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1.
World J Transplant ; 14(2): 91052, 2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38947965

RESUMO

BACKGROUND: The impact of social determinants of health in allogeneic transplant recipients in low- and middle-income countries is poorly described. This observational study analyzes the impact of place of residence, referring institution, and transplant cost coverage (out-of-pocket vs government-funded vs private insurance) on outcomes after allogeneic hematopoietic stem cell transplantation (alloHSCT) in two of Mexico's largest public and private institutions. AIM: To evaluate the impact of social determinants of health and their relationship with outcomes among allogeneic transplant recipients in Mexico. METHODS: In this retrospective cohort study, we included adolescents and adults ≥ 16 years who received a matched sibling or haploidentical transplant from 2015-2022. Participants were selected without regard to their diagnosis and were sourced from both a private clinic and a public University Hospital in Mexico. Three payment groups were compared: Out-of-pocket (OOP), private insurance, and a federal Universal healthcare program "Seguro Popular". Outcomes were compared between referred and institution-diagnosed patients, and between residents of Nuevo Leon and out-of-state. Primary outcomes included overall survival (OS), categorized by residence, referral, and payment source. Secondary outcomes encompassed early mortality, event-free-survival, graft-versus-host-relapse-free survival, and non-relapse-mortality (NRM). Statistical analyses employed appropriate tests, Kaplan-Meier method, and Cox proportional hazard regression modeling. Statistical software included SPSS and R with tidycmprsk library. RESULTS: Our primary outcome was overall survival. We included 287 patients, n = 164 who lived out of state (57.1%), and n = 129 referred from another institution (44.9%). The most frequent payment source was OOP (n = 139, 48.4%), followed by private insurance (n = 75, 26.1%) and universal coverage (n = 73, 25.4%). No differences in OS, event-free-survival, NRM, or graft-versus-host-relapse-free survival were observed for patients diagnosed locally vs in another institution, nor patients who lived in-state vs out-of-state. Patients who covered transplant costs through private insurance had the best outcomes with improved OS (median not reached) and 2-year cumulative incidence of NRM of 14% than patients who covered costs OOP (Median OS and 2-year NRM of 32%) or through a universal healthcare program active during the study period (OS and 2-year NRM of 19%) (P = 0.024 and P = 0.002, respectively). In a multivariate analysis, payment source and disease risk index were the only factors associated with overall survival. CONCLUSION: In this Latin-American multicenter study, the site of residence or referral for alloHSCT did not impact outcomes. However, access to healthcare coverage for alloHSCT was associated with improved OS and reduced NRM.

2.
J Emerg Med ; 67(1): e80-e88, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38806349

RESUMO

BACKGROUND: Emergency physicians and trainees provide the initial care for critically ill patients. In times of emergency department boarding, this care may extend beyond the first few hours. To meet the needs of this population, a standardized novel critical care curriculum targeting third- and fourth-year medical students was developed. OBJECTIVES: We hypothesized that the institution of such a curriculum is feasible and will provide an increased understanding of the underlying critical care principles within this learner population. METHODS: We developed a 2-month-long critical care curriculum (February-April) and carried out the course twice from 2022-2023. Our pilot study deployed this curriculum to medical students interested in critical care through the American Academy of Emergency Medicine/Resident and Student Association. The primary outcome included was the overall composite score comparison of the pre- and post-course evaluations, with a higher score indicating that the student improved their comprehension. Secondary outcomes included the individual factors of the pre- and post-course surveys. RESULTS: Fifty-one trainees completed the pilot course, including 11/51 (21.6%) third-year medical students and 40/51 (78.4%) fourth-year medical students. Overall, 39 had "no experience" in critical care and 12 indicated that they had "previous experience." The students' baseline pre-course from the pooled 2022 and 2023 Introduction to Critical Care in Emergency Medicine (ICCEM) curriculum data was 3 (interquartile range 4-3) and their post-course score was 9 (interquartile range 9-9), p-value 0.015 for the 51/54 students who completed the course. CONCLUSIONS: The novel curriculum was found to be effective during its implementation in third- and fourth-year medical students. As such, it indicated that a critical care fundamentals course improves confidence in these topics for students with and without prior experience. Further work is necessary to understand the generalizability and knowledge retention of the proposed pilot curriculum.


