Oesophageal atresia (in short)

• Oesophageal atresia (OA) encompasses a group of congenital anomalies comprising of an interruption of the continuity of the oesophagus with or without a persistent communication with the trachea.
• In 86% of cases there is a distal tracheooesophageal fistula, in 7% there is no fistulous connection, while in 4% there is a tracheooesophageal fistula without atresia.
• OA occurs in 1 in 2500 live births.
• Infants with OA are unable to swallow saliva and are noted to have excessive salivation requiring repeated suctioning.
• Associated anomalies occur in 50% of cases, the majority involving one or more of the VACTERL association (vertebral, anorectal, cardiac, tracheooesophageal, renal and limb defects).
• The causes are largely unknown and are likely to be multifactorial, however, various clues have been uncovered in animal experiments particularly defects in the expression of the gene Sonic hedgehog (Shh).
• The vast majority of cases are sporadic (isolated) and the recurrence risk for siblings is 1%. 
• The diagnosis may be suspected prenatally by a small or absent stomach bubble on antenatal ultrasound scan at around 18 weeks gestation. The likelihood of an atresia is increased by the presence of polyhydramnios. 
• A nasogastric tube should be passed at birth in all infants born to a mother with polyhydramnios as well as to infants who are excessively mucusy soon after delivery to establish or refute the diagnosis.
• In OA the tube will not progress beyond 10 cm from the mouth (confirmation is by plain X-ray of the chest and abdomen). 
• Definitive management comprises disconnection of the tracheooesophageal fistula, closure of the tracheal defect and primary anastomosis of the oesophagus. 
• Where there is a "long gap" between the ends of the oesophagus, delayed primary repair should be attempted. 
• Only very rarely will an oesophageal replacement be required. 
• Survival is directly related to birth weight and to the presence of a major cardiac defect. Infants weighing over 1500 g and having no major cardiac problem should have a near 100% survival, while the presence of one of the risk factors reduces survival to 80% and further to 30–50% in the presence of both risk factors. 
• Source: Pr Lewis Spitz. University College London. Orphanet Journal of Rare Diseases

Oesophageal atresia

Source: Pr Lewis Spitz. University College London. Orphanet Journal of Rare Diseases

Definition

Oesophageal atresia encompasses a group of congenital anomalies comprising an interruption of the continuity of the oesophagus combined with or without a persistent communication with the trachea.

Thrush

Source: Center for Disease Control

Definition

Candidiasis of the mouth and throat, also known as “thrush" or oropharyngeal candidiasis, is a fungal infection that occurs when there is overgrowth of a yeast called Candida. Candida yeasts normally live on the skin or mucous membranes in small amounts. However, if the environment inside the mouth or throat becomes imbalanced, the yeasts can multiply and cause symptoms. Candida overgrowth can also develop in the esophagus, and this is called Candida esophagitis, or esophageal candidiasis. 

Marfan syndrome

Source: Pr Guillaume JONDEAU MD. Orphanet 

Definition

Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.

Lupus (in short)

• Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease, which is autoimmune in origin and is characterized by the presence of autoantibodies directed against nuclear antigens. 
• It is a multi-system disease, and patients can present in vastly different ways. 
• Frequency varies with ethnicity, but is estimated to be about 1 per 1000 overall with a female to male ratio of 10:1. 
• The clinical heterogeneity of this disease mirrors its complex causes, which highlights the importance of genetic factors and individual susceptibility to environmental factors. 
• Lupus can affect every organ in the body. The most common manifestations include rash, arthritis and fatigue. 
• At the more severe end of the spectrum, lupus can cause nephritis, neurological problems, anaemia and thrombocytopaenia. 
• Over 90% of patients with lupus have positive anti-nuclear antibodies (ANA). Significant titres are accepted to be of 1:80 or greater. 
• Lupus is a relapsing and remitting disease, and treatment aims are threefold: managing acute periods of potentially life-threatening ill health, minimizing the risk of flares during periods of relative stability, and controlling the less life-threatening, but often incapacitating day to day symptoms. 
• Hydroxychloroquine (Plaquenil) and non-steroidal anti-inflammatory drugs are used for milder disease; 
• corticosteroids and immunosuppressive therapies are generally reserved for major organ involvement;
• anti-CD20 monoclonal antibody is now used in patients with severe disease who has not responded to conventional treatments. 
• Despite enormous improvements in prognosis since the introduction of corticosteroids and immunosuppressive drugs, lupus continues to have a significant impact on the mortality and morbidity of those affected. 
• Authors:   Jessica J Manson and Anisur Rahman. Orphanet Journal of Rare Diseases

Systemic lupus erythematosus

Authors:   Jessica J Manson and Anisur Rahman. Orphanet Journal of Rare Diseases

Definition/Diagnostic criteria

Systemic lupus erythematosus (SLE) is a  clinically heterogeneous disease which is autoimmune in origin, and characterized by the presence of autoantibodies directed against nuclear antigens. It is, by definition, a multi-system disease, and patients can present in vastly different ways.

Sarcoidosis (in short)

• Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. 
• It is an ubiquitous disease with frequency (varying according to age, sex, race and geographic origin) estimated at around 16.5/100,000 in men and 19/100,000 in women. 
• The lung and the lymphatic system are predominantly affected but virtually every organ may be involved. 
• Other severe manifestations result from cardiac, neurological, ocular, kidney or laryngeal localizations.
• In most cases, sarcoidosis is revealed by persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and erythema nodosum. 
• Abnormal metabolism of vitamin D3 within granulomatous lesions and hypercalcemia are possible.
• Chest radiography is abnormal in about 90% of cases and shows lymphadenopathy and/or pulmonary infiltrates (without or with fibrosis), defining sarcoidosis stages from I to IV. 
• The causes remains unknown but the prevailing hypothesis is that various unidentified, likely poorly degradable antigens of either infectious or environmental origin could trigger an exaggerated immune reaction in genetically susceptible hosts. 
• Diagnosis relies on compatible clinical and radiographic manifestations, evidence of non-caseating granulomas obtained by biopsy through tracheobronchial endoscopy or at other sites, and exclusion of all other granulomatous diseases. 
• The evolution and severity of sarcoidosis are highly variable. Mortality is estimated at between 0.5–5%. 
• In most benign cases (spontaneous resolution within 24–36 months), no treatment is required but a regular follow-up until recovery is necessary. 
• In more serious cases, a medical treatment has to be prescribed either initially or at some point during follow-up according to clinical manifestations and their evolution. 
• Systemic corticosteroids are the mainstay of treatment of sarcoidosis. 
• The minimal duration of treatment is 12 months. Some patients experience repeated relapses and may require long-term low-dose corticosteroid therapy during years. 
• Other treatments (immunosuppressive drugs and aminoquinolins) may be useful in case of unsatisfactory response to corticosteroids, poor tolerance and as sparing agents when high doses of corticosteroids are needed for a long time. 
• In some strictly selected cases refractory to standard therapy, specific antiTNF-α agents may offer precious improvement. Some patients benefit from topical corticosteroids. 
• Authors:  Hilario Nunes, Diane Bouvry, Paul Soler and Dominique Valeyre. Orphanet Journal of Rare Diseases

Sarcoidosis

Authors:  Hilario Nunes, Diane Bouvry, Paul Soler and Dominique Valeyre. Orphanet Journal of Rare Diseases

Definition
Sarcoidosis is a multisystemic disorder of unknown cause that is characterized by the formation of immune granulomas in involved organs [1-4].

Celiac disease (in short)

Authors:  Wolfgang Holtmeier and Wolfgang F Caspary. Orphanet Journal of rare Diseases

• Celiac (or coeliac) disease is a chronic intestinal disease caused by intolerance to gluten (a protein that is found in some cereals). 
• It is characterized by immune-mediated enteropathy (auto-immune disease), associated with maldigestion and malabsorption of most nutrients and vitamins. 
• In predisposed individuals, the ingestion of gluten-containing food such as wheat barley, triticale and rye induces a flat jejunal mucosa with infiltration of lymphocytes. 
• The main symptoms are: stomach pain, gas, and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. 
• Frequency of celiac disease varies from 1:270 in Finland to 1:5000 in North America. 
• Since celiac disease can be asymptomatic (without any symptom), most subjects are not diagnosed or they can present with atypical symptoms. Furthermore, severe inflammation of the small bowel can be present without any gastrointestinal symptoms. 
• The diagnosis should be made early since celiac disease causes growth retardation in untreated children and atypical symptoms like infertility or neurological symptoms. 
• Diagnosis requires endoscopy with jejunal biopsy. 
• In addition, tissue-transglutaminase antibodies (blood sample) are important to confirm the diagnosis since there are other diseases which can mimic celiac disease. 
• The exact cause of celiac disease is unknown but is thought to be primarily immune mediated (tissue-transglutaminase autoantigen); often the disease is inherited. 
• Management consists in life long withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology (the microscopic study of tissues) can take years.

Celiac disease

 

Authors:  Wolfgang Holtmeier and Wolfgang F Caspary. Orphanet Journal of rare Diseases

Definition

Celiac disease is a chronic intestinal disease mostly associated with malabsorption caused by intolerance to gluten. It is characterized by immune-mediated enteropathy (villous flattening), resulting in maldigestion and malabsorption. Clinical and histological improvement can be obtained after withdrawal of dietary gluten.

Healthy heart, healthy brain

Cardiovascular health (CVH) plays a critical role in brain health. Several cardiovascular risk factors, including hypertension, diabetes, and obesity, are related to higher risk for cognitive decline (impairment of memory, decisions, judging the time, completing a complex task, visual perception...).
Prevention strategies targeting modifiable factors and behaviors are important for reducing risks for cognitive decline and dementia.
Life's Simple 7 is a new metric based on modifiable health behaviors and factors that the American Heart Association uses to promote improvements to cardiovascular health (CVH): nonsmoking, healthy diet, physical activity, and body mass index (BMI), blood pressure (BP), total cholesterol, and fasting glucose.
 Compared with low cardiovascular health, intermediate and high levels of cardiovascular health are both associated with substantially lower incidence of cognitive impairment.
Source: American Heart Association

Youth Risk Behavior United States, 2013

Many high school students in the USA engage in behaviors at risk for disease and mortality, according for the results of the Youth Risk Behavior Surveillance System 2013 report.

• 41.4% of high school students nationwide who drove a car or other vehicle had texted or e-mailed while driving, 
• 34.9% had drunk alcohol, and 23.4% had used marijuana. 
• 14.8% had been electronically bullied, 
• 19.6% had been bullied on school property, and 
• 8.0% had attempted suicide. 
• Many high school students are engaged in sexual risk behaviors that contribute to unintended pregnancies and Sexually Transmitted Infections, including HIV infection.

Some risk behaviors have decreased (physical fighting, cigarette use, and sexual activity) while some have increased (having not gone to school because of safety concern, obesity and overweight) and some have not changed (suicide attempts treated by a doctor or nurse, having ever used marijuana, and having drunk alcohol or used drugs before last sexual intercourse).
The good news is that current cigarette smoking among high school students is at its lowest level in more than 20 years.
Source: CDC

Familial adenomatous polyposis

Authors: Elizabeth Half , Dani Bercovich  and Paul Rozen . Orphanet Journal of Rare Diseases


Definition

Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life.

Hemophilia

Tsarevich of Russia

Authors:  Antonio Liras MD, Cristina Segovia MD and Aline S Gabán MD. Orphanet journal of rare diseases   

Hemophilia is a recessive X-linked hereditary disorder (X-linked recessive diseases usually occurs in males who have inherited a recessive X-linked mutation from their mother) caused by a deficiency of coagulation factor VIII (hemophilia A) or IX (hemophilia B). The disease is considered to be severe when factor levels are below 1% of normal values, moderate when they are between 1 and 5% and mild when levels range between 5% and 40% [1].

Behcet's Disease

Authors:  David Saadoun MD, Bertrand Wechsler MD. Orphanet Journal of Rare Diseases. April 2012

 

What's Behçet's Disease?

Behçet disease (BD) is a chronic, relapsing, multisystemic disorder characterized by mucocutaneous, ocular, vascular and central nervous system manifestations.

BD seems to cluster along the ancient Silk Road, which extends from eastern Asia to the Mediterranean basin. European cases are often described, not exclusively in the migrant population.

The clinical spectrum includes oral and genital ulcerations, uveitis, vascular, neurological, articular, renal and gastrointestinal manifestations.

Acromegaly

Authors:  Philippe Chanson MD, Sylvie Salenave MD. Orphanet Journal of rare Diseases.

