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2.
J Endovasc Ther ; 30(6): 828-837, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-35674459

RESUMO

PURPOSE: To directly compare the clinical outcomes of aortobifemoral bypass surgery (ABF) and endovascular treatment (EVT) for chronic total occlusion (CTO) of the infrarenal abdominal aorta (IAA). MATERIALS AND METHODS: In this retrospective, multicenter study, we used an international database of 436 patients who underwent revascularization for CTO of the IAA between 2007 and 2017 at 30 Asian cardiovascular centers. After excluding 52 patients who underwent axillobifemoral bypass surgery, 384 patients (139 ABFs and 245 EVTs) were included in the analysis. Propensity score-matched analysis was performed to compare clinical results in the periprocedural period and the long-term. RESULTS: Propensity score matching extracted 88 pairs. Procedure time (ABF; 288 [240-345] minutes vs EVT; 159 [100-205] minutes, p<0.001) and length of hospital stay (17 [12-23] days vs 5 [4-13] days, p<0.001) were significantly shorter in the EVT group than in the ABF group, while the proportions of procedural success (98.9% versus 96.6%, p=0.620), complications (9.1% versus 12.3%, p=0.550), and mortality (2.3% versus 3.8%, p=1.000) were not different between the groups. At 1 months, ABI significantly increased more in the ABF group for both in a limb with the lower (0.56 versus 0.50, p=0.018) and the higher (0.49 versus 0.34, p=0.001) baseline ABI, while the change of the Rutherford category was not significantly different between the groups (p=0.590). At 5 years, compared with the EVT group, the ABF group had significantly better primary patency (89.4±4.3% versus 74.8±4.3%, p=0.035) and survival rates (86.9±4.5% versus 66.2±7.5%, p=0.007). However, there was no significant difference between the groups for secondary patency (100.0%±0.0% versus 93.5%±3.9%, p=0.160) and freedom from target lesion revascularization (TLR) (89.3±4.3% vs 77.3±7.3%, p=0.096). CONCLUSION: Even with recent advancements in EVT, primary patency was still significantly better for ABF in CTO of the IAA. However, there was no difference between the groups in terms of secondary patency and freedom from TLR at 5 years. Furthermore, there was no difference in procedural success, complications, mortality, and improvement in the Rutherford classification during the periprocedural period, with significantly shorter procedure time and hospital stay in the EVT group.


Assuntos
Procedimentos Endovasculares , Doenças Vasculares , Enxerto Vascular , Humanos , Aorta Abdominal/diagnóstico por imagem , Aorta Abdominal/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Sistema de Registros , Procedimentos Endovasculares/efeitos adversos , Grau de Desobstrução Vascular , Fatores de Risco
3.
J Nutr Health Aging ; 26(12): 1054-1060, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36519768

RESUMO

BACKGROUND: Polypharmacy, frailty and malnutrition are known predictors of adverse outcomes in dialysis patients. Little has reported about their interaction and composite prognostic values. We aimed to describe the interaction between polypharmacy, frailty, nutrition, hospitalization, and survival in peritoneal dialysis patients. METHODS: In this prospective cohort study, we recruited 573 peritoneal dialysis patients. Drug burden was measured by medication number and daily pill load. Frailty and nutrition were assessed by the validated Frailty Score (FQ) and Subjective Global Assessment (SGA) respectively. All patients were followed for two years. Primary outcome was all-cause mortality. Secondary outcomes were fall and fracture episodes, hospitalization, change in FQ and SGA. RESULTS: At baseline, each patient took 7.5 ± 2.6 medications with 15.5 ± 8.5 tablets per day. Medication number, but not daily pill load predicted baseline FQ (p = 0.004) and SGA (p = 0.03). Over 2 years, there were 69 fall and 1,606 hospitalization episodes. In addition, 148 (25.8%) patients died, while FQ and SGA changed by 0.73 ± 4.23 and -0.07 ± 1.06 respectively in survivors. Medication number (hospitalization: p = 0.02, survival: p = 0.005), FQ (hospitalization: p < 0.001; survival: p = 0.01) predicted hospitalization and survival. Medication number also predicted fall episodes (p = 0.02) and frailty progression (p = 0.002). Daily pill load did not predict any of these outcomes. CONCLUSIONS: Drug burden is high in peritoneal dialysis patients, and it carries important prognostic implication. Medication number but not pill load significantly predicted onset and progression of frailty, malnutrition, fall, hospitalization, and mortality.


Assuntos
Fragilidade , Desnutrição , Diálise Peritoneal , Humanos , Fragilidade/complicações , Polimedicação , Estudos Prospectivos , Diálise Peritoneal/efeitos adversos , Desnutrição/etiologia , Desnutrição/complicações
4.
Aust Vet J ; 100(12): 571-578, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36071674

RESUMO

OBJECTIVE: To determine the incidence and characteristics of wound healing complications after folded flap palatoplasty (FFP). METHODS: Prospective study of 25 dogs that underwent FFP as a component of corrective multilevel surgery for brachycephalic obstructive airway syndrome. Oropharyngeal re-examination was conducted after a minimum of 28 days post-operatively, unless indicated earlier by the onset of clinical signs. RESULTS: Wound healing complications occurred in nine dogs (36%). Minor and major wound complications were diagnosed at a median of 36 days (1.5-51 days) post-operatively. Eight dogs had major wound complications, four of which showed no associated clinical signs. Two patterns of major wound complications were observed: incisional dehiscence (ID) with caudal retraction of the soft palate mucosa and development of a full-thickness defect (FTD) in the centre of the soft palate. Revision of the soft palate surgery was performed in five dogs, failing again in one dog with ID. Clinical signs resolved in symptomatic dogs after revision surgery to close FTD. CONCLUSION: In this study, wound healing complications were common after FFP and were not associated with significant clinical deterioration. Further research is necessary to determine the value and timing of routine post-operative oropharyngeal examination for assessment of soft palate healing after FFP as well as the indication for and success of approaches to the management of wound healing complications. The two distinct patterns of FFP failure recognised may provide insight into the underlying causes and lead to refinements in folded flap palatoplasty technique.


Assuntos
Craniossinostoses , Doenças do Cão , Demência Frontotemporal , Cães , Animais , Estudos Prospectivos , Doenças do Cão/cirurgia , Craniossinostoses/veterinária , Palato Mole/cirurgia , Complicações Pós-Operatórias/veterinária , Cicatrização , Estudos Retrospectivos
5.
J Dermatolog Treat ; 33(2): 1047-1062, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32705920

RESUMO

INTRODUCTION: Penile intraepithelial neoplasia (PeIN) is a histological term for precancerous penile lesions. PeIN is important due to the high morbidity and mortality associated with progression to penile squamous cell carcinoma (PSSC). But PeIN is rare, contributing to a limited evidence-base for the relative efficacy of available treatment options. OBJECTIVES & METHODS: To consolidate and expand knowledge about PeIN and its treatment, we describe the clinical and histological characteristics, treatments and outcomes of 345 patients with PeIN, managed by our multidisciplinary team. Our results are compared and contrasted with those in the literature, following comprehensive review. RESULTS: 8.7% of patients had concomitant, invasive PSCC, whilst 91.3% demonstrated PeIN alone. 84% had undifferentiated PeIN, and 10.7% differentiated PeIN (5.2%, not specified). Clinical or histological evidence of HPV alone was present in 58%; features of lichen sclerosus alone in 12%; features of both in 29.4%. Only 14.4% of patients could be treated solely with topical agents or cryotherapy, whereas the remaining 85.6% underwent some form of surgical intervention, circumcision being the mainstay. Just 2.6% progressed to PSCC. CONCLUSIONS: Clinical management of PeIN can be rationally optimized with excellent outcomes. Circumcision is important. Topical treatments alone are disappointing.


Assuntos
Carcinoma in Situ , Líquen Escleroso e Atrófico , Neoplasias Penianas , Neoplasias Cutâneas , Carcinoma in Situ/patologia , Carcinoma in Situ/terapia , Humanos , Líquen Escleroso e Atrófico/patologia , Líquen Escleroso e Atrófico/terapia , Masculino , Neoplasias Penianas/patologia , Neoplasias Penianas/terapia , Pênis/patologia , Neoplasias Cutâneas/patologia
7.
Hong Kong Med J ; 27(6): 437-443, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34857669

RESUMO

INTRODUCTION: Enhanced recovery after surgery (ERAS) practices improve postoperative recovery and reduce postoperative length of stay (LOS) in patients undergoing primary total hip arthroplasty (THA) or total knee arthroplasty (TKA). Our study investigated whether these promising results could be reproduced in a private hospital setting. METHODS: In total, 228 patients were included in the study cohort: the conventional group comprised 117 patients from 2012 to 2014, while the ERAS group comprised 111 patients from 2017 to 2018. All patients had undergone unilateral primary THA or TKA at a private hospital in Hong Kong. The outcome was postoperative LOS; factors affecting LOS were also investigated. RESULTS: No significant differences were found in any baseline parameters between the two groups of patients. The mean LOS was significantly shorter in the ERAS group than in the conventional group (3.28 ± 1.04 vs 5.16 ± 2.06 days, P<0.001). Moreover, a significantly greater proportion of patients could be discharged on or before postoperative day 3 in the ERAS group, compared with the conventional group (77.5% vs 13.7%, P<0.001). A significant difference in LOS was observed between general ward and private ward patients (3.06 ± 0.59 vs 3.66 ± 1.46 days, P=0.003). Sex, age, and nature of surgery (TKA vs THA) did not have significant effects on LOS. CONCLUSIONS: The ERAS practices yielded a significant improvement in postoperative LOS, compared to conventional practices, among patients who underwent unilateral primary THA or TKA in a private hospital.


Assuntos
Artroplastia de Quadril , Artroplastia do Joelho , Recuperação Pós-Cirúrgica Melhorada , Hospitais Privados , Humanos , Tempo de Internação , Readmissão do Paciente , Complicações Pós-Operatórias/epidemiologia
9.
Malays Orthop J ; 14(2): 90-93, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32983382

RESUMO

INTRODUCTION: This study was conducted to evaluate the demographics, causes and outcomes of patients who underwent Posterior Cruciate Ligament (PCL) reconstruction and/or Posterolateral Corner (PLC) reconstruction performed at our institution over the last three years. Sub-analysis was performed to assess the impact of delay from injury to surgery and how this affected outcomes. MATERIAL AND METHODS: From an initial number of 10 patients, seven were contactable and available for analysis. All patients underwent PCL and/or PLC reconstruction (modified Larson's procedure) between 2017 and 2019. The mean age of our cohort was 31.4±9.6 years (range, 21 to 46). Assessment of functional outcomes pre- and post-operatively were done using the Lysholm knee scoring scale, the Knee injury and Osteoarthritis Outcome Score (KOOS) and visual analogue scale (VAS). The mean follow-up from operation at time of reporting was seven months (range, 2 to 12 months). RESULTS: There were four combined PCL and PLCs, two isolated PLCs and one patient who underwent an isolated PCL reconstruction. There were significant improvements between pre-operative and post-operative in all functional outcome scores utilised following PCL reconstruction and/or modified Larson's reconstruction. Lysholm knee scoring scale improved from pre-operative to post-operative at 41.14±12.32 to 74.86±13.52 (p=0.0001), KOOS from 49.71±11.19 to 71.43±13.84 (p=0.001), and VAS from 5.71±2.06 to 2.86±2.48 (p=0.001). Our sub-analysis showed that higher functional outcomes were present when surgery was done less than six months from the time of index injury. There were no complications (eg. Infections, revisions) in this cohort at the time of reporting. CONCLUSION: Reconstructive surgery for PCL and/or PLC injury is successful in increasing the functional outcomes of patients post-operatively. Delays from injury to surgery remains a problem in the public setting as patients may need to await appropriate imaging and approval of funding. Increased awareness for early surgical intervention may improve overall outcomes of PCL and/or PLC reconstruction in Malaysia.

11.
Tech Coloproctol ; 24(11): 1179-1187, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32725352

RESUMO

BACKGROUND: The optimal opioid-sparing analgesic regimen following laparoscopic colorectal surgery (LCS) remains uncertain. We sought to determine the efficacy of low-dose bupivacaine infusion via surgeon-inserted modified continuous transversus abdominis plane (mcTAP) catheters after LCS. METHODS: A parallel-group, placebo-controlled, randomized single-centre trial was conducted between April 2017 and February 2018. Block-of-four randomization and allocation concealment by sequentially-numbered, opaque sealed envelopes were used. Patients, surgeons and assessors were blinded. Fifty-two patients were randomized to receive either 0.2% bupivacaine or saline through mcTAP catheters. A 5 ml bolus followed by a 72 h infusion at 2 ml/h was started, with patient-controlled fentanyl analgesia and oral paracetamol given on demand. Primary outcomes were fentanyl consumptions in the first 24 h, second 24 h, and third 24 h following surgery. Secondary outcomes were pain numeric rating scores, recovery outcomes and complications. RESULTS: Twenty-five patients in the bupivacaine group and 26 in the control group were analysed. Patients in the bupivacaine group required significantly less fentanyl overall (106.1 vs 484.5 mcg, p < 0.001) and at all time points (first 24 h: 61.0 vs 324.3 mcg, p < 0.001; second 24 h: 36.3 vs 119.0 mcg, p = 0.033; third 24 h: 8.8 vs 41.2, p = 0.030) when compared to placebo. Significantly lower pain scores at rest at 6 h (2.32 vs 4.0, p = 0.002), and 12 h (1.80 vs 3.08, p = 0.011) and on coughing at 6 h (4.56 vs 5.84, p = 0.019), 12 h (3.76 vs 4.96, p = 0.009), and 24 h (3.44 vs 4.24, p = 0.049) as well as significantly lower opioid-related complications such as nausea or vomiting (9 (36%) vs 1 (4%), p = 0.005) were observed in the bupivacaine group. There were no major block-related complications, and recovery outcomes were similar in both groups. CONCLUSIONS: McTAP block reduces postoperative fentanyl consumption and pain scores after LCS, highlighting its role as a safe and useful opioid-sparing analgesia. REGISTRATION NUMBER: TCTR20150831001 (Thai Clinical Trials Registry). Full trial protocol can be assessed at https://www.clinicaltrials.in.th/ .


Assuntos
Cirurgia Colorretal , Laparoscopia , Músculos Abdominais , Analgésicos , Analgésicos Opioides , Anestésicos Locais , Método Duplo-Cego , Humanos , Medição da Dor , Dor Pós-Operatória/tratamento farmacológico , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/prevenção & controle
12.
Br J Surg ; 107(7): e201, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32383160
13.
J Laryngol Otol ; : 1-5, 2020 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-31969202

RESUMO

OBJECTIVES: Understanding the pattern of middle-ear cholesteatoma becomes pertinent with the rise of endoscopic surgery as surgeons decide on the optimal approach to visualise and extirpate disease. With modifications to the Telmesani attic-tympanum-mastoid staging system, this study aimed to evaluate the commonest patterns of middle-ear cholesteatoma and their implications for surgical approach. METHODS: A retrospective study was conducted in a single tertiary institution in Singapore. All patients undergoing cholesteatoma surgery between January 2012 and June 2015 were included. Staging of cholesteatoma was based on clinical assessment corroborated by radiological findings. RESULTS: Out of the 55 ears included, 98.2 per cent had cholesteatoma involving the attic. The disease extended into the mastoid antrum and beyond in 43 cases (78.2 per cent). The facial recess and/or sinus tympanum was affected in 26 cases (47.3 per cent). CONCLUSION: The majority of cholesteatoma cases present with extensive attic disease and significant mastoid involvement. In these cases, endoscopes may be best suited to adjunctive rather than exclusive use in surgery.

14.
Curr Res Struct Biol ; 2: 130-143, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-34235473

RESUMO

Human APOBEC3 (A3; apolipoprotein B mRNA editing catalytic polypeptide-like 3) is a family of seven enzymes involved in generating mutations in nascent reverse transcripts of many retroviruses, as well as the human genome in a range of cancer types. The structural details of the interaction between A3 proteins and DNA molecules are only available for a few family members. Here we use homology modelling techniques to address the difference in structural coverage of human A3 enzymes interacting with different DNA substrates. A3-DNA interfaces are represented as residue networks ("graphs"), based on which features at these interfaces are compared and quantified. We demonstrate that graph-based representations are effective in highlighting structural features of A3-DNA interfaces. By large-scale in silico mutagenesis of the bound DNA chain, we predicted the preference of substrate DNA sequence for multiple A3 domains. These data suggested that computational modelling approaches could contribute in the exploration of the structural basis for sequence specificity in A3 substrate selection, and demonstrated the utility of graph-based approaches in evaluating a large number of structural models generated in silico.

15.
Curr Oncol ; 26(6): 380-388, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31896936

RESUMO

Background: Breast-conserving surgery (bcs) and radiation therapy (rt) are the standard of care for early breast cancer; studies have demonstrated that adjuvant rt confers a protective effect with respect to recurrence, although no randomized trials have shown a survival benefit. Methods: This retrospective cohort study used Ontario data linked through ices to examine patients treated for breast cancer between 1 April 2007 and 31 March 2014. The primary outcome was death or recurrence. Outcomes were compared between patients who did and did not receive rt. Results: The total cohort size was 26,279. The hazard ratios (hrs) for various outcomes were significantly higher for patients who did not receive rt than for patients who did: recurrence or death combined [hr: 2.49; 95% confidence interval (ci): 2.25 to 2.75], recurrence (hr: 2.33; 95% ci: 1.91 to 2.84), and death (hr: 2.28; 95% ci: 2.03 to 2.56). The hr for death was 1.81 (95% ci: 1.65 to 1.99) for patients having stage ii cancer compared with those having stage i disease. The hr for death was 1.97 (95% ci: 1.74 to 2.22) for patients having high comorbidity compared with those having little comorbidity. Conclusions: Adjuvant rt carries a protective effect with respect to recurrence and survival in patients with early-stage breast cancer. That survival benefit has not been appreciated in previous randomized trials and underscores the importance of rt as a component of breast cancer treatment.


Assuntos
Neoplasias da Mama/radioterapia , Neoplasias da Mama/cirurgia , Mastectomia Segmentar , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/mortalidade , Estudos de Coortes , Feminino , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Ontário/epidemiologia , Radioterapia Adjuvante
16.
Eur J Orthop Surg Traumatol ; 29(3): 639-644, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30390166

RESUMO

The authors proposed that a well-developed peri-operative pathway for anterior cruciate ligament (ACL) reconstructions improve day case discharge rate with high patient satisfaction. A prospective observational study was undertaken at a district general hospital in UK between August 2017 and April 2018. A dedicated multidisciplinary peri-operative pathway was developed and introduced in January 2018. All primary ACL reconstructions using hamstring grafts in adult patients were included. Primary outcome measure was day case discharge and secondary outcome measures were visual analogue score for pain (VASP), nausea and vomiting scale (NVS), patient satisfaction and 30-day readmission. Patients who underwent surgery before and after introduction of the pathway were in group 1 and group 2, respectively. There were 19 and 22 patients each in group 1 and 2. Age and gender were similar in both groups. Day case discharge rate was significantly better in group 2 (68.4% vs 95.5%, p = 0.02). There were no significant differences in VASP or NVS on day 0, 1 or 3. Patient satisfaction rates were better in group 2 (85.7% vs 100%, p = 0.13). There were no readmissions in both groups. The VASP on day 1 and day 3 post-operatively was significantly better in those who were discharged on the same day (66.8 vs 41.3, p = 0.02; 60.5 vs 34.9, p = 0.03). A well-developed dedicated peri-operative pathway improved day case discharge rate for ACL reconstructions. The pathway was safe and had a higher patient satisfaction rate.


Assuntos
Lesões do Ligamento Cruzado Anterior/cirurgia , Reconstrução do Ligamento Cruzado Anterior , Alta do Paciente/estatística & dados numéricos , Assistência Perioperatória/métodos , Adulto , Reconstrução do Ligamento Cruzado Anterior/efeitos adversos , Feminino , Humanos , Masculino , Dor Pós-Operatória/etiologia , Educação de Pacientes como Assunto , Readmissão do Paciente , Satisfação do Paciente , Náusea e Vômito Pós-Operatórios/etiologia , Estudos Prospectivos
17.
Age Ageing ; 47(5): 754-755, 2018 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-29718071

RESUMO

Zoledronic acid (zoledronate) is a bisphosphonate used predominantly as a second-line treatment for post-menopausal osteoporosis. Its administration is associated with an acute phase reaction. Here, we present two cases of anterior uveitis following initial administration of zoledronate. In the first case, an 80-year-old lady presented with right eye pain and decreased visual acuity 24-hours post-infusion. Uveitis was diagnosed and sub-conjunctival injection of corticosteroids was required. In the second case, a 78-year-old lady presented with right eye pain, vomiting and decreased acuity 24-hours after infusion. She was treated with topical steroids and required cataract surgery to normalise visual acuity. Patients prescribed zoledronate should be warned of the risk of ocular side effects and asked to report promptly for treatment if they develop a red, painful eye or blurred vision.


Assuntos
Conservadores da Densidade Óssea/efeitos adversos , Uveíte Anterior/induzido quimicamente , Ácido Zoledrônico/efeitos adversos , Corticosteroides/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Conservadores da Densidade Óssea/administração & dosagem , Catarata/induzido quimicamente , Extração de Catarata , Dor Ocular/induzido quimicamente , Feminino , Humanos , Resultado do Tratamento , Uveíte Anterior/diagnóstico , Uveíte Anterior/fisiopatologia , Uveíte Anterior/terapia , Acuidade Visual/efeitos dos fármacos , Ácido Zoledrônico/administração & dosagem
18.
Stem Cells Int ; 2018: 2601945, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29731776

RESUMO

Mesenchymal stromal cell-like populations have been derived from mouse-induced pluripotent stem cells (miPSC-MSC) with the capability for tissue regeneration. In this study, murine iPSC underwent differentiation towards an MSC-like immunophenotype. Stable miPSC-MSC cultures expressed the MSC-associated markers, CD73, CD105, and Sca-1, but lacked expression of the pluripotency marker, SSEA1, and hematopoietic markers, CD34 and CD45. Functionally, miPSC-MSC exhibited the potential for trilineage differentiation into osteoblasts, adipocytes, and chondrocytes and the capacity to suppress the proliferation of mitogen-activated splenocytes. The efficacy of miPSC-MSC was assessed in an acute inflammation model following systemic or local delivery into mice with subcutaneous implants containing heat-inactivated P. gingivalis. Histological analysis revealed less inflammatory cellular infiltrate within the sponges in mice treated with miPSC-MSC cells delivered locally rather than systemically. Assessment of proinflammatory cytokines in mouse spleens found that CXCL1 transcripts and protein were reduced in mice treated with miPSC-MSC. In a periodontitis model, mice subjected to oral inoculation with P. gingivalis revealed less bone tissue destruction and inflammation within the jaws when treated with miPSC-MSC compared to PBS alone. Our results demonstrated that miPSC-MSC derived from iPSC have the capacity to control acute and chronic inflammatory responses associated with the destruction of periodontal tissue. Therefore, miPSC-MSC present a promising novel source of stromal cells which could be used in the treatment of periodontal disease and other inflammatory systemic diseases such as rheumatoid arthritis.

20.
HLA ; 91(3): 175-186, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29327506

RESUMO

Next generation DNA sequencing is used to determine the HLA-A, -B, -C, -DRB1, and -DQB1 assignments of 1472 unrelated volunteers for the unrelated donor registry in Argentina. The analysis characterized all HLA exons and introns for class I alleles; at least exons 2, 3 for HLA-DRB1; and exons 2 to 6 for HLA-DQB1. Of the distinct alleles present, there are 330 class I and 98 class II. The majority (~98%) of the cumulative allele frequency at each locus is contributed by alleles that appear at a frequency of at least 1 in 1000. Fourteen (18.2%) of the 77 novel class I and II alleles carry nonsynonymous variation within their exons; 52 (75.4%) class I novel alleles carry only single, apparently random, nucleotide variation within their introns/untranslated regions. Alleles encoding protein variation not usually detected by typing focused only on the exons encoding the antigen recognition domain are 1.0% of the class I assignments and 7.3% of the class II assignments (predominantly DQB1*02:02:01, DQB1*03:19:01, and DRB1*14:54:01). Updates to the common and well documented list of alleles include 10 alleles previously thought to be uncommon but that are found at least 30 times. Five locus haplotypes estimated using the expectation-maximization algorithm as present 3 or more times total 187. While the known HLA diversity continues to increase, the conservation of known allele sequences is remarkable. Overall, the HLA diversity observed in the Argentinian population reflects its European and Native American ancestry.


Assuntos
Variação Genética , Antígenos HLA/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Sistema de Registros , Alelos , Argentina , Sequência de Bases , Éxons/genética , Frequência do Gene/genética , Loci Gênicos , Haplótipos/genética , Humanos , Íntrons/genética
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