Saturday, September 27, 2014

Budd Chiari Syndrome

Budd Chiari Syndrome (BCS) is related to an obstruction of the hepatic veins that drain the liver (venous outflow tract at the hepatic veins or the inferior vena cava).  The obstruction leads to hepatic congestion, release of free radicals, oxydative injury and ischemic necrosis (death of liver tissues due to stop of blood circulation).
More about Budd Chiari Syndrome

Budd Chiari Syndrome

  • Budd Chiari Syndrome (BCS) is related to an obstruction of the hepatic veins that drain the liver (venous outflow tract at the hepatic veins or the inferior vena cava). 
  • The obstruction leads to hepatic congestion, release of free radicals, oxydative injury and ischemic necrosis (death of liver tissues due to stop of blood circulation).
  • Frequency remains largely unknown but estimates range between 1/50,000 and 1/100,000.

Myeloproliferative disorders

Myeloproliferative disorders is the name for a group of conditions that cause blood cells -- platelets, white blood cells, and red blood cells -- to grow abnormally in the bone marrow.
  • Polycythemia vera. 
  • Essential thrombocytosis  
  • Primary or idiopathic myelofibrosis, also known as myelosclerosis 
  • Chronic myelogenous leukemia (CML)

Friday, September 26, 2014

Alpha-fetoprotein

Alpha-fetoprotein (AFP) is the main protein of fetal serum. It is usually undetectable after birth. Alpha-fetoprotein is produced by the liver and the yolk sac of the fetus, crosses the placenta, enters the amniotic fluid and can also be detected into the maternal blood. It's the main protein during the first three months of development. AFP greatly decreases by age 1 and should only be found  in very low levels in non-pregnant adults.

Thursday, September 25, 2014

Alpha-fetoprotein

Alpha-fetoprotein is a protein normally produced by a fetus. Alpha-fetoprotein levels are usually undetectable in the blood of healthy adult men or women (who are not pregnant). An elevated level of alpha-fetoprotein suggests the presence of either a primary liver cancer or germ cell tumor. Also called AFP.
More about alpha-fetoprotein or AFP

Wednesday, September 24, 2014

Trisomy 18 (full article)

Source: Anna Cereda M.D and John C Carey M.D Orphanet Journal of Rare Diseases

Definition

The trisomy 18 syndrome, also known as Edwards syndrome, is a common autosomal chromosomal disorder due to the presence of an extra chromosome 18. The first reported infants were described in 1960 by Edwards et al. and Smith et al. [1,2]. The syndrome pattern comprises a recognizable pattern of major and minor anomalies, an increased risk of neonatal and infant mortality, and significant psychomotor and cognitive disability.

Tuesday, September 23, 2014

Trisomy 18

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q.
The condition is the second most common autosomal trisomy syndrome after trisomy.
More about trisomy 18

Trisomy 18 (in short)

Source: Anna Cereda M.D and John C Carey M.D Orphanet Journal of Rare Diseases
  • The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q.
  • The condition is the second most common autosomal trisomy syndrome after trisomy 21. 
  • The live born frequency is estimated as 1/6,000-1/8,000, but the overall frequency is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. 
  • The frequency of trisomy 18 rises with the increasing maternal age. 
  • The recurrence risk for a family with a child with full trisomy 18 is about 1%.
  • Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). 
  • The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition.
  • Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. 
  • The major causes of death include central apnea (suspension of  breathing), cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. 
  • The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations. 

Hashimoto's thyroiditis

Thyroiditis is the medical term for inflammation (swelling) of the thyroid gland, which can either cause abnormally low or high levels of thyroid hormones in the blood.

The thyroid gland is a butterfly-shaped gland found in the neck. It produces hormones that are released into the bloodstream to control the body's growth and metabolism. They affect processes such as heart rate and body temperature, and help convert food into energy to keep the body going.
Symptoms vary depending on the type of thyroiditis.

Thyroiditis

Thyroiditis is the medical term for inflammation (swelling) of the thyroid gland, which can either cause abnormally low or high levels of thyroid hormones in the blood.
The thyroid gland is a butterfly-shaped gland found in the neck. It produces hormones that are released into the bloodstream to control the body's growth and metabolism. They affect processes such as heart rate and body temperature, and help convert food into energy to keep the body going.
Symptoms vary depending on the type of thyroiditis.
More about Thyroiditis

Monday, September 22, 2014

CA 19-9

CA 19-9 is a tumor marker. Tumor markers are substances that are produced by cancer or by other cells of the body in response to cancer or certain benign (noncancerous) conditions. Most tumor markers are made by normal cells as well as by cancer cells; however, they are produced at much higher levels in cancerous conditions.


