Exploring the sex-associated differences in molars fused roots.

BACKGROUND: Human sexual dimorphism is associated with many biological characteristics, including dental variables. OBJECTIVES: To investigate if molars fused roots present sex-associated differences. METHODS: Panoramic radiographs were used to investigate the frequency and distribution of permanent molars fused roots. Only patients with all first and second permanent molars were included. Third molars were not investigated. Any molar with roots fused apical to the usual furcal position were considered molar fused roots. Comparisons between males and females were performed using chi-square or Fisher's and Mann-Whitney tests and the established alpha was 5% (p<0.05). Sex-differential liability models were also proposed. RESULTS: A total of 84 males and 86 females were included and 1360 molars were analyzed. Among them, 46 (26.06%) present at least one molar with fused root. Second maxillary molars were the most affected teeth. There was an association between sex and molars with fused roots. Females had a 3.4 higher chance to present fused roots than males (OR=3.4, CI 95% 1.6-6.8; p=0.0008). The female: male ratio of molars with fused roots was 2.5:1. The number of molars with fused roots ranged from 1 to 6 per patient, and the mean number of Females presented more molars with fused roots (mean = 1.01; standard deviation = 1.52) than males (mean = 0.31; standard deviation = 0.85) (p<0.05). CONCLUSIONS: Molar fused root of permanent teeth presents sex-associated differences, in which females are more affected than males. Our results support sex-differential liability models for molars fused roots.

Psoriasis and steatotic liver disease: Are PNPLA3 and TM6SF2 polymorphisms suitable for the hepato-dermal axis hypothesis?

INTRODUCTION AND OBJECTIVES: A high prevalence of steatotic liver disease has been described in psoriasis. However, the influence of genetic polymorphisms has yet to be investigated in this scenario. This study aims to determine the frequency of steatosis, advanced liver fibrosis and PNPLA3/TM6SF2 genotypes in individuals with psoriasis and to evaluate the impact of genetic polymorphisms, metabolic parameters and cumulative methotrexate dose on steatosis and fibrosis. MATERIALS AND METHODS: Cross-sectional study that prospectively included psoriasis outpatients, submitted to clinical and laboratory analysis, transient elastography (FibroScan®, Fr) and PNPLA3/TM6SF2 genotyping. Steatosis was defined by CAP ≥275 dB/m and advanced liver fibrosis as transient elastography ≥10 kPa. Logistic regression analysis evaluated the independent variables related to steatosis and fibrosis; p-value< 0.05 was considered significant. RESULTS: One hundred and ninety-nine patients were enrolled (age 54.6 ± 12.6 years, 57.3% female). Metabolic syndrome (MetS), steatosis and advanced liver fibrosis prevalence were 55.8%, 54.8% and 9%, respectively. PNPLA3 and TM6SF2 genotypes frequencies were CC 42.3%/CG 49.5%/GG 8.2% and CC 88.7%/ CT 11.3%/ TT 0%. MetS (OR3.01 95%CI 1.51-5.98; p = 0.002) and body mass index (OR1.17 95%CI 1.08-1.26; p < 0.01) were independently associated with steatosis. Diabetes Mellitus (T2DM) (OR10.76 95%CI 2.42-47.87; p = 0.002) and harboring at least one PNPLA3 G allele (OR5.66 95%CI 1.08-29.52; p = 0.039) were associated with advanced fibrosis, but not TM6SF2 polymorphism or cumulative MTX dose. CONCLUSIONS: MetS and T2DM confer higher odds for steatosis and advanced fibrosis in individuals with psoriasis. PNPLA3 G allele, but not TM6SF2 polymorphism, impacts a 5-fold odds of advanced liver fibrosis.

Impact of PNPLA3 and TM6SF2 polymorphisms on the prognosis of patients with MASLD and type 2 diabetes mellitus.

BACKGROUND/AIMS: Longitudinal studies assessing the impact of genetic polymorphisms on outcomes in patients with Type 2 Diabetes Mellitus (T2DM) and Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) are scarce. This study aimed to evaluate the effect of PNPLA3 and TM6SF2 risk alleles on hepatic and extrahepatic outcomes in T2DM-MASLD individuals. METHODS: Patients' polymorphisms were analysed as follows: PNPLA3 CC, CG and GG; TM6SF2 CC and CT + TT; combined comparing no mutant allele, one allele G or T or ≥2 alleles G or T. Hierarchical models were built to assess associations between polymorphisms and outcomes, independently of confounding factors. Multivariate logistic regression was used for cirrhosis and its complications and extrahepatic cancer, and Cox regression for cardiovascular events (CVEs) and all-cause mortality. RESULTS: In total, 407 T2DM-MASLD patients (62.1 ± 10.5 years, 67.6% women) were followed for 11 (6-13) years. Having at least one G or T allele independently increased the risk of cirrhosis in the separate analysis of PNPLA3 and TM6SF2. Combined polymorphism analysis demonstrated an even higher risk of cirrhosis if two or more risk alleles were present (OR 18.48; 95% CI 6.15-55.58; p < .001). Regarding cirrhosis complications, the risk was higher in PNPLA3 GG and TM6SF2 CT + TT, also with an even higher risk when two or more risk alleles were present in the combined evaluation (OR 27.20; 95% CI 5.26-140.62; p < .001). There were no associations with CVEs or mortality outcomes. CONCLUSION: In T2DM, PNPLA3 and TM6SF2 polymorphisms, individually and additively, impact MASLD severity, with an increased risk of cirrhosis and its complications.

Parental History of Type 2 Diabetes Mellitus and PNPLA3 Polymorphism Increase the Risk of Severe Stages of Nonalcoholic Fatty Liver Disease.

BACKGROUND & AIMS: In non-alcoholic fatty liver disease (NAFLD), the influence of parental history of type 2 diabetes (T2D) allied to single nucleotide polymorphisms (SNPs) in the offspring is not known. We aimed to investigate the impact of the parental history of T2D, PNPLA3 and TM6SF2 polymorphisms in liver steatosis and fibrosis. METHODS: This was a case-control study involving the offspring of T2D patients and controls without a parental history of T2D. Participants underwent clinical and laboratory evaluation, transient elastography (TE) by Fibroscan® (Echosens, Fr) and genotyping for PNPLA3 and TM6SF2. Multivariate logistic regression evaluated the influence of parental history of T2D on liver steatosis and fibrosis, controlled for age, gender, metabolic traits and SNPs. RESULTS: 161 T2D offspring and 78 controls, 10-46 years old, were included. The offspring of T2D had higher prevalences of obesity, T2D, arterial hypertension and sedentarism. Parental history of T2D was associated with fibrosis ≥ F2 (OR 8.89, CI 95% 1.09-72.01, p = 0.041) after adjustment for age, gender, metabolic traits and SNPs. PNPLA3 GG genotype was independently associated with steatosis ≥ S1 (OR 8.15, CI 95% 1.93-34.38, p = 0.004) and fibrosis ≥ F2 (OR 4.31, CI 95% 1.11-16.61, p = 0.034). CONCLUSIONS: The offspring of T2D patients present a worse metabolic profile and the parental history of T2D confers an increased likelihood of hepatic fibrosis, independent of metabolic factors. PNPLA3 homozygous GG, but not TM6SF2 genotypes, also impacts on this phenotype.

Evaluation of in-vitro susceptibility of ß-lactam-resistant Gram-negative bacilli to ceftazidime-avibactam and ceftolozane-tazobactam from clinical samples of a general hospital in southern Brazil.

BACKGROUND: The spread of carbapenemase- and extended-spectrum ß-lactamase (ESBL)-producing gram-negative bacilli (GNB) represent a global public health threat that limits therapeutic options for hospitalized patients. This study aimed to evaluate the in-vitro susceptibility of ß-lactam-resistant GNB to ceftazidime-avibactam (C/A) and ceftolozane-tazobactam (C/T), and investigate the molecular determinants of resistance. METHODS: Overall, 101 clinical isolates of Enterobacterales and Pseudomonas aeruginosa collected from a general hospital in Brazil were analyzed. Susceptibility to the antimicrobial agents was evaluated using an automated method, and the minimum inhibitory concentrations (MIC50/90) of C/A and C/T were determined using Etest®. The ß-lactamase-encoding genes were investigated using polymerase chain reaction. RESULTS: High susceptibility to C/A and C/T was observed among ESBL-producing Enterobacterales (100% and 97.3% for CLSI and 83.8% for BRCAST, respectively) and carbapenem-resistant P. aeruginosa (92.3% and 87.2%, respectively). Carbapenemase-producing Klebsiella pneumoniae exhibited high resistance to C/T (80%- CLSI or 100%- BRCAST) but high susceptibility to C/A (93.4%). All carbapenem-resistant K. pneumoniae isolates were susceptible to C/A, whereas only one isolate was susceptible to C/T. Both antimicrobials were inactive against metallo-ß-lactamase-producing K. pneumoniae isolates. Resistance genes were concomitantly identified in 44 (44.9%) isolates, with bla CTX-M and bla SHV being the most common. CONCLUSIONS: C/A and C/T were active against microorganisms with ß-lactam-resistant phenotypes, except when resistance was mediated by metallo-ß-lactamases. Most C/A- and C/T-resistant isolates concomitantly carried two or more ß-lactamase-encoding genes (62.5% and 77.4%, respectively).

Evaluation of in-vitro susceptibility of ß-lactam-resistant Gram-negative bacilli to ceftazidime-avibactam and ceftolozane-tazobactam from clinical samples of a general hospital in southern Brazil

ABSTRACT Background: The spread of carbapenemase- and extended-spectrum β-lactamase (ESBL)-producing gram-negative bacilli (GNB) represent a global public health threat that limits therapeutic options for hospitalized patients. This study aimed to evaluate the in-vitro susceptibility of β-lactam-resistant GNB to ceftazidime-avibactam (C/A) and ceftolozane-tazobactam (C/T), and investigate the molecular determinants of resistance. Methods: Overall, 101 clinical isolates of Enterobacterales and Pseudomonas aeruginosa collected from a general hospital in Brazil were analyzed. Susceptibility to the antimicrobial agents was evaluated using an automated method, and the minimum inhibitory concentrations (MIC50/90) of C/A and C/T were determined using Etest®. The β-lactamase-encoding genes were investigated using polymerase chain reaction. Results: High susceptibility to C/A and C/T was observed among ESBL-producing Enterobacterales (100% and 97.3% for CLSI and 83.8% for BRCAST, respectively) and carbapenem-resistant P. aeruginosa (92.3% and 87.2%, respectively). Carbapenemase-producing Klebsiella pneumoniae exhibited high resistance to C/T (80%- CLSI or 100%- BRCAST) but high susceptibility to C/A (93.4%). All carbapenem-resistant K. pneumoniae isolates were susceptible to C/A, whereas only one isolate was susceptible to C/T. Both antimicrobials were inactive against metallo-β-lactamase-producing K. pneumoniae isolates. Resistance genes were concomitantly identified in 44 (44.9%) isolates, with bla CTX-M and bla SHV being the most common. Conclusions: C/A and C/T were active against microorganisms with β-lactam-resistant phenotypes, except when resistance was mediated by metallo-β-lactamases. Most C/A- and C/T-resistant isolates concomitantly carried two or more β-lactamase-encoding genes (62.5% and 77.4%, respectively).

