Issues of Rehabilitation, Orthopaedics, Neurophysiology and Sport Promotion -IRONSJOINT AND FASCIA MANIFESTATIONS IN THE COURSE OF GRAFT-VERSUS-HOST DISEASE (GVHD)… AimPresentation of a case of a young patient with a chronic form of GVHD disease, who developed extensive joint changes. Material and methodsThe case of a 17-year-old patient after allogeneic bone marrow transplantation was presented, in which about 3 months after the transplantation the first symptoms of graft-versus-host disease were diagnosed. The boy developed extensive changes in the joints and fascia, allowing the patient to be qualified to Category 3 according to the NIH Consensus Criteria. The course of the diagnostic process, treatment, and rehabilitation, as well as their results at particular stages of hospitalization, are presented. Results and conclusionsDue to the multifaceted nature of the disease, proper care and rehabilitation of patients with GvHD are not only needed for aesthetic reasons but above all to significantly restore function and improve the quality of life, especially locomotion. Early diagnosis and implementation of proper rehabilitation treatment are essential in preventing complications associated with the chronic form of the disease.
Common variable immunodeficiency (CVID) is one of the most prevalent, heterogenous primary immunodeficiency syndromes in children and adults. Besides impaired immunoglobulin production by B cells, abnormalities in almost all components of the immune system have been desribed in CVID. The clinical pictures of CVID includes acute and chronic infections, inflammatory and autoimmune diseases, and can be associated with an increased incidence of cancer and lymphoma. Due to the plurality of clinical manifestations and different ages of occurance, diagnosis of CVID is difficult and belated in relation to primary symptoms. Patients with CVID require an integrated interprofessional team approach to minimalize complications of the disease and to improve patient outcomes. The article presents the clinical case of 11-yearold girl diagnosed with CVID in day-today medical practice.
Introduction. Primary immunodeficiency diseases (PID) are a diverse group of rare genetic disorders that affect the development and/or function of the immune system. Affected individuals are predisposed to an increased rate and severity of infections, allergy, autoimmunity and malignancy. Primary immunodeficiency diseases are considered rare; physicians and general practitioners have little knowledge about the clinical presentation, diagnostic approach and health impact of PID. Many PID patients have a clinical history in favour of allergic diseases. Nevertheless, in these patients, the importance and prevalence of atopic disorders have not been completely explained. Aim. The aim of this study was to evaluate atopic presentations, including atopic dermatitis, allergic rhinitis and asthma in a group of PID patients under the care of our clinic. Material and Methods. Fifty-seven pediatric patients with PID primary immunodeficiency diseases were enrolled from March 2018 to April 2019. Serum IgE levels were measured. Information regarding the patient’s history of allergic diseases, including asthma, allergic rhinitis and atopic dermatitis were analysed. Results and Conclusions. Confirmed allergy/asthma was found in 40 patients (70%). Thirty-eight patients (66.7%) had a diagnosis of asthma, 7 patients (12.3%) of allergic rhinitis and 13 (22.8%) of atopic dermatitis. Serum IgE total level was elevated in 12 patients (21%).
Blastocystis hominis is one of the most common parasites present in the human gastrointestinal tract. Transmission usually occurs via food and water contaminated with cystic forms or via the faecal-oral route. The prevalence of infection is approximately 30-50% in developing countries and about 1.5-10% in developed ones. Blastocystis hominis was long considered as a large intestine commensal due to asymptomatic infestation, possibly characterised by temporary or permanent gastrointestinal carrier state, in some cases. Currently, this protozoan is considered pathogenic as symptoms develop in the course of infestation, especially in infected immunocompromised individuals. The importance of Blastocystis hominis as a factor responsible for enteral and parenteral symptoms is underestimated in clinical practice, and the infestation with this parasite is underdiagnosed. We present a case of a 5-year-old boy infected with Blastocystis hominis, who developed gastrointestinal symptoms and urticaria.
Germline mutations in the SMAD4 gene cause juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. In some cases, the coexistence of these 2 syndromes can be observed among probands with the mutation in the SMAD4 gene. A combined syndrome of juvenile polyps of the gastrointestinal tract and hereditary haemorrhagic telangiectasia caused by mutations of the SMAD4 gene is recognized as a distinct disease entity (OMIM #175050). Herein we present a case of a teenage boy with an affected family history, who was admitted to our department in order to broaden the diagnosis of the causes of his rectal bleeding and recurrent nasal bleeding. In the course of investigation polyps in his gastrointestinal tract and arteriovenous malformations in his lungs were revealed.
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