Antiphospholipid Syndrome with Antiβ2glicoprotein-1 Antibodies as the Cause for Recurrent Tibial Vein Thrombosis in SAPHO Syndrome A case report

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Factors determining bone mineral density and trabecular bone score in young women with hyperandrogenism

Sowińska-Przepiera Elżbieta, Syrenicz Małgorzata, Andrysiak-Mamos Elżbieta, Niedzielska Mirela, Przepiera Adam, Soszka Ewelina, Syrenicz Anhelli, Korabiusz Katarzyna. Factors determining bone mineral density and trabecular bone score in young women with hyperandrogenism. Journal of Education, Health and Sport. 2017;7(9):190-202. eISSN 2391-8306. DOI http://dx.doi.org/10.5281/zenodo.891101 http://ojs.ukw.edu.pl/index.php/johs/article/view/4814 https://pbn.nauka.gov.pl/sedno-webapp/works/831470 The journal has had 7 points in Ministry of Science and Higher Education parametric evaluation. Part B item 1223 (26.01.2017). 1223 Journal of Education, Health and Sport eISSN 2391-8306 7 © The Authors 2017; This article is published with open access at Licensee Open Journal Systems of Kazimierz Wielki University in Bydgoszcz, Poland Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. This is an open access article licensed under the terms of the Creative Commons Attribution Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. The authors declare that there is no conflict of interests regarding the publication of this paper. Received: 01.09.2017. Revised: 10.09.2017. Accepted: 13.09.2017. FACTORS DETERMINING BONE MINERAL DENSITY AND TRABECULAR BONE SCORE IN YOUNG WOMEN WITH HYPERANDROGENISM Sowińska-Przepiera Elżbieta1, Syrenicz Małgorzata2, Andrysiak-Mamos Elżbieta1, Niedzielska Mirela1, Przepiera Adam3, Soszka Ewelina3, Syrenicz Anhelli1, Korabiusz Katarzyna4 1Department of Endocrinology, Metabolic Disorders and Internal Diseases, Pomeranian Medical University in Szczecin 2Department Laboratory of Propedeutics of Children’s Diseases, Pomeranian Medical University in Szczecin 3Students’ Research Organization at the Department of Endocrinology, Metabolic Disorders and Internal Diseases, Pomeranian Medical University in Szczecin 4Doctoral Studies, Pomeranian Medical University in Szczecin Abstract TBS seems to be more a reliable determinant of bone quality in patients with this condition, since contrary to BMD, it is less susceptible to confounding effects of altered hormonal and metabolic parameters. Keywords: bone mineral density, hyperandrogenis

Predyspozycje genetyczne oraz krótko- i długoterminowe efekty terapii hormonalnej na gęstość mineralną kości u dziewcząt z brakiem miesiączki typu funkcjonalnego

Introduction: The aim of this study was to verify if genetic factors influence the short- and long-term therapeutic responses to oestroprogestagen (OP) therapy, implemented in girls with functional hypothalamic amenorrhoea (FHA) in order to improve their bone mineral density (BMD). Material and methods: The study included 78 FHA girls who underwent a four-year sequential OP therapy with 17-beta oestradiol and didrogesterone. Changes in the lumbar spine BMD were determined at the end of the therapy and six years after its discontinuation, and analysed in regards to PvuII and XbaI polymorphisms of oestrogen receptor-alpha gene, BsmI polymorphism of vitamin D3 receptor gene, and Sp1 polymorphism of the type-1 collagen gene. Results: After four years of OP therapy, a significant increase in BMD was documented in the studied group. Follow-up densitometry performed six years after completing the therapy revealed a significant decrease in BMD level; nonetheless, the values of this parameter were still significantly higher compared to pretreatment level. Neither the particular polymorphisms nor their combinations influenced the relative change in BMD at the end of the therapy and after a six-year follow-up. Conclusions: Variability of genes involved in oestrogen, vitamin D3 and collagen metabolism does not influence the short- and long-term results of OP therapy in girls with FHA. (Endokrynol Pol 2012; 63 (6): 420&#8211;426)Wstęp: Celem niniejszej pracy było ustalenie, czy czynniki genetyczne wpływają na bliskie i odległe wyniki terapii estrogenowo-progestagenowej, zastosowanej w celu normalizacji gęstości mineralnej kości (BMD, bone mineral density) u dziewcząt z brakiem miesiączki typu funkcjonalnego (FHA, functional hypothalamic amenorrhoea). Materiał i metody: Badaniem objęto 78 dziewcząt z FHA poddanych 4-letniej sekwencyjnej terapii estrogenowo-progestagenowej 17- beta estradiolem i didrogesteronem. Wielkość zmian w BMD odcinka lędźwiowego kręgosłupa oceniano po zakończeniu terapii oraz 6 lat później. Uzyskane wyniki analizowano w odniesieniu do występowania u pacjentek: polimorfizmów PvuII i XbaI genu receptora estrogenowego alfa, polimorfizmu BsmI genu receptora witaminy D3, oraz polimorfizmu Sp1 genu kolagenu typu 1. Wyniki: Po 4 latach terapii estrogenowo-progestagenowej w badanej grupie odnotowano znamienny wzrost BMD. Kontrolne badanie densytometryczne wykonane po 6 latach od zakończenia leczenia wykazało znamienny spadek poziomu BMD; tym niemniej, wartości tergo parametru były wciąż istotnie wyższe w porównaniu z poziomem przed rozpoczęciem terapii. Na względną zmianę poziomu BMD bezpośrednio po zakończeniu leczenia oraz 6 lat później nie wpływało w sposób istotny występowanie żadnego z analizowanych polimorfizmów ani ich kombinacji. Wnioski: Zmienność genów zaangażowanych w przemiany estrogenów, witaminy D3 i kolagenu nie wpływa na bliskie i odległe wyniki terapii estrogenowo-progestagenowej u dziewcząt z FHA. (Endokrynol Pol 2012; 63 (6): 420&#8211;426

RISK FACTORS FOR EXTRA-ARTICULAR SIGNS IN SPONDYLOARTHRITIS

Background: There are data that development of different extra articular symptoms in seronegative spondyloarthropathies (SpA) is connected with elevated levels of different markers of inflammatory process Objectives: The aim the study was to assess risk factors of different extra-articular symptoms in SpA. Methods: We studied 287 SpA patients: 131 had AS, 110 had PsA, and 46 had SAPHO. We assessed extra-articular symptoms in all cases. In 191 SpA patients, we measured serum interleukin–6 (IL-6), interleukin–18 (IL-18), interleukin–23 (IL-23), endothelin-1 (ET-1) Results: In SpA patients as compared to healthy controls: 1. Increased serum levels of IL-6 (P=0.02), IL-23 (P=0.03), and Il-18 (P=0.0006) were associated with increased risk of acute anterior uveitis (AAU). 2. Increased serum levels IL-18 (P=0.03) were associated with an increased risk of inflammatory bowel disease (IBD). 3. Increased serum levels of IL-18 (P=0.0002) and decreased serum levels of ET-1 (P=0.006) were associated with increased risk of skin psoriasis. 4. Increased serum levels of IL-18 (P=0.0002) and decreased serum levels of ET-1 (P=0.008) were associated with increased risk of psoriatic onychopathy. 5. Increased serum levels of IL-18 (P=0.01) was associated with increased risk of palmo-plantar pustulosis. SpA patients with AAU (P=0.0008) and IBD (P=0.03) had higher VAS. SpA patients with skin psoriasis (P=0.001) and psoriatic onychopathy(P=0.006) had lower VAS. Conclusions: In SpA patients, increased serum IL-18 and decreased serum ET-1 were associated with an increased risk of extra-articular symptoms. Increased VAS was connected with AAU and IBD, decreased VAS – with skin psoriasis and psoriatic onychopathy

SAPHO SYNDROME – CLINICAL SYMPTOMS, IMAGING AND TREATMENT – BASED ON A GROUP OF POLISH PATIENTS

Background: Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a very rare disease presenting as a constellation of skin and osteoarticular symptoms. Objectives: We studied clinical symptoms, imaging and treatment in 52 Polish SAPHO patients. Methods: The following data were recorded: age, sex, disease duration, type of joint involvement, type of skin changes, bone scintigraphy results, HLA-B27, rheumatoid factor (RF), comorbidities and treatment. The patient’s pain due to the disease was assessed using a visual analogue scale (VAS). We also assessed the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI). Results: SAPHO syndrome was more common in women with the mean age at diagnosis 50.0 years. All patients had a negative RF. 25% of 23 assessed patients had a positive HLA B-27 antigen. 88.5% of patients had palmoplantar pustulosis. Swelling and pain of sternoclavicular joints were the most common joint symptoms (present in 96.1 % of patients). Two patients (3.8%) had mandible involvement. Despite hypertension, the most prevalent comorbidities were hypothyroidism (9.8%), diabetes (9.8%) and depression (5.9%). DMARDs and antibiotics were useful in treatment. Conclusions: Mandible involvement is a rare manifestation of SAPHO syndrome. Increased incidence of autoimmune diseases and depression was observed. DMARDs and antibiotics were useful in treatment

Polymorphism of the vitamin D3 receptor gene and bone mineral density in girls with functional hypothalamic amenorrhea subjected to oestroprogestagen treatment

Wstęp: Celem niniejszej pracy było sprawdzenie, czy polimorfizm genu receptora witaminy D3 (VDR) może warunkować odpowiedź na leczenie estroprogestagenami (EP) u pacjentek z brakiem miesiączki typu funkcjonalnego (FHA). Materiał i metody: Badaniem objęto 84 pacjentek z FHA i 50 dziewcząt z grupy kontrolnej. U pacjentek z FHA zastosowano 4-letnią sekwencyjną terapię EP: 17-&#946; estradiol (2 mg, 2.&#8211;25. dzień cyklu) i didrogesteron (10 mg, 16.&#8211;25. dzień cyklu). W trakcie leczenia kontrolowano parametry hormonalne, stężenia markerów obrotu kostnego oraz gęstość mineralną kości (BMD). Ponadto u każdej badanej określono polimorfizm BsmI genu VDR. Wyniki: Leczenie hormonalne zaowocowało istotną poprawą BMD. Jednak wartości BMD stwierdzone po 4 latach terapii u pacjentek z FHA były wciąż znamiennie niższe niż w grupie kontrolnej (odpowiednio 1,007 &#177; 0,100 vs. 1,141 &#177; 0,093 g/cm2; p < 0,001). Nie wykazano znamiennego wpływu genotypu VDR na dynamikę zmian BMD w kolejnych latach terapii hormonalnej oraz średni poziom tego parametru po zakończeniu leczenia (odpowiednio 1,006 &#177; 0,101 vs. 1,013 &#177; 0,114 vs. 1,006 &#177; 0,094 g/cm2 dla genotypów BB, bb i Bb; p = 0,973). Wnioski: Niniejsze badanie nie potwierdziło, by polimorfizm genu VDR wpływał na wyniki leczenia hormonalnego zastosowanego u pacjentek z FHA. Tym niemniej, niniejsze badanie wykazało przydatność terapii EP w jednoczesnym leczeniu zaburzeń miesiączkowania i normalizacji gęstości mineralnej kości u dziewcząt z brakiem miesiączki typu funkcjonalnego. (Endokrynol Pol 2011; 62 (6): 492&#8211;498)Background: We investigated whether the vitamin D3 receptor gene (VDR) polymorphism can modulate therapeutic response of functional hypothalamic amenorrhea (FHA) patients to the oestroprogestagen (EP) treatment. Material and methods: The study included 84 FHA girls and 50 controls. FHA patients underwent a four-year sequential EP therapy with 17-&#946; oestradiol (2 mg from the 2nd to 25th day of the menstrual cycle) and didrogesterone (10 mg from the 16th to the 25th day). Their hormonal parameters were monitored along with bone turnover marker levels and bone mineral density (BMD). Additionally, the VDR gene BsmI polymorphism was determined. Results: Hormonal therapy was reflected by a substantial improvement of BMD. However, the values of BMD observed after four years of treatment in FHA patients were still significantly lower than baseline bone mineral density determined in the control group (1.007 &#177; 0.100 vs. 1.141 &#177; 0.093 g/cm2, respectively; p < 0.001). No significant effects of the VDR genotype were observed on the dynamics of BMD during consecutive years of hormonal treatment and mean bone mineral density determined after completing the therapy (1.006 &#177; 0.101 vs. 1.013 &#177; 0.114 vs. 1.006 &#177; 0.094 g/cm2 for BB, bb and Bb genotypes, respectively; p = 0.973). Conclusions: This study did not confirm that VDR polymorphism can modulate therapeutic outcome of FHA girls subjected to the hormonal treatment. Nonetheless, this study confirmed the effectiveness of EP therapy in the simultaneous treatment of menstrual disorders and the normalisation of bone mineral density in FHA patients. (Pol J Endocrinol 2011; 62 (6): 492&#8211;498

Eating disorders - anorexia as an interdisciplinary problem

Eating disorders are a significant medical and social problem. The most commonly diagnosed eating disorders include anorexia nervosa (AN) and bulimia nervosa, currently classified as behavioral disorders. Anorexia nervosa is a disease consisting in deliberate weight loss and disturbed its image and dysmorphophobia, often coexisting with symptoms of depression and social withdrawal. Understanding the problem of anorexia is not just about food or body mass. Underlying disorders include, among others: emotional problems, the need to define your own identity, a negative image of yourself. AN in women in the general population occurs at a frequency of 0.5-1%, in men 0.05-0.1%, in Poland it ranges from 0.8% -1,8% of the population of girl

Under-age girl as a patient of pediatric and adolescent ginecology outpatient clinic

Badania przeprowadzone w Polsce wykazały, że inicjacja seksualna przed ukończeniem 18. roku życia jest zjawiskiem powszechnym i dotyczy około 80% nastolatków. W Polsce brakuje jednoznacznego stanowiska środowisk medycznych i prawnych wobec procedur postępowania z nieletnią pacjentką, która podjęła współżycie płciowe i oczekuje od lekarza ginekologa porady, badania ginekologicznego i niejednokrotnie prosi o przepisanie tabletek antykoncepcyjnych. Procedury te muszą uwzględniać fakt, że w Polsce do 18. roku życia nieletni funkcjonuje w obszarze władzy rodzicielskiej lub władzy opiekuna prawnego oraz, że zgoda na świadczenie zdrowotne, oprócz zgody opiekuna prawnego, wymaga również zgody nieletniego, który ukończył 16. rok życia i staje się pełnoprawnym pacjentem. Zgodnie z ustawą o zakładach opieki zdrowotnej pacjent ma prawo do samodecydowania o sobie, poszanowania integralności fizycznej i psychicznej oraz do poszanowania prywatności, a udział przedstawiciela ustawowego po 16. roku życia dotyczy w zasadzie współdecydowania o wykonaniu świadczenia zdrowotnego. Tym samym, informacje uzyskane od takiego nieletniego pacjenta w badaniu podmiotowym i przedmiotowym nie muszą być przekazywane przedstawicielowi ustawowemu, jeżeli tajemnicy domaga się nieletni pacjent i jeśli nie ma to wpływu na jego zdrowie oraz planowane procedury medyczne (np. konieczność wykonania operacji). Znajomość procedur postępowania wobec nieletniej pacjentki, jako podmiotu prawa, umożliwi lekarzowi świadomy wybór postępowania oraz udzielenie świadczenia lub tylko w większości przypadków porady, bez konieczności naruszania prawa obowiązującego w Polsce. (Endokrynol Pol 2008; 59 (5): 412-419)The research carried out in Poland reflected that sexual initiation before 18 years of age is a common phenomenon and refers to roughly 80% of teenagers. In Poland there is no uniform standing of medical and legal environments with regard to dealing with a juvenile patient who has become sexually active and expects the advice of a gynaecologist, gynaecologic examination and often asks for prescribing contraceptives. The procedures must take into account the fact that in Poland, until 18 years of age, a juvenile functions under the parental or tutelary authority, while a consent for medical service requires beside of the consent of legal guardian also the consent of a juvenile who is 16 years of age and becomes a full-right patient. According to the Act on Health Care Institutions, a patient has the right to self-decisions, the respect of physical and mental integrity and the respect of privacy, while the participation of a statutory representative post 16th year of age refers practically to co-deciding on a medical service provision. Therefore, the information received from such juvenile patient in subjective and objective examination does not have to be passed to the statutory representative, if the juvenile patient requires confidentiality and if this does not affect the patient&#8217;s health and the planned medical procedures (e.g. the necessity of making an operation). The knowledge of conduct procedures with regard to a juvenile patient as a carrier of rights shall enable doctors to make aware choices of conduct and provide services or, in most cases, only advice, without the necessity to breach the laws of Poland. (Pol J Endocrinol 2008; 59 (5): 412-419