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The thyroid gland actively captures iodine for the synthesis of thyroid hormones. If radioactive iodine is administered, the weak radiation released can be detected and reveal information about the gland’s condition.
The test takes advantage of the affinity that the thyroid gland has for iodine. This affinity is increased in the case of hyperthyroidism, which is the situation in which scintigraphy is most useful.
To determine the shape, size and location of the thyroid gland. It can also detect nodules or areas of hyperactivity or hypoactivity.
A slightly radioactive isotope of iodine is injected intravenously. When it is captured by the thyroid gland, a gamma camera detects the gamma radiation from the iodine taken in by the thyroid gland and gives us an image of the gland and its more and less active areas.
Although a radioactive substance is used, the level of radiation is very low. It is not recommended in pregnant women.
An ultrasound can be useful in detecting nodules, but it does not given an idea of the level of activity in the same way as scintigraphy does.
The complications of diabetes mellitus with high blood sugar and/or poor metabolic control may end up causing injuries to small vessels, such as diabetic retinopathy and diabetic nephropathy, or large vessels, such as diabetic arteriopathy.
This affectation also extends to protective sensitivity to injuries, and causes signs of peripheral nerve damage. It may present as sensory, motor or autonomic nerve damage.
The most frequent form is sensory/motor and one of the serious complications is Charcot foot and ankle. The combination of nerve and artery damage with foot infection may be considered a serious complication.
Although it may start more severely, the main symptoms of diabetes are:
And the symptoms that may indicate the beginning of diabetic foot are:
Around 15% of patients diagnosed with diabetes get diabetic foot. Between 40% and 50% of diabetics will have an ulcer and 20% will need an amputation. More than 50% of non-traumatic leg amputations are performed in diabetics.
Clinical, analytical and screen for early detection.
Depending on symptoms and preventive.
Prevention of diabetic foot includes good metabolic control alongside a healthy lifestyle and professional foot care
Self-testing for glucose consists of getting patients with diabetes and their families to conduct tests and note down the results in the capillary blood glucose log book. That way, the patient can find out and assess their blood sugar level in real time.
To find out if blood glucose levels are correct, too high or too low, writing them down in your log book allows you to get to know the trends at different times of day, in order to adjust the doses of insulin in the best way possible.
To measure capillary blood glucose it is very important to keep all your equipment in perfect condition and follow the instructions for each piece of equipment to measure blood glucose and prick yourself correctly.
If the pancreas does not secrete insulin or does not secrete enough, it is essential to add it from outside. For now, the only way to do this is to inject it, since if it is digested, the stomach destroys it.
What do you need to bear in mind if you need to inject yourself with insulin or you look after someone who does?
You do not need to disinfect the skin around the area you are going to inject with alcohol, but you do need to maintain good body hygiene and wash your hands first.
If you are using alcohol, let it evaporate before you inject, as it may be more painful otherwise.
Insulin must be injected into the subcutaneous tissue. It will then slowly make its way into the blood and start to act.
Repeated pricks in the same area over time may cause lipodystrophy or deformations in the subcutaneous tissue due to inflammation or reduction. It can be easily identified as bruises appear beneath the skin.
If you do have lipodystrophy, either: do not inject that area for a while until the lipodystrophy goes away; or change needles more often.
Research recommends 5 mm needles for everyone, as there is not thought to be much difference between the thickness of subcutaneous tissue, regardless of the person’s physical constitution.
The correct pinch is done using the index and middle fingers and the thumb. Grab the skin and subcutaneous tissue, without lifting the muscle. Once the insulin has been injected, wait a few seconds before withdrawing the needle and letting go of your skin.
Cancer is characterised by excessive and uncontrolled cell growth that invades and damages tissues and organs. It is a multi-factor illness that is caused by a combination of genetic and environmental factors. Most cancers are sporadic, but some 5 to 10% of cancer diagnoses involve a hereditary genetic origin. This means that specific genes, called cancer susceptibility genes, present germ cell abnormalities (found throughout the body) that increase the risk of developing cancer. It's important to point out that cancer is NOT hereditary, but the predisposition to developing it is. Having genes that are associated with cancer susceptibility simply means you have a higher risk of having the disease, not that you will have cancer for sure. This genetic predisposition can be transmitted from parents to offspring, normally following an autosomal dominant inheritance pattern, meaning that there is a 50% chance of passing the gene to descendants. In some cases, the genetic susceptibility is individual and caused by a combination of multiple genetic differences (a combination of low-risk polymorphisms or allele variants). Identifying a genetic abnormality known to increase the risk of developing cancer in a family allows its members to benefit from early cancer detection and prevention measures, as well as to seek specific, targeted treatments against that type of cancer.
There are different genes associated with an increased risk of falling ill with cancer. Among the most frequent and well known are the genes:
The genes APC and MUTYH, linked with familial adenomatous polyposis –the formation of a large number of adenomatous polyps (non-malignant tumours) in the colon– and colon cancer.
There are different clinical criteria that may arouse the suspicion that an individual has a hereditary genetic abnormality that predisposes them to certain kinds of cancer, such as:
When these criteria are detected, they are referred to the genetic assessment unit specialising in cancer, where the need to perform a genetic study to rule out the possibility of a hereditary predisposition to cancer will be determined. This multi-disciplinary unit is staffed by physicians who are specialists in hereditary cancer and genetic counsellors. Here, an individual risk assessment, genetic tests, and follow-up for the carriers of the gene are carried out.
There are different syndromes that involve a genetic predisposition to developing cancer. For example, there are different genes that can make someone have a genetic predisposition to breast cancer.The most common are:
The genetic predisposition to developing colon cancer can be divided into two types: polyposic and non-polyposic.
