AIMS: The 12-lead electrocardiogram (ECG) is routinely performed in children with hypertrophic cardiomyopathy (HCM). An ECG risk score has been suggested as a useful tool for risk stratification, but this has not been independently validated. This aim of this study was to describe the ECG phenotype of childhood HCM in a large, international, multi-centre cohort and investigate its role in risk prediction for arrhythmic events. METHODS AND RESULTS: Data from 356 childhood HCM patients with a mean age of 10.1 years (±4.5) were collected from a retrospective, multi-centre international cohort. Three hundred and forty-seven (97.5%) patients had ECG abnormalities at baseline, most commonly repolarization abnormalities (n = 277, 77.8%); left ventricular hypertrophy (n = 240, 67.7%); abnormal QRS axis (n = 126, 35.4%); or QT prolongation (n = 131, 36.8%). Over a median follow-up of 3.9 years (interquartile range 2.0-7.7), 25 (7%) had an arrhythmic event, with an overall annual event rate of 1.38 (95% CI 0.93-2.04). No ECG variables were associated with 5-year arrhythmic event on univariable or multivariable analysis. The ECG risk score threshold of >5 had modest discriminatory ability [C-index 0.60 (95% CI 0.484-0.715)], with corresponding negative and positive predictive values of 96.7% and 6.7. CONCLUSION: In a large, international, multi-centre cohort of childhood HCM, ECG abnormalities were common and varied. No ECG characteristic, either in isolation or combined in the previously described ECG risk score, was associated with 5-year sudden cardiac death risk. This suggests that the role of baseline ECG phenotype in improving risk stratification in childhood HCM is limited.

• MeSH
• elektrokardiografie metody   MeSH
• fenotyp MeSH
• hodnocení rizik MeSH
• hypertrofická kardiomyopatie * komplikace   diagnóza   MeSH
• lidé MeSH
• náhlá srdeční smrt * epidemiologie   etiologie   MeSH
• retrospektivní studie MeSH
• rizikové faktory MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

BACKGROUND AND AIMS: Acute hepatic porphyria comprises a group of rare genetic diseases caused by mutations in genes involved in heme biosynthesis. Patients can experience acute neurovisceral attacks, debilitating chronic symptoms, and long-term complications. There is a lack of multinational, prospective data characterizing the disease and current treatment practices in severely affected patients. APPROACH AND RESULTS: EXPLORE is a prospective, multinational, natural history study characterizing disease activity and clinical management in patients with acute hepatic porphyria who experience recurrent attacks. Eligible patients had a confirmed acute hepatic porphyria diagnosis and had experienced ≥3 attacks in the prior 12 months or were receiving prophylactic treatment. A total of 112 patients were enrolled and followed for at least 6 months. In the 12 months before the study, patients reported a median (range) of 6 (0-52) acute attacks, with 52 (46%) patients receiving hemin prophylaxis. Chronic symptoms were reported by 73 (65%) patients, with 52 (46%) patients experiencing these daily. During the study, 98 (88%) patients experienced a total of 483 attacks, 77% of which required treatment at a health care facility and/or hemin administration (median [range] annualized attack rate 2.0 [0.0-37.0]). Elevated levels of hepatic δ-aminolevulinic acid synthase 1 messenger ribonucleic acid levels, δ-aminolevulinic acid, and porphobilinogen compared with the upper limit of normal in healthy individuals were observed at baseline and increased further during attacks. Patients had impaired quality of life and increased health care utilization. CONCLUSIONS: Patients experienced attacks often requiring treatment in a health care facility and/or with hemin, as well as chronic symptoms that adversely influenced day-to-day functioning. In this patient group, the high disease burden and diminished quality of life highlight the need for novel therapies.

• MeSH
• biologické markery moč   MeSH
• dospělí MeSH
• jaterní porfyrie farmakoterapie   patofyziologie   moč   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• porfobilinogensynthasa nedostatek   moč   MeSH
• prospektivní studie MeSH
• recidiva MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• pozorovací studie MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH

AIMS: Pathological evaluation of lymphadenectomy specimens plays a pivotal role in accurate lymph node (LN) staging. Guidelines standardising the gross handling and reporting of pelvic LN dissection (PLND) in prostate (PCa) and bladder (BCa) cancer are currently lacking. This study aimed to establish current practice patterns of PLND evaluation among pathologists. METHODS AND RESULTS: A web-based survey was circulated to all members of the European Network of Uropathology (ENUP), comprising 29 questions focusing on the macroscopic handling, LN enumeration and reporting of PLND in PCa and BCa. Two hundred and eighty responses were received from pathologists throughout 23 countries. Only LNs palpable at grossing were submitted by 58%, while 39% routinely embedded the entire specimen. Average LN yield from PLND was ≥10 LNs in 56% and <10 LNs in 44%. Serial section(s) and immunohistochemistry were routinely performed on LN blocks by 42% and <1% of respondents, respectively. To designate a LN microscopically, 91% required a capsule/subcapsular sinus. In pN+ cases, 72% reported the size of the largest metastatic deposit and 94% reported extranodal extension. Isolated tumour cells were interpreted as pN1 by 77%. Deposits identified in fat without associated lymphoid tissue were reported as tumour deposits (pN0) by 36% and replaced LNs (pN+) by 27%. LNs identified in periprostatic fat were included in the PLND LN count by 69%. CONCLUSION: This study highlights variations in practice with respect to the gross sampling and microscopic evaluation of PLND in urological malignancies. A consensus protocol may provide a framework for more consistent and standardised reporting of PLND specimens.

• MeSH
• chirurgická patologie metody   normy   MeSH
• internet MeSH
• lidé MeSH
• lymfadenektomie * MeSH
• lymfatické metastázy * diagnóza   patologie   MeSH
• nádory močového měchýře * patologie   MeSH
• nádory prostaty * patologie   MeSH
• odběr biologického vzorku metody   normy   MeSH
• průzkumy a dotazníky MeSH
• staging nádorů metody   normy   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

BACKGROUND: Cardiovascular disease is prevalent in children on dialysis and accounts for almost 30% of all deaths. Randomised trials in adults suggest that haemodiafiltration (HDF) with high convection volumes is associated with reduced cardiovascular mortality compared to high-flux haemodialysis (HD); however paediatric data are scarce. We designed the haemodiafiltration, heart and height (3H) study to test the hypothesis that children on HDF have an improved cardiovascular risk profile, growth and nutritional status and quality of life, compared to those on conventional HD. We performed a non-randomised parallel-arm intervention study within the International Paediatric Haemodialysis Network Registry comparing children on HDF and conventional HD to determine annualised change in cardiovascular end-points and growth. Here we present the 3H study design and baseline characteristics of the study population. METHODS: 190 children were screened and 177 (106 on HD and 71 on HDF) recruited from 28 centres in 10 countries. There was no difference in age, underlying diagnosis, comorbidities, previous dialysis therapy, dialysis vintage, residual renal function, type of vascular access or blood flow between HD and HDF groups. High flux dialysers were used in 63% of HD patients and ultra-pure water was available in 52%. HDF patients achieved a median convection volume of 13.3 L/m2; this was associated with the blood flow rate only ((p = 0.0004, r = 0.42) and independent of access type (p = 0.38). DISCUSSION: This is the largest study on dialysis outcomes in children that involves deep phenotyping across a wide range of cardiovascular, anthropometric, nutritional and health-related quality of life measures, to test the hypothesis that HDF leads to improved cardiovascular and growth outcomes compared to conventional HD. TRIAL REGISTRATION: ClinicalTrials.gov: NCT02063776 . The trial was prospectively registered on the 14 Feb 2014.

• MeSH
• chronické selhání ledvin diagnóza   psychologie   terapie   MeSH
• dialýza ledvin metody   psychologie   trendy   MeSH
• dítě MeSH
• hemodiafiltrace metody   psychologie   trendy   MeSH
• kardiovaskulární nemoci diagnóza   prevence a kontrola   psychologie   MeSH
• kvalita života psychologie   MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• předškolní dítě MeSH
• prospektivní studie MeSH
• srdce fyziologie   MeSH
• tělesná výška fyziologie   MeSH
• výsledek terapie MeSH
• vývoj dítěte fyziologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• klinické zkoušky MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH

Transperineal template prostate biopsies (TTPB) are performed for assessments after unexpected negative transrectal ultrasound biopsies (TRUSB), correlation with imaging findings and during active surveillance. The impact of TTPBs on pathology has not been analysed. The European Network of Uropathology (ENUP) distributed a survey on TTPB, including how specimens were received, processed and analysed. Two hundred forty-four replies were received from 22 countries with TTPBs seen by 68.4% of the responders (n = 167). Biopsies were received in more than 12 pots in 35.2%. The number of cores embedded per cassette varied between 1 (39.5%) and 3 or more (39.5%). Three levels were cut in 48.3%, between 2 and 3 serial sections in 57.2% and unstained spare sections in 45.1%. No statistical difference was observed with TRUSB management. The number of positive cores was always reported and the majority gave extent per core (82.3%), per region (67.1%) and greatest involvement per core (69.4%). Total involvement in the whole series and continuous/discontinuous infiltrates were reported in 42.2 and 45.4%, respectively. The majority (79.4%) reported Gleason score in each site or core, and 59.6% gave an overall score. A minority (28.5%) provided a map or a diagram. For 19%, TTPB had adversely affected laboratory workload with only 27% managing to negotiate extra costs. Most laboratories process samples thoroughly and report TTPB similarly to TRUSB. Although TTPB have caused considerable extra work, it remains uncosted in most centres. Guidance is needed for workload impact and minimum standards of processing if TTPB work continues to increase.

• MeSH
• biopsie metody   MeSH
• internet MeSH
• lidé MeSH
• nádory prostaty diagnóza   MeSH
• odběr biologického vzorku metody   MeSH
• průzkumy a dotazníky MeSH
• výzkumný projekt MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH