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

Wolff–Parkinson–White syndrome

Wolff-Parkinson-White syndrome is a heart condition in which there is an extra electrical pathway (circuit) in the heart. The condition can lead to episodes of rapid heart rate
Wolff-Parkinson-White is one of the most common causes of fast heart rate disorders in infants and children.
In people with Wolff-Parkinson-White syndrome, there is an extra, or accessory, pathway that may cause a very rapid heart rate. This is called supraventricular tachycardia.
ECG  may show an abnormality called a "delta" wave. ( see the short PR interval)

Intracardiac electrophysiology study (EPS) : May be needed sometimes to make the diagnosis. The study involves placing wire electrodes in the heart to check for abnormal heartbeats or heart rhythms.

Medication may be used to control or prevent rapid heart beating. These include adenosine, antiarrhythmics, and amiodarone.

 electricalcardioversion may be needed in some

The current preferred therapy for Wolff-Parkinson-White syndrome is catheter ablation (success rate for the procedure ranges between 85 - 95%). The small area that is causing the fast heart rate is destroyed using radiofrequency.

Rarely surgery is needed

 Success rate of Catheter ablation will vary depending on location of accessory pathway and number of accessory pathways.

Courtesy: http://en.wikipedia.org/wiki/Wolff%E2%80%93Parkinson%E2%80%93White_syndrome, http://www.nlm.nih.gov/medlineplus/ency/article/000151.htm AND http://pedicardiology-bala.blogspot.com/2011/08/ekg-wpw-syndrome.html

Major Depressive Disorder in Children and Adolescents

Source: http://www.uspreventiveservicestaskforce.org/uspstf/uspschdepr.htm#summary
U.S. Preventive Services Task Force (USPSTF) recommendations on screening for depression in children and adolescents

Summary of Recommendations

• The USPSTF recommends screening of adolescents (12-18 years of age) for major depressive disorder (MDD) when systems are in place to ensure accurate diagnosis, psychotherapy (cognitive-behavioral or interpersonal), and follow-up. 
• The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening of children (7-11 years of age).
• Benefits of Detection and Early Intervention
• Adolescents (12-18 years of age): The USPSTF found adequate evidence that treatment in adolescents with selective serotonin reuptake inhibitors (SSRIs -  fluoxetine) ), psychotherapy, and combined therapy (SSRIs and psychotherapy) results in decreases in MDD symptoms.
• Children (7-11 years of age): The USPSTF found inadequate evidence to support the benefits of treatment in children. SSRIs (fluoxetine) reduce MDD symptoms in children; however, there are limited data on the benefits of psychotherapy and the benefits of psychotherapy plus SSRIs in children.
• Assessment of Risk: Important risk factors that can be assessed relatively accurately and reliably include parental depression, having comorbid mental health or chronic medical conditions, and having experienced a major negative life event.

Screening Tests: Instruments developed for primary care (Patient Health Questionnaire for Adolescents [PHQ-A] and the Beck Depression Inventory-Primary Care Version [BDI-PC]) have been used successfully in adolescents. 

There are limited data describing the accuracy of using MDD screening instruments in younger children (7-11 years of age).

Treatment: Among pharmacotherapies available for the treatment of MDD in children and adolescents, SSRIs have been found to be efficacious. Treating depressed youth with SSRIs is associated with an increased risk of suicidality and, therefore, should only be considered if judicious clinical monitoring is possible. Psychotherapy trials indicate that a variety of psychotherapy types are efficacious among adolescents (including cognitive-behavioral and interpersonal therapies). Harms of psychotherapy are felt to be small.

Update of Previous USPSTF Recommendation

This recommendation updates the previous recommendation released in 2002. The major change in the current recommendation is that the USPSTF now recommends screening of adolescents (12-18 years of age) for MDD when systems are in place to ensure accurate diagnosis, psychotherapy (eg, cognitive-behavioral, interpersonal), and follow-up. In 2002, the USPSTF concluded that there was insufficient evidence to recommend for or against routine screening of children or adolescents for MDD (I recommendation). The basis for this change in recommendation for adolescents is a result of new evidence that demonstrates treatment benefit.

