In the recent years, an alarming tendency has been observed concerning the growing prevalence of obese and overweight people in populations. This is a worldwide problem, but is observed less often in the societies of African and South Asian countries. The World Health Organization drew attention to the social context of obesity by supporting epidemiological studies and emphasised the problem by, for instance, establishing the World Anti-Obesity Day. Obesity and overweight are risk factors of significant threats for human health, including: metabolic syndrome, type 2 diabetes, atherosclerosis and cardiovascular complications as well as urolithiasis. The coexistence of obesity, metabolic syndrome and urolithiasis significantly increases the risk of cardiovascular events, including myocardial infarction and stroke. Obese patients frequently manifest vitamin D deficiency, which also contributes to metabolic disturbances. Obesity is associated with a greater risk of neoplasia, particularly oestrogen-dependent one. The most common is simple obesity, caused by improper nutritional habits, both in terms of quantity and quality, as well as the lack of physical activity. The causes of secondary obesity are more complex, e.g. in the course of endocrinopathy, central nervous system disorders, genetically determined syndromes and iatrogenic syndromes (following therapies with glucocorticosteroids, oestrogen, antidepressants and certain neuroleptics).
Syncope is a common symptom in adolescents who come to the hospital emergency wards. The most common form of syncope is neurogenic type caused by impaired autoregulation of the circulatory system. This syncope is not generally life-threatening condition in a contrast to the less common but most dangerous cardiogenic type (e.g. cardiac arrhythmias due to Wolff–Parkinson– White syndrome, long QT time interval, atrioventricular blocks, haemodynamic obstructions in the outflow tract of the left or right ventricle, cardiomyopathy or coronary abnormalities). This paper refers to a new term, i.e. transient loss of consciousness. According to the new definition of syncope from 2009, temporary loss of consciousness has four components: a sudden occurrence, transient nature, short duration, and spontaneous regression. Currently, there are three main types of syncope associated with the cardiovascular system: neurogenic, orthostatic hypotension and a cardiac. The most common form in adolescents are neurogenic fainting which are often preceded by prodromal symptoms, i.e. decrease in blood pressure and heart rate. They can also occur in response to the stress or unusual situations. In the orthostatic syncope the loss of consciousness occurs in a very short time after the upright position and unlike neurogenic form, usually there are no prodromal symptoms, but tachycardia is present. The rarest, but also the most dangerous form of syncope is a cardiogenic type caused by arrhythmias or structural heart disease. This form may be the first sign of serious heart disease or even precede sudden cardiac death.
Electrocardiography is the most common and available cardiovascular diagnostic procedure and an important tool in everyday clinical practice of a family physician. Electrocardiogram interpretation is therefore an invaluable clinical skill. Resting 12-lead electrocardiogram allows to detect asymptomatic patients, especially athletes, with life-threatening heart diseases in order to protect them from sudden cardiac death. The vast majority of sudden cardiac deaths in young athletes (under 35 years of age) are due to hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Three to four per cent of young athletes who die suddenly have no evidence of structural heart disease and the cause of their cardiac arrest is a primary electrical heart disease such as inherited cardiac ion channel defects (channelopathies), including long QT syndrome. Long QT syndrome is a leading cause of sudden death in the young. It is characterised by prolongation of the QT interval and by the occurrence of syncope, due to torsade de pointes ventricular tachycardia, cardiac arrest and sudden death. Although these life-threatening cardiac events are usually associated with physical effort or emotional stress, they may also occur during rest or sleep. The diagnosis of long QT syndrome is mainly based on the QTc measurement. When using a prolonged QTc to diagnose long QT syndrome, it is necessary to exclude secondary causes of QTc prolongation that can occur with drugs, acquired cardiac conditions or electrolyte imbalance. Preventive measures for cardiac events include, i.a., pharmacotherapy (β-blockers) and electrotherapy (implantation of implantable cardioverter-defibrillator). The aim of this paper is to provide family doctors with some practical guidance useful in the interpretation of a resting electrocardiogram with prolonged QT interval. Genetic and acquired causes of prolonged QT interval, diagnostic criteria for congenital long QT syndrome are discussed as well.
Back pain is a symptom of a number of underlying diseases. The pain syndrome may be due to disorders of bone structures, apophyseal joints, ligaments, fascia, muscles or intervertebral discs, subsequently affecting or not the spinal cord and peripheral nerves. According to the pathophysiological mechanisms precipitating the pain, it can be classified as nociceptive or neuropathic pain. Nociceptive pain is precipitated by the mechanical irritation of nociceptors in ligamentous and muscular structures. Neuropathic pain is caused mostly by the compression of nerve roots. When acute nociceptive pain is not treated in a timely manner, it may develop into chronic neuropathic pain due to functional changes occurring in the central nervous system. Treatment of back pain involves a combination of myorelaxants, analgesics and non-steroidal anti-inflammatory drugs. It starts, as a first choice, with paracetamol because of a small number of its adverse effects. The combined administration of non-steroidal anti-inflammatory drugs and analgesics is preferable as it enhances the analgesic effect without increasing the toxicity. A similar combination is that of paracetamol with a mild opioid (tramadol). Neuropathic pain is influenced by several main groups of medications: antidepressants, anticonvulsants, membrane-stabilizing drugs, and GABA-B agonists. Early treatment of back pain is necessary in order to prevent pain chronification. Because of the different treatments of nociceptive and neuropathic pains, it is of particular importance to differentiate between them early.
The most common causes for surgical procedures involving peripheral nerves are injuries and carpal tunnel syndrome. Carpal tunnel decompression surgery consists in cutting the transverse carpal ligament thereby releasing the nerve entrapped by this ligament. Following the procedure, pain symptoms should subside immediately. If the patient complains about pain that does not subside with time, it is necessary to conduct a diagnostic process. Until recently, electrophysiological tests, which determine the ability to conduct impulses, have been the gold standard. In the recent years, however, ultrasound examinations with the use of high-frequency transducers, which precisely specify the cause of postoperative complications, have been used more and more often as the first choice examination. Such an examination also enables assessment of the adjacent tissues which may be the source of persisting symptoms. This facilitates designing proper treatment. In the case of posttraumatic changes in the nerves, the neurological status (the return of sensation and motor function of the muscles innervated by a given nerve trunk) depends on the time from the procedure since nerve tissue regenerates gradually. If the healing process is incorrect, “a neuroma-in-continuity” may form when the regenerate does not penetrate to the peripheral stump and forms a chaotic scar at the reconstruction level. An ultrasound examination enables assessment of the nerve suturing site in terms of nerve trunk continuity restoration, identification of neuromas and control of their growth. Moreover, it enables adhesions to be diagnosed. Based on the interview, clinical examination as well as neurophysiological and ultrasound examinations in posttraumatic or postoperative neuropathies, one can precisely plan the management, i.e. decide whether a wait-and-see attitude should be assumed or a surgical procedure should be conducted as soon as possible.
Sleep accounts for one third of human life. Its quality and duration affect our daily functioning, mood, concentration, perception and, to a large extent, the condition of our health. Approximately 10% of the world population suffer from insomnia. This can be incidental insomnia, i.e. lasting a few days, short-term insomnia, i.e. lasting up to a month, or chronic insomnia, which lasts over a month. People react to stress with insomnia. Acute and chronic stress often cause insomnia. Individuals who experience stress often have increased muscle tone, heart rate and blood pressure, which cause problems with falling asleep. In order to prevent insomnia lasting over 2 weeks from becoming a chronic condition, pharmacological treatment should be introduced and, as always in the case of sleep disturbances, the patient should be familiarised with the issue of sleep hygiene. Sleep medicines can be taken no longer than 2 weeks (benzodiazepine receptor agonists) or 4 weeks (benzodiazepines) due to the risk of dependency. In the treatment of insomnia such medicines can be taken only 2–3 times a week or 10 times a month. Preparations containing magnesium, calcium, L-tryptophan, melatonin and vitamin B6 can be used as support medication. Among herbs valerian, hop and lemon balm have confirmed therapeutic properties. Recently the soporific effect of tart cherry has been increasingly discussed. The efficacy of other plants used to treat insomnia is questionable. What seems effective, on the other hand, is cognitive-behavioural therapy, mindfulness meditation, acupressure, acupuncture and tai chi. Yoga and relaxing massage are also helpful in combating stress and therefore indirectly insomnia as well.
Both arterial hypertension and vitamin D deficiency are highly prevalent in the general population. Aim of the study was to assess blood pressure and its dynamics in 24-hour ambulatory blood pressure monitoring (ABPM) while correcting the vitamin D deficiency/insufficiency in perimenopausal women, who have grade 2 arterial hypertension. Material and methods: The study group consisted of 50 premenopausal women [48 (45–50) years] and 52 women in early (up to 5 years) postmenopausal period [52 (50–54) years]. Total 25-(OH)D blood plasma levels were assessed by immunoenzyme assay using DRG kit (Marburg, Germany). The total 25-(OH)D blood plasma levels below 20 ng/ml were considered as vitamin D insufficiency, the concentration of 20–30 ng/ml – as deficiency, and the levels 30–60 ng/ml were considered normal. In the group of women with 25-(OH)D deficiency/insufficiency two subgroups were isolated: IB subgroup (n = 25) and IIB (n = 21), which were introduced with treatment algorithm, including cholecalciferol administration at a daily dose of 2000 IU for 3 months. Results: Cholecalciferol therapy at a dose of 2000 IU per day for a period of 3 months has allowed reaching the optimum concentration of vitamin D in 80% of premenopausal hypertensive women, and in 76.2% of women in the early postmenopausal period. Correction of plasma vitamin D deficiency achieved by taking cholecalciferol, while using combined antihypertensive therapy (ramipril + indapamide) allows to improve the following parameters assessed in ambulatory blood pressure monitoring in premenopausal women: the mean daytime and nighttime systolic blood pressure, time index of 24-hour and daytime systolic blood pressure, nighttime blood pressure variability, systolic and diastolic blood pressure morning surge, and normalization of nighttime:daytime blood pressure ratio; in postmenopausal women the treatment allowed: the reduction of morning surge of diastolic blood pressure, normalization of daytime systolic blood pressure variability, and nighttime diastolic blood pressure time index.
The ductus arteriosus is a vascular structure of the foetal circulation that connects the great arteries and determines the blood flow from the pulmonary trunk to the aorta bypassing the pulmonary circulation. After birth, it comes to the functional and structural closure of the ductus arteriosus and the foetal circulation changes into circulation of adult type. Sometimes, however, physiological degradation of the duct after the first few weeks of life does not happen – this situation is called patent ductus arteriosus and accounts for approximately 10% of congenital heart defects. Patent ductus arteriosus may be asymptomatic or manifest itself with disturbances, mainly associated with the respiratory and circulatory systems, as well as disorders of other organs. A common clinical symptom is a characteristic continuous murmur, called machine-like murmur. The occurrence and severity of symptoms depend primarily on the size of the shunt through the duct and also on the age of the patient. The major complications of patent ductus arteriosus are bacterial endocarditis and pulmonary vascular disease. Treatment is based on the definitive closure of the ductus. During the first few weeks after birth, pharmacological closure with cyclooxygenase inhibitors (indomethacin, ibuprofen) is possible. Patent ductus arteriosus can also be managed with the use of non-invasive techniques (catheter procedures) or surgical treatment (a less invasive video-assisted thoracoscopy is also possible). The situation is different when there are complex anatomical heart defects in which the postnatally patent ductus arteriosus plays a different, beneficial role – these are so-called ductus-dependent defects. The management of such patients consists in maintaining the patency of the ductus arteriosus, because it determines the normal blood flow. There are also rare cases of premature (prenatal) closure of the ductus arteriosus, which may lead to the failure of foetal circulation.
