Brudzinski’s sign

Even though Brudzinski  (a very famous Polish Physician)  described several signs in patients with meningitis, Brudzinski’s neck sign is most the most used test and is  referred to as Brudzinski’s sign.
How to elicit this sign?
With the patient supine, the examiner places one hand behind the patient’s head and places the other hand on the patient’s chest. The examiner then raises the patient’s head (with the hand behind the head)
while the hand on the chest restrains the patient and prevents the patient from rising. Flexion of the
patient’s lower extremities (hips and knees) constitutes a positive sign. Brudzinski’s neck sign is more sensitive than Kernig’s sign. 
How is it caused?

This sign is caused by the  motor nerve roots irritation which pass through inflamed meninges because the roots are brought under tension.

Image from Wikipedia: Meninges of the central nervous system: dura mater, arachnoid, and pia mater.

Cystic Hygroma

A cystic hygroma is a congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck.his is the most common form of lymphangioma
Cystic hygromas occur in approximately 1% of fetuses between weeks 9 and 16 of pregnancy
Cystic hygromas can occur as an isolated finding or in association with other birth defect. Because the risk for a chromosome abnormality approaches 50% when a cystic hygroma is found prenatally, amniocentesis or CVS (chorionic villus sampling) can be performed to diagnose these conditions.Cystic hygromas that develop in the third trimester (after thirty weeks gestation) or in the postnatal period are usually not associated with chromosome abnormalities. There is a chance of recurrence after surgical removal of the cystic hygroma.
A common association is Turner Syndrome. Severe form of this is HYDROPS.

Image Courtesy: DermAtlas

Video: Youtube

What the HECK is FRECKLE and how to differentiate fromLentigines

These are small pigmented spots on the skin with a clearly-defined edge, surrounded by normal-appearing skin. It is a harmless (benign) hyperplasia of melanocytes which is linear in its spread. is restricted to the cell layer directly above the basement membrane of the epidermis where melanocytes normally reside. 
This is in contrast to the "nests" of multi-layer melanocytes found in moles (melanocytic nevi). Because of this characteristic feature, the adjective "lentiginous" is used to describe other skin lesions that similarly proliferate linearly within the basal cell layer
The picture of lentigines below is from DERM ATLAS

Lentigines VS. Freckles:
Freckles have a relatively normal number of melanocytes but an increased amount of melanin. A lentigo has an increased number of melanocytes. Freckles will intensify and fade with sunlight exposure, whereas lentigines will stay stable in their color regardless of sunlight exposure

The pictures of Freckle below are from Wikipedia

Acanthosis nigricans

Darker, thick, velvety skin in body folds and creases. Rarely can cause itching


Commonest cause: Insulin Resistance (Insulin causes hyperplasia of the skin)
Internal Malignancies can cause this as well

Courtesy:

Avril Nimblett, MS, PA-C

 Acanthosis nigricans in children can be a precursor of type 2 diabetes

Image from Wikipedia

Anchovy sauce...

I know it is annoying to relate food to disease - but makes it easy remember and come with the correct diagnosis.
Anchovy sauce: Anchovies are a family of small, common salt-water  fish. Here you see Anchovy sauce in a bowl in the first picture. The picture underneath shows pus aspirated from a liver abscess confirmed to be due to entamoeba histolytica. 

Worldwide, Amoebic liver abscess is more common than pyogenic liver abscess.It is common in under developed countries. The disease is caused by ENTAMOEBA HISTOLYTICA. Infarction, enzymatic hydrolysis and immunological reaction either independently or in combination results in an abscess.The color has been described as “like anchovy sauce”. Anchovy sauce like pus is not always amoebic. It is not typical of amoebic liver abscess and has been over stressed in the past.The pus is usually chocolate colored or pinkish brown.

DIAGNOSTIC CRITERIA

1. History of residence in endemic area.

2. An enlarged tender liver in young male.

3. Response to metronidazole.

4. Leucocytosis

5. Elevation of right hemi diaphragm (radiology)

6. Scanning shows a filling defect.

7. A positive amoeba indirect haemagglutination test.

Source: AMOEBIC LIVER ABSCESS BY DR TAJUDDIN and wikipedia

LINGUAL THYROID

The tongue is the most frequent ectopic location of the thyroid gland. Incidence of lingual thyroid varies between 1:3000 and 1:10,000.

Picture Courtesy: http://www.ghorayeb.com/LingualThyroid.html

In the first month of life the anlage of the thyroid gland descends from the posterior dorsal midline of the tongue to its final position in the lower neck. The initial site of descent eventually becomes the foramen caecum, located in the midline at the junction of the anterior (oral) tongue and the tongue base. 

If the embryonic gland does not descent normally, ectopic or residual thyroid tissue may be found between the foramen caecum and the epiglottis.

Rarely, parathyroid glands can be associated with the ectopic thyroid.  Many patients with lingual thyroid lack thyroid tissue in the neck.