Glomerulonephritis (gloe-mer-u-lo-nuh-FRY-tis)

Glomerulonephritis, is a renal disease (usually of both kidneys) characterized by inflammation of the glomeruli, or small blood vessels in the kidneys.
It may present with isolated hematuria and/or proteinuria.
Presenting picture can be nephrotic syndrome, a nephritic syndrome, acute renal failure, or chronic renal failure.
Broadly grouped into non-proliferative or proliferative types.
Diagnosing the pattern of GN is important because the outcome and treatment differs in different types.
Primary causes are ones which are intrinsic to the kidney, whilst secondary causes are associated with certain infections (bacterial, viral or parasitic pathogens), drugs, systemic disorders (SLE, vasculitis) or diabetes.

Non Proliferative
This is characterised by the numbers of cells (lack of hypercellularity) in the glomeruli. They usually cause nephrotic syndrome. This has the following types:

Minimal change GN (also known as Minimal Change Disease)

The three hallmarks of Minimal Change Disease: diffuse loss of podocyte foot processes, vacuolation, and the appearance of microvilli.

This form of GN causes >75% of nephrotic syndrome in children, but only ~20% in adults. There are no changes visible on simple light microscopy, but on electron microscopy there is fusion of podocytes (supportive cells in the glomerulus).
Immunohistochemistry staining is negative.
Treatment consists of supportive care for the massive edema and as well as steroids to halt the disease process (typically Prednisone 1 mg/kg). Over 90% of children respond well to steroids, being essentially cured after 3 months of treatment.
Adults have a lower response rate (80%).
Failure to respond to steroids ('steroid resistant') or return of the disease when steroids are stopped ('steroid dependent') may require cytotoxic therapy (such as cyclosporin) which is associated with many side-effects.

Other 2 typs with nonproliferative are Focal Segmental GN and Membranous glomerulonephritis.


Proliferative Glomerulonephritis
This type is characterised by increased number of cells in the glomerulus (hypercellular). Usually present as a nephritic syndrome and usually progress to end-stage renal failure (ESRF) over weeks to years (depending on type).

Courtesy: http://en.wikipedia.org/wiki/Minimal_change_disease and Mayo Clinic

Interpretation of Hepatitis B Serologic Test Results

Hepatitis B serologic testing involves measurement of several hepatitis B
virus (HBV)-specifi c antigens and antibodies. Different serologic “markers”
or combinations of markers are used to identify different phases of HBV
infection and to determine whether a patient has acute or chronic HBV
infection, is immune to HBV as a result of prior infection or vaccination, or
is susceptible to infection.
Hepatitis B surface antigen (HBsAg):
A protein on the surface of hepatitis B virus; it can be detected in high levels in serum during acute or chronic hepatitis B virus infection. The presence of HBsAg indicates that the person is infectious. The body normally produces antibodies to HBsAg as part of the normal immune response to infection. HBsAg is the antigen used to make hepatitis B vaccine.

Hepatitis B surface antibody (anti-HBs):
The presence of anti-HBs is generally interpreted as indicating recovery and immunity from hepatitis B virus infection. Anti-HBs also develops in a person who has been successfully vaccinated against hepatitis B

Total hepatitis B core antibody (anti-HBc):
Appears at the onset of symptoms in acute hepatitis B and persists for life. The presence of
anti-HBc indicates previous or ongoing infection with hepatitis B virus in an undefined time frame

IgM antibody to hepatitis B core antigen (IgM anti-HBc):
Positivity indicates recent infection with hepatitis B virus (<6 mos). Its presence indicates acute infection.
Tests Results Interpretation

Susceptible
HBsAg negative
anti-HBc negative
anti-HBs negative

Immune due to natural infection
HBsAg negative
anti-HBc positive
anti-HBs positive

Immune due to hepatitis B vaccination
HBsAg negative
anti-HBc negative
anti-HBs positive

Acutely infected
HBsAg positive
anti-HBc positive
IgM anti-HBc positive
anti-HBs negative

Chronically infected
HBsAg positive
anti-HBc positive
IgM anti-HBc negative
anti-HBs negative

Interpretation unclear; four possibilities:
1. Resolved infection (most common)
2. False-positive anti-HBc, thus susceptible
3. “Low level” chronic infection
4. Resolving acute infection
anti-HBs negative
HBsAg negative
anti-HBc positive
Adapted from: A Comprehensive Immunization Strategy to Eliminate Transmission of Hepatitis B
Virus Infection in the United States: Recommendations of the Advisory Committee on Immunization
Practices. Part I: Immunization of Infants, Children, and Adolescents. MMWR 2005;54(No. RR-16


Courtesy: http://www.cdc.gov/hepatitis/HBV/PDFs/SerologicChartv8.pdf

Interesting Appendix!

One of the most common causes of severe acute abdominal pain worldwide.
A correctly diagnosed non-acute form of appendicitis is known as "rumbling appendicitis".
The term "pseudoappendicitis" is used to describe a condition mimicking appendicitis. It can be associated with Yersinia enterocolitica.

Picture shows an acutely inflamed and enlarged appendix, sliced lengthwise.

Rovsing's sign
Continuous deep palpation starting from the left iliac fossa upwards (counterclockwise along the colon) may cause pain in the right iliac fossa, by pushing bowel contents towards the ileocaecal valve and thus increasing pressure around the appendix.

Psoas sign or "Obraztsova's sign"
is right lower-quadrant pain that is produced with either the passive extension of the patient's right hip (patient lying on left side, with knee in flexion) or by the patient's active flexion of the right hip while supine. The pain elicited is due to inflammation of the peritoneum overlying the iliopsoas muscles and inflammation of the psoas muscles themselves. Straightening out the leg causes pain because it stretches these muscles, while flexing the hip activates the iliopsoas and therefore also causes pain.

Obturator sign
If an inflamed appendix is in contact with the obturator internus, spasm of the muscle can be demonstrated by flexing and internal rotation of the hip. This maneuver will cause pain in the hypogastrium.

Dunphy's sign
Increased pain in the right lower quadrant with coughing

Kocher's (Kosher's) sign
From the history given, the appearance of pain in the epigastric region or around the stomach at the beginning of disease with a subsequent shift to the right iliac region.

Differential diagnosis
In children
Gastroenteritis, mesenteric adenitis, Meckel's diverticulitis, intussusception, Henoch-Schönlein purpura, lobar pneumonia, urinary tract infection, new-onset Crohn's disease or ulcerative colitis, pancreatitis, abdominal trauma from child abuse, distal intestinal obstruction syndrome in children with cystic fibrosis, typhlitis in children with leukemia;

Courtesy: Wikipedia: http://en.wikipedia.org/wiki/Appendicitis

Neonatal Diabetes

Disease characteristics. Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to 26 weeks) that does not resolve over time. Clinical manifestations at the time of diagnosis include intrauterine growth retardation (IUGR); hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive.


Approximately 20% of individuals with mutations in KCNJ11 have associated neurologic findings, called the DEND syndrome (developmental delay, epilepsy, and neonatal diabetes mellitus)


a milder form without seizures and with less severe developmental delay is called intermediate DEND syndrome


Pancreatic hypoplasia caused by homozygous PDX1 mutations results in severe insulin deficiency and exocrine pancreatic insufficiency.


Management. Treatment of manifestations: Start rehydration and intravenous insulin 






The five genes currently known to be associated with nonsyndromic PNDM (Autosomal Dominant) are KCNJ11(~30% of PNDM), ABCC8 (~19%), INS (~20%), GCK (~4%), and PDX1 (<1%). Molecular genetic testing is available on a clinical basis for all genes
Some Autosomal Recessive Mutations also exist
Prenatal counselling needs to be done in affected families


Courtesy: http://www.ncbi.nlm.nih.gov/books/NBK1447/


Image courtesy: http://diabetes.diabetesjournals.org/content/57/11/2889.full

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Neonatal pustular melanosis or Transient Neonatal pustular melanosis

Other Terminologies:
1.Transient neonatal pustulosis
2.Transient Neonatal pustular melanosis
3.Lentigines neonatorum


It is a benign cutaneous condition that presents at birth with 1- to 3-mm flaccid, superficial fragile pustules, some of which may have already resolved in utero, leaving pigmented macules.

