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Introduction Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency. According to Brunner, it is a rare genetic disorder with a mutation in the MAOA gene ...

Asthma–chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) is a commonly encountered yet loosely defined clinical entity. ACOS accounts for approximately 15–25% of the ...

Approaches to the diagnosis and treatment of attention-deficit hyperactivity disorder (ADHD) are undergoing a major change as a result of information from studies on the genetics of ADHD and the ...

How should this patient’s case be managed? A diagnosis of primary Sjögren’s syndrome is often made on the basis of a classic triad of symptoms: dryness of the mouth and eyes, fatigue ...

Imposter Syndrome is a common phenomenon that many of us fall prey to at some point in our lives. It's that nagging voice inside our heads that makes us doubt our abilities and feel unworthy of ...

Objectives To develop a score for assessment of patients' symptoms in primary Sjögren's syndrome (SS): the EULAR SS Patient Reported Index (ESSPRI). Methods Dryness, pain, somatic and mental fatigue were identified as the main symptoms of patients with ...

The therapeutic management of Sjögren syndrome (SjS) has not changed substantially in recent decades: treatment decisions remain challenging in clinical practice, without a specific therapeutic target beyond the relief of symptoms as the most important goal.

The EULAR Sjögren's syndrome (SS) disease activity index (ESSDAI) is a systemic disease activity index that was designed to measure disease activity in patients with primary SS. With the growing use of the ESSDAI, some domains appear to be more ...

Carcinoid syndrome is a group of symptoms you might have with a type of cancer called carcinoid tumors. These tumors start in cells that make certain chemicals, and they release more of those ...

Restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED), is a sleep and neurological sensory condition, meaning it's related to your nervous system (which includes your brain and ...

Down syndrome is a condition in which a baby is born with an extra chromosome number 21. The extra chromosome is associated with delays in the child’s mental and physical development, as well as an increased risk for health problems. The physical ...

Asperger syndrome' was introduced to the world by British psychiatrist Lorna Wing in the 1980s. The term derives from a 1944 study by Austrian paediatrician Hans Asperger (new evidence about his problematic history has recently been revealed and provoked a ...

Non-ocular features show great variation in expression. Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and micrognathia. These features can become less pronounced with age.

Down syndrome occurs when an individual has an extra partial (or whole) copy of chromosome 21. It is not yet know why this syndrome occurs, but Down syndrome has always been a part of the human ...

Now, for the first time, Barbie has Down syndrome. Kate Green's 9-year-old daughter, Lorelei, already has a large Barbie collection. When Green first showed her daughter, who has Down syndrome ...

Today, everyone expects to come home safe from work. When the Brunner Mine exploded in 1896 families abruptly lost their husbands, fathers, brothers and sons. This led to new hardships caused by a loss of income, with grieving families struggling to pay ...

Sanfilippo (san-fuh-LEE-po) syndrome is a rare genetic metabolism disorder. A change in a single gene makes a child's body unable to break down certain carbohydrates (sugars). This leads to serious problems in the brain and nervous system. There is no cure ...

The FDA has fast-tracked a new ALS treatment for patients whose disease is genetic. ... Jill Dalager Brunner, executive for the ALS Association Southwest ...