Advices for Life

Diseases Of Children

December 20, 2016 00:03

Noonan syndrome : causes, symptoms , diagnosis, treatment

Noonan syndrome is named after the author, described the disease in 1963. It occurs with a frequency of 1 in 1000-2500 newborns. What causes Noonan syndrome? Noonan syndrome - an inherited autosomal dominant disease.In 50% of cases of possible molecular genetic verification of gene mutations PTPN11. Symptoms of Noonan syndrome in newborns marked growth retardation (birth length 48 cm...

December 20, 2016 00:03

Klinefelter syndrome |Symptoms and treatment of Klinefelter's syndrome

Klinefelter syndrome, 47, XXY is a clinical example of the destruction of the sex chromosomes. Klinefelter's disease is characterized by the presence of at least one extra X chromosome in males, which leads to disruption of puberty in them.Clinically Klinefelter first described in 1942. The population frequency is 1: 1000 males.Klinefelter syndrome occurs in approximately 1/800 live bi...

December 20, 2016 00:03

Congenital multiple arthrogryposis

Congenital multiple arthrogryposis is characterized by multiple joint contractures (especially the upper limbs and neck) and amioplaziey, usually without other serious congenital abnormalities.Intelligence relatively normal. What causes congenital multiple arthrogryposis? Any condition that leads to violation of fetal movements in utero (eg, malformations of the uterus, multiple pregnancy...

December 20, 2016 00:03

Hartnupa disease

Hartnupa disease is a rare disease associated with abnormal reabsorption and excretion of tryptophan and other amino acids.Hartnupa Symptoms of the disease include a rash, CNS disorders, short stature, headaches, and fainting and collapse.The diagnosis is based on high-definition content in urine tryptophan and other amino acids.Preventative treatments include niacin or niacinamide, while a...

December 20, 2016 00:03

Persistent pulmonary hypertension of the newborn

newborn persistent pulmonary hypertension - is the persistence or return to the constriction of arterioles of the lungs, causing a significant decrease in blood flow in the lungs and the right-left shunt.Symptoms and signs include tachypnea, indrawing of compliant places of the chest and pronounced cyanosis or decreased oxygen saturation, which do not respond to oxygen therapy.Diagnosis is ...

December 20, 2016 00:03

Syndromes of air leak from the lungs

Syndromes air leak from the lungs air is spread out its normal location in the airspace of the lungs. air leakage from lung syndromes include pulmonary interstitial emphysema, pneumomediastinum, pneumothorax, pnevmoperikard, pneumoperitoneum, and subcutaneous emphysema.These syndromes have been reported in 1-2% of healthy infants, possibly in connection with the emergence of a significan...

December 20, 2016 00:03

Bacterial tracheitis ( pseudomembranous croup ) |The symptoms and treatment of bacterial tracheitis

bacterial tracheitis (pseudomembranous croup) - a bacterial infectious disease with localization in the trachea. What causes bacterial tracheitis? Bacterial tracheitis - a rare disease that occurs in children of any age.Most often it called tracheitis Staphylococcus aureus, group A streptococcus premoliticheskim and Haemophilus influenzae type b. Symptoms of bacterial tracheitis Trache...

December 20, 2016 00:03

Syndromes of chromosomal deletions

chromosomal deletion syndromes are the result of the loss of part of chromosome.At the same time there is a tendency to severe birth defects and a significant delay in mental and physical development.Syndromes of chromosomal deletions are rarely assumed prenatally, but can sometimes be diagnosed in this period, if for any (non-data syndromes) reasons spend karyotyping.Postnatally chromosoma...

December 20, 2016 00:03

Family periodic paralysis

Family periodic paralysis - this is a rare autosomal condition characterized by episodes of flaccid paralysis with loss of deep tendon reflexes and the absence of muscle response to electrical stimulation.There are 3 forms: giperkaliemicheskaya, gipokaliemicheskoe and normokaliemicheskaya.On the diagnosis indicates the history, the diagnosis is confirmed, provoking episode (the introduction...

December 20, 2016 00:03

Breakdown of amino acids with branched chain

valine, leucine and isoleucine are branched chain amino acids;deficiency of enzymes involved in their metabolism, accumulation of organic acids leads to severe metabolic acidosis. disease maple syrup This is a group of autosomal recessive disease caused by deficiency of one or more subunits decarboxylase activity in the second stage of the amino acid catabolism of branched-chain.Despite ...