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HLA-B*35:08:17 differs from B*35:08:01:01 by a single nucleotide change in codon 105 (CCC > CCG).
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Genes MHC Classe I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Códon , Nucleotídeos , Análise de Sequência de DNARESUMO
INTRODUCTION: Lithiasis in renal graft recipients might be a dangerous condition with a potential risk of organ function impairment. EVIDENCE ACQUISITION: A systematic literature search was conducted through February 2023. The primary objective was to assess the incidence of lithiasis in kidney transplant (KT) recipients. The secondary objective was to assess the timing of stone formation, localization and composition of stones, possible treatment options, and the incidence of graft loss. EVIDENCE SYNTHESIS: A total of 41 non-randomized studies comprising 699 patients met our inclusion criteria. The age at lithiasis diagnosis ranged between 29-53 years. Incidence of urolithiasis ranged from 0.1-6.3%, usually diagnosed after 12 months from KT. Most of the stones were diagnosed in the calyces or in the pelvis. Calcium oxalate composition was the most frequent. Different treatment strategies were considered, namely active surveillance, ureteroscopy, percutaneous/combined approach, or open surgery. 15.73% of patients were submitted to extracorporeal shock wave lithotripsy (ESWL), while 26.75% underwent endoscopic lithotripsy or stone extraction. 18.03% of patients underwent percutaneous nephrolithotomy whilst 3.14% to a combined approach. Surgical lithotomy was performed in 5.01% of the cases. Global stone-free rate was around 80%. CONCLUSIONS: Lithiasis in kidney transplant is a rare condition usually diagnosed after one year after surgery and mostly located in the calyces and renal pelvis, more frequently of calcium oxalate composition. Each of the active treatments is associated with good results in terms of stone-free rate, thus the surgical technique should be chosen according to the patient's characteristics and surgeon preferences.
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Cálculos Renais , Transplante de Rim , Litíase , Humanos , Adulto , Pessoa de Meia-Idade , Oxalato de Cálcio , Cálculos Renais/epidemiologia , Cálculos Renais/terapia , RimRESUMO
Background: Pulmonary hypertension (PH) after tuberculosis (TB) is typically not included among the chronic lung diseases causing PH (group 3 PH), with few data available to support the inclusion. Objectives: To determine the prevalence of PH in an adult population completing TB treatment. Methods: This single-centre, cross-sectional study only included patients with their first documented episode of TB, and who were in the second half of treatment or had recently completed treatment. PH was assessed using transthoracic echocardiography. Questionnaires were completed, and spirometry and a 6-minute walk test were performed. Results: One hundred patients were enrolled, with a mean age of 37.1 years, of whom 58% were male and 46% HIV positive. The median time since initiation of TB treatment was 22 weeks. The mean (standard deviation) measured right ventricular systolic pressure (RVSP) was 23.6 (6.24) mmHg. One participant had PH (defined as RVSP ≥40 mmHg; 95% confidence interval (CI) 0.0 - 3.0) and a further 3 had possible PH (RVSP ≥35 and <40 mmHg), with a combined PH prevalence of 4% (95% CI 0.2 - 7.8). Airflow obstruction on spirometry was found in 13.3% of 98 patients, while 25.5% had a reduced forced vital capacity. There was no association between RVSP or PH/possible PH and sex, age, HIV status, systemic hypertension, spirometry measurements or 6-minute walking distance. Smoking status was associated with RVSP, but not with the presence of PH/possible PH. Conclusion: There was a significant prevalence of PH in this preliminary study of predominantly young patients completing treatment for a first episode of TB. Larger and more detailed studies are warranted. Study synopsis: What the study adds. Of 100 adult patients with their first episode of tuberculosis (TB) who underwent echocardiograms near the end of treatment completion to determine the prevalence of pulmonary hypertension (PH), 1 (1%) had PH and a further 3 (3%) had possible PH. There was no association between sex, age, HIV status, lung function or 6-minute walking distance and the presence of PH. The study adds to the growing awareness of the association of TB with pulmonary vascular disease. It shows that even in a young population with a first episode of TB treated in an ambulatory setting, there is a significant prevalence of PH on treatment completion.Implications of the findings. Given that 10.6 million people acquire TB annually, the absolute global burden of cases with PH is likely to be high, but is underappreciated to date. Further work is urgently needed in this field.
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BACKGROUND: Tygerberg Hospital (TBH) is a tertiary-level hospital in Western Cape Province, South Africa, that provides healthcare to a large low- to middle-income population with services including centralised advanced cardiac care. Acute coronary syndrome (ACS) remains an important cause of death in the region despite a high burden of communicable diseases, including HIV. OBJECTIVES: To describe the incidence of ST-elevation myocardial infarction (STEMI) and high-risk non-ST-elevation ACS (HR-NSTEACS) in the TBH referral network, describe the in-hospital and 30-day mortality of these patients, and identify important high-risk population characteristics. METHODS: The Tygerberg Acute Coronary Syndrome Registry database is an ongoing prospective study that enrols all STEMI and HR-NSTEACS patients in the TBH referral network. All patients aged >18 years presenting with STEMI or HR-NSTEACS were treated in accordance with current European Society of Cardiology guidelines and were included prospectively over a 9-month surveillance period. A waiver of consent was granted to include patients who died before giving informed consent. Data collected included a demographic profile, risk factors for cardiovascular disease, in-hospital therapy and 30-day mortality. RESULTS: A total of 586 patients were enrolled, with a male predominance (64.5%) and incidence rates of STEMI and HR-NSTEACS of 14.7 per 100 000 and 15.6 per 100 000, respectively. The mean patient age was 58 years, and STEMI patients tended to be younger than HR-NSTEACS patients (56 v. 58 years; p=0.01). Cardiovascular risk factors were prevalent overall, but hypertension (79.8% v. 68.3%; p<0.01) and pre-existing IHD (29.1% v. 7.0%; p=0.03) were more prevalent in the HR-NSTEACS group. HIV was present in 12.6% of patients tested, similar to the background population rate. The overall 30-day all-cause mortality rate was 6.1%, with an in-hospital mortality rate of 3.9%. The 30-day mortality rates were similar for STEMI (1.8%) and HR-NSTEACS (2.6%) (p=0.75). HIV did not affect mortality rates. CONCLUSION: Use of a guideline-based approach to treating ACS in a low- to middle-income country setting yields mortality rates comparable to those in high-income countries. However, the lower-than-expected incidence rates of both STEMI and HR-NSTEACS in a relatively young population with a high prevalence of traditional cardiovascular risk factors, and a relatively high proportion of STEMI, suggest potential under-recording of ischaemic heart disease in the region. The rate and outcomes of coronary artery disease (CAD) in people living with HIV were similar to those in people without HIV, suggesting that traditional risk factors still drive CAD outcomes in the region.
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Síndrome Coronariana Aguda , Infecções por HIV , Infarto do Miocárdio , Isquemia Miocárdica , Infarto do Miocárdio com Supradesnível do Segmento ST , Humanos , Masculino , Feminino , Síndrome Coronariana Aguda/epidemiologia , Síndrome Coronariana Aguda/terapia , Estudos Prospectivos , Incidência , Infarto do Miocárdio com Supradesnível do Segmento ST/epidemiologia , Infarto do Miocárdio com Supradesnível do Segmento ST/terapia , África do Sul/epidemiologia , Fatores de Risco , Infecções por HIV/epidemiologiaRESUMO
INTRODUCTION: Kidney transplant (KT) recipients have a four-times higher risk of renal malignancies compared to general population. As these patients frequently harbor bilateral or multifocal tumors, the management of renal masses is still under debate. OBJECTIVE: To explore the current management of the native kidney masses in KT patients. ACQUISITION OF EVIDENCE: We performed a literature search on MEDLINE/PubMed database. A number of 34 studies were included in the present review. SYNTHESIS OF EVIDENCE: In frail patients with renal masses below 3â¯cm, active surveillance is a feasible alternative. Nephron-sparing surgery is not justified for masses in the native kidney. Radical nephrectomy is the standard treatment for post-transplant renal tumors of the native kidneys in KT recipients, with laparoscopic techniques leading to significantly less perioperative complication rates as compared to the open approach. Concurrent bilateral native nephrectomy at the time of transplantation can be considered in patients with renal mass and polycystic kidney disease, especially if no residual urinary output is present. Patients with localized disease and successful radical nephrectomy do not require immunosuppression adjustment. In metastatic cases, mTOR agents can ensure efficient antitumoral response, while maintaining proper immunosuppression in order to protect the graft. CONCLUSIONS: Post-transplant renal cancer of the native kidneys is a frequent occurrence. Radical nephrectomy is most frequently performed for localized renal masses. A standardized and widely-approved screening strategy for malignancies of native renal units is yet to be implemented.
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Carcinoma de Células Renais , Neoplasias Renais , Transplante de Rim , Humanos , Transplante de Rim/métodos , Neoplasias Renais/patologia , Carcinoma de Células Renais/patologia , Rim/patologia , Nefrectomia/métodosRESUMO
INTRODUCTION: In the last 20 years, robotic assisted procedures were evaluated in the field of kidney transplantation to provide a mini-invasive approach for this particularly fragile population. As a relatively new issue, few studies compared open kidney transplantation (OKT) and robotic-assisted kidney transplantation (RAKT), mostly in small cohorts. To improve current knowledge, we wanted here to gather comparative data of OKT vs RAKT in a systematic review. METHODS: A systematic review was performed according to preferred reporting items for systematic reviews and meta-analyses. Medline, Embase, and Cochrane databases were searched to identify all studies reporting post-operative outcomes of RAKT versus OKT. RESULTS: A total of 2136 patients in 13 studies were included. Median recipient age was 42.6 years (OKT: 43.5 years and RAKT: 40.3 years). Median preemptive kidney transplantation rate was 27.1 % (OKT: 23.3 % and RAKT: 33.2 %). Median total operative time and rewarming were respectively: 235 and 49â¯min in OKT population; 250 and 60â¯min in RAKT population. Post-operative complications rates were: 26.2 % in OKT population and 17.8 % in RAKT population. Delayed graft function rates were: 4.9 % in OKT population and 2.3 in RAKT population. Mid-term functional outcomes, patient and graft survival were similar in OKT and RAKT population. CONCLUSION: This systematic review showed that RAKT may be associated with a lower incidence of delayed graft function and post-operative surgical complications and similar mid-term functional outcomes, patient and graft survival, compared to OKT for end-stage renal disease patients.
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Transplante de Rim , Procedimentos Cirúrgicos Robóticos , Urologia , Humanos , Adulto , Transplante de Rim/métodos , Urologistas , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Função Retardada do Enxerto/etiologiaRESUMO
INTRODUCTION AND OBJECTIVE: Renal transplantation in the pediatric population differs from adults in many aspects. This review will focus on the unique issues of the pediatric recipient. MATERIAL AND METHODS: A narrative review on the scarce literature regarding preoperative evaluation before kidney transplantation of the paediatric recipient with an educational focus was conducted. The literature search allowed for identification of publications in English from January 2000 to October 2022. Published studies were identified by searching the following electronic databases: PubMed (MEDLINE), WHO/UNAIDS, Google-Scholar, Semantic-Scholar and Research Gate. For efficiency and reliability, recent randomized controlled trials, meta-analyses, high quality systematic reviews and large well-designed studies were used if available. Internet searches were conducted for other relevant information (definitions, policies or guidelines). RESULTS: Management of congenital urogenital anomalies and lower urinary tract dysfunction along with optimal pediatric urological preoperative assessment for renal transplantation in children is addressed in the light of the available literature. Furthermore, particular considerations including pre-emptive transplantation, transplantation of an adult-size kidney into an infant or small child is discussed. CONCLUSIONS: Outcomes of RT in children have shown progressive improvement over the past 15 years. Transplantation with living related donor gives the best results and pre-emptive transplantation provides with benefits of avoiding dialysis. Surgical and medical considerations in both the pre-transplant and post-transplant management of the pediatric kidney recipient are extremely crucial in order to achieve better short and long-term results.
Assuntos
Transplante de Rim , Lactente , Adulto , Criança , Humanos , Transplante de Rim/métodos , Reprodutibilidade dos Testes , RimRESUMO
BACKGROUND: Historically, infective endocarditis (IE) in South Africa (SA) was associated with the viridans group of streptococci affecting patients with underlying rheumatic heart disease (RHD). A changing IE bacteriological profile raises the question of whether the profile of underlying valvular abnormality has changed. OBJECTIVES: To investigate the prevalence of underlying structural valve abnormalities and their aetiologies associated with IE in SA, and describe the typical imaging findings. METHODS: The Tygerberg Endocarditis Cohort study prospectively enrolled patients with IE between November 2019 and April 2021. Patients underwent detailed transthoracic and transoesophageal echocardiography to assess their underlying cardiac and valvular structure. RESULTS: Among 71 patients included, a predisposing endocardial abnormality was detected in 49.3%, with RHD the most common single identifiable aetiology (16.9%). The in-hospital mortality rate was similar in patients with and without a predisposing endocardial abnormality (20% v. 16.7%; p=0.72), as was the rate of embolic events (20% v. 27.2%; p=0.58). Significantly more patients with a predisposing endocardial abnormality had an indication for surgery (94.3% v. 69.4%; p<0.01). The viridans group of streptococci was more prevalent in patients with a predisposing endocardial abnormality (25.7% v. 2.7%; p<0.01). Left-sided linear vegetation size >10 mm was associated with an increased risk of in-hospital mortality (24% v. 5%; p=0.05). CONCLUSION: We observed a marked decrease in the prevalence of RHD in this cohort of patients with IE. The viridans group of streptococci was an uncommon cause of IE in patients with no predisposing endocardial abnormality detected. The presence of a predisposing endocardial abnormality was not associated with an increased risk of in-hospital mortality or embolic events. Linear vegetation length >10 mm was associated with an increased risk of in-hospital mortality in patients with left-sided IE.
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Endocardite Bacteriana , Endocardite , Cardiopatia Reumática , Estudos de Coortes , Ecocardiografia , Endocardite/diagnóstico por imagem , Endocardite/epidemiologia , Endocardite Bacteriana/diagnóstico por imagem , Endocardite Bacteriana/epidemiologia , Humanos , Estudos Prospectivos , Cardiopatia Reumática/epidemiologia , África do Sul/epidemiologiaRESUMO
Retrograde Intra-Renal Surgery (RIRS) plays a primary role in renal stone treatment context. Energy, frequency and width of laser impulse can be modulated by surgeons to achieve better outcomes. In our study, patients with single renal stone sized 10-20 mm were retrospectively divided into two groups. Patients of Group 1 underwent RIRS with Low-Energy (LE) High-Frequency (HF) settings using Lumenis® 120-W high-power Ho:YAG laser. Patients of Group 2 (control) underwent RIRS using "standard" settings by means of Sphinx® Jr 30 W Ho:YAG system. Follow-up was conducted with a CT scan at 3 months after RIRS in both groups. Procedure success was defined as stone-free or presence of ≤ 4 mm fragments (Clinical Insignificant Residual Fragments-CIRF). A total number of 199 patients were included: 86 LE/HF RIRS (Group 1) vs 113 "conventional" RIRS (Group 2). Mean operative time was 56.6 (± 19.4) min in Group 1 vs 65.2 (± 25.2) min in Group 2 (p = 0.01). Mean hospitalization time was 2.5 ± 1.7 days for Group 1 vs 2.9 ± 3.2 days for Group 2 (p = 0.2). Peri-operative complications were counted: eight in Group 1 and 11 in Group 2 (p > 0.05). At 3-month control, stone-free rate was 69% (59/86 patients) in Group 1 vs 65% (73/113 patients) in Group 2 (p = 0.6). Success rate was 93% (80/86) in Group 1 in comparison to 82% (93/113) in Group 2 (p = 0.03). In conclusion, LE/HF RIRS seems to be a feasible and effective technique with a reduction of operative time and optimal results in terms of "stone-free" and "success" rates. Further studies are needed to ensure the validity of our results and to give evidence-based statements.
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Cálculos Renais , Litotripsia a Laser , Litotripsia , Estudos de Casos e Controles , Humanos , Cálculos Renais/diagnóstico por imagem , Cálculos Renais/cirurgia , Litotripsia a Laser/efeitos adversos , Estudos Retrospectivos , Resultado do Tratamento , UreteroscopiaRESUMO
STUDY QUESTION: How is the semen quality of sexually active men following recovery from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection? SUMMARY ANSWER: Twenty-five percent of the men with recent SARS-Cov-2 infections and proven healing were oligo-crypto-azoospermic, despite the absence of virus RNA in semen. WHAT IS KNOWN ALREADY: The presence of SARS-CoV-2 in human semen and its role in virus contagion and semen quality after recovery from coronavirus disease 2019 (COVID-19) is still unclear. So far, studies evaluating semen quality and the occurrence of SARS-CoV-2 in semen of infected or proven recovered men are scarce and included a limited number of participants. STUDY DESIGN, SIZE, DURATION: A prospective cross-sectional study on 43 sexually active men who were known to have recovered from SARS-CoV2 was performed. Four biological fluid samples, namely saliva, pre-ejaculation urine, semen, and post-ejaculation urine, were tested for the SARS-CoV-2 genome. Female partners were retested if any specimen was found to be SARS-CoV-2 positive. Routine semen analysis and quantification of semen leukocytes and interleukin-8 (IL-8) levels were performed. PARTICIPANTS/MATERIALS, SETTING, METHODS: Questionnaires including International Index of Erectile Function and Male Sexual Health Questionnaire Short Form were administered to all subjects. The occurrence of virus RNA was evaluated in all the biological fluids collected by RT-PCR. Semen parameters were evaluated according to the World Health Organization manual edition V. Semen IL-8 levels were evaluated by a two-step ELISA method. MAIN RESULTS AND THE ROLE OF CHANCE: After recovery from COVID-19, 25% of the men studied were oligo-crypto-azoospermic. Of the 11 men with semen impairment, 8 were azoospermic and 3 were oligospermic. A total of 33 patients (76.7%) showed pathological levels of IL-8 in semen. Oligo-crypto-azoospermia was significantly related to COVID-19 severity (P < 0.001). Three patients (7%) tested positive for at least one sample (one saliva; one pre-ejaculation urine; one semen and one post-ejaculation urine), so the next day new nasopharyngeal swabs were collected. The results from these three patients and their partners were all negative for SARS-CoV-2. LIMITATIONS, REASONS FOR CAUTION: Although crypto-azoospermia was found in a high percentage of men who had recovered from COVID-19, clearly exceeding the percentage found in the general population, the previous semen quality of these men was unknown nor is it known whether a recovery of testicular function was occurring. The low number of enrolled patients may limit the statistical power of study. WIDER IMPLICATIONS OF THE FINDINGS: SARS-CoV-2 can be detected in saliva, urine, and semen in a small percentage of men who recovered from COVID-19. One-quarter of men who recovered from COVID-19 demonstrated oligo-crypto-azoospermia indicating that an assessment of semen quality should be recommended for men of reproductive age who are affected by COVID-19. STUDY FUNDING/COMPETING INTEREST(S): None. TRIAL REGISTRATION NUMBER: N/A.
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COVID-19 , SARS-CoV-2 , Estudos Transversais , Feminino , Humanos , Masculino , Estudos Prospectivos , RNA Viral , Sêmen , Análise do SêmenAssuntos
COVID-19/epidemiologia , Transplante de Rim/estatística & dados numéricos , Pandemias , SARS-CoV-2 , Doadores de Tecidos/estatística & dados numéricos , Academias e Institutos , Adulto , Morte Encefálica , Estudos de Viabilidade , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Obtenção de Tecidos e Órgãos/estatística & dados numéricosAssuntos
Valva Aórtica/anormalidades , Etnicidade/estatística & dados numéricos , Doenças das Valvas Cardíacas/congênito , Doenças das Valvas Cardíacas/epidemiologia , Grupos Raciais/estatística & dados numéricos , Adolescente , Distribuição por Idade , Doença da Válvula Aórtica Bicúspide , Bases de Dados Factuais , Feminino , Humanos , Masculino , Prevalência , Estudos Retrospectivos , Distribuição por Sexo , África do Sul/epidemiologia , Adulto JovemRESUMO
HLA-C*06:297 differs from C*06:02:01:01 by a single nucleotide change in codon-19 (CCC>TCC).
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Antígenos HLA-C , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Éxons/genética , Genes MHC Classe I , Antígenos HLA-C/genética , HumanosAssuntos
Teste de Ácido Nucleico para COVID-19/métodos , COVID-19/diagnóstico , Portador Sadio/diagnóstico , Unidades de Cuidados Coronarianos , Controle de Infecções/métodos , Programas de Rastreamento/métodos , COVID-19/transmissão , Infecção Hospitalar/prevenção & controle , Humanos , Transmissão de Doença Infecciosa do Paciente para o Profissional/prevenção & controle , Isolamento de Pacientes , Equipamento de Proteção Individual , SARS-CoV-2 , África do Sul , Avaliação de SintomasRESUMO
Pompe disease is a metabolic myopathy, due to deficiency of alpha glucosidase, with a wide clinical spectrum. Enzyme replacement therapy is the only available treatment to improve morbidity and mortality, especially in infantile-onset form. However, some patients experience infusion-associated reactions, which may restrict their access to this treatment. We report on two patients (respectively 12 and 3 months old) with infantile-onset Pompe disease and severe cardiomyopathy, that presented with severe reactions during infusion of enzyme replacement therapy and were successfully desensitized with a new individualized protocol. Our protocol, using microdilution and a premedication with antihistamines, corticosteroids, and tranexamic acid, seems safe and effective and it may allow the continuation of therapy in Pompe patients resulting in the reduction of morbidity and mortality related to this disease.
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Doença de Depósito de Glicogênio Tipo II/terapia , Terapia de Reposição Hormonal/métodos , alfa-Glucosidases/administração & dosagem , alfa-Glucosidases/efeitos adversos , Dessensibilização Imunológica , Doença de Depósito de Glicogênio Tipo II/enzimologia , Doença de Depósito de Glicogênio Tipo II/imunologia , Humanos , Lactente , MasculinoAssuntos
Imunodeficiência de Variável Comum/complicações , Psoríase/epidemiologia , Adulto , Imunodeficiência de Variável Comum/tratamento farmacológico , Imunodeficiência de Variável Comum/imunologia , Feminino , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Psoríase/diagnóstico , Psoríase/imunologiaRESUMO
Adenomyoepithelioma are uncommon tumors. The majority of them occur in women in the fifth and sixth decades who usually present with a self-palpated, solitary breast mass or a lesion identified on mammography. We report the case of adenomyoepithelioma of the breast with malignant transformation of both myoepitheliel and epithelial components diagnosed as malignancy during the preoperative stage in a seventy-six year old woman.