There are different types of polyposic colon cancer. Familial adenomatous polyposis (FAP) presents the highest risk for developing colon cancer. It is characterised by hundreds or thousands of polyps in the colon, and sometimes also throughout the entire digestive tract. These polyps are not malignant lesions, but they can degenerate and develop into cancer.Thus, individuals with FAP end up developing colon cancer if these polyps are not removed. Pathogenic alterations in the APC gene are responsible for this condition. In addition, carriers of APC gene mutations are also at risk for other tumours or conditions (hepatoblastoma, thyroid tumours, and desmoid tumours).
The main syndrome entailing a predisposition to non-polyposic colon cancer is Lynch syndrome. This syndrome entails a high risk of developing colon and endometrial cancer, along with a risk of developing ovarian, bile duct, urinary tract, and gastric cancer. It is caused by mutations in the genes that are in charge of DNA repair, specifically, those tasked with mismatch repair, namely MLH1, MSH2, MSH6, PMS2, and EPCAM.
We can also find a genetic predisposition to endocrine tumours. Pheochromocytomas and paragangliomas are rare tumours that are caused by a hereditary genetic abnormality in 40% of cases. These can be caused by abnormalities in the succinate-dehydrogenase-encoding genes (SDHx), RET gene (MEN2 syndrome), MEN1 gene, NF1 gene (neurofibromatosis type 1) or FH gene, among others.
A genetic diagnosis is usually done with a blood sample, but a saliva sample or skin biopsy can also be used. DNA (present in the nucleus of our cells) is extracted from this sample for analysis.
There are different techniques for carrying out genetic studies. Currently, at our centre, we perform gene panel studies. This entails analysing different genes linked with the genetic predisposition to cancer to rule out any abnormality in them; this is also called gene sequencing.
When a genetic abnormality is found in a family, a predictive study is carried out. This kind of study determines if an individual also presents the genetic abnormality detected in the family.
Depending on the genetic change found, different measures for early detection and prevention can be recommended. For example, individuals with a mutated BRCA1/2 gene should begin to undergo an annual breast check-up, with a breast MRI and a mammogram, from the time they are 25-30 years old. Individuals with Lynch syndrome should get annual colonoscopies from the age of 25 onward.
Depending on the type of genetic disorder, risk reduction surgeries can also be an option. For example, in individuals diagnosed with FAP, depending on the number of polyps they have, a prophylactic colectomy (removal of the colon) can be performed to reduce their risk of developing colon cancer.
Follow-up and prevention measures are determined on an individual basis in the corresponding specialist's medical consultation. Additionally, at the medical office in charge of hereditary cancer, a reproductive genetic assessment is offered, depending on the genetic abnormality.
Cystic fibrosis is a genetic disorder that affects the lungs, the digestive system and other organs in the body.
Cystic fibrosis affects the cells that produce mucus, sweat and digestive enzymes. Bodily secretions that are usually fluid and not viscous become more viscous. Instead of acting as a lubricant, the viscous secretions form layers, especially in the lung and pancreas.
Patients with cystic fibrosis have a much higher level of salt in their sweat than normal.
The age at which symptoms appear varies, depending on the intensity of the disease in each person. Currently screening for cystic fibrosis is conducted in the first few days of a baby’s life, allowing a diagnosis to be made within a month of birth, much earlier than symptoms are likely to develop. Normally, symptoms appear within the first few months or years of life, although in some patients they may appear during adolescence or in adulthood. There has been an improvement in the quality of life of patients with cystic fibrosis compared to previous decades. Although cystic fibrosis requires daily treatment measures to control it, patients can still go to school and work.
The most common symptoms in small children are fatty deposits, delay in gaining weight, and repeated bronchitis and respiratory infections. Older children and adults may suffer from sinusitis, diabetes, pancreatitis or fertility problems.
It affects children and adults more or less severely depending on whether the illness has a mild or severe form of manifestation.
All new-borns are screened using a blood test to detect immunoreactive trypsinogen.
The sweat test (amount of salt in the sweat) is an important diagnostic test. It is done by stimulating the skin to increase sweat and measuring the amount of chloride secreted. In cystic fibrosis there is an increased amount of chloride and sodium.
Diagnosis is confirmed using genetic testing to look for mutations of the CFTR gene (Cystic Fibrosis Transmembrane conductance Regulator). This gene is involved in the passage of salt through the membranes of the body.
It is very important that patients be attended in a specialised multidisciplinary Unit.
There is currently no definitive cure, although there is a lot of research in this field and in the future it is probable that we will be able to change the natural course of this illness with new drugs that come onto the market.
Treatment is aimed at maintaining lung function, avoiding respiratory infections and improving the absorption of foods and nutrition. Breathing exercises are essential. These breathing exercises maintain adequate ventilation of the lungs and in some cases are accompanied by inhalation of a solution of sodium chloride, other fluidifying substances or antibiotics.
The relevant preventive vaccinations should be administered (flu, pneumococcal, etc.). The Cystic Fibrosis Unit designs a treatment plan for each patient, which varies over time and according to the evolution of the condition.
From a digestive point of view, pancreatic function can be helped by taking pancreatic enzymes orally and promoting the absorption of foods.
In some cases, if the disease is very advanced, a lung transplant may be needed. Treatments are improving all the time and need to be administered less and less frequently.
Screening for immunoreactive trypsinogen in the blood, the sweat test, genetic analysis.
Complementary tests that may be useful include blood tests to look at vitamin levels, among other things, chest x-ray, chest CAT scan, functional respiratory tests (spirometry) and stool analysis.
Early detection is currently a reality and allows early treatment as symptoms develop.
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