The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

sPlot - A new tool for global vegetation analyses

Dengler, Jurgen/0000-0003-3221-660X; Chytry, Milan/0000-0002-8122-3075; de Gasper, Andre Luis/0000-0002-1940-9581; Marceno, Corrado/0000-0003-4361-5200; Swacha, Grzegorz/0000-0002-6380-2954; He, Tianhua/0000-0002-0924-3637; Haider, Sylvia/0000-0002-2966-0534; Kuhn, Ingolf/0000-0003-1691-8249; Svenning, Jens-Christian/0000-0002-3415-0862; Jansen, Florian/0000-0002-0331-5185; Casella, Laura/0000-0003-2550-3010; Schmidt, Marco/0000-0001-6087-6117; Chepinoga, Victor/0000-0003-3809-7453; Petrik, Petr/0000-0001-8518-6737; Willner, Wolfgang/0000-0003-1591-8386; Jansen, Steven/0000-0002-4476-5334; De Sanctis, Michele/0000-0002-7280-6199; Niinemets, Ulo/0000-0002-3078-2192; Pauchard, Anibal/0000-0003-1284-3163; Vibrans, Alexander C./0000-0002-8789-5833; Biurrun, Idoia/0000-0002-1454-0433; De Patta Pillar, Valerio/0000-0001-6408-2891; Phillips, Oliver L/0000-0002-8993-6168; Sibik, Jozef/0000-0002-5949-862X; Lenoir, Jonathan/0000-0003-0638-9582; Venanzoni, Roberto/0000-0002-7768-0468; Gutierrez, Alvaro G./0000-0001-8928-3198; Cayuela, Luis/0000-0003-3562-2662; Nobis, Marcin/0000-0002-1594-2418; Agrillo, Emiliano/0000-0003-2346-8346; Manning, Peter/0000-0002-7940-2023; Venanzoni, Roberto/0000-0002-7768-0468; Virtanen, Risto/0000-0002-8295-8217; Higuchi, Pedro/0000-0002-3855-555X; Sopotlieva, Desislava/0000-0002-9281-7039; Kuzemko, Anna/0000-0002-9425-2756; Hatim, Mohamed/0000-0002-0872-5108; Mencuccini, Maurizio/0000-0003-0840-1477; Enquist, Brian J./0000-0002-6124-7096; De Bie, Els/0000-0001-7679-743X; Samimi, Cyrus/0000-0001-7001-7893; Nowak, Arkadiusz/0000-0001-8638-0208; Jimenez-Alfaro, Borja/0000-0001-6601-9597; Font, Xavier/0000-0002-7253-8905; Levesley, Aurora/0000-0002-7999-5519; Acic, Svetlana/0000-0001-6553-3797; Kattge, Jens/0000-0002-1022-8469; Silc, Urban/0000-0002-3052-699X; Arnst, Elise/0000-0003-2388-7428; Moretti, Marco/0000-0002-5845-3198; Kozub, Lukasz/0000-0002-6591-8045; Kacki, Zygmunt/0000-0002-2241-1631; Fagundez, Jaime/0000-0001-6605-7278; Purschke, Oliver/0000-0003-0444-0882; Martynenko, Vasiliy/0000-0002-9071-3789; Jandt, Ute/0000-0002-3177-3669; Peyre, Gwendolyn/0000-0002-1977-7181; SABATINI, FRANCESCO MARIA/0000-0002-7202-7697; Bruelheide, Helge/0000-0003-3135-0356; Wohlgemuth, Thomas/0000-0002-4623-0894; Onyshchenko, Viktor/0000-0001-9079-7241; Kuzmic, Filip/0000-0002-3894-7115; Ejrnaes, Rasmus/0000-0003-2538-8606; Jirousek, Martin/0000-0002-4293-478X; Noroozi, Jalil/0000-0003-4124-2359; Curran, Michael/0000-0002-1858-5612; Baraloto, Christopher/0000-0001-7322-8581; Ozinga, Wim/0000-0002-6369-7859WOS: 000466421500001Aims Vegetation-plot records provide information on the presence and cover or abundance of plants co-occurring in the same community. Vegetation-plot data are spread across research groups, environmental agencies and biodiversity research centers and, thus, are rarely accessible at continental or global scales. Here we present the sPlot database, which collates vegetation plots worldwide to allow for the exploration of global patterns in taxonomic, functional and phylogenetic diversity at the plant community level. Results sPlot version 2.1 contains records from 1,121,244 vegetation plots, which comprise 23,586,216 records of plant species and their relative cover or abundance in plots collected worldwide between 1885 and 2015. We complemented the information for each plot by retrieving climate and soil conditions and the biogeographic context (e.g., biomes) from external sources, and by calculating community-weighted means and variances of traits using gap-filled data from the global plant trait database TRY. Moreover, we created a phylogenetic tree for 50,167 out of the 54,519 species identified in the plots. We present the first maps of global patterns of community richness and community-weighted means of key traits. Conclusions The availability of vegetation plot data in sPlot offers new avenues for vegetation analysis at the global scale.German Research FoundationGerman Research Foundation (DFG) [DFG FZT 118]; TRY initiative on plant traitsWe are grateful to thousands of vegetation scientists who sampled vegetation plots in the field or digitized them into regional, national or international databases. We also appreciate the support of the German Research Foundation for funding sPlot as one of the iDiv (DFG FZT 118) research platforms, and the organization of three workshops through the sDiv calls. We acknowledge this support with naming the database "sPlot", where the "s" refers to the sDiv synthesis workshops. The study was supported by the TRY initiative on plant traits (http://www.try-db.org). For all further acknowledgements see Appendix S10. We thank Meelis Partel for his very fast and constructive feedback on an earlier version of this manuscript