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Severity of coarctation and location of aneurysm clearly
Severity of coarctation and location of aneurysm clearly

... The German Heart Institute Berlin (DHZB) is a hospital noted for its treatment of cardiac, thoracic and vascular disease, artificial heart implantations, and transplantations of the heart and lungs. At DHZB, about 3,500 open heart surgeries are performed annually and more than 1,000 other heart and ...
Polyhydramnios caused by Bartter syndrome type I: a rare, but
Polyhydramnios caused by Bartter syndrome type I: a rare, but

... There are various maternal and fetal conditions that can lead to polyhydramnios. In approximately 60% of the cases, pathogenesis remains unclear (i.e., idiopathic polyhydramnios), whereas in 20% of the cases, abnormal fetal conditions are found. Miscellaneous causes, e.g. multiple gestation or mater ...
Imaging of hypoplastic left heart syndrome –A rare
Imaging of hypoplastic left heart syndrome –A rare

... interventions are needed during pregnancy ...
common otolaryngological congenital abnormalities
common otolaryngological congenital abnormalities

... The most accepted theory is the mechanical one, which believes that mandibular hypoplasia occurring between 7 and 11 weeks of gestation serves as the triggering event. The hypoplasia is attributed to the mandible getting temporarily caught between the clavicle and sternum during development. This ca ...
Syndromic Craniosynostosis
Syndromic Craniosynostosis

...  Early surgery is advocated for both but for different reasons:  In Apert’s, early surgery is indicated to  further dysmorphic growth changes in the cranial base.  In Crouzon’s, early surgery is indicated for RICP. Pfeiffer’s Syndrome (Acrocephalosyndactyly Type II)  Tessier refers to it as “lo ...
Medical Genetics: Case #4
Medical Genetics: Case #4

... - this expansion causes DNA hypermethylation of the translated part of the FMR1 gene - get decreased expression of the FMR1 protein - lack of FMR1 protein causes mental retardation - MR only in males, because females have expression of FMR1 protein from their other (normal) X chromosome. ----------- ...
First Successful Management of Aortic Valve Insufficiency
First Successful Management of Aortic Valve Insufficiency

... Left ventricular assist device (LVAD) support has offered many individuals with end-stage heart failure an improved quality of life and enhanced survival. Prolonged mechanical assistance, however, has shown the potential to induce hemodynamic and structural changes in the native heart. One such dism ...
Asymptomatic dissecting aortic aneurysm in a young adult: a case
Asymptomatic dissecting aortic aneurysm in a young adult: a case

... dissection (TAAD) are responsible for significant premature mortality and are associated with a wide range of underlying conditions including hypertension, bicuspid aortic valve, and syndromic conditions such as Marfan syndrome (MFS) or Loeys-Dietz syndrome1. In the absence of a syndromic cause, it ...
Aortic atresia
Aortic atresia

... • Reasonable balance of Qp & Qs include PaO2 about 40mmHg, and systemic diastolic pressure greater than 30mmHg • Ideal time for surgery is about age 3 to 5 days. • It is not uncommon for organ systems to recover fairly rapidly, but then plateau short of complete recovery. ...
Anaesthetic management of a patient with severe aortic stenosis for
Anaesthetic management of a patient with severe aortic stenosis for

... patients with congenital AS is deterioration in their cardiac status due to physiological changes of pregnancy in the form of increased blood volume, heart rate, cardiac output, and decreased systemic vascular resistance. Also, decrease in the venous return because of hypovolemia, vasodilatation or ...
AORTIC STENOSIS - Ravenwood-PA
AORTIC STENOSIS - Ravenwood-PA

... obstruction to LV outflow may not be at the aortic valve but rather in the sub or supra-valvular regions Also indicated to evaluate the coronaries in AS patients at risk for coronary artery disease ...
AORTIC STENOSIS Prevention: Symptoms Signs and examinations:
AORTIC STENOSIS Prevention: Symptoms Signs and examinations:

... occurs when the leaflets or cusps of the aortic valve are restricted in their motion and, thus, do not fully open. That means that the opening of the aortic valve to allow blood to go from the heart to the aorta (and thus the rest of the body) is smaller or narrower than normal. When it is so narrow ...
Brugada Syndrome - SADS Foundation
Brugada Syndrome - SADS Foundation

... a 50% chance of inheriting the genetic abnormality. In a really large family, close to 50% of the children would inherit the genetic abnormality. In average size families, it can range from all to none as each child has an independent 50/50 chance of inheriting the particular disease gene. Once a fa ...
here
here

