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Tuesday, December 14, 2010
Heart-Hand syndrome ((Holt-Oram))
Holt-Oram syndrome or heart-hand syndrome, is an inherited disorder characterized by abnormalities of the upper limbs and heart.
People with Holt-Oram syndrome have abnormal development of bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Often, these wrist bone abnormalities can be detected only by X-ray. Individuals with Holt-Oram syndrome may have additional bone abnormalities including a missing thumb, a long thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades.
The disease is due to mutations in the transcription factor TBX5, which is important in the development of both the heart and upper limbs.
Note that Abnormalities may be unilateral or bilateral and asymmetric ( usually the left side is more affected).
About 75 percent of individuals with Holt-Oram syndrome have some cardiac abnormality. In most patients, the abnormality is either an atrial septal defect (ASD) or a ventricular septal defect (VSD), which varies in number, size, and location.
A 10 years old girl presents with multiple pigmented macules on the vermilion border of her lower lip.The dark brown lesions are 2–5 mm in size and are arranged in a cluster.The patient’s older brother has similar lesions. The patient complains of recurrent bouts of abdominal pain. the most likely diagnosis is?..............
Posteroanterior radiograph shows a multitude of fairly well-circumscribed nodules and masses ranging in diameter from 1 to 5 cm, scattered randomly throughout both lungs with no notable anatomic predilection. No cavitation is apparent, and there is no evidence of calcification.
This patient, a 56-year-old man, had been a coal miner for many years and in recent years had developed arthralgia, which proved to be due to rheumatoid arthritis. As a means of establishing the nature of the pulmonary nodules, a percutaneous needle aspiration was performed on the large mass situated in the lower portion of the left lung (arrowheads): Several milliliters of inky black fluid were aspirated.
propofol infusion syndrome: a simple name for a complex syndrome.
It was revealed just recently that Propofol, a short-acting, intravenously administered sedative agent is what might have caused the cardiac arrest of the King of Pop, Michael Jackson.
Propofol infusion syndrome (PRIS) is a rare and often fatal syndrome described in critically ill children undergoing long-term propofol infusion at high doses. Recently several cases have been reported in adults, too.
The main features of the syndrome consist of cardiac failure, rhabdomyolysis, severe metabolic acidosis and renal failure.
To date 21 paediatric cases and 14 adult cases have been described. These latter were mostly patients with acute neurological illnesses or acute inflammatory diseases complicated by severe infections or even sepsis, and receiving catecholamines and/or steroids in addition to propofol.............
The May-Thurner syndrome is the symptomatic compression of the left common iliac vein between the right common iliac artery and the lumbar vertebrae.
The normal anatomy is that the artery which runs to the right leg (= right common iliac artery) lies on top of the vein coming from the left leg (= left common iliac vein). This close proximity leads, in some people, to pressure of the artery onto the vein and to varying degrees of narrowing of the vein. This is referred to as "May Thurner syndrome". It is not a disease but a congenital anatomic variant. Mild and moderate degrees of narrowing are typically asymptomatic. More severe degrees can lead to obstruction of blood flow from the leg and thus to leg swelling and pain. The narrowed vein can also clot, resulting in left leg DVT.
The syndrome is named after the authors R. May and J. Thurner, who first described this phenomenon in 1957. It has also been termed the iliac compression syndrome. It is probably the reason why more DVTs occur in the left than in the right leg.
Compression of the iliac vein has been documented in approximately 50% of patients with left iliac vein thrombosis.
Several surgical treatment strategies have been employed in the past:
venous bypass surgery of the narrowed area;
cutting of the iliac artery and repositioning of the artery behind the iliac vein;
construction of a tissue sling or flap to lift it off the iliac vein;
Since 1995 venous stents have been placed into the narrowed area, to pry them open . Unfortunately, there are no large studies that (a) investigate the long-term success of the procedure, i.e. how often the stents improve symptoms and remain patent. (b) whether patients should remain on long-term (lifelong) coumadin (warfarin) or not. Stents appear beneficial at least in the short-term improvement of symptoms, within the first 1-2 years of stent placement .
How is difficult to diagnose Chronic fatigue syndrome
Chronic fatigue syndrome is a common chronic pain disorder that causes severe fatigue that does not improve with rest. Chronic fatigue syndrome tends to get worse after exercise or mental activity. Severe or untreated chronic fatigue syndrome can lead to serious disruptions of work, school, relationships, and social activities. Chronic fatigue syndrome can also result in disability and severely impact a person's quality of life.
the causes of chronic fatigue syndrome are not known . One theory is that it develops out of a combination of factors, such as viral infection, stress, and exposure to toxins. Chronic fatigue syndrome can run in families, so genetic factors may increase the risk of developing the disorder. The prevalence of chronic fatigue syndrome is higher among adults 30–39 years old than among those over 60 and women > men.
There is no specific test to detect it.so,it is difficult to diagnosed.Diagnosing chronic fatigue syndrome requires running many tests to rule-out other diseases and disorders that have similar symptoms. Making a diagnosis of chronic fatigue syndrome includes performing a complete evaluation that includes a medical history, including symptoms, and physical examination.
How is difficult to diagnose Chronic fatigue syndrome
Two physicians independently reported the first recognized cases of BWS in the 1960’s.It is a rare genetic disorder. The etiology of Beckwith-Wiedemann syndrome is complex and genetic and/or epigenetic alterations have been described. In approximately 15% of patients, Beckwith-Wiedemann syndrome is inherited as an autosomal dominant pattern with variable expressivity and incomplete penetrance; 2% of patients have ............
What is Red man syndrome??
It is an infusion-related reaction peculiar to vancomycin.Typically it consists of pruritus, an erythematous rash that involves the face, neck, and upper torso...............
Ehlers-Danlos syndrome (EDS) is the name given to a group of more than 10 different inherited disorders; all involve a genetic defect in collagen and connective-tissue synthesis and structure.
Ehlers-Danlos syndrome can affect the skin, joints, and blood vessels. This syndrome is clinically heterogeneous; the underlying collagen abnormality is different for each type. Clinical recognition of the types of Ehlers-Danlos syndrome is important. One type, type IV, is associated with arterial rupture and visceral perforation, with possible life-threatening consequences.
Clinical: History The biochemical collagen defect is present at birth, but clinical manifestations become evident later.
1- Muscle weakness is often present, and patients report a tendency to fall down easily and have poor body control.
2-Sometimes, patients have difficulty walking.
3-Mental development is normal.
4- The newly described tenascin-X–deficient form was described in 8 patients with hyperelastic skin and hypermobile joints.
* Each patient bruised easily, and most had velvety skin.
* A few patients also had joint pain and multiple subluxations.
* None had delayed wound healing or atrophic scars.
* Additional findings in some patients included congenital adrenal hyperplasia, mitral valvular prolapse, stroke, gut bleeding, and premature arteriosclerosis.
5- Dental pathology is common in these patients. Findings include hypodontia of permanent teeth, delayed eruption, and dentin dysplasia.
6-In one patient, splenic rupture due to peliosis led to the diagnosis of vascular Ehlers-Danlos syndrome.
7- Multiple sclerosis can be associated with Ehlers-Danlos syndrome.
8- Absence of the inferior labial or lingual frenula in Ehlers-Danlos syndrome patients has been suggested as a new diagnostic criterion.
9-Ehlers-Danlos syndrome and anorexia nervosa have been described in the same patient.
Physical To date, 11 variants of Ehlers-Danlos syndrome are identified; all have genetic, biochemical, and clinical differences. More than one third of persons with Ehlers-Danlos syndrome do not fit exactly into a single type; overlap is common.
* Common to almost all groups is a unique appearance of the skin.
The skin is usually white and soft, and underlying vessels are sometimes visible.
The skin has a doughy feel.
The skin is easily hyperextensible. It is easy to pull, and, once released, it immediately returns to its original state.
* Molluscoid pseudotumors are small, spongy tumors found over scars and pressure points.
Molluscoid pseudotumors consist of fat surrounded by a fibrous capsule.
They are commonly seen in patients with type I.
* Smaller, deep, palpable, and movable nodules are often present in the subcutaneous tissue.
These nodules can be found in the arms and over the tibias.
Calcification leads to opacity on radiographs.
* Fragility of dermal skin is common, with frequent bruises and lacerations.
Poor wound healing is not rare.
The use of sutures is usually a problem in patients, in whom easy dehiscence and cigarette-paper–like scars may be observed. Frequently, these scars are found on the knees.
* The joints are hyperextensible, sometimes dramatically, but the degree of involvement is variable.
The digit joints are most commonly affected, but all the joints can show alterations.
Dislocations can occur, but patients are usually able to quickly reduce them with no pain.
