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We describe the case of a 56-year-old man who was referred for CRT implantation and found to have anomalous CS. Catheterization of the CS initially failed due to this anomaly. However, a single large posterior-lateral branch with diminutive CS in the atrioventricular groove allowed for successful implantation of the LV lead.
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BACKGROUND: Meditation is defined as a mind and body practice focused on interactions between the brain, mind, body, and behaviour, containing four key elements: a quiet location with little distractions, a comfortable posture, a focus of attention, and an open attitude. We sought to review the benefits of meditation on the alleviation of loneliness. METHODS: A scoping review was conducted based on Arksey and O'Malley's five-stage framework. Eligibility criteria included primary studies of any type that investigated the effects of meditation on loneliness. Search strategies were developed and conducted on MEDLINE, EMBASE, AMED, and CINAHL. The National Center for Complementary and Integrative Health, and American Psychological Association websites were also searched. Articles meeting the inclusion criteria were critically reviewed using a descriptive-analytical narrative method. RESULTS: Thirteen studies met our inclusion criteria and were published between 2012 and 2020 across 10 countries. Eleven studies reported improvements in relation to loneliness. Of the remaining two studies (15%), one mentioned the alleviation of loneliness, but only looked primarily at social closeness in lonely individuals. The other study found a correlation between loneliness and nuclear factor (NF)-κB levels, which was the measured outcome; however, the direct effects of meditation on loneliness were unclear. Three main themes emerged from our analysis, as follows: 1) positive results across all studies, 2) relatively small randomized control trials conducted over the last decade, and 3) lack of diverse demographic information. CONCLUSIONS: While a small number of studies exist at this intersection, given all included studies indicated positive findings, the effects of meditation in alleviating loneliness are promising. Future research should be directed at understanding how meditation mitigates loneliness and how this intervention can impact practice for healthcare professionals.
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Meditação , Humanos , SolidãoRESUMO
Diathermy is extensively used in patients for intracardiac device implant and extraction. While diathermy helps with adequate hemostasis, it may rarely be associated with fatal dysrhythmias. We report a case of diathermy-induced ventricular fibrillation during device extraction. The case highlights the importance and supports the involvement of a defibrillation facility during pacemaker revisions requiring diathermy.
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BACKGROUND: The newly emerged and highly infectious coronavirus disease (COVID-19), which first broke out in Wuhan, China, has invaded most countries around the globe. As both the daily positive cases and death toll increase, countries have taken aggressive action to halt its spread. Saudi Arabia recognized the danger early and implemented a series of urgent precautions. Thus, this study aims to evaluate public trust and compliance with the precautionary measures implemented by authorities to combat the COVID-19 outbreak. METHODS: A cross-sectional study was conducted on a sample of the Saudi public using an electronic questionnaire during the COVID-19 outbreak. The data, which were collected using a validated public trust and compliance tool, were analyzed using the chi-square test, t test, and binary logistic regression. FINDINGS: Of the 1232 participants, there were 655 (53.2%) males and 577 (46.8%) females with 34 ± 10 years as the mean and standard deviation of their age. Participants demonstrated a high level of trust and agreement (98.2%) with the implemented precautionary measures. A positive association between participants' age and their level of agreement with the government actions (r=-.082, P=0.004) was observed, with a significant difference between males (97.1±6.2) and females (98.0±4.7) (t=-2.7, P=0.006). Among the participants, 657 (53.3%) were considered to be practicing poor precautionary measures and 575 (46.7%) good precautionary measures. Males (OR=1.8 times, P<0.001) and those with a school education level (OR=1.7 times, P=0.002) were more likely to have poor precautionary practices compared to others. Married individuals (369, 49.0%; P=0.04) were more likely to comply with good practices. CONCLUSION: A high level of trust was exhibited by the Saudi public in relation to the precautionary measures taken by authorities in Saudi Arabia. Gender, age, marital status, and educational level were found to be significant factors with regard to compliance with precautionary practices.
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Primary immune deficiency (PID) disorders are clinically and molecularly heterogeneous diseases. T cell receptor excision circles (TRECs) and κ (kappa)-deleting excision circles (KRECs) are markers of T and B cell development, respectively. They are useful tools to assess T and B cell function and immune reconstitution and have been used for newborn screening for severe combined immunodeficiency disease (SCID) and agammaglobulinemia, respectively. Their profiles in several genetically confirmed PIDs are still lacking. The objective of this study was to determine TREC and KREC genomic profiling among various molecularly confirmed PIDs. We used real-time-quantitative polymerase chain reaction (RT-qPCR)-based triplex analysis of TRECs, KRECs and ß-actin (ACTB) in whole blood genomic DNA isolated from 108 patients with molecularly confirmed PIDs. All agammaglobulinemia patients had low KREC counts. All SCIDs and Omenn syndrome patients secondary to mutations in RAG1, RAG2, DCLRE1C and NHEJ1 had low TREC and KREC counts. JAK3-deficient patients had normal KREC and the TREC count was influenced by the type of mutation. Early-onset ADA patients had low TREC and KREC counts. Four patients with zeta-chain-associated protein kinase 70 (ZAP70) had low TREC. All purine nucleoside phosphorylase (PNP) patients had low TREC. Combined immunodeficiency (CID) patients secondary to AK2, PTPRC, CD247, DCLREC1 and STAT1 had normal TREC and KREC counts. Most patients with ataxia-telangiectasia (AT) patients had low TREC and KREC, while most DOCK8-deficient patients had low TRECs only. Two of five patients with Wiskott-Aldrich syndrome (WAS) had low TREC counts as well as one patient each with bare lymphocyte syndrome (BLS) and chronic granulomatous disease. All patients with Griscelli disease, Chediak-Higashi syndrome, hyper-immunoglobulin (Ig)M syndrome and IFNGR2 had normal TREC and KREC counts. These data suggest that, in addition to classical SCID and agammaglobulinemia, TREC/KREC assay may identify ZAP70 patients and secondary target PIDs, including dedicator of cytokinesis 8 (DOCK8) deficiency, AT and some individuals with WAS and BLS.
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Medula Óssea/imunologia , Mutação , Imunodeficiência Combinada Severa , Timo/imunologia , Linfócitos B/imunologia , Linfócitos B/patologia , Medula Óssea/patologia , Feminino , Humanos , Masculino , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/imunologia , Imunodeficiência Combinada Severa/patologia , Linfócitos T/imunologia , Linfócitos T/patologia , Timo/patologiaRESUMO
In 2010, we reported the outcome of hematopoietic stem cell transplantation (HSCT) in 11 children with Griscelli syndrome type 2 (GS2). We report here the update on this cohort to include 35 patients. Twenty-seven (77%) patients received conditioning regimen including busulfan, cyclophosphamide with etoposide. Eight (23%) were given busulfan, fludarabine. Thiotepa was added to busulfan and fludarabine regimen in two patients; one received haploidentical marrow and one unrelated cord blood. Posttransplant clinical events included veno-occlusive disease (n = 7), acute (n = 8), or chronic (n = 1) graft-versus-host disease II-IV. With a mortality rate of 37.1% (n = 13) and a median follow-up of 87.7 months of the survivors, 5-year cumulative probability of overall survival (OS) for our cohort of patients was 62.7% (±8.2%). Cumulative probability of 5-year OS was significantly better in those who did not have hemophagocytic lymphohistiocytosis (HLH) prior to HSCT (100% vs. 53.3 ± 9.5%, P value: 0.042). Of the 16 patients with neurologic involvement before HSCT, 8 survived and 3 presented sequelae. OS at 5-year was 50 ± 12.5% and 73.3 ± 10.2% (P value: 0.320) in patients with and without CNS involvement, respectively. In conclusion, HSCT in patients with GS2 is potentially curative with long-term disease-free survival. Early HSCT before the development of the accelerated phase is associated with a better outcome.
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Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Linfo-Histiocitose Hemofagocítica , Piebaldismo , Doenças da Imunodeficiência Primária , Bussulfano , Criança , Humanos , Linfo-Histiocitose Hemofagocítica/terapia , Recidiva Local de Neoplasia , Piebaldismo/terapia , Doenças da Imunodeficiência Primária/terapia , Estudos Retrospectivos , Condicionamento Pré-Transplante , VidarabinaRESUMO
Hyper-IgM syndrome due to CD40 deficiency (HIGM3) is a rare disease with only a few reported cases of haematopoietic stem cell transplantation (HSCT). In retrospective study, we reviewed all patients with HIGM3 who underwent HSCT at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, between 2008 and 2013. Six patients were identified. Three male and three female patients from three families. The median age of diagnosis was 13 months (range, 1-28 months). All lacked CD40 expression on B cells by flow cytometry. The median time from diagnosis to transplantation was 8.5 months (range, 1-17 months). For all patients, the donors were HLA-identical siblings, with the exception of one patient for whom the donor was a sibling with one antigen mismatch. The conditioning regimen was busulfan and cyclophosphamide in five patients and busulfan, cyclophosphamide and antithymocyte globulin in one patient. For GVHD prophylaxis, cyclosporine and methotrexate was used. All patients engrafted. The survival rate was 100%, with a median follow-up of 54 months (range, 30-116 months). One patient developed acute GVHD. All patients showed complete immune recovery with positive CD40 expression on B cells and discontinued IVIG replacement. Our study shows that HSCT is potentially effective at curing the disease.
