Marfan syndrome is a disorder of the connective tissue (fibrillins and elastins). It is an autosomal dominant disease associated with a defect of chromosome 15 which encodes fibrillin-1. The syndrome is characterised by a varying extent of connective tissue disorders. A mutation in the gene encoding connective tissue can be manifested in all organs irrespective of the patient’s age. This disorder is characterised by multiple symptoms manifested mainly in the cardiovascular and skeletal systems as well as in the organ of vision. Ghent criteria are commonly recognised in the diagnosis of Marfan syndrome. Moreover, clinical symptoms reported by patients should also be considered. Patients presenting at the office of a general practitioner with symptoms resembling Marfan-like syndromes should undergo a detailed medical interview for the presence of cardiovascular diseases in the family. A general practitioner should examine the patient, drawing particular attention to organs that are frequently affected by disorders of connective tissue encoding (chest, oral cavity and general body stature). The family of a patient with Marfan syndrome should be referred to a genetic clinic to conduct tests for the presence of gene mutation. The diagnosis of Marfan syndrome in neonates is complex since not all symptoms of the syndrome are clinically manifested. In female patients with Marfan syndrome, pregnancy is contraindicated if the size of the aorta exceeds 50 mm. In other cases, women must be informed about possible risks and monitored for a change in the width of the aorta. Sometimes, procedures of prophylactic aortic replacement on its entire course are conducted prior to a planned pregnancy. Regular echocardiographic check-ups (every 4–7 weeks) as well as cooperation of a gynaecologist and cardiologist are necessary. A general practitioner should inform the patient’s family about any sudden conditions that can develop in the course of Marfan syndrome (aortic dissection) and explain to them the algorithms of management (immediate call for an ambulance).
Ataxia telangiectasia, Nijmegen breakage syndrome and DiGeorge syndrome are congenital disorders belonging to the category of primary immunodeficiencies. They are characterised by remittent infections as well as predisposition to cancer and autoimmune diseases. An important sign of ataxia telangiectasia and Nijmegen breakage syndrome is an increased sensitivity of cells to ionising radiation, while DiGeorge syndrome is additionally characterised by heart defects and endocrine disorders. What all these diseases have in common are dysmorphic features of different severity, which complement the clinical picture. The signs and symptoms of the diseases may be inconclusive, they appear at various stages of life and their course is unique for every individual. The aim of the study was to present the characteristics of each syndrome while drawing special attention to dysmorphic features occurring in patients. It is important for doctors to be able to diagnose characteristic disorders of the phenotype and immune system and to match them to the right genetic syndrome. Therefore, they should take the patient’s medical history properly, perform thorough physical examination and use multiple diagnostic tools. Despite the fact that these syndromes are rare and incurable disorders, fast and accurate diagnosis gives patients a chance for an improved quality and length of life. The treatment is only symptomatic, but proper prevention can help to avoid the development of a cancer. Therefore, it is of vital importance for the general practitioners, paediatricians and other specialists to know the characteristic signs and symptoms of these syndromes and to cooperate closely with the patients’ parents.
Haemostasis is a set of processes with the aim to maintain blood in the liquid state in the vascular bed, and in the case of damage to the vessel – to prevent extravasation by clot formation (initially a platelet clot and then a fibrin clot). The main components of haemostasis include: platelets, vessel wall, plasma coagulation system, endogenous inhibitors of coagulation and fibrinolytic system. The stream of blood is also an important factor. Haemostasis is divided into two main phases: coagulation and fibrinolysis. These two phases take place simultaneously and remain in equilibrium. The prevalence of any of these processes is the result of the advantage of enzyme complex activity over the complex of the other process. In everyday practice, every physician encounters drugs that affect haemostasis. At the end of the article, the most commonly used anticoagulants and antiplatelet agents available in Poland are described with the mechanisms of their action. The effect of oral anticoagulants results from the inhibition of the transformation of vitamin K1 which is essential for the production of coagulation factors II, VII, IX and X. Acenocoumarol and warfarin are currently available in Poland. The group of new oral anticoagulants includes direct inhibitors of activated factor X: rivaroxaban, apixaban and dabigatran – a potent, competitive and reversible direct thrombin inhibitor. Anticoagulants which are used parenterally include unfractionated heparin, low molecular weight heparins and fondaparinux. Antiplatelet drugs can be divided into two groups based on the mechanism of action – drugs acting through the metabolism of arachidonic acid (aspirin) and acting on the platelet membrane receptors (ticlopidine, clopidogrel and prasugrel).
The aim of this paper was to assess the compliance with the basic principles of insulin self-administration and the selfmonitoring of blood glucose levels. Materials and methods: The study was conducted using author’s anonymous questionnaire to be completed by patients receiving insulin therapy. The questionnaires were completed by 73 patients (72% with type 2 diabetes, 18% with type 1 diabetes) who visited their family physician during the period of 3 months in 2013. Results: A total of 22 patients did not comply with the recommended interval between the administration of premeal insulin and a meal, 24 patients never measured their blood glucose levels after a meal, and as many as 57 respondents did not practice periodic self-measurements of night-time blood glucose levels. Most patients (42 respondents) reported the hospital as a place of insulin therapy training, whereas regional outpatient clinics (physicians and nurses) came second. Only 6 respondents reported diabetes clinics as the place of training. Also, 6 respondents stored their currently used insulin in a refrigerator. Conclusions: Patients receiving insulin therapy require a continuous re-education as well as periodic verification of the basic principles for the use of insulin therapy and the self-monitoring of blood glucose levels.
Asthma is a common disease, occurring increasingly among both children and adults. It is defined as a chronic inflammatory disease, characterized by hyperresponsiveness and reversible bronchial obstruction. The diagnosis of asthma in children is currently based mainly on clinical and spirometric evaluation as well as on the assessment of response to anti-inflammatory treatment. Currently there are ongoing discussions on the choice of optimal diagnostic and staging methods. Therefore, the measurement of the levels of exhaled nitric oxide (FeNO) is being seen as a viable option. The results of the measurement are obtained easily and non-invasively. High variability in the levels depending on both environmental factors and patient cooperation is a disadvantage of the test. The aim of this study was to determine the relationship between the levels of exhaled nitric oxide and the severity of asthma based on spirometric outcomes. A total of 141 children aged 5–17 years, including 35 patients diagnosed with asthma, among whom eight were in the stage of exacerbation, were qualified for the study. The control group consisted of 106 children admitted to the hospital for other reasons, with the exception of respiratory diseases. Spirometry and FeNO measurements were performed. No statistically significant differences were found between FeNO levels in patients with asthma or asthma exacerbations and the control group. The highest variation of FeNO levels was observed in the control group, indicating intersubject and factor variability of FeNO levels in exhaled gases. Although the utility of FeNO levels as an indicator of the severity of airway inflammation has been demonstrated in numerous studies, this study questions the usefulness of this parameter as a marker of asthma severity. This is probably due to the large intersubject variations in the concentration of exhaled NO, depending on patient cooperation and clinical status (and thus the accuracy of spirometry) and the fact that FeNO is affected by multiple other factors, such as diet rich in nitrogen compounds, hyperventilation, viral infections, tobacco smoke, airway pH. Only some of these factors can be eliminated, which renders the interpretation of FeNO concentration much more difficult and almost excludes its use in the diagnostics and monitoring of asthma on a large scale.
Consultation psychiatry plays an important role in developmental medicine. The concept of consultation psychiatry in general medicine includes diagnosis, support and assistance in solving psychiatric, psychological or psychosocial problems of the patient. Child psychopathology, which results from the interaction of biological and psychosocial factors, may be manifested by categorical psychiatric disorders, which may coexist with somatic diseases, and may also be a secondary reaction in response to other illnesses. The disorganisation of behaviour in patients at the developmental period may also result from the response to the disease or hospitalisation. On the other hand, mental disorders can significantly hamper the treatment of somatic diseases. The objective of this study was to determine the spectrum of psychopathology and to analyse the reasons for psychiatric consultation on the multidisciplinary wards of the University Children’s Teaching Hospital. During 9 years, 741 psychiatric consultations were carried out. The results obtained indicate that anxiety, stress-related and somatoform disorders were the most common category of mental disorders (30.5%) observed in consulted girls (30.0%) and boys (31.5%). Emotional and conduct disorders were found in 22.8% of the consulted children. There was a significant difference (p = 0.02) between boys (31%) and girls (18.3%). Eating disorders were identified in 17% of the examined group. This category, which includes anorexia nervosa, atypical anorexia and bulimia, was significantly more frequently (p < 0.001) observed in girls (23.9%) than boys (3.6%). A refusal to eat (24.4%) was, next to deliberate intake of pharmacological agents (21.7%), the most common reason for psychiatric consultations in the examined group.
Replacement of large joints in the lower limbs is a commonly accepted and used method for the treatment of osteoarthritis. Like any other intervention, this treatment method also involves the risk of complications. Periprosthetic joint infection is one of the most serious ones. It qualifies patients for further procedures, which significantly impairs their daily activity and the comfort of life. Osteoarticular infections represent a major therapeutic challenge. This is associated with both, poor penetration of antibiotics into the osteoarticular compartment (system) as well as with the increasing drug resistance of pathogens. Osteoarticular infections require several weeks of antibiotic therapy, as an adjunct treatment, which is an additional financial burden. The implementation of primary prevention scheme in periprosthetic joint infection allows for a significant reduction in the risk of this complication. The article discusses the different nature of the infection within joints and orthopaedic implants. We have presented the key principles for the prevention of septic complications associated with total hip and knee replacement, by discussing the most common sources of primary infection. We have proposed a treatment algorithm based on diagnostic tests reducing the risk of infectious complications and increasing the safety of surgical intervention (surgical procedure) as well as the chances for good long-term treatment outcomes.
The problem of thromboembolic complications concerns nearly all orthopaedic and trauma patients. However, risk factors are different and prophylaxis slightly varies depending on the complication. The presence of thrombosis of complex and insidious clinical picture, which is presented in this case report, is alarming. The article reports a case of a 64-year-old male patient with risk factors of thromboembolism. The patient underwent high tibial osteotomy for varus deformity correction due to gonarthrosis. Venus thrombosis and pulmonary embolism developed in the postoperative period. Additionally, symptoms of infection appeared during the treatment in the form of inappropriate wound healing, which was an indication for surgical revision of the wound. The authors present the manner of safe perioperative management of a patient, which is consistent with the standards, taking into account the risk of recurrence of thromboembolism.
Introduction: Nephrotic syndrome in children is usually idiopathic and the first episode is rarely observed before the 1st year of life. Viral infections are a rare cause of this condition. Case report: The paper presents a case of a 9-month-old infant who developed nephrotic syndrome secondary to cytomegalovirus infection. The course of the disease was atypical – not all symptoms of nephrotic syndrome were present; only progressing proteinuria was observed. Proteinuria was preceded by respiratory tract infection with fever. Due to delayed access to serology test results, a combined therapy with glucocorticosteroids and ganciclovir was administered. A rapid remission was obtained. There were no early complications of the therapy and no relapse of nephrotic syndrome. Conclusions: The viral background of nephrotic syndrome should be considered in patients below the 2nd year of life and when the course of the disease is atypical. Causal treatment can then lead to a permanent and complete remission. This aspect distinguishes this form of nephrotic syndrome from its typical forms affecting the youngest patients – classical forms tend to be steroid-dependent or steroid-resistant.
Impetigo is a fairly common disease of the childhood. This infection exists in two distinct forms: bullous and non-bullous impetigo. In non-bullous impetigo, a tiny vesicle or pustule shows initially and after 4–6 days develops into a honey-coloured crusted plaque. Bullous impetigo is always caused by Staphylococcus aureus, a bacterium that produces exfoliative toxins (ETA and ETB). Infection is limited to the superficial layers of the skin, and skin changes typically occur on the face and limbs. The disease is most prevalent in children aged 2 to 5, but it can occur at any age. The treatment involves topical or systemic antibiotics depending on the severity of symptoms and the patient’s condition. The differential diagnosis of impetigo includes: staphylococcal scalded-skin syndrome, Herpes simplex infection, eosinophilic pustular folliculitis, epidermolysis bullosa, pemphigus and pemphigoid. The differentiation between impetigo and staphylococcal scalded-skin syndrome can be challenging. Both diseases are caused by the same strain of Staphylococcus aureus that produces exfoliative toxins. However, in impetigo toxins are produced only within skin lesions whereas in staphylococcal scalded-skin syndrome, toxins are produced in organs colonised by Staphylococcus aureus and then released systemically. In the course of staphylococcal scalded-skin syndrome severe tenderness of the skin and a positive Nikolsky’s sign are observed. The paper presents two cases of impetigo in infants. In both cases, the correct diagnosis was not established immediately, which delayed appropriate treatment. In one of the cases, due to the imprecise initial diagnosis and the lack of the holistic approach to the patient, a correct diagnosis was established so late, that a systemic infection developed.
Ectopic pancreas is defined as the presence of normotypic pancreatic tissue lying outside its anatomical location and lacking nervous or vascular connections with the pancreas. Ectopic pancreas in the stomach and duodenum represent locations that most often result in clinical symptoms. So far, 22 cases of such locations have been described, including 16 patients with lesions located in the major duodenal papilla and 6 patients with lesions located in the common bile duct. The severity of jaundice depends on the size of ectopic lesion. Treatment is initiated only in the case of the occurrence of clinical symptoms or ectopic tumour, and the choice of therapeutic method depends on the size and location of the lesion. The prognosis is favourable, even in the case of late sequelae. This article presents a case of a 54-year-old male with focal ectopic pancreas in the vicinity of the ampulla of Vater resulting in the obstruction of the opening of the common bile duct into the duodenum and, consequently, mechanical jaundice.