Surgical excision or radioiodine therapy can be effective treatments for lingual thyroid, but no treatment should be attempted before radioisotope scan has confirmed that there is adequate thyroid tissue in the neck.  In those patients lacking thyroid tissue in the neck, the lingual thyroid could be excised and auto-transplanted in the neck region. 
Most cases require no treatment.
Keeping TSH and Free T4 in a good range will avoid undue enlargement which can sometime result in respiratory distress

Hereditary angioedema (HAE)

Also known as Quincke's disease - An Autosomal Dominant disease

Caused by a deficiency or dysfunction of the C1 esterase inhibitor, a protein of the complement system

People with hereditary angioedema can develop rapid swelling of the hands, feet, limbs, face, intestinal tract, larynx or trachea

Attacks of swelling can become more severe in late childhood and adolescence.

There is usually a family history of the condition. However, relatives may be unaware of previous cases, which may have been reported as an unexpected, sudden, and premature death

Investigations:

• C1 inhibitor function
• C1 inhibitor level
• Complement components C4 and C2
  Treatment:
  Antihistamines and other treatments used for angioedema are of limited benefit in hereditary angioedema. Epinephrine should be used in life-threatening reactions.

  The most effective treatment is a C1 inhibitor concentrate (not available in the US), but this may not be available. Fresh frozen plasma contains C1 inhibitor and will help an episode, but rarely, the swelling will become worse.

  Berinert P (CSL Behring), which is pasteurized C1 inhibitor, was approved by the F.D.A. in 2009 for acute attacks. Cinryze (ViroPharma), which is nanofiltered, was approved by the F.D.A. in 2008 for prophylaxis. Rhucin (Pharming) is a recombinant C1 inhibitor under development that does not carry the risk of infectious disease transmission due to human blood-borne pathogens.

  Newer treatments attack the contact cascade. Ecallantide (Kalbitor, Dyax) inhibits plasma kallikrein, and was approved by the F.D.A. (but not in Europe) for acute attacks in 2009. Icatibant (Firazyr, Jerini) inhibits the bradykinin B2 receptor, and was approved in Europe and approved by the FDA on August 25, 2011.

  
  

  Prophylaxis:

  Attenuated androgens, such as danazol, can reduce the frequency and severity of attacks by increasing the production of C1 inhibitor.

  Helicobacter pylori, a type of bacteria found in the stomach, can trigger abdominal attacks. Getting rid of the bacteria with antibiotic therapy decreases these abdominal attacks.
  Hereditary angioedema can be life threatening and treatment options are limited.

  Courtesy: www.ncbi.nlm.nih.gov, youtube - HAE.org website and Wikipedia

Gila Monster and GLP!

Gila monster is the only venomous lizard native to the United States and one of only two known species of venomous lizards in North America

Venom is produced in modified salivary glands in the Gila monster's lower jaw, unlike snakes, whose venom is produced in the upper jaw. 
In 2005,  drug exenatide was approved (marketed as Byetta) for the management of type 2 diabetes. It is a synthetic version of a protein, exendin-4, derived from the Gila monster's saliva.
Exenatide led to healthy sustained glucose levels and progressive weight loss. The effectiveness is due to the fact that exenatide is about 50 percent identical to glucagon-like peptide-1 analog (GLP-1), a hormone released from the human digestive tract that helps to regulate insulin and glucagon. The lizard protein remains effective much longer than the human hormone, helping diabetics keep their blood sugar levels under control. 
Exenatide slows the emptying of the stomach and causes a decrease in appetite, contributing to weight loss.
The saliva of the Gila monster contains many chemicals which can be deadly. One of these has been shown to affect memory. Several companies have been researching the abilities of this chemical to help memory loss due to various diseases such as Alzheimer’s, schizophrenia, and ADHD. Gilatide, derived from exendin-4, has been shown to dramatically heighten memory in a study with mice. Gilatide is likely to be researched further to provide help to Alzheimer’s patients.

Source: Wikipedia

Kussmaul Breathing

Kussmaul breathing is a deep and labored breathing pattern often associated with severe metabolic acidosis, particularly diabetic ketoacidosis (DKA) but also renal failure. It is a form of hyperventilation, which is any breathing pattern that reduces carbon dioxide in the blood due to increased rate or depth of respiration. 

Kussmaul breathing is respiratory compensation for a metabolic acidosis, most commonly occurring in diabetics in diabetic ketoacidosis. Blood gases on a patient with Kussmaul breathing will show a low partial pressure of CO₂ in conjunction with low bicarbonate because of a forced increased respiration (blowing off the carbon dioxide). Base excess is severely negative. The patient feels an urge to breathe deeply, an "air hunger", and it appears almost involuntary.

A metabolic acidosis soon produces hyperventilation, but at first it will tend to be rapid and relatively shallow. Kussmaul breathing develops as the acidosis grows more severe. Indeed, Kussmaul originally identified this type of breathing as a sign of coma and imminent death in diabetic patients.

Duration of fasting, presence or absence of hepatomegaly and Kussmaul breathing provide clues to the differential diagnosis of hyperglycemia in the inborn errors of metabolism

Content courtesy: Wikipedia, Patterns of breathing: Loyola University Medical Education Network. Video from Youtube

Marfan Syndrome

Marfan syndrome  an autosomal dominant genetic disorder of the connective tissue caused by mutations in the FBN1 gene on chromosome 15. People with Marfan's tend to be unusually tall, with long limbs and long, thin finger with dislocated lenses and aortic root dilation 

FBN1, which encodes a connective protein called fibrillin-1

The Fibrillin 1 protein is essential for the proper formation of the extracellular matrix including the biogenesis and maintenance of elastic fibers. The extracellular matrix is critical for both the structural integrity of connective tissue but also serves as a reservoir for growth factors

In addition to being a connective protein that forms the structural support for tissues outside the cell, the normal fibrillin-1 protein binds to another protein, transforming growth factor beta (TGF-β)..TGF-β has deleterious effects on vascular smooth muscle development and the integrity of the extracellular matrix.Secondary to mutated fibrillin there is excessive TGF-β at the lungs, heart valves, and aorta, and this weakens the tissues and causes the features of Marfan syndrome.

Lens Dislocation:

In Marfan's the dislocation is typically superotemporal whereas in  homocystinuria, the dislocation is inferonasal.

The Steinberg sign & Walker-Murdoch sign.

THE STEINBERG SIGN (a):

This test is used for the clinical evaluation of Marfan patients.

Procedure:
Instruct the patient to fold his thumb into the closed fist. This test is positive if the thumb tip extends from palm of hand (see figure a).

THE WALKER-MURDOCH SIGN (b):

This test is used for the evaluation of patients with Marfan syndrome.

Procedure:
Instruct the patient to grip his wrist with his opposite hand. If thumb and fifth finger of the hand overlap with each other, this represents a positive Walker-Murdoch sign (see figure b).

Courtesy: http://palmreadingperspectives.wordpress.com/2011/05/20/hands-signs-in-marfan-syndrome-thin-fingers-hand-shape-hypermobility/ and wikipedia

Café au lait spots

Café au lait (French pronunciation: [kafe o lɛ] "coffee with milk") is a French coffee drink. 
Are so called because the spots are light brown in color ( like coffee with milk)
They are pigmented birthmarks.  The spots of neurofibromatosis,  have a smooth border resembling the "coast of California"

Having six or more café au lait spots greater than 5 mm in diameter before puberty, or greater than 15 mm in diameter after puberty, is a diagnostic feature of neurofibromatosis type I, but other features are required to diagnose NF-1. The incidence of single lesions is high and of no significance - a patient is allowed up to four patches of less than 0.5cm diameter, but no patches greater than 1.5cm diameter.


Café au lait spots: In McCune-Albright's syndrome WILL NOT CROSS THE MIDLINE has a irregular border compared to "Coast of Maine"The patches are usually large, and have irregular borders resembling the "coast of Maine". .

Typical lesions that are often found on the nape of the neck and crease of the buttocks are shown (arrows).

Picture Courtesy: Wikkipedia

Thyroid Antibodies

Courtesy: http://labtestsonline.org/understanding/analytes/thyroid-antibodies/tab/test

Image: http://www.gghjournal.com/volume21/1/ab15.cfm

Thyroid peroxidase or thyroperoxidase (TPO) is an enzyme expressed mainly in the thyroid that liberates iodine for addition onto tyrosine residues on thyroglobulin for the production of thyroxine (T₄) ortriiodothyronine (T₃), thyroid hormones. In humans, thyroperoxidase is encoded by the TPO gene.

Thyroid peroxidase is a frequent epitope of autoantibodies in autoimmune thyroid disease, with such antibodies being called anti-thyroid peroxidase antibodies (anti-TPO antibodies).

THYROID ANTIBODY	ACRONYM	PRESENT IN	WHEN ORDERED	OTHER FACTS
Thyroid peroxidase antibody	TPOAb	Hashimoto thyroiditis;Graves disease	When patient has symptoms suggesting hypothyroidism; when considering starting a patient on a drug therapy that has associated risks of developing hypothyroidism when thyroid peroxidase antibodies are present, such as lithium, amiodarone, interferon alpha, or interleukin-2	Has been associated with reproductive difficulties, such as miscarriage,preeclampsia, premature delivery, and in-vitro fertilization failure
Thyroglobulin antibody	TgAb	Thyroid cancer; Hashimoto thyroiditis	Whenever a thyroglobulin test is performed to see if the antibody is present and likely to be interfering with the test results; since the thyroglobulin test will be ordered at regular intervals after thyroid cancer treatment, thyroglobulin antibody will also be ordered at regular intervals
Thyroid stimulating hormone receptor antibody	TRAb	Graves disease	When patient has symptoms of hyperthyroidism; to monitor effectiveness of anti-thyroid therapy