

-PKU

-Hypothyroidism

-galactosemia

-biotinidase deficiency

-hemoglobinopathy

-maple syrup urine diseases (MSUD)

-homocystinuria

-congenital adrenal hyperplasia

-cystic fibrosis

-G6PD def

-Toxoplasmosis

2) Congenital deafness

3) Congenital heart defects – by measuring transcutaneous oxygen

saturation

Mom w/ seizures using anticonvulsants during pregnancy baby at risk for:

-cardiac defects

-dysmorphic craniofacial features

-hypoplastic nails and distal phalanges

-IUGR

-Microcephaly

-mental retardation

-methemoglobinuria

Page 16: FM cases

Red reflex: normal reddish-orange reflection of light from eye’s retina

observed w/ ophthalmoscope

-absent red reflex – indicats congenital cataracts or retinoblastoma

Chorioretinitis – congenital toxoplasmosis and CMV infection

Ewing’s sarcoma, medulloblastoma, Neuroblastoma : Small round blue cells

with dense nuclei forming small rosettes.

--Neuroblastoma: baby version of pheochromcytoma, elevated urinary

HVA/VMA, large heterogeneous mass with scant calcifications on CT, bone

marrow biopsy will show small round blue cells w/ dense nuclei forming small

rosettes.

Fetal alcohol syndrome : smooth philtrum, thinning of the upper lip, and

small palpebral fissures + SGA

Congenital rubella presents with sensorineural deafness, eye abnormalities

(retinopathy, cataracts), and patent ductus arteriosus.

Symptomatic congenital CMV infection presents with microcephaly, jaundice,

hepatosplenomegaly, low birth weight, and petechiae at birth.

phenylketonuria (PKU), an autosomal recessive disorder of amino

acid metabolism caused by a deficiency in the enzyme phenylalanine

hydroxylase. Affected infants are normally detected by newborn

screening, but can present with vomiting, hypotonia, musty odor,

developmental delay, and decreased pigmentation of the hair and

eyes. The best developmental outcomes occur if a phenylalanine-

restricted diet is initiated in infancy.

Page 17: FM cases

defect in cystathionine synthase occurs in homocystinuria, a disorder of

amino acid metabolism. Homocystinuria is inherited in an autosomal

recessive pattern. Individuals display Marfanoid body habitus, a

hypercoaguable state, and possible developmental delay. The condition can

be diagnosed by testing for increased methionine in a patient’s urine or

blood.

defect in sphingomyelinase occurs in Niemann-Pick disease, a lysosomal

storage disease. Children present by six months of age with hepatomegaly,

ataxia, seizures, and progressive neurologic degeneration. Fundoscopic

exam reveals a “cherry-red” macula.

defect in alpha-L-iduronidase occurs in Hurler syndrome, a type of autosomal

recessive lysosomal storage disease. Children typically do not display

symptoms until one year of age. Symptoms include hepatosplenomegaly,

coarse facial features, frontal bossing, corneal clouding, and developmental

delay. Affected individuals typically do not live past fifteen years old.

defect in glucose-6-phosphatase occurs in Von Gierke’s disease, a glycogen

storage disease. Von Gierke’s disease is inherited in an autosomal recessive

pattern. Individuals present with hypoglycemia, hepatomegaly, and

metabolic acidosis.

Opiate:

-use in pregnancy, baby will have:

CNS findings (irritability, hyperactivity, hypertonicity, incessant

high-pitched cry, tremors, seizures)

GI symptoms (vomiting, diarrhea, weight loss, poor feeding,

incessant hunger, excessive salivation)

respiratory findings (including nasal stuffiness, sneezing, and

yawning).

Cocaine:

- use in pregnancy, baby affected later in life : poor cognitive performance,

information processing, attention to tasks

Page 18: FM cases

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