Incidência de Injúria Renal Aguda em Pacientes Críticos com COVID-19 e Sobrevida em 90 dias: Coorte Retrospectiva de Uma Unidade de Tratamento Intensivo Pública, Joinville/Brasil / Incidence of acute kidney injury in critically ill patients with COVID-19 and 90-day survival: Retrospective Cohort of a Public Intensive Care Unit, Joinville/Brazil

Cerca de um terço dos pacientes com COVID-19 em unidades de terapia intensiva (UTI) apresentam injúria renal aguda (IRA) dialítica. Poucos estudos têm avaliado a sobrevida de pacientes com IRA em UTI exclusivamente pública. O objetivo do estudo foi avaliar a sobrevida intra-hospitalar em 90 dias de pacientes com e sem IRA dialítica internados com COVID-19 grave. Trata-se de uma coorte histórica de um hospital geral em Joinville, Santa Catarina/Brasil. Foram incluídos todos os pacientes admitidos na UTI entre março e dezembro de 2020 com diagnóstico confirmado de COVID-19. Definiu-se IRA como a presença de alteração de função renal aguda com necessidade de hemodiálise. Utilizou-se modelo multivariado por regressão de Cox para avaliar a sobrevida de pacientes com e sem IRA dialítica. Os resultados do estudo demonstraram que dos 187 pacientes incluídos (55,5% homens) com média de idade de 62,8±13,6 anos, 37,4% apresentaram IRA dialítica. Pacientes com IRA dialítica usaram mais drogas vasoativas, tinham maior gravidade na admissão e maior mortalidade (84,3% vs. 63,2%; p=0,002) em relação àqueles sem IRA. O risco de morte nos pacientes com IRA foi maior (RR bruto= 1,60; IC 95% 1,13-2,26; p= 0,007). Após ajustes para idade, sexo, comorbidades e gravidade clínica, a presença de IRA dialítica se manteve associada a uma frequência maior de mortalidade em 90 dias (RR= 1,49; IC 95% 1,03-2.15; p=0,032). A sobrevida de pacientes com COVID-19 grave e IRA dialítica na amostra estudada foi menor em relação a UTIs privadas no Brasil, o que sugere desigualdades no sistema público.

About one third of patients with COVID-19 in intensive care units (ICU) have acute kidney injury (AKI) requiring dialysis. Few studies have evaluated the survival ratel of patients with AKI in exclusively public ICUs. The aim of this study was to evaluate the 90-day in-hospital survival of patients with and without AKI requiring dialysis hospitalized with severe COVID-19. This is a historical cohort of a general hospital in Joinville, Santa Catarina/Brazil. All patients admitted to the ICU between March and December of 2020 with a confirmed diagnosis of COVID-19 were included. AKI was defined by the presence of acute renal function alteration requiring hemodialysis. A multivariate Cox regression model was used to assess the survival of patients with and without AKI requiring dialysis. The results of the study showed that, of the 187 patients included (55.5% men) with a mean age of 62.8±13.6 years, 37.4% had AKI requiring dialysis. Patients with AKI requiring dialysis used more vasoactive drugs, had greater severity on admission and higher mortality rate (84.3% vs. 63.2%; p=0.002) compared to those without AKI. The risk of death in patients with AKI was higher (crude RR= 1.60; 95% CI 1.13-2.26; p= 0.007). After adjustments for age, sex, comorbidities and clinical severity, the presence of AKI requiring dialysis remained associated with a higher frequency of 90-day mortality (RR= 1.49; 95% CI 1.03-2.15; p=0.032). The survival of patients with severe COVID-19 and AKI requiring dialysis in the studied sample was lower compared to private ICUs in Brazil, which suggests inequalities in the public system.

Oral manifestations and injuries related to covid- 19: an experience report on the role of hospital dentistry / Manifestações orais e lesões relacionadas à covid-19: um relatório de experiência sobre o papel da odontologia hospitalar / Manifestaciones orales y lesiones relacionadas con covid- 19: un informe de experiencia sobre el papel de la odontología hospitalaria

SARS-COV-2 is transmitted among human beings by saliva droplets that come in direct contact with the oral cavity, nose, and eyes. Since the mouth is one of the anatomical sites primarily contaminated, oral manifestations have also been reported beyond the serious consequences inherent to progressive respiratory failure. This study aimed to identify oral manifestations possibly related to the infection by COVID-19 in hospitalized patients. A prospective study was carried out with patients diagnosed with COVID-19 in the period between March and June 2021, admitted to the Moderate COVID-19 Care Unit of the Hans Dieter Schmidt Regional Hospital, by applying a form and performing a clinical exam of the oral cavity. Out of all patients (n=45), 33.3% reported both olfactory (anosmia) and taste dysfunction (dysgeusia), with an average duration of 5.9 ±3.0 days. Regarding other oral manifestations evaluated, two patients reported dry and burning mouth and one patient reported a change in taste associated with plaque-like changes in the tongue. No patients presented ulcers or other lesions in the oral cavity. Olfactory and taste dysfunction were symptoms recognized of the novel coronavirus disease (COVID-19). However, the association with other oral manifestations is still controversy. Unfortunately, dentistry professionals are still not part of most teams in the hospital environment, mostly because of the lack of prioritization of dental care. Working with a multidisciplinary team may avoid possible systemic complications due to poor dental care.

Sars-COV-2 é transmitida entre os seres humanos por gotículas de saliva que entram em contato direto com a cavidade oral, nariz e olhos. Uma vez que a boca é um dos sítios anatômicos principalmente contaminados, as manifestações orais também foram relatadas para além das graves consequências inerentes à insuficiência respiratória progressiva. Este estudo teve como objetivo identificar manifestações orais possivelmente relacionadas à infecção por Covid-19 em pacientes hospitalizados. Foi realizado um estudo prospetivo com pacientes diagnosticados com Covid-19 no período entre março e junho de 2021, internados na Unidade de Atendimento Moderado contra a Covid-19 do Hospital Regional Hans Dieter Schmidt, aplicando um formulário e realizando um exame clínico da cavidade oral. De todos os pacientes (n=45), 33,3% relataram disfunção olfativa (anosmia) e gustativa (disgeusia), com duração média de 5,9 ±3,0 dias. Em relação a outras manifestações orais avaliadas, dois pacientes relataram boca seca e ardente e um paciente relatou alteração no paladar associada a alterações semelhantes a placas na língua. Nenhum paciente apresentou úlceras ou outras lesões na cavidade oral. Disfunção olfativa e gustativa foram sintomas reconhecidos do novo coronavírus (Covid-19). No entanto, a associação com outras manifestações orais ainda é controversa. Infelizmente, os profissionais de odontologia ainda não fazem parte da maioria das equipes do ambiente hospitalar, principalmente por causa da falta de priorização dos cuidados odontológicos. Trabalhar com uma equipe multidisciplinar pode evitar possíveis complicações sistêmicas devido a cuidados odontológicos deficientes.

SARS-COV-2 se transmite entre los seres humanos por las gotitas de saliva que entran en contacto directo con la cavidad oral, la nariz y los ojos. Dado que la boca es uno de los sitios anatómicos principalmente contaminados, también se han informado manifestaciones orales más allá de las consecuencias graves inherentes a la insuficiencia respiratoria progresiva. El objetivo de este estudio fue identificar las manifestaciones bucales posiblemente relacionadas con la infección por COVID-19 en pacientes hospitalizados. Se realizó un estudio prospectivo con pacientes diagnosticados de COVID-19 en el periodo comprendido entre marzo y junio de 2021, ingresados en la Unidad de Cuidados Moderados de COVID-19 del Hospital Regional Hans Dieter Schmidt, mediante la aplicación de un formulario y la realización de un examen clínico de la cavidad oral. De todos los pacientes (n=45), el 33,3% notificó tanto disfunción olfativa (anosmia) como gustativa (disgeusia), con una duración media de 5,9 ±3,0 días. En cuanto a las demás manifestaciones orales evaluadas, dos pacientes notificaron sequedad y ardor de boca y un paciente notificó un cambio en el gusto asociado a cambios en la lengua en forma de placa. Ningún paciente presentó úlceras u otras lesiones en la cavidad oral. La disfunción olfativa y gustativa fueron síntomas reconocidos de la nueva enfermedad por coronavirus (COVID-19). Sin embargo, la asociación con otras manifestaciones orales es aún controvertida. Desafortunadamente, los profesionales de la odontología todavía no son parte de la mayoría de los equipos en el entorno hospitalario, principalmente debido a la falta de priorización de la atención odontológica. Trabajar con un equipo multidisciplinario puede evitar posibles complicaciones sistémicas debido a la mala atención dental.

Urgent vs. planned peritoneal dialysis initiation: complications and outcomes in the first year of therapy / Diálise peritoneal de início urgente versus planejado: complicações e desfechos no primeiro ano de terapia

Abstract Introduction: Urgent-start peritoneal dialysis (US-PD) has been proposed as a safe modality of renal replacement therapy (RRT) for end-stage renal disease (ESRD) patients with an indication for emergency dialysis initiation. We aimed to compare the characteristics, 30-day complications, and clinical outcomes of US-PD and planned peritoneal dialysis (Plan-PD) patients over the first year of therapy. Methods: This was a single-center retrospective study that included incident adult patients followed for up to one year. US-PD was considered when incident patients started therapy within 7 days after Tenckhoff catheter implantation. Plan-PD group consisted of patients who started therapy after the breaking period (15 days). Mechanical and infectious complications were compared 30 days from PD initiation. Hospitalization and technique failure during the first 12 months on PD were assessed by Kaplan-Meier curves and the determinants were calculated by Cox regression models. Results: All patients starting PD between October/2016 and November/2019 who fulfilled the inclusion criteria were analyzed. We evaluated 137 patients (70 in the US-PD x 67 Plan-PD). The main complications in the first 30 days were catheter tip migration (7.5% Plan-PD x 4.3% US-PD - p= 0.49) and leakage (4.5% Plan-PD x 5.7% US-PD - p=0.74). Most catheters were placed using the Seldinger technique. The main cause of dropout was death in US-PD patients (15.7%) and transfer to HD in Plan-PD patients (13.4%). The occurrence of complications in the first 30 days was the only risk factor for dropout (OR = 2.9; 95% CI 1.1-7.5, p = 0.03). Hospitalization rates and technique survival were similar in both groups. Conclusion: The lack of significant differences in patients' outcomes between groups reinforces that PD is a safe and applicable dialysis method in patients who need immediate dialysis.

Resumo Introdução: A diálise peritoneal de início urgente (US-PD) foi proposta como modalidade segura de terapia renal substitutiva (TRS) para pacientes com doença renal em estágio 5 (DRC-5) com indicação de início de diálise de emergência. Buscamos comparar características, complicações em 30 dias e desfechos clínicos de pacientes em US-PD e diálise peritoneal planejada (DP-plan) no primeiro ano de terapia. Métodos: Estudo retrospectivo de centro único, que incluiu pacientes adultos incidentes em DP acompanhados por até um ano. Considerou-se US-PD quando os pacientes iniciaram terapia até 7 dias após implante do cateter Tenckhoff. O grupo DP-plan consistiu de pacientes iniciando terapia após período break-in (15 dias). Compararam-se complicações mecânicas e infecciosas 30 dias após o início da DP. Hospitalização e falha da técnica durante os primeiros 12 meses em terapia foram avaliados por curvas Kaplan-Meier e os seus determinantes foram analisados por modelos de regressão de Cox. Resultados: Analisaram-se todos os pacientes iniciando DP entre Outubro/2016-Novembro/2019 que preencheram os critérios de inclusão. Avaliamos 137 pacientes (70 US-PD x 67 DP-plan). As principais complicações nos primeiros 30 dias foram migração da ponta do cateter (7,5% DP-plan x 4,3% US-PD - p= 0,49) e extravasamento (4,5% DP-plan x 5,7% US-PD - p=0,74). A maioria dos cateteres foi implantada pela técnica de Seldinger. A principal causa de saída da terapia foi óbito em pacientes em US-PD (15,7%) e transferência para HD em pacientes em DP-plan (13,4%). A ocorrência de complicações nos primeiros 30 dias foi o único fator de risco para saída da terapia (OR = 2,9; IC 95% 1,1-7,5, p = 0,03). Taxas de hospitalização e sobrevida da técnica foram similares em ambos os grupos. Conclusão: A ausência de diferenças significativas nos desfechos dos pacientes entre os grupos reforça que DP é um método de diálise seguro e aplicável em pacientes que necessitam diálise imediata.

Demographic history differences between Hispanics and Brazilians imprint haplotype features.

Admixture is known to greatly impact the genetic landscape of a population and, while genetic variation underlying human phenotypes has been shown to differ among populations, studies on admixed subjects are still scarce. Latin American populations are the result of complex demographic history, such as 2 or 3-way admixing events, bottlenecks and/or expansions, and adaptive events unique to the American continent. To explore the impact of these events on the genetic structure of Latino populations, we evaluated the following haplotype features: linkage disequilibrium, shared identity by descent segments, runs of homozygosity, and extended haplotype homozygosity (integrated haplotype score) in Latinos represented in the 1000 Genome Project along with array data from 171 Brazilians sampled in the South and Southeast regions of Brazil. We found that linkage disequilibrium decay relates to the amount of American and African ancestry. The extent of identity by descent sharing positively correlates with historical effective population sizes, which we found to be steady or growing, except for Puerto Ricans and Colombians. Long runs of homozygosity, a particular instance of autozygosity, was only enriched in Peruvians and Native Americans. We used simulations to account for random sampling and linkage disequilibrium to filter positive selection indexes and found 244 unique markers under selection, 26 of which are common to 2 or more populations. Some markers exhibiting positive selection signals had estimated time to the most recent common ancestor consistent with human adaptation to the American continent. In conclusion, Latino populations present highly divergent haplotype characteristics that impact genetic architecture and underlie complex phenotypes.

Urgent vs. planned peritoneal dialysis initiation: complications and outcomes in the first year of therapy.

INTRODUCTION: Urgent-start peritoneal dialysis (US-PD) has been proposed as a safe modality of renal replacement therapy (RRT) for end-stage renal disease (ESRD) patients with an indication for emergency dialysis initiation. We aimed to compare the characteristics, 30-day complications, and clinical outcomes of US-PD and planned peritoneal dialysis (Plan-PD) patients over the first year of therapy. METHODS: This was a single-center retrospective study that included incident adult patients followed for up to one year. US-PD was considered when incident patients started therapy within 7 days after Tenckhoff catheter implantation. Plan-PD group consisted of patients who started therapy after the breaking period (15 days). Mechanical and infectious complications were compared 30 days from PD initiation. Hospitalization and technique failure during the first 12 months on PD were assessed by Kaplan-Meier curves and the determinants were calculated by Cox regression models. RESULTS: All patients starting PD between October/2016 and November/2019 who fulfilled the inclusion criteria were analyzed. We evaluated 137 patients (70 in the US-PD x 67 Plan-PD). The main complications in the first 30 days were catheter tip migration (7.5% Plan-PD x 4.3% US-PD - p= 0.49) and leakage (4.5% Plan-PD x 5.7% US-PD - p=0.74). Most catheters were placed using the Seldinger technique. The main cause of dropout was death in US-PD patients (15.7%) and transfer to HD in Plan-PD patients (13.4%). The occurrence of complications in the first 30 days was the only risk factor for dropout (OR = 2.9; 95% CI 1.1-7.5, p = 0.03). Hospitalization rates and technique survival were similar in both groups. CONCLUSION: The lack of significant differences in patients' outcomes between groups reinforces that PD is a safe and applicable dialysis method in patients who need immediate dialysis.

ABO blood group system and occurrence of ischemic stroke.

BACKGROUND: Ischemic stroke (IS) is a multifactorial disease that presents high rates of morbimortality in Brazil. Several studies proved that there is a link between the ABO blood group system and the occurrence of thrombotic events. Nonetheless, its association with IS is not well established. OBJECTIVE: For that reason, the purpose hereof was to investigate the relation between the ABO blood groups and the occurrence of IS in a Brazilian cohort of cerebrovascular diseases. METHODS: Five hundred and twenty-nine subjects were included over 12 months, from which 275 presented an IS episode and 254 composed the control group. Blood samples were drawn for direct and reverse serotyping. The control and IS groups were compared regarding the traditional risk factors and the distribution of the ABO blood groups. RESULTS: The IS group presented a higher prevalence of systemic arterial hypertension (SAH), diabetes mellitus, smoking habits, family history, cardiopathy, and sedentary lifestyle in comparison with the control group. The AB blood type prevailed among the patients (5.1 vs. 1.6%; p<0.05) and this group had more SAH cases in comparison with the O type group (92.9 vs. 67.3%; p<0.05). CONCLUSIONS: Our results suggest that the occurrence of IS is more frequent among patients of the AB blood type.

ABO blood group system and occurrence of ischemic stroke / Sistema ABO de grupos sanguíneos e ocorrência de acidente vascular cerebral isquêmico

ABSTRACT Background: Ischemic stroke (IS) is a multifactorial disease that presents high rates of morbimortality in Brazil. Several studies proved that there is a link between the ABO blood group system and the occurrence of thrombotic events. Nonetheless, its association with IS is not well established. Objective: For that reason, the purpose hereof was to investigate the relation between the ABO blood groups and the occurrence of IS in a Brazilian cohort of cerebrovascular diseases. Methods: Five hundred and twenty-nine subjects were included over 12 months, from which 275 presented an IS episode and 254 composed the control group. Blood samples were drawn for direct and reverse serotyping. The control and IS groups were compared regarding the traditional risk factors and the distribution of the ABO blood groups. Results: The IS group presented a higher prevalence of systemic arterial hypertension (SAH), diabetes mellitus, smoking habits, family history, cardiopathy, and sedentary lifestyle in comparison with the control group. The AB blood type prevailed among the patients (5.1 vs. 1.6%; p<0.05) and this group had more SAH cases in comparison with the O type group (92.9 vs. 67.3%; p<0.05). Conclusions: Our results suggest that the occurrence of IS is more frequent among patients of the AB blood type.

RESUMO Antecedentes: O acidente vascular cerebral isquêmico (AVCI) é uma doença multifatorial que apresenta altas taxas de morbimortalidade no Brasil. Vários estudos provaram que existe uma ligação entre o sistema ABO de grupos sanguíneos e a ocorrência de eventos trombóticos. No entanto, sua associação com AVCI não está bem estabelecida. Objetivo: Por essa razão, o objetivo deste trabalho foi investigar a relação entre os grupos sanguíneos ABO e a ocorrência de AVCI em uma coorte brasileira de doenças cerebrovasculares. Métodos: Ao longo de 12 meses foram incluídos 529 indivíduos, dos quais 275 apresentaram um episódio de AVCI e 254 compuseram o grupo controle. Amostras de sangue foram coletadas para sorotipagem direta e reversa. Os grupos controle e AVCI foram comparados em relação aos fatores de risco tradicionais e à distribuição dos grupos sanguíneos ABO. Resultados: O grupo AVCI apresentou maior prevalência de hipertensão arterial sistêmica (HAS), diabetes mellitus, tabagismo, história familiar, cardiopatia e estilo de vida sedentário em comparação ao grupo controle. O tipo sanguíneo AB prevaleceu entre os pacientes (5,1 vs. 1,6%; p<0,05) e apresentou mais casos de HAS em comparação ao tipo O (92,9 vs. 67,3%; p<0,05). Conclusões: Nossos resultados sugerem que a ocorrência de AVCI é mais frequente entre os pacientes do tipo sanguíneo AB.

Adiponectin and leptin gene variants and their effects on body weight trajectories in children from birth to 6 years of age: the PREDI Study.

Excess body weight confers a high risk to human health. Body weight variation between subjects can be partially explained by genetic differences. The aim of the present study was to investigate the association of genetic variants in the ADIPOQ (rs2241766) and LEP (rs7799039) genes with body weight trajectories in children from birth to 6 years of age. This was a prospective cohort (PREDI Study). Socio-economic, biological and anthropometric data were collected at four time points: at birth in the maternity unit; 1-2, 4-5 and 6 years old at the participants' homes. Genotyping was performed by PCR-restriction fragment length polymorphism. Poisson regression and linear mixed-effect regression models were used to address the association of ADIPOQ and LEP genotypes with BMI. Excessive body weight at pre-pregnancy (ß = 0·339, P = 0·01) and excessive gestational weight gain (ß = 0·51, P < 0·001) were associated with children's BMI trajectory from birth to 6 years. The ADIPOQ-rs2241766 TG or GG genotype was associated with a higher risk of excess body weight in the first 6 years of life (both sexes relative risk 1·25, 95 % CI 1·01, 1·56; female relative risk 1·67, 95 % CI 1·20, 2·31). BMI increased over the years according to the presence of the TG or GG genotype (ß = 0·01, 95 % CI 0·01, 0·02), particularly in females (ß = 0·02, 95 % CI 0·01, 0·04). The ADIPOQ-rs2241766 TG and GG genotypes increased the risk of excess body weight in children from birth to 6 years of age and had a positive effect on body weight trajectories in girls. The LEP-rs7799039 genetic variant was not associated with body weight trajectory in children.

Ischemic Stroke and Genetic Variants: In Search of Association with Severity and Recurrence in a Brazilian Population.

OBJECTIVE: The aim of this study was to investigate the relationship between genetic variants in candidate genes and clinical severity and prognosis (recurrence) of ischemic stroke (IS) in a Brazilian population. METHODS: This was a retrospective study based on clinical and demographic data retrieved from the JOINVASC cohort-Epidemiological Study on Cerebrovascular Diseases in Joinville and on respective DNA samples available at the Joinville Stroke Biobank, over the period 2010-2015. Four hundred and thirty-five subjects were included. Patients were divided into large artery atherosclerosis (195 cases) and cardioembolic IS (240 cases) subgroups according to Trial of Org 10172 in the Acute Stroke Treatment standards. The severity of the event was established from the score obtained using the National Institutes of Health Stroke Scale. The genotypic and allelic frequencies of each variant were acquired by Real-Time Polymerase Chain Reaction. The codominance model was considered for the analysis of the genotypes' influence. RESULTS: There was no association between clinical severity and recurrence with variants rs2383207 (CDKN2B-AS1) for atherothrombotic IS and variants rs879324 (ZFHX3), rs966221 (PDE4D), and rs152312 (PDE4D) for cardioembolic IS. The variants rs1396476, rs2910829, rs6843082, and rs2107595 were not in Hardy-Weinberg equilibrium in the evaluated population. CONCLUSIONS: Although this study failed to identify an association between genetic variants and clinical response variability, the need to carry out related studies with larger number of cases covering other populations and genetic variants remains, which would allow the uncovering of hypothetical genetic factors governing stroke outcomes and recurrence.

Perfil fenotípico de resistência à colistina e tigeciclina em um hospital público no Brasil / Phenotypical profile of colistin and tigecycline resistance in a public hospital in Brazil / Perfil fenotípico de resistencia a la colistina y tigeciclina en un hospital público de Brasil

Justificativa e objetivos: Infecções Relacionadas à Assistência à Saúde (IRAS) causadas por bacilos Gram negativos multirresistentes (BGN-MDR) são consideradas um problema de saúde pública e um impacto nas taxas de mortalidade nas Unidades de Terapia Intensiva (UTI). O objetivo deste estudo foi verificar o perfil fenotípico de resistência à colistina e à tigeciclina, consideradas como último recurso terapêutico aos BGN-MDR. Métodos: Os dados foram coletados nas fichas de busca ativa do serviço de controle de infecções e prontuários médicos de pacientes internados em duas UTIs de um hospital público de Joinville, entre janeiro de 2016 e junho de 2017. Resultados: Ocorreram 256 IRAS por BGN, acometendo principalmente o gênero masculino (62%), com mediana de idade de 65 anos. Entre os BGN, 37% expressaram MDR; sendo as espécies mais frequentes: Klebsiella pneumoniae e (47%), Acinetobacter baumannii (23%) e Stenotrophomonas maltophilia (11%). A resistência de BGN-MDR à colistina e tigeciclina foi de 5% e de 12%, respectivamente; 5% dos isolados foram resistentes aos dois antibióticos. A taxa de óbito entre os pacientes com IRAS por BGN-MDR resistentes à colistina foi mais alta (60%) que aquelas à tigeciclina (45%). Conclusão: K. pneumoniae e A. baumannii produtores de carbapenemases, resistentes a colistina e tigeciclina prevaleceram entre os BGN-MDR, e estiveram associadas a maioria dos óbitos. Essas observações, junto com o alto uso de carbapenêmicos na terapia empírica, mostra a necessidade do uso racional de antimicrobianos.(AU)

Background and objectives: Healthcare-associated Infections (HAIs) caused by multidrug-resistant Gram-negative bacilli (GNB-MDR) are considered a public health problem and have an impact on mortality rates in Intensive Care Units (ICU). The aim of this study was to verify the phenotypic profile of resistance to colistin and tigecycline, considered as the last antimicrobial choice to treat BGNMDR infections. Methods: Data were collected on the active search records of the infection control service and medical records of patients admitted to two ICUs at a public hospital in Joinville between January 2016 and June 2017. Results: There were 256 HAIs caused by GNB, mainly affecting males (62%), with a median age of 65 years. Among GNBs, 37% expressed MDR; the most frequent species were: Klebsiella pneumoniae (47%), Acinetobacter baumannii (23%) and Stenotrophomonas maltophilia (11%). The resistance of GNB-MDR to colistin and tigecycline was 5% and 12%, respectively; 5% of the isolates were resistant to both antibiotics. The death rate among patients with HAIs caused by colistin-resistant GNB-MDR was higher (60%) than those to tigecycline (45%). Conclusion: Carbapenemase-producing K. pneumoniae and A. baumannii, resistant to colistin and tigecycline, prevailed among GNB-MDRs, and were associated with most deaths. These observations, coupled with the high use of carbapenems in empirical therapy, show the need for rational use of antimicrobials.(AU)

Justificación y objetivos: Las Infección nosocomial (IHs) causadas por bacilos Gram negativos multirresistentes (BGN-MDR) se consideran un problema de salud pública y un impacto en las tasas de mortalidad en las Unidades de Terapia Intensiva (UTI). El objetivo de este estudio fue verificar el perfil fenotípico de resistencia a la colistina ya la tigeciclina, consideradas como último recurso terapéutico a los BGN-MDR. Métodos: Los datos fueron recolectados en las fichas de búsqueda activa del servicio de control de infecciones y prontuarios médicos de pacientes internados en dos UTIs de un hospital público de Joinville, entre enero de 2016 y junio de 2017. Resultados: Ocurrieron 256 IHs por BGN, que afectan principalmente al género masculino (62%), con mediana de edad de 65 años. Entre los BGN, el 37% expresó MDR; siendo las especies más frecuentes: Klebsiella pneumoniae (47%), Acinetobacter baumannii (23%) y Stenotrophomonas maltophilia (11%). La resistencia de BGN-MDR a la colistina y tigeciclina fue del 5% y del 12%, respectivamente; 5% de los aislados fueron resistentes a los dos antibióticos. La tasa de muerte entre los pacientes con IH causadas por los BGN-MDR resistentes la colistina fue más alta (60%) que aquellas a tigeciclina (45%). Conclusión: K. pneumoniae y A. baumannii productoras de carbapenemases, resistentes la colistina y la tigeciclina, fueron más frecuentes entre los BGN-MDR y su asociación estuvo presente en la mayoría de las muertes. Estas observaciones, junto con el alto uso de carbapenems en la terapia empírica, muestran la necesidad de un uso racional de los antimicrobianos.(AU)

Características e preditores de doença crítica crônica na unidade de terapia intensiva / Characteristics and predictors of chronic critical illness in the intensive care unit

RESUMO Objetivo: Caracterizar os pacientes com doença crítica crônica e identificar os preditores relacionados à evolução para doença crítica crônica. Métodos: Coleta prospectiva de dados por 1 ano realizada na unidade de terapia intensiva de um hospital geral localizado na Região Sul do país. Construíram-se três modelos de regressão logística para identificar os fatores associados com doença crítica crônica. Resultados: Dentre os 574 pacientes admitidos à unidade de terapia intensiva durante o período do estudo, 200 foram submetidos à ventilação mecânica. Destes, 85 (43,5%) pacientes desenvolveram doença crítica crônica, totalizando 14,8% de todos os pacientes admitidos à unidade de terapia intensiva. O modelo de regressão que avaliou os fatores prévios à admissão à unidade de terapia intensiva associados com doença crítica crônica identificou insuficiência renal crônica submetida à diálise (OR 3,57; p = 0,04) e diagnóstico neurológico quando da admissão ao hospital (OR 2,25; p = 0,008) como fatores independentes. No modelo que avaliou a associação de doença crítica crônica com situações ocorridas durante a permanência na unidade de terapia intensiva, destacaram-se fraqueza muscular (OR 2,86; p = 0,01) e úlceras por pressão (OR 9,54; p < 0,001). Na análise multivariada global (fatores prévios e situações ocorridas durante a permanência na unidade de terapia intensiva), destacaram-se admissão ao hospital por doenças neurológicas (OR 2,61; p = 0,03) e desenvolvimento de úlceras por pressão (OR 9,08; p < 0,001). Conclusão: A incidência de doença crítica crônica foi similar à observada em outros estudos e teve associação mais forte com o diagnóstico de doenças neurológicas quando da admissão ao hospital e insuficiência renal crônica submetida à hemodiálise, assim como com complicações desenvolvidas durante a hospitalização, como úlceras por pressão e fraqueza muscular.

ABSTRACT Objective: To characterize patients with chronic critical illness and identify predictors of development of chronic critical illness. Methods: Prospective data was collected for 1 year in the intensive care unit of a general hospital in Southern Brazil. Three logistic regression models were constructed to identify factors associated with chronic critical illness. Results: Among the 574 subjects admitted to the intensive care unit, 200 were submitted to mechanical ventilation. Of these patients, 85 (43.5%) developed chronic critical illness, composing 14.8% of all the patients admitted to the intensive care unit. The regression model that evaluated the association of chronic critical illness with conditions present prior to intensive care unit admission identified chronic renal failure in patients undergoing hemodialysis (OR 3.57; p = 0.04) and a neurological diagnosis at hospital admission (OR 2.25; p = 0.008) as independent factors. In the model that evaluated the association of chronic critical illness with situations that occurred during intensive care unit stay, muscle weakness (OR 2.86; p = 0.01) and pressure ulcers (OR 9.54; p < 0.001) had the strongest associations. In the global multivariate analysis (that assessed previous factors and situations that occurred in the intensive care unit), hospital admission due to neurological diseases (OR 2.61; p = 0.03) and the development of pressure ulcers (OR 9.08; p < 0.001) had the strongest associations. Conclusion: The incidence of chronic critical illness in this study was similar to that observed in other studies and had a strong association with the diagnosis of neurological diseases at hospital admission and chronic renal failure in patients undergoing hemodialysis, as well as complications developed during hospitalization, such as pressure ulcers and muscle weakness.

Earliest identification of New Delhi metallo-ß-lactamase 1 (NDM-1) in Acinetobacter pittii in Brazil.

We report the occurrence in Brazil of the bla NDM-1 gene in Acinetobacter pittii, prior to the previously described first reports regarding the species Providencia rettgeri and Enterobacter hormaechei. Clinical isolates were investigated by polymerase chain reaction followed by bidirectional sequencing, and species was confirmed by 16S rDNA sequencing and matrix-assisted laser desorption-ionization time-of-flight spectrometry. A. pittii carrying bla NDM-1 was confirmed in a patient with no national or international travel history, or transfer from another hospital. The findings warn of the possibility of silent spread of bla NDM-1 to the community.

Accuracy of Intraoperative Examination in Central Nervous System Lesions: A Study of 133 Cases.

OBJECTIVE: Intraoperative examination is a highly valuable tool for the evaluation of central nervous system (CNS) lesions, helping the neurosurgeon to determine the best surgical management. This study aimed to evaluate the accuracy and to analyze the diagnostic disagreements and pitfalls of the intraoperative examinations through correlation with the final histopathological diagnosis in CNS lesions. STUDY DESIGN: Retrospective analysis of intraoperative examination of CNS lesions and their final diagnosis obtained during 16 consecutive years. All diagnoses were reviewed and classified according to World Health Organization (WHO) grading for CNS tumors. Squash was performed in 119 cases, while frozen section and both methods were done in 7 cases each. RESULTS: Among the 133 intraoperative examinations considered, 114 (85.7%) presented concordance and 19 (14.3%) diagnostic disagreement when compared with subsequent histopathological examinations. The sensitivity and specificity for the detection of neoplasia in intraoperative examination was 98 and 94%, respectively. The positive and negative predictive values were 99 and 88%, respectively. The accuracy for neoplastic and nonneoplastic disease was 85.7%. Disagreements were more frequent among low-grade (WHO grades I and II) neoplasms and nonmalignant cases. CONCLUSIONS: Our results showed good accuracy of the intraoperative assessments for diagnosis of CNS lesions, particularly in high-grade (grades III and IV) lesions and metastatic neoplasms.

Association and interaction of genetic variants with occurrence of ischemic stroke among Brazilian patients.

Ischemic Stroke (IS) is a severe and complex disorder of high morbidity and mortality rates associated with clinical, environmental, and genetic predisposing factors. Despite previous studies have associated genetic variants to stroke, inconsistent results from different populations pointed to the genetic heterogeneity for IS. Therefore, we may hypothesize that an interaction effect among genetic variants could contribute to IS occurrence rather than genetic variants independently. In this context, we investigated the association and interaction between genetic variants and large-artery atherosclerosis IS (LAAS-IS) and cardioembolic IS (CE-IS). We genotyped 435 patients (195 LAAS-IS; 240 CE-IS) and 535 controls from a population of Joinville, Santa Catarina, Brazil. Association and interaction analysis were performed by chi-square test and Multifactor-dimensionality Reduction test. We found an association between rs2383207*A allele, nearby CDKN2B-AS1, and LAAS-IS [OR 2.35 (95% CI = 1.79-3.08); p = 4.66 × 10-10]. We found an interaction among rs2910829, rs966221 and rs152312, with an accuracy of 0.62 (p = 4.3 × 10-5) demonstrating the interaction effect among variants from different genes can contribute to CE-IS risk. Further prediction analysis confirmed that clinical information, such as hypertension and dyslipidemia, presented high accuracy to predict LAAS-IS (86.47%) and CE-IS (90.47%); however, the inclusion of genetic variant information did not increase the accuracy.