A 63-year-old man with spells of reduced consciousness in the morning and a giant abdominal mass presented to our institution for a second opinion. Investigation revealed non-diabetic hypoinsulinemic hypoglycemic events. Removal of the abdominal mass solved the hypoglycemia. Anatomopathological examination confirmed a solitary fibrous tumor (SFT). Doege-Potter syndrome was diagnosed. Doege-Potter syndrome is a potentially life-threatening rare paraneoplastic syndrome characterized by recurrent hypoinsulinemic hypoglycemia due to the overproduction of a prohormone form of insulin-like growth factor-II (pro-IGF-II) from a solitary fibrous tumor. First, we describe the clinical, laboratory and radiologic findings of the case. Second, a brief literature review on Doege-Potter syndrome is provided.
Mastocytosis is a complex heterogenous multisystem disorder that is characterized by pathologic activation or accumulation of neoplastic mast cells (MCs) in one or more organs. This clonal MC expansion is often associated with a somatic gain-of-function mutation (D816V in most of the cases) in the KIT gene, encoding for the MC surface receptor KIT (CD117), a stem cell growth factor receptor. Based on clinical and biochemical criteria, the World Health Organization (WHO) divided mastocytosis into different subclasses. The exact prevalence of mastocytosis remains elusive, but it is estimated that the disease affects approximately 1 in 10,000 persons. The clinical presentation of mastocytosis varies significantly, ranging from asymptomatic patients to a life-threatening disease with multiple organ involvement, potentially leading to cytopenia, malabsorption, hepatosplenomegaly, lymphadenopathy, ascites or osteolytic bone lesions with pathological fractures. Patients with mastocytosis may experience symptoms related to release of MC mediators, such as flushing or diarrhea or even more severe symptoms such as anaphylaxis. Recently, a new genetic trait, hereditary alpha tryptasemia (HaT), was described which involves a copy number variation in the TPSAB1-gene. Its role as standalone multisystem syndrome is heavily debated. There is emerging evidence suggesting there might be a link between HaT and due to the increased prevalence of HaT in patients with SM. The aim of this review is to provide a practical roadmap for diagnosis and management of mastocytosis and its associated entities, since there are still many misconceptions about these topics.Abbreviations: AdvSM: Advanced systemic mastocytosis; ASM: Aggressive systemic mastocytosis; aST: acute serum tryptase; BM: Bone marrow; BMM: Bone marrow mastocytosis; bST: baseline serum tryptase; CM: Cutaneous mastocytosis; DCM: Diffuse cutaneous mastocytosis; HVA: Hymenoptera venom allergy; HaT: Hereditary alpha tryptasemia; ISM: Indolent systemic mastocytosis; MC: Mast cell; MCA: Mast cell activation; MCAS: Mast cell activation syndrome; MCL: Mast cell leukemia; MIS: Mastocytosis in the skin; MMAS: Monoclonal mast cell activation syndrome; MPCM: Maculopapular cutaneous mastocytosis; SM: Systemic mastocytosis; SM-AHN: Systemic mastocytosis with associated hematological neoplasm; SSM: Smouldering systemic mastocytosis; VIT: Venom immunotherapy.
Background: To examine safety and efficacy of tezacaftor-ivacaftor (TEZ/IVA) in a real-life setting in adults living with cystic fibrosis.
Methods: A multicentre retrospective observational study, including adults living with cystic fibrosis (pwCF) eligible for TEZ/IVA, with assessments at baseline, 3 months (visit3mo) and 6 months (visit6mo) after start of treatment. Outcomes included change in FEV1, LCI, FeNO, CFQ-R, estimated number of annual acute exacerbations, BMI, dosage of pancreatic enzyme replacement therapy (PERT) and airway microbiology. We also assessed safety.
Results: Forty-eight adult pwCF (mean (±SD) age 33 (±12) years; mean FEV1 65 (±19) %P) were included. Three subgroups were identified: pwCF F/F CFTR modulator-naive (n = 28; 58%), pwCF F/F previously treated with lumacaftor-ivacaftor (n = 11; 23%) and pwCF F/RF (n = 9; 19%). Adverse events were described in 3 pwCF (6%) during the 6-month observation period (in one leading to treatment interruption). At visit3mo, FEV1 had improved in all subgroups. In the entire group, mean FEV1 had increased from 66 (±2.9) %P to 72 (±2.9) %P (p < 0.0001). Similarly, LCI improved by approximately one unit at visit3mo (p = 0.02). At visit6mo mean annual acute exacerbation rate decreased significantly (p = 0.02). Only in the CFQ-R social functioning domain score, a significant improvement was observed at visit6mo (p < 0.01).
Conclusions: We showed that TEZ/IVA is safe, well tolerated and effective in terms of improvement of lung function, ventilation inhomogeneity, health-related social functioning, and reduction of estimated annual acute exacerbation rate, in adult pwCF F/F and F/RF. Results in this real-life study reflect those observed in RCTs.
Background: Epidemiologic data regarding chronic hepatitis B virus infections in Israel is limited as extensive population-based studies have not been performed.
Objective: This work aimed to evaluate the current characteristics of hepatitis B infection among Israeli adults and evaluate adherence to the European Association for the Study of the Liver practice guidelines for antiviral treatment.
Methods: Clinical and demographic data of HBsAg-positive patients registered in the Leumit-Health-Service database (one of the four major health maintenance organizations in Israel) between 2000 and 2019 were retrieved. Patients were compared according to eligibility to antiviral treatment and type of nucleos(t)ide analogue (NA) treatment.
Results: In total, 1216 patients had documented HBsAg positivity (males 58.6%, mean age 40.2 ± 14.2 years), 90.6% of whom were HBeAg negative. Antiviral therapy eligibility was met by 37% of patients, among whom 89% received antiviral therapy. Antiviral therapies include NA with a high barrier to resistance (HBR) (64.5%) and NA with a low barrier to resistance (LBR) (35.5%). Compared to patients who received LBR NA, patients receiving HBR NA had shorter treatment (68.7 ± 50 vs. 161.5 ± 42.6 months, p < .001) and follow-up duration (125 ± 68 vs. 188 ± 48 months, p < .001); at the end of follow-up, ALT levels and APRI score were higher among patients on LBR NA compared to patients on HBR NA.
Conclusion: Most patients received antiviral treatment according to the international practice guidelines. However, one-third of them were treated with a less potent NA, probably due to their lower cost. These findings should encourage the optimization of HBV care and full compliance with the professional practice guideline recommendations.
Context: Since the introduction of direct oral anticoagulants (DOACs) for the treatment of nonvalvular atrial fibrillation (Afib), oral anticoagulants (OACs) prescription has evolved.
Aim: We aim first to explore the OACs prescription behaviour in Flanders from 2002 to 2019 before exploring the impact of switching patients from vitamin K antagonists (VKAs) to DOACs in terms of the burden caused by stroke as a complication of non-valvular Afib.
Methods: Data were obtained from INTEGO, a Flemish, general practice-based morbidity registration network. Comprised patients had at least one visit to their GP per year between 2002 and 2019 and a follow-up of at least 1 year after the diagnosis of Afib. Public prices were retrieved from the Belgian Centre for Pharmacotherapeutic Information (BCFI) and the National Institute for Health and Disability Insurance (RIZIV/ INAMI) sites. The number of Disability-Adjusted Life Years (DALYs) was based on the Global Burden of Disease (GBD) literature. The calculation of the Number Needed to Switch (NNSw) was the basis for conducting cost-utility analyses accounting for the global benefit in terms of the cost of prevented stroke/DALY and the cost of switching Flemish ≥ 65 years patients from VKAs to DOACs in two scenarios.
Results: Increased DOAC use has been observed since 2012. The incremental cost effectiveness ratios (ICERs) yielded 553 to 824 €/DALY of prevented stroke.
Conclusion: In this registry-based study, we found a significant positive trend in OAC use in Flanders between 2002 and 2019. Switching to DOACs seems cost-effective compared to a threshold of 20000€/DALY.
Objective: Rhabdomyolysis induced by an RSV infection is a clinical entity.
Case presentation: A few years ago, one case of severe rhabdomyolysis associated with RSV was described. We present the case of an 18-year-old patient without relevant medical history with a nearly asymptomatic presentation of severe rhabdomyolysis induced by an RSV infection. He consulted the primary physician because of a cough with purulent sputa. A routine blood sample showed elevated creatine kinase levels and the patient was hospitalized. An extensive work-up could exclude other causes of rhabdomyolysis. Creatine kinase levels showed a spontaneous decrease.
Conclusion: This case report highlights an important but very rare presentation of rhabdomyolysis associated with RSV in an adult patient. RSV should be considered as a possible etiological agent for rhabdomyolysis.
Introduction: In older adults, prognostic performances of admission biomarkers have been poorly investigated. This study aims to compare the prognostic abilities of usual admission biomarkers, especially PCT and CRP, for major clinical outcomes, comparing older to younger adults diagnosed with an infection in the ED, and to investigate the prognostic abilities of PCT and CRP depending on the glomerular filtration rate (GFR).
Methods: It was an observational, single-center, retrospective study, conducted in the Reims University Hospital, France. Endpoints were bacteremia, septic shock, and in-hospital mortality, related to the same ED visit.
Results: Over 1 year, 852 patients were included with 291 (34.2%) ≥75 years, and 127 (15.3%) patients had a GFR <30 mL.min-1.1.73 m2. Overall, 74 bacteremia, 56 septic shock and 82 in-hospital deaths have been observed. Prognostic abilities of admission biomarkers tended to be systematically lower in older compared to younger adults (PCT and CRP AUROC for bacteremia were, respectively, 0.71 and 0.62 in older adults vs 0.75 and 0.70 in younger adults; PCT and CRP AUROC for septic shock were, respectively, 0.71 and 0.66 in older adults vs 0.82 and 0.68 in younger adults). PCT showed a significant discriminating power for septic shock and in-hospital mortality only for GFR ≥ 30, and CRP showed a significant discriminating power for bacteremia and septic shock only for GFR ≥60.
Conclusion: Caution must be taken when interpreting admission biomarkers, as their prognostic abilities are lower in older adults or in patients with renal insufficiency diagnosed with an infection.
Background: Diabetes mellitus is a major global public health problem. Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) is a key laboratory index in the assessment of insulin resistance. The calculation of HOMA-IR and its updated version HOMA2-IR are partly based on plasma glucose determinations, which are prone to important pre-analytical errors. As glycated hemoglobin (Hb) fractions strongly correlate with fasting glucose levels and are more stable analytes, we explored the possibilities of using glycated Hb fractions for calculating HOMA-IR.
Methods: Labile Hb and HbA1c fractions were simultaneously assayed on a Tosoh G8 analyzer and expressed as %. Fasting glucose was measured in fluoride plasma using a hexokinase method. A Lumipulse G1200 luminescence immunoassay was used to measure serum insulin. The HOMA-IR and HOMA2-IR values were compared to corresponding indices calculated using glucose and glycated Hb fractions.
Results: Labile Hb could be measured with between-run CVs of 2.2-2.3%. Labile Hb correlated with both glycemia (r = 0.80) and HbA1c results (r = 0.73). HbA1c-derived estimated average glucose (eAG)-based HOMA calculation correlated very well with HOMA-IR (r2 = 0.9972). Based on eAG calculations, HOMA2-IR (%B, %S, and IR) gave comparable results, as compared to labile Hb-based calculations, in particular for fasting plasma glucose values between 4.44 and 6.67 mmol/L.
Conclusions: HbA1c and eAG are practical alternatives for glucose for estimating HOMA-IR. The use of glycated Hb enables home sampling for HOMA-IR and HOMA2-IR calculation.
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