Aurora magazine

Together with the bone marrow and spleen, the lymphatic system is one of the fundamental components of the immune system. It is a venous system, composed of vessels and lymph nodes through which it carries liquids throughout the body.

The lymphatic vessels are equipped with small valves that allow the lymph to flow in only one direction, the heart true. In this way the vessels are able to drain the lymph in all tissues, even between the capillaries and in the space between the cells. The capillaries absorb most of the liquid, while what remains passes from the lymphatic vessels to the veins.

The sap contains:

• protein;
• minerals;
• various types of nutrients;
• damaged and sometimes cancer cells;
• bacteria and viruses,
• which penetrate from vessels to different tissues.

The lymph nodes collect all the lymphatic vessels and are positioned in strategic areas of the body. Their job is to eliminate potentially dangerous cells, thanks to the specialized leukocytes that destroy them. In this way they reduce the risk of infections and tumors, which could start from there and spread throughout the body.

The lymphatic system can suffer from various disorders, both genetic and otherwise. The main causes are:

• obstruction of the lymphatic system. When the vessels are blocked, liquids accumulate and damage the tissues. Obstructions can be caused by scar tissue, radiotherapy, trauma;
• infection of the lymph nodes, which causes an expansion of the infection throughout the body;
• tumors, which can block lymphatic ducts or metastasize in lymph nodes.

Source: msdmanuals.com

Congenital heart disease is a malformation of the cardiovascular system. They are defined as "simple", when there is a defect in the septa or a valve malformation. Instead, there is talk of complex heart disease when there are multiple defects. Heart disease is present from birth and often the precise genetic cause is not known.

Some malformations are related to precise chromosomal alterations, but in many other cases there is no clear explanation. It is known that abnormalities develop during fetal life, affecting the correct formation of the cardiovascular system. They usually remain silent throughout gestation, manifesting only after birth. Fetal echocardiography can detect many congenital heart defects, with absolutely non-invasive tests.

Usually the analysis requires 30 minutes of time, more if you are faced with a complex form. In the latter case, more invasive forms of diagnosis may be needed, such as cardiac catheterization. In the absence of prenatal diagnosis, congenital anomalies are identified starting from small murmurs to the heart detected by the pediatrician. These can be innocent murmurs or a symptom of pathology, in which case it is worthwhile to rely on a pediatric cardiologist.

About 50% of heart disease is detected in this way, within the first month of life. This allows intervention with surgical therapy as soon as possible. Surgery in congenital heart disease has a high probability of success, with almost immediate improvements. Children can lead an almost normal life, despite having to take precautions regarding sports activities.

Source: ospedalebambinogesu.it

Diabetes mellitus is a chronic disease with environmental and genetic causes. It is divided into two main forms:

• type 1 diabetes, in which the body does not produce insulin;
• type 2 diabetes, in which the body does not respond adequately to insulin and / or insulin levels are too low.

There are also other forms of diabetes, less common and linked to genetic abnormalities or pancreatic diseases. Furthermore, there is a form of diabetes that appears only during pregnancy, called gestational diabetes. The lack of insulin or the insulin resistance proper to diabetes prevent the body from regulating blood glucose levels, which are therefore always too high. In some cases, hyperglycemia does not give any symptoms or manifests itself too thinly.

The most common symptoms are: fatigue; continuous thirst; excessive diuresis; unexplained weight loss; increase in appetite; abdominal pains. Only in the most serious cases is mental confusion and loss of consciousness. Although it may go unnoticed in the early stages, diabetes leads to serious long-term consequences. Blood glucose always above the norm leads to macrovascular and microvascular complications. These result in neurological damage and in other organs.

Those who suffer from diabetes mellitus are at risk of contracting permanent damage to their kidneys, eyes and ears. Myocardial infarctions and strokes are also common. To date there is no definitive therapy for either type 1 or type 2. Patients can lead a normal life, provided however that they have constant subcutaneous injections and lead a correct lifestyle. Exercising and keeping your weight under control can also help you avoid the onset of diabetes, especially in those who are genetically predisposed.

Source: humanitas.it

The term neuronal ceroidolipofinosis (NCL) indicates a group of neurodegenerative genetic diseases. Sufferers show an accumulation of ceroid-lipofuscin, which causes most of the symptoms. There are different forms, distinguishable according to the age of onset.

• Congenital;
• child;
• Late infantile;
• youth;
• adulthood.

Each of them includes variants both at the genetic level and at the level of symptoms. All forms cause visual impairment, epilepsy, decline in cognitive and motor skills. However, prognosis and life expectancy change: children with the congenital form survive a few hours; those who suffer from the adult form can reach 50 years.

Neuronal ceroid lipofuscinosis are monogenic diseases: mutations affect a single gene, changing from patient to patient. To date, doctors have identified about 440 mutations placed on genes between CLN1 and CLN14. The function of some of these genes is not yet known, so it is difficult to say how mutations affect the body.

The disease occurs if both parents transmit a copy of the mutated gene. The adult form is an exception: in this case, it is enough to inherit a mutated copy of CLN4 to manifest the disease. If the mutated gene has already been identified in the family, prenatal diagnosis can be performed. Otherwise, the diagnosis is made by analyzing the clinical picture. For the moment there are no solution therapies: the treatments are based only on palliative care.

The poor pathogenetic knowledge makes it difficult to elaborate a treatment that acts on the heart of the problem. For this reason, several studies and gene therapy trials are underway.

Source: telethon.it