Barraquer-Simons syndrome is the name given to a rare disorder that has important and often overlooked clinical consequences. Barraquer-Simons syndrome is an acquired form of focal lipodystrophy of unknown cause, characterized by loss of subcutaneous fat confined to the upper body. Insulin resistance and other metabolic complications are less common compared to other forms of lipodystrophy.

Dimples can be seen on one or both cheeks. Not everyone has dimples, some have them and some don't. Dimples are believed to form based on differences in the muscles and skin on the face.

Personality is the inner qualities and characteristics of a person. From there, it leads to thoughts, feelings, actions and words; or it is also defined as including moods, attitudes, opinions and is most clearly expressed in interactions with others. So, do you know what influences and affects each of our personalities? Quickly answering the following 9 multiple choice questions will help you understand this issue better.

Inherited metabolic disorders are metabolic disorders that are determined by genes. Most people with inherited metabolic disorders carry genes that cause deficiencies in certain enzymes. There are hundreds of types of inherited metabolic disorders, each with its own unique symptoms, treatment, and prognosis.

EGFR mutation, also known as Epidermal Growth Factor Receptor, is considered as the epidermal growth factor receptor, this is a common mutation in people with lung cancer. Recent statistics show that up to 50% of Asians with lung cancer have EGFR gene mutations. In addition to the racial factor; EGFR gene mutations also appear in a high proportion of female lung cancer patients, those who do not smoke and have adenocarcinoma histology.

Mass Spectrometry (MS) is a technique for measuring the mass to charge ratio (m/z) of ions. From the mass and structure results, we can know about the biological function of the analyzed molecule. Tandem Mass Spectrometry (MS/MS) also shows chemical components at low or even very low concentrations in the analyzed mixture.

Batten disease is a group of rare neurological disorders that get worse over time. They usually begin between the ages of 5 and 10. Although there are many different forms of the disease, all are fatal, usually in the teens or 20s.

Muscular dystrophy syndromes comprise a group of disorders that cause progressive muscle weakness and eventually muscle atrophy. People with muscular dystrophy have abnormal genes that prevent the production of proteins needed for healthy muscles. There are several types of muscular dystrophy syndromes, with the most common type of progressive muscular dystrophy showing symptoms in childhood and more common in boys. The other types of muscular dystrophy do not appear until adulthood.

Allan-Herndon-Dudley syndrome is a rare disorder of brain development that results in intellectual disability and movement difficulties. It is a rare syndrome that occurs in the fetus and is more common in males than females. There are approximately 25 families with Allan-Herndon-Dudley syndrome reported worldwide.

Our DNA determines a large part of our risk of developing Alzheimer's disease, but it is still unclear how much genetic risk factors contribute to the disease. A research team led by Professor Bart De Strooper (VIB-KU Leuven) and Dr Mark Fiers has now shown that many of the risk factors affect the cells that protect the brain - microglia - and more specifically their response to amyloid-beta, one of the proteins that accumulate in the brains of Alzheimer's patients. The individual effects of small genetic variations may be negligible, but the combination of hundreds of such subtle changes can upset the balance and cause the disease. Why do some people develop Alzheimer's disease while others do not, even at a very old age? Despite decades of research, we still do not know the full answer to this question. Epidemiological studies suggest that about two-thirds of a person's risk of developing Alzheimer's disease is determined by genetics. Several dozen risk genes have been identified, however, recent evidence suggests that there may be hundreds of additional genetic variations that each contribute a small but significant portion to disease risk.

It takes about 124 genes to create hair color such as blonde, brown, black or red hair. So, is hair color passed down to the next generation and what effect do the genes that create hair color have on health?