It has distinctive features characterized by vesicles, superficial pustules, and pigmented macules. The lesions of transient neonatal pustular melanosis are present at birth.

Commonly seen: On the chin, neck, forehead, chest, buttocks, back, and on the palms and soles

Self resolves in about 2 days. More common in dark skinned neonates.

Diagnosis: Usually Clinical. A Tzanck smear with a cellular stain (eg, Wright-Giemsa stain) or Gram stain of the contents of a pustule reveals a predominance of neutrophils and occasional eosinophils and cellular debris

Image Courtesy: DermAtlas

Tetralogy of Fallot

Picture Courtesy: American Heart Association

The classic form includes four defects of the heart and its major blood vessels:

• Ventricular septal defect (hole between the right and left ventricles)
• Narrowing of the pulmonary outflow tract (the valve and artery that connect the heart with the lungs)
• Overriding aorta (the artery that carries oxygen-rich blood to the body) that is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle
• Thickened wall of the right ventricle (right ventricular hypertrophy
  Factors that increase the risk for this condition during pregnancy include:
  • Alcoholism in the mother
  • Diabetes
  • Mother who is over 40 years old
  • Poor nutrition during pregnancy
  • Rubella or other viral illnesses during pregnancy
    
    
    Courtesy: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002534/
    
    
    Surgery is now often carried out in infants one year of age or younger with less than 5% perioperative mortality. The open-heart surgery is designed (1) to relieve the right ventricular outflow tract stenosis by careful resection of muscle and (2) to repair the VSD with a Gore-Tex patch or a homograft. Additional reparative or reconstructive surgery may be done on patients as required by their particular cardiac anatomy. (courtesy Wikipedia)

LEUKOTRIENE MODIFIERS

Picture Courtesy: Healthy Palm



Leukotrienes are fatty signaling molecules. They were first found in leukocytes (hence their name). One of their roles (specifically, leukotriene D₄) is to trigger contractions in the smooth muscles lining the trachea; their overproduction is a major cause of inflammation in asthma and allergic rhinitis.


Leukotrienes act principally on a subfamily of G protein-coupled receptors. They may also act upon peroxisome proliferator-activated receptors. Leukotrienes are involved in asthmatic and allergic reactions and act to sustain inflammatory reactions. Several leukotriene receptor antagonists such as montelukast and zafirlukast are used to treat asthma. Recent research points to a role of 5-lipoxygenase in cardiovascular and neuropsychiatric illnesses
Courtesy: http://en.wikipedia.org/wiki/Leukotriene

SOME BRAND NAMES OF LEUKOTRIENE MODIFIERS (Generic names in parentheses)
Singulair (Montelukast Sodium) Approved for children 2 and older
Accolate(Zafirlukast) Approved for children 7 and older
Zyflo (Zileuton) Not approved for children
Courtesy: NY State Government :http://www.nyc.gov/html/doh/downloads/pdf/asthma/leuko.pdf

The National Institutes of Health (NIH): national asthma guidelines:
1. Inhaled corticosteroids are the most effective anti-inflammatory medications for long-term management of persistent asthma.
2.    All people with asthma should receive a written Asthma Action Plan.
3.    All patients should have an initial assessment that covers impairment and risk to determine the level of therapy needed.
4.    At planned follow-up visits, asthma patients should review their level of control with their healthcare provider based on multiple measures of current impairment and future risk in order to guide clinician decisions to either maintain or adjust therapy.
5.    Patients who have asthma should be scheduled for planned follow-up visits at periodic intervals in order to assess their asthma control and modify treatment, if needed.
6.    Clinicians should review each patient’s exposure to allergens and irritants and provide a multi-pronged strategy to reduce exposure to those allergens and irritants that make a patient’s asthma worse.

