DecodeME: community recruitment for a large genetics study of myalgic encephalomyelitis / chronic fatigue syndrome.

BACKGROUND: Myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) is a common, long-term condition characterised by post-exertional malaise, often with fatigue that is not significantly relieved by rest. ME/CFS has no confirmed diagnostic test or effective treatment and we lack knowledge of its causes. Identification of genes and cellular processes whose disruption adds to ME/CFS risk is a necessary first step towards development of effective therapy. METHODS: Here we describe DecodeME, an ongoing study co-produced by people with lived experience of ME/CFS and scientists. Together we designed the study and obtained funding and are now recruiting up to 25,000 people in the UK with a clinical diagnosis of ME/CFS. Those eligible for the study are at least 16 years old, pass international study criteria, and lack any alternative diagnoses that can result in chronic fatigue. These will include 5,000 people whose ME/CFS diagnosis was a consequence of SARS-CoV-2 infection. Questionnaires are completed online or on paper. Participants' saliva DNA samples are acquired by post, which improves participation by more severely-affected individuals. Digital marketing and social media approaches resulted in 29,000 people with ME/CFS in the UK pre-registering their interest in participating. We will perform a genome-wide association study, comparing participants' genotypes with those from UK Biobank as controls. This should generate hypotheses regarding the genes, mechanisms and cell types contributing to ME/CFS disease aetiology. DISCUSSION: The DecodeME study has been reviewed and given a favourable opinion by the North West - Liverpool Central Research Ethics Committee (21/NW/0169). Relevant documents will be available online ( www.decodeme.org.uk ). Genetic data will be disseminated as associated variants and genomic intervals, and as summary statistics. Results will be reported on the DecodeME website and via open access publications.

Metallothionein expression and infiltration of cytotoxic lymphocytes in uterine and tubal implantation sites.

INTRODUCTION: In spite of increasing number of immune cells in the endometrium during the decidualization, the integrity of endometrial tissue in each menstrual cycle is maintained by adaptive changes in expression of several factors that regulate activity of immune cells and concomitant hormonal alterations during the menstrual cycle. This regulatory function of endometrium is also related to resistance to apoptosis, in which metallothionein (MT) may play a role. MATERIALS AND METHODS: Study group included 26 women with spontaneous abortion and 18 patients with tubal ectopic pregnancy. Control group included 17 women whose endometrial tissue samples were taken during the normal secretory cycle phase. Expression of metallothionein (MT), CD56 and CD69 were assessed in tissue samples by immunohistochemistry. RESULTS: The number of CD56-positive cells was significantly higher in women with ruptured than unruptured ectopics. MT expression was higher in tubal mucosa distant from the implantation site in ruptured compared to unruptured ectopics. It was found also to be significantly lower than in decidua taken from women with spontaneous abortion. CD69 expression was similar in women with spontaneous abortion as well as patients with ruptured ectopics compared to the control group. On the other hand, CD69 expression in unruptured ectopics was significantly lower than in women with spontaneous abortion and the control group. CONCLUSION: The concentration of immune cells and increase of their activity in tubal mucosa, with insufficient protection against immune-mediated apoptosis assessed by MT expression, might result in tubal rupture during ectopic pregnancy.

[Laparoscopic management during pregnancy--own material (1996-2002)]. / Analiza postepowania laparoskopowego w ciazy na materiale wlasnym w latach od 1996 do 2002.

OBJECTIVE: Utility of laparoscopic procedures in pregnant women. Is laparoscopy safe for the foetus? MATERIAL AND METHODS: Between 1996 an 2002 14 pregnant patients were admitted and laparoscopy was performed. RESULTS: In 10 cases laparoscopic cyst enucleation (6 simplex, 1 endometrial, 3 dermoidal), in 1 case myomectomy and in 2 adnexectomy was performed. There were no complications during surgery. In one case miscarriage occurred 3 weeks after laparoscopic surgery and 9 healthy babies were delivered. DISCUSSION: There is no doubt that laparoscopy is well accepted in gynecological surgery and is going to be more and more accepted in obstetrics. Due to several differences between non-pregnant and pregnant women laparoscopic procedures in pregnancy require special attention. All papers show good foetal outcome even with preterm labour. In our material all babies were born healthy. CONCLUSIONS: Laparoscopic procedures during pregnancy are feasible and safe. Nevertheless they have to be performed by experienced gynecological-surgical teams.

