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Reducing Tacrolimus Levels to Improve Cognitive Function in Kidney Transplant Recipients.
No full textWhole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity.
No full textAims: This study is aimed at comparing whole exome sequencing (WES) data with the clinical presentation in children with type 1 diabetes onset ≤ 5 years of age (EOT1D). Methods: WES was performed in 99 unrelated children with EOT1D with subsequent analysis to identify potentially deleterious rare variants in MODY genes. High-resolution HLA class II haplotyping, SNP genotyping, and T1D-genetic risk score (T1D-GRS) were also evaluated.
Results: Eight of the ninety-nine EOT1D participants carried a potentially deleterious rare variant in a MODY gene. Rare variants affected five genes: GCK (n = 1), HNF1B (n = 2), HNF4A (n = 1), PDX1 (n = 2), and RFX6 (n = 2). At diagnosis, these children had a mean age of 3.0 years, a mean HbA1c of 10.5%, a detectable C-peptide in 5/8, and a positive islet autoantibody in 6/7. Children with MODY variants tend to exhibit a lower number of pancreatic autoantibodies and a lower fasting C-peptide compared to EOT1D without MODY rare variants. They also carried at least one high-risk DR3-DQ2 or DR4-DQ8 haplotype and exhibited a T1D-GRS similar to the other individuals in the EOT1D cohort, but higher than healthy controls.
Conclusions: WES found potentially deleterious rare variants in MODY genes in 8.1% of EOT1D, occurring in the context of a T1D genetic background. Such genetic variants may contribute to disease precipitation by a β-cell dysfunction mechanism. This supports the concept of different endotypes of T1D, and WES at T1D onset may be a prerequisite for the implementation of precision therapies in children with autoimmune diabetes
Quem é o Analista que Sonha o Paciente e quem é o Supervisor que Compreende o Sonho: o Terceiro em Supervisão
No full textRESUMO: Neste artigo, procura-se explorar o desenvolvimento em paralelo das ideias acerca da supervisão em Psicanálise e a emergência do conceito de terceiro analítico. Embora este conceito só tenha assumido uma referência concreta nos trabalhos de Grotstein (1979, 2000) e de Ogden (1994), ele já estaria presente na mente e no trabalho clínico de vários psicanalistas, como se procura demonstrar através da exploração de vários triângulos psicanalíticos.
Salienta-se a importância do conceito de processo paralelo na supervisão, processo inconsciente que leva a que seja reproduzida na situação de supervisão a situação analítica, possibilitando ao supervisor identificar os aspetos que ainda não estão compreendidos pelo supervisando. Desse modo, o supervisor tem de ser quem sonha o sonho ainda não sonhado pelo supervisando, para que este por sua vez possa ajudar o paciente a sonhar
COVID-19 Vaccination in Liver Cirrhosis: Safety and Immune and Clinical Responses.
No full textIntroduction: Three years after the beginning of the SARS-CoV-2 pandemic, the safety and efficacy of COVID-19 vaccination in liver cirrhosis (LC) patients remain controversial. We aimed to study the safety, immunological, and clinical responses of LC patients to COVID-19 vaccination.
Methods: Prospective multicentric study in adults with LC eligible for COVID-19 vaccination, without prior known infection. Patients were followed up until the timing of a booster dose, SARS-CoV-2 infection, or death. Spike-protein immunoglobulin G antibody titers for SARS-CoV-2 at 2 weeks, 3 months, and 6 months postvaccination were assessed. Antibody titers <33.8 binding antibody units (BAU)/mL were considered seronegative and <200 BAU/mL suboptimal. Postvaccination infection and its severity were registered.
Results: We included 124 LC patients, 81% males, mean aged 61 ± 10 years, with a mean follow-up of 221 ± 26 days. Alcohol was the most common (61%) cause of cirrhosis, and 7% were under immunosuppressants for autoimmune hepatitis; 69% had portal hypertension, 42% had a previous decompensation, and 21% had a Child-Pugh-Turcotte score of B/C. The type of vaccine administrated was BNT162b2 (n = 59, 48%), ChAdOx1nCoV-19 (n = 45, 36%), mRNA-1273 (n = 14, 11%), and Ad26.COV2.S (n = 6, 5%). Eighteen percent of the patients reported adverse events after vaccination, none serious. Median [Q1; Q3] antibody titers were 1,185 [280; 2,080] BAU/mL at 2 weeks, 301 [72; 1,175] BAU/mL at 3 months, and 192 [49; 656] BAU/mL at 6 months. There were seronegative and suboptimal antibody responses in 8% and 23% of the patients at 2 weeks, 16% and 38% at 3 months, and 22% and 48% at 6 months. Older age and adenovirus vector vaccines were the only factors associated with seronegative and suboptimal responses at 2 weeks and 3 months (p 200 BAU/mL at 3 months.