CA 19-9 is the most extensively studied and validated serum biomarker for the diagnosis of pancreatic cancer in symptomatic patients. CA 19-9 serum levels can provide important information with regards to prognosis, overall survival, and response to chemotherapy as well as predict post-operative recurrence. However, there's non-specific expression of CA 19-9 in several benign and malignant diseases


CA19-9 is usually measured by a blood test.


CA 19-9 serum levels may also be elevated in in several benign and malignant diseases, pancreatic and non-pancreatic


Other conditions associated with elevated serum CA 19-9 levels include:
  • ovarian cyst
  • heart failure
  • Hashimoto's thyroiditis
  • rheumatoid arthritis
  • diverticulitis
  • choledocholithiasis, gallbladder cancer and cholangiocarcinoma
  • CA 19-9 serum levels alone cannot differentiate between benign, precursor lesions and malignant pancreatic conditions such as acute and chronic pancreatitis, intraductal pancreatic mucinous neoplasms (IPMN), pancreatic intra-epithelial neoplasia (PANIN) and pancreatic cancer.
Sources: National Cancer Institute /  U K Ballehaninna; R S Chamberlain Journal of Gastrointestinal Oncology

Cholangiocarcinoma

Sources: , M.D.

Cholangiocarcinoma (CCA) is a biliary tract cancer (a cancer that starts in a bile duct) originating in the epithelium of the biliary tree, either intra or extra hepatic.

CEA

CEA is a tumor marker, a substance that may be found in the blood of people who have colon cancer, other types of cancer or diseases, or who smoke tobacco. Carcinoembryonic antigen levels may help keep track of how well cancer treatments are working or if cancer has come back. It is a type of tumor marker.

CA 19-9

CA 19-9 is a tumor marker. Tumor markers are substances that are produced by cancer or by other cells of the body in response to cancer or certain benign (noncancerous) conditions. Most tumor markers are made by normal cells as well as by cancer cells; however, they are produced at much higher levels in cancerous conditions.


CA 19-9 is the most extensively studied and validated serum biomarker for the diagnosis of pancreatic cancer in symptomatic patients. CA 19-9 serum levels can provide important information with regards to prognosis, overall survival, and response to chemotherapy as well as predict post-operative recurrence. However, there's non-specific expression of CA 19-9 in several benign and malignant diseases


CA19-9 is usually measured by a blood test.


CA 19-9 serum levels may also be elevated in in several benign and malignant diseases, pancreatic and non-pancreatic


Other conditions associated with elevated serum CA 19-9 levels include:
  • ovarian cyst
  • heart failure
  • hashimoto's thyroiditis
  • rheumatoid arthriti
  • diverticulitis
  • choledocholithiasis, gallbladder cancer and cholangiocarcinoma. 
  • CA 19-9 serum levels alone cannot differentiate between benign, precursor lesions and malignant pancreatic conditions such as acute and chronic pancreatitis, intraductal pancreatic mucinous neoplasms (IPMN), pancreatic intra-epithelial neoplasia (PANIN) and pancreatic cancer.
Sources: National Cancer Institute /  U K Ballehaninna; R S Chamberlain Journal of Gastrointestinal Oncology

Primary sclerosing cholangitis

  • Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease of unknown causes characterised by inflammation and fibrosis of the biliary tree. 
  • The mean age at diagnosis is 40 years and men are affected twice as often as women. There is a reported annual incidence of PSC of 0.9 to 1.31 in 100,000 and point prevalence of 8.5 to 13.6 in 100,000. 
  • The onset of PSC is usually insidious and many patients are asymptomatic at diagnosis or have mild symptoms only such as fatigue, abdominal discomfort and pruritus (itching). In late stages, splenomegaly (enlargment of the spleen) and jaundice may be a feature. 
  • In most, the disease progresses to cirrhosis and liver failure. Cholangiocarcinoma (cancer of the bile ducts) develops in 8 to 30% of patients. 
  • PSC is thought to be immune mediated and is often associated with inflammatory bowel disease, especially ulcerative colitis. 
  • The disease is diagnosed on typical cholangiographic and histological findings (X-ray examination and biopsy by endoscopic way) and after exclusion of secondary sclerosing cholangitis. 
  • Median survival has been estimated to be 12 years from diagnosis in symptomatic patients. Patients who are asymptomatic at diagnosis, the majority of whom will develop progressive disease, have a survival rate greater than 70% at 16 years after diagnosis. 
  • Liver transplantation remains the only effective therapeutic option for patients with end-stage liver disease from PSC, although high dose ursodeoxycholic acid (Ursodiol, Actigall, Urso Forte, Urso 250) may have a beneficial effect.
  • Source: Dr Roger CHAPMAN MD; Dr Joy WORTHINGTON MD. Orphanet






Splenomegaly

Splenomegaly is an enlargment of the spleen that can have many causes including infections, liver diseases, blood diseases, cancer.

Saturday, September 20, 2014

Bladder Pain Syndrome

Source: Pr Christian SAUSSINE.MD Orphanet

Bladder Pain Syndrome (BPS), also known is interstitial cystitis (IC) and painful bladder syndrome, is characterised by pelvic pain associated with bladder filling, pollakiuria (abnormally frequent urination) with a voiding frequency of more than eight urinations per day and more than two urinations per night, cystoscopic lesions (petechiae i.e a reddish spot containing blood that appears in inner membrane of the bladder as a result of localized hemorrhage, Hunner's ulcers i.e areas of inflammation on the bladder wall) revealed by a bladder hydrodistention test, and/or histological anomalies such as inflammatory mononuclear cell infiltrates and tissue granulation, in the absence of infection or any other pathology.

Hunner's ulcers

Hunner's ulcers, also called "Hunner’s lesions" or "Hunner's patches," are areas of inflammation on the bladder wall that characterize the “classic” form of Intersticial Cystitis, that is a bladder pain syndrome.
More about intersticial cystitis

Friday, September 19, 2014

Cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

Vas deferent

The vas deferens is a tube that delivers sperm from the testes to the penis.

Meconium ileus

Meconium is the first stool of a newborn. This stool is very thick and sticky. Meconium ileus is a bowel obstruction that occurs when the meconium is thicker and stickier than normal meconium, creating a blockage of the small intestine. Most infants with meconium ileus have cystic fibrosis.

Thursday, September 18, 2014

Alopecia universalis

Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.
More about alopecia areata

Alopecia totalis

Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.
More about alopecia areata

Alopecia areata

Alopecia areata is an autoimmune disease that affects almost 2% of the US population, including more than five million people in the United States alone. In alopecia areata, the affected hair follicles are mistakenly attacked by a person's own immune system (white blood cells), resulting in the arrest of the hair growth stage. Alopecia areata usually starts with one or more small, round, smooth bald patches on the scalp and can progress to total scalp hair loss (alopecia totalis) or complete body hair loss (alopecia universalis). Any hair-bearing site on the body can be affected by alopecia areata. Hair loss can often occur without any accompanying symptoms.
More about alopecia areata

Alopecia areata

Source: National Institute of Arthritis and Musculoskeletal and Skin Diseases

What Causes It?

In alopecia areata, immune system cells called white blood cells attack the rapidly growing cells in the hair follicles. The affected hair follicles become small and drastically slow down hair production. Fortunately, the stem cells that continuously supply the follicle with new cells do not seem to be targeted. So the follicle always has the potential to regrow hair.
Scientists do not know exactly why the hair follicles undergo these changes, but they suspect that a combination of genes may predispose some people to the disease. In those who are genetically predisposed, some type of trigger—perhaps a virus or something in the person’s environment—brings on the attack against the hair follicles.

Wednesday, September 17, 2014

Hair loss

Hair loss is also called: Alopecia

You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition.

Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration.
More about alopecia and hair loss
More about alopecia areata

Tuesday, September 2, 2014

Fahr’s syndrome

Basal ganglia calcification is also known as Fahr’s disease or Fahr’s syndrome. It is a rare inherited or sporadic neurological disorder with a prevalence of <1/1,000,000 .
It was first described by German neurologist Karl Theodor Fahr in 1930 .
It is characterized by abnormal deposition of calcium in areas of the brain that control movements including basal ganglia, thalamus, dentate nucleus, cerebral cortex, cerebellum, subcortical white matter, and hippocampus.
Most cases present with extra pyramidal symptoms (atypical involuntary muscle contractions that influence gait, movement, and posture) initially. Additionally, they may present with cerebellar dysfunction, speech difficulty, dementia and neuropsychiatric symptoms
Source: Orphanet Journal of Rare Diseases.

Dermatoleukodystrophy

This syndrome is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.

Leukodystrophies

The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body.

This leads to problems with
  • Movement
  • Speaking
  • Vision
  • Hearing
  • Mental and physical development

Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time.

There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies.