Listeria-Associated Lymphadenitis: A Series of 11 Consecutive Cases and Review of the Literature

We studied 11 cases of culture-proven Listeria-associated lymphadenitis reported to the French National Reference Center for Listeria from 1994 to 2019 and 8 additional published cases. Listeria-associated lymphadenitis is rare, but it is associated with a mortality as high as for invasive listeriosis, and it is frequently diagnosed with concomitant neoplasia.

Characterization of The Portuguese Population Diagnosed With Retinoblastoma

PurposeThe purpose of this study is to characterize demographically and genetically the Portuguese population with retinoblastoma; to report the clinical stage at presentation and its impact on survival and ocular preservation rate and, finally, to assess the incidence of retinoblastoma in Portugal.MethodsCohort retrospective observational study including children consecutively diagnosed with retinoblastoma at the Portuguese National Referral Center of Intraocular Tumors, between October 2015 and October 2020ResultsTwenty-eight children were diagnosed with retinoblastoma at our center, 15 hereditary from which 12 presented with bilateral retinoblastoma and 3 were unilateral. The overall mean age at diagnosis was 13.6 ± 11.1 months with hereditary retinoblastomas diagnosed slightly earlier at 9.6 ± 6.3 months. A familial history of retinoblastoma was found in only 4 (14.3%) of the cases. A pathogenic mutation in the RB1 gene was found in 13 (46.4%) of the children. The most frequent sign at referral was leukocoria in 71.4% of patients. Considering the ICRB classification of the tumors, 84.6% of non-hereditable hereditary retinoblastomas were referred to our center in advanced stages. In the group of hereditable retinoblastomas 86.7% presented with one of the eyes with advanced intraocular retinoblastoma. Fourteen children had one eye enucleated due to retinoblastoma. No deaths were registered during the study period. Considering the incidence analysis, we registered a year-of-birth controlled incidence analysis of 4.04 per 100.000 living births (IC 95% 1.59 – 6.49).Conclusion This is the first characterization of the Portuguese Population diagnosed with Retinoblastoma in the National Reference Center.

The regional decline and rise of tick-borne encephalitis incidence do not correlate with Lyme borreliosis, Austria, 2005 to 2018

Background Tick-borne encephalitis (TBE) virus is a human pathogen that is expanding its endemic zones in Europe, emerging in previously unaffected regions. In Austria, increasing incidence in alpine regions in the west has been countered by a decline in traditional endemic areas to the east of the country. Aim To shed light on the cause of this disparity, we compared the temporal changes of human TBE incidences in all federal provinces of Austria with those of Lyme borreliosis (LB), which has the same tick vector and rodent reservoir. Methods This comparative analysis was based on the surveillance of hospitalised TBE cases by the National Reference Center for TBE and on the analysis of hospitalised LB cases from hospital discharge records across all of Austria from 2005 to 2018. Results The incidences of the two diseases and their annual fluctuations were not geographically concordant. Neither the decline in TBE in the eastern lowlands nor the increase in western alpine regions is paralleled by similar changes in the incidence of LB. Conclusion The discrepancy between changes in incidence of TBE and LB support the contributions of virus-specific factors beyond the mere availability of tick vectors and/or human outdoor activity, which are a prerequisite for the transmission of both diseases. A better understanding of parameters controlling human pathogenicity and the maintenance of TBE virus in its natural vector−host cycle will generate further insights into the focal nature of TBE and can potentially improve forecasts of TBE risk on smaller regional scales.

Frailty in Wild-Type Transthyretin Cardiac Amyloidosis: The Tip of the Iceberg

ATTRwt-CA occurs in elderly patients and leads to severe heart failure. The disease mechanism involves cardiac and extracardiac infiltration by amyloid fibrils. The objectives of this study are to describe the frailty phenotype in patients with ATTRwt-CA and to assess the associations between frailty parameters, the severity of cardiac involvement, and the course of amyloid disease. We used multidimensional geriatric tools to prospectively assess frailty in patients with ATTRwt-CA consulting (in 2018–2019) in the French National Reference Center for Cardiac Amyloidosis. We included 36 patients (35 males; median age: 82 years (76–86). A third of the patients were categorized as NYHA class III or IV, and 39% had an LVEF below 45%. The median serum NTproBNP was 3188 (1341–8883) pg/mL. The median duration of amyloidosis was 146 months (73–216). The frequency of frailty was 50% and 33% according to the physical frailty phenotype and the Short Emergency Geriatric Assessment questionnaire, respectively. Frailty affected a large number of domains, namely autonomy (69%), balance (58%), muscle weakness (74%), malnutrition (39%), dysexecutive syndrome (72%), and depression (49%). The severity of CA was significantly associated with many frailty parameters independently of age. Balance disorders and poor mobility were also significantly associated with a longer course of amyloid disease. Frailty is frequent in patients with ATTRwt-CA. Some frailty parameters were significantly associated with a longer course of amyloid disease and CA severity. Taking into account frailty in the assessment and management of ATTRwt should improve patients’ quality of life.

AA Amyloidosis in the Course of HIV Infection: A Report of 19 Cases Including 4 New French Cases and a Comprehensive Review of Literature

<b><i>Introduction:</i></b> HIV infection has been recently retained as an unclear cause of AA amyloidosis. Our aim was to investigate cases of AA amyloidosis associated with HIV infection to understand if it could be considered as a cause of AA amyloidosis. <b><i>Methods:</i></b> A comprehensive literature review was conducted as well as retrospective study from French cases collected from our national reference center for AA amyloidosis. <b><i>Results:</i></b> Altogether, 19 patients with AA amyloidosis and HIV infection were found with 68% of men and median age at amyloidosis diagnosis of 38 years (range 28–75 years). Clinical presentation was nephrotic syndrome in 94% (<i>n</i> = 17/18). Among patients with renal involvement and assessable outcome (<i>n</i> = 17), 11 (64.7%) progressed to chronic kidney disease, with 6 (35%) end-stage renal disease. Seventy-five percent of patients had uncontrolled HIV infection and 71.4% CD4 counts &#x3c;400/mm³ at amyloidosis diagnosis. Repeated or chronic bacterial or fungal infection was found in 47% of cases and a history of parenteral drug use in 55% of patients. Three patients had no classical or at least no suspected AA amyloidosis cause found or reported. <b><i>Conclusions:</i></b> AA Amyloidosis is a rare condition in HIV patients with common renal involvement and significant risk of progression to chronic renal insufficiency. Because of the frequency related to other inflammatory conditions in this population, