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A congenital deficiency in Factor VIII activity (deficiency in clotting factor) and as such is transmitted genetically. The altered gene is found on the X chromosome and often affects mainly men (sufferers), whilst women are carriers and do not suffer from the disease.
Although they may have one X chromosome affected, females are able to compensate for symptoms using their second X chromosome.
Blood clotting depends on the interaction of different proteins circulating in the plasma, which are called clotting factors. These proteins interact with platelets to form a blood clot. There are different diseases due to a lack of clotting factors or a lack of platelet function. The most important of this group is haemophilia due to a deficiency of clotting Factor VIII.
The symptoms will depend on the levels of Factor VIII in the blood plasma, although the following are common:
-Haemarthrosis (bleeding in the joints, especially in the knees)
-Severe muscle haematoma (may affect the muscles in the back)
-Connective tissue haematoma (bleeding from the abdomen or floor of the mouth)
-Mucosal bleeding (especially in the gums)
-Occasionally intracranial bleeding: not typical, but very serious
As it is a genetic disorder, it can affect people of all ages, from the moment a child is born if there is a trauma during the birth, or when they start to crawl or walk. Spontaneous bleeding may occur or bleeding after minor trauma.
Diagnosis is made in the haemostasis laboratory:
-Activated partial thromboplastin time or prolonged APTT.
-Kasper test: the patient’s plasma is mixed with a control plasma, and if it normalises, it means that the control Factor VIII has balanced out the patient's loss.
-Genetic diagnosis: look for a mutation in the Factor VIII gene.
Currently, the treatment consists mainly of the administration of recombinant Factor VIII, obtained through biotechnological procedures. The problem is that antibodies are produced that neutralise this recombinant factor within one or two days, so the patient must be prophylactically injected. There are new long-term treatments with fewer infusions per week and another subcutaneous infusion.
Borderline personality disorder (BPD) is a severe psychopathological disorder characterised by emotional instability, impulsive behaviour, difficulty in interpersonal relationships and identity problems. Appearing during adolescence, if left untreated it can have very negative effects on psychosocial development. To improve prognosis, early diagnosis and treatment are required.
Borderline personality disorder (BPD) is a disorder associated with neurodevelopment. It is thought to be the result of the interaction between biologically determined vulnerability and a series of stressful environmental circumstances that compromise an individual’s emotional maturation process. During adolescence, the person demonstrates a lower capacity to manage negative emotions than might be expected for their age and develops a pattern of interpersonal relationships characterised by instability and dependence. In this context, behaviours begin to manifest themselves that show little ability to adapt in order to control discomfort, such as self-harm or drug use, which have a negative effect on the way the person functions at different levels: family relationships, academic performance, affective life and social life. In addition, early manifestations of BPD tend to be associated with greater impulsiveness, meaning that the risk of suicidal behaviour is very high. Left untreated, the evolution of the disorder throughout life is associated with significant deficiencies at all levels and will require more complex therapeutic approaches compared to those that may be applied in adolescents or young adults.
The psychopathology of BPD can be placed into three clinical groups according to the diagnostic criteria of the disorder:
1. Emotional dysregulation, which includes affective instability, inappropriate anger and fear of abandonment.
2. Altered relationships, which include unstable relationships, change of identity, chronic feelings of emptiness and cognitive alterations related to stress.
3. Behavioural dysregulation, which includes self-harming and impulsive behaviour in at least two adaptive areas.
The prevalence of BPD in the general adult population is between 1.4% and 5.9%, making it the most diagnosed Personality Disorder (PD) at the different healthcare levels. Among adolescents, BPD has a prevalence of between 0.7 and 2.7%. Females are more frequently diagnosed with BPD. Males with BPD are often diagnosed with other disorders in error and thus there is not thought to be any real difference between the sexes.
Diagnosis is based on clinical criteria identified during a strict medical history conducted by specialists. It is important to identify the presence of dysfunctional personal traits from adolescence or early adulthood. It is advisable to supplement the medical history with structured interviews to explore the psychopathology of the BPD as well as the other PDs and psychopathological disorders of a similar clinical nature, to make a differential diagnosis and to be able to treat it properly.