INSULIN - DEGLUDEC - The new insulin - yet to hit the market...

Insulin degludec (IDeg) is a new basal insulin that forms soluble multihexamer assemblies after subcutaneous injection, resulting in an ultra-long action profile.

Degludec has an action duration of more than 24 hours.

RASopathy - What are they?

The RAS pathway is a part of the body that regulates each person's growth and function. It is critical to each person's normal, early development. If this pathway is disrupted by a genetic change in a child's development, there can be a variety of symptoms, including skin changes, heart defects, problems with muscles, bones, eyesight and learning abilities. In some cases, there is an increased risk of developing tumors or cancer.


The RASopathies are developmental syndromes caused by germline mutations in genes that alter the Ras subfamily and Mitogen-activated protein kinase that control Signal transduction


Examples:

• Capillary malformation-AV malformation syndrome
• Autoimmune lymphoproliferative syndrome
• Costello syndrome
• Hereditary Gingival fibromatosis type 1
• Legius syndrome
• LEOPARD syndrome
• Neuro-cardio-facial-cutaneous syndromes
• Neurofibromatosis type 1
• Noonan syndrome

Courtesy: Wikkipedia and Univ of Wisconsin

Diphtheria

Caused by Corynebacterium diphtheriae.
The bacteria most commonly infects the nose and throat. The throat infection causes a gray to black, tough, fiber-like covering, which can block the airways. In some cases, diphtheria may first infect the skin, producing skin lesions.

Signs and tests

The health care provider will perform a physical exam and look inside your mouth. This may reveal a gray to black covering (pseudomembrane) in the throat, enlarged lymph glands, and swelling of the neck or larynx.

Tests used may include:
Gram stain or throat culture to identify Corynebacterium diphtheriae
Electrocardiogram (ECG)

Treatment

If the health care provider thinks you have diphtheria, treatment should be started immediately, even before test results are available.

Diphtheria antitoxin is given as a shot into a muscle or through an IV (intravenous line). The infection is then treated with antibiotics, such as penicillin and erythromycin.

The death rate is 10%

Complications

The most common complication is inflammation of the heart muscle (myocarditis). The nervous system is also frequently and severely affected, which may result in temporary paralysis.

The diphtheria toxin can also damage the kidneys.

Courtesy of Centers for Disease Control and Prevention AND NIH

Tuberous Sclerosis - An overview

The name, composed of the Latin tuber (swelling) and the Greek skleros (hard)



Tuberous sclerosis is inherited in an autosomal dominant pattern of inheritance, and penetrance is variable.

In infants, the first clue is often the presence of seizures, delayed development or white patches on the skin.
A full clinical diagnosis involves
Taking a personal and family history.
Examining the skin under a Wood's lamp (hypomelanotic macules), the fingers and toes (ungual fibroma), the face (angiofibromas) and the mouth (dental pits and gingival fibromas).
Cranial imaging with non enhanced CT or, preferably, MRI (cortical tubers and subependymal nodules).
Renal ultrasound (angiomyolipoma or cysts).
An echocardiogram in infants (rhabdomyoma).
Fundoscopy (retinal nodular hamartomas or achromic patch).
The various signs are then marked against the diagnostic criteria to produce a level of diagnostic certainty:
Definite – Either two major features or one major feature plus two minor features.
Probable – One major plus one minor feature.
Suspect – Either one major feature or two or more minor features.
Due to the wide variety of mutations leading to TSC, there are no simple genetic tests available to identify new cases. Nor are there any biochemical markers for the gene defects.
However, once a person has been clinically diagnosed, the genetic mutation can usually be found. The search is time-consuming and has a 15% failure rate, which is thought to be due to somatic mosaicism. If successful, this information can be used to identify affected family members, including prenatal diagnosis. As of 2006, preimplantation diagnosis is not widely available.

Thankyou Wikipedia!