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Recommended treatment for RSV in a 7 month old (outpatient)
Use of saline drops and suctioning of the nares. Indications of when to use antipyretics. Signs of respiratory distress or dehydration. Guidelines for feeding an infant with signs of mild respiratory distress which includes smaller more frequent feedings; monitoring of the respiratory rate; and guarding against vomiting. The parents should be educated that the child may have the symptoms over the course of 2-3 weeks
Epiglottitis s/s
Acute and rapid onset of high fever, chills, and toxicity. Severe sore throat and drooling saliva. Will not eat or drink, muffled (hot potato) voice, and anxiety. Sitting posture with hyperextended neck with open-mouth breathing. Stridor, tachycardia, and tachypnea
Epiglottitis prevention
Haemophilus influenzae type B (Hib) vaccine
Steeple sign
a radiologic sign found on radiograph where the subglottic tracheal narrowing produces a shape of a church steeple which supports a diagnosis of croup
Foreign body aspiration antibiotic?
Depends on the nature of the material aspirated, plus the location and degree of obstruction. Bronchial or laryngeal foreign body aspiration, a bronchoscopy must be performed for removal of the foreign body
Antibiotics for bronchiolitis?
Use of saline drops and suctioning of the nares. There is no evidence to support the routine use of antibiotics
Antibiotics for croup?
Nebulized epinephrine, corticosteroids (dexamethasone oral or IM), blow by oxygen or heliox in severe croup. Racemic epinephrine with the use of corticosteroids to limit rebound swelling
Antibiotics for epiglottitis?
Establish an airway preferably by nasotracheal intubation. Administer IV antibiotics such as rocephin to cover H.influenzae. Administer oxygen and respiratory support. Antibiotics should be continued for 10 days. Rifampin prophylaxis 20 mg/kg in a single dose (maximum of 600 mg) for 4 days for infants and children, 600 mg once a day for adults for 4 days. Should be provided for household contacts who are at risk (Younger than 4 years old who is non-immunized or incompletely immunized, children less than 12 months who have not received primary series of Hib, and immunocompromised children.
Asthma treatment
The pharmacological management of asthma in children is based on the severity of asthma and the child's age. After initial control, decrease treatment to the least amount of medication needed to maintain control. Systemic corticosteroids may be needed at any time and stepped up if there is a major flare-up of symptoms.
Step 1 Asthma management for children 0-4 years old
Step 1: SABA (Short acting beta2-agonist) PRN: With viral respiratory symptoms short acting beta 2-agonist should be used every 4-6 hours up to 24 hours (longer with a physician consult). Consider short course of oral systemic corticosteroids if severe exacerbation. Frequent use of SABA may indicate the need to step up treatment
Step 2 Asthma management for children 0-4 years old
Step 2: Consider consultation with asthma specialist. Low dose of inhaled corticosteroids.
Step 3 asthma mgmt for children 0-4 yrs
Step 3: Medium-dose of inhaled corticosteroids
Steps 4-6 asthma mgmt for children 0-4 yrs
Step 4: Medium-dose ICS and Long acting beta2-agonist or montelukast.
Step 5: High dose ICS and Long acting beta 2-agonist or montelukast.
Step 6: High dose of ICS and LABA or montelukast and oral corticosteroids
Steps 1-3 asthma mgmt for children 5-11 yrs
Step 1: SABA (Short acting beta 2-agonist) PRN: Increasing the use of short-acting beta 2-agonist or use greater than 2 days a week for symptom relief generally indicates inadequate control and the need to step up treatment.
Step 2: Consider consultation with asthma specialist. Low dose of inhaled corticosteroids.
Step 3: Low dose of inhaled corticosteroid and LABA. Or medium dose of inhaled corticosteroids.
Steps 4-6 asthma mgmt for children 5-11 yrs
Step 4: Medium-dose ICS and LABA or medium dose of inhaled corticosteroid and leukotriene receptor antagonist or theophylline. .
Step 5: High dose ICS and LABA or high dose of inhaled corticosteroid and leukotriene receptor antagonist or theophylline. .
Step 6: High dose of ICS and LABA and oral corticosteroids or high dose of inhaled corticosteroids and leukotriene receptor antagonist or theophylline and oral corticosteroids.
