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1.
Pediatr Blood Cancer ; : e28009, 2019 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-31736251

RESUMO

BACKGROUND: Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft-tissue tumor with benign histologic appearance, though fully malignant behavior is possible. METHODS: Patients with LGFMS <21 years registered in Cooperative Weichteilsarkom Studiengruppe trials until 2017 were analyzed. Firstline treatment consisted of complete surgical resection whenever possible. RESULTS: Median age of 31 patients was 10.9 years (first month to 17.1 years). Twenty-six tumors were confirmed to the tissue of origin (T1), four invaded contiguous structures (T2), one was TX. Eight were >5 cm. The best surgical result was resection with free margins (R0) in 24 and microscopic residuals (R1) in seven. Five-year event-free (EFS), 5-year local-relapse-free (LRFS), and 5-year overall-survival were 71 ± 18.6% confidence interval (CI) 95%, 76 ± 17.6% CI 95%, and 100%, respectively. Six patients suffered local relapse in a median of 1 year, one combined within 1.3 year and one metastatic relapse with lesions in the lung, back muscles, and thigh discovered in whole-body imaging 6 years after the first diagnosis. In univariate analysis, T status correlated with EFS (T1 79.6 ± 18.6%, T2 50.0 ± 49.0%, P = .038). Resection with free margins tends to be associated with better LRFS (R0 82.4 ± 18.6%, R1 53.6 ± 39.4%, P = .053). Among 24 patients with R0 resection, five (21%) suffered relapse, thereof three local, one metastatic, and one combined. Among seven patients with R1-resection, three (43%) suffered local relapse. CONCLUSION: Special caution is advisable in T2 tumors. The metastatic potential with lesions in unusual sites indicates that affected patients need to be informed. If long-term follow-up with whole-body imaging is beneficial, it may be addressed in larger intergroup analyses. Further research in disease biology is essential for optimal treatment and follow-up care.

2.
BMC Cancer ; 19(1): 945, 2019 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-31610788

RESUMO

BACKGROUND: Biliary rhabdomyosarcoma (RMS) is the most common biliary tumor in children. The management of affected patients contains unique challenges because of the rarity of this tumor entity and its critical location at the porta hepatis, which can make achievement of a radical resection very difficult. METHODS: In a retrospective chart analysis we analysed children suffering from biliary RMS who were registered in three different CWS trials (CWS-96, CWS-2002P, and SoTiSaR registry). RESULTS: Seventeen patients (12 female, 5 male) with a median age of 4.3 years were assessed. The median follow-up was 42.2 months (10.7-202.5). The 5-year overall (OS) and event free survival (EFS) rates were 58% (45-71) and 47% (34-50), respectively. Patients > 10 years of age and those with alveolar histology had the worst prognosis (OS 0%). Patients with botryoid histology had an excellent survival (OS 100%) compared to those with non-botryoid histology (OS 38%, 22-54, p = 0.047). Microscopic complete tumor resection was achieved in almost all patients who received initial tumor biopsy followed by chemotherapy and delayed surgery. CONCLUSION: Positive predictive factors for survival of children with biliary RMS are age ≤ 10 years and botryoid tumor histology. Primary surgery with intention of tumor resection should be avoided.

3.
Front Plant Sci ; 10: 1174, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31611896

RESUMO

Flow cytometry is widely used to determine genome size and ploidy level in plants. This technique, when coupled with fluorescence-activated cell sorting (FACS), whole genome amplification and genotyping (WGA), opens up new opportunities for genetic studies of individualized nuclei. This strategy was used to analyze the genetic composition of single pollen nuclei of different citrus species. The flow cytometry and microscope observations allowed us to differentiate the populations of pollen nuclei present in the diploid and euploid genotypes analyzed, showing that citrus has binuclear pollen. We have identified in the "CSO" tangor an additional nuclei population composed by the vegetative plus generative nuclei. Genotyping of this nuclei population revealed that vegetative and generative nuclei show the same genetic configuration. In addition, we have demonstrated the presence of unreduced gametes in the diploid genotype "Mexican lime." Genomic amplification is a robust method for haploid nuclei genotyping with several molecular markers, whereas in diploid nuclei using heterozygous markers showed a bias towards one of the two alleles, limiting the use of this tool in this type of nuclei. We further discuss the importance and applications of single pollen genotyping in citrus genetic studies.

4.
Pediatr Blood Cancer ; 66 Suppl 3: e27884, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31393080

RESUMO

BACKGROUND: Ewing tumors are the most frequent malignant tumors of the chest wall in children and young adults. Surgical management of these tumors can be challenging. Optimal local control remains controversial. The aim of this study was to analyze treatment, outcome, and surgical procedures in patients with thoracic tumors of the Ewing sarcoma family (TES) treated within four Cooperative Soft-Tissue Sarcoma (CWS) trials and one registry. PATIENTS AND METHODS: Sixty-two patients from 0 to 21 years treated between 1981 and 2014 were selected for this analysis. A retrospective chart analysis was carried out. Institutional review board approval was obtained for all trials. RESULTS: The median age of the patients was 7 years. The 5-year overall (OS) and event-free survival (EFS) rates were 58.7% (52.7-64.7) and 52.8% (46.8-58.8). Patients with intrathoracic tumor localization (n = 24) had a worse outcome (EFS: 37.5%; 27.5-37.5) compared with those with chest wall tumors (n = 38; EFS: 62.3%; 54.3-70.3, P = 0.008). Patients ≤10 years (n = 38) had a better survival compared with those > 10 years (EFS: 65.7%; 57.7-73.7 vs 31.3%; 21.3-41.3, P = 0.01). Tumor size ≤5 cm (n = 15) was associated with significantly better survival compared with a size > 5 cm (n = 47, EFS: 93.3%; 87.3-99.3 vs 40%; 33-47, P = 0.002). Primary resections were carried out in 36 patients, of which 75% were incomplete resulting in inferior EFS (P = 0.006). Complete secondary resections were performed in 22 of 40. CONCLUSIONS: Positive predictive factors for outcome are age ≤10 years, size ≤5 cm, and localization at the chest wall. Diverse IRS groups require individual treatment.

5.
Cells ; 8(8)2019 07 30.
Artigo em Inglês | MEDLINE | ID: mdl-31366044

RESUMO

Identification and isolation of neural progenitor cells from the human enteric nervous system (ENS) is currently hampered by the lack of reliable, specific markers. Here, we define the Wnt-receptor frizzled-4 as a marker for the isolation of enteric neural progenitor cells derived from paediatric gut samples. We show that the Wnt-receptor frizzled-4 is expressed in the human colon and in Tunica muscularis-derived enterospheres. To obtain a purified culture, we carried out fluorescence-activated cell sorting (FACS) using PE-conjugated frizzled-4 antibodies. Frizzled-4positive cells gave rise to neurosphere-like bodies and ultimately differentiated into neurons as revealed by BrdU-proliferation assays and immunocytochemistry, whereas in frizzled-4negative cultures we did not detect any neuronal and glial cells. By using a patch-clamp approach, we also demonstrated the expression of functional sodium and potassium channels in frizzled-4positive cell cultures after differentiation in vitro.

6.
New Phytol ; 223(3): 1340-1352, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31038752

RESUMO

B chromosomes (Bs) are supernumerary chromosomes, which are often preferentially inherited. When transmission rates of chromosomes are higher than 0.5, not obeying the Mendelian law of equal segregation, the resulting transmission advantage is collectively referred to as 'chromosome drive'. Here we analysed the drive mechanism of Aegilops speltoides Bs. The repeat AesTR-183 of A. speltoides Bs, which also can be detected on the Bs of Aegilops mutica and rye, was used to track Bs during pollen development. Nondisjunction of CENH3-positive, tubulin interacting B sister chromatids and an asymmetric spindle during first pollen grain mitosis are key for the accumulation process. A quantitative flow cytometric approach revealed that, independent of the number of Bs present in the mother plant, Bs accumulate in the generative nuclei to > 93%. Nine out of 11 tested (peri)centromeric repeats were shared by A and B chromosomes. Our findings provide new insights into the process of chromosome drive. Quantitative flow cytometry is a useful and reliable method to study the drive frequency of Bs. Nondisjunction and unequal spindle organization accompany during first pollen mitosis the drive of A. speltoides Bs. The prerequisites for the drive process seems to be common in Poaceae.

7.
New Phytol ; 222(3): 1652-1661, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30847946

RESUMO

Visualising the spatio-temporal organisation of the genome will improve our understanding of how chromatin structure and function are intertwined. We developed a tool to visualise defined genomic sequences in fixed nuclei and chromosomes based on a two-part guide RNA with a recombinant Cas9 endonuclease complex. This method does not require any special construct or transformation method. In contrast to classical fluorescence in situ hybridiaztion, RGEN-ISL (RNA-guided endonuclease - in situ labelling) does not require DNA denaturation, and therefore permits a better structural chromatin preservation. The application of differentially labelled trans-activating crRNAs allows the multiplexing of RGEN-ISL. Moreover, this technique is combinable with immunohistochemistry. Real-time visualisation of the CRISPR/Cas9-mediated DNA labelling process revealed the kinetics of the reaction. The broad range of adaptability of RGEN-ISL to different temperatures and combinations of methods has the potential to advance the field of chromosome biology.

9.
Sci Rep ; 9(1): 3234, 2019 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-30824726

RESUMO

Duckweeds are small, free-floating, largely asexual and highly neotenous organisms. They display the most rapid growth among flowering plants and are of growing interest in aquaculture and genome biology. Genomic and chromosomal data are still rare. Applying flow-cytometric genome size measurement, microscopic determination of frond, cell and nucleus morphology, as well as fluorescence in situ hybridization (FISH) for localization of ribosomal DNA (rDNA), we compared eleven species, representative for the five duckweed genera to search for potential correlations between genome size, cell and nuclei volume, simplified body architecture (neoteny), chromosome numbers and rDNA loci. We found a ~14-fold genome size variation (from 160 to 2203 Mbp), considerable differences in frond size and shape, highly variable guard cell and nucleus size, chromosome number (from 2n = 36 to 82) and number of 5S and 45S rDNA loci. In general, genome size is positively correlated with guard cell and nucleus volume (p < 0.001) and with the neoteny level and inversely with the frond size. In individual cases these correlations could be blurred for instance by particular body and cell structures which seem to be linked to specific floating styles. Chromosome number and rDNA loci variation between the tested species was independent of the genome size. We could not confirm previously reported intraspecific variation of chromosome numbers between individual clones of the genera Spirodela and Landoltia.

10.
Cancer Med ; 8(2): 527-542, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30652419

RESUMO

BACKGROUND: To evaluate optimal therapy and potential risk factors. METHODS: Data of DSRCT patients <40 years treated in prospective CWS trials 1997-2015 were analyzed. RESULTS: Median age of 60 patients was 14.5 years. Male:female ratio was 4:1. Tumors were abdominal/retroperitoneal in 56/60 (93%). 6/60 (10%) presented with a localized mass, 16/60 (27%) regionally disseminated nodes, and 38/60 (63%) with extraperitoneal metastases. At diagnosis, 23/60 (38%) patients had effusions, 4/60 (7%) a thrombosis, and 37/54 (69%) elevated CRP. 40/60 (67%) patients underwent tumor resection, 21/60 (35%) macroscopically complete. 37/60 (62%) received chemotherapy according to CEVAIE (ifosfamide, vincristine, actinomycin D, carboplatin, epirubicin, etoposide), 15/60 (25%) VAIA (ifosfamide, vincristine, adriamycin, actinomycin D) and, 5/60 (8%) P6 (cyclophosphamide, doxorubicin, vincristine, ifosfamide, etoposide). Nine received high-dose chemotherapy, 6 received regional hyperthermia, and 20 received radiotherapy. Among 25 patients achieving complete remission, 18 (72%) received metronomic therapies. Three-year event-free (EFS) and overall survival (OS) were 11% (±8 confidence interval [CI] 95%) and 30% (±12 CI 95%), respectively, for all patients and 26.7% (±18.0 CI 95%) and 56.9% (±20.4 CI 95%) for 25 patients achieving remission. Extra-abdominal site, localized disease, no effusion or ascites only, absence of thrombosis, normal CRP, complete tumor resection, and chemotherapy with VAIA correlated with EFS in univariate analysis. In multivariate analysis, significant factors were no thrombosis and chemotherapy with VAIA. In patients achieving complete remission, metronomic therapy with cyclophosphamide/vinblastine correlated with prolonged time to relapse. CONCLUSION: Pleural effusions, venous thrombosis, and CRP elevation were identified as potential risk factors. The VAIA scheme showed best outcome. Maintenance therapy should be investigated further.

11.
Pediatr Blood Cancer ; 66(2): e27517, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30362235

RESUMO

Advanced and relapsed intraperitoneal rhabdomyosarcomas in young children represent an oncological challenge and options for local tumor control are limited. Cytoreductive surgery (CRS) combined with hyperthermic intraperitoneal chemotherapy (HIPEC) is commonly used in advanced peritoneal tumors in adults. However, no studies are available regarding CRS and HIPEC in young children. We report our experiences treating six patients with intraperitoneal rhabdomyosarcoma with CRS and HIPEC using cisplatin and doxorubicin focusing on safety and outcomes. No procedure-associated mortalities occurred and no major short- or long-term toxicities were recorded. All patients showed no evidence of disease after 12-month median (7-41) follow-up.


Assuntos
Terapia Combinada/métodos , Procedimentos Cirúrgicos de Citorredução/métodos , Hipertermia Induzida/métodos , Neoplasias Peritoneais/terapia , Rabdomiossarcoma/terapia , Antineoplásicos/administração & dosagem , Pré-Escolar , Feminino , Humanos , Masculino
12.
Pediatr Radiol ; 49(3): 351-357, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30474711

RESUMO

BACKGROUND: Functional magnetic resonance (MR) urography has been well established in the diagnostic workup of congenital anomalies of kidneys and urinary tract, though long acquisition time requires sedation or general anesthesia in infants. OBJECTIVE: To evaluate the success rate of an optimized functional MR urography protocol in infants carried out in natural sleep. MATERIALS AND METHODS: We retrospectively evaluated all functional MR urographies performed under general anesthesia or during natural sleep in infants younger than 1 year between 2010 and 2017 and rated image quality in both cohorts using a 3-point Likert scale. We tested the analyzability of functional sequences using a free available software. We also calculated examination time. Finally, we compared examinations in natural sleep and those with general anesthesia using independent t-test for continuous data and Mann-Whitney U test for categorical data. RESULTS: Functional MR urography could be performed successfully during natural sleep in 38 of 42 (90%) infants younger than 10 months. Four examinations were aborted before contrast medium was administrated. In the same period, 19 functional MR urographies were performed successfully under general anesthesia. Although image quality was significantly better in this group (P<0.0001), image quality was at least diagnostic in all finished examinations in natural sleep, and the functional analyzability was given in all completed examinations. There was a significant saving in examination time during natural sleep (P<0.001). CONCLUSION: Functional MR urography can be successfully performed in natural sleep in infants younger than 10 months.


Assuntos
Imagem por Ressonância Magnética/métodos , Sono , Anormalidades Urogenitais/diagnóstico por imagem , Anestesia Geral , Meios de Contraste , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Lactente , Masculino , Estudos Retrospectivos
13.
J Surg Oncol ; 119(1): 109-119, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30421433

RESUMO

BACKGROUND: Synovial sarcoma of the foot/ankle is rare. Mutilating surgery is often discussed. METHODS: Patients registered from 1981 to 2013 were analyzed. Cooperative Weichteilsarkom Studiengruppe (CWS) protocols recommend chemotherapy for all synovial sarcoma patients. RESULTS: Thirty-two of 330 patients with localized synovial sarcoma had their tumor at the foot/ankle. Eleven of thirty-two tumors were >5 cm. Twenty were T1, 11 T2, and one TX, respectively. Eight (25%) patients underwent primary complete resection with free margins (Intergroup Rhabdomyosarcoma Study [IRS] I), 12 of 32 (38%) primary complete resection with positive margins (IRS II), and 12 of 32 (38%) had macroscopic residuals (IRS III). The best surgical result at any time was R0 in 19, R1 in 10 and R2 in one patient, and missing in two. Mutilation was documented in 14 of 32 (44%). Radiotherapy was conducted in 20 patients. All patients achieved a first complete remission. Five-year-event-free survival and overall survival rates were 80% and 86%, respectively. Four patients suffered local and four other metastatic recurrences. IRS and the best surgical result at any time did not correlate with survival. There was no prognostic difference between R0- and R1-resection. CONCLUSION: Survival expectancies for patients with localized synovial sarcomas of the foot/ankle compare favorably to that of those with other affected sites. DISCUSSION: Further studies are needed to set the limits of minimally required aggressiveness of local therapies.


Assuntos
Tornozelo/patologia , Pé/patologia , Sarcoma Sinovial/mortalidade , Criança , Terapia Combinada , Feminino , Seguimentos , Humanos , Masculino , Prognóstico , Estudos Prospectivos , Sarcoma Sinovial/patologia , Sarcoma Sinovial/terapia , Taxa de Sobrevida
14.
Pediatr Blood Cancer ; 66(3): e27537, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30421578

RESUMO

BACKGROUND: Ewing tumors are the most frequent malignant tumors of the chest wall in children and young adults. Surgical management of these tumors can be challenging. Optimal local control remains controversial. The aim of this study was to analyze treatment, outcome, and surgical procedures in patients with thoracic tumors of the Ewing sarcoma family (TES) treated within four Cooperative Soft-Tissue Sarcoma (CWS) trials and one registry. PATIENTS AND METHODS: Sixty-two patients from 0 to 21 years treated between 1981 and 2014 were selected for this analysis. A retrospective chart analysis was carried out. Institutional review board approval was obtained for all trials. RESULTS: The median age of the patients was 7 years. The 5-year overall (OS) and event-free survival (EFS) rates were 58.7% (52.7-64.7) and 52.8% (46.8-58.8). Patients with intrathoracic tumor localization (n = 24) had a worse outcome (EFS: 37.5%; 27.5-37.5) compared with those with chest wall tumors (n = 38; EFS: 62.3%; 54.3-70.3, P = 0.008). Patients ≤10 years (n = 38) had a better survival compared with those > 10 years (EFS: 65.7%; 57.7-73.7 vs 31.3%; 21.3-41.3, P = 0.01). Tumor size ≤5 cm (n = 15) was associated with significantly better survival compared with a size > 5 cm (n = 47, EFS: 93.3%; 87.3-99.3 vs 40%; 33-47, P = 0.002). Primary resections were carried out in 36 patients, of which 75% were incomplete resulting in inferior EFS (P = 0.006). Complete secondary resections were performed in 22 of 40. CONCLUSIONS: Positive predictive factors for outcome are age ≤10 years, size ≤5 cm, and localization at the chest wall. Diverse IRS groups require individual treatment.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Ósseas/terapia , Sarcoma de Ewing/terapia , Neoplasias Torácicas/terapia , Adolescente , Adulto , Neoplasias Ósseas/complicações , Neoplasias Ósseas/patologia , Criança , Pré-Escolar , Terapia Combinada , Feminino , Seguimentos , Humanos , Lactente , Masculino , Prognóstico , Estudos Retrospectivos , Sarcoma de Ewing/complicações , Sarcoma de Ewing/patologia , Taxa de Sobrevida , Neoplasias Torácicas/complicações , Neoplasias Torácicas/patologia , Adulto Jovem
15.
Mol Phylogenet Evol ; 131: 181-192, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30415022

RESUMO

In Europe, the genus Diphasiastrum (Lycopodiophyta) forms a reticulate network of six diploid taxa, including three parent species (D. alpinum, D. complanatum and D. tristachyum) and three hybrids (D. × issleri, D. × oellgaardii and D. × zeilleri). It was not clear if the hybrids arose once or repeatedly, if they have reproductive competence and if backcrossing occurs. We addressed these questions by analysing 209 accessions for chloroplast microsatellites (cp), two nuclear markers (introns of the RPB and LFY genes) and AFLP. For D. complanatum we show a sexual life cycle with alternation of generations: the gametophytic DNA amount is half of that of the sporophyte. With the exception of a single accession all hybrids display one of the two parental cp haplotypes; their frequencies do not differ significantly from a 1:1 ratio. Genotypes of nuclear markers are species-specific, displaying 2/4/1 (RPB) and 1/8/1 alleles (LFY) for the three parents mentioned above; all hybrids have one allele from each parent. All three hybrid taxa apparently represent independent F1 crosses. Hybridisation occurs bidirectional; no evidence for recent backcrossing was found. Asexual reproduction via agamospory is at least rare, since AFLP showed all hybrid plants to be different.


Assuntos
Análise do Polimorfismo de Comprimento de Fragmentos Amplificados , Núcleo Celular/genética , Variação Genética , Hibridização Genética , Lycopodiaceae/genética , Repetições de Microssatélites/genética , Alelos , Briófitas , Cloroplastos/genética , Europa (Continente) , Marcadores Genéticos , Haplótipos , Íntrons/genética , Filogenia , Análise de Componente Principal , Reprodução/genética
16.
Elife ; 72018 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-30516133

RESUMO

Eukaryotes thought to have evolved clonally for millions of years are referred to as ancient asexuals. The oldest group among these are the arbuscular mycorrhizal fungi (AMF), which are plant symbionts harboring hundreds of nuclei within one continuous cytoplasm. Some AMF strains (dikaryons) harbor two co-existing nucleotypes but there is no direct evidence that such nuclei recombine in this life-stage, as is expected for sexual fungi. Here, we show that AMF nuclei with distinct genotypes can undergo recombination. Inter-nuclear genetic exchange varies in frequency among strains, and despite recombination all nuclear genomes have an average similarity of at least 99.8%. The present study demonstrates that AMF can generate genetic diversity via meiotic-like processes in the absence of observable mating. The AMF dikaryotic life-stage is a primary source of nuclear variability in these organisms, highlighting its potential for strain enhancement of these symbionts.


Assuntos
Núcleo Celular/genética , DNA Fúngico/genética , Genoma Fúngico , Micorrizas/genética , Recombinação Genética , Núcleo Celular/ultraestrutura , Citoplasma/genética , Citoplasma/ultraestrutura , Variação Genética , Genótipo , Plantas/microbiologia , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA , Simbiose
17.
BMC Surg ; 18(1): 58, 2018 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-30111320

RESUMO

BACKGROUND: Total colonic aganglionosis (TCA) is a rare variant of Hirschsprung's disease occurring in 3-10% of the cases. Only few studies reported the long-term clinical and metabolic outcomes of patients with TCA. The aim of this study was to evaluate the functional and metabolic long-term outcomes of children undergoing surgical treatment for TCA. METHODS: A 15-year retrospective study was performed. Blood chemistry tests and stool analysis performed at the last follow-up visit were recorded. Height and weight development were assessed using the corresponding percentiles for age. Faecal continence and quality of life were evaluated using a detailed questionnaire. RESULTS: Eleven patients were included in the study. The median age at surgery was 6 months (range: 3-72 months). After histological confirmation, all patients underwent a total colectomy. Ileoanal anastomosis (n = 6), ileorectal anastomosis (n = 1), J-pouch (n = 1) and Duhamel procedure (n = 3) were performed. Temporary ileostomy was closed after a median of 8 weeks in 10/11 patients. After a median follow-up of 78 months (range: 27-199 months), all evaluated patients were continent. Height and weight were appropriate for age in only 5 patients. Vitamin B12 and folic acid serum levels were normal in all examined patients. Ten patients had normal hemoglobin serum levels. Seven patients had low transferrin saturation in serum. Hemoccult tests were negative in all examined patients. Despite complex postoperative courses in some cases, patients and parents showed good overall satisfaction in terms of quality of life. CONCLUSION: The majority of patients reported a good quality of life. This can result from the adaptation of the patients to certain disease states. The failure to thrive seems to be related with the extent of aganglionosis. The inclusion of these patients in interdisciplinary long-term follow-up care, in which pediatric surgeons, gastroenterologists, and dieticians are involved, is essential.


Assuntos
Anastomose Cirúrgica/métodos , Colectomia/métodos , Doença de Hirschsprung/diagnóstico , Ileostomia/métodos , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Período Pós-Operatório , Qualidade de Vida , Reto/cirurgia , Estudos Retrospectivos , Inquéritos e Questionários , Resultado do Tratamento
18.
Pediatr Crit Care Med ; 19(4): 318-327, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29406374

RESUMO

OBJECTIVE: Although infants following major surgery frequently require RBC transfusions, there is still controversy concerning the best definition for requirement of transfusion in the individual patient. The aim of this study was to determine the impact of RBC transfusion on cerebral oxygen metabolism in noncardiac and cardiac postsurgical infants. DESIGN: Prospective observational cohort study. SETTING: Pediatric critical care unit of a tertiary referral center. PATIENTS: Fifty-eight infants (15 after pediatric surgery and 43 after cardiac surgery) with anemia requiring RBC transfusion were included. INTERVENTIONS: RBC transfusion. MEASUREMENTS AND MAIN RESULTS: We measured noninvasively regional cerebral oxygen saturation and microperfusion (relative cerebral blood flow) using tissue spectrometry and laser Doppler flowmetry before and after RBC transfusion. Cerebral fractional tissue oxygen extraction and approximated cerebral metabolic rate of oxygen were calculated. Fifty-eight RBC transfusions in 58 patients were monitored (15 after general surgery, 24 after cardiac surgery resulting in acyanotic biventricular physiology and 19 in functionally univentricular hearts including hypoplastic left heart following neonatal palliation). The posttransfusion hemoglobin concentrations increased significantly (9.7 g/dL vs 12.8 g/dL; 9.7 g/dL vs 13.8 g/dL; 13.1 g/dL vs 15.6 g/dL; p < 0.001, respectively). Posttransfusion cerebral oxygen saturation was significantly higher than pretransfusion (61% [51-78] vs 72% [59-89]; p < 0.001; 58% [35-77] vs 71% [57-88]; p < 0.001; 51% [37-61] vs 58% [42-73]; p = 0.007). Cerebral fractional tissue oxygen extraction decreased posttransfusion significantly 0.37 (0.16-0.47) and 0.27 (0.07-039), p = 0.002; 0.40 (0.2-0.62) vs 0.26 (0.11-0.57), p = 0.001; 0.42 (0.23-0.52) vs 0.32 (0.1-0.42), p = 0.017. Cerebral blood flow and approximated cerebral metabolic rate of oxygen showed no significant change during the observation period. The increase in cerebral oxygen saturation and the decrease in cerebral fractional tissue oxygen extraction were most pronounced in patients after cardiac surgery with a pretransfusion cerebral fractional tissue oxygen extraction greater than or equal to 0.4. CONCLUSION: Following RBC transfusion, cerebral oxygen saturation increases and cerebral fractional tissue oxygen extraction decreases. The data suggest that cerebral oxygenation in postoperative infants with cerebral fractional tissue oxygen extraction greater than or equal to 0.4 may be at risk in instable hemodynamic or respiratory situations.


Assuntos
Anemia/terapia , Circulação Cerebrovascular/fisiologia , Transfusão de Eritrócitos/métodos , Consumo de Oxigênio/fisiologia , Procedimentos Cirúrgicos Operatórios/efeitos adversos , Anemia/etiologia , Estudos de Coortes , Feminino , Hemodinâmica/fisiologia , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Pediátrica , Fluxometria por Laser-Doppler/métodos , Masculino , Estudos Prospectivos , Espectroscopia de Luz Próxima ao Infravermelho/métodos
19.
J Cancer Res Clin Oncol ; 144(5): 925-934, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29464349

RESUMO

PURPOSE: Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma. In 7% of the cases it is localized at the chest wall or intrathoracically. The aim of this study was to analyze the multimodal treatment concepts and outcomes of children suffering from intrathoracic and chest wall RMS treated within three different Cooperative Soft Tissue Sarcoma (CWS) trials and one registry (Soft Tissue Sarcoma Registry, SoTiSaR). METHODS: Data of 51 patients with thoracic RMS enrolled in three different CWS trials (CWS-86, -91, -2002P) and one registry (SoTiSaR) were analyzed retrospectively. Surgery and its influence on outcome were assessed. Median follow-up was 37.5 months (0.9-152.5). RESULTS: Median age of the patients was 8.8 years (range 0-19 years). The 5-year overall survival rate (OS) was 57% (95%-CI 49-65) and the 5-year event-free survival rate (EFS) was 45% (38-52). Thirty-five patients had tumors located at the chest wall (EFS: 51%, 43-59), and 16 patients had intrathoracic tumors (EFS: 26%, 13-39). Seventeen patients with tumors ≤ 5 cm had a better outcome (EFS: 64%, 52-76) compared to patients with tumors larger than 5 cm (EFS: 36%, 27-45). Radiotherapy (RT) significantly improved the survival of patients with alveolar RMS compared to patients with embryonal histology (EFS: 66%, 52-80 vs. 32%, 21-43 p = 0.02). Complete tumor excision during delayed surgery was the main prognostic factor for survival (p = 0.045). CONCLUSION: Thoracic RMS is a rare tumor entity. Completeness of tumor resection significantly improved survival of the patients.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Rabdomiossarcoma/terapia , Sarcoma/terapia , Parede Torácica/patologia , Adolescente , Quimiorradioterapia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Relatório de Pesquisa , Estudos Retrospectivos , Rabdomiossarcoma/cirurgia , Sarcoma/cirurgia , Resultado do Tratamento , Adulto Jovem
20.
Plant J ; 93(3): 515-533, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29237241

RESUMO

The draft genome of the moss model, Physcomitrella patens, comprised approximately 2000 unordered scaffolds. In order to enable analyses of genome structure and evolution we generated a chromosome-scale genome assembly using genetic linkage as well as (end) sequencing of long DNA fragments. We find that 57% of the genome comprises transposable elements (TEs), some of which may be actively transposing during the life cycle. Unlike in flowering plant genomes, gene- and TE-rich regions show an overall even distribution along the chromosomes. However, the chromosomes are mono-centric with peaks of a class of Copia elements potentially coinciding with centromeres. Gene body methylation is evident in 5.7% of the protein-coding genes, typically coinciding with low GC and low expression. Some giant virus insertions are transcriptionally active and might protect gametes from viral infection via siRNA mediated silencing. Structure-based detection methods show that the genome evolved via two rounds of whole genome duplications (WGDs), apparently common in mosses but not in liverworts and hornworts. Several hundred genes are present in colinear regions conserved since the last common ancestor of plants. These syntenic regions are enriched for functions related to plant-specific cell growth and tissue organization. The P. patens genome lacks the TE-rich pericentromeric and gene-rich distal regions typical for most flowering plant genomes. More non-seed plant genomes are needed to unravel how plant genomes evolve, and to understand whether the P. patens genome structure is typical for mosses or bryophytes.


Assuntos
Evolução Biológica , Bryopsida/genética , Cromossomos de Plantas , Genoma de Planta , Centrômero , Cromatina/genética , Metilação de DNA , Elementos de DNA Transponíveis , Variação Genética , Polimorfismo de Nucleotídeo Único , Recombinação Genética , Sintenia
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