Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 48
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Indian J Ophthalmol ; 68(1): 174-176, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31856502

RESUMO

We describe an effective technique for the management of graft-host interface haze associated with interface deposits after Descemet-stripping automated endothelial keratoplasty (DSAEK) with bimanual irrigation/aspiration. A Tan marginal dissector was used to separate the graft from the stroma in the nasal two-thirds of the graft-host interface. The aspiration handpiece was inserted in the interface through the nasal side-port corneal incision and a separate irrigation tip was placed in the anterior chamber (AC) through the temporal corneal paracentesis. Meticulous rinsing of the two-thirds of the interface area and the AC was performed. At the end of the procedure, air was injected into the AC to float the donor graft against the host stromal bed and facilitate graft adherence. Postoperative anterior segment optical coherence tomography and slit-lamp examination confirmed elimination of the interface haze-deposits and a well-attached graft. An improvement in visual acuity was noted.

2.
Injury ; 50 Suppl 5: S29-S31, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31706589

RESUMO

The treatment of severely injured extremities still presents a very difficult task for trauma orthopaedic surgeons. Despite improvements in technology and surgical/microsurgical techniques, sometimes a limb must be amputated, otherwise severe and potentially fatal complications may develop. There is a well-established belief that severe open fractures should be left open. However, Godina proved wound coverage in the first 72 h (after an injury) to be safe and to bring good final results. So early wound cover (no later than one week after an injury) with well vascularized free flaps became the gold standard. Yet for many patients (some of whom have serious health problems), operative treatment needs to be postponed when they arrive to specialized microsurgical departments for microsurgical reconstruction much later than one week after incurring an injury.  As the definite wound cover period from one week to 3 months seems to be hazardous, especially due to the potential of infection, we developed a safe, original flap technique that prevents infection and covers important structures such as exposed bones, tendons, nerves and vessels. We named this technique the "close-open-close free flap technique". It enables difficult wound cover in any biological phase of the wound, by combining complete flap cover first, with the removal of stitches from one side of the flap after 6-12 h. This technique works very well for borderline cases as well; where even after a complete debridement, dead tissue still remains in the wound - making wound cover very dangerous. Closing completely severe open fractures with free (or pedicled) flaps and removing the stitches on one side after 6-12 h, enables orthopaedic surgeons to safely cover any kind of wound in any biological phase of the wound. Additional debridements, lavages and reconstructions can easily be performed under the flap and after the danger of a serious infection has disappeared, definitive wound closure can be carried out.

3.
Int Med Case Rep J ; 12: 237-241, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31440105

RESUMO

Purpose: To report the findings of anterior segment optical coherence tomography (AS-OCT) and in vivo confocal microscopy (IVCM) in two patients with peripheral hypertrophic subepithelial corneal degeneration (PHSD). Methods: Case series by restrospective chart review and imaging analysis of AS-OCT and IVCM. Results: Slit lamp examination of the two patients revealed a bilateral subepithelial-elevated fibrous tissue of the superior-nasal quadrant, as well as inferior-nasal in one of the patients. Best corrected visual acuity ranged from 20/25 to 20/15. AS-OCT showed continuous, homogenous, well-demarked hyperreflective subepithelial band associated with hyperreflectivity in the anterior stroma. IVCM demonstrated normal epithelial cell morphology and arrangement and a fibrous structure subepithelial and in the anterior stroma. Conclusion: AS-OCT and IVCM can facilitate the diagnosis of PHSD and differentiate it from other corneal entities that present peripheral opacifications.

5.
Eur J Ophthalmol ; : 1120672119853105, 2019 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-31148469

RESUMO

BACKGROUND: To describe the successful management of a massive iridoschisis after penetrating keratoplasty for keratoconus, using the nd:YAG punctures. CASE PRESENTATION: A 73-year-old male patient has undergone four penetrating keratoplasties for keratoconus. Nine months after the last surgery, patient presented with massive iridoschisis involving the visual axis. Patient was successfully treated with nd:YAG laser iridopunctures. CONCLUSION: Massive iridoschisis could be a potential complication of keratoconus, especially after penetrating keratoplasty. This condition can be potentially treated with nd:YAG iridopunctures.