[Pregnancy duration and mode of delivery in patients with cardiac insufficiency on the material of Jagiellonian University OB/GYN Clinic in the years between 1986-1999]. / Czas trwania ciazy i sposób rozwiazania w grupie pacjentek z wadami serca w materiale Kliniki Ginekologii i Poloznictwa Colegium Medicum Uniwersytetu Jagiellonskiego.

OBJECTIVES: Recent progress in cardiology and cardiac surgery lead many patients with cardiac disease in the procreative age. DESIGN: To asses the influence of cardiac disease on pregnancy and delivery. MATERIAL AND METHODS: 232 subjects with congenital and acquired cardiac anomalies, hospitalized in the Jagiellonian University OB/GYN Clinic between 1986-1999. Patients were divided according to NYHA classification depending on kind and grade of cardiovascular insufficiency. Acquired data were compared with data in the control group consisted of 424 subjects without any complications during pregnancy and delivery. RESULTS: We proved shortening of the pregnancy duration in more advanced NYHA classes. Percentage shave of preterm deliveries in 3rd and 4th class was 31.15%, what equals to 3 times preterm delivery rate in the control group. Preterm delivery rate in groups of NYHA I and II was similar to the rate in the control group. Acquired data reveal extremely high cesarean section rate in the material of patients with cardiac anomalies. Cesarean section rate in the group of NYHA I and II was 3 times higher (30%) than in control group (rate of 10%). NYHA III and IV groups has a cesarean section rate of 93%. Vaginal delivery rate in the NYHA I and II groups equals to 58.5%, what is 10 times higher than in NYHA III and IV groups (equals to 6.6%). CONCLUSIONS: 1. Pregnancy duration depends on cardiovascular sufficiency and is significantly shorten in NYHA III and IV groups. 2. Extremely high cesarean section rate in the analyzed group is due to decreased cardiac sufficiency.

[Management of analysis in case of ectopic pregnancy--own material]. / Analiza postepowania diagnostyczno-terapeutycznego w przypadku ciazy ektopowej w materiale wlasnym.

INTRODUCTION: Apart from increasing frequency of ectopic pregnancy occurrence during recent years there is still a need to diagnose and treat these pathology as early as possible. Delay in diagnosing subsequently cause severe threat to patients life. Recognition improvement means equally decrease in mortality connected to ectopic pregnancy. AIM: The aim of the study was diagnosis and treatment efficiency evaluation in cases of ectopic pregnancy. MATERIAL AND METHODS: In this paper 68 cases of women hospitalised between May 1999 and September 2002 in our Clinic with suspicion of ectopic pregnancy were analysed. Diagnostic procedures included clinical examination, biochemical assessment of beta HCG level, sonography and diagnostic laparoscopy. Therapeutic management included salpingotomy with evacuation of gestational sac, salpingectomy and uterine cornu excision. RESULTS: In 11 cases the presence of pregnancy was excluded according to non-invasive diagnostics. Laparotomy was performed in two cases. Laparoscopy was performed in 50 cases what equals to 73% of all subjects. Laparoscopy was negative in 7 cases. Misdiagnosis resulted from pathologies in adnexal area. The most frequent ectopic pregnancy localisation was oviduct, one case of cervical and one intramural localisation was diagnosed. In one case two salpingostomies were performed in two years apart period. CONCLUSIONS: Complex diagnostic management is the only diagnostic way in case of ectopic pregnancy. Any confusion should be solved by immediate invasive diagnostics. In our opinion the most efficient method in ectopic pregnancy diagnosing and treatment is early laparoscopy.