Relacja z wizyty studyjnej Sieci uczących się szkół w Słowenii

Artykuł z numeru 4/2012 internetowego czasopisma edukacyjnego ORE "Trendy

Mutations in the von Hippel-Lindau Tumour Suppressor Gene in Central Nervous System Hemangioblastomas

Central nervous system hemangioblastomas (cHAB) are rare tumours which most commonly arise in the cerebellum. Most tumours are sporadic, but as many as one third of cHABs occur in the course of the hereditary disorder - von Hippel-Lindau disease (VHL). In order to diagnose new VHL families in Poland we performed sequencing of the entire VHL gene in archival material (paraffin embedded hemangioblastoma tissues) in a large series of 203 unselected patients with cHAB. VHL gene mutations were detected in 70 (41%) of 171 tumour samples from which DNA of relatively good quality was isolated. We were able to obtain blood samples from 19 of mutation positive cases. Eight (42%) of these harboured germline mutations in persons from distinct undiagnosed VHL families

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

Zastosowanie preparatu sulodeksydu w leczeniu zaburzeń mikrokrążenia obwodowego u pacjentów z twardziną układową.

Scleroderma (systemic sclerosis, scleroderma) is a chronic, progressive autoimmune disease characterized by damage to blood vessels, the presence of autoantibodies, progressive hardening, atrophy of the skin and subcutaneous tissue and damage to many internal organs. In scleroderma we observe peripheral microcirculation disorders, in which small peripheral vascular abnormalities play an important role. Raynaud’s phenomenon is the most common manifestation of peripheral microcirculation disorders in the course of systemic sclerosis and concerns mainly the fingers. Treatment of patients with systemic sclerosis should be comprehensive and include education of patients, use of medication and rehabilitation. Drugs of first choice for the treatment of peripheral microcirculation disorders include calcium channel blockers, phosphodiesterase inhibitors, and prostaglandins. From our clinical experience gained in the treatment of microvascular disorders, sulodexide [a mixture of heparin (80%) and dermatan sulfate (20%)] seems to be a good and safe drug worth recommending. It works as an anticoagulant, pro-fibrinolytic, anti-inflammatory, inhibits the fibrosis process, and has protective effects on the vascular endothelial cells. Sulodexide is a safe rheological drug successfully used to treat a number of diseases accompanied by microcirculation disorders, including scleroderma.Twardzina układowa (systemic sclerosis, scleroderma) jest przewlekłą, postępującą chorobą autoimmunologiczną charakteryzującą się uszkodzeniem naczyń krwionośnych, obecnością autoprzeciwciał oraz postępującym stwardnieniem i zanikiem skóry, tkanki podskórnej oraz uszkodzeniem wielu narządów wewnętrznych. W twardzinie układowej obserwujemy zaburzenia mikrokrążenia obwodowego, w których znaczącą rolę odgrywają nieprawidłowości drobnych naczyń obwodowych. Objaw Raynaud jest najczęstszą manifestacją zaburzeń mikrokrążenia obwodowego w przebiegu twardziny układowej i dotyczy głównie palców rąk. Leczenie chorych z twardziną układową powinno mieć charakter kompleksowy i obejmować: edukację pacjenta, leczenie farmakologiczne oraz rehabilitację. Lekami stosowanymi w leczeniu zaburzeń mikrokrążenia obwodowego są m.in. blokery kanału wapniowego, inhibitory fosfodiesterazy oraz prostaglandyny. Wysoką skutecznością w leczeniu zaburzeń mikrokrążenia charakteryzuje się sulodeksyd, który jest mieszaniną heparyny (80%) i siarczanu dermatanu (20%). Działa on przeciwzakrzepowo, profibrynolityczne, przeciwzapalne, hamuje procesy włóknienia oraz działa protekcyjne w odniesieniu do komórek śródbłonka naczyniowego. Sulodeksyd jest bezpiecznym lekiem reologicznym, z powodzeniem stosowanym w leczeniu wielu chorób przebiegających z zaburzeniami mikrokrążenia, w tym twardziny układowej

Risk for Recurrence in Long-Term Follow-Up of Children after Liver Transplantation for Hepatoblastoma or Hepatocellular Carcinoma

The aim of this study was to assess the long-term results of liver transplantation (LT) in pediatric patients with unresectable hepatoblastoma (HB) or hepatocellular carcinoma (HCC) with special reference to the risk of tumor recurrence. We retrospectively analyzed data from 46 HB and 26 HCC patients who underwent LT between 1990 and 2022. In HCC patients, we compared outcomes depending on donor type. We evaluated the impact of a number of risk factors on recurrence-free survival after LT. Estimated patient survival after 5, 10, and 15 years was 82%, 73%, and 73% in the HB group and 79%, 75%, and 75% in the HCC group, respectively (p = 0.76). In the HCC group, living donor LT (LDLT) and deceased donor LT (DDLT) provided similar patient survival (p = 0.09). Estimated recurrence-free survival in patients who had three or fewer risk factors was significantly better than in patients with more than three risk factors (p = 0.0001). Adequate patient selection is necessary when considering LT for primary liver tumors in children. The presence of more than three risk factors is associated with a very high risk of recurrence and indicates poor prognosis, whereas extrahepatic disease may be considered a contraindication for transplantation