Digeorge syndrome - Study guides, Class notes & Summaries

What is the most common birth defect? correct answer: -congenital heart disease -1% of live births in USA How often does critical CHD occur? correct answer: -25% of infants and require intervention first year of life What risk factors are associated with CHD? correct answer: -genetic factors: overall incidence of CHD in patients with chromosomal abnormalities is 30% -exposure to teratogens -maternal disease or infection -familial risk factors What chromosomal abnormalities and di...

What are B-lymphocyte deficiencies? ~ Abnormal B-cell development leads to lower levels of circulating immunoglobulins which increases risk of infection Hypogammaglobulinemia (low antibody levels) or agammaglobulinemia (absent) What is T-Lymphocyte Deficiencies? ~ 1. DiGeorge syndrome: - Partial or complete absence of T-cell immunity from a partial thymus 2. Chronic mucocutaneous candidiasis - Primary defect of T lymphocytes in response to a specific infectious agent, the yeast Can...

PNCB Review Practice Test . Treatment for a chalazion - correct answer Topical opthalmic ointment Warm compresses NOT oral abx Test for evaluation of Acute rheumatic fever - correct answer ASO titer (antistreptolysin-O) allows you to identify the underlying organism The most common temperamental profile is: - correct answer easy other choices: difficult, slow-to-warm-up Most common asthma trigger in very young child - correct answer Acute respiratory infection Manage...

Kettering NPS Patient assessment Test 1 Questions & Answers 2024 The neonatal/pediatric specialist attends a high-risk delivery in which the newborn's buttocks and lower extremities present first. This fetal presentation is best referred to as A. complete breech. B. frank breech. C. incomplete breech. D. transverse lie. - ANSWER-A. complete breech. Protruding intestines contained within a translucent membrane or sac best describes which of the following conditions? A. Gas...

List drug options that will cover a pseudomonas Ceftazidime, cefipime, Pipercillin/ticarcillin, Meropenem, imipenem,aztreonam, Flouroquinolones, Aminoglycosides Describe the differences in CSF findings between bacterial, viral, & herpes meningitis Bacterial- Decreased glucose and highly Increased WBC, Lactate, protein: Diff- PMN Viral- Glucose normal and lactate normal or decreased, protein and WBC mildly increased. DIff PMN first than monos Herpes- Glucose normal, protein and WBC inc...

Which of the following is an autoimmune disease? Systemic Lupus Erythematosus (SLE). What is a predominant cause of secondary immune deficiencies worldwide? Malnutrition Previous Play Next Rewind 10 seconds Move forward 10 seconds Unmute 0:00 / 0:15 Full screen Brainpower Read More An example of a secondary immunodeficiency is? HIV, Pneumocystic Carnii, Pneumonia, Sinus Infection, Lung Cancer. An example of a primary immunodeficiency is? Chronic Granulomato...

SLP Praxis: Genetic Syndromes Latest Update Graded A+ Angelman Syndrome Chromosome 15 seizures, stiff and jerky gait, laughter and happy demeanor, excitable, short attention span, No or few words; nonverbals and verbal receptive skills much higher than expressive skills Apert Syndrome syndactyly, craniosynostosis, midfacial hypoplasia, cleft 25-30% of time conductive hearing loss sometimes, hyponasality, artic (s,z,f,v) normal intelligence sometimes, sometimes mild to moderate intellectual dis...

CMMB413 Midterm ISegmental aneusomy/contiguous gene syndromes - correct answer microdeletions - small deletions that delete a series of genes in a row Ex: DiGeorge syndrome 3 Mb deletion in 22q11.2 region more susceptible due to areas of repetition Clinical cytogenetics - correct answer practice of medical genetics by studying the structure and number of chromosomes and ID possible disorders/abnormalities Indications of chromosomal disorders - correct answer 1. Problems with early g...

PNCB Review Questions with Complete Solutions Treatment for a chalazion - ANSWER Topical opthalmic ointment Warm compresses NOT oral abx Test for evaluation of Acute rheumatic fever - ANSWER ASO titer (antistreptolysin-O) allows you to identify the underlying organism The most common temperamental profile is: - ANSWER easy other choices: difficult, slow-to-warm-up Most common asthma trigger in very young child - ANSWER Acute respiratory infection Management of pityriasis alba - ANS...

Chagas Disease - Caused by Trypanosoma cruzi parasite passed in the feces of Reduviidae/kissing bug Penetrates broken skin or intact mucous membranes forming a pseudocyst releasing inflammatory infiltrates into myocytes; stains with Giemsa & Wright Romana sign occurs when portal of entry is the conjunctiva or eyelid May resulting in: Enlarged heart- CHF, sudden cardiac arrest Enlarged esophagus- difficulty swallowing Enlarged colon- abdominal pain or constipation Treat with benzn...