Pap Smear

Myotonia Dystrophica

Charecteristics are-expressionles face due to wasting of facial and temporal muscles,called myopathic face.
Swan-like neck due to wasting of sternocleidomastoids.

Thalassemias

Hemoglobin Synthesis

Hemaglobin is a tetramer protein (meaning it has 4 heme groups)

2 alpha protein subunits & 2 Beta protein subunits

There is an iron atom in the center of each heme group

Function: Reversible binding of Oxygen

Thalessemias are the MOST common genetic disease worldwide. They are a group of disorders with ineffective RBC production (impairment in rate of globin chain synthesis) resulting in microcytic anemai with ineffective erythropoiesis.

Beta Thalassemia
Inherited defect in Beta chain synthesis
Unaffected alpha chain continues to be produced and accumulates in the RBC and interferes with normal maturation and contributes to the RBC destruction. The excess alpha chains denature to form precipitates called Heinz bodies in the RBC precursors in the boen marrow. The Hdinz bodies impair DNA synthesis & damage the RBC membrane which can lead to severe hypochromic microcytic anemia.
Chronic transfusions are required with an inevitable iron overload. 50% of untreated patients die by 5 years of age.


Clinical Manifestations
The more severe the imbalance between alpha & beta hemoglobin the worse the disease
Heterozygous = Beta Thalassemia Minor (mose normal Hgb and malarial protection)
Homozygous = Beta Thalassemia Major (severe, transfusion-dependent, early onset at 6-9 months of age, growth retardation)
Every body system is affected

• increased hematopoiesis leads to bone marrow expansion, impaired growth & thinning of cortical bone
• increased red cell destruction leads to increased iron absorption, splenomegaly & hepatomegaly (fibrosis, cirrhosis)
• Heart: arrhythmia, myocarditis, congestive heart failure
• Pancrease: Beta cells are destroyed leading to diabetes
• Pituitary: growth retardation, hypogonadotropic hypogonadism
• Parathyroid: hypocalcemia, osteoporosis

Classical Presentation

• Frontal bossing/severe thalassemia facies (see photo below)
• hepatosplenomegaly
• hypersplenism
• pallor
• cachexia
• fatigue
• poor appetite

The x-ray on the right above demonstrates bone marrow hyperplasia of the skull.

Laboratory Features
Severe anemia with MCV in the 50-60 range (microcytosis) also hypochromic
On smear will be target cells and hardly any normal cells




Treatment
Regular Transfusions

• Hgb goal post ransfusion of 10g/dl
• needed approximately every 4 weeks

Chelation

• Desferoxamine (Desferal)
• SQ over 10-12 hours, 5-6 days/wk
• avoid if < 3 years old because of toxicity
• Side effects: ototoxicity with high frequency hearing loss, retinal changes, bone dysplasia/truncal shortening

Oral Chelator? So far no safe alternative
Folate supplementation
Spenectomy (for hypersplenism) as indicated by:

• Dramatic increase in transfusion requirements
• massive size that interfres with breathing and nutrition
• severe pain
• avoid before 5 years if at all possible
• immunize with pneumovax and menigovax pre-splenectomy
• post splenectomy will need penicillin prophylaxis for life

Stem cell transplantation - Bone Marrow Transplant

Marasmus

Checklist of points for conducting the physical examination

• Body temperature (measured with a thermometer) - Allowing measurement of low temperatures to detect hypothermia as well as fever
• Anemia - Pale mucosa
• Edema
• Dehydration - Thirst, shrunken eyes
• Hypovolemic shock - Weak radial pulse, cold extremities, decreased consciousness
• Tachypnea - Pneumonia, heart failure
• Abdominal manifestations - Distension, decreased or metallic bowel sounds, large or small liver, blood or mucus in the stools
• Ocular manifestations - Corneal lesions associated with vitamin A deficiency
• Dermal manifestations - Evidence of infection, purpura
• Ear, nose, and throat (ENT) findings - Otitis, rhinitis

Allergic Rhinitis

Allergen mediated; thus, allergen avoidance is the best treatment.


➤ Nasal steroids are the most effective chronic allergic rhinitis medications, often used with antihistamines.

➤ Nasal polyps can be sequelae of chronic inflammation and allergic rhinitis, but younger patients with polyps must be screened for cystic fibrosis.

People often confuse an allergy with a cold or flu. Remember colds are short-lived and passed from person to person, whereas allergies are immune system reactions to normally harmless substances

Low Backache

In 90% of patients,acute low back pain,even with sciatic nerve involvement, resolves within 4 to 6 weeks.

➤ Analgesics, such as nonsteroidal anti-inflammatory drugs or narcotics, muscle relaxants, and attempts at maintaining some level of activity are helpful in managing acute low back pain; bedrest does not help.

➤ Pain that interferes with sleep, significant unintentional weight loss, or fever suggests an infectious or neoplastic cause of back pain.

➤ Imaging studies, such as magnetic resonance imaging, are useful only if surgery is being considered (persistent pain and neurologic symptoms after 4 to 6 weeks of conservative care in patients with herniated disks) or
if a neoplastic or inflammatory cause of back pain is being considered.

Pericardial Effusion and Cardiac Tamponade ,the difference : 

PERICARDIAL EFFUSION: Fluid that fills the pericardial space, which may be due to infection or malignancy. A rapid accumulating effusion may lead to cardiac compromise.

CARDIAC TAMPONADE: Increased pressure within the pericardial space caused by an accumulating effusion, which compresses the heart and impedes diastolic filling.