** Theophylline levels must be monitored.
Differentials for patient with sore throat
Strep pharyngitis
Peritonsillar abscess
Viral pharyngitis
Infectious mononucleosis
Epiglottitis
small-for-gestational-age infants: which type of chromosomal analysis should be included?
Trisomy 18
Holt-Olram
Trisomy 13
Turner Syndrome
Trisomy 21
Prader-Willi Syndrome
heart defects associated with Down syndrome
Atrioventricular Septal Defect
Ventricular Septal Defect
Persistant Ductus Arteriosus
Tetrology of Fallot
Contact sports with Down's Syndrome
Do not recommend due to atlantoaxial instability
Diagnosing Down Syndrome
Usually identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. Because these features may be present in other babies, a chromosomal analysis called a karyotype is done to confirm the diagnosis. To obtain a karyotype, doctors draw a blood sample to examine the baby's cells. They photograph the chromosomes and then group them by size, number, and shape. By examining the karyotype, doctors can diagnose. Another genetic test called FISH can apply similar principles and confirm a diagnosis in a shorter amount of time
Diagnosing Trisomy 18 (Edwards Syndrome)
A sample of the baby's dna is extracted from a blood sample or other bodily cells or tissue and is cultured to examine a picture of the chromosomes called a karyotype. In order to get this picture, the chromosomes are isolated, stained, and examined under the microscope. Most often, this is done using the chromosomes in the white blood cells. A picture of the chromosomes is taken through the microscope. A visible extra 18th chromosome confirms a Trisomy 18 diagnosis
Diagnosing Holt-Oram Syndrome
A diagnosis may be suspected when a person is found to have changes in the way the bones of the wrist and other bones of the upper limb are formed. The diagnosis can be confirmed if a person has specific bone changes and a personal or family history of an atrial septal defect, ventricular septal defect, or cardiac conduction disease. In order to establish the diagnosis, a doctor may order tests including an x-ray of the hands, wrists, and arms, a echocardiogram, and an electrocardiogram. The diagnosis may also be confirmed with genetic testing of the TBX5 gene
Diagnosing Trisomy 13
Parents who are at risk to have a translocation due to their family history can have a blood test called a karyotype, which can determine if a translocation is present.
Prenatal testing or screening is also available to determine if a current pregnancy is at risk for chromosome disorders.
People with a family history who are interested in learning about genetic screening or testing for themselves or family members are encouraged speak with a genetic counselor or other genetics professional.
Diagnosing Turner Syndrome
A diagnosis may be suspected when there are a number of typical physical features observed such as webbed neck, a broad chest and widely spaced nipples. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet.
This can be confirmed by prenatal testing to obtain cells from the unborn baby for chromosomal analysis. If a diagnosis is confirmed prenatally, the baby may be under the care of a specialist pediatrician immediately after birth
Diagnosis is confirmed by a blood test, called a karyotype. This is used to analyze the chromosomal composition of the female
Fragile X Syndrome (Martin-Bell Syndrome)
a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
Affected individuals usually have delayed development of speech and language by age 2, mild to moderate intellectual disability, about one-third of affected females are intellectually disabled. May also have anxiety and hyperactive behavior such as fidgeting or impulsive actions, (ADD), features of autism spectrum disorder that affect communication and social interaction, seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.
Most males and about half of females have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty
Klinefelter syndrome
Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms vary among boys and men with this condition. Boys and men typically have primary testicular insufficiency. Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, gynecomastia, decreased muscle mass, decreased bone density, a reduced amount of facial and body hair, and infertility. Some also have differences in their genitalia, including cryptorchidism, hypospadias, or a micropenis.
Children may have hypotonia and problems with coordination that may delay the development of motor skills, such as sitting, standing, and walking. Boys and men tend to have better receptive language skills than expressive language skills and may have difficulty communicating and expressing themselves.
Individuals tend to have anxiety, depression, impaired social skills, behavioral problems such as emotional immaturity and impulsivity, attention deficit hyperactivity disorder (ADHD), and limited problem-solving skills (executive functioning). About 10 percent of boys and men have autism spectrum disorder.
Triple X Syndrome
Characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females have normal sexual development and are able to conceive children.
Associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills, hypotonia, and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females.
XYY syndrome
A rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y chromosome. However, individuals with this syndrome have one X and two Y chromosomes. Affected individuals are usually very tall. Many experience severe acne during adolescence. Additional symptoms may include learning disabilities and behavioral problems such as impulsivity. Intelligence is usually in the normal range, although IQ is on average 10-15 points lower than siblings.
diet for cystic fibrosis patients
High calorie with added salt
A child has not received abx for a bacterial respiratory infection, what would you treat them with?
Amoxicillin
A 7-month old presents with 1-day cough, yellow sinus drainage and a low grade temp, treatment options?
Tylenol and monitor
A 3 yr old presents with wheezing for past 3 months, what tests would you order?
Spirometry
RSV symptoms in 6 wk old infant
In very young infants (less than 6 months old), the only symptoms of RSV infection may be:
irritability
decreased activity
decreased appetite
apnea (pauses while breathing)
Fever may not always occur with RSV infections
Rhinovirus symptoms in 6 wk old infant
The first indication of the common cold in a baby is often:
A congested or runny nose
Nasal discharge that may be clear at first but might thicken and turn yellow or green
Other signs and symptoms of a common cold in a baby may include:
Fever
Sneezing
Coughing
Decreased appetite
Irritability
Difficulty sleeping
Trouble nursing or taking a bottle due to nasal congestion
Streptococcus pneumonia in 6 wk old infant
Pneumonia in infants aged three weeks to three months is most often bacterial; Streptococcus pneumoniae is the most common pathogen
Listeria in 6 wk old infant
Listeriosis is caused by an infection with the bacterium Listeria monocytogenes . These bacteria can be carried by many animals and birds, and they have been found in soil, water, sewage, and animal feed. Listeriosis is considered a food-borne illness because most people are probably infected after eating food contaminated with Listeria monocytogenes
When a full-term baby becomes infected with Listeria during childbirth, that situation is called late-onset disease. Commonly, symptoms of late-onset listeriosis appear about two weeks after birth. Babies with late-term disease typically have meningitis; yet they have a better chance of surviving than those with early-onset disease
Listeriosis is treated with the antibiotics ampicillin or sulfamethoxazole-trimethoprim
Chlamydia trichomonas in 6 wk old infant
5 to 30% of infected neonates will develop pneumonia. Approximately half of these infants will have a history of C. Trachomatis conjunctivitis.
The condition is generally recognized between 4 and 12 weeks of age, although most infants are symptomatic as early as 8 weeks of age.
Cough and nasal congestion without discharge are common, although discharge can be thick.
Onset is insidious and characteristic features include a staccato cough, tachypnea.
Rales is common upon auscultation, but wheezing is not.
The liver and spleen may be palpable secondary to hyperinflated lungs.
The patient is usually afebrile, and does not appear particularly ill.
WBC is normal, but eosinophils can be elevated.
Arterial blood gas shows moderate hypoxemia.
Chest X-ray shows hyperinflation with bilateral, symmetrical interstitial infiltrates
2-year-old girl with increased work of breathing had a fever, abdominal pain, post-tussive emesis and no diarrhea. What lab test would be beneficial?
Rapid flu test, respiratory viral panel
Reactive Airway Disease (Asthma) symptoms
Most asthma flare-ups start slowly. You may notice small changes in your child's body before a flare-up. Changes include:
Runny or stuffy nose
Sneezing
Itchy or watery eyes
Itchy or sore throat
Tiredness
If you notice your child doing any of these things, start rescue medicine:
First signs of a cold
Wheezing
Noisy breathing
Chest tightness
Fast breathing
Coughing
For very young children, grunting during sucking or feeding, fussiness, or unusual tiredness
Sinusitis symptoms
The following are the most common symptoms of sinusitis:
Stuffy nose
Thick, colored drainage in the nose
Drainage down the back of the throat (postnasal drainage)
Headache
Cough
Pain or soreness over sinuses
Fever
Loss of smell
Bronchiolitis symptoms
Bronchiolitis may at first be mistaken for a common cold. It starts out with many of the same symptoms. But your child may have a cough and other breathing problems that get worse over time. Below are the most common symptoms of bronchiolitis:
Runny nose
Congestion
Fever
Cough
Fast or hard breathing
Wheezing
Loss of appetite
Irritability
Vomiting
These symptoms often last about a week.
Foreign body aspiration symptoms
Classic triad of cough, wheezing, and diminished breath sounds may not be present.
Patients often have an episode of choking and prolonged coughing, but symptoms may cease as the cough reflex is exhausted and/or the object lodges in a bronchus
Dyspnea
Neck or throat pain
Stridor and hoarseness may occur if object is lodged in upper airway (uncommon)
Asymmetric breath sounds
Tachypnea
Nasal flaring
Cyanosis
It is important to ask caregiver about the possibility of foreign body aspiration since patient's symptoms may resolve and imaging may be unremarkable
Mycoplasma pneumoniae (Walking pneumonia) symptoms
Fever, which can be high, but is usually low grade
Fatigue
Headache
Skin rash
General feeling of sickness
Cough, particularly one that progresses from a dry cough to a productive cough
Ear infections
Croup
Sinus infection
Sore throat
Bronchitis symptoms
Symptoms may include:
Runny nose, usually before a cough starts
Malaise
Chills
Slight fever
Back and muscle pain
Wheezing
Sore throat
In the earlier stages of the condition, children may experience a dry, nonproductive cough which progresses later to an abundant mucus-filled cough. Younger children may have some vomiting or gagging with the cough. The symptoms of bronchitis usually last seven to 14 days, but may also persist for three to four weeks
Respiratory Syncytial Virus (RSV) symptoms
The most common symptoms of RSV include:
Runny nose
Fever
Cough
Short periods without breathing (apnea)
Trouble eating, drinking, or swallowing
Wheezing
Flaring of the nostrils or straining of the chest or stomach while breathing
Breathing faster than usual, or trouble breathing
Turning blue around the lips and fingertips
Upper Respiratory Infection Symptoms
A cold affects the nose and throat. Symptoms usually start slowly and include:
runny or stuffy nose
sneezing
cough
sore throat
It may take 3 to 14 days for your child to get well. Usually, your child can do all of his or her normal activities
Peritonsillar abscess
As the infection progresses, the duct to the surface of the tonsil becomes progressively more obstructed from surrounding inflammation. The resulting tissue necrosis and pus formation produce the classic signs and symptoms of peritonsillar abscess
Patients with peritonsillar abscess appear ill and present with fever, malaise, sore throat, dysphagia, or otalgia. The throat pain is markedly more severe on the affected side and is often referred to the ear on the same side. Physical examination usually reveals trismus, with the patient having difficulty opening his or her mouth because of pain from inflammation and spasm of masticator muscles. Swallowing is also highly painful, resulting in pooling of saliva or drooling. Patients often speak in a muffled voice "hot potato voice". Markedly tender cervical lymphadenitis may be palpated on the affected side.
Death can occur from airway obstruction, aspiration, or hemorrhage from erosion or septic necrosis into the carotid sheath
Symptoms most suggestive of pneumonia
Bacterial pneumonia tend to happen suddenly with these symptoms:
Cough that produces mucus
Cough pain
Vomiting or diarrhea
Loss of appetite
Tiredness (fatigue)
Fever
Early symptoms of viral pneumonia are the same as those of bacterial pneumonia. But with viral pneumonia, the breathing problems happen slowly. Viral pneumonia may make a child more at risk for bacterial pneumonia.
In addition to the symptoms listed above, your child may have:
Chills
Fast or hard breathing
Headache
Fussiness
Diet and treatment for RSV
Fluids and tylenol
Which child should not receive a TB skin test?
One that has had a severe reaction to a previous PPD
Which of the following patients least warrants a sweat chloride test?
4-year-old female with nocturnal cough, which resolves after treatment with bronchodilators and short-term steroids; growth parameters at 10% for age.
Lung sounds with cystic fibrosis
Cystic fibrosis typically presents with rhonchi and/or crackles. Their wheezes may sound more congested due to the buildup of mucous in their bronchioles.
Lung sounds with asthma
Wheezing can be a symptom of asthma where a combination of swelling, mucus and muscles tightening can cause narrowing of the airways
Lung sounds with foreign body aspiration
If it causes airway occlusion it may lead to asphyxia and it is unfortunately a leading cause of death in childhood. However, it more often presents with a history of an initial episode of choking and coughing with subsequent respiratory symptoms. These include cough, wheeze, stridor, or pneumonia. The most common physical sign is decreased or abnormal breath sounds
Lung sounds with croup
Stridor is a harsh, raspy tight sound best heard with breathing in
Loud or constant stridor means severe croup. So does stridor at rest (when not crying or coughing).
All stridor needs to be treated with warm mist
Radiographic signs of croup
steeple sign (also known as "wine bottle sign"): seen on AP radiographs of the neck or chest and neck demonstrates uniform narrowing of the subglottic airway
Most common congential heart defect in children
Ventricular septal defect
Chest pain in children
anxiety is the most frequent cause of chest pain in children; costochondritis
Innocent heart mumurs
Grade 1 murmurs are barely audible; grade 2 murmurs are faint but can be heard immediately; grade 3 murmurs can be heard easily and are moderately loud
best heard at the LLSB and is vibratory or blowing and does not radiate
Most useful test of acute rheumatic fever
Streptococcal serology is most helpful in the diagnosis of ARF because of the delayed nature of the disease following GAS infection. Antibody titers are elevated, while culture or detection of the organism is usually no longer possible by the time ARF presents
Testing children with hypercholesteremia
Lower LDL cut points are proposed for initiation of treatment, depending on risk level
All children should be screened for cholesterol at least once between ages 9-11 years.
Screening should begin as early as 2 years for those with family history of premature cardiovascular disease
Who is most diagnosed with Kawasaki Disease?
Children of Japanese descent <5 years old
The essential test for managing Kawasaki Disease
Erythrocyte Sedimentation Rate
Physical findings in infant with Down's Syndrome
Brachycephaly
Gap between first and second toes
Loose skin on nape of neck
Hyperflexibility
Low set ears, folded, stenotic meatus
Protruding tongue secondary to small palate
Flat nasal bridge
Muscular hypotonia
Epicanthal folds
Brushfield spots (ring of iris speckles)
Short fifth finger
In-curved fifth finger
Short, broad hands
High arched palate
Single palmar crease
Congential heart defect
Transient myelodysplasia of the newborn
Duodenal atresia
Lab test should be done every year with a child with down syndrome
TSH
Physical signs of fragile x syndrome in adolescents
long face, large prominent ears, flat feet
hyperextensible joints, especially fingers
low muscle tone
males may have large testes after puberty
Type 1 diabetes mellitus
diabetes in which there is no beta cell production of insulin--the patient is dependent on insulin for survival
Type 2 diabetes mellitus
a result of the body's inability to make enough, or to properly use, insulin. May be controlled with diet, exercise, and weight loss, but it may also require oral or injected medication and/or insulin injections
Type 1 with HgbA1c of 14.9 what does this indicate?
Glucose has not been well controlled over the last 3 months
A 5-year-old with type 1 diabetes and management of the insulin requirement
Children with newly diagnosed type 1 diabetes usually require an initial total daily dose of ∼0.5-1.0 units/kg. In general, younger (and prepubertal) children require lower doses while the presence of ketoacidosis, use of steroids, and the hormonal changes of puberty all dictate higher doses
It is common for a newly diagnosed child's diabetes to enter a honeymoon phase with an increase in insulin production within several weeks after the initiation of insulin therapy. During this phase of diabetes, insulin requirements may fall well below the initial dose of 0.5-1.0 units/kg per day needed to maintain blood glucose targets. Children may require only minimal amounts of intermediate- or long-acting insulin, possibly combined with small amounts of rapid- or short-acting insulin. β-cell destruction continues during this honeymoon phase, and with the progressive loss of β-cell function, there is need for increased exogenous insulin to avoid elevated blood glucose levels
Physical findings of a teenager that might show that she has type 2 diabetes
Overweight
Yeast infections
Pseudoacanthosis nigricans
What does shift to the left mean in a white blood cell count?
a phrase used to note that there are a high number of young, immature white blood cells present (granulocytes). Bands or immature neutrophils are greater than mature or segmented neutrophils a left shift occurs. Most commonly, this means that there is an infection, leukemia or inflammation present and the bone marrow is producing more WBC's and releasing them into the blood before they are fully mature
What sort of labs would you draw for a patient with microcytic hypochromic anemia?
Iron, ferritin, TIBC, reticulocyte count, iron saturation %
Regarding measles, mumps, and rubella, what type of immunity would their mother have or not?
Active immunity
6-month-old with newly diagnosed sickle cell disease, what should you do on the visit of a well-baby visit?
Educate regarding risk of infection due to asplenia and need to seek medical attention promptly for eval of febrile illness. If febrile, immediate referral for blood culture and empiric abx against s.pneumo and Hib.
Prevention is key! Factors that may precipitate events: dehydration, hypoxia, fever, exposure to extreme temps; how to manage pain; how to recognize signs of serious prob.
Anticipatory guidance regarding developmental issues such as toilet training, school attendance, delayed growth & development
Examination of a 9-month-old with a palpable right supraclavicular node. What does this possibly indicate?
Suspect malignancy or TB if supraclavicular nodes are palpated
A 5-year-old with acute lymphocytic leukemia. What is he at risk for developing?
Bleeding febrile neutropenia
When should you start screening infants for anemia?
12 months
A male who is complaining of breast tissue enlargement, how would you treat that?
Usually, no treatment is needed. Most cases of gynecomastia lessen with time. However, if a medical condition is causing gynecomastia, medications may need to be given. If a medication is the cause, your doctor may tell you to stop taking it or may prescribe a different medication. Your doctor may suggest seeing an endocrinologist. Surgery is usually not recommended unless the gynecomastia is causing severe pain and tenderness or embarrassment
If you do have a male who has gynecomastia what else should you assess him for?
Illicit drug or steroid use
What does a low level of TSH indicate?
hypothyroidism
Symptoms of Cushing's syndrome
An enlarged thyroid gland
Difficulty swallowing
Prominent or bulging eyes
Weight loss or poor weight gain
Rapid pulse
Hair loss
Weakness or fatigue
Low tolerance of hot weather
Irritability and mood swings
Lack of concentration
Emotional outbursts, like crying or yelling
Rapid growth rate that slows and may ultimately lead to short stature
Symptoms in babies include:
Rapid heartbeat
Irritability
Swollen thyroid gland
Bulging eyes
Excessive hunger
UTI in a 2-year-old, what would your treatment be?
Amoxicillin, Cefdinir, Bactrim, or Cipro (complicated UTI only, not first choice)
Sickle cell anemia and prophylactic penicillin
initiate before 3 months of age and continue until at least 5 yrs of age- oral PCN VK 125 BID up to age 3, then 250mg BID
Peak incidence of osteosarcoma is what age group
Peak incidence between 15-19; more common in males
diagnosis of osteosarcoma in children
Physical exam
Chest x-ray, MRI, CT scan, bone scan, PET scan
Biopsy (CT-guided needle or surgical)
Pathology of the bone tissue
Blood tests (alkaline phosphate & lactate dehydrogenase specifically)
Diagnosis of Wilms tumor
Medical history
Physical examination
MRI, CT scan, X-ray
renal ultrasound
Urinalysis (looking for catecholamines to rule out a neuroblastoma)
Biopsy
Diagnosis of Acute Lymphocytic Leukemia
Medical history
Physical exam
CBC w/ diff and peripheral blood smear
Blood chemistry tests
Blood coagulation tests
Bone marrow aspiration and biopsy
The bone marrow (and sometimes blood) samples are looked at with a microscope by a pathologist and may be reviewed by the patient's hematologist/oncologist. Determining what percentage of cells in the bone marrow are blasts is particularly important. A diagnosis of ALL generally requires that at least 20% of the cells in the bone marrow are blasts. Under normal circumstances, blasts don't make up more than 5% of bone marrow cells
Cytochemistry
Flow cytometry and immunohistochemistry (samples of cells are treated with antibodies, which are proteins that stick only to certain other proteins on cells)
Immunophenotyping - classifying leukemia cells according to proteins on or in the cells
Cytogenics
Fluorescent in situ hybridization (FISH)
Polymerase chain reaction (PCR)
Lumbar puncture
Lymph node biopsy
Features of diGeorge syndrome
Heart murmur and bluish skin cyanosis as a result of a heart defect
Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip
A gap in the roof of the mouth (cleft palate) or other problems with the palate
Delayed growth
Difficulty feeding, failure to gain weight or gastrointestinal problems
4 year old being treated with chemotherapy; which immunizations should he avoid?
MMR and Varicella because they are live-attenuated vaccines
A 11-year-old who presents with weight loss, polyuria, and polydipsia. What do you need to rule out ?
Diabetes
congenital adrenal hyperplasia
Genetic disease in which the adrenal glands don't work properly, resulting in a deficiency of cortisol and aldosterone.
Individuals affected by classic CAH caused by 21-hydroxylase deficiency produce excess adrenal steroids that lead to the production of testosterone and related male-like hormones.
A 14-year-old who has not started menstrual cycle
Chromosomal or genetic abnormalities can cause the ovaries to stop functioning normally. Turner syndrome, a condition caused by a partially or completely missing X chromosome, and androgen insensitivity syndrome, often characterized by high levels of testosterone
Problems with the hypothalamus or pituitary gland in the brain can cause an imbalance of hormones that can prevent periods from starting
What could cause primary dysmenorrhea
The etiology of primary dysmenorrhea is not precisely understood, but most symptoms can be explained by the action of uterine prostaglandins, particularly PGF2α. During endometrial sloughing, the disintegrating endometrial cells release PGF2α as menstruation begins. PGF2α stimulates myometrial contractions, ischemia and sensitization of nerve endings. The clinical evidence for this theory is quite strong. Women who have more severe dysmenorrhea have higher levels of PGF2α in their menstrual fluid. These levels are highest during the first two days of menses, when symptoms peak
Signs and symptoms of primary hypothyroidism
A puffy-looking face
Large, thick tongue
Large soft spots of the skull
Hoarse cry
Distended stomach with outpouching of the belly button (umbilical hernia)
Feeding problems, including needing to be awakened for feedings and difficulty swallowing
Constipation
"Floppy" (hypotonia)
Jaundice
What signs and symptoms would be found in an adolescent with untreated graves' disease?
Myxedema
S/S of Turner syndrome
Wide or weblike neck
Low-set ears
Broad chest with widely spaced nipples
High, narrow roof of the mouth (palate)
Arms that turn outward at the elbows
Fingernails and toenails that are narrow and turned upward
Swelling of the hands and feet, especially at birth
Slightly smaller than average height at birth
Slowed growth
Cardiac defects
Low hairline at the back of the head
Receding or small lower jaw
Short fingers and toes
Slowed growth
No growth spurts at expected times in childhood
Adult height significantly less than might be expected for a female member of the family
Failure to begin sexual changes expected during puberty
Sexual development that "stalls" during teenage years
Early end to menstrual cycles not due to pregnancy
For most women with Turner syndrome, inability to conceive a child without fertility treatment
S/S of Marfan Syndrome
People with Marfan syndrome are often very tall and thin. Their arms, legs, fingers and toes may seem out of proportion, too long for the rest of their body. Their spine may be curved and their sternum may either stick out or be indented. Their joints may be weak and easily become dislocated. Often, people with Marfan syndrome have a long, narrow face and the roof of the mouth may be higher than normal, causing the teeth to be crowded.
Dental and bone problems
Eye problems
Changes in the heart and vessels (become weak and stretch)
Heart valve problems
Cardiomyopathy
Aortic root dilation
Arrhythmia
Lung changes
Skin changes
S/S of Beckwith-Wiedemann syndrome
Large birth weight and length (macrosomia)
Overgrowth of one side or one part of the body (hemihypertrophy/hemihyperplasia))
An enlarged tongue (macroglossia).
Hypoglycemia during the newborn period and sometimes prolonged hypoglycemia (due to hyperinsulinism).
Defects in the abdominal wall (umbilical hernia or an omphalocele)
Enlarged abdominal organs, such as the kidneys, liver and pancreas.
Pits or creases in the earlobe or behind the ear.
An increased risk of developing certain cancers during childhood (most which can be cured with proper treatment)
S/S of Klinefelter syndrome
Low muscle tone (hypotonia) and problems with coordination that may delay the development of motor skills, such as sitting, standing, and walking. Learning disabilities, resulting in mild delays in speech and language development and problems with reading. Tend to have better receptive language skills than expressive language skills and may have difficulty communicating and expressing themselves.
Have anxiety, depression, impaired social skills, behavioral problems such as emotional immaturity and impulsivity, attention deficit hyperactivity disorder (ADHD), and limited problem-solving skills (executive functioning).
Type 2 diabetes, hypertension, increased belly fat, hyperlipidemia. Increased risk of developing involuntary trembling (tremors), breast cancer (if gynecomastia develops), osteoporosis, and autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis.