Familial hypercholesterolemia - treatment update in children, systematic review.

Familial hypercholesterolaemia is one of the most common genetic diseases, and its first symptoms occur in childhood. Proper diagnosis and treatment prevent young patients from severe consequences in their future. The treatment of this dyslipidaemia is still evolving, and new promising agents are being discovered. In this review we summarize the old and new treatment methods of familial hypercholesterolaemia, giving an update estimated on the latest publications.

Acromegaly Caused by Ectopic Growth Hormone Releasing Hormone Secretion: A Review.

Introduction: Ectopic acromegaly is a rare condition caused most frequently by growth hormone releasing hormone (GHRH) secretion from neuroendocrine tumors. The diagnosis is often difficult to establish as its main symptoms do not differ from those of acromegaly of pituitary origin. Objectives: To determine most common clinical features and diagnostic challenges in ectopic acromegaly. Patients and Methods: A search for ectopic acromegaly cases available in literature was performed using PubMed, Cochrane, and MEDline database. In this article, 127 cases of ectopic acromegaly described after GHRH isolation in 1982 are comprehensively reviewed, along with a summary of current state of knowledge on its clinical features, diagnostic methods, and treatment modalities. The most important data were compiled and compared in the tables. Results: Neuroendocrine tumors were confirmed in 119 out of 121 patients with histopathological evaluation, mostly of lung and pancreatic origin. Clinical manifestation comprise symptoms associated with pituitary hyperplasia, such as headache or visual field disturbances, as well as typical signs of acromegaly. Other endocrinopathies may also be present depending on the tumor type. Definitive diagnosis of ectopic acromegaly requires confirmation of GHRH secretion from a tumor using either histopathological methods or GHRH plasma concentration assessment. Hormonal evaluation was available for 84 patients (66%) and histopathological confirmation for 99 cases (78%). Complete tumor resection was the main treatment method for most patients as it is a treatment of choice due to its highest effectiveness. When not feasible, somatostatin receptor ligands (SRL) therapy is the preferred treatment option. Prognosis is relatively favorable for neuroendocrine GHRH-secreting tumors with high survival rate. Conclusion: Although ectopic acromegaly remains a rare disease, one should be aware of it as a possible differential diagnosis in patients presenting with additional symptoms or those not responding to classic treatment of acromegaly.

MEN2B syndrome - paediatric case report.

Multiple endocrine neoplasia 2B (MEN 2B) is a rare syndrome caused by mutation of the RET proto-oncogene. Early-onset medullary thyroid carcinoma (MTC), marfanoid habitus, and mucosal neuromas occur in most cases, and some patients develop pheochromocytoma in later life. We present a case of a 16-year-old girl diagnosed with MEN 2B syndrome with an atypical course of the disease. Our patient had no family history of MTC and presented short stature instead of marfanoid features. Rare ophthalmological manifestations also occurred. The example of this patient proves that rare endocrinological syndromes should be taken into consideration when diagnosing unclear symptoms, even if not all of the typical manifestations are present.

Lipid Complications after Hematopoietic Stem Cell Transplantation (HSCT) in Pediatric Patients.

HSCT (hematopoietic stem cell transplantation) is a widely applied method of treatment of pediatric patients with leukemia and other bone marrow-associated disorders. Metabolic disturbances can appear as procedure side effects. This study aimed to report incidence of lipid and thyroid disorders and time of their onset in pediatric patients after HSCT. There were 198 pediatric patients (123 males) aged 0.5-20 years who were subjected to HSCT. Patients were mostly diagnosed with Acute Leukemia (n = 190). The analysis of lipids, thyroid hormones, and thyroid antibodies levels comprised one month before the HSCT to last follow up visit between 2016 and 2019 (median 3.8 ± 1.8 years after HSCT). In males, the triglycerides levels increased over two times in the course of HSCT in both patients with initially low and elevated HDL (high-density lipoprotein) levels. Most of the lipid disorders occurred in six months after HSCT. Patients treated with L-thyroxine exhibited decreased LDL (low-density lipoprotein) levels. HDL remained at a lower level in males. Thyroid hormone abnormalities were evenly distributed in time until 4 years after HSCT. Patients require long term follow up including lipid metabolism and thyroid function analysis. HSCT survivors demand introduction of polyunsaturated fatty acids into the diet to reduce risk of developing the lipid complications.

Lipid composition of the cancer cell membrane.

Cancer cell possesses numerous adaptations to resist the immune system response and chemotherapy. One of the most significant properties of the neoplastic cells is the altered lipid metabolism, and consequently, the abnormal cell membrane composition. Like in the case of phosphatidylcholine, these changes result in the modulation of certain enzymes and accumulation of energetic material, which could be used for a higher proliferation rate. The changes are so prominent, that some lipids, such as phosphatidylserines, could even be considered as the cancer biomarkers. Additionally, some changes of biophysical properties of cell membranes lead to the higher resistance to chemotherapy, and finally to the disturbances in signalling pathways. Namely, the increased levels of certain lipids, like for instance phosphatidylserine, lead to the attenuation of the immune system response. Also, changes in lipid saturation prevent the cells from demanding conditions of the microenvironment. Particularly interesting is the significance of cell membrane cholesterol content in the modulation of metastasis. This review paper discusses the roles of each lipid type in cancer physiology. The review combined theoretical data with clinical studies to show novel therapeutic options concerning the modulation of cell membranes in oncology.

Oral cavity fungal flora among HIV-positive people.

BACKGROUND: Immunosuppressed patients, also those who are HIV-positive patients, are susceptible to oral cavity fungal infections. AIM OF STUDY: In this study, we aimed to show differences in qualitative composition of oral cavity flora between HIV-positive people and healthy controls and identify factors which affect fungal oral cavity flora. MATERIALS AND METHODS: The study group contained HIV-positive people and a control group of healthy people. All cultured species were analysed using MALDI-TOF MS. RESULTS: More HIV-positive people had two or more fungus species present than controls (p=0.008). Seven species were cultured in the study group compared to three in the control group. Smoking was associated with higher prevalence of C. albicans (p=0.03), C. glabrata (p=0.026), C. tropicalis (p=0.01). Dental prosthesis or braces was also associated with presence of more species (p=0.04).The lower level of lymphocytes CD4+ was not associated with fungus presence in oral cavity. CONCLUSIONS: HIV infection is associated with changes to oral cavity fungal flora. Given the higher number of non-albicans species among HIV-positive patients it is important to individually choose a treatment for such patients' fungal infections. Proper oral hygene and not smoking can reduce prevalence of fungi in oral cavity. Patients' immunological status did not have an impact on the frequency of Candida species isolation from the oral cavity.