Comprehensive characterization and building of National Registry of von Hippel-Lindau disease in Brazil.

BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder caused by pathogenic variants in VHL gene. The common manifestations include hemangioblastomas (HB) of the central nervous system (CNS) and retina (RH); pheochromocytoma (PHEO); clear cell renal cell carcinoma (ccRCC); pancreatic and renal cysts (PRC) and pancreatic neuroendocrine neoplasm (PNEN). METHODS: The first characterization of VHL in Brazil was published in 2003 and included 20 families with a history of VHL. The aim of this study was to expand the previous Brazilian cohort to include more families, as well as to collect prospectively both clinical and molecular characteristics of patients with VHL to build the VHL Brazilian Registry (VHLBR). Patients with VHL were selected through review of data from medical records of experts and from social networks of support for families with VHL in Brazil. RESULTS: A total of 142 subjects representing 62 unrelated Brazilian families with VHL were registered. The mean age of VHL onset was 28.78 years old and 128 individuals (90.1%) had at least one VHL-related lesion. CNS HB was the most common manifestation occurring in 91 (71%) patients, followed by multiple PRC (48.4%), RH (39.8%), ccRCC (28.9%), PHEO (12.5%) and PNEN (7.8%). Of the 97 subjects whose presence of VHL variants was confirmed, 51 (52.6%) had missense variants, 22 (22.7%) large deletions, 10 (10.3%) frameshift, 7 (7.2%) splice site, 4 (4.1%) nonsense and 3 (3.1%) in-frame deletions. Regarding surveillance, 115 (81%) participants had at least one physician responsible for their outpatient follow-up; however, 69 (60%) of them did not report a regular frequency of tests. CONCLUSION: We built the largest prospective VHLBR with organized collections of clinical and genetic data from families with VHL, which will be helpful to guide policies for VHL care and oncogenetics in Brazil. Although there have been improvements in diagnosis and clinical screening methods, VHL care in Brazil is still deficient, especially regarding surveillance and regular medical appointments with experts.

Administration of enteral nutrition and gastrointestinal complications in Covid-19 critical patients in prone position.

Background: The prone position (PP) used in the treatment of critically ill patients infected with SARS-CoV-2, may be a barrier to enteral nutrition (EN). This study aimed to analyze the effectiveness and complications of EN in the PP, as well as clinical outcomes. Methods: Prospective cohort study with patients in EN and coronavirus disease 2019 (COVID-19), on mechanical ventilation (MV), which whom needed or not PP. Gastrointestinal intolerances (GII) related to PP were evaluated, and correlated with possible confounding factors. EN, days on MV, Intensive Care Unit (ICU) length of stay, hospital length of stay, ventilator-associated pneumonia (VAP) and mortality were analyzed. The data were evaluated daily and compared prone group (PG=57) and supine group (SG=69). Results: The PP was associated with GII (P=0.000) and presented in 32 patients (26,44%) with no difference among groups. Association between epinephrine (P=0.003), vasopressin (P=0.018), and GII was observed. There was no difference between the total volume of enteral nutrition (TVEN) infused in the groups. However, the mean EN infused for the days when the patient was on PP was (70.0% ± 31.5) and for the days in supine position was (74.8% ± 27.3), P= 0.006. The PG had a longer time on MV (P=0.005) and ICU (P=0.003) and PP was associated with VAP (P=<0.001). The infused TVEN showed no association with VAP (P=0.09). Conclusion: PP was a determining factor in GII and proved to be a risk factor for VAP, but the EN protocol seems to have ensured an adequate EN supply in PP and be a safe alternative.

Nutritional profile of patients with chronic inflammatory diseases in the age of biologicals.

Tumor necrosis factor alpha (TNFα) has an important role in the body composition of patients with rheumatoid arthritis (RA), Crohn's disease (CD), and spondyloarthritis (SpA). We aimed to assess the nutritional profile of patients with RA, CD, and SpA undergoing remission with multiple therapies comparing to controls and to analyze the effect of anti-TNFα medications in the nutritional parameters of these patients. One hundred thirty-one patients were included: 44 with RA, 43 with CD, and 44 with SpA. Patients receiving anti-TNFα were compared with those receiving non-biological treatment as well as to controls. Nutritional profile included body mass index (BMI), waist circumference (WC), mid-upper arm circumference, and triceps skinfold measurement. Overweight and obesity were highly prevalent on three assessed groups. In patients with RA, BMI was > 25 kg/m2 in 74.9% patients and 49.2% controls (p < 0.0005); in CD, in 55.7% patients and 41.2% controls (p < 0.0001); and in SpA, in 68.1% patients and 43.5% controls (p < 0.0001). Central obesity was higher in all three disease groups when compared to healthy controls. There was no significant difference on nutritional parameters in patients using or not using anti-TNFα medications, except in patients with SpA, in which biologic therapy was significantly associated with lower BMI and WC, when compared to other therapies. Overweight, obesity, and elevated WC were more prevalent in patients with RA, CD, and SpA undergoing remission when compared to controls despite of used therapy. The use of biologic drugs in patients with SpA was associated with a lower BMI and lower WC.

Anemia por citomegalovírus em paciente com lúpus eritematoso sistêmico / Cytomegalovirus anemia in a systemic lupus erythematosus patient

Descrevemos um caso clínico de uma paciente lúpica com anemia refratária devido à infecção por Citomegalovírus (CMV) que obteve boa resposta ao tratamento com ganciclovir. Discutimos as diferentes etiologias de anemia em um paciente com Lúpus Eritamatoso Sistêmico (LES) e sua importância para o adequado tratamento do paciente. Descritores: Anemia; citomegalovírus (CMV); Lupus eritematosos sistêmico (LES)Cytomegalovirus anemia in a systemic lúpus erythematosus patient.

We describe a case of a lupus patient with a refractory anemia due to cytomegalovirus (CMV) infection with good response to treatment with ganciclovir. We also discuss the different etiologies of anemia in a patient with Systemic Lupus Erythematosus (SLE) and its importance for the proper treatment of the patient. Key words: Anemia, Systemic Lupus Erythematosus (SLE), cytomegalovirus (CMV).