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Germline SAMD9 and SAMD9L mutations (SAMD9/9L(mut)) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9L(mut) accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9L(mut) cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9L(mut) clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9L(mut) suppressed HEK293 cell growth, and mutations expressed in CD34(+) cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9L(mut) patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9L(mut)). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9L(mut) MDS and exemplify the exceptional plasticity of hematopoiesis in children.

Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as the most common cause underlying primary MDS in children. Triggered by the discovery of a recurrent synonymous GATA2 variant, we systematically investigated 911 patients with phenotype of pediatric MDS or cellular deficiencies for the presence of synonymous alterations in GATA2. In total, we identified nine individuals with five heterozygous synonymous mutations: c.351C>G, p.T117T (N = 4); c.649C>T, p.L217L; c.981G>A, p.G327G; c.1023C>T, p.A341A; and c.1416G>A, p.P472P (N = 2). They accounted for 8.2% (9/110) of cases with GATA2 deficiency in our cohort and resulted in selective loss of mutant RNA. While for the hotspot mutation (c.351C>G) a splicing error leading to RNA and protein reduction was identified, severe, likely late stage RNA loss without splicing disruption was found for other mutations. Finally, the synonymous mutations did not alter protein function or stability. In summary, synonymous GATA2 substitutions are a new common cause of GATA2 deficiency. These findings have broad implications for genetic counseling and pathogenic variant discovery in Mendelian disorders.

INTRODUCTION Nephroblastoma (Wilms tumor - WT) is the most common solid tumor of kidney in children. We present treatment development of WT at the Department of Pediatric Hematology and Oncology, Charles University in Prague, 2nd Faculty of Medicine and University Hospital Motol (KDHO) in the Czech Republic over 30 years. Patients that were treated prior to access to the International Society of Pediatric Oncology (SIOP) protocols are considered to be the historical group, then we have patients treated according to SIOP 9, SIOP 93-01 and SIOP 2001 protocols as full participants of SIOP studies. PATIENTS AND METHODS Between January 1980 and April 2009, we treated 330 patients with WT at KDHO: 91 patients in historical group (1980-1988), 94 pts in SIOP 9 (1988-1993), 80 pts in SIOP 93-01 (1994-2001) and 65 pts in SIOP 2001 (2002-2009). Overall survival (OS) and event-free survival (EFS) were analyzed by Kaplan-Meier test. RESULTS The overall ten-year EFS was 81.2% and OS 87.6%. Fifty-eight patients from the 330 (17.6%) had metastases at diagnosis, EFS without metastatic process was 84.6% compared to 65.4% with metastasis presented at diagnosis (p = 0.0003), OS was 70.7% compared to 91.2% (p < 0.0001). One hundred and seventy patients (51.5%) were treated with preoperative chemotherapy and/or radiotherapy, whereas 158 patients (47.5%) underwent primary nephrectomy; EFS and OS did not differ: neoadjuvant vs primary nephrectomy EFS was 81.2% vs 80.9% (p = 0.85), OS 89.4% vs 85.4% (p = 0.38). Sixty (18%) patients experienced disease recurrence; OS after relapse was 33%. In the historical group, EFS and OS were 85.7% and 91.2%. In patients treated according to the SIOP 9 protocol, EFS and OS were 68.1% and 74.5%, resp. In patients treated according to SIOP 93-01, it was 83.6% and 93.7%, resp. and in patients treated according to 87 SIOP 2001, it was 7% and 95.4% (p = 0.001 and p = 0.0008), resp. CONCLUSION WT is a well treatable disease. The aim for the future is to maintain the current very good survival while minimizing the treatment intensity.

Euphthiracarus (Euphthiracarus) paranetron n. sp. (Figures 2) Description Measurements of holotype — Prodorsum: length 218, width 149, height 94; prodorsal setae: sensillus (ss) 68, interlamellar (in) and rostral (ro) 91, lamellar (le) 76, exobothridial (ex) 29; notogaster: length 414, width 262, height 257; notogastral setae: c 1 56, c 1 / 1 - d 1 =0.5, h 1 and ps 1 53; genitoaggenital region 132 × 53; anoadanal region 202 × 43. Medium-sized species. Colour yellow. Surface of body reticulate. Prodorsum — with two pairs of parallel lateral carinae. Sensilli (ss) rather long, with elongated, rough, spindle-shaped head. Prodorsal setae long, erect, attenuate; relative lengths of prodorsal setae in = ro > le > ss > ex. Notogaster — with relatively short (c 1 1 - d 1), rigid notogastral setae covered sparcely with spines; notogastral setae c 1-3 remote from anterior margin, setae c 1 and c 2 further removed than c 3. Ventral region — Setae h of subcapitular mentum longer than distance between them. Nine pairs of genital setae with formula 8: 1, two pairs of rather long aggenital setae. Anal setae an 1 and an 2 shorter, slender and thinner than adanal setae ad 1 and ad 2. Lyrifissures iad situated between adanal setae ad 2 and anal setae an 3. Legs — Chaetome of legs without tarsi: I: 1-3- 5 (2)-5(1), II: 1-3-2(1)-4(1), III: 2-2-2(1)-2(1), IV: 2-1- 1(1)-2(1), all tarsi monodactylous. Material examined — Holotype is deposited at DATE from locus typicus: North Madagascar, Montagne d’Ambre National Park, circuit Ampijoroana, 7. I. 2015, evergreen rain forest, latitude 12°31’28" S, longitude 49°09’52" E, altitude 950 m, sifted forest leaf litter sample under Pandanus sp. tree, Winkler apparatus extraction, leg. P. Ba &caron;na&caron;r and E. M. Rabotoson. Etymology — The prefix para is Latin meaning "near" and refers to the similarity the of the new species with the species Euphthiracarus netron Niedba&lstrok;a et Starý, 2014. Comparison — The new species is distinguishable from the similar E. netron Niedba&lstrok;a et Starý, 2014 by the reticulation of body surface (versus punctuation of surface), presence of two pairs of lateral carinae of prodorsum (versus one pair), slightly different shape of sensilli, with head like elongated spindle (versus short spindle), longer exobothridial setae ex, longer than distance between setae le and ro (versus shorter than le -ro), longer setae h of mentum than distance between them (versus setae h shorter), arrangement of genital setae: 8: 1 (versus arrangement 7: 2) (Niedba&lstrok;a and Starý 2014b)., Published as part of Niedbała, W. & Starý, J., 2016, Six new species of ptyctimous mites (Acari: Oribatida) from Madagascar, pp. 485-496 in Acarologia 56 (4) on pages 486-489, DOI: 10.1051/acarologia/20164134, http://zenodo.org/record/5402188, {"references":["Niedbala W., Stary J. 2014 b - New species of Euphthiracarus Ewing, 1917 (Acari: Oribatida: Euphthiracaroidea) from the Afrotropical Region - Annales Zoologici, 64 (3): 485 - 493."]}

Notophthiracarus medius n. sp. (Figures 5) Description Measurements of holotype — Prodorsum: length 232, width 162, height 86; length of prodorsal setae: sensillus (ss) 114, interlamellar (in) 116, lamellar (le) 15, rostral (ro) 48, exobothridial (ex) 18; notogaster: length 460, width 323, height 288; notogastral setae: c 1 109, c 1 / c 1 -d 1 =0.8, h 1 106, ps 1 96; genitoaggenital plate 114 × 86, anoadanal plate 185 × 96. Measurement of paratype — Prodorsum: length 187, height 76; notogaster: length 359, height 202. Species of medium size. Body colour brown. Prodorsum — Surface of prodorsum reticulate but in posterior part with small irregular alveoles connected with weak lines. Lateral carinae distinct and long. Sigillar fields poorly marked, median longer than laterals. Sensilli (ss) long, bacilliform, without head, curved, covered with small spines, similar in shape to notogastral setae. Interlamellar setae (in) robust, erect, covered with distinct spines in distal half, similar to notogastral setae. Lamellar setae (le) thick, short, rostral setae (ro) spiniform, rough; relative length of prodorsal setae: in > ss > ro > ex > le. Notogaster — Surface of notogaster covered with small alveoles connected with weak lines, resembling reticulation. Notogastral setae robust, bacilliform of medium length (c 1 < c 1 -d 1), their distal half covered with small spines. Notogastral setae c 1 and c 3 situated close to anterior margin of notogaster, setae c 2 remote far from this margin. Vestigial notogastral setae f 1 not visible, vestigial setae f 2 and two pairs of lyrifissures ia and im present but hardly perceptible. Ventral region — Setae h of subcapitular mentum shorter than distance between them. Surface of genitoaggenital and anoadanal plates reticulated. Formula of minute genital setae: 5: 4. Anoadanal plates each with 5 pairs of setae, two pairs of anal setae thinner and three pairs of adanal setae thicker, adanal setae ad 1 and ad 2 longest. Legs — Setation of complete type. Setae d on femora I bifurcate and situated at distal end of article. Material examined — Holotype is deposited at DATE from locus typicus: Central Madagascar, Andasibe – Mantadia National Park, Mantadia, circuit Rianasoa, path to Chute sacreØ, 29. I. 2015, evergreen rain forest, latitude 18°50’07" S, longitude 48°26’22" E, altitude about 1000 m, sifted sample of leaf litter, Winkler apparatus extraction, leg. P. Ba &caron;na&caron;r and E. M. Rabotoson, and one paratype is deposited at ISB from the same locality. Etymology — The specific name of the new species medius is Latin for "intermediate", "between" and refers to the similarity of the new species to two Notophthiracarus species N. lineatus Niedba&lstrok;a et Starý, 2015 and N. reticulatus Niedba&lstrok;a et Starý, 2014. Comparison — The new species is similar to N. lineatus in the shape of the notogastral surface, which is covered by small foveolae connected with weak lines. It is also similar to N. reticulatus in the overall image of reticulation on the surface of notogaster.. New species is distinguishable from N. lineatus by baciliform shape of sensilli (versus dilated distally), longer adanal setae ad 3 (versus minute adanal setae) and bifurcated setae d of femora I (versus not bifurcate). The new species is distinguishable from N. reticulatus also by bacilliform sensilli (versus dilated head of sensilli), erect interlamellar setae (in) and minute lamellar setae (le) shorter than rostral setae (ro), (versus almost procumbent interlamellar setae (in) and lamellar setae (le) longer than rostral (ro) ones, by setae h of mentum shorter than distance of their insertion points h < h -h (versus longer setae that distance of their insertions, h > h - h; by adanal setae ad 2 of anoadanal plates, which are remote from paraxial margin of plates (versus location of adanal setae ad 2 near paraxial margin). (Niedba&lstrok;a and Starý 2014c, 2015b)., Published as part of Niedbała, W. & Starý, J., 2016, Six new species of ptyctimous mites (Acari: Oribatida) from Madagascar, pp. 485-496 in Acarologia 56 (4) on pages 491-494, DOI: 10.1051/acarologia/20164134, http://zenodo.org/record/5402188, {"references":["Niedbala W., Stary J. 2014 c - New species of Notophthiracarus (Acari: Oribatida: Phthiracaroidea) from Madagascar - Annales Zoologici, 64 (1): 79 - 86.","Niedbala W., Stary J. 2015 b - The next new species of Notophthiracarus Ramsay, 1966 (Acari, Oribatida, Phthiracaroidea) from Madagascar - African Invertebrates, 56 (1): 63 - 73."]}

Euphthiracarus (Euphthiracarus) paranetron n. sp. (Figures 2) Description Measurements of holotype — Prodorsum: length 218, width 149, height 94; prodorsal setae: sensillus (ss) 68, interlamellar (in) and rostral (ro) 91, lamellar (le) 76, exobothridial (ex) 29; notogaster: length 414, width 262, height 257; notogastral setae: c 1 56, c 1 / 1 - d 1 =0.5, h 1 and ps 1 53; genitoaggenital region 132 × 53; anoadanal region 202 × 43. Medium-sized species. Colour yellow. Surface of body reticulate. Prodorsum — with two pairs of parallel lateral carinae. Sensilli (ss) rather long, with elongated, rough, spindle-shaped head. Prodorsal setae long, erect, attenuate; relative lengths of prodorsal setae in = ro > le > ss > ex. Notogaster — with relatively short (c 1 1 - d 1), rigid notogastral setae covered sparcely with spines; notogastral setae c 1-3 remote from anterior margin, setae c 1 and c 2 further removed than c 3. Ventral region — Setae h of subcapitular mentum longer than distance between them. Nine pairs of genital setae with formula 8: 1, two pairs of rather long aggenital setae. Anal setae an 1 and an 2 shorter, slender and thinner than adanal setae ad 1 and ad 2. Lyrifissures iad situated between adanal setae ad 2 and anal setae an 3. Legs — Chaetome of legs without tarsi: I: 1-3- 5 (2)-5(1), II: 1-3-2(1)-4(1), III: 2-2-2(1)-2(1), IV: 2-1- 1(1)-2(1), all tarsi monodactylous. Material examined — Holotype is deposited at DATE from locus typicus: North Madagascar, Montagne d’Ambre National Park, circuit Ampijoroana, 7. I. 2015, evergreen rain forest, latitude 12°31’28" S, longitude 49°09’52" E, altitude 950 m, sifted forest leaf litter sample under Pandanus sp. tree, Winkler apparatus extraction, leg. P. Ba &caron;na&caron;r and E. M. Rabotoson. Etymology — The prefix para is Latin meaning "near" and refers to the similarity the of the new species with the species Euphthiracarus netron Niedba&lstrok;a et Starý, 2014. Comparison — The new species is distinguishable from the similar E. netron Niedba&lstrok;a et Starý, 2014 by the reticulation of body surface (versus punctuation of surface), presence of two pairs of lateral carinae of prodorsum (versus one pair), slightly different shape of sensilli, with head like elongated spindle (versus short spindle), longer exobothridial setae ex, longer than distance between setae le and ro (versus shorter than le -ro), longer setae h of mentum than distance between them (versus setae h shorter), arrangement of genital setae: 8: 1 (versus arrangement 7: 2) (Niedba&lstrok;a and Starý 2014b).

Phthiracarus ranomafanensis n. sp. (Figures 4) Description Measurements of holotype: Prodorsum: length 364, width 273, height 136; prodorsal setae: sensillus (ss) 45, interlamellar (in) 94, lamellar (le) 53, rostral (ro) 76, exobothridial (ex) 43; notogaster: length 515, width 454, height 485; notogastral setae: c 1 61, c 1 / c 1 - d 1 =0.4, h 1 and ps 1 30; genitoaggenital plate 151 × 126, anoadanal plate 227 × 111. Medium-sized species; colour light brown. Prodorsum — with distinct sigillar fields. Lateral carinae absent. Sensilli (ss) short, club-shaped with rounded head. Other prodorsal setae fine, attenuate, in > ro > le > ex, rostral setae (ro) procumbent. Notogaster — with 15 pairs of fine, attenuate and very short notogastral setae, setae c 1 shorter than half of distance between setae c 1 - d 1. Setae c 1 and c 2 remote from anterior margin of notogaster, setae c 3 situated near this margin. Vestigial setae f 1 located anterior of h 1 setae (left side of holotype) or at the level of h 1 setae (right side of holotype). Four pairs of lyrifissures ia, im, ip and im present. Ventral region — Setae h of subcapitular mentum slightly longer than distance between them. Formula of genital setae 4: 5. Anoadanal plates with 5 pairs of very short setae, adanal setae ad 1 the longest. Adanal setae situated near paraxial border of plates, adanal setae ad 1 at the level of anal setae an 1 and adanal setae ad 2 at the level of anal setae a n 2. Legs — Chaetome of legs of "complete type "; setae d of femora I long, robust and slightly remote from distal end of article. Material examined — Holotype is deposited at DATE from locus typicus: Madagascar, Ranomafana National Park, 15. IV. 2011, secondary forest, latitude 21°13’03.6" S, longitude 47°22’02.9" E, altitude 1198 m, Amboditanimena village environs, sifted sample of forest litter, Winkler apparatus extraction, leg. P. Ba &caron;na&caron;r and R. Raveloson. Etymology — This new species is named after Ranomafana National Park. Comparison — The new species has the arrangement of genital setae similar to that of some South African species of the genus Phthiracarus such as P. densus Niedba&lstrok;a, 2006, P. endroedii (Mahunka, 1984) (Niedba&lstrok;a 2006). It is easily distinguishable from its congeners by the unusual arrangement of adanal setae situated near paraxial borders, adanal setae ad 1 and ad 2 at the level of anal setae an 1 and an 2, very short and fine notogastral setae, and by the presence of four pairs of notogastral lyrifissures., Published as part of Niedbała, W. & Starý, J., 2016, Six new species of ptyctimous mites (Acari: Oribatida) from Madagascar, pp. 485-496 in Acarologia 56 (4) on page 491, DOI: 10.1051/acarologia/20164134, http://zenodo.org/record/5402188, {"references":["Niedbala W. 2006. - Ptyctimous mites (Acari: Oribatida) of South Africa - Annales Zoologici, 56 (Supplement 1): 1 - 97."]}

Atropacarus (Hoplophorella) parastenos n. sp. (Figures 6) Description Measurements of holotype — Prodorsum: length 190, width 139, height 71; length of prodorsal setae: sensillus (ss) 35, interlamellar (in) and exobothridial (ex) 18, lamellar (le)13, rostral (ro) 20; notogaster: length 374, width 227, height 222; length of notogastral setae: c 1 71, c 1 / c 1 - d 1 =0.8, h 1 94, ps 1 83; genitoaggenital plate 114 × 71, anoadanal plate 104 × 63. Species of rather small size; colour yellow; surface of body covered with deep rounded foveoles, in anterior part of notogaster with irregular margin. Prodorsum — with small median crista. Lateral carinae short, posterior furrows distinct. Sigillar fields feeble, median ones narrow and longer than laterals. Sensilli (ss) rather short, with narrow pedicel and club-shaped, distally rounded head covered with small cilia. Other prodorsal setae minute, needleform, similar in length, ss > ro > in = ex > le. Notogaster — with needleform, attenuate and smooth notogastral setae, most of them characteristically bent, medium in the length (c 1 < c 1 - d 1); notogastral setae c 1 and c 3 slightly remote from anterior notogastral margin, setae c 2 far from the margin. Vestigial setae and lyrifissures not visible. Ventral region — setae h of subcapitular mentum considerably longer than distance between them. Formula of minute genital setae: 6(4+2): 3. Anoadanal plates with minute, needleform setae similar in length; adanal setae ad 3 situated in the middle of plates. Legs — Formulae of setae and solenidia of "complete type "; setae d on femora I needleform and situated at distal end of article. Material examined — Holotype is deposited at DATE from locus typicus: North Madagascar, Montagne d’Ambre National Park, circuit Sommet, 12. I. 2015, evergreen rain forest, latitude 12°31’52" S, longitude 49°10’17" E, altitude 1169 m, sifted of Pandanus sp. litter sample, Winkler apparatus extraction, leg. P. Ba &caron;na&caron;r and E. M. Rabotoson. Etymology — The prefix para is Latin meaning "near" and refers to the similarity the new species with A. (H.) stenos Niedba&lstrok;a et Starý, 2014. Comparison — The new species is slightly similar to A. (H.) stenos Niedba&lstrok;a et Starý, 2014 from Tanzania in the shape of the sensilli and shape and length of prodorsal, genital, anal and adanal setae. The new species is distinguishable from A. (H.) stenos by the absence of powerful median crista of prodorsum and anterior cowl of notogaster, curved notogastral setae, longer setae h of the mentum (versus shorter setae) and setae d of femora I situated at distal end of article (versus remote from distal end) (Niedba&lstrok;a and Starý 2014a)., Published as part of Niedbała, W. & Starý, J., 2016, Six new species of ptyctimous mites (Acari: Oribatida) from Madagascar, pp. 485-496 in Acarologia 56 (4) on pages 494-496, DOI: 10.1051/acarologia/20164134, http://zenodo.org/record/5402188, {"references":["Niedbala W., Stary J. 2014 a - New species of Atropacarus (Hoplophorella), (Acari, Oribatida, Phthiracaridae) from the Afrotropical Region - Zootaxa, 3774 (1): 74 - 82."]}

Oribotritia perpusilla n. sp. (Figures 1) Description Measurements of holotype — Prodorsum: length 255, width 150, height 94, setae: sensillus 101, interlamellar (in) 53, lamellar (le) 43, rostral (ro) 35; notogaster: length 429, width 152, height 247; notogastral setae: c 1 and h 1 38, ps 1 45; genital and aggenital plates 99 × 38, anal and adanal plates 233 × 25. Medium-sized species; body colour pale yellow. Prodorsum — with distinct, long and simple lateral carinae. Sensilli long, bent in proximal part, smooth. Other prodorsal setae short, interlamellar (in) and rostral (ro) setae erect, rough, lamellar setae (le) procumbent, smooth, exobothridial setae (ex) vestigial. Notogaster — Notogastral setae short, c 1 / c 1 - d 1 =0.4, all notogastral setae strong, rough, except filiform setae c 3 and ps 3; setae c 1 and c 2 remote from anterior margin, setae c 3 near the margin. Ventral region — Setae h of subcapitular mentum shorter than distance between them. Anogenital cleft trv long. Nine pairs of genital and two pairs of equal aggenital setae present, genital setae g 1-5 longer than setae g 6-9. Anal plate without setae and three pairs of adanal setae present. Distance between adanal setae ad 1 and ad 2 slightly longer than between ad 2 and ad 3. Lyrifissures iad situated laterally between adanal setae ad 2 and ad 3. Legs — Chaetome of legs without tarsi: I: 1- 3-5(2)-5(1), II:1-4-3(1)-3(1), III: 3-2-3(1)-3(1), IV: 3-2- 2(1)-3(1); all tarsi heterotridactylous. Material examined — Holotype is deposited at DATE from locus typicus: Madagascar, Ranomafana National Park, Vatoharanana, 3. X. 2012, evergreen rain forest, latitude 21°16’42.2" S, longitude 47°26’18.2" E, altitude about 1000 m, sifted forest leaf litter, Winkler apparatus extraction, leg. L. S. Rahanitriniaina. Etymology — The name of the new species perpusillus is Latin for "very small" and alludes to the small size of body in comparison with congeners. Comparison — The new species differs from its congeners by the small size, the long, simple lateral carinae of the prodorsum and long, bent sensilli, absence of anal setae and presence of three pairs of adanal setae., Published as part of Niedbała, W. & Starý, J., 2016, Six new species of ptyctimous mites (Acari: Oribatida) from Madagascar, pp. 485-496 in Acarologia 56 (4) on page 486, DOI: 10.1051/acarologia/20164134, http://zenodo.org/record/5402188

Uroobovella serangensis HIRAMATSU, 1980 Material examined: six females, MAY-044, West Malaysia, Batu Caves, 30.XII.2010, rain forest on lime-stone bedrock, GPS 03°14’50“N, 101°41’17“E, wet site with rich brushwood, sample of leaf litter, leg. J. FARSKÁ (three in ISB, three in HNHM). Distribution: Indonesia and Malaysia.

Uropoda gigantea sp. n. (Figs 11–19) Material examined. Holotype, female. MAY-004, Malaysia, Pahang, Cameron Highlands, Tanan Rata village environs, altitude ca. 1470–1550 m, near Parit Fall, sifting of leaf litter and rotten wood, 25.IV–15.V.2009, leg. P. Ba&ncaron;a&rcaron; (in HNHM). Paratypes: One female and two males (in ISB), one female and one male (in NHMG) and two females and two male (in HNHM), locality and date same as in holotype. Description. Female. Length of idiosoma 1930–1950 µm, width 1640–1660 µm (n = 9). Shape oval, anterior margin with a wide indentation, posterior margin rounded. Dorsal idiosoma (Figs 11 & 17). Dorsal and marginal shields separated completely. All dorsal setae strongly curved, smooth and needle-like, central area bearing longer setae (ca. 130–160 µm) than lateral area of dorsal shield (ca. 47–50 µm). Caudal region of dorsal shield emended from surface, this area bearing long and smooth setae (ca. 150 µm). Dorsal shield covered by small oval pits. Marginal shield reduced on caudal area, marginal shield covered by characteristic sculptural pattern (Fig. 16), and bearing long (ca. 150–170 µm) and smooth setae. Caudal area of dorsal idiosoma bearing four pairs of long (ca. 120–130 µm) and smooth setae which situated on membranous cuticle. Ventral idiosoma (Figs 12 & 18). Sternal shield without ornamentation with two deep, longitudinal furrows situated between anterior margin of sternal shield and anterior margin of genital shield. Setae St1 and St2 short (ca. 22–24 µm), needle-like and situated near anterior margin of genital shield. St3 short (ca. 30 µm) and placed on level of central region of coxae III, St4 (ca. 50 µm) on level of posterior margin of coxae III, St4 (ca. 65 µm) near basal edges of genital shield. Ventral shield covered by small oval pits on caudal area, several large oval pits present near basal line of genital shield and irregular pits situated on pedofossae. Ventral setae smooth and needle-like, V1, V3, V4, V5 and V6 ca. 140–160 µm, V2 ca. 70 µm, their position illustrated on Fig. 12. Setae ad1 and ad2 smooth, needle-like and short, postanal seta absent. Several smooth and needle-like setae (ca. 130–140 µm) situated near caudal margin of ventral shield. Stigmata situated between coxae II and III, peritremes hook-shaped. Genital shield placed between coxae III and IV, its shape rounded, with reticulate sculptural pattern and without anterior process. Tritosternum with narrow basis, laciniae divided into four smooth branches (Fig. 13). Legs. All segments with simple and smooth setae and claws absent at the tip of leg I. Gnathosoma (Figs 14 & 19). Corniculi horn-like, internal malae long, narrow and apically pilose. Hypostomal setae h1 smooth and needle-like (ca. 105 µm), placed near anterior margin of hypostoma, h2 (ca. 20 µm) smooth and needle-like, h3 (ca. 27 µm) and h4 (ca. 20 µm) marginally serrate. Palp trochanter with one short and smooth, and one long and smooth setae situated on a long and projecting bases. Epistome marginally pilose (lateral part illustrated on Fig. 19). Chelicerae with two teeth on movable digit and one tooth on the fixed digit, internal sclerotized node absent, a bulbiform apical process present on fixed digit (Fig. 15). Male. Length of idiosoma 1900–1920 µm, width 1560–1570 µm (n = 4). Shape oval, posterior margin rounded. Dorsal idiosoma. Ornamentation and chaetotaxy as for female. Ventral idiosoma. Ornamentation and chaetotaxy of ventral shield as for female. Sternal shield ornamented by reticulate sculptural pattern, all sternal setae smooth and needle-like. St1, St2 and St3 short (ca. 28 µm), St3 and St5 long (ca. 42 µm), St1 situated near anterior margin of sternal shield, St2 placed at level of central region of coxae II, St3 at level of central region of coxae III, St4 at level of anterior margin of coxae IV, St5 near lateral margins of genital shield. Genital shield bearing one pair of smooth setae (ca. 100 µm), its shape oval and placed between coxae IV (Fig. 16). Gnathosoma and other appendages same as in female. Nymphs and larva are unknown. Etymology: The name of new species refers to the large size of idiosoma. Remarks. The new species belongs to the Uropoda splendida -group (common character is the strongly sclerotized dorsal lines), the new species is closely related to Uropoda shibai HIRAMATSU, 1980, because the other species from this group have either strongly sclerotized E-shaped line on dorsal shieldor bear pilose caudal setae which cannot be found in the new one. The most important differences are the followings: female of the new species has oval pits on ventral shield near the basal line of genital shield; this character is missing in the known species. The new species has six pairs of ventral setae; in contrast, the known species bears only five pairs of ventral setae. Anterior margin of genital shield of female is serrate in the known species, but smooth in the new one. The sternal shield of male is covered by reticulate sculptural pattern, contrary, the sternal shield of the new species is smooth.

Kontsch��n, J., Star��, J. (2012): New Uropodina Species And Records From Malaysia (Acari: Mesostigmata). Acta Zoologica Academiae Scientiarum Hungaricae 58 (2): 177-192, DOI: http://doi.org/10.5281/zenodo.5735765, {"references":["BLOSZYK, J. & ATHIAS- BINCHE, F. (1986) Cyllibula (Wagenaaria) jakubi n. subgen. n. sp. from Caribbean Islands (Anactinotrichida: Uropodina). International Journal of Acarology 12(3): 163-170.","HIRSCHMANN, W. (1977) Gangsystematik der Parasitiformes. Teiles 131 und 132. Opuscula Zoologica, Budapest 14(1-2): 86-89.","HIRSCHMANN, W. (1989) Die Ganggattung Uroobovella Berlese, 1903. Artengruppen - Bestimmungstabellen - Diagnosen. Acarologie. Schriftenreihe fur Vergleichende Milbenkunde 36: 84-196.","KONTSCHAN, J. (2008) New and rare Rotundabaloghia species (Acari: Uropodina) from the tropics. Opuscula Zoologica, Budapest 38: 15-41.","KONTSCHAN, J. (2010a) Depressorotunda gen. nov., a new remarkable Uropodina mite genus from South-East Asia with description of four new species (Acari: Mesostigmata). Journal of Natural History 44(21-24): 1461-1473.","KONTSCHAN, J. (2010b) Rotundabaloghiid mites of the world (Acari: Mesostigmata: Uropodina). AdLibrum Kiado, Budapest, 116 pp.","KONTSCHAN, J. (2010c) Three new Deraiophorus Canestrini, 1897 species from Thailand (Acari: Uropodina: Eutrachytidae). Revue suisse de Zoologie 117(2): 199-211.","KONTSCHAN, J. & STARY, J. (2011) Uropodina species from Vietnam (Acari: Mesostigmata). Zootaxa 2807: 1-28.","VAZQUEZ, M. M. & KLOMPEN, H. (2007) New records of Uropodina mites from Mexico, Guatemala, Belize and Costa Rica. Dugesiana 14(1): 27-37.","WISNIEWSKI, J. (1993) Gangsystematik der Parasitiformes Teil 549. Die Uropodiden der Erde nach Zoogeographischen Regionen und Subregionen geordnet (Mit Angabe der Lande). Acarologie. Schriftenreihe fur Vergleichende Milbenkunde 40: 221-291.","WISNIEWSKI, J. & HIRSCHMANN, W. (1993) Gangsystematik der Parasitiformes Teil 548. Katalog der Ganggattungen, Untergattungen, Gruppen und Arten der Uropodiden der Erde. Acarologie. Schriftenreihe fur Vergleichende Milbenkunde 40: 1-220."]}

Cyllibula ovalis sp. n. (Figs 1–10) Material examined. Holotype, female. Malaysia, May 2009, Pahang, Cameron Highlands, Tanan Rata village environs, 04°28.52’N, 101°23.02’E, ca. 1500 m, near Parit Fall, sifting of leaf litter, leg. P. Ba&ncaron;a&rcaron; (in HNHM). Paratypes: Four females, two males (in ISB) and four females, two males (in HNHM), locality and date same as in holotype. Description. Female. Length of idiosoma 1400–1420 µm, width 920–980 µm (n = 9). Shape oval, anterior margin with small vertex, posterior margin rounded. Dorsal idiosoma (Figs 1 & 8). Dorsal and marginal shields fused close to the anterior margin. All dorsal setae smooth and needle-like (ca. 80–90 µm), dorsal shield covered by oval pits. Pygidial shield present, with some oval pits and bearing one pair of smooth and needle-like setae (ca. 90 µm). Internal margin of marginal shield undulate, setae on marginal shield similar in shape and length to dorsal setae. Ventral idiosoma (Figs 2 & 9). Sternal shield without ornamentation, St1 short (ca. 20 µm), needle-like and situated near anterior margin of sternal shield. St2, St3, St4 and St5 long (ca. 50–65 µm), St2 placed on level of posterior margin of coxae II, St3 on level of posterior margin of coxae III, St4 near basal edges of genital shield, St5 near to basal line of genital shield. Ventral shields mostly smooth, but reticulate sculptural pattern present near basal edges of genital shield and ornamented by oval pits in caudal area of ventral shield. Ventral shield neotrichous, ventral setae smooth and needle-like (ca. 80–90 µm). Adanal setae similar in shape and length to ventral setae, postanal seta absent. Stigmata situated between coxae II and III, peritremes hook-shaped. Genital shield wide, linguliform, without sculptural pattern and anterior process. Tritosternum with narrow basis, laciniae with three branches, central one long and smooth, two lateral branches marginally pilose and short (Fig. 3). Legs. All segments with simple and smooth setae and claws absent at the tip of leg I. Gnathosoma (Figs 4 & 10). Corniculi horn-like, internal malae marginally pilose, apically covered byshort hairs and longer than corniculi. Hypostomal setae h1 placed near anterior margin of hypostoma, (ca. 70 µm) smooth and needle-like, and h2 (ca. 40 µm), h3 (ca. 35 µm) and h4 (ca. 20 µm) marginally serrate. Trochanter with one short and marginally serrate seta, and other seta long, apically divided into two branches and these branches with serrate margins. Epistome marginally serrate and apically divided into four pilose branches (Fig. 5). Chelicera with one large tooth on movable digit and several short teeth on the fixed digit, internal sclerotized node present (Fig. 6). Male. Length of idiosoma 1330–1410 µm, width 920–980 µm (n = 4). Shape oval, posterior margin rounded. Dorsal idiosoma. Ornamentation and chaetotaxy as for female. Ventral idiosoma. Ornamentation and chaetotaxy of ventral shield as for female. Sternal shield bearing small oval pits, all of sternal setae smooth and thorn-like. St1, St2, St4 and St5 short (ca. 25–30 µm), St3 long (ca. 50 µm), St1 situated near anterior margin of sternal shield, St2 placed on level of posterior margin of coxae II, St3 on level of posterior margin of coxae III, St4 near anterior margin of genital shield, St4 near posterior margin of genital shield. Genital shield rounded and placed between coxae IV. Gnathosoma and other appendages similar to that of female. Nymphs and larva are unknown. Etymology: The name of the new species refers to the shape of idiosoma. Remarks. HIRSCHMANN (1977) divided the genus Cyllibula into two subgenera and simultaneously sorted the Cyllibula species into four species groups on the basis of the shape of fourth hypostomal setae. Some years later B&Lstrok;OSZYK and ATHIAS- BINCHE (1986) established a new subgenus (Wagenaaria) within the genus Cyllibula ignoring the previous subgeneric classification of this genus. Following HIRSCHMANN’ s (1977) subgeneric division (we need to ignore B&Lstrok;OSZYK and ATHIAS- BINCHE’ (1986) concept, because they did not apply their subgeneric system for the whole genus), we placed the new species into Baloghicyllibula (based on the shape of chelicerae and setae h4), however, the shape of idiosoma and peritreme, and the presence of pygidial shield is a unique character combination in this subgenus and in the genus. The new species differs from the single species presented from Malaysia (Cyllibula shibai HIRAMATSU, 1980) in shape of peritreme (spiral like in known species and hook-shaped in the new species), in the ornamentation of genital shield of female (covered by oval pits in known species and smooth in the new one) and in the presence of pygidial shield (absent in the known species and present in the new one).

Classical cytogenetic analysis plays an important role in the diagnosis, classification, therapy monitoring and prognosis of patients with leukemia. Many recurrent cytogenetic abnormalities with major prognostic values have been described in childhood ALL. Hyperdiploidy and/or t(12;21) are associated with good prognosis, whereas t(9;22) and/or rearrangements of MLL gene correlate with poor outcome and therefore early detection of these abnormalities is very important. FISH can overcome some limitations of conventional cytogenetic and molecular-genetic analyses and due to high sensitivity specific chromosomal aberrations in mitoses and/or interphase nuclei can be detected. In the Center of Oncocytogenetics of the 3rd Medical Department for assessment of hyperdiploidy and structural rearrangements we use double-color FISH with centromeric and/or locus-specific probes and complex aberrations are ascertained by whole chromosome painting probes and multicolor FISH. Among 275 children with ALL examined during the last 8 years by different FISH methods we found seven patients with translocation t(9;22) and 14 patients with MLL rearrangements in bone marrow cells. Since 1988 we focus on detection of hyperdiploidy and/or t(12;21). High hyperdiploidy was found in 35 children, 10 of them had further complex rearrangements. Translocation t(12;21) was proved in 37 patients and complex rearrangements were found in 22 of them. FISH, cytogenetic and molecular-genetic analyses become obligatory for the first diagnostic examination as well as for monitoring of treatment effect in children with ALL.

Star��, Jaroslav, Obo��a, Jozef (2013): Nasiternella regia, a redescription of the adult and neotype designation (Diptera: Pediciidae). Acta Entomologica Musei Nationalis Pragae 53 (1): 315-322, DOI: http://doi.org/10.5281/zenodo.5739809, {"references":["ALEXANDER C. P. 1916: New or little-known crane-flies from the United States and Canada: Tipulidae, Ptychopteridae, Diptera. Part 3. Proceedings of the Academy of Natural Sciences of Philadelphia 68: 486-549.","ALEXANDER C. P. 1919:The crane-flies of New York. Part I. Distribution and taxonomy of the adult flies. Cornell University Agricultural Experiment Station, Memoir 25: 767-993.","ALEXANDER C. P. 1927: The interpretation of the radial field of the wing in the nematocerous Diptera, with special reference to the Tipulidae. Proceedings of the Linnean Society of New South Wales 52: 42-72.","ALEXANDER C. P. 1930:A comparison of the system of nomenclature that have been applied to the radial field of the wing in the Diptera. Proceedings of the Fourth International Congress of Entomology 2: 700-707.","ALEXANDER C. P. 1934: New or little-known Tipulidae from eastern Asia (Diptera), XVIII. Philippine Journal of Science 53: 267-300.","ALEXANDER C. P. 1950: Entomological results from the Swedish expedition 1934 to Burma and British India. Diptera: Tipulidae - Pediciini. Collected by Rene Malaise. Arkiv for Zoologi 42A: 1-21.","ALEXANDER C. P. 1962: New or little-known Tipulidae from eastern Asia (Diptera), XLIX. Philippine Journal of Science 90: 155-214.","DIENSKE J. W. 1987: An illustrated key to the genera and subgenera of the Western Palaearctic Limoniidae (Insecta: Diptera), including a description of the external morphology. Stuttgarter Beitrage zur Naturkunde (A) 409: 1-52.","EDWARDS F. W. 1938: British short-palped craneflies. Taxonomy of adults. Transactions of the Society for British Entomology 5: 1-168.","HENNIG W. 1954: Flugelgeader und System der Dipteren unter Berucksichtigung der aus dem Mesozoikum beschriebenen Fossilien. Beitrage zur Entomologie 4: 245-388.","LACKSCHEWITZ P. 1940: Die palaarktischen Limnophilinen, Anisomerinen und Pediciinen (Diptera) des Wiener Naturhistorischen Museums. Annalen des Naturhistorischen Museums in Wien 50 (1939): 68-122.","MCALPINE J. F. 1981: Morphology and terminology - adults. Pp. 9-63. In: MCALPINE J. F., PETERSON B. V., SHEWELL G. E., TESKEY H. J., VOCKEROTH J. R. & WOOD D. M. (eds.): Manual of Nearctic Diptera 1. Monograph No. 27. Research Branch, Agriculture Canada, Ottawa, 674 pp.","OBONA J. & STARY J. 2013: Description of the larva and pupa of Nasiternella regia (Diptera: Pediciidae) from Slovakia, with notes on ecology and behaviour. Biologia (Bratislava) 68: 345-350.","OOSTERBROEK P. 2012: Catalogue of the craneflies of the World (Insecta, Diptera, Nematocera, Tipuloidea). Version 10 March 2012 [online]. Available from http://ip30.eti.uva.nl/ccw/","RIEDEL M. P. 1914: Neue und wenig bekannte Limnobiiden aus dem Ungarischen National-Museum (Dipt.). Annales Musei Nationalis Hungarici 12: 146-152.","SAVCHENKO E. N. 1986: Limoniidae (Introduction, Pediciinae, Hexatominae). Fauna Ukrainy 14(2). Naukova Dumka, Kiev, 380 pp. (in Russian).","SAVCHENKO E. N. 1989: Komary-limoniidy fauny SSSR. [Limoniid-flies of the fauna of the USSR]. Akademia Nauk Ukrainskoi SSR, Naukova Dumka, Kiev, 377 pp. (in Russian).","SAVCHENKO E. N., OOSTERBROEK P.& STARY J. 1992: Family Limoniidae.Pp. 183-369. In: SOOS A., PAPP L. & OOSTERBROEK P. (eds.): Catalogue of Palaearctic Diptera, 1. Hungarian Natural History Museum, Budapest, 520 pp."]}

Patients undergoing allogeneic hematopoietic stem cell transplantation (AHSCT) are endangered by developing Epstein-Barr virus-related post-transplant lymfoprolipherative disease (EBV-LPD). The aims of the study were to retrospectively characterise the viral loads in four patients who died of this complication, and to test possible risk factors for EBV reactivation in a prospectively observed cohort of children after AHSCT.Serial DNA samples extracted from whole blood from four patients who died of post-transplant EBV-LPD in year 2000 were retrospectively analysed for EBV load using quantitative real-time PCR. First detection of EBV activation preceded death by 24-91 days. All four patients exceeded a viral load of one million EBV copies per 100,000 human genome equivalents. A cohort of 72 children undergoing AHSCT between 2001-2004 was prospectively followed-on using the same quantification method from regularly obtained samples of whole blood, and clinical and laboratory data were recorded on a weekly basis, totalling at 3,896 person-weeks of observation. Approximately one half of the cohort experienced at least one episode of EBV reactivation during the first 100 days after AHSCT, four of the episodes being accompanied with viral loads higher than our provisional threshold of 10,000 copies per 100,000 human genome equivalents. Three of the four patients developed EBV-LPD and were successfully treated by intravenous administration of anti-CD20 antibody. Testing of possible clinical and laboratory predictors of EBV reactivation did not reveal any clinically useful association.The cornerstone of predicting EBV-LPD in AHSCT is a regular monitoring of EBV viral load using quantitative methods. Using this strategy with a threshold of 10,000 EBV copies per 100,000 human genome equivalents was proved to be effective, as shown by no death of EBV for the study period, compared to four cases in the year before the quantitative monitoring.

The case of a 7-year-old boy with virus-associated hemophagocytic syndrome (VAHS) and serologically proven parvovirus B-19 infection is described. The patient with VAHS presented with fever, hepatosplenomegaly, pancytopenia, and hyperlipidemia type IV. After induction therapy with VP-16 and prednisone, partial remission was achieved. Despite maintenance therapy, reinductions, and the addition of cyclosporine A for 3 months, several relapses occurred. The therapy was stopped because of life-threatening complications (Klebsiella sepsis, neutropenic enterocolitis, and stercoral peritonitis). The complications were treated successfully. The patient status was stabilized after splenectomy. However, hepatomegaly progressed slowly and the hyperlipidemia endured. Ten months after the diagnosis leukocytosis with absolute T lymphocytosis appeared. Reactivation of VAHS was suspected and intravenous immunoglobin and then antilymphocyte immunoglobulin ALG therapy were started. The resultant decrease in leukocytosis was prompt, but lymphopenia did not occur. Virostatic treatment with foscarnet was introduced based on human herpesvirus-6 seroconversion. Twenty-six months after the diagnosis, the patient is well, without any sign of VAHS or lymphoproliferation.

The BCR/ABL and MLL/AF4 fusion genes--resulting from t(9;22)(q34;q11) and t(4;11)(q21;q23) translocations, respectively--are considered as a high risk prognostic factors in children with acute lymphoblastic leukaemia (ALL). Their presence in malignant cells indicates patient for the most intensive antileukaemic therapy regardless of the other criteria. In contrast, the most common non-random chromosomal aberration in paediatric ALL--translocation t(12;21)(q12;q22)--is associated with a favourable prognosis. The examination of these rearrangements is important for the stratification of patients to the risk groups and also provides the most sensitive and specific tool for minimal residual disease (MRD) follow-up.This study comprises 241 patients with ALL from Czech and Slovak Republics younger than 18 years at diagnosis. They were examined for presence of m-RNA of fusion genes BCR/ABL, MLL/AF4 and TEL/AML1 by reverse transcriptase-polymerase chain reaction (RT-PCR) method. Seven out of 197 (3.6%) carried MLL/AF4 fusion gene, but among infants it was 56% (5 out of 9). BCR/ABL positivity was found in 2.5% (7 out of 240) and TEL/AML1 in 21.7% (41 out of 189) cases. Event free survival (EFS) curves demonstrate the clinical impact of these hybrid genes on patients' prognosis. Moreover, we present the possibility of the monitoring of MRD levels in follow-up samples of these patients.All particular rearrangements were found only in a cohort of patients with B-precursor ALL (or hybrid leukaemia), which constitutes 85% of our group. Presence of BCR/ABL or MLL/AF4 fusion gene is associated with poor prognosis and is indispensable condition for correct stratification of patients to the risk groups according to treatment protocols. Hybrid gene TEL/AML1 defines subgroup of children with better prognosis and due to its high frequency provides us with a very useful tool for MRD detection.