6.
Front Pediatr ; 7: 55, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31024866

RESUMO

In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy (GT), it is important to link SCID phenotype to the underlying genetic disease. In western countries, X-linked interleukin 2 receptor gamma chain (IL2RG) and adenosine deaminase (ADA) deficiency SCID are two of the most common types of SCID and can be treated by GT. As a challenge, both IL2RG and ADA genes are highly polymorphic and a gene-based diagnosis may be difficult if the variant is of unknown significance or if it is located in non-coding areas of the genes that are not routinely evaluated with exon-based genetic testing (e.g., introns, promoters, and the 5'and 3' untranslated regions). Therefore, it is important to extend evaluation to non-coding areas of a SCID gene if the exon-based sequencing is inconclusive and there is strong suspicion that a variant in that gene is the cause for disease. Functional studies are often required in these cases to confirm a pathogenic variant. We present here two unique examples of X-linked SCID with variable immune phenotypes, where IL2R gamma chain expression was detected and no pathogenic variant was identified on initial genetic testing. Pathogenic IL2RG variants were subsequently confirmed by functional assay of gamma chain signaling and maternal X-inactivation studies. We propose that such tests can facilitate confirmation of suspected cases of X-linked SCID in newborns when initial genetic testing is inconclusive. Early identification of pathogenic IL2RG variants is especially important to ensure eligibility for gene therapy.

7.
Pediatr Transplant ; 23(4): e13423, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31012242

RESUMO

BACKGROUND: The prognosis of children who relapse after allogeneic hematopoietic cell transplant (alloHCT) for myeloid malignancies remains poor. PROCEDURE: To describe the safety and feasibility of post-transplant azacitidine for relapse prevention, we retrospectively reviewed the charts of 18 children undergoing alloHCT for myeloid malignancies. RESULTS: There were 15 evaluable patients since three patients did not receive planned azacitidine due to early relapse or TRM. Azacitidine (32 mg/m2 /dose for 5 days, in 28-day cycles as tolerated up to 1 year post-transplant) was started at a median of 66 days post-transplant (range 42-118). Two-thirds (10/15) of patients received eight or more cycles. Five patients stopped therapy early, only one attributable to toxicity. Mild myelosuppression was the most common reason for cycle delays. Dose modifications were made in three patients. There were three relapses, two of which occurred in patients in CR2 and one in CR1, with a median follow-up of 20 months (range 12.5-28), and no TRM in patients who received azacitidine. CONCLUSIONS: Post-transplant azacitidine in children is safe and feasible, with most patients successfully receiving all planned cycles. Despite the limitations of a small cohort, low relapse incidence suggests a potential benefit in disease control that warrants further investigation.

8.
Pediatr Blood Cancer ; 66(1): e27481, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30318867

RESUMO

Relapse remains the most common cause of treatment failure after hematopoietic cell transplantation for acute myeloid leukemia. Inability to achieve hematologic complete remission has been a barrier to transplant for patients with refractory disease. We describe six children with refractory myeloid disease undergoing transplant in chemotherapy-induced aplasia, as a strategy to facilitate curative therapy in refractory patients. Clofarabine- or high-dose cytarabine-based chemotherapy regimens were used to achieve marrow aplasia, followed by reduced-intensity conditioning and allogeneic transplant before hematologic recovery. Long-term disease control was achieved in five, with one transplant-related mortality, suggesting the feasibility of this approach.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Doença Enxerto-Hospedeiro/terapia , Transplante de Células-Tronco Hematopoéticas/métodos , Leucemia Mieloide Aguda/terapia , Síndromes Mielodisplásicas/terapia , Recidiva Local de Neoplasia/terapia , Aplasia Pura de Série Vermelha/terapia , Adolescente , Criança , Pré-Escolar , Citarabina/administração & dosagem , Feminino , Seguimentos , Doença Enxerto-Hospedeiro/etiologia , Humanos , Leucemia Mieloide Aguda/patologia , Masculino , Síndromes Mielodisplásicas/patologia , Recidiva Local de Neoplasia/patologia , Prognóstico , Aplasia Pura de Série Vermelha/induzido quimicamente , Estudos Retrospectivos , Condicionamento Pré-Transplante , Transplante Homólogo , Vidarabina/administração & dosagem
9.
Int Ophthalmol ; 39(4): 943-948, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29557084

RESUMO

PURPOSE: To introduce the use of corneal epithelial mapping by anterior segment optical coherence tomography (AS-OCT) as an ancillary testing for the identification of areas of loose epithelial adherence in recurrent corneal erosion syndrome (RCES), and the subsequent treatment of the latter with anterior stromal puncture (ASP). METHODS: Five patients were presented with RCES following traumatic corneal abrasions. Following resolution of acute episodes, AS-OCT epithelial mapping was performed revealing in all patients an area of increased epithelial thickness (hot spot) corresponding to the site of loose attachment of the epithelium to the epithelial basement membrane. ASP to the area of epithelial thickening, as delineated by the epithelial map, was performed. RESULTS: To date, none of the patients has shown any signs of disease recurrence over a period ranging from 6 to 20 months following the application of epithelial map-guided ASP. CONCLUSIONS: AS-OCT epithelial mapping can reveal the exact area of loose epithelial adherence in RCES. Hence, epithelial mapping can delineate the target area for treatment with ASP and may decrease the high failure rates of ASP.


Assuntos
Segmento Anterior do Olho/cirurgia , Distrofias Hereditárias da Córnea/cirurgia , Substância Própria/cirurgia , Epitélio Anterior/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Punções , Adulto , Segmento Anterior do Olho/diagnóstico por imagem , Substância Própria/diagnóstico por imagem , Epitélio Anterior/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia de Coerência Óptica/métodos
10.
Ther Clin Risk Manag ; 14: 1387-1390, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30122938

RESUMO

Purpose: The aim of this study was to describe intraoperative optical coherence tomography (OCT) as an adjunctive device for peripheral synechiolysis in a post-penetrating keratoplasty patient. Case report: A 75-year-old female patient presented for follow-up 9 months after a penetrating keratoplasty in the left eye. She presented with anterior peripheral synechiae involving the graft for three clock hours. Peripheral native cornea appeared totally opaque. Synechiolysis was planned, and intraoperative OCT allowed us to detect nonclinically visible synechiae and to confirm complete synechiolysis immediately after surgery. No postoperative complication was recorded. Two months after surgery, the graft was clear and anterior segment OCT did not reveal any residual synechiae or recurrence. Conclusion: Intraoperative OCT is useful to overcome the difficulties in visualization through clinically opaque corneas, as it gives real-time feedback upon the anatomy, the extension of the remaining lesions, and the success of the surgery.

11.
Blood ; 132(17): 1737-1749, 2018 10 25.
Artigo em Inglês | MEDLINE | ID: mdl-30154114

RESUMO

The Primary Immune Deficiency Treatment Consortium (PIDTC) performed a retrospective analysis of 662 patients with severe combined immunodeficiency (SCID) who received a hematopoietic cell transplantation (HCT) as first-line treatment between 1982 and 2012 in 33 North American institutions. Overall survival was higher after HCT from matched-sibling donors (MSDs). Among recipients of non-MSD HCT, multivariate analysis showed that the SCID genotype strongly influenced survival and immune reconstitution. Overall survival was similar for patients with RAG, IL2RG, or JAK3 defects and was significantly better compared with patients with ADA or DCLRE1C mutations. Patients with RAG or DCLRE1C mutations had poorer immune reconstitution than other genotypes. Although survival did not correlate with the type of conditioning regimen, recipients of reduced-intensity or myeloablative conditioning had a lower incidence of treatment failure and better T- and B-cell reconstitution, but a higher risk for graft-versus-host disease, compared with those receiving no conditioning or immunosuppression only. Infection-free status and younger age at HCT were associated with improved survival. Typical SCID, leaky SCID, and Omenn syndrome had similar outcomes. Landmark analysis identified CD4+ and CD4+CD45RA+ cell counts at 6 and 12 months post-HCT as biomarkers predictive of overall survival and long-term T-cell reconstitution. Our data emphasize the need for patient-tailored treatment strategies depending upon the underlying SCID genotype. The prognostic significance of CD4+ cell counts as early as 6 months after HCT emphasizes the importance of close follow-up of immune reconstitution to identify patients who may need additional intervention to prevent poor long-term outcome.