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Antígenos CD40/deficiência , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Síndrome de Imunodeficiência com Hiper-IgM , Irmãos , Condicionamento Pré-Transplante , Soro Antilinfocitário/administração & dosagem , Linfócitos B/imunologia , Linfócitos B/patologia , Bussulfano/administração & dosagem , Pré-Escolar , Ciclofosfamida/administração & dosagem , Intervalo Livre de Doença , Feminino , Doença Enxerto-Hospedeiro/imunologia , Doença Enxerto-Hospedeiro/mortalidade , Doença Enxerto-Hospedeiro/patologia , Doença Enxerto-Hospedeiro/prevenção & controle , Humanos , Síndrome de Imunodeficiência com Hiper-IgM/imunologia , Síndrome de Imunodeficiência com Hiper-IgM/mortalidade , Síndrome de Imunodeficiência com Hiper-IgM/patologia , Síndrome de Imunodeficiência com Hiper-IgM/terapia , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Taxa de SobrevidaRESUMO
In total, 11 consecutive pediatric patients with Griscelli syndrome (GS) type 2, who received allogeneic hematopoietic SCT (aHSCT) at our center between 1993 and 2007, were reviewed. The median age at transplantation was 8.2 months (range, 4-36.3 months) and the median time from diagnosis to transplantation was 3.7 months (range, 1.4-19.5 months). Seven patients developed an accelerated phase and were treated with chemotherapy before transplantation. At the time of transplantation, all patients were in clinical remission. The source of grafts was matched-related marrows in eight patients and partially mismatched unrelated cords in three patients. All patients were engrafted at a median time of 15 days (range, 12-36 days). Grade I-II acute GVHD and veno-occlusive disease occurred in three and one patient, respectively. A total of 10 patients are now alive and disease free at a median of 4.8 years post-HSCT. The post transplant course was complicated by CMV infection in four patients. One patient died in remission from septic shock, 6 months after transplantation. Chimerism studies at the last contact are available for nine patients: six patients have complete donor chimerism and three have stable mixed chimerism. Early aHSCT from matched-related donors or unrelated cord blood for children with GS is feasible.
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Transplante de Células-Tronco Hematopoéticas/métodos , Pré-Escolar , Infecções por Citomegalovirus , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Transplante de Células-Tronco Hematopoéticas/mortalidade , Histocompatibilidade , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/terapia , Lactente , Linfo-Histiocitose Hemofagocítica , Piebaldismo/complicações , Piebaldismo/terapia , Doenças da Imunodeficiência Primária , Análise de Sobrevida , Resultado do TratamentoRESUMO
BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive disease in which affected children present with recurrent infection and may present with failure to thrive, neurological impairment, autoimmunity, or malignancy. The diagnosis of PNP is usually suggested by a reduced level of serum uric acid. We report here a novel mutation in the nucleoside phosphorylase gene (NP gene) in a patient with primary immunodeficiency and neurological impairment but with normal uric acid levels. The diagnosis was confirmed biochemically and showed a reduced PNP activity, and also by molecular gene analysis. METHODS: A case report and a complete NP gene DNA analysis. RESULT: The sequencing analysis showed a novel homozygous missense mutation, c.487T>C in the NP gene, resulting in a substitution of serine by proline at residue 163 (S163P) in the mature NP protein. CONCLUSION: This NP missense mutation reported here is associated with recurrent infection, developmental delay, and primary immunodeficiency combined with normal uric acid levels in the affected child most likely due to a residual PNP enzyme activity. PNP deficiency causing primary immunodeficiency is still possible, even with normal uric acid levels.
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Mutação , Purina-Núcleosídeo Fosforilase/genética , Ácido Úrico/sangue , Pré-Escolar , Humanos , MasculinoRESUMO
TNF-alpha, including other proinflammatory cytokines alone or in combination, induces iNOS expression and upregulates inflammatory responses. We evaluated the relationship between TNF-alpha and iNOS expression in indomethacin-induced jejunoileitis in male Sprague-Dawley rats. Rats were fed a daily dose of a phosphodiesterase inhibitor-either theophylline or pentoxifylline-for 2 days. Jejunoileitis was induced with two subcutaneous injections of indomethacin (7.5 mg/kg) 24 hr apart and theophylline or pentoxifylline continued for 12 hr or 4 days. Other rats received a single intraperitoneal injection of anti-TNF-alpha monoclonal antibody (TNF-Ab) 30-min before indomethacin. At 4 days TNF-Ab, theophylline, or pentoxifylline treatment significantly decreased indomethacin-induced ulceration, myeloperoxidase activity, and disease activity index. Although indomethacin significantly increased serum TNF-alpha and nitrate/nitrite levels over the control value as early as 12 hr, iNOS expression was detected only after 4 days. Serum IL-1beta level did not change at 12 hr but increased fourfold at 4 days. Treatment with TNF-Ab, theophylline, or pentoxifylline significantly reduced serum/tissue TNF-alpha, IL-1beta, nitrate/nitrite, and iNOS expression. The downregulation of nitrate/nitrite by these inhibitors suggests that TNF-alpha modulates iNOS expression.