Assuntos
Cuidados Críticos , Currículo , Medicina de Emergência , Estudantes de Medicina , Humanos , Currículo/tendências , Currículo/normas , Medicina de Emergência/educação , Cuidados Críticos/métodos , Projetos Piloto , Estudantes de Medicina/estatística & dados numéricos , Feminino , Masculino , Inquéritos e Questionários , Adulto , Educação de Graduação em Medicina/métodos , Educação de Graduação em Medicina/normas , Avaliação Educacional/métodos
3.
Clin Spine Surg ; 2024 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-38409673

RESUMO

STUDY DESIGN: Retrospective analysis of clinical data from a single institution. OBJECTIVE: To assess the day of surgery during the week as a possible predictor of length of stay (LOS) following anterior cervical discectomy and fusion (ACDF). SUMMARY OF BACKGROUND DATA: Surgeries later in the week may result in longer LOS and higher costs for joint arthroplasty, yet this is unclear following spine surgery. Procedures performed later in the week may lead to weekend admissions when there are limited services that may contribute to an extended LOS. We attempt to identify associations between day of surgery and LOS, readmission, and complications following single- and multilevel ACDF. MATERIALS AND METHODS: Patients at a single institution undergoing ACDF by 7 primary surgeons in both orthopedic and neurosurgery spine departments between 2015 and 2019 were retrospectively reviewed. Patients were stratified by surgery day at either the beginning (Monday/Tuesday) or end (Thursday/Friday) of the week and by single- or multilevel ACDF. Surgery for trauma, infections, adjacent level disease, or revision were excluded. Patient demographics, Charlson Comorbidity Index (CCI), LOS, postoperative complications, and readmission rates were assessed. RESULTS: Six hundred fifty-two patients underwent ACDF. For single-level ACDF, 222 were reviewed, with 112 having surgery at the beginning and 110 at the end of the week. For multilevel ACDF, 431 were reviewed, with 192 having surgery at the beginning and 239 at the end of the week. No differences in pre- or postoperative variables were determined for single-level ACDF. Despite no differences in pre-operative variables, CCI, operative duration, or number of levels, late-week multilevel ACDF had longer average LOS (2.8±3.0 days) compared to early-week surgery (2.0±2.0 days) (P=0.018). CONCLUSIONS: Late-week multilevel ACDF was associated with an increased LOS, as it may prove beneficial to surgical planning. This conflicts with previous reports that day of week was not associated with LOS following ACDF. LEVEL OF EVIDENCE: III.

4.
Clin Nutr ESPEN ; 58: 14-20, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-38056998

RESUMO

BACKGROUND - AIM: Hyperhomocysteinemia is recognized as a risk factor for several diseases and conditions. The aim of this study was to investigate and compare the efficacy of two total homocysteine (tHcy)-lowering treatments including folinic acid or l-methylfolate in healthy Greek adults. METHODS: Two hundred and seventy-two healthy Greek adults (143 men, 129 women; mean age±SD: 43.0 ± 15.3 years), with serum tHcy levels ≥10 µmol/L received randomized folinic acid ("Folinic acid Group") or l-methylfolate ("l-methylfolate Group") orally for three months. All subjects with serum cobalamin (Cbl) levels <300 pg/mL additionally received 1 mg hydroxycobalamine intramuscularly twice a week for the first month only. Serum folate, Cbl and tHcy levels were determined using immunoassays methods at the beginning and the end of the study period. The MTHFR C677T and MTHFR A1298C gene polymorphisms were genotyped using polymerase chain reaction and reverse hybridization. RESULTS: At the end of the 3-month intervention period, the levels of serum folate and Cbl increased significantly, whereas the levels of serum tHcy decreased significantly in the two groups. The individuals with MTHFR 677TT genotype had a significantly higher reduction in serum tHcy levels than the individuals with the MTHFR 677CC or MTHFR 677CT genotypes. Although the "Folinic acid Group" had a considerably higher increase in their serum folate levels (but not Cbl) than the "l-methylfolate Group", the reduction of serum tHcy levels between the two groups was not substantially different. The individuals with MTHFR 677CT genotype had a statistically significant higher reduction in serum tHcy levels when supplemented with folinic acid rather than l-methylfolate. CONCLUSIONS: The administration of folinic acid compared to l-methylfolate caused a higher increase of serum folate levels but no difference in the reduction of serum tHcy levels. The reduction of serum tHcy levels was influenced by the existence of MTHFR C677T and not MTHFR A1298C gene polymorphisms. The individuals with MTHFR 677CT genotype appear to benefit more by folinic acid than l-methylfolate supplementation.


Assuntos
Ácido Fólico , Metilenotetra-Hidrofolato Redutase (NADPH2) , Adulto , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Leucovorina , Ácido Fólico/farmacologia , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Suplementos Nutricionais , Homocisteína
5.
Cureus ; 15(10): e48014, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38034240

RESUMO

Gangrenous cholecystitis (GC) is a severe form of acute cholecystitis (AC) with ischemia and necrosis of the gallbladder (GB) wall. Patients with GC are sicker than the usual AC patients, and their surgical treatment is more complex and linked with a higher risk of morbidity and mortality. Typically, the first imaging modality used to assess patients with clinically suspected AC is ultrasound. However, if the ultrasound results were inconclusive, a CT scan might help evaluate these individuals. Our study presents a 62-year-old male who presented with mild right upper quadrant discomfort. However, an abdominal computed tomography CT scan showed a pericholecystic fluid collection with a sign of GB perforation that was managed with subtotal cholecystectomy. Five days after the operation, the patient was discharged to home in excellent condition.

6.
Acta Medica (Hradec Kralove) ; 66(2): 61-67, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37930095

RESUMO

AIM: The aim of this study was to investigate the association of serum total Hcy (tHcy) levels with various demographic, clinical and genetic characteristics in healthy Greek adults. METHODS: Anthropometric characteristics (height, weight), systolic and diastolic blood pressure, complete blood count and biochemical assessments, were recorded and measured among 383 Greek adults (199 men). Serum folate, Cobalamin (Cbl) and tHcy levels were determined using immunoassays methods. The MTHFR C677T and A1298C gene polymorphisms were genotyped using polymerase chain reaction and reverse hybridization. RESULTS: MTHFR C677T gene polymorphism, serum folate and Cbl levels were correlated with serum tHcy levels independently. The individuals with 677TT genotype had significantly higher serum tHcy levels than individuals with 677 CC or CT genotypes. Regarding the MTHFR C677T gene polymorphism, the existence of the T allele was associated with statistically significantly lower serum folate and higher serum tHcy levels than C allele. Regarding the MTHFR A1298C gene polymorphism, the existence of the C allele was associated with statistically significant lower serum tHcy levels than A allele. Furthermore, there was no significant correlation between the serum tHcy levels and demographic (except age) or clinical characteristics (sex, BMI, smoking status, SBP, DBP, HGB, HCT, TC, TG, HDL-C, LDL-C, TC/HDL-C). CONCLUSIONS: Serum tHcy levels are influenced by the existence of MTHFR C677T gene polymorphism (mainly 677TT genotype), serum folate and Cbl levels. Individuals with hyperhomocysteinemia should be further investigated for the existence of MTHFR C677T gene polymorphism, with the aim to determine the suitable treatment.


Assuntos
Ácido Fólico , Polimorfismo Genético , Masculino , Humanos , Adulto , Grécia , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Genótipo , Demografia , Homocisteína/genética
7.
Hormones (Athens) ; 22(3): 491-499, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37328700

RESUMO

AIM: The aim of this study was to investigate the associations of serum 25-hydroxyvitamin D [25(OH)D] with various demographic, anthropometric, and genetic characteristics and biochemical parameters in healthy Greek adults. METHODS: Demographic (age and sex), anthropometric (body mass index/BMI), and genetic (MTHFR gene polymorphisms) characteristics and biochemical parameters (serum folate, cobalamin/Cbl, and total homocysteine/tHcy concentrations), which had been recorded and measured, among others, in the framework of periodic medical examination (military personnel) or check-up (non-military personnel) of 383 healthy Greek adults (199 men and 184 women) were analyzed. Serum 25(OH)D, tHcy, folate, and Cbl levels were determined using immunoassay methods. The MTHFR C677T and A1298C gene polymorphisms were genotyped using polymerase chain reaction and reverse hybridization. RESULTS: Serum 25(OH)D concentrations were correlated with Cbl levels and MTHFR C677T gene polymorphism, while they had a reverse correlation with serum tHcy levels, age, and BMI. There was no significant correlation between serum 25(OH)D concentrations and sex, serum folate levels, and smoking status. Individuals with the 677TT genotype had statistically significantly lower serum 25(OH)D levels than those with the 677CC or 677CT genotype, while individuals with the 1298CC genotype had statistically significantly higher serum 25(OH)D levels than those with 1298AA or 1298AC genotype. Moreover, the reverse correlation between the serum 25(OH)D and tHcy levels was statistically significant in all six MTHFR genotypes. CONCLUSIONS: Serum 25(OH)D levels are associated with age, BMI, serum tHcy, and Cbl levels and MTHFR C677T gene polymorphism. The most significant finding of our study is the observed reverse correlation of serum 25(OH)D levels with serum tHcy levels. Considering that vitamin D deficiency and hyperhomocysteinemia (HHcy) are associated with an increased risk for cardiovascular diseases (CVDs), we suggest that individuals with high serum tHcy levels should be further investigated for, inter alia, their serum 25(OH)D levels.


Assuntos
Homocisteína , Metilenotetra-Hidrofolato Redutase (NADPH2) , Masculino , Humanos , Adulto , Feminino , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Homocisteína/genética , Polimorfismo Genético , Genótipo , Ácido Fólico
8.
J Surg Case Rep ; 2023(5): rjad288, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37220592

RESUMO

Although Meckel's diverticulum (MD) is a relatively common asymptomatic gastrointestinal anomaly, an inverted MD is a rare entity that is challenging to diagnose prior to surgery and presents usually in the pediatric population with bleeding, anemia and abdominal pain. The most frequent adult presentation in non-inverted MD is intestinal obstruction, whereas bleeding and anemia are the most typical presenting complaints in inverted MD. Here, we report our experience with an adult female patient, who presented with 5 days duration of abdominal pain, nausea and vomiting. Imaging revealed signs of small bowel obstruction with bowel wall thickening in the terminal ileum and a double target appearance. This case describes a rare cause of adult intestinal intussusception because of inverted MD, which was successfully managed with surgery. The final pathology report confirms the diagnosis.

9.
Hormones (Athens) ; 22(2): 353-354, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36808572
10.
Scand J Clin Lab Invest ; 83(2): 69-73, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36662122

RESUMO

Methylene tetrahydrofolate reductase (MTHFR) is a key enzyme of homocysteine metabolism participating in the folate cycle. The aim of this study was to investigate the association of MTHFR C677T and MTHFR A1298C gene polymorphisms with serum folate, cobalamin (Cbl) and homocysteine (Hcy) concentrations in healthy Greek adults. The MTHFR C677T and A1298C gene polymorphisms were genotyped in 383 healthy Greek adults (199 men and 184 women) using polymerase chain reaction and reverse hybridization. Serum folate, Cbl and total Hcy (tHcy) levels were determined using immunoassays methods. Among the 383 individuals, 73 (19.1%) were normal (CC), 202 (52.7%) were heterozygous (CT) and 108 (28.2%) were homozygous (TT) regarding the MTHFR C677T gene polymorphism, while 263 (68.7%) were normal (AA), 105 (27.4%) were heterozygous (AC) and 15 (3.9%) were homozygous (CC) regarding the MTHFR A1298C gene polymorphism. The overall C and T allele frequency for the MTHFR C677T gene polymorphism was 45.4% and 54.6%, respectively, while the overall A and C allele frequency for the MTHFR A1298C gene polymorphism was 82.3% and 17.6%, respectively. The MTHFR C677T and not the A1298C gene polymorphism had a significantly influence on serum folate and tHcy levels. The individuals with 677TT genotype had significantly lower serum folate and significantly higher serum tHcy levels than individuals with 677 CC or CT genotypes. Serum folate and tHcy levels are influenced by the existence of the MTHFR C677T gene polymorphism (mainly 677TT genotype). Individuals with low serum folate levels and/or high serum tHcy levels should be further investigated for a possible existence of MTHFR C677T and not A1298C gene polymorphisms, with aim to determine the suitable treatment.


Assuntos
Ácido Fólico , Homocisteína , Metilenotetra-Hidrofolato Redutase (NADPH2) , Vitamina B 12 , Adulto , Feminino , Humanos , Masculino , Ácido Fólico/sangue , Genótipo , Grécia , Homocisteína/sangue , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético , Vitamina B 12/sangue
11.
J Mol Evol ; 91(2): 204-213, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36651965

RESUMO

Interferon induced with helicase C domain-containing protein 1 (IFIH1) gene encodes a cytoplasmic RNA helicase otherwise known as melanoma differentiation-associated 5 (MDA5), a RIG-1-like RNA helicase that recognizes viral RNA and is involved in innate immunity through recognition of viral RNA. Upon binding to double-stranded (ds) RNA, MDA5 forms a filamentous assembly along the length of dsRNA and utilizes molecular signatures to discriminate self, versus non-self on the basis of dsRNA length and methylation. Its missense variant rs35667974 is protective for type 1 diabetes, psoriasis, and psoriatic arthritis, but is also found to be associated with an increased risk for ankylosing spondylitis, Crohn's disease, and ulcerative colitis. To gain insight into the complex role of this variant we performed a structural analysis of MDA5 in complex with dsRNA using molecular dynamics simulations. Our data suggest that while the Ile923Val mutation of the rs35667974 variant does not affect binding to native dsRNA significantly, it displays a destabilizing effect in the presence of 2'-O uridine methylation. Thus, the presence of 2'-O-methylation at the dsRNA introduces a sensing signature that leads to selective reduction of the overall MDA catalytic activity. This study represents an evaluation of the role of the shared rs35667974 variant of autoimmune locus IFIH1, reported to lead to selectively reduced catalytic activity of the modified MDA5 phenotype and, as a consequence, reduced negative feedback on cytokine and chemokine signaling and selectively protection against autoimmunity.


Assuntos
Doenças Autoimunes , RNA Helicases DEAD-box , Humanos , Helicase IFIH1 Induzida por Interferon/genética , Helicase IFIH1 Induzida por Interferon/metabolismo , RNA Helicases DEAD-box/genética , RNA Helicases DEAD-box/química , RNA Helicases DEAD-box/metabolismo , Doenças Autoimunes/genética , RNA Viral/genética , RNA de Cadeia Dupla/genética , Polimorfismo Genético , Epigênese Genética/genética
12.
J Surg Case Rep ; 2023(12): rjad685, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38164208

RESUMO

Necrotizing fasciitis (NF) is a life-threatening soft tissue infection, typically caused by preexisting conditions such as trauma, complicated intraabdominal infections, or even small wounds. However, it is very rare for NF to occur as a result of perforated colon cancer (CC). Diagnosis primarily relies on clinical findings, imaging, and laboratory tests. Early diagnosis and treatment are crucial for patient survival. In this study, we present a case of an 82-year-old female a known case of CC diagnosed 1 month ago. She presented with hip pain persisting for 10 days duration, along with skin changes over the proximal anterolateral aspect of the thigh. The patient was diagnosed with NF associated with an iliopsoas abscess caused by perforated CC that was managed with surgical debridement, left hemicolectomy, and end colostomy along with broad-spectrum antibiotics.

13.
Front Cell Infect Microbiol ; 12: 940966, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36275031

RESUMO

Leptospirosis is a neglected disease of man and animals that affects nearly half a million people annually and causes considerable economic losses. Current human vaccines are inactivated whole-cell preparations (bacterins) of Leptospira spp. that provide strong homologous protection yet fail to induce a cross-protective immune response. Yearly boosters are required, and serious side-effects are frequently reported so the vaccine is licensed for use in humans in only a handful of countries. Novel universal vaccines require identification of conserved surface-exposed epitopes of leptospiral antigens. Outer membrane ß-barrel proteins (ßb-OMPs) meet these requirements and have been successfully used as vaccines for other diseases. We report the evaluation of 22 constructs containing protein fragments from 33 leptospiral ßb-OMPs, previously identified by reverse and structural vaccinology and cell-surface immunoprecipitation. Three-dimensional structures for each leptospiral ßb-OMP were predicted by I-TASSER. The surface-exposed epitopes were predicted using NetMHCII 2.2 and BepiPred 2.0. Recombinant constructs containing regions from one or more ßb-OMPs were cloned and expressed in Escherichia coli. IMAC-purified recombinant proteins were adsorbed to an aluminium hydroxide adjuvant to produce the vaccine formulations. Hamsters (4-6 weeks old) were vaccinated with 2 doses containing 50 - 125 µg of recombinant protein, with a 14-day interval between doses. Immunoprotection was evaluated in the hamster model of leptospirosis against a homologous challenge (10 - 20× ED50) with L. interrogans serogroup Icterohaemorrhagiae serovar Copenhageni strain Fiocruz L1-130. Of the vaccine formulations, 20/22 were immunogenic and induced significant humoral immune responses (IgG) prior to challenge. Four constructs induced significant protection (100%, P < 0.001) and sterilizing immunity in two independent experiments, however, this was not reproducible in subsequent evaluations (0 - 33.3% protection, P > 0.05). The lack of reproducibility seen in these challenge experiments and in other reports in the literature, together with the lack of immune correlates and commercially available reagents to characterize the immune response, suggest that the hamster may not be the ideal model for evaluation of leptospirosis vaccines and highlight the need for evaluation of alternative models, such as the mouse.


Assuntos
Leptospira , Leptospirose , Cricetinae , Humanos , Camundongos , Animais , Hidróxido de Alumínio , Reprodutibilidade dos Testes , Leptospirose/prevenção & controle , Vacinas Bacterianas , Antígenos de Bactérias/genética , Proteínas Recombinantes , Escherichia coli , Imunoglobulina G , Epitopos
14.
Clin Lymphoma Myeloma Leuk ; 22(12): 883-893, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36057522

RESUMO

BACKGROUND: B-cell acute lymphoblastic leukemia is frequent in Hispanic adolescents and young adults. Outcomes of implementation of pediatric-inspired regimens in low-and middle-income countries are not well known. METHODS: In this study we treated 94 adolescents and young adults with a local BFM regimen designed to be affordable with the use of native L-asparaginase and mitoxantrone administered in an outpatient fashion, and the of BCR/ABL and measurable residual disease (MRD) determined by high sensitivity flow cytometry for risk stratification. RESULTS: Induction mortality was 11%; 25% of patients had to abandon treatment or be transferred to another health system. Two-year overall (OS) and event free survival (EFS) were 61.5% and 49.8%, MRD-negative patients had a 24-month OS of 85.6% vs. 69.6% (p = .024) and EFS of 76% vs. 45.5% (p = .004). Patients older than 40 years and those who abandoned treatment had worse EFS. Overall drug costs in our regimen were 52% lower than those of CALGB10403. CONCLUSION: The treatment of AYAs with ALL with an outpatient focus was implemented successfully at a reduced cost. Genetic risk assessment, treatment abandonment and lack of access to novel therapies remain major barriers for improving outcomes.


Assuntos
Pacientes Ambulatoriais , Leucemia-Linfoma Linfoblástico de Células Precursoras , Adolescente , Humanos , Adulto Jovem , Intervalo Livre de Doença , Asparaginase/uso terapêutico , Neoplasia Residual/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Prognóstico , Resultado do Tratamento
15.
Autoimmunity ; 55(7): 455-461, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35918839

RESUMO

Autoimmune diseases, which affect approximately 5% of human population, are a range of diseases in which the immune response to self-antigens results in damage or dysfunction of tissues. Recent genome wide association studies (GWAS) have successfully identified novel autoimmune disease-associated loci, with many of them shared by multiple disease-associated pathways but much of the genetics and pathophysiological mechanisms remain still obscure. Considering that most of the potential causal variants are still unknown, many studies showed that the missense variant rs35667974 at interferon-induced with helicase C domain 1 (IFIH1) gene is protective for type 1 diabetes (T1D), psoriasis (PS) and psoriatic arthritis (PsA). Recently, this variant was found to be also associated with ankylosing spondylitis (AS), Crohn's disease (CD) and ulcerative colitis (UC). The IFIH1 gene encodes a cytoplasmic RNA helicase otherwise known as melanoma differentiation-associated 5 (MDA5) that recognizes viral RNA and is involved in innate immunity through recognition of viral RNA. In the present study we sought to investigate the association of the rare rs35667974 variant of IFIH1 gene, which resides in exon 14 and changes a conserved isoleucine at position #923 to valine, in the development of various autoimmune diseases and give a reason for the selectivity affecting different autoimmune diseases. Evolutionary studies and three-dimensional (3 D) homology modelling were employed on the MDA5 protein product, through its association with dsRNA, recognition factor controlling cytokine and chemokine signalling, to investigate the protective role of the MDA5 variant for certain autoimmune diseases.


Assuntos
Doenças Autoimunes , Helicase IFIH1 Induzida por Interferon , Artrite Psoriásica/genética , Autoantígenos , Doenças Autoimunes/genética , Quimiocinas/genética , RNA Helicases DEAD-box/genética , RNA Helicases DEAD-box/metabolismo , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Helicase IFIH1 Induzida por Interferon/genética , Interferons , Isoleucina/genética , Polimorfismo Genético , RNA Viral , Valina/genética
16.
17.
Rev. argent. cir ; 113(1): 56-61, abr. 2021. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1288174

RESUMO

RESUMEN Antecedentes: se define como íleo biliar (IB) la obstrucción mecánica del tubo digestivo por la presencia de uno o más litos biliares. La fisiopatogenia responde a una fístula colecistoduodenal. Material y métodos: estudio descriptivo- retrospectivo entre diciembre de 2017 y enero de 2020 que incluyó 5 casos de IB. Se analizaron: sexo, edad, presentación clínica, utilidad de tomografía computarizada (TC), abordaje y conducta quirúrgica, cirujano actuante, localización de obstrucción, tamaño del lito y mortalidad. Resultados: analizamos 5 pacientes con IB y edad promedio de 66 años. En 4 objetivamos abdomen oclusivo y en uno perforativo. En todos los pacientes se realizó tomografía y el abordaje fue la laparotomía. Se optó por enterolitotomía en 4 y resección intestinal en uno. Hubo un deceso. Conclusión: el IB es un cuadro poco frecuente e insospechado, que predomina en mujeres. La tomografía es el estudio de referencia (gold standard). Factores inherentes al paciente y al equipo tratante determinan el abordaje y la conducta quirúrgica.


ABSTRACT Background: Gallstone ileus is defined as a mechanical obstruction due to impaction of one or more gallstones within the gastrointestinal tract. The pathogenesis is due to the presence of a cholecystoduodenal fistula. Material and methods: We conducted a descriptive and retrospective study of five cases of gallbladder ileus between December 2017 and January 2020. Sex, age, clinical presentation, usefulness of computed tomography scan, surgical approach and treatment, surgeon, site of obstruction, gallstone size and mortality were analyzed. Results: A total of five patients were included; mean age was 66 years. Four patients presented bowel obstruction and one patient had bowel perforation. All the patients underwent computed tomography scan and laparotomy. Enterolithotomy was performed in four patients and one patient underwent bowel resection. One patient died. Conclusion: Gallstone ileus is a rare condition more likely to affect women. Computed tomography scan is the gold standard method for the diagnosis. The surgical approach and strategy will depend on patient-related factors and on the experience of the surgical team.

19.
Eat Weight Disord ; 26(1): 405-406, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31955386
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