Molecular aspects of the etiopathogenesis of the parathyroid gland diseases

W pracy przedstawiono aktualne poglądy na temat molekularnych podstaw rodzinnie występujących chorób przytarczyc (rodzinnie występującą pierwotną nadczynność przytarczyc, niedoczynność przytarczyc oraz rzekomą niedoczynność przytarczyc). Omówiono sposób dziedziczenia tych chorób oraz zmiany genetyczne. Szczególnie opisano następujące geny: HRPT2, MEN1, RET, CASR, GNAS. Podano lokalizację tych genów, ich strukturę i ekspresję oraz zmiany strukturalne (mutacje) znalezione u osób z chorobami przytarczyc rodzinnie występującymi. Zwrócono uwagę na objawy kliniczno-histopatologiczne stanowiące wskazanie do przeprowadzenia genetycznych.Current views on the molecular aspects of familial parathyroid gland diseases have been presented (familial primary hyperparathyroidism, hypoparathyroidism and psuedohypoparathyroidism). Their inherited mode and genetic abnormalities have been described. Particularly, the following genes: HRPT2, MEN1, RET, CASR, GNAS have been shown. Localization, structure, expression and structural changes (mutations) found in patients with familial parathyroid gland diseases have been presented. Attention has been paid to clinical and histopathologic symptoms, which should indicate the need to undertake genetic studies

Molecular aspects of the etiopathogenesis of the parathyroid gland diseases

Current views on the molecular aspects of familial parathyroid gland diseases have been presented (familial primary hyperparathyroidism, hypoparathyroidism and psuedohypoparathyroidism). Their inherited mode and genetic abnormalities have been described. Particularly, the following genes: HRPT2, MEN1, RET, CASR, GNAS have been shown. Localization, structure, expression and structural changes (mutations) found in patients with familial parathyroid gland diseases have been presented. Attention has been paid to clinical and histopathologic symptoms, which should indicate the need to undertake genetic studies

Hormones and the cardiovascular system

Hormony wywierają wpływ na wiele tkanek i narządów, w tym również na układ sercowo-naczyniowy (CVS). W zależności od rodzaju aktywności w obrębie CVS hormony dzieli się na działające hipotensyjnie lub presyjnie oraz działające chronotropowo dodatnio i ujemnie. Regulacja endokrynna w układzie krążenia może zachodzić na wielu drogach. Obok hormonów zwyczajowo wiązanych z CVS jest też wiele innych, niedawno odkrytych. Ich działanie może być bezpośrednie (przez swoiste receptory w ścianie naczyń lub w obrębie komórek serca) lub pośrednie (przez inne czynniki neuroendokrynne). Ponadto, w przypadku hormonów steroidowych i tarczycy zaangażowane są nowo poznane, niezależne od regulacji transkrypcji, mechanizmy przekazywania sygnału - tak zwane „niegenomowe”. Spośród hormonów podwyższających ciśnienie tętnicze należy wymienić: urotensynę II, endoteliny, angiotensynę II, katecholaminy, aldosteron, hormon antydiuretyczny, glikokortykosteroidy, hormony tarczycy, hormon wzrostu i leptynę. Z kolei obniżają ciśnienie tętnicze następujące hormony: peptydy natriuretyczne, rodzina peptydu związanego z genem kalcytoniny (CGRP), angiotensyna 1-7, substancja P, neurokinina A, grelina, hormon podobny do parathormonu (PTHrP), oksytocyna i hormony płciowe. Hormonami wywołującymi w nadmiarze przyspieszenie czynności serca są: katecholaminy, endoteliny, glikokortykosteroidy, hormony tarczycy, leptyna i PTHrP. Te, które zwalniają czynność serca to: peptydy natriuretyczne, substancja P, neurokinina A, oksytocyna, angiotensyna 1-7. W pracy przedstawiono współczesne poglądy, dotyczące działania hormonów wpływających na serce i naczynia. Efekt działania części mediatorów nie zawsze jest taki sam i zależy między innymi od stężenia hormonu, receptora, na który oddziałuje; może podlegać kontrregulacji. Większość substancji odgrywa ważną rolę w patogenezie chorób CVS, przez co stanowią przedmiot badań w kierunku odkrycia nowych leków. (Endokrynol Pol 2008; 59 (5): 420-432)Hormones have an influence on many tissues and organs, including the cardio-vascular system (CVS). Depending on their activity on CVS, they can be divided into 4 groups: having hypertensive or hypotensive influence and chronotropic positive or negative action. Endocrine regulation in CVS may occur in many ways. Apart from hormones usually connected with CVS regulation, other more recently, discovered ones can act on it. A few of these act directly through specific receptors in heart or vessel wall cells, whereas some act indirectly - stimulating other neuroendocrine factors. Additionally, novel mechanisms of signal transduction have been discovered for steroid and thyroid hormones, which are independent of gene transcription regulation and are - known as "nongenomic". Hormones which increase blood pressure include: urotensin II, endothelins, angiotensin II, catecholamines, aldosterone, antidiuretic hormone, glucocorticosteroids, thyroid hormones, growth hormone and leptin. On the other hand, blood pressure can be decreased by: natriuretic peptides, the calcitonin gene-related peptide (CGRP) family, angiotensin 1-7, substance P, neurokinin A, ghrelin, Parathyroid hormone-related protein (PTHrP), oxytocin, and, sex hormones. Hormones which when appearing in excess increase the heart rate are: catecholamines, endothelins, glucocorticosteroids, thyroid hormones, leptin and PTHrP. Those which decrease the heart rate include: natriuretic peptides, substance P, neurokinin A, oxytocin, angiotensin 1-7. This paper describes the contemporary view of the functions of hormones which act on the vessel tree and heart. The particular effect of mediator depends on many circumstances i.e.: hormone concentration, receptor type. It may also undergo contraregulation. The majority of those hormones play an important role in the pathogenesis of CVS diseases’, which can result in the development of new medicines. (Pol J Endocrinol 2008; 59 (5): 420-432

Ocena gruczołu piersiowego u kobiet leczonych z powodu choroby guzkowej tarczycy

The relationship between various mammary gland diseases and thyroid disorders has been the focus of interest at many research centres. What has been investigated are various genetic and hormonal underlying factors and conditions as well as the co-existence diseases of both organs.The aimOf the work was to examine the mammary gland in women treated for nodular thyroid disorders.Material and methodsAn analysis is presented comprising 269 patients with a diagnosed nodular thyroid disorders. The diagnosis of the breast included palpation, mammography, ultrasonography. In cases of suspected lesions additionally fine-needle aspiration and surgical biopsy were performed.ResultsBreast cancer, benign lesions and no pathology were found in 2%, 23% and 75% of all patients.ConclusionsA significantly greater incidence of breast cancer was observed, which justifies especially careful diagnosis of the breast in patients with a well-diagnosed thyroid disorder.Związek pomiędzy różnymi schorzeniami gruczołu piersiowego i chorobami tarczycy wzbudza zainteresowanie licznych ośrodków badawczych. Analizowane są uwarunkowania genetyczne, hormonalne, jak również współistnienie chorób obu narządów.Celem pracyJest ocena gruczołu piersiowego u kobiet leczonych z powodu choroby guzkowej tarczycy.Materiał i metodaW pracy przedstawiona jest analiza 269 chorych z rozpoznaną chorobą guzkową tarczycy. Diagnostyka gruczołu piersiowego obejmowała: badanie palpacyjne, mammografię, ultrasonografię, a w przypadku stwierdzenia zmiany dodatkowo: punkcję cienkoigłową i biopsję chirurgiczną.WynikiU 2% badanych rozpoznano raka gruczołu piersiowego, u 23% stwierdzono zmiany łagodne, a u 75% nie wykryto żadnej patologii.WnioskiStwierdzono wyraźnie zwiększoną zachorowalność na raka piersi, co uzasadnia szczególnie wnikliwą diagnostykę gruczołu piersiowego u chorych z rozpoznaną chorobą tarczycy

Health significance of body position during sleep - literature review

Introduction: Sleep is a fundamental biological need of the body, crucial for maintaining health and body’s regeneration. The body position during sleep not only affects sleep quality and well-being but also influences various health aspects, such as obstructive sleep apnea, back pain or gastroesophageal reflux. Aim of the study: The aim of our study is to summarize the impact of body position during sleep on human health. We paid attention to the relationship between sleep position and aspects like: sleep quality, obstructive sleep apnea, back pain and gastroesophageal reflux. State of knowledge: The body position during sleep is crucial for maintaining mental and physical health. It affects sleep quality as well as health aspects such as: obstructive sleep apnea, back pain or gastroesophageal reflux disease. In the case of sleep quality, the most beneficial position is on the right side. The supine position is associated with worsened obstructive sleep apnea, while on the side - with reducing the frequency of symptoms. Neck pain is connected with an asymmetrical side and an upright  head position, while lower back pain is associated with a supine position. The described position that reduces the reflux of gastric contents into the esophagus, and thus reduces the symptoms of reflux disease, is on the left side and with an elevated head of the bed. Summary: Sleep position is significant for many aspects of human health. Besides affecting sleep quality and well-being, it also has an impact on conditions such as obstructive sleep apnea, back pain and gastroesophageal reflux

Turner’s Syndrome – genetic, diagnostic methods and clinical treatment

Introduction : Turner syndrome (TS) is one of the most common genetic disorders affecting approximatley 1 in 2,000-25000 live-born girls. TS is the result of complete oraz partial monosomy of the C chromosome. About half have monosomy X (45,X) and 5-10% have duplication (isochromosome) of the long arm of one X (46,X,i(Xq)). Most of the rest have mosaicism.(1)  The aim of the study: The purpose of this review paper is to present the observations regarding this disease, including epidemiology, diagnosis and detailed examination of the individual needs of the patient affected by the disease.  Matrials and methods: This review was based on available data collected in the PubMed database and Google Scholar web serach engine, using key words: Turner’s syndrome, diagnosis of Turner Syndrome, sex chromosome aneuploidies  Summary: The article draws attention to the complexity of Turner syndrome, the variety of symptoms and the progress in the diagnosis and therapy of this disease. Early diagnosis, specialist care and modern therapeutic methods have a positive impact on the quality of life of TS patients. Future studies of molecular mechanisms and therapeutic efficacy may improve the care of patients affected by this rare disease

Food Allergies - Trends and Challenges in Treatment and Diagnosis

Introduction: Food allergies are becoming an increasingly significant challenge for medicine, public health and patients' quality of life. Over the past few decades, there has been an observed increase in the number of cases of food allergies. This has led to heightened interest among scientists, doctors and specialists in various aspects related to the diagnosis and treatment of this condition. With the increasing precision of food allergy diagnosis, it is necessary to adjust the therapy to the individual needs of patients. Aim of the study: The aim of our study is to summarize the trends and challenges in treatment and diagnosis of food allergies. We focused on current diagnostic methods and treatment options, as well as new promising therapeutic approaches. State of knowledge: In molecular or component-resolved diagnostic tests (CRD), specific IgE antibodies are measured for individual food allergenic molecules. This presents an opportunity to improve specificity for selected foods. Studies have shown that the Basophil Activation Test (BAT) exhibits higher specificity than skin prick tests (SPT) and s-IgE tests, while maintaining its sensitivity. BAT relies on flow cytometry, where the expression of activation markers on the surface of basophils stimulated by an antigen is measured. Due to the existing limitations of certain tests, Oral Food Challenge (OFC) is still considered the gold standard for diagnosing IgE-mediated food allergies.Summary:Research shows that the foundation of diagnosis is the patient's medical history, including a properly collected interview, which should then guide the doctor towards appropriate tests. An elimination diet based on the clinical interview should be implemented until significant relief of allergy symptoms is achieved

Constipation - a patient's discomfort or a disturbing symptom - an overview of current knowledge

Introduction: Constipation is identified as too few bowel movements (≤2/week; severe constipation is ≤2 bowel movements per month) or hard stools (Bristol Formation Scale 1 and 2) that are passed with effort, often with a sensation of incomplete defecation .   Purpose of study: The aim of this review is to present key aspects of constipation, including epidemiology, diagnosis, management and clinical treatment directed to the individual patient and individual therapy.   Materials and methods: The review was based on the available literature in the PubMed database and the Google Scholar search engine using the key words: "constipation"; “constipation diagnosis”; “constipation treatment”.   Conclusions: Constipation is a common health problem that affects people of all ages. It is the most frequently reported ailment in gastroenterological practice. Not only are they a cause of patient discomfort, but they are often an alarming symptom of a larger pathology in the human body. Correct diagnosis often includes multi-aspect diagnostics, in which doctors of various specialties are involved, and correct treatment significantly improves the quality of life of patients

Methods of childbirth induction – a review of current knowledge

Introduction: Pregnancy lasts 40 weeks from the first day of the last menstrual period, i. e. 280 days or 264 days from conception. It has been established that a child born between 37+0 and 41+6 weeks of gestation is a child born "on time". Unfortunately, in some cases it is necessary to terminate the pregnancy earlier, due to the condition of the pregnant woman, the baby or the approaching 42 weeks of pregnancy. Aim of the study: The aim of our study is to summarize available options for induction of childbirth. Particular attention was paid to available pharmacology and mechanical methods. The methods were compared in terms of effectiveness, possible complications and side effects. Materials and methods: A review of the current literature was made in the accessible PubMed and Google Scholar database, using the keywords: „birth induction”, „Cook’s catether”, „prostaglandin and oxitocine induction”, „amniotomy”, „membran stripping”. Conclusions: There are several ways to induce childbirth, which are used depending on current state of pregnacy. The availability of both pharmacotherapy and mechanical methods, allows the initiation of labor and termination of pregnancy by natural forces, in most cases avoiding the need to terminate the pregnancy by caesarean section

Syphilis - a disease that still occurs

Introduction: Syphilis is a systemic disease caused by Treponema pallidum. Humans are the only hosts, and the incubation period lasts from 9-90 days. Currently it can be divided into congenital or acquired. This division is due to the moment in which the infection occurred. Congenital Syphilis- when the infection happens during the prenatal period, whereas acquired, when the infection took place in the period after birth. In early acquired syphilis the I and II stages can be distinguished as well as early latent syphilis. As defined, early latent syphilis includes an acquired infection up to 1 or 2 years back, depending on the guidelines. Late syphilis however includes: late latent syphilis, tertiary syphilis, late cardiovascular syphilis, late neurosyphilis. Congenital syphilis has also been divided into early (which includes the first 2 years) as well as late, which is characterised by signs of congenital syphilis, the so-called stigmata of congenital syphilis constituting the untreated infection during the fetal stage or the infancy stage.  Aim of the Study: The aim of our study is to divert the attention to one of the sexually transmitted diseases, which despite the downward trend at the end of the 20th century, rebounded at the beginning of the 21st century, especially among men who have sexual contact with other men. We paid attention to the symptoms accompanying this disease, also in the context of congenital syphilis, as well as the different methods of pharmacological treatment according to European guidelines.  Materials and methods: Reviewed literature available at scientific articles , Google Scholar using keywords: “syphilis – epidemiology”, “syphilis treatment”, “symptoms of syphilis”, as well as European guidelines regarding the treatment of syphilis