Primary Care 2 Exam 2

Name types of Lymphocytes

T cells, B cells, Natural Killer Cells, Phagocytes (neutrophils, monocytes, macrophages)

what are soluble mediators

attracted to areas of inflammation by chemo attractants that adhere to bacterial surfaces

Indicators of an intrinsic defect of the immune system

4-8+ AOM episodes, 2+ serious sinus infection or PNAs, poor weight gain, family history, difficult to treat infections

Function of T cells

defend against intracellular pathogens (viruses, fungi, listeria), delayed hypersensitivity reactions, assists in B cell maturation, tumor surveillance and graft vs host disease

T cell defects warning signs

persistent or prolonged viral infection, infection without pneumocystis jirovecii, bacterial superinfection

what is SCID

severe combined immune deficiency, most common genotypes identified on NB screen

Management of SCID

Pneumocystis and fungal prophy, isolation, immunoglobulin replacement, stem cell transplant

What is ataxia telangiectasia

genetic defect that prevents ability to repair damaged DNA

characteristics of ataxia telangiectasia

IgA deficiency, leukopenia, T cell dysfunction

management of ataxia telangiectasia

immunoglobin therapy, betamethasone to slow features, no cure, progressive, few survive to 40

Wiskott Aldrich syndrome

X linked disease where you are unable to produce responses to polysaccharide antigens, susceptible to strep pneumoniae

clinical manifestations of wiskott aldrich syndrome

range in severity, recurrent infections, thrombocytopenia, eczema

management of wiskott aldrich syndrome

supportive, hematopoietic stem cell transplant, gene therapy

22 q 11.2 deletion syndrome

TbX1 haploinsufficiency, most common T cell disorder

Manifestations of 22q11.2 deletion syndrome

hypoparathyroidism, cardiac out flow abnormalities, rotation of the ears, micrognathia, thymus abnormality

what does hypoparathyroidism cause

causes neonatal tetany from hypocalcemia

DiGeorge Syndrome

triad of cardiac anomaly, hypoparathyroidism, and hypoplastic thymus

Function of B cells

produce antibodies to protein or carbohydrate antigen from microorganisms, toxins, and harmful antigenic substances

B Cell defect manifestations

absences of tonsils, recurrent sinus infections, infections that cannot be explained by allergies

What does IgM do

first to respond, activates complement system, facilitates phagocytosis of microorganisms, independent of T cell function

What does IgG

provides immune memory, passes via placenta to baby

what does IgA do

transports across mucous membranes, mucosal protection

What does IgE do

allergic reactions and parasite defense

what is x-linked agammaglobulinemia

defect in BTK gene preventing development of B cell precursors, detected after maternal antibodies disappear

Treatment for X-Linked agammaglobulinemia

monthly immunoglobulin administration, monitoring for infection and early treatment

characteristics of x-linked agammaglobulinemia

absent immunoglobulins in all classes, absence of mature B cells, T lymphocytes of normal, significant history

infections of x linked agammaglobulinemia are caused by

S pneumoniae, N meningitidis, H, influenzae, enterovirus, GI infections

What are class switch defects

increased IgM, decreased IgG and IgA, recurrent infections, may have neutropenia

IgA Deficiency

most common immunodeficiency, IgA concentration greater than 5 mg/dL, T/B cells normal, recurrent GI infection

Treatment of IgA deficiency

supportive, management of allergies, autoimmune disease, infection, prophy abx if needed

Common variable immune deficiency (CVID)

decreased IgG and at least one other isotype, typical onset 15-40 years

Manifestations of CVID

sinopulmonary infections, chronic diarrhea, may have malabsorption disorders, risk for autoimmune disease, hepatitis, GI malignancy

management of CVID

immunoglobulin replacement therapy, management of infection and complications

Neutrophils function

neutrophils adhere to endothelial cells, defend against extracellular bacterial invasion, responds to opsonin

manifestations of phagocyte defects

skin/soft tissue infections, pneumonia

what is neutropenia

ANC <1500, especially concerning if <500

congenital neutropenia

presents with sepsis or septic shock, risk for leukemia, associated with Schwachman diamond syndrome and glycogen disease

acquired neutropenia

bone marrow suppression, severe burns, increased destruction, vitamin B12/folate deficiency, viral infections

manifestations of Schwachman diamond syndrome

exocrine pancreatic insufficiency, rib abnormalities, short stature, bone marrow dysfunction, managed with G-CSF