The treatment of choice is psychotherapeutic. Psychopharmaceuticals, especially atypical antipsychotics, increase the efficacy of psychotherapy by facilitating patient control. There are psychotherapies specifically designed to treat BPD, such as dialectical behaviour therapy (DBT), mentalisation based treatment and transference focused psychotherapy. The aim of these therapies is to improve the capacity to manage negative emotions and interpersonal relationships.
Clinical history. Structured psychopathology interview. Neuropsychological examination. Blood test and urinalysis. Vital signs and anthropometric measurements.
Early identification and treatment of behaviours or disorders associated with a greater risk of developing BPD are important, such as self-harming or Attention Deficit Hyperactivity Disorder (ADHD). Strategies aimed at avoiding drug and alcohol consumption should be explored, as these are the main factors contributing to a poor prognosis in BPD. Adults with a long history of BPD should work towards preventing deterioration of psychosocial functioning.
Post-traumatic stress disorder is a clinical condition that can develop after an extremely traumatic experience (e.g. natural disasters, accidents or violence). It is marked by characteristic symptoms of reliving the experience, hypervigilance, avoiding stimuli related to the event and altered mood and cognition.
Although the majority of people exposed to a traumatic event recover in a reasonably short space of time and with few negative effects, some people may develop a variety of responses that make their recovery more difficult. Some of these responses are specific to traumatic stress, such as Acute Stress Reaction (ASR) and Post-Traumatic Stress Disorder (PTSD), in its various forms. In line with the Statistical Manual of Mental Disorders (DSM-5), there are currently four groups of symptoms defined for diagnosis, following a traumatic experience, requiring a duration of symptoms greater than one month and giving rise to clinically significant discomfort or a significant deterioration in the patient's functioning. It may be accompanied by dissociative symptoms (depersonalisation and/or derealisation) and presented with a delayed expression (if all criteria are not met until at least 6 months after the event). Although exposure to the traumatic event is the precipitating cause of its development, it is increasingly evident that biological and psychosocial risk factors can be predictors of the onset of symptoms, their severity and chronicity.
1. INTRUSIVE symptoms (1 or more): memories, nightmares, dissociative reactions, intense psychological and/or physiological discomfort when faced with things that evoke the trauma.
2. AVOIDANCE symptoms (of 1 or more stimuli related to the trauma): memories, people, places, etc.
3. HYPERAROUSAL and reactivity associated with the trauma (irritability, hypervigilance, concentration problems, exaggerated overwhelming response).
4. Negative cognitive and mood alterations.
PTSD has been identified in people all over the world who have suffered traumatic experiences. Its prevalence varies depending on the intensity and type of traumatic experience as well as several vulnerability factors (social, financial, cultural and biological).
Diagnosis is CLINICAL and an adequate assessment must be made by an expert healthcare professional. There are different scales to assess the severity of the symptoms and/or associated comorbid disorders (particularly disorders relating to anxiety, mood and substance abuse).
Based on the evidence, treatment should be multi-modal: Psychoeducation, specific psychological treatments (e.g. Trauma-Focused Cognitive Behavioural Therapy (TF-CBT), exposure therapy and Eye Movement Desensitisation and Reprocessing (EMDR) and pharmacological treatments (e.g. SSRIs, mainly sertraline and paroxetine)
Clinical history. Psychiatric and psychological interview, with the help of validated scales and questionnaires.
Screening in risk groups for early diagnosis and treatment.
Cystic fibrosis is a genetic disorder that affects the lungs, the digestive system and other organs in the body. 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.
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder, neurobiological in origin, that begins in infancy but can continue into adolescence and adulthood. Patients with this disorder may have difficulty paying attention, can be hyperactive and restless and/or may act impulsively. The symptoms of ADHD manifest themselves in different activities and areas, such as school, work or any other social environment.
1) Inattention: difficulty paying attention, misunderstandings, lack of organisation and planning, losing or forgetting things, easily distracted.
2) Hyperactivity: excess movement, difficulty relaxing or sitting down, feeling of being driven by an internal engine, very chatty.
3) Impulsiveness: quick responses, difficulty waiting, constant interruptions. People with ADHD also present emotional instability, low self-esteem, academic failure, employment and family instability.
In general terms, the prevalence of ADHD is around 3-7%. 50% of children will continue having clinical symptoms throughout adolescence and into adulthood.
ADHD is more frequent in males than females among the general population, with a ratio of 2:1 in children and 1.6:1 in adults. Females have a greater tendency to mainly show inattention.
Diagnosis is CLINICAL. An appropriate clinical history needs to be conducted with the patient and/or relatives by a specialised healthcare professional. There are different scales to assess the severity of symptoms or associated comorbid disorders, and neuropsychological tests that evaluate attention difficulties and executive dysfunction.
ADHD needs to be tackled in various ways: Psychological education, psychological treatment and pharmacological treatment. In children, treatment includes educating parents and school intervention. There are several stimulant and non-stimulant drugs that have been proven to be effective and safe to control symptoms.
Clinical history. Psychological interview. Neuropsychological examination. Blood test, vital signs, weight and height.
Tuberculosis is an infection caused by the bacterium Mycobacterium tuberculosis, mainly affecting the lungs and transmitted through the air. Common symptoms include cough, fever, night sweats, and weight loss. Diagnosis uses clinical, imaging, and microbiological tests. Treatment is long (at least six months) with a drug combination and is curable if properly followed.
Infectious disease caused by the microorganism Mycobacterium tuberculosis, which mainly affects the respiratory system and requires prolonged and uninterrupted treatment to cure. If treatment is interrupted, it can become resistant to drugs, which makes it harder to cure.
The reservoir of Mycobacterium tuberculosis is humans and it is usually an airborne disease. Transmission is caused by living in close proximity to someone with pulmonary tuberculosis. It is important to be aware that we are talking about a disease that can be treated, cured and eradicated, which means that it could disappear from the human population.
At the moment, however, it is the primary cause of death from infectious disease on the planet. Factors such as resistance to first-line drugs or coinfection make it difficult to treat the disease and increase its mortality rate.
The symptoms of tuberculosis depend on the organ that is infected. In the case of pulmonary tuberculosis, the most common symptoms are chesty cough, fever, weight loss and sweating at night. A diagnosis of tuberculosis should be considered when these symptoms last for more than 3-4 weeks.
It can affect anyone who has been in contact with infected patients.
Tuberculosis is diagnosed according to the patient’s symptomatology, the findings of a physical examination and the results of complementary testing. Microbiological tests constitute an essential pillar for diagnosis. Some tests include micobacteria cultures, microscopic techniques and evidence of molecular biology.
Patients have a confirmed diagnosis when the microbiological tests are positive. If they are not positive, they are said to have a probable diagnosis.
Conducted by means of several drugs to avoid resistance. The length of treatment is prolonged (minimum six months) because many drugs acts on the dividing bacteria and this microorganism is slow growing. Where possible, all tablets are administered in one single sitting per day to make following the treatment plan easier.
Chest x-rays, general tests, cultures of biological samples.
There are no specific prevention measures to avoid infection.
Hyperthyroidism is a condition caused by an excess of thyroid hormones, which accelerate metabolism and affect body temperature and heart rate. It can occur at any age, but is more common in women. Diagnosis is made through hormone blood tests, and treatment includes medication, radioactive iodine, or other measures to control the effects of hormone excess.
The thyroid gland, which is located in the anterior part of the neck and is shaped like a butterfly, produces thyroid hormones, which regulate the metabolism of the entire human body. They therefore influence, for example, our temperature and heart rate. The main causes of hyperthyroidism are: Graves’ disease (when an antibody against the body’s own thyroids is produced), a toxic multinodular goiter (makes too much thyroid hormone), and thyroiditis (inflammation of the thyroid of unknown origin).
The most common symptoms are altered heart rate, feverish temperature, nervousness and sweating, dry skin and unexplained weight loss.
It can affect people of all ages, but particularly women from adolescence to menopause.
Hyperthyroidism is detected by finding thyroid hormones in the blood, as well as the pituitary hormones tasked with regulation of thyroid hormones.
Treatment is aimed at reducing the action of excess thyroid hormones. Drugs are used that antagonise the hormones, usually orally. Drugs are also prescribed to slow heart rate. In some cases, radioactive iodine is administered to partially deactivate the hormone-producing thyroid cells in a controlled manner.
The most common test is a blood test. Other additional tests include thyroid scintigraphy and thyroid ultrasound.
In order for the thyroid gland to function normally, moderate consumption of iodised salt is recommended, as iodine is an essential component of thyroid hormones.
Acute leukemia is a blood cancer characterized by the rapid proliferation of immature cells in the bone marrow, preventing the normal production of blood cells. It is a serious disease that requires urgent treatment with chemotherapy and often stem cell transplantation.
Acute leukaemia involves abnormal cell growth in the haematopoietic system characterised by significant proliferation and accumulation of immature cells, firstly in the bone marrow and subsequently in the blood, with a great degree of clinical and biological heterogeneity.
Acute leukaemias are clonal proliferations (tumour cells that originate from a single initial cell and accumulate various genetic mutations that result in development of the disease) of altered blood stem cells. In normal circumstances, multipotent stem cells give rise to haematopoietic cells, which give rise to blood cells via a process of cell proliferation and differentiation mediated by the cell’s own mechanisms and by the surrounding tissues. Under normal conditions, blood cells migrate to the blood and tissues and are indispensable for the body to function correctly.
In acute leukaemias, the accumulation of different genetic and molecular alterations gives rise to the progressive accumulation of these cells, which substitute normal blood cells in a process known as "hiatus leukemicus", whereby progenitor cells (blasts) do not mature and accumulate in the bone marrow and peripheral blood. The symptomatology may be very mild and non-specific initially, resulting mainly from the lack of blood cells and sometimes from tissue infiltration. These are very serious diseases that require chemotherapy treatment to control them and often a transplant of bone marrow progenitor cells.
In many cases there are at first no major symptoms. Any symptoms there are mainly derive from the lack of blood cells and include tiredness, bleeding, infections and on rare occasions lack of appetite, bone pain, breathing difficulty or neurological symptoms. A physical examination may reveal palpitations, bruises, bleeding from mucus membranes, fever, infiltration of gums or other organs (skin, spleen, liver, etc.).
The average age for acute leukaemia is generally 67 years, but it can affect people of any age. Acute leukaemia is the most common cause of abnormal cell growth in children, with lymphoid leukaemia being the most common. Myeloid leukaemia is more common in the adult population.
A suspected diagnosis is reached in a number of ways, including clinical history, physical examination and a blood test. The diagnosis is confirmed using bone marrow aspiration in which we study neoplastic cells (blasts) under a microscope, as well as conducting multiparametric flow cytometry, cytogenetic analysis and molecular biology tests.
Based on chemotherapy. New drugs are currently being developed, such as immunotherapy or treatment against specific biological alterations (personalised treatment). If not contraindicated, a transplant of haematopoietic progenitor cells may be required once the response has been reached. Therapeutic strategies are adapted on the one hand to the patient’s situation (age, concomitant diseases, etc.) and on the other hand to the biological characteristics of the disease.
Full blood test and bone marrow aspiration.
Unfortunately, there is no way of preventing acute leukaemia from developing. The mechanisms that lead to a person developing this disease are not exactly known. We do know some factors that may be related, such as chemotherapy or radiotherapy in the past or exposure to certain toxins. A predisposition in some congenital diseases has also been observed, as well as cases where there is a family history of the disease.
The most common form is chronic myeloid leukaemia and this sheet refers exclusively to this form of leukaemia. It is a form of abnormal cell growth (neoplasia) that originates in immature multipotent blood cells (stem cells) and gives rise to red blood cells, platelets and white blood cells.
It is characterised by cellular proliferation of white blood cells with cytogenetic alteration that consists of the appearance of an abnormal chromosome known as the Philadelphia chromosome. The Philadelphia chromosome is also seen in other processes, such as acute lymphoblastic leukaemia, and diagnostic differentiation is required to distinguish which process is occurring. Chronic myeloid leukaemia may also involve red blood cell and platelet disorders, and is characterised by its chronicity. This disease serves to illustrate the revolution that has taken place in the last few years with targeted therapies in abnormal blood cell growth.
These are not very specific: Usually marked by tiredness, anaemia, loss of appetite.
This disease has a low incidence (1-1.5/100,000 pop./yr) and low mortality (more than 90% survival in the last 5 years). It mostly affects middle-aged people (40-50 years), although it can occur at any age.
A physical examination often reveals spleen growth. Blood tests show a very significant increase in white blood cells and bone marrow aspiration should be conducted to confirm. Genetic and molecular biology tests are also conducted.
The treatment most used is tyrosine-kinase inhibitors. It is an oral, chronic and relatively well tolerated treatment, including Imatinib: it is the first drug that was described, and the most commonly used. Side effects include submalar skin pigmentation (aesthetic problems), nausea and vomiting, which are often mild.
As there is some resistance to this drug, new drugs need to be developed to stop the other proliferation pathways of the affected cells.
Physical examination, blood test, bone marrow aspiration.
Hiatal hernia occurs when the upper part of the stomach moves into the chest through the diaphragm, allowing stomach acid to irritate the esophagus. It can cause heartburn, abdominal discomfort, difficulty swallowing, or dry cough. Diagnosis is made via imaging and endoscopy, and treatment can be medical or surgical depending on severity.
A hiatal hernia is when the upper part of the stomach moves from the abdomen to the thorax above the diaphragm muscle.
This means that the acidic content of the stomach can easily go up into the oesophagus, leading to a chemical irritation known as oesophagitis.
This condition affects approximately 20% of the population, although knowing exactly how many people suffer from it is difficult because some of them do not present any symptoms at all. Those that experience symptoms usually suffer from acidity, abdominal discomfort, difficulty swallowing, bad breath or a dry cough.
We do not really know why hiatal hernias occur.
The diaphragm is the muscle that separates the thorax from the abdomen. The diaphragm's hiatus is one of the anatomic structures that help to keep the oesophagus (intrathoracic) and the stomach (intraabdominal) in position. If the stomach is displaced towards the thorax, its gastric content, which is very acidic, can easily go back up the oesophagus. The existence of a hiatal hernia is one of the causes of acid reflux, but not the only cause.
When suffering from a hiatal hernia, a patient may have acid reflux, with the consequence being a chemical irritation from the stomach acid on the lining of the oesophagus. This leads to a form of inflammation, known as oesophagitis, which is very painful.
Such pain is located close to the heart, which is why it needs to be distinguished from the pain caused by angina or pericarditis.
There may also be no symptoms of a hiatal hernia.
Hiatal hernias are very common and can affect 20% of the population at some point in their lives. It can also be an incidental x-ray finding in >40% of the asymptomatic population. Incidence increases with age and is most common in the over-50s.
Diagnosis of a hiatal hernia is based on demonstrating the abnormal position of the stomach and almost always the presence of acid reflux.
Oesophagogram:
The oesophagus and the stomach can be X-rayed, as can the swallowing process and reflux. A substance must be taken that shows up as opaque on X-ray images in order to be able to see the aforementioned structures.
Digestive endoscopy:
A flexible tube is inserted into the mouth, containing a camera for imaging the oesophagus and the stomach. This enables the position of the oesophagus and the stomach to be observed and the degree of inflammation detected.
Oesophageal manometry:
During this test, a probe is inserted through the nose that allows pressure changes in the oesophagus to be observed during swallowing and detects abnormalities in the way it is functioning.
24-hour pH (acid) monitoring
Acid monitoring with a probe that is inserted through the nose and assesses the amount of acid reflux from the stomach to the oesophagus over a 24-hour period.
Hiatal hernias are treated if there is severe acid reflux or excessive compression (strangulation) in the part of the stomach that is displaced.
Medical treatment of the hiatal hernia is done using hygienic-dietetic measures, such as lifting the head of the bed, not eating copious amounts of food, light dinners and medications that counteract or decrease stomach acidity.
If the patient does not respond to medical treatment, surgical correction of the hiatal hernia can be performed to reposition the stomach intraabdominally.
Surgery can be performed by laparoscopy.
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