... reduced penetrance. An exception is LQTS associated with sensorineural deafness (Jervell and LangeNielsen syndrome), which is inherited in an autosomal recessive manner. Disease causing mutations can be identified in approximately 75% of cases. Short QT syndrome Short QT syndrome (SQTS) is a rare co ...
Inherited Arrhythmia Panels
Inherited Arrhythmia Panels

... reduced penetrance. An exception is LQTS associated with sensorineural deafness (Jervell and LangeNielsen syndrome), which is inherited in an autosomal recessive manner. Disease causing mutations can be identified in approximately 75% of cases. Short QT syndrome Short QT syndrome (SQTS) is a rare co ...
T The broken heart syndrome
T The broken heart syndrome

... and almost unheard of condition in Western medical literature at the time of Pavin’s publication. In the Japanese literature, however, reversible LV dysfunction precipitated by acute emotional or physical stress had already been well described. In 1990, Satoh et al were the first to refer to this sy ...
click here to download
click here to download

... In the initial conversation, parents prefer to discuss only those complicating medical conditions which the infant is suspected of having or developing in the first year. Parents want contact information for local support groups and community resources as well as a list of information resources (Nat ...
Aortic Root Abscess - Journal of Clinical and Preventive Cardiology
Aortic Root Abscess - Journal of Clinical and Preventive Cardiology

... provides useful anatomical definitions like the extent of annular involvement, extension of abscess to involve the sub-aortic curtain or upper inter-ventricular septum. All these are very important considerations for planning surgery in these patients (3). Once an aortic root abscess is detected, ur ...
Early history of the pre
Early history of the pre

... causing a short P-R interval and a delta wave. Sodi-Palares offered a similar mechanism in which electrotonus from the depolarized atrium triggers a ventricular impulse [20]. Further, according to Prinzmetal et al., a short P-R interval and a delta wave could be due to an accelerated atrial impulse ...
Current outcomes and risk factors for the Norwood procedure
Current outcomes and risk factors for the Norwood procedure

... Objective: Tremendous strides have been made in the outcomes for hypoplastic left heart syndrome and other functional single-ventricle malformations over the past 25 years. This progress relates primarily to improvements in survival for patients undergoing the Norwood procedure. Previous reports on ...
See PDF Article - California College of Ayurveda
See PDF Article - California College of Ayurveda

... mind, it creates fear, anxiety, worry, and nervousness. In the mind, samāna vāyu balances and stabilizes the other vāyus. It is also responsible for absorbing sensory impressions into the workings of the brain and the mind. When it is disturbed, a person loses control of his thoughts and feelings. I ...
Genealogic Study in Down Syndrome
Genealogic Study in Down Syndrome

... meiotic nondisjunction. Consanguineous parents have a higher probability of being themselves the offspring of consanguineous marriages. Accordingly trisomic Down syndrome may be the result of a high probability for the parents (mothers in the present study), rather than for the Down patient, to be t ...
Severe nephrotic syndrome
Severe nephrotic syndrome

... primary kidney disease (acute, chronic glomerulonephritis and its morphological variants ...
Twin Infant with Lymphatic Dysplasia Diagnosed with Noonan
Twin Infant with Lymphatic Dysplasia Diagnosed with Noonan

... Noonan syndrome has an incidence of 1 case per 1000–2500 live births. It is seen in people of all ethnic and racial backgrounds [8]. Males and females are equally affected. The early term “male Turner syndrome” incorrectly implied that females could not have Noonan syndrome. Turner syndrome consists ...
right atrial thrombus, aortic regurgitation, coronary artery stenosis
right atrial thrombus, aortic regurgitation, coronary artery stenosis

... exhibit valvular abnormalities, which is considerably more than to the general population. Data on the prevalence of APS in patients with isolated valvulopathy are limited(10,11,12). A cohort of 87 patients presenting with thermodynamically important mitral or aortic regurgitation due to valvular ca ...
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Turner syndrome



Turner syndrome (TS) also known as Ullrich–Turner syndrome, gonadal dysgenesis, and 45,X, is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often.Turner syndrome is not usually inherited from a person's parents. No environmental risks are known and the mother's age does not play a role. Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually only have 45. The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, the symptoms are usually fewer and possibly none occur at all. Diagnosis is based on physical signs and genetic testing.No cure for Turner syndrome is known. Treatment, however, may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which TS is associated.Turner syndrome occurs in between one in 2000 and one in 5000 females at birth. All regions of the world and cultures are affected about equally. People with TS have a shorter life expectancy, mostly due to heart problems and diabetes. Henry Turner first described the condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality.
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