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1.
Clin Immunol ; 264: 110263, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38795901

RESUMO

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is a curative treatment for certain inborn errors of immunity. METHODS: A 17-year retrospective cohort study was conducted on 40 immunodeficient patients who underwent HSCT. RESULTS: The median age at transplant was 11.0 months (4.6-61.0). Donors were primarily matched sibling donors (60%). 90% and 85% of patients received conditioning and graft-versus-host disease (GVHD) prophylaxis, respectively. The mean donor chimerism at the last follow-up was 88.6% ± 17.9% (40-100). Median serum immunoglobulin (Ig) G level, CD4+ T-cell count, and CD19+ B-cell count were 11.7 g/L (9.2-13.6), 0.9 × 109/L 0.6-1.2), and 0.5 × 109/L (0.2-0.7), respectively. 29 patients (72.5%) received intravenous immunoglobulins (IVIG) therapy, with a median duration of 10.0 months (4.0-14.0). The median post-transplant follow-up was 6.5 years (IQR:1.4-11.5). The 10-year overall probability of survival is 84.3%. CONCLUSION: Monitoring IRC is important in ensuring adequate disease-free survival.


Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Reconstituição Imune , Humanos , Transplante de Células-Tronco Hematopoéticas/métodos , Masculino , Feminino , Estudos Retrospectivos , Lactente , Doença Enxerto-Hospedeiro/imunologia , Pré-Escolar , Omã , Condicionamento Pré-Transplante/métodos , Imunoglobulinas Intravenosas/uso terapêutico , Imunoglobulina G/sangue , Linfócitos B/imunologia
2.
J Hand Surg Am ; 2024 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-38180412

RESUMO

PURPOSE: The aim of this prospective, randomized, controlled, double-blinded pilot study was to determine the rates of post-traumatic osteoarthritis and assess joint space width in the presence or absence of a single intra-articular injection of corticosteroid after an acute, intra-articular distal radius fracture (DRF). METHODS: Forty patients received a single, intra-articular, radiocarpal joint injection of 4 mg of dexamethasone (DEX) (n = 19) or normal saline placebo (n = 21) within 2 weeks of a surgically or nonsurgically treated intra-articular DRF. The primary outcome measure was minimum radiocarpal joint space width (mJSW) on noncontrast computed tomography scans at 2 years postinjection. Secondary outcomes were obtained at 3 months, 6 months, 1 year, and 2 years postinjection and included Disabilities of the Arm, Shoulder, and Hand; Michigan Hand Questionnaire; Patient-Rated Wrist Evaluation; wrist range of motion; and grip strength. RESULTS: At 2-year follow-up, there was no difference in mean mJSW between the DEX group (2.2 mm; standard deviation, 0.6; range, 1.4-3.2) and the placebo group (2.3 mm; standard deviation, 0.7; range, 0.9-3.9). Further, there were no differences in any secondary outcome measures at any postinjection follow-up interval. CONCLUSIONS: Radiocarpal joint injection of corticosteroid within 2 weeks of an intra-articular DRF does not appear to affect the development of post-traumatic osteoarthritis within 2 years follow-up in a small pilot cohort. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic II.

3.
J Clin Immunol ; 43(2): 452-465, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36324046

RESUMO

PURPOSE: Early identification of inborn errors of immunity (IEIs) is crucial due to the significant risk of morbidity and mortality. This study aimed to describe the genetic causes, clinical features, and survival rate of IEIs in Omani patients. METHODS: A prospective study of all Omani patients evaluated for immunodeficiency was conducted over a 17-year period. Clinical features and diagnostic immunological findings were recorded. Targeted gene testing was performed in cases of obvious immunodeficiency. For cases with less conclusive phenotypes, a gene panel was performed, followed by whole-exome sequencing if necessary. RESULTS: A total of 185 patients were diagnosed with IEIs during the study period; of these, 60.5% were male. Mean ages at symptom onset and diagnosis were 30.0 and 50.5 months, respectively. Consanguinity and a family history of IEIs were present in 86.9% and 50.8%, respectively. Most patients presented with lower respiratory infections (65.9%), followed by growth and development manifestations (43.2%). Phagocytic defects were the most common cause of IEIs (31.9%), followed by combined immunodeficiency (21.1%). Overall, 109 of 132 patients (82.6%) who underwent genetic testing received a genetic diagnosis, while testing was inconclusive for the remaining 23 patients (17.4%). Among patients with established diagnoses, 37 genes and 44 variants were identified. Autosomal recessive inheritance was present in 81.7% of patients with gene defects. Several variants were novel. Intravenous immunoglobulin therapy was administered to 39.4% of patients and 21.6% received hematopoietic stem cell transplantation. The overall survival rate was 75.1%. CONCLUSION: This study highlights the genetic causes of IEIs in Omani patients. This information may help in the early identification and management of the disease, thereby improving survival and quality of life.


Assuntos
Síndromes de Imunodeficiência , Qualidade de Vida , Masculino , Humanos , Feminino , Estudos Prospectivos , Testes Genéticos , Fenótipo , Consanguinidade , Síndromes de Imunodeficiência/genética
4.
Ther Drug Monit ; 44(4): 527-534, 2022 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34990437

RESUMO

BACKGROUND: Busulfan (Bu) is an alkylating drug used in many preparative regimens before hematopoietic stem cell transplantation (HSCT). It is conjugated in the liver mainly by glutathione S-transferase isoenzyme A1-1 ( GSTA1 ). Genetic polymorphisms in these isoenzymes may affect the pharmacokinetics of Bu and the clinical outcomes of HSCT. This study aimed to assess the impact of glutathione S-transferase ( GST ) genetic polymorphisms on the clearance of Bu and the clinical outcomes of patients undergoing HSCT. METHODS: This single-center retrospective study included patients who received IV Bu before HSCT at Sultan Qaboos University Hospital (SQUH), Oman from January 2003 to October 2016. Genotyping for polymorphisms was performed for GSTM1 , GSTT1 , GSTA1 , and GSTP1 . Each GST polymorphism was analyzed for its impact on Bu clearance and HSCT outcomes. RESULTS: A total of 135 patients were included. The mean Bu clearance was 3.7 ± 0.98 mL/min/kg. Patients with GSTA1 A-513G heterozygosity (AG) were found to have a higher incidence of graft loss ( P = 0.006). Homozygous double null of GSTM1 and GSTT1 was associated with a higher incidence of acute graft versus host disease ( P = 0.04). Double non-null GSTM1 and GSTT1 and non-null GSTM1 increased the risk of mortality ( P = 0.034 and 0.021, respectively). CONCLUSIONS: GST genotyping before HSCT may predict HSCT outcomes. The results of this preliminary retrospective study need to be confirmed in a larger prospective study.


Assuntos
Bussulfano , Transplante de Células-Tronco Hematopoéticas , Bussulfano/farmacocinética , Bussulfano/uso terapêutico , Genótipo , Glutationa Transferase/genética , Transplante de Células-Tronco Hematopoéticas/métodos , Humanos , Polimorfismo Genético/genética , Estudos Prospectivos , Estudos Retrospectivos , Condicionamento Pré-Transplante/métodos
5.
Instr Course Lect ; 71: 163-181, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35254781

RESUMO

Distal radius fractures are common. Volar plating is a valuable approach for many fractures. There are also difficult fractures that require careful attention to the exposure and technique for successful volar plating. Classic approaches, such as external fixation with additional percutaneous reduction and pinning or bone graft and fragment-specific fixation, remain valuable especially when volar plating is not applicable. The main objectives are to review the intricacies of volar plating and the use of external fixation with distal radius fractures. This also includes an understanding of the associated injuries that are present with these fractures and the expected outcome of these injuries relative to the distal radius fracture. First, the challenges with volar locked plating as well as many tips and tricks to help with reduction and stabilization of these fractures are reviewed. Second, the benefits and tips and tricks of external fixation are discussed. Finally, the management of common combined injuries with distal radius fractures is reviewed.


Assuntos
Fraturas do Rádio , Placas Ósseas , Fixação de Fratura , Fixação Interna de Fraturas/métodos , Humanos , Fraturas do Rádio/cirurgia , Resultado do Tratamento
6.
Biol Blood Marrow Transplant ; 26(6): 1119-1123, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32088369

RESUMO

Familial hemophagocytic lymphohistiocytosis (FHLH) is a potentially fatal disorder of immune regulation. Management includes chemotherapy followed by hematopoietic stem cell transplantation (HSCT). T cell depleted (TCD)-haploidentical HSCT could be an option for those patients who do not have HLA matching family donor. The objective of this study was to report on the outcome of TCD-haploidentical HSCT in patients with FHLH who underwent transplantation at Sultan Qaboos University Hospital (SQUH). This is a retrospective report on 12 patients with FHLH who received TCD- haploidentical HSCT at SQUH between August 2010 and December 2018. Epidemiologic characteristics and details on the transplantation procedures and complications were collected from patients' electronic records. Twelve patients with FHLH received TCD-haploidentical HSCT after a myeloablative conditioning regimen composed of treosulfan/thiotepa/fludarabine/anti-thymocyte globulin and rituximab. The mean age at transplantation was 11.67 ± 8 months. All patients had Perforin gene mutations, except 1 patient who had an UNC-13D mutation. Most patients received TCRαß+/CD19+ depleted grafts for faster immune reconstitution. Seven patients (58.3%) have been cured with a mean follow-up duration of 3.44 years. Four patients died of multiorgan failure secondary to gram-negative sepsis. One patient had primary graft failure, and 2 patients had mild graft-versus-host disease. Two patients had Pneumocystis carinii pneumonia, 2 had adenoviremia, and 9 patients had cytomegalovirus (CMV) viremia. Among patients with CMV viremia, 2 had evidence of disease (retinitis, enteritis). All patients with CMV viremia were treated successfully with foscarnet pre-engraftment and ganciclovir postengraftment, respectively. TCD-haploidentical HSCT could be a viable option for patients with FHLH who do not have HLA matching family donors. Infectious complications are the leading cause of death in that setting. CMV viremia was the most frequently encountered infectious complication.


Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Linfo-Histiocitose Hemofagocítica , Humanos , Linfo-Histiocitose Hemofagocítica/terapia , Omã , Estudos Retrospectivos , Linfócitos T , Condicionamento Pré-Transplante , Resultado do Tratamento
7.
Transfus Apher Sci ; 59(3): 102727, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31948917

RESUMO

BACKGROUND: Granulocyte colony stimulating factor (G-CSF) given for 4-6 days is commonly used for mobilization of allogeneic stem cell donors. The primary objective of this study is to compare the yield of stem cell mobilization, assessed using a surrogate endpoint of CD34+ cell count, between Day 4 and Day 6. STUDY DESIGN AND METHODS: In this retrospective study we included all allogeneic stem cell donors mobilized with G-CSF for 6 days from January 2003 until October 2015 in the bone marrow transplantation unit at a tertiary academic center. Of 106 donor records reviewed, 84 were with available data and selected for the study. RESULTS: We included 84 donors with median age and weight of 19 years and 60 kg respectively. The median Day 4 WBC and CD34+ cell count were 37.4 × 109/L and 54 × 106/L respectively; while the median Day 6 WBC and CD34+ cell count were 44.4 × 109/L and 86 × 106/L respectively with a statistically significant difference from Day 4 (P < 0.001). In the multivariable model, there were no significant impact of donor's age (P = 0.215), weight (P = 0.108), height (P = 0.428) and mean corpuscular volume (P = 0.263) on the difference in CD34+ cell yield. However, the donor's blood group AB predicated a significantly higher difference (P = 0.036). CONCLUSION: Six days of G-CSF mobilization achieves higher CD34+ cell count than 4 days in allogeneic stem cell donors especially in donors with blood group AB, albeit both approaches give count higher than the successful collection threshold.


Assuntos
Mobilização de Células-Tronco Hematopoéticas/métodos , Transplante Homólogo/métodos , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de Tempo , Doadores de Tecidos , Adulto Jovem
8.
Biol Blood Marrow Transplant ; 25(12): 2330-2337, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31002990

RESUMO

The development of hematopoietic stem cell transplantation (HSCT) programs can face significant challenges in most developing countries because such endeavors must compete with other government health care priorities, including the delivery of basic services. Although this is may be a limiting factor, these countries should prioritize development of the needed expertise to offer state-of-the-art treatments, including transplantation, by providing financial, technological, legal, ethical, and other needed support. This would prove beneficial in providing successful programs customized to the needs of their population and potentially provide long-term cost savings by circumventing the need for their citizens to seek care abroad. The costs of establishing an HSCT program and the costs of the HSCT procedure itself can be substantial barriers in developing countries. In addition, socioeconomic factors intrinsic to specific countries can influence access to HSCT, patient eligibility for HSCT, and timely utilization of HSCT center capabilities. This report describes recommendations from the Worldwide Network for Blood and Marrow Transplantation for establishing HSCT programs, with a specific focus on developing countries, and identifies challenges and opportunities for providing this specialized procedure in resource-constrained settings.


Assuntos
Países em Desenvolvimento , Transplante de Células-Tronco Hematopoéticas , Sociedades Médicas , Condicionamento Pré-Transplante , Humanos , Guias de Prática Clínica como Assunto , Fatores Socioeconômicos , Transplante Autólogo , Transplante Homólogo
10.
J Clin Immunol ; 36(8): 785-792, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27699572

RESUMO

PURPOSE: Primary immunodeficiency (PID) diseases are rare, complex medical disorders that often are overlooked in clinical settings. There are emerging reports of PID from Middle Eastern populations. This study describes the features of PID patients in a tertiary care setting in Oman and compares them with regional and worldwide reports. METHOD: Sultan Qaboos University Hospital (SQUH) is an academic tertiary care-level hospital for specialized healthcare, including PID patients. At the time of diagnosis, patients' sociodemographics, clinical features, laboratory investigations, and management were entered in electronic form. This study included patients seen between August 2005 and July 2015. RESULTS: One hundred forty patients were registered with a minimum estimated population prevalence of 7.0/100,000. The male/female ratio was 1.6:1, the median age of onset of symptoms was 8 months, and diagnosis was 21 months with a delay of 13 months. Family history was positive in 44 %, consanguinity was present in 76 %, death of a previous sibling was present in 36 %, and there was an overall mortality in 18 %, with an 85 % probability of survival 10 years following diagnosis. The most common type of immunodeficiency was phagocytic disorders (35.0 %), followed by predominantly antibody disorders (20.7 %), combined immunodeficiency (17.8 %), other well-defined PID syndromes (15.0 %), immune dysregulation syndromes (3.5 %), complement deficiencies (3.5 %), and unclassified immunodeficiency (4.2 %). The commonest presenting infection was pneumonia (47.1 %). CONCLUSION: PID is not a rare condition in Oman. The prevalence is in concordance with reports from the region but higher than in Western populations. The findings of the current study would help to improve the awareness and management of, and policy making for PID.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/epidemiologia , Criança , Pré-Escolar , Consanguinidade , Feminino , Hospitais Universitários , Humanos , Lactente , Masculino , Omã/epidemiologia , Prevalência , Centros de Atenção Terciária
11.
J Pediatr Hematol Oncol ; 36(4): e248-50, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24072239

RESUMO

BACKGROUND: Chediak-Higashi syndrome (CHS) is a rare, autosomal, recessive lysosomal disorder with hematological and immunologic abnormalities; however, stem-cell transplantation from a matched or related donor may be curative. Many mutations of the CHS1/LYST gene have been reported to date. We report a novel nonsense mutation of the CHS1/LYST gene in 3 Omani patients. METHODS AND RESULTS: Three patients from 2 different families presented with clinical and laboratory features of CHS and a history of death of a previous sibling because of a severe illness, suggestive of the accelerated phase of CHS. Giant granules were present in the myeloid cell lines. Before the stem-cell transplant, the first patient underwent gene sequencing of all exons of the lysosome trafficking regulator (CHS1/LYST) gene and revealed a nonsense mutation in exon 5 (c.925C>T, p.R309X). Subsequently, upon presentation, the second and third patients' direct gene sequencing of exon 5 revealed the same mutation. CONCLUSIONS: We report a nonsense mutation in exon 5 (c.925C>T, p.R309X). This supports the allelic heterogeneity of CHS and is in line with most reported mutation types that lead to a truncated protein. Identification of the mutation type will facilitate timely diagnosis, management, and family counseling for those with affected children in Oman.


Assuntos
Síndrome de Chediak-Higashi/genética , Códon sem Sentido , Éxons , Proteínas de Transporte Vesicular/genética , Aloenxertos , Síndrome de Chediak-Higashi/terapia , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Omã , Transplante de Células-Tronco
12.
J Am Acad Orthop Surg ; 31(15): e550-e560, 2023 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-37332224

RESUMO

The scaphoid is the most commonly fractured carpal bone. With high clinical suspicion and negative radiographs, expedient evaluation by CT or MRI has been recommended. When treating nondisplaced or minimally displaced scaphoid waist and distal pole fractures, immobilization below the elbow without inclusion of the thumb is an option. Comparatively, early surgical intervention for nondisplaced or minimally displaced scaphoid waist fractures allows for quicker return of function, but with increased risk of surgical complications and no long-term outcomes differences compared with cast immobilization. For most patients with such fractures, consideration for aggressive conservative treatment involving 6 weeks of immobilization with CT assessment to guide the need for continued casting, surgical intervention, or mobilization is advocated. Determination of union is best done with a CT scan at 6 weeks and at least 50% continuous trabecular bridging across the fracture site deemed sufficient to begin mobilization. Nonsurgical and surgical management of scaphoid fractures requires a thorough understanding of fracture location, fracture characteristics, and patient-specific factors to provide the best healing opportunity of this notoriously difficult fracture and return the patient to full function.


Assuntos
Fraturas Ósseas , Traumatismos da Mão , Osso Escafoide , Traumatismos do Punho , Humanos , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/cirurgia , Consolidação da Fratura , Osso Escafoide/cirurgia , Traumatismos do Punho/cirurgia , Fixação Interna de Fraturas , Moldes Cirúrgicos
13.
Oman Med J ; 38(6): e567, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38283210

RESUMO

Objectives: To estimate the incidence, risk factors, and outcome of cytomegalovirus (CMV) infection during the first year following hematopoietic stem cell transplant (HSCT) among Omani patients. Methods: This retrospective study included allogenic HSCT recipients between January 2006 and December 2018. We investigated the possible factors associated with CMV infection and CMV impact on one-year mortality. Results: Among 556 recipients of allogenic HSCT, 308 (55.4%) were male, the median age was 12 years, and 366 (65.8%) had benign conditions. One-year after transplants, the prevalence of CMV infection was 59.4%, and that of CMV disease was 1.8%. Multivariate analyses revealed significant relationships between CMV infection and haploidentical transplant (p = 0.006), graft versus host disease (p = 0.013), myeloablative conditioning (p = 0.001), and patient age ≥ 12 years (p < 0.001). CMV infection was associated with an increased risk of one-year mortality (p = 0.001). One-year overall mortality was 8.3%. Conclusions: The incidence of CMV infection in this Omani cohort was comparable with earlier findings, but the disease incidence and overall mortality were lower. Older age, haploidentical transplant, myeloablative conditioning, and graft versus host disease were significantly associated with a higher risk of CMV infection. In addition, CMV infection was associated with an increased risk of overall mortality in the first year post-transplant. Our findings support early initiation of preemptive therapy at low-level CMV viremia.

14.
J Orthop Case Rep ; 11(4): 80-84, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34327172

RESUMO

OBJECTIVES: Compression of the ulnar nerve in Guyon's canal results in ulnar tunnel syndrome (UTS). The patient may present with sensory and motor deficits (zone 1), motor deficit (zone 2), or sensory deficit (zone 3). The most common causes of UTS include ganglion cysts, idiopathic ulnar nerve compression, occupational pressure neuritis (repetitive compression), prolonged compression, hook of hamate fractures, and arterial thrombus or aneurysm. CASE REPORT: We report an atypical cause of UTS involving pigmented villonodular synovitis (PVNS) with a review of the literature. Surgical decompression of the ulnar nerve at Guyon's canal has resulted in resolving motor weakness and improved interosseous strength at latest follow-up. CONCLUSION: The most common causes of UTS are ganglion, occupational neuritis, prolonged compression, and ulnar artery thrombi/aneurysms. However, other more rare causes such as PVNS should be considered in the appropriate patient.

15.
Int J Infect Dis ; 106: 155-159, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33781906

RESUMO

OBJECTIVES: Critical illness in COVID-19 is attributed to an exaggerated host immune response. Since neutrophils are the major component of innate immunity, we hypothesize that the quantum of activated neutrophils in the blood may predict an adverse outcome. DESIGN: In a retrospective study of 300 adult patients with confirmed COVID-19, we analyzed the impact of neutrophil activation (NEUT-RI), interleukin-6 (IL-6) and the established clinical risk factors of age, diabetes, obesity and hypertension on the clinical outcome. RESULTS: Significant predictors of the need for mechanical ventilation were NEUT-RI (Odds Ratio (OR) = 1.22, P < 0.001), diabetes (OR = 2.56, P = 0.00846) and obesity (OR = 6.55, P < 0.001). For death, the significant predictors were NEUT-RI (OR = 1.14, P = 0.00432), diabetes (OR = 4.11, P = 0.00185) and age (OR = 1.04, P = 0.00896). The optimal cut-off value for NEUT-RI to predict mechanical ventilation and death was 52 fluorescence intensity units (sensitivity 44%, specificity 88%, area under the curve 0.67 and 44%, 86%, 0.64, respectively). CONCLUSION: This finding supports an aberrant neutrophil response in COVID-19, likely due to uncontained viral replication, tissue hypoxia and exacerbated inflammation, introduces a novel biomarker for rapid monitoring and opens new avenues for therapeutic strategies.


Assuntos
COVID-19/imunologia , COVID-19/fisiopatologia , Ativação de Neutrófilo , Neutrófilos/imunologia , Neutrófilos/patologia , Adulto , Biomarcadores/sangue , Morte , Feminino , Citometria de Fluxo/instrumentação , Humanos , Imunidade Inata , Inflamação/sangue , Masculino , Pessoa de Meia-Idade , Imagem Óptica/instrumentação , Respiração Artificial , Estudos Retrospectivos , Fatores de Risco , SARS-CoV-2/imunologia
16.
Transplant Cell Ther ; 27(10): 881.e1-881.e5, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34293519

RESUMO

Autosomal recessive complete INF-γ receptor-2 (IFN-γR2) deficiency is a rare, potentially fatal primary immune deficiency that predisposes to disseminated mycobacterial disease. Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment. Few patients have been reported so far. Here we report the outcomes of HSCT in 7 patients with IFNγ-R2 deficiency from 3 Omani families who underwent HSCT at Sultan Qaboos University Hospital in Oman. All patients were homozygous for the same mutation (c.-175_+102del) of INFGR2. Four patients underwent HLA-matched related donor (MRD) HSCT (3 siblings and 1 parent), and the other 3 underwent T cell-depleted (TCD) haploidentical HSCT from a family donor. The stem cell source was peripheral blood stem cells in 5 patients and bone marrow in 2 patients. Five patients received myeloablative conditioning, and 2 had reduced-intensity conditioning. The overall survival rate was 85.7%, and the event-free survival was 71.4%. One of the 7 patients died on day +31 with gram-negative sepsis, and the other 6 patients were cured from their original disease (median follow-up of 78.5 months). One patient had primary graft failure following a TCD-haploidentical transplantation and underwent successful retransplantation from another haploidentical relative. Three patients received a donor lymphocyte infusion for mixed chimerism. Our findings indicate that HSCT is curative for complete IFN-γR2 deficiency. In this cohort from Oman, 85.7% of the patients were cured with either an MRD or a TCD haploidentical transplantation. Genetic analysis at birth in children of high-risk couples permits early diagnosis, prevents the morbidity of BCG vaccination, and can enable safer and more successful transplantation outcomes.


Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Proteínas da Membrana Bacteriana Externa , Doença Enxerto-Hospedeiro/genética , Humanos , Omã , Porinas , Receptores Virais , Condicionamento Pré-Transplante
17.
Transfus Apher Sci ; 42(2): 169-75, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20110194

RESUMO

Several centers are now performing allogeneic hematopoietic stem cell transplantation (HSCT) in the World Health Organization Eastern Mediterranean Region (EMRO) but the availability is still limited due to high cost and the need for multi-disciplinary team and an advanced laboratory support. Special issues including compatible donor availability, potential for alternate donor programs, differences in pattern of disease, pre-HSCT general status particularly for patients with BM failure, high sero-positivity for CMV, Hepatitis B and C infection and specific observations about GVHD with its relation to genetically homogeneous community are discussed. A total of 17 HSCT programs (performing five or more HSCTs annually) exist in nine countries of the EM region. Only six programs are currently reporting to EBMT or IBMTR. A total of 7617 HSCTs including 5701 allogeneic HSCTs have been performed. Due to low HSCT team density (1.5583 teams/10 million inhabitants versus 14.4333 in Europe) and very low HSCT team distribution (0.2729 teams/10,000 sq km area versus <1 to 6 teams in Europe) only 70.8% of total population has access to such a program in EM region. GNI/capita had no clear association with low HSCT activity; however improvement in infrastructure and establishment of EM regional HSCT registry need prioritization.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Organização Mundial da Saúde , Transplante de Células-Tronco Hematopoéticas/economia , Humanos , Região do Mediterrâneo , Organização Mundial da Saúde/economia , Organização Mundial da Saúde/organização & administração
18.
Instr Course Lect ; 59: 525-38, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20415403

RESUMO

The management of acute trauma to the upper extremity includes the urgent treatment of injuries and the timing and choice of surgical stabilization and reconstruction. To evaluate and treat severe upper extremity trauma, the orthopaedic surgeon should understand the principles of emergency department and operating theater management of commonly seen traumatic injuries to the distal humerus, elbow, forearm, wrist, and hand. A review of the principles for treating these complex injuries, including principles of soft-tissue coverage, will aid surgeons in achieving the goal of providing optimal treatment for their patients.


Assuntos
Traumatismos do Braço/cirurgia , Lesões no Cotovelo , Fraturas Intra-Articulares/diagnóstico , Fraturas Intra-Articulares/cirurgia , Luxações Articulares/diagnóstico , Luxações Articulares/cirurgia , Traumatismos do Braço/diagnóstico , Traumatismos do Braço/etiologia , Transplante Ósseo , Fixação de Fratura , Humanos , Fraturas Intra-Articulares/etiologia , Luxações Articulares/etiologia , Salvamento de Membro
19.
J Hand Surg Am ; 35(6): 900-4, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20478664

RESUMO

PURPOSE: Lateral tilt (radially inclined) radiographs are useful after volar locked plate fixation of distal radius fractures to assess the radiocarpal joint, subchondral bone congruity, and volar tilt. The purpose of our study was to define the reliability of our positioning method using the patient's opposite hand to position the injured wrist to obtain an inclined lateral radiograph with good visualization of the subchondral bone. METHODS: A retrospective review identified adult patients who had a unilateral distal radius fracture treated with a volar locked plate and who had an initial postoperative lateral tilt radiograph using the contralateral hand to position the injured wrist. Intraoperative fluoroscopic images were reviewed to confirm the ability to see the extra-articular placement of all hardware. The inclined lateral wrist radiograph was obtained by positioning the injured wrist at a height determined by the contralateral hand being placed under the ulnar wrist crease. The wrist was then supported there with firm blocks in all cases. The radiographic beam was directed perpendicular to the horizontal cassette. Two reviewers (authors) then blindly reviewed postoperative radiographs to determine whether the radiocarpal joint and subchondral bone were visualized and whether any screws or pegs appeared to cross the radiocarpal joint. An acceptable lateral tilt radiograph was defined as good visualization of the subchondral bone while allowing only the most radial peg to appear to cross the joint. We also placed 15 normal volunteers into the lateral tilt position, using their opposite hand, to measure the inclined forearm angle. RESULTS: A total of 24 wrists (24 patients) were identified and 23 patients had lateral tilt radiographs with acceptable visualization of the subchondral bone. The concordance of the subchondral bone visualization was 100% (95% confidence interval, 85.5% to 100%). The mean angle with lateral tilt positioning was 18 degrees from horizontal (range, 15 degrees to 23 degrees; standard deviation, 2.4 degrees). CONCLUSIONS: Using the contralateral hand to position the lateral inclined view, our lateral tilt position produced radiographs with reliable visualization of the distal radius subchondral bone in 96% of our cases. Visualization of the subchondral bone in the region of the radial aspect of the scaphoid fossa requires more tilt than is achieved with this technique.


Assuntos
Fraturas do Rádio/cirurgia , Articulação do Punho/diagnóstico por imagem , Adulto , Idoso , Placas Ósseas , Parafusos Ósseos , Humanos , Pessoa de Meia-Idade , Postura , Radiografia/métodos , Estudos Retrospectivos
20.
Hand (N Y) ; 15(1): 125-130, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-30009627

RESUMO

Background: Distal radius fractures are common, and the trend in fixation has included the use of locked volar plating. The duration of splinting required after surgery and the effect splinting has upon outcome of the wrist are not clear. Our aim was to compare outcome of patients treated with early versus late motion protocol after volar plating. Methods: Thirty-three patients with distal radius fractures were prospectively and randomly enrolled into an early versus late motion study including volar plating of the distal radius fracture. Early motion included an active and passive wrist motion protocol by 14 days after surgery and delayed motion was initiated at 5 weeks. Fractures were defined as intra-articular and extra-articular, and those with, and without, ulnar styloid fracture. Motion and outcome scores (Disabilities of the Arm, Shoulder and Hand [DASH]/patient-rated wrist evaluation [PRWE]), and strength were measured through 1 year. Results: Wrist motion, DASH, and PRWE scores were only significantly different at 6 weeks with no significant differences at any later time points up to 1 year. One patient had complex regional pain syndrome (CRPS) and one had adhesive capsulitis in the late motion group. Conclusions: Following locked volar plating of distal radius fractures, early motion favored earlier return of motion along with lower DASH, PRWE, and pain scores within first 6 weeks. Although the late motion group had delayed recovery, there were no long-term significant differences in motion, strength, outcome, or pain scores. The 2 cases with complications (CRPS and adhesive capsulitis) did occur in the late motion group and may implicate late motion with these problems.


Assuntos
Fixação Interna de Fraturas/métodos , Fraturas do Rádio/fisiopatologia , Fraturas do Rádio/cirurgia , Contenções/estatística & dados numéricos , Fatores de Tempo , Placas Ósseas , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Placa Palmar/fisiopatologia , Placa Palmar/cirurgia , Período Pós-Operatório , Estudos Prospectivos , Amplitude de Movimento Articular , Resultado do Tratamento , Punho/fisiopatologia , Punho/cirurgia
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