Definition

Acromegaly is characterized by an acquired progressive somatic disfigurement, mainly involving the face and extremities, but also many other organs, that is associated with systemic manifestations. The disease is related to the excessive production of growth hormone (GH). This GH hypersecretion originates from a monoclonal benign pituitary tumor (adenoma) in more than 90% of cases.

Huntington disease

Source: Pr  Raymund ROOS MD. Orphanet. January 2011

What's Huntington Disease?

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.

A natural protein, Elafin against gluten intolerance?

Source: INSERM and American Journal of Gastroenterology

Scientists from INRA and INSERM (France) in collaboration with scientists from McMaster University (Canada) and the Ecole polytechnique fédérale of Zurich (Switzerland) have shown that Elafin, a human protein, plays a key role against the inflammatory reaction typical of celiac disease (gluten intolerance).

Jet lag

Author : Dr Peremarty MD

To the West, or to the East ?

More than three weeks or less than a week?
For vacations or for work (meeting)?
What kind of sleeper are you ?. Rather a lark, or an owl ?

A few practical advices for the traveller,

to help him/her obey the underlying rules of the sleep mechanisms better

Know how to sleep

 Author: Dr Peremarty MD

«If we know how to sleep, we shall know how to wake» Alain (Propos)
"35 or 45 hours a week? "
Sleep duration is not, alone, a sufficient criterion to judge its quality and efficiency.

There are four key points to understand... to know how to sleep :

Red blood cell types

Source: Food and Drug Administration. May 2014
The surfaces of red blood cells display minor blood group antigens in addition to the major ABO blood group antigens.
Some people develop antibodies to non-ABO antigens following transfusion or pregnancy. This is especially true in people who may receive repeated blood transfusions, such as those with sickle cell disease.
The development of such antibodies can cause red blood cell destruction if red blood cells with the corresponding antigens are later transfused.
Development of antibodies to non-ABO antigens can be prevented by selecting blood that is better matched to the patient‘s non-ABO antigens. In addition, when a potential transfusion recipient has a known antibody that causes red blood cell destruction, red blood cells that are negative for the corresponding antigen must be found.
The identification of red blood cell antigens has traditionally been performed by serological typing. This involves testing blood with reagents (antisera) that are specific for the antigens for which the blood is being tested. However, specific antisera may be scarce or unavailable.
A new and alternative method has been approved. It works by detecting genes that govern the expression of 36 antigens that can appear on the surface of red blood cells. The test uses thousands of coded beads that bind with the genes coding for non-ABO red blood cell antigens that are present in a blood sample. A light signal is generated from each bead that has captured a specific gene. Accompanying computer software decodes the light signals and reports which antigens are predicted to be present on the red cells based on the genes that are detected.
Performance is comparable between the two methods.

Parasomnias

Author: Dr Peremarty MD

Parasomnias are unwanted and uncontrolable events which happen during sleep.

They can be distinguished according to whether they occur during sleep onset, slow wave sleep or REM sleep.

• Those which occur in REM sleep are combined with affective disturbances and physiological stress reactions (fear, sweat, heart rate acceleration).
• The others (during slow wave sleep), on the other hand, leave the sleeper with very few memories.

Sleep apnea syndrome

Author : Dr Peremarty MD. 

Unlike the insomniac subject (who knows how long a night can be), the pathological snorer considers him/herself like a « good sleeper » and generally reports no bad memories from his/her nights.

Identified since 1965 in obese and sleepy subjects , the Obstructive Sleep Apnea syndrome (OSA) has been defined in 1972 and its «revolutionary » treatment, which consists in keeping a positive air pressure in the upper airways, was found in 1981.
25 years later, more than 100.000 people enjoy, thanks to that, a normal life expectancy but it is estimated that there remain four times more sick people who need to be detected.

Autoimmune Diseases

Source: Food and Drug Administration. Nov 2013

Autoimmune diseases are disorders in which the immune system attacks the body's own cells. They are among the most prevalent classes of public health problems. 

Membranous glomerulonephritis

Source: Food and Drug Administration. May 2014
Membranous glomerulonephritis (MGN) is a specific type of kidney disease, due to the body’s rejection of its own kidney tissue (autoimmune) or due to another cause (such as an infection).