Assuntos
Linfócitos T CD4-Positivos/imunologia , Transplante de Células-Tronco Hematopoéticas , Reconstituição Imune/imunologia , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/mortalidade , Imunodeficiência Combinada Severa/terapia , Genótipo , Humanos , Contagem de Linfócitos , Estudos Retrospectivos
12.
Biol Blood Marrow Transplant ; 24(10): 2040-2046, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29933069

RESUMO

We enrolled 150 patients in a prospective multicenter study of children with acute myeloid leukemia undergoing hematopoietic stem cell transplantation (HSCT) to compare the detection of measurable residual disease (MRD) by a "difference from normal" flow cytometry (ΔN) approach with assessment of Wilms tumor 1 (WT1) gene expression without access to the diagnostic specimen. Prospective analysis of the specimens using this approach showed that 23% of patients screened for HSCT had detectable residual disease by ΔN (.04% to 53%). Of those patients who proceeded to transplant as being in morphologic remission, 10 had detectable disease (.04% to 14%) by ΔN. The disease-free survival of this group was 10% (0 to 35%) compared with 55% (46% to 64%, P < .001) for those without disease. The ΔN assay was validated using the post-HSCT specimen by sorting abnormal or suspicious cells to confirm recipient or donor origin by chimerism studies. All 15 patients who had confirmation of tumor detection relapsed, whereas the 2 patients with suspicious phenotype cells lacking this confirmation did not. The phenotype of the relapse specimen was then used retrospectively to assess the pre-HSCT specimen, allowing identification of additional samples with low levels of MRD involvement that were previously undetected. Quantitative assessment of WT1 gene expression was not predictive of relapse or other outcomes in either pre- or post-transplant specimens. MRD detected by ΔN was highly specific, but did not identify most relapsing patients. The application of the assay was limited by poor quality among one-third of the specimens and lack of a diagnostic phenotype for comparison.


Assuntos
Citometria de Fluxo , Transplante de Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda , Condicionamento Pré-Transplante , Doadores não Relacionados , Proteínas WT1/sangue , Adolescente , Adulto , Aloenxertos , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Humanos , Lactente , Recém-Nascido , Leucemia Mieloide Aguda/sangue , Leucemia Mieloide Aguda/mortalidade , Leucemia Mieloide Aguda/terapia , Masculino , Neoplasia Residual , Transplante Homólogo
13.
Biol Blood Marrow Transplant ; 24(8): 1651-1656, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29753157

RESUMO

This multicenter study evaluated a treosulfan-based regimen in children and young adults with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) undergoing allogeneic hematopoietic cell transplant (HCT). Forty patients with median age 11 years (range, 1 to 19) underwent allogeneic HCT for AML in first (n = 18), second (n = 11), and third or greater remission (n = 3) or MDS (n = 8) using bone marrow (n = 25), peripheral blood stem cells (n = 5), or cord blood (n = 9). The regimen consisted of body surface area (BSA)-based treosulfan 10 g/m2/day (BSA ≤ .5 m2), 12 g/m2/day (BSA > .5 to 1.0 m2), or 14 g/m2/day (BSA > 1.0 m2) on days -6 to -4; fludarabine 30 mg/m2/day on days -6 to -2; and a single fraction of 200 cGy total body irradiation on day -1. Graft-versus-host disease (GVHD) prophylaxis included tacrolimus and methotrexate for marrow and peripheral blood stem cell and cyclosporine/mycophenolate mofetil for cord blood. One-year overall survival, disease-free survival, and nonrelapse mortality were 80%, 73%, and 3%, respectively. One-year relapse was 38% for AML and 13% for MDS. No serious organ toxicities were observed. All 37 assessable patients engrafted. Cumulative incidences of grades II to IV acute GVHD and chronic GVHD were 22% and 40%, respectively. BSA-based treosulfan dosing resulted in predictable area under the curve and maximum concentration, which is required for dosing without measuring individual pharmacokinetic parameters. Observed differences in pharmacokinetics did not impact disease control or regimen toxicity. This BSA-based treosulfan regimen resulted in excellent engraftment and disease-free survival and minimal toxicity and transplant-related mortality (3%) in children and young adults with AML and MDS.


Assuntos
Bussulfano/análogos & derivados , Transplante de Células-Tronco Hematopoéticas/métodos , Leucemia Mieloide Aguda/terapia , Síndromes Mielodisplásicas/terapia , Irradiação Corporal Total , Adolescente , Bussulfano/administração & dosagem , Bussulfano/uso terapêutico , Criança , Pré-Escolar , Feminino , Sobrevivência de Enxerto , Doença Enxerto-Hospedeiro/prevenção & controle , Transplante de Células-Tronco Hematopoéticas/mortalidade , Humanos , Lactente , Leucemia Mieloide Aguda/mortalidade , Masculino , Síndromes Mielodisplásicas/mortalidade , Análise de Sobrevida , Transplante Homólogo , Vidarabina/administração & dosagem , Vidarabina/análogos & derivados , Vidarabina/uso terapêutico , Adulto Jovem
14.
Cornea ; 37(6): 785-788, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29543661

RESUMO

PURPOSE: To describe the findings of in vivo confocal microscopy (IVCM) and anterior segment optical coherence tomography (AS-OCT) in a case of linear interstitial keratitis (IK), a very rare entity of unknown etiology. METHODS: IVCM and AS-OCT were used in the case of the a 23-year-old patient with recurrent unilateral linear IK. RESULTS: On AS-OCT, inflammation appeared confined to the anterior part of the stroma. Similar to color photography, inflammation appeared beaded. On IVCM, there was microcystic epithelial edema, dense fibrosis of the anterior stroma, highly reflective spiculated structures, and disorganization of the stromal architecture. CONCLUSIONS: Although linear IK appeared as localized anterior stromal inflammation on AS-OCT, panstromal inflammation was revealed by IVCM.


Assuntos
Ceratite/patologia , Substância Própria/patologia , Humanos , Masculino , Microscopia Confocal/métodos , Tomografia de Coerência Óptica/métodos , Adulto Jovem
15.
J Allergy Clin Immunol ; 141(2): 704-717.e5, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28601685

RESUMO

BACKGROUND: Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be mild or severe and life-threatening. Hematopoietic stem cell transplantation (HSCT) has been used in some patients with more severe symptoms to treat and cure the disorder. However, the outcome of HSCT for this disorder is not well established. OBJECTIVE: We sought to aggregate the worldwide experience of HSCT in patients with GOF-STAT1 mutations and to assess outcomes, including donor engraftment, overall survival, graft-versus-host disease, and transplant-related complications. METHODS: Data were collected from an international cohort of 15 patients with GOF-STAT1 mutations who had undergone HSCT using a variety of conditioning regimens and donor sources. Retrospective data collection allowed the outcome of transplantation to be assessed. In vitro functional testing was performed to confirm that each of the identified STAT1 variants was in fact a GOF mutation. RESULTS: Primary donor engraftment in this cohort of 15 patients with GOF-STAT1 mutations was 74%, and overall survival was only 40%. Secondary graft failure was common (50%), and posttransplantation event-free survival was poor (10% by 100 days). A subset of patients had hemophagocytic lymphohistiocytosis before transplant, contributing to their poor outcomes. CONCLUSION: Our data indicate that HSCT for patients with GOF-STAT1 mutations is curative but has significant risk of secondary graft failure and death.


Assuntos
Mutação com Ganho de Função , Predisposição Genética para Doença , Doença Enxerto-Hospedeiro/genética , Doença Enxerto-Hospedeiro/mortalidade , Transplante de Células-Tronco Hematopoéticas , Fator de Transcrição STAT1/genética , Aloenxertos , Intervalo Livre de Doença , Feminino , Doença Enxerto-Hospedeiro/imunologia , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Fator de Transcrição STAT1/imunologia , Taxa de Sobrevida
16.
Vector Borne Zoonotic Dis ; 17(12): 813-820, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29064333

RESUMO

Tick-borne encephalitis (TBE) is a zoonotic flaviviral infection that is a growing public health concern in European countries. The aims of this research were to detect and characterize tick-borne encephalitis virus (TBEV) in Ixodes ricinus ticks at presumed natural foci in Serbia, and to determine seroprevalence of TBEV IgG antibodies in humans and animals. A total of 500 I. ricinus ticks were examined for the presence of TBEV by real-time RT-PCR, and conventional nested PCR and sequencing. To determine TBEV seroprevalence, 267 human sera samples were collected, as were 200 sera samples from different animal species. All sera samples were examined by ELISA for the presence of anti-TBEV antibodies. To exclude cross-reactivity, all sera samples were tested for anti-West Nile virus (WNV) antibodies and all human sera samples were also tested for anti-Usutu virus antibodies by ELISA. Results of this preliminary study indicated TBEV activity in Serbia at two microfoci. Several decades after the previous documentation of TBEV in Serbia, we have demonstrated the presence of TBEV in I. ricinus questing nymphs (prevalence 2% and 6.6% at the two different localities) and anti-TBEV antibodies in humans (seroprevalence 0.37%). Moreover, we show for the first time TBEV seroprevalence in several animal species in Serbia, including dogs (seroprevalence 17.5%), horses (5%), wild boars (12.5%), cattle (2.5%), and roe deer (2.5%). None of the goats tested was positive for anti-TBEV IgG antibodies. TBEV isolate from I. ricinus tick in this study belonged to the Western European subtype. To understand the true public health concern in Serbia, detailed epidemiological, clinical, virological, and acarological research are required. This is important for implementation of effective control measures to reduce the incidence of TBE in Serbia.


Assuntos
Anticorpos Antivirais/imunologia , Vírus da Encefalite Transmitidos por Carrapatos/isolamento & purificação , Encefalite Transmitida por Carrapatos/veterinária , Ixodes/virologia , Animais , Vírus da Encefalite Transmitidos por Carrapatos/genética , Encefalite Transmitida por Carrapatos/epidemiologia , Encefalite Transmitida por Carrapatos/virologia , Humanos , Filogenia , Sérvia/epidemiologia , Estudos Soroepidemiológicos , Testes Sorológicos
17.
Blood ; 130(25): 2718-2727, 2017 12 21.
Artigo em Inglês | MEDLINE | ID: mdl-29021228

RESUMO

The Primary Immune Deficiency Treatment Consortium (PIDTC) is enrolling children with severe combined immunodeficiency (SCID) to a prospective natural history study. We analyzed patients treated with allogeneic hematopoietic cell transplantation (HCT) from 2010 to 2014, including 68 patients with typical SCID and 32 with leaky SCID, Omenn syndrome, or reticular dysgenesis. Most (59%) patients were diagnosed by newborn screening or family history. The 2-year overall survival was 90%, but was 95% for those who were infection-free at HCT vs 81% for those with active infection (P = .009). Other factors, including the diagnosis of typical vs leaky SCID/Omenn syndrome, diagnosis via family history or newborn screening, use of preparative chemotherapy, or the type of donor used, did not impact survival. Although 1-year post-HCT median CD4 counts and freedom from IV immunoglobulin were improved after the use of preparative chemotherapy, other immunologic reconstitution parameters were not affected, and the potential for late sequelae in extremely young infants requires additional evaluation. After a T-cell-replete graft, landmark analysis at day +100 post-HCT revealed that CD3 < 300 cells/µL, CD8 < 50 cells/µL, CD45RA < 10%, or a restricted Vß T-cell receptor repertoire (<13 of 24 families) were associated with the need for a second HCT or death. In the modern era, active infection continues to pose the greatest threat to survival for SCID patients. Although newborn screening has been effective in diagnosing SCID patients early in life, there is an urgent need to identify validated approaches through prospective trials to ensure that patients proceed to HCT infection free. The trial was registered at www.clinicaltrials.gov as #NCT01186913.


Assuntos
Transplante de Células-Tronco Hematopoéticas/métodos , Reconstituição Imune , Imunodeficiência Combinada Severa/terapia , Pré-Escolar , Feminino , Genótipo , Doença Enxerto-Hospedeiro/tratamento farmacológico , Doença Enxerto-Hospedeiro/etiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Reconstituição Imune/genética , Lactente , Recém-Nascido , Masculino , Triagem Neonatal , Estudos Prospectivos , Fatores de Risco , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/mortalidade , Análise de Sobrevida , Doadores de Tecidos
18.
Microb Ecol ; 73(2): 368-377, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27628741

RESUMO

Bordetella bronchiseptica is a well-known etiological agent of kennel cough in dogs and cats and one of the two causative agents of atrophic rhinitis, a serious swine disease. The aim of the study was to isolate B. bronchiseptica bacteriophages from environmental samples for the first time. A total of 29 phages from 65 water samples were isolated using the strain ATCC 10580 as a host. The lytic spectra of the phages were examined at 25 and 37 °C, using 12 strains of B. bronchiseptica. All phages were able to plaque on 25.0 % to 41.7 % of the strains. The selected phages showed similar morphology (Siphoviridae, morphotype B2), but variation of RFLP patterns and efficacy of plating on various strains. The partial genome sequence of phage vB_BbrS_CN1 showed its similarity to phages from genus Yuavirus. Using PCR, it was confirmed that the phages do not originate from the host strain, and environmental origin was additionally confirmed by the analysis of host genome sequence in silico and plating heated and unheated samples in parallel. Accordingly, this is the first isolation of B. bronchiseptica phages from environment and the first isolation and characterization of phages of B. bronchiseptica belonging to family Siphoviridae.


Assuntos
Bacteriófagos/isolamento & purificação , Bordetella bronchiseptica/virologia , Meio Ambiente , Siphoviridae/isolamento & purificação , Bacteriófagos/genética , Bacteriófagos/crescimento & desenvolvimento , Bacteriófagos/ultraestrutura , Sequência de Bases , Bordetella bronchiseptica/genética , DNA Bacteriano/genética , DNA Viral/genética , Genes Virais , Genoma Viral , Temperatura Alta , Concentração de Íons de Hidrogênio , Microscopia Eletrônica de Transmissão , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Siphoviridae/genética , Siphoviridae/crescimento & desenvolvimento , Siphoviridae/ultraestrutura , Águas Residuárias/virologia , Microbiologia da Água
19.
Vector Borne Zoonotic Dis ; 16(10): 631-5, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27574731

RESUMO

Lyme borreliosis is the most common tick-borne infectious disease in Eurasia. Borrelia miyamotoi is the only known relapsing fever Borrelia group spirochete transmitted by Ixodes species. The aim of this study was to investigate the presence of Lyme Borrelia spp. and relapsing fever Borrelia spp. in Ixodes ricinus ticks collected from dogs and the vegetation from different parts of Vojvodina, Serbia. A total of 71 Ixodes ricinus ticks were collected and screened for the presence of Lyme Borrelia spp. group and relapsing fever Borrelia spp. by real-time PCR for the Borrelia flagellin B (flaB) gene followed by DNA sequencing of PCR products. Species identification was verified by PCR of the outer surface protein A (ospA) gene for Lyme Disease Borrelia spp. and by PCR of the glycerophosphodiester phosphodiesterase (glpQ) gene for relapsing fever Borrelia spp. Lyme Borrelia spp. were found in 15/71 (21.13%) of the ticks evaluated and included B. luisitaniae (11.3%), B. afzelii (7%), B. valaisiana (1.4%), and B. garinii (1.4%). Borrelia miyamotoi, from the relapsing fever Borrelia complex, was found, for the first time in Serbia, in one (1.4%) nymph collected from the environment. Co-infections between Borrelia species in ticks were not detected. These results suggest that the dominance of species within B. burgdorferi s.l. complex in I. ricinus ticks may vary over time and in different geographic regions. Further systematic studies of Borrelia species in vectors and reservoir hosts are needed to understand eco-epidemiology of these zoonotic infections and how to prevent human infection in the best way.


Assuntos
Grupo Borrelia Burgdorferi/isolamento & purificação , Carrapatos/microbiologia , Animais , DNA Bacteriano/genética , Doenças do Cão/epidemiologia , Doenças do Cão/parasitologia , Cães , Reação em Cadeia da Polimerase , Sérvia/epidemiologia , Infestações por Carrapato/epidemiologia , Infestações por Carrapato/parasitologia , Infestações por Carrapato/veterinária
20.
Ophthalmology ; 123(4): 898-907, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26854035

RESUMO

PURPOSE: To collect comprehensive data on choroidal and ciliary body melanoma (CCBM) in children and to validate hypotheses regarding pediatric CCBM: children younger than 18 years, males, and those without ciliary body involvement (CBI) have more favorable survival prognosis than young adults 18 to 24 years of age, females, and those with CBI. DESIGN: Retrospective, multicenter observational study. PARTICIPANTS: Two hundred ninety-nine patients from 24 ocular oncology centers, of whom 114 were children (median age, 15.1 years; range, 2.7-17.9 years) and 185 were young adults. METHODS: Data were entered through a secure website and were reviewed centrally. Survival was analyzed using Kaplan-Meier analysis and Cox proportional hazards regression. MAIN OUTCOME MEASURES: Proportion of females, tumor-node-metastasis (TNM) stage, cell type, and melanoma-related mortality. RESULTS: Cumulative frequency of having CCBM diagnosed increased steadily by 0.8% per year of age between 5 and 10 years of age and, after a 6-year transition period, by 8.8% per year from age 17 years onward. Of children and young adults, 57% and 63% were female, respectively, which exceeded the expected 51% among young adults. Cell type, known for 35% of tumors, and TNM stage (I in 22% and 21%, II in 49% and 52%, III in 30% and 28%, respectively) were comparable for children and young adults. Melanoma-related survival was 97% and 90% at 5 years and 92% and 80% at 10 years for children compared with young adults, respectively (P = 0.013). Males tended to have a more favorable survival than females among children (100% vs. 85% at 10 years; P = 0.058). Increasing TNM stage was associated with poorer survival (stages I, II, and III: 100% vs. 86% vs. 76%, respectively; P = 0.0011). By multivariate analysis, being a young adult (adjusted hazard rate [HR], 2.57), a higher TNM stage (HR, 2.88 and 8.38 for stages II and III, respectively), and female gender (HR, 2.38) independently predicted less favorable survival. Ciliary body involvement and cell type were not associated with survival. CONCLUSIONS: This study confirms that children with CCBM have a more favorable survival than young adults 18 to 25 years of age, adjusting for TNM stage and gender. The association between gender and survival varies between age groups.


Assuntos
Neoplasias da Coroide/epidemiologia , Corpo Ciliar/patologia , Melanoma/epidemiologia , Neoplasias Uveais/epidemiologia , Adolescente , Criança , Pré-Escolar , Neoplasias da Coroide/mortalidade , Neoplasias da Coroide/terapia , Europa (Continente)/epidemiologia , Enucleação Ocular , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Oncologia/organização & administração , Melanoma/mortalidade , Melanoma/terapia , Recidiva Local de Neoplasia/diagnóstico , Procedimentos Cirúrgicos Oftalmológicos , Oftalmologia/organização & administração , Fotoquimioterapia , Radioterapia , Estudos Retrospectivos , Taxa de Sobrevida , Neoplasias Uveais/mortalidade , Neoplasias Uveais/terapia , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA