Síndromes de sobredescripción con sobrecrecimiento - revisión sistemática. Parte 1 - síndromes monogénicos

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

Puberty is a critical phase, typically beginning between the ages of 8 and 13 in girls and 9 and 14 in boys, though timing can vary based on genetics, environmental factors, and overall health. This period is characterized by the development of secondary sexual characteristics and the attainment of reproductive potential. Endocrine changes underpin puberty, with hormonal surges of Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH) instigated by Gonadotropin-Releasing Hormone (GnRH)...

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...

Anorexia nervosa is a complex and severe eating disorder characterized by an intense fear of weight gain, an unrelenting pursuit of thinness, and a distorted body image. It often leads to dangerously low body weight relative to an individual's age and height. This disorder is marked by significant physical and psychological consequences, making it one of the most life-threatening psychiatric illnesses.
Symptoms and Physical Effects
Individuals with anorexia nervosa commonly exhibit extreme...

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...

Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience,...