Introduction: Cleft lip/palate is one of the most common congenital malformations. In Poland, approximately 500 children with an orofacial cleft are born every year. Matrix metalloproteinases are involved in periodontal tissue remodelling and degradation. Polymorphisms in the promoter region of the MMP2 gene may affect transcription and activity of the protein produced by this gene. The aim of the study was to examine 1306 C/T MMP2 gene promoter polymorphisms in the group of children with cleft lip/palate and in the control group as well as to determine the frequency of individual genotypes in different types of orofacial clefts. Material and methods: The study was conducted in the group of 150 children with cleft lip/palate and 102 children without an orofacial cleft. Genomic DNA was obtained from oral mucosa epithelium. The MMP2 gene promoter polymorphism was genotyped by tetra-primer ARMS-PCR. Results: There are no significant differences in the frequency of individual alleles in different types of orofacial clefts. The occurrence of the CC genotype was significantly higher in the group with cleft lip and palate than in the healthy group (p = 0.005). Conclusion: Determining the polymorphism of matrix metalloproteinase gene promoter sequence can contribute to the elucidation of cleft lip/palate aetiopathogenesis.
Urinary tract abnormalities are the most frequently occurring developmental anomaly in children. Pelvicalyceal system duplication is one of them and signifies the existence of two urine diverting separate systems. This anomaly occurs in 10% of population, usually in girls, and is associated with complete or partial ureter duplication. The frequency of total ureter duplication, which in 20–40% of patients is found as bilateral, is 1:125 children (0.8% of the population). The most frequent malformation is asymptomatic, diagnosed coincidentally casually and does not require any treatment. In some patients with pelvicalyceal system duplication, vesicoureteral reflux (VUR) and ectopic ureter may coexist. Malposition of ureter’s orifice into the bladder predispose to urinary retention, development of hydronephrosis and urinary tract infection (UTI). Ectopic ureterocele is recognized in 6–20% of children with recurrent UTI. The reason why children are referred to the hospital is UTI or hydronephrosis revealed by ultrasound imaging. When the ultrasound image of pelvicalyceal system duplication is ambiguous, micturating cystourethrography (MCU) and scintigraphy become the primary diagnostic procedure, or urography – in more complicated cases. In the case of ectopic ureter, the danger of inappropriate catheterization, i.e. directly into its lumen, may occur. Though very rare, this may cause some diagnostic difficulties and lead to injury of the urinary tract. For this reason, we want to further discuss this complication following a diagnostic procedure on the example of two cases of pelvicalyceal system duplication with ectopic ureter
Wolf–Hirschhorn syndrome is a complex development disorder containing facial dysmorphy, development retardation, growth impairment, muscular hypotonia and occurrence of paroxysmal disorders. Characteristic dysmorphic features are hypertelorism, oblique eyelids, prominent high forehead, wide nose, short philtrum, micrognathia, low set dysplastic ears and gothic palate, in some cases cleft palate. Those features are described as “Greek warrior helmet”. Dysmorphia can be accompanied by various congenital defects, such as growth impairment, heart defects, coloboma, urogenital and skeletal abnormalities, deafness, and in 20% of patients kidney defects, which could lead in some cases to end of stage renal disease. Observed disorders are resulting from deletion of short arm of 4th chromosome and their severity, clinical outcome and intensity of development retardation depend on deletion size. In our article we present a boy with severe case of Wolf–Hirschhorn syndrome accompanied by renal dysplasia of his only kidney, which lead to end of stage renal disease during his infancy. He has been treated with peritoneal dialysis since then. In our patient’s case variety of congenital defects and severe development retardation cause bad clinical outcome and serious prognosis. Patient like that requires multidisciplinary medical care. Decision about initiation of renal replacement therapy in such a patient is still an important ethical dilemma.