Conclusion: COVID-19 vaccines in patients with LC were safe, without serious adverse events. The humoral and clinical responses were similar to the reported for the general population. Humoral response was adversely impacted by older age and adenovirus vector vaccines and unrelated to the liver disease severity.Introdução: Três anos após o início da pandemia SARS-CoV-2, a segurança e eficácia da vacinação COVID-19 em doentes com cirrose hepática (CH) permanecem controversas. Pretendemos avaliar a segurança, respostas imunológica e clínica de doentes com CH às vacinas contra a COVID-19.
Métodos: Estudo prospetivo multicêntrico em adultos com CH elegíveis para vacinação contra a COVID-19, sem infeção prévia conhecida. Os doentes foram acompanhados até ao momento da dose de reforço, infeção SARS-CoV-2 ou falecimento. Avaliámos os títulos de anticorpos IgG da proteína-Spike SARS-CoV-2 às 2 semanas, 3 meses e 6 meses. Títulos de anticorpos <33.8 BAU/mL foram considerados seronegativos e <200 BAU/mL subótimos. A ocorrência de infeção pós-vacinação e respetiva gravidade foram registadas.
Resultados: Incluímos 124 doentes com CH, 81% homens, com idade média de 61 ± 10 anos e um seguimento médio de 221 ± 26 dias. A causa mais prevalente de cirrose foi o álcool (61%) e 7% dos doentes faziam terapêutica imunossupressora por hepatite autoimune. Existiam sinais de hipertensão portal em 69%, descompensação prévia em 42% e classificação de Child-Pugh-Turcotte B/C em 21%. O tipo de vacina administrada foi: BNT162b2 (n = 59, 48%), ChAdOx1nCoV-19 (n = 45, 36%), mRNA-1273 (n = 14, 11%) e Ad26.COV2.S (n = 6, 5%). Foram reportados efeitos adversos pós-vacinação em 18% dos participantes, nenhum deles grave. Os títulos medianos [Q1; Q3] de anticorpos foram 1.185 [280; 2.080] BAU/mL às 2 semanas, 301 [72; 1.175] BAU/mL aos 3 meses e 192 [49; 656] BAU/mL aos 6 meses. Observámos respostas humorais seronegativas e subótimas em 8% e 23% dos doentes às 2 semanas, 16% e 38% aos 3 meses e 22% e 48% aos 6 meses. A idade avançada e vacinas de vetor de adenovírus foram os únicos fatores associados a respostas seronegativas e subótimas às 2 semanas e 3 meses (p 200 BAU/mL aos 3 meses.
Conclusões: A vacinação contra a COVID-19 em doentes com CH foi segura, sem efeitos adversos graves. As respostas humoral e clínica foram semelhantes às reportadas na população geral. A resposta humoral foi afetada negativamente pela idade avançada e vacinas de vetor de adenovírus e não apresentou relação com a gravidade da doença hepática
Intensive Care Unit Caseload and Workload and Their Association With Outcomes in Critically Unwell Patients: a Large Registry-Based Cohort Analysis.
No full textBackground: Too high or too low patient volumes and work amounts may overwhelm health care professionals and obstruct processes or lead to inadequate personnel routine and process flow. We sought to evaluate, whether an association between current caseload, current workload, and outcomes exists in intensive care units (ICU).
Methods: Retrospective cohort analysis of data from an Austrian ICU registry. Data on patients aged ≥ 18 years admitted to 144 Austrian ICUs between 2013 and 2022 were included. A Cox proportional hazards model with ICU mortality as the outcome of interest adjusted with patients' respective SAPS 3, current ICU caseload (measured by ICU occupancy rates), and current ICU workload (measured by median TISS-28 per ICU) as time-dependent covariables was constructed. Subgroup analyses were performed for types of ICUs, hospital care level, and pre-COVID or intra-COVID period.
Results: 415 584 patient admissions to 144 ICUs were analysed. Compared to ICU caseloads of 76 to 100%, there was no significant relationship between overuse of ICU capacity and risk of death [HR (95% CI) 1.06 (0.99-1.15), p = 0.110 for > 100%], but for lower utilisation [1.09 (1.02-1.16), p = 0.008 for ≤ 50% and 1.10 (1.05-1.15), p 100% between 2020 and 2022 [1.18 (1.06-1.30), p = 0.001], i.e., the intra-COVID period. Compared to the reference category of median TISS-28 21-30, lower [0.88 (0.78-0.99), p = 0.049 for ≤ 20], but not higher workloads were significantly associated with risk of death. High workload may be associated with higher mortality in local hospitals [1.09 (1.01-1.19), p = 0.035 for 31-40, 1.28 (1.02-1.60), p = 0.033 for > 40].
Conclusions: In a system with comparably high intensive care resources and mandatory staffing levels, patients' survival chances are generally not affected by high intensive care unit caseload and workload. However, extraordinary circumstances, such as the COVID-19 pandemic, may lead to higher risk of death, if planned capacities are exceeded. High workload in ICUs in smaller hospitals with lower staffing levels may be associated with increased risk of death
A Glimpse into an Editorial Training Program: From the Kidney360 Editorial Program Trainees.
No full textAmyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia.
No full textAmyotrophic lateral sclerosis is a fatal neurodegenerative disorder that affects upper and lower motor neurons. SOD1 mutations are the second most commonly found in familial and sporadic cases. We describe a patient with a homozygous pathogenic mutation in SOD1 gene that presented with a progressive cerebellar ataxia and ultimately developed a complex phenotype of cerebellar ataxia and motor neuron disease. The linkage between the cerebellum and ALS is shortly discussed
Epifisiólise Proximal do Úmero como Causa Rara de Fratura no Parto – Relato de Caso.
No full textA epifisiólise proximal do úmero (EPU) é rara, presente em10,1/100.000 nascimentos e há poucos casos descritos na literatura. Apresentamos o caso de um recém-nascido com diagnóstico de EPU submetido a tratamento conservador. Em seis semanas apresentava mobilidade completa e extenso calo ósseo. Sendo uma situação muito
rara, é imperativo um diagnóstico rápido, para o qual a ecografia é decisiva e a abordagem deve ser conservadora e expectante, dada uma evolução muito rápida e
esperada no sentido da consolidação para a função normal. Este caso reforça o conhecimento prévio de que essas lesões normalmente evoluem favoravelmente e
não são esperadas sequelas pós-traumáticasProximal humeral epiphysiolysis (PHE) are rare at 10.1/100,000 births and there are few cases described in the literature. We present the case of a newborn diagnosed with PHE submitted to conservative treatment. In six weeks he had complete mobility and extensive bone callus. As a very rare situation, rapid diagnosis is imperative, for which ultrasound is decisive and the attitude must be conservative and expectant, given a very rapid and expected evolution towards consolidation for normal function. This case reinforces the previous knowledge that these lesions typically evolve favorably, and post-traumatic sequelae are not expected
The Portuguese Version of the Self-Report Form of the DSM-5 Level of Personality Functioning Scale (LPFS-SR) in a Community and Clinical Sample.
No full textThe Level of Personality Functioning Scale-Self-Report (LPFS-SR) operationalizes Criterion A of the DSM-5 Alternative Model for Personality Disorders. The current study aimed 1) to examine the internal consistency of the Portuguese version of the LPFS-SR in a community sample and a clinical sample, 2) to compare non-clinical participants (N = 282, Mage = 48.01, SD = 10.87) with two samples of clinical participants, one composed of patients with a personality disorder diagnosis (PD sample, n = 40, Mage = 46.18, SD = 13.59) and the other of patients with other psychiatric diagnoses (OD sample, n = 148, Mage = 49.49, SD = 11.88), with respect to LPFS-SR dimensions and total score, 3) to examine the capacity of the LPFS-SR to discriminate between samples through the ROC curve analyses, and 4) to examine the factor structure of the Portuguese version of the LPFS-SR. The Portuguese version of the LPFS-SR revealed adequate internal consistency results, akin to the original data, in the community and clinical samples. The community sample differed significantly from both clinical samples in all the LPFS-SR dimensions and total score. The ROC curve analysis indicated an optimal cut-off for the total score of 272.00, corresponding to a sensitivity of 75% and a specificity of 89%, in the PD vs. community samples. The LPFS-SR total score discriminative capacity between the PD and OD samples was lower, albeit also significant (area-under-the-curve of .63; p = .027; 95% CI: .52-.74). The current study provided evidence of the LPFS-SR's unidimensionality in both community and clinical samples. Although this study has limitations, its findings contribute to a deeper understanding of the LPFS-SR construct, as well as to its cross-cultural validation
Doença Atópica do Compartimento Central
No full textObjetivos: Sistematizar a evidência científica existente em relação à patologia “Doença Atópica do Compartimento Central” (DACC).
Desenho do Estudo: Revisão Bibliográfica Sistemática.
Material e Métodos: Realização de uma revisão bibliográfica sistemática nas bases de dados MEDLINE, Cochrane Central Register of Controlled Trials e Cumulative Index to Nursing and Allied Health Literature, baseada no modelo PRISMA (Preferred Reporting Items for Systematic Reviews and MetaAnalyses), selecionando trabalhos publicados entre janeiro de 2010 e dezembro de 2022.
Resultados: Dos 3114 estudos inicialmente encontrados, foram selecionados para análise na integra um total de 13 artigos. Mais de metade dos artigos (69.2%) foram publicados a partir do ano de 2019, inclusive. Um total de 1780 doentes com RSC foi analisado. Destes, o número de doentes com DACC foi 372 (20.9%), com um rácio masculino: feminino de 2.16. Identificaram-se como comorbilidades a rinite alérgica (98,5%), a asma
(25.2%) e o tabagismo (8.2%).
Conclusões: DACC representa uma variante de RSC descrita pela primeira vez em 2017. Está associada à exposição a alergénios inalatórios e com repercussões edematosas e polipóides nos cornetos médios e superiores, bem como na região postero-superior do septo nasal. A base da gestão desta patologia é o tratamento médico da alergia, complementado, se necessário, com cirurgia endoscópica nasossinusal.info:eu-repo/semantics/publishedVersio