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The development of vaccinations has been game-changing in the ongoing effort to combat the COVID-19 pandemic. Until now, adverse effects are being reported at low frequency, including thrombocytopenia and myocarditis. Careful monitoring for any suspicious symptoms and signs following vaccination is necessary. We report a case of hemophagocytic lymphohistiocytosis (HLH) after mRNA COVID-19 vaccine in a 23-year-old female with ulcerative colitis. Diagnosis was made according to HLH-2004 criteria and the patient was treated with dexamethasone with response. Our report aimed to draw attention to the potential relation between COVID-19 vaccines and HLH and the necessity of continued surveillance, especially in at-risk populations such as those with underlying immune dysregulation.
O desenvolvimento de vacinas foi um ponto de viragem no combate contra a pandemia da COVID-19. Até ao momento, os efeitos adversos como a trombocitopenia e miocardite têm sido reportados com baixa frequência. A monitorização cuidadosa de qualquer sinal ou sintoma suspeitos é essencial. Reportamos um caso de linfohistiocitose hemofagocítica após vacinação contra a COVID-19 com uma vacina de mRNA, numa jovem de 23 anos com colite ulcerosa. O diagnóstico obedeceu os critérios HLH-2004 e a paciente foi tratada com dexametasona, com resposta. Pretendemos chamar à atenção para a potencial relação entre a vacinação para a COVID-19 e a HLH e a necessária contínua vigilância, especialmente em populações de maior risco, como as portadoras de doenças imuno-mediadas.
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Background The use of kidney donors with hepatitis C virus (HCV) has been arising as a possibility to increase the donor pool. It encompasses both the use of donors with positive and negative viremia, particularly since the advent of direct antiviral agents that produce sustained virologic response. Methodology We conducted a retrospective observational study to describe the experience of our transplantation center in the use of HCV antibody-positive (HCV-Ab+) kidneys. Results We performed five transplants with HCV-Ab+ donors. The median age of kidney recipients was 63 (interquartile range (IQR) = 54-71) years, and 60% (n = 3) were males. Two recipients received a second transplant. The median dialysis vintage was 1,414 (IQR = 1,103-2,806) days. The induction immunosuppression protocol was basiliximab in most patients (60%, n = 3), and all received maintenance immunosuppression with tacrolimus, mycophenolate mofetil, and prednisolone. One of the recipients had a personal history of cured HCV infection. Seroconversion occurred in half of the remaining patients, which was sustained during the follow-up. None of the patients developed HCV viremia. At the end of follow-up, mean creatinine and proteinuria were 1.45 ± 1.12 mg/dL and 0.099 ± 0.045 g/g, respectively. We did not observe any rejection episodes, need for dialysis, or recipient's death. Conclusions Our work aligns with the current literature that advocates that the use of these donors is safe and cost-effective and can be an effective strategy for expanding the donor pool and augmenting the transplantation volume. Seroconversion is a known risk whose mechanisms are not entirely understood, although it does not appear to be related to a higher transmission risk.
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A predictive model to estimate post-donation glomerular filtration rate (eGFR) and risk of CKD at 1-year was developed from a Toulouse-Rangueil cohort in 2017 and showed an excellent correlation to the observed 1-year post-donation eGFR. We retrospectively analyzed all living donor kidney transplants performed at a single center from 1998 to 2020. Observed eGFR using CKD-EPI formula at 1-year post-donation was compared to the predicted eGFR using the formula eGFR (CKD-EPI, mL/min/1.73 m2) = 31.71+ (0.521 × preoperative eGFR) - (0.314 × age). 333 donors were evaluated. A good correlation (Pearson r = 0.67; p < 0.001) and concordance (Bland-Altman plot with 95% limits of agreement -21.41-26.47 mL/min/1.73 m2; p < 0.001) between predicted and observed 1-year post-donation eGFR were observed. The area under the ROC curve showed a good discriminative ability of the formula in predicting observed CKD at 1-year post-donation (AUC = 0.83; 95% CI: 0.78-0.88; p < 0.001) with optimal cutoff corresponding to a predicted eGFR of 65.25 mL/min/1.73 m2 in which the sensibility and specificity to predict CKD were respectively 77% and 75%. The model was successfully validated in our cohort, a different European population. It represents a simple and accurate tool to assist in evaluating potential donors.
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Doadores Vivos , Insuficiência Renal Crônica , Humanos , Estudos Retrospectivos , Nefrectomia/efeitos adversos , Rim/fisiologia , Taxa de Filtração Glomerular , Insuficiência Renal Crônica/etiologia , Insuficiência Renal Crônica/cirurgiaRESUMO
Endometriosis is a relatively common gynecological condition in women of reproductive age. The rectosigmoid region is the most commonly affected segment when the gastrointestinal tract is involved. A differential diagnosis of colorectal neoplasia is difficult because of the similar clinical, endoscopic, and radiology findings. A 42-year-old female presented with abdominal distention and was subsequently diagnosed with a large bowel obstruction in the rectum. A temporary colostomy was performed, and endoscopy revealed a rectal mass obstructing the rectum. The biopsy showed normal mucosa, and it was difficult to exclude rectal malignancies even after the imaging workup. Endoscopic ultrasound demonstrated a hypoechoic lesion below the rectal mucosa, and fine needle aspiration confirmed the diagnosis of bowel endometriosis. Bowel endometriosis is a challenging diagnosis. Endoscopic ultrasound- guided fine-needle aspiration is useful for acquiring adequate samples for histological confirmation and a definitive diagnosis of bowel endometriosis.
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Endometriose , Neoplasias Retais , Humanos , Feminino , Adulto , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico , Endometriose/diagnóstico por imagem , Endometriose/patologia , Reto/patologia , Neoplasias Retais/diagnóstico , EndossonografiaRESUMO
Undifferentiated osteoclast-like giant cell carcinomas (UOLGCCs) of the digestive tract are very rare, with only a few cases reported in the literature. An 82-year-old man was referred to the emergency department for melena. Endoscopic examination revealed a hemicircumferential ulcerovegetative lesion, involving the bulbar apex and extending to the second portion of the duodenum; biopsies revealed an UOLGCC. The patient underwent transfusion support therapy, and he was proposed for best supportive care. Duodenal UOLGCC is an extremely rare cause of upper gastrointestinal bleeding. Clinical findings and therapeutic approach represent a challenge in this pathology.
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INTRODUCTION: Evidence supporting transmural remission (TR) as a long-term treatment target in Crohn's disease (CD) is still unavailable. Less stringent but more reachable targets such as isolated endoscopic (IER) or radiologic remission (IRR) may also be acceptable options in the long-term. METHODS: Multicenter retrospective study including 404 CD patients evaluated by magnetic resonance enterography and colonoscopy. Five-year rates of hospitalization, surgery, use of steroids, and treatment escalation were compared between patients with TR, IER, IRR, and no remission (NR). RESULTS: 20.8% of CD patients presented TR, 23.3% IER, 13.6% IRR and 42.3% NR. TR was associated with lower risk of hospitalization (odds-ratio [OR] 0.244 [0.111-0.538], p < 0.001), surgery (OR 0.132 [0.030-0.585], p = 0.008), steroid use (OR 0.283 [0.159-0.505], p < 0.001), and treatment escalation (OR 0.088 [0.044-0.176], p < 0.001) compared to no NR. IRR resulted in lower risk of hospitalization (OR 0.333 [0.143-0.777], p = 0.011) and treatment escalation (OR 0.260 [0.125-0.540], p < 0.001), while IER reduced the risk of steroid use (OR 0.442 [0.262-0.745], p = 0.002) and treatment escalation (OR 0.490 [0.259-0.925], p = 0.028) compared to NR. CONCLUSIONS: TR improved clinical outcomes over 5 years of follow-up in CD patients. Distinct but significant benefits were seen with IER and IRR. This suggests that both endoscopic and radiologic remission should be part of the treatment targets of CD.
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Doença de Crohn , Humanos , Doença de Crohn/diagnóstico por imagem , Doença de Crohn/tratamento farmacológico , Estudos Retrospectivos , Colonoscopia , Imageamento por Ressonância Magnética/métodos , Indução de RemissãoRESUMO
Extramammary Paget's disease is a rare cutaneous malignancy affecting areas with a high concentration of apocrine glands. The authors present a 77-year-old male followed in the General Surgery consultation due to anal pruritus complaints with an evolution of around 20 years and recent lower gastrointestinal bleeding. A colonoscopy was requested and the patient was observed by Gastroenterology team in this context. The objective examination showed an erythematous-whitish plaque with well-defined, slightly exudative and verrucous limits in the perianal region. Definitive diagnosis was possible by biopsy of the referred lesion carried out by Dermatology, and the histological findings were compatible with Paget's disease: intraepithelial infiltration by large atypical neoplastic cells and hypochromic halo and positive immunostaining for cytokeratin 7. Perianal Paget's disease, often underdiagnosed, may be associated with colorectal neoplasms. We present this case due to its rarity, in order to draw attention to this diagnosis.
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Adenocarcinoma , Doença de Paget Extramamária , Neoplasias Cutâneas , Masculino , Humanos , Idoso , Doença de Paget Extramamária/diagnóstico , Doença de Paget Extramamária/patologia , Doença de Paget Extramamária/cirurgia , Adenocarcinoma/patologiaRESUMO
In most cases, the atypical hemolytic uremic syndrome (aHUS) is a genetic disease resulting from defects in the regulation of the complement cascade, which conditions the development of thrombotic microangiopathy. Clinically, aHUS presents with acute kidney injury, thrombocytopenia, and microangiopathic hemolytic anemia, with frequent renal and extrarenal thrombotic phenomena. Early diagnosis and treatment are essential. Plasmapheresis is an alternative treatment being frequently used considering the high cost of eculizumab, despite its lower clinical efficacy. This article describes the clinical case of a patient admitted to intensive care with a personal history of aHUS diagnosed 10 years ago, with recurrent aHUS triggered by viral infection. The patient presented with acute kidney injury and thrombocytopenia. Despite the institution of admission of plasmapheresis, the clinical evolution was only favorable after the administration of eculizumab, highlighting the importance of early initiation of this therapy.
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Monoclonal gammopathy of renal significance (MGRS) is a group of pathologies that includes all kidney disorders related to a monoclonal protein in patients without diagnostic criteria for B-cell malignancies. There are multiple MGRS-associated kidney disorders, and more are still being discovered, which makes this diagnosis challenging. The relationship between monoclonal gammopathies and thrombotic microangiopathy (TMA) is of growing interest in literature. This article describes the case of a patient with newly diagnosed MGRS, presenting with rapidly progressing kidney failure and with histologic characteristics of TMA. The patient progressed to end-stage renal disease (ESRD) despite treatment with plasmapheresis and clone-directed therapy, as is currently advised in the literature. Although rare, the association between these two entities should not be unnoticed because of patients' renal and vital prognosis.
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Bezoars are aggregates of non-digestible material that accumulate in the gastrointestinal tract. They can be classified according to their composition, and phytobezoars (composed of vegetable or fruit fiber) is the most common type. They most often occur in patients with some risk factors, namely prior gastric surgery, neuropsychiatric, endocrine or other disorders that lead to abnormal gastric function, or poor gastric peristalsis. Bezoars may be asymptomatic but most commonly cause abdominal discomfort or pain, nausea, vomiting, fullness, difficulty in swallowing, or anorexia and weight loss. Upper GI endoscopy for both diagnostic and therapeutic purposes is key in the management of bezoars.
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Bezoares , Bezoares/complicações , Bezoares/diagnóstico por imagem , Bezoares/cirurgia , Hemorragia Gastrointestinal/etiologia , Humanos , Estômago , VômitoRESUMO
BACKGROUND AND AIMS: Changes in single microRNA (miRNA) expression have been associated with chemo-resistance in biliary tract cancers (BTCs). However, a global assessment of the dynamic role of the microRNome has never been performed to identify potential therapeutic targets that are functionally relevant in the BTC cell response to chemotherapy. APPROACH AND RESULTS: High-throughput screening (HTS) of 997 locked nucleic acid miRNA inhibitors was performed in six cholangiocarcinoma cell lines treated with cisplatin and gemcitabine (CG) seeking changes in cell viability. Validation experiments were performed with mirVana probes. MicroRNA and gene expression was assessed by TaqMan assay, RNA-sequencing, and in situ hybridization in four independent cohorts of human BTCs. Knockout of microRNA was achieved by CRISPR-CAS9 in CCLP cells (MIR1249KO) and tested for effects on chemotherapy sensitivity in vitro and in vivo. HTS revealed that MIR1249 inhibition enhanced chemotherapy sensitivity across all cell lines. MIR1249 expression was increased in 41% of cases in human BTCs. In validation experiments, MIR1249 inhibition did not alter cell viability in untreated or dimethyl sulfoxide-treated cells; however, it did increase the CG effect. MIR1249 expression was increased in CD133+ biliary cancer cells freshly isolated from the stem cell niche of human BTCs as well as in CD133+ chemo-resistant CCLP cells. MIR1249 modulated the chemotherapy-induced enrichment of CD133+ cells by controlling their clonal expansion through the Wnt-regulator FZD8. MIR1249KO cells had impaired expansion of the CD133+ subclone and its enrichment after chemotherapy, reduced expression of cancer stem cell markers, and increased chemosensitivity. MIR1249KO xenograft BTC models showed tumor shrinkage after exposure to weekly CG, whereas wild-type models showed only stable disease over treatment. CONCLUSIONS: MIR1249 mediates resistance to CG in BTCs and may be tested as a target for therapeutics.