What is chronic granulomatous disease

X-linked or autosomal recessive disorder where neutrophils can’t kill bacteria

treatment for chronic granulomatous disease

funal and pneumocystis prophy, HSCT treatment in childhood

Hyper IgE syndrome manifestations

recurrent serious infections (abscesses, AOM, bronchitis), eczematoid dermatitis in infancy

management of hyper IgE syndrome

eczema control, prophy pneumocystis coverage with trimethoprim sulfamethoxazole, immunoglobulin replacement, antifungal and infection treatment as necessary

Systemic Lupus Erythematosus

altered immune regulation of autoantibodies

clinical features of systemic lupus erythematosus

butterfly or malar facial rash, abrupt or gradual onset, fever, rash, fatigue, joint pain typical in children

history of systemic lupus erythematosus

joint involvement, fever, rash, proteinuria, seizures, anemia, pleuritis, pericarditis

Physical examination of systemic lupus erythematosus

pallor, malar rash, oral ulcerations, gingivitis, joint tenderness, cardiac friction rub, pleural fraction rub, hepatosplenomegaly

diagnostic systemic lupus

CBC, ANA, ESR, CRP, CMP, UA, antibody testing

pharmacological management for systemic lupus

NSAIDs, oral steroids, antimalarial drugs, immunosuppressants, vitamin D/calcium

Fibromyalgia syndrome

chronic idiopathic syndrome with diffuse musculoskeletal pain and fatigue

history of fibromyalgia

pain, fatigue, malaise, paresthesia, insomnia, depression, school absence

physical examination of fibromyalgia

pressure causing pain at sites, linear pattern, no evidence of arthritis

management of fibromyalgia

PT, gabapentin, muscle strengthening

Clinical findings of chronic fatigue syndrome

unexplained severe debilitating fatigue for more than 6 months, must have more than 4 of the following: sore throat, myalgia, HAs, unrefreshing sleep impaired memory

what is femoral anteversion

Rotation of the head and neck of femur causing in-toeing gait

clinical findings of femoral anteversion

positive family history, twice as common in girls, noticeable with running, stumbles over feet, W sitting, limited external rotation, medial rotation of knees when standing, kissing patellas

Management of femoral anteversion

observation, rotation often decreases over time, orthopedic referral, night splinting, twister cables, shoe modifications, osteotomy rarely necessary

physiologic Genu Varum

normal developmental variation up to age 3 years

lateral bowing of bilateral tibias

metaphyseal diaphyseal angle <11 degrees

Normative angles of Genu Varu

up to 15 degrees in infants

neutral angle at 18 months

12 degrees between age 2-3 years

pathologic Genu Varum

abnormal development

above 15 degrees, no reduction after age 2 years, quickly worsening, may occur with Salter fracture, rickets, neurologic issues, or infection

Blount Disease

pathologic form of genu varum

abnormal growth of the medial aspect of the proximal tibial epiphysis causing increasing angulation

over 11 degrees

common in AA, obese children, early walkers

possible family history

PE of Genu Varum

tibiofemoral angle >16 degrees, check length discrepancies, measure intercondylar distance with ankles together (>4-5 inches), assess joint laxity of lateral collateral ligaments

management of physiologic genu varum

self resolving, reassurance, education, monitor quarterly

management of pathologic genu varum

refer to ortho, positive family history, lower extremity asymmetry, abnormal gait, worsening varus angle

treatment of Blount disease

bracing < 3 years of age

surgical interventions >4 years of age

Assessment of Genu Valgum (knock knees)

most notable between ages 3-4 years old, resolves by 4-6 years of age

Pathologic causes of genu valgum

rickets, renal osteodystrophy, skeletal dysplasia, tumors, infection

History of Genu Valgum

deformity progression, rigid gait, joint discomfort, knee pain in older children

physical assessment in Genu Valgum

>15 degree valgus angle, unilateral valgus, abnormal gait, subluxation patella, >3 inch between ankles with knees together, short stature

Management of Genu Valgum

for ages 10 and under, observation and reassurance, treat underlying condition followed by potential surgical intervention

characteristics of Internal tibial torsion

also called medial tibial torsion, most common cause of in-toeing in children age 2, can begin around 6-12 months of age, related to positioning in-utero, resolves by age 8

what is internal tibial torsion

abnormal rotation of the tibia that results in in-toeing of the feet

external tibial torsion

called lateral tibial torsion, abnormal external rotation of the tibia that causes out-toeing of the feet, acquired deformity r/t IT band contracture

Clinical findings of tibial torsion

thigh foot angle (TFA) 10-20 degrees indicates internal tibial torsion

TFA >30 indicates external tibial torsion

Management of tibial torsion

refer if internal TFA >20 by age 3 or if external >30

How to check TFA (thigh foot angle)

child lays face down with their knees bent at 90 degrees, then measure the angle of the thigh and foot

three types of pes planus

flexible flatfoot, rigid flatfoot, flexible flatfoot with tendon achilles contracture

What is flexible flatfoot

common in infants and young children

improves by age 3 spontaneously, hereditary

when fat pad in arch gives impression that it’s flat

etiology of pes planus

flat feet in conditions like down syndrome, marfan syndrome, CP, obesity

clinical findings of pes planus

painless, asymptomatic, inner aspect of shoes worn, arch flattens upon standing, but visible when nonweight bearing

management for pes planus

arch support, stretching

conditions resulting in in-toeing

clubfeet, internal tibial torsion, internal femoral torsion, adducted great toe

Conditions resulting in out-toeing

external tibial torsion, lateral femoral torsion, physiologic genu varum

epidemiology for leg aches of childhood

occurs between 3-12 years of age, effects 2/3 of peds patients, subsides by late childhood, may be associated with overuse syndrome or low vitamin D levels

Antalgic limp

tries to avoid discomfort by only briefly touching the ground with the affected side

Trendelenburg gait/ Abductor Lurch

tilting over affected hip to reduce mechanical load, hip issues related to developmental, congenital, or muscular disorders

Equinus toe to heel gait

unsteady wide based gait, neurologic incoordination

Circumduction gait

longer leg moves forward in swinging motion, leg-length inequality or knee or ankle rigidity

Clinical findings of Muscular Dystrophies

symptoms begin at 2-6 years old, motor milestones not met, exertional fatigue, family history

Muscular dystrophy physical examination

tow walking, strong calf muscles, muscles are fibrotic or doughy, lordotic stance, gluteal muscle atrophy, gower sign

Duchenne Muscular Dystrophy

most prevalent, well defined calves incapable of hopping, CK 10-20 x normal by age 2, muscle breakdown which elevates LFTs, incurable, supportive cares

muscular dystrophies management

long term oral steroids can help delay motor defect progression, PT, bracing, psychosocial support, surgical procedures

What causes popliteal cysts (baker cysts)

herniation of the synovial membrane through the joint capsule or from movement of fluid through a normal communication of bursa

appearance of popliteal cysts

painful or painless swelling behind the knee, cyst located at or below the joint line

management of popliteal cysts

observation, self limiting, resolves in 10-20 months, surgical incision if symptoms are severe

red flags for back pain

younger than age 4, activity interference, hx of trauma, gait disturbance, muscle weakness, worsening discomfort, fever, weight loss, fatigue

differential causes of back pain

mechanical: associated with physical activity

inflammatory: associated with extended rest or awaking with stiffness

Scoliosis

lateral curvature of the spine of more than 10 degrees using the Cobb method

nonstructural scoliosis

functional scoliosis, reversible curve without vertebral rotation, stems from poor posture

structural scoliosis

rotation of the spine, fixed deformity that does not correct with positional changes