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1.
Harefuah ; 158(8): 540-544, 2019 Aug.
Artigo em Hebraico | MEDLINE | ID: mdl-31407545

RESUMO

INTRODUCTION: Many Jewish doctors in the Holocaust - in ghettos, concentration and extermination camps and in the forests - displayed courage, valor and sacrifice in the resistance front against the Nazis and their allies. The scope of their actions was broad: active resistance in the underground and rebellion movements or in the lines of partisans in the forests; hiding and saving Jews; smuggling medicines; preparing false medical records; secretly conducting surgery and other treatments; refusing the demands to submit lists of patients and workers, thus sentencing them to death; staying by the sick and the needy in the ghettos, even when they could escape, and many more. All this was done out of truth to their conscience, sometimes even beyond their commitment to the doctor's oath, placing themselves in uncertain situations, in distress, hunger, oppression and humiliation, risking their own lives and those of their families. It is admirable how those degrees of courage, bravery, willpower and sacrifice could develop out of such terrible physical and mental distress. The resistance was an extensive wide-ranging occurrence among the Jewish doctors and not one of just a few individuals. This article presents a number of examples of diverse forms of resistance, of individuals as well as of groups of physicians.


Assuntos
Holocausto , Judeus , Socialismo Nacional , Humanos , Judaísmo , Masculino , Irmãos
2.
Medicine (Baltimore) ; 98(33): e16899, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31415434

RESUMO

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive multisystem disorder characterized by oculocutaneous albinism (OCA) and bleeding diathesis, although it displays both genetic and phenotypic heterogeneity. Several genetic subtypes of HPS have been identified in human; however, the characterizations of HPS type 4 (HPS-4) genotype and phenotype remain unclear. This study was aimed to identify gene mutation responsible for HPS-4 with pulmonary fibrosis (PF).Two Chinese siblings in their 50 s afflicted with OCA and progressive dyspnea were recruited and underwent clinical and genetic examinations. In both patients, chest high-resolution computerized tomography showed severe interstitial PF in bilateral lung fields, and the pulmonary function test indicated restrictive lung disease. A novel homozygous frameshift mutation (NM_022081: c.630dupC; p.A211fs) in the HPS4 gene was identified by whole-exome sequencing analysis followed by Sanger DNA sequencing, and it segregated with the phenotypes. The c.630dupC mutation was not found in unaffected healthy controls. The patients were considered as HPS-4 with interstitial PF and eventually died of respiratory failure.This is the first report on the genotype and clinical phenotype of HPS-4 in China. Our results demonstrate the association between a novel frameshift mutation in HPS4 and severe PF with poor prognosis in HPS is presented.


Assuntos
Mutação da Fase de Leitura , Síndrome de Hermanski-Pudlak/genética , Fibrose Pulmonar Idiopática/genética , Proteínas/genética , Adulto , China , Testes Genéticos , Humanos , Fibrose Pulmonar Idiopática/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Análise de Sequência de DNA , Irmãos
4.
Pan Afr Med J ; 32: 179, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31312293

RESUMO

Introduction: Early diagnosis and treatment of paediatric HIV is key as mortality of untreated patients is very high in the first two years of life, and reaches 80% by four years. Case finding efforts for children especially outside Prevention of mother-to-child transmission (PMTCT) is inadequate. Targeting siblings of index HIV-exposed and infected children is an important way of improving identification and enrolment into care thereby reducing paediatric mortality. The study therefore aimed to determine the prevalence of HIV infection among siblings of HIV positive children in care in Calabar. Methods: This descriptive cross-sectional study was conducted among children aged six weeks to 15 years who are siblings of HIV positive children receiving care. Parental consent and child assent were obtained, the children were tested for HIV at their homes irrespective of their prior test results. Ethical clearance certificates were obtained from the health institutions. Results: Siblings of 401 index patients were tested for HIV, four were positive giving a prevalence rate of 1%. Three hundred and sixty-seven 367(91.5%) had been tested previously while 34(8.5%) never had HIV test. Among the siblings who were HIV positive, 1(0.3%) was a male while 3(0.7%) were females. There were more HIV positive siblings in the 11-15 years age group. Conclusion: All the four HIV positive siblings were from the lower socioeconomic class (p=0.022). The routine screening of siblings of HIV positive children should be sustained with focus on adolescents from the lower socioeconomic class. This will improve early identification and enrolment into care thereby reducing paediatric mortality.


Assuntos
Infecções por HIV/epidemiologia , Transmissão Vertical de Doença Infecciosa/prevenção & controle , Programas de Rastreamento/métodos , Irmãos , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Nigéria/epidemiologia , Prevalência
6.
Zhonghua Xue Ye Xue Za Zhi ; 40(6): 460-466, 2019 Jun 14.
Artigo em Chinês | MEDLINE | ID: mdl-31340617

RESUMO

Objective: To evaluate the outcomes of human leukocyte antigen (HLA) matched unrelated donor hematopoietic stem cell transplantation (MUD-HSCT) for adult acute myeloid leukemia (AML) in a single center. Methods: Consecutive adult AML who received MUD-HSCT in our center from January 2008 to April 2017 were studied retrospectively, comparing with patients undergoing matched sibling donor (MSD) -HSCT in the same period. The rates of overall survival (OS) , disease free survival (DFS) , relapse, non-relapse mortality (NRM) , engraftment, acute and chronic graft-versus-host disease (aGVHD and cGVHD) were analyzed. Results: A total of 247 consecutive cases were enrolled, including 46 patients with MUD-HSCT and 201 with MSD-HSCT. All the patients experienced neutrophil engraftment except for one patient who died early in the MSD group, but the median day of engraftment was longer in the MUD group (15.0 vs 14.0, P=0.017) . The accumulative engraftment rate of platelet was comparable between the two groups (93.5%vs 98.0%, P=0.128) . The accumulative incidences of aGVHD (50.0%vs 46.3%, P=0.421) and cGVHD (37.8%vs 43.0%, P=0.581) were not statistically different between the two groups. Compared with the MSD group, the accumulative NRM rate at+36 months after transplantation was significantly higher in the MUD group (22.0%vs 10.4%, P=0.049) , while the relapse rate was not statistical difference (20.5 vs 28.3%, P=0.189) . Both the 3-year OS (61.6%vs 63.3%, P=0.867) and DFS (57.5%vs 61.6%, P=0.760) were comparable between the two groups. Four independent risk factors were confirmed by the multivariate analysis: patient age ≥45 years old, CR2 or NR before transplantation, a history of extramedullary infiltration and the occurrence of grade Ⅲ-Ⅳ aGVHD. No statistical differences were demonstrated in the survival rate between MUD-and MSD-HSCT in different subgroups. Conclusions: The outcomes, such as GVHD, relapse, OS and DFS, were comparable between MUD-and MSD-HSCT for adult AML, but higher incidence of NRM and longer time to neutrophil engraftment in the MUD group. MUD-HSCT is practical and feasible for adult AML who are lack of MSD.


Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda , Antígenos HLA , Humanos , Leucemia Mieloide Aguda/terapia , Pessoa de Meia-Idade , Estudos Retrospectivos , Irmãos , Doadores não Relacionados
7.
Fa Yi Xue Za Zhi ; 35(3): 319-323, 2019 Jun.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-31282628

RESUMO

Abstract: Objective To investigate the application of the comprehensive use of multiple genetic markers in full and half sibling relationship testing through the identification of a case of suspected sibling relationship. Methods Genomic DNA were extracted from bloodstain samples from 4 subjects (ZHANG-1, ZHANG-2, male; ZHANG-3, ZHANG-4, female). Autosomal STR loci, X-STR, Y-STR loci and polymorphisms of mtDNA HV-Ⅰ and Ⅱwere genotyped by EX20 STR kit, X19 kit, Data Y24 STR kit, and Sanger sequencing, respectively. Results According to autosomal STR based IBS scoring results, full sibling relationships were indicated among ZHANG-2, ZHANG-3 and ZHANG-4, but those were not indicated between ZHANG-1 and ZHANG-2 or ZHANG-3 or ZHANG-4. According to autosomal STR based FSI and HSI, with ITO method and discriminant function method, full sibling relationships among ZHANG-2, ZHANG-3 and ZHANG-4 were indicated, and half sibling relationships between ZHANG-1 and ZHANG-2 or ZHANG-3 or ZHANG-4 were also indicated. X-STR and mtDNA sequencing results showed that all the 4 samples came from a same maternal line, and Y-STR results showed that ZHANG-1 and ZHANG-2 did not come from a same paternal line, which supported the half sibling relationship between ZHANG-1 and ZHANG-2 or ZHANG-3 or ZHANG-4, verified by parental genotype reconstruction based on autosomal STR genotyping. Conclusion For the identification of sibling relationships, it is effective to have reliable results with the mutual verification and support of multiple genetic markers (autosomal STR, sex chromosomal STR and mtDNA sequence) and calculations (IBS, ITO, discriminant function method and family reconstruction).


Assuntos
Genética Forense , Irmãos , Alelos , Cromossomos Humanos Y , Impressões Digitais de DNA , Feminino , Marcadores Genéticos , Genótipo , Humanos , Masculino , Repetições de Microssatélites
8.
Int Arch Allergy Immunol ; 180(1): 37-43, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31207596

RESUMO

BACKGROUND: Increasing evidence suggests a positive association between attention-deficit hyperactivity disorder (ADHD) and atopic diseases. However, the risk of atopic diseases in unaffected siblings of patients with ADHD has not been investigated. OBJECTIVE: To investigate the risk of developing atopic diseases among unaffected siblings of ADHD probands. METHODS: Using data from the Taiwan National Health Insurance Research Database, 20,170 unaffected siblings of patients with ADHD born between 1980 and 2000 and 80,680 age-, birth time-, and residence-matchedcontrols were included in this study. Diagnoses of atopic diseases, including asthma, atopic dermatitis, allergic rhinitis, and allergic conjunctivitis, were ascertained from 1996 or the birth time until the end of 2011. RESULTS: Breslow-Cox proportional hazard regression analyses with adjustment for demographic data showed that compared with the controls, unaffected siblings of patients with ADHD had a higher risk of developing asthma (relative risk [RR], 1.19; 95% confidence interval [CI], 1.15-1.24), atopic dermatitis (RR, 1.10; 95% CI, 1.04-1.16), allergic rhinitis (RR, 1.17; 95% CI, 1.14-1.21), allergic conjunctivitis (RR, 1.13; 95% CI, 1.09-1.17), and any of these atopic diseases (RR, 1.13; 95% CI, 1.10-1.15). CONCLUSION: The unaffected siblings of ADHD probands were more likely to develop atopic diseases compared with the controls, suggesting shared risk factors for both diseases.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Hipersensibilidade Imediata/complicações , Hipersensibilidade Imediata/epidemiologia , Irmãos , Adolescente , Criança , Estudos de Coortes , Feminino , Humanos , Incidência , Masculino , Vigilância da População , Medição de Risco , Fatores de Risco , Taiwan/epidemiologia , Adulto Jovem
9.
Ann Hematol ; 98(9): 2163-2177, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31243569

RESUMO

In allogeneic hematopoietic stem cell transplantation recipients, reactivation of Epstein-Barr virus (EBV) can cause post-transplantation lymphoproliferative disorder (PTLD), which may rapidly progress to multiorgan failure and even death. Development of EBV PTLD correlates very closely with use of anti-thymocyte globulin (ATG) and type of transplant. To assess the incidences and clinical features of EBV DNAemia and PTLD in the setting of stem cell transplantation using unmanipulated G-CSF-primed allogeneic peripheral blood stem cells as graft, we performed a retrospective analysis of stem cell transplantation from HLA-matched sibling donors (MSD-SCT, n = 90) or HLA-haploidentical related donors (HID-SCT, n = 110) in patients with hematological malignancies. All of HID-SCT recipients and 27.8% of MSD-SCT recipients received an ATG-containing conditioning regimen. One-year cumulative incidence of EBV DNAemia was 44.1%, ranging from 4.8% in MSD-SCT recipients not using ATG to 20.0% in MSD-SCT recipients using ATG, and 73.7% in HID-SCT recipients. Risk factors for EBV reactivation included use of ATG (p = 0.008), male donor (p = 0.034), and cytomegalovirus DNAemia (p < 0.001). One-year incidence of EBV PTLD was 11.9%, ranging from 1.8% in recipients of MSD-SCT not using ATG to 4.4% in recipients of MSD-SCT using ATG, and 23.5% in recipients of HID-SCT. Risk factors for PTLD after HID-SCT included in fludarabine-containing conditioning regimen (p = 0.010), cytomegalovirus DNAemia (p = 0.036), and patient's age < 40-yr (p = 0.032). Two-year non-relapse mortality was higher for patients with EBV DNAemia than those without EBV DNAemia (35.8% vs. 15.3%, p = 0.002). One-year relapse-free survival and overall survival among patients with PTLD were 40.2% and 44.9%, respectively, as opposed to 63.4% and 68.4% among patients without PTLD (both p < 0.05). In multivariate analyses, EBV DNAemia predicted a lower risk of relapse (p = 0.025), while PTLD was a marginally significant predictor of relapse (p = 0.092). This study identified patients at risk of EBV reactivation and PTLD after unmanipulated allogeneic peripheral blood stem cell transplantation.


Assuntos
DNA Viral/sangue , Infecções por Vírus Epstein-Barr , Neoplasias Hematológicas , Herpesvirus Humano 4/metabolismo , Transtornos Linfoproliferativos , Transplante de Células-Tronco de Sangue Periférico , Condicionamento Pré-Transplante , Adolescente , Adulto , Aloenxertos , Criança , Intervalo Livre de Doença , Infecções por Vírus Epstein-Barr/sangue , Infecções por Vírus Epstein-Barr/mortalidade , Infecções por Vírus Epstein-Barr/terapia , Feminino , Neoplasias Hematológicas/sangue , Neoplasias Hematológicas/mortalidade , Neoplasias Hematológicas/terapia , Neoplasias Hematológicas/virologia , Humanos , Transtornos Linfoproliferativos/sangue , Transtornos Linfoproliferativos/mortalidade , Transtornos Linfoproliferativos/terapia , Transtornos Linfoproliferativos/virologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Irmãos , Taxa de Sobrevida
10.
Medicine (Baltimore) ; 98(23): e15908, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31169704

RESUMO

RATIONALE: Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome is a very rare multisystem disorder, which shows malformations of the central nervous system, ears, eyes, teeth, and skeleton that was first reported in 1991. Only a few cases that sporadically occurred have been reported worldwide. The research investigating the pathogenesis and patterns of CODAS inheritance is still ongoing. There is no satisfactory treatment for this rare genetic disease yet. Due to the lack of curative medical treatment, rehabilitation could play a major role in treatment for genetic disease. PATIENT CONCERNS: To our best knowledge, the 2 children described in this study are the only CODAS syndromes siblings reported in the world so far. These Korean siblings show highly distinctive features consisting of developmental delay, cataracts, vulnerability to tooth decay, epiphyseal dysplasia, and anomalous ears. DIAGNOSES: CODAS syndrome. INTERVENTIONS: Comprehensive long-term rehabilitation treatment during 5 years. OUTCOMES: We report on the progress of the comprehensive long-term rehabilitation treatment at 5-year follow-up. Their fine motor and language skills development improved similarly to that of same-aged children. We observed the positive effect of rehabilitation on the quality of life. LESSONS: The therapy of genetic disorders is challenging for pediatric neurologists and pediatric physiatrists. We suggest that rehabilitation is the best treatment currently available for this genetic disease that yields satisfactory therapeutic effect.


Assuntos
Anormalidades Craniofaciais/patologia , Anormalidades Craniofaciais/reabilitação , Anormalidades do Olho/patologia , Anormalidades do Olho/reabilitação , Transtornos do Crescimento/patologia , Transtornos do Crescimento/reabilitação , Luxação Congênita de Quadril/patologia , Luxação Congênita de Quadril/reabilitação , Osteocondrodisplasias/patologia , Osteocondrodisplasias/reabilitação , Irmãos , Anormalidades Dentárias/patologia , Anormalidades Dentárias/reabilitação , Criança , Feminino , Humanos , Masculino , Qualidade de Vida , República da Coreia
11.
BMC Neurol ; 19(1): 122, 2019 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-31185936

RESUMO

BACKGROUND: Krabbe disease (also known as globoid cell leukodystrophy) cause by a deficiency of the enzyme ß-galactocerebrosidase (galactosylceramidase, GALC). The deficiency of GALC leads to accumulation of galactosylceramide and psychosine, the latter GALC substrate having a potential role in triggering demyelination. Typically, the disease has an infantile onset, with rapid deterioration in the first few months, leading to death before the age of 2 years. The late onset forms (late-infantile, juvenile, and adult forms) are rare with variable clinical outcomes, presenting spastic paraplegia as the main symptom. CASE PRESENTATION: We recruited a family with two affected individuals. The proband (Patient 1), a 25-year-old male, was presented with slow progressive symptoms, including spastic gait disturbance and vision loss since the 5th year of life. His elder sister (Patient 2), became wheelchair-bound and demented at the age of 22 years. Brain magnetic resonance imaging (MRI) showed increased signal intensity in the white matter along with the involvement of the bilateral corticospinal tracts. GALC deficiency was confirmed by biochemical analysis. DNA sequencing revealed two mutations (c.865G > C: p. G289R and c.136G > T: p. D46Y) in GALC. The clinical characteristics, brain MRI, biochemical and molecular findings led to the diagnosis of Krabbe disease. CONCLUSION: Clinical and neuroimaged signs, positive enzymatic analysis and molecular data converged to definite diagnosis in this neurodegenerative disease.


Assuntos
Galactosilceramidase/deficiência , Galactosilceramidase/genética , Leucodistrofia de Células Globoides/genética , Adulto , Idade de Início , Grupo com Ancestrais do Continente Asiático/genética , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Mutação , Linhagem , Irmãos , Adulto Jovem
12.
J Autism Dev Disord ; 49(8): 3401-3411, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31102196

RESUMO

Previous research has found multiplex (MPX) children have an advantage in cognition compared to simplex (SPX) children. However, MPX parent's previous experience with older diagnosed siblings has not been considered. We used a large database sample to investigate the MPX advantage and contribution of birth order. Children from the Autism Genetic Resource Exchange (AGRE) were stratified into first- (MPX1, n  = 152) and second-affected MPX (MPX2, n  = 143), SPX (n  = 111), and only-child SPX (SPXOC, n  = 23) groups. Both MPX groups had higher cognitive scores compared to SPX groups, with no differences between MPX1 and MPX2 groups. No differences were found for autism symptoms or adaptive behaviour. These results suggest parent experience due to birth order is an unlikely contributor to the MPX cognitive advantage.


Assuntos
Adaptação Psicológica , Transtorno Autístico/psicologia , Ordem de Nascimento , Cognição , Pais/psicologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Irmãos/psicologia
13.
Fa Yi Xue Za Zhi ; 35(2): 205-209, 2019 Apr.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-31135116

RESUMO

Abstract: Objective To evaluate the effectiveness of single nucleotide polymorphism (SNP) genoty-ping in combination with identity by state (IBS) strategy in full sibling testing. Methods Thirty-five blood samples were collected from a four-generation family. Ninety autosomal SNPs were genotyped using Precision ID Identity Panel. The distribution of IBS scores for full siblings and other relationships were calculated and compared. The relationships were determined using Fisher discriminant function and threshold method, respectively. Results Based on family members and previous research, 44, 30, 111, 71 and 1 000 pairs of full siblings (FS), grandparent-grandchild (GG), uncle/aunt-nephew/niece (UN), first cousins (FC) and unrelated individuals (UI) were obtained, respectively. The average IBS scores were 148, 130, 132, 124 and 120, respectively. Except for the GG and UN pairs, the distribution differences among the other relationships had statistical significance (P<0.05). The false rates of Fisher discriminant function to determine relationships were 1.3%, 22.3%, 17.0% and 38.7% for FS, GG, UN and FC, respectively. Based on the simulation data, the thresholds t1=128 and t2=141 were recommended to determine full sibling relationships (the false rate ≤0.05%). Conclusion The 90 SNP genetic markers included in the Precision ID Identity Panel meet the testing requirements for full sibling relationships. The threshold method based on IBS has a relatively lower false rate and is more flexible.


Assuntos
Técnicas de Genotipagem/métodos , Polimorfismo de Nucleotídeo Único/genética , Irmãos , Genótipo , Humanos
15.
Parasit Vectors ; 12(1): 260, 2019 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-31126327

RESUMO

BACKGROUND: Chagas disease is a protozoan infection caused by Trypanosoma cruzi. The disease has a chronic course in which 20-30% of the patients would develop progressive damage to the cardiovascular system and the gastrointestinal tube. We are still unable to predict who will develop end-organ damage but there are some acquired and genetic risk factors already known. RESULTS: We reviewed data from 833 patients with serologically confirmed Chagas disease in this retrospective study. Patients were classified as siblings or non-siblings (controls) and the results of pre-treatment blood PCR assay, end-organ damage (cardiac and/or gastrointestinal), and the presence of delayed type hypersensitivity (DTH) skin involvement in patients treated with benznidazole were analyzed. Siblings were grouped by family and we randomly generated groups of 2 or 3 persons with the remaining controls. We classified the results of each variable as concordant or discordant and compared the concordance in these results among the sibling groups with that among control groups. We identified 71 groups of siblings and randomly generated 299 groups of non-related patients. Pre-treatment blood PCR concordance was significantly higher (19%) among siblings compared to controls (P = 0.02), probably due to a higher frequency in pre-treatment positive results. No other statistically significant differences were found. CONCLUSIONS: A significant difference was found in the concordance of pre-treatment blood PCR for T. cruzi among siblings compared to non-related controls.


Assuntos
Doença de Chagas/etnologia , Doença de Chagas/genética , Irmãos , Adulto , Bolívia , Cardiomiopatia Chagásica/diagnóstico , Cardiomiopatia Chagásica/etiologia , Doença de Chagas/complicações , Doença Crônica , Feminino , Gastroenteropatias/diagnóstico , Gastroenteropatias/parasitologia , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Tripanossomicidas/uso terapêutico , Trypanosoma cruzi
16.
Genet Sel Evol ; 51(1): 17, 2019 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-31035934

RESUMO

Catla catla (Hamilton) fertilised spawn was collected from the Halda, Jamuna and Padma rivers in Bangladesh from which approximately 900 individuals were retained as 'candidate founders' of a breeding population. These fish were fin-clipped and genotyped using the DArTseq platform to obtain, 3048 single nucleotide polymorphisms (SNPs) and 4726 silicoDArT markers. Using SNP data, individuals that shared no putative parents were identified using the program COLONY, i.e. 140, 47 and 23 from the Halda, Jamuna and Padma rivers, respectively. Allele frequencies from these individuals were considered as representative of those of the river populations, and genomic relationship matrices were generated. Then, half-sibling and full-sibling relationships between individuals were assigned manually based on the genomic relationship matrices. Many putative half-sibling and full-sibling relationships were found between individuals from the Halda and Jamuna rivers, which suggests that catla sampled from rivers as spawn are not necessarily representative of river populations. This has implications for the interpretation of past population genetics studies, the sampling strategies to be adopted in future studies and the management of broodstock sourced as river spawn in commercial hatcheries. Using data from individuals that shared no putative parents, overall multi-locus pairwise estimates of Wright's fixation index (FST) were low (≤ 0.013) and the optimum number of clusters using unsupervised K-means clustering was equal to 1, which indicates little genetic divergence among the SNPs included in our study within and among river populations.


Assuntos
Carpas/genética , Genética Populacional/métodos , Alelos , Criação de Animais Domésticos , Animais , Ásia Sudeste , Cruzamento/métodos , Cyprinidae/genética , Frequência do Gene/genética , Genômica , Genótipo , Polimorfismo de Nucleotídeo Único/genética , Rios , Irmãos
17.
Zhonghua Xue Ye Xue Za Zhi ; 40(4): 294-300, 2019 Apr 14.
Artigo em Chinês | MEDLINE | ID: mdl-31104440

RESUMO

Objective: To compare the clinical efficacy of umbilical cord blood transplantation (UCBT) and hematopoietic stem cell transplantation from HLA-matched sibling donors (MSD-HSCT) in the treatment of myelodysplastic syndrome-EB (MDS-EB) or acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) . Methods: A cohort of 64 patients (including 38 cases of MDS-EB and 26 cases of AML-MRC) who received UCBT/MSD-HSCT from February 2011 to December 2017 were retrospectively analyzed. Results: ①Compared with MSD-HSCT group, UCBT group had a higher proportion of AML-MRC patients [52.8% (19/36) vs 25.0% (7/28) , P=0.025], and a lower median age [13 (1.5-52) years vs 32 (10-57) years, P=0.001]. ②The engraftment of neutrophils both in UCBT and MSD-HSCT groups on +42 d was 100%, and the median engraftment time was 17.5 (11-31) d and 11.5 (10-20) d, respectively. The engraftment of platelet at +100 d in UCBT group was 91.4%, the median engraftment time was 40 (15-96) d; The engraftment of platelet at +100 d in MSD-HSCT group was 100%, and the median engraftment time was 15 (11-43) d. ③There were no statistically significant differences in terms of the cumulative incidence of Ⅱ-Ⅳ and Ⅲ/Ⅳ aGVHD of 100 d and transplant related mortality (TRM) of 180 d, relapse rate, overall survival (OS) , disease-free survival (DFS) between UCBT and MSD-HSCT groups (P>0.05) . ④The 3-year cumulative incidence of chronic GVHD (cGVHD) and severe chronic GVHD in UCBT group were lower than of MSD-HSCT group [28.3% (95%CI 13.4%-45.3%) vs 67.9% (95%CI 46.1%-82.4%) , P=0.002; 10.3% (95%CI 2.5%-24.8%) vs 50.0% (95%CI 30.0%-67.1%) , respectively, P<0.001]. The cumulative 3-year incidence of GVHD-free and relapse-free survival (GRFS) of UCBT group was significantly higher than of MSD-HSCT group [55.0% (95%CI 36.0%-70.6%) vs 28.6% (95%CI 13.5%-45.6%) , P=0.038]. Conclusion: UCBT could obtain better quality of life after transplantation than MSD-HSCT in treatment of MDS-EB/AML-MRC.


Assuntos
Transplante de Células-Tronco de Sangue do Cordão Umbilical , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda , Síndromes Mielodisplásicas , Adolescente , Adulto , Humanos , Leucemia Mieloide Aguda/terapia , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/terapia , Qualidade de Vida , Estudos Retrospectivos , Irmãos , Adulto Jovem
18.
Zhonghua Xue Ye Xue Za Zhi ; 40(4): 306-311, 2019 Apr 14.
Artigo em Chinês | MEDLINE | ID: mdl-31104442

RESUMO

Objective: To compare the outcomes between haploidentical donor hematopoietic stem cell transplantation (haplo-HSCT) and matched-sibling donor transplantation (MSD-HSCT) for paroxysmal nocturnal hemoglobinuria (PNH) . Methods: The clinical data of 40 PNH patients received HSCT (haplo-HSCT=25, MSD-HSCT=15) from July 2007 to May 2018 were analyzed retrospectively to compare the outcomes between haplo-HSCT and MSD-HSCT groups. Results: There were no differences in terms of gender, age, patients of PNH-AA and median time from diagnosis to transplantation between the 2 groups (P>0.05) . The median values of absolute mononuclear cell counts and CD34+ cells infused were 10.74 (4.80-22.86) ×108/kg and 12.19 (5.14-17.25) ×108/kg (P=0.866) , 3.57 (0.68-7.80) ×106/kg and 4.00 (3.02-8.42) ×106/kg (P=0.151) respectively, in haplo-HSCT and MSD-HSCT groups. All patients attained complete engraftment, no patient occurred graft failure. The median durations for myeloid and platelet engraftment were 12 (range, 9-26) and 11 (range, 7-15) days (P=0.065) , 19 (range, 11-75) and 13 (range, 11-25) days (P=0.027) respectively, in haplo-HSCT and MSD-HSCT groups. During a median follow-up of 26 (4-65) months in haplo-HSCT and 36 (4-132) months in MSD-HSCT groups (P=0.294) , the incidences of grade Ⅰ-Ⅳ acute graft-versus-host disease (aGVHD) were 32.0% and 20.0% (P=0.343) , grade Ⅱ-Ⅳ aGVHD were 16.0%, 13.3% (P=0.759) , chronic GVHD were 30.7% and 24.6% (P=0.418) , moderate-severe chronic GVHD were 12.7% and 7.1% (P=0.522) respectively, in haplo-HSCT and MSD-HSCT groups. The incidences of infection were 32.0% (8/25) and 26.7% (4/15) (P=1.000) respectively, in haplo-HSCT and MSD-HSCT groups. No patients occurred early death and relapse. Three-year estimated overall survival (OS) were (86.5±7.3) % and (93.3 ±6.4) % (P=0.520) , GVHD-free and failure-free survival (GFFS) were (78.3±8.6) % and (92.9±6.9) % (P=0.250) respectively, in haplo-HSCT and MSD-HSCT groups. Conclusion: The preliminary results indicated that haplo-HSCT was a feasible choice for PNH with favorable outcomes, haplo-HSCT and MSD-HSCT produced similar therapeutic efficacy.


Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Hemoglobinúria Paroxística , Hemoglobinúria Paroxística/terapia , Humanos , Estudos Retrospectivos , Irmãos , Resultado do Tratamento
20.
Arch Pediatr ; 26(4): 232-235, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30954365

RESUMO

Ménétrier's disease is a protein-losing gastropathy that is uncommon in childhood. Its symptoms are unspecific, with abdominal pain, vomiting, and edema. Blood tests show hypoproteinemia and hypoalbuminemia, and upper digestive endoscopy reveals giant gastric folds. In children, cytomegalovirus has been identified as a possible cause. Here we describe two sisters presenting with Ménétrier's disease, 2 years apart. This diagnosis should be considered in the presence of hypoalbuminemia in children when a nephrotic syndrome is excluded.


Assuntos
Infecções por Citomegalovirus/diagnóstico , Gastrite Hipertrófica/diagnóstico , Gastrite Hipertrófica/virologia , Criança , Pré-Escolar , Endoscopia Gastrointestinal , Feminino , Humanos , Hipoalbuminemia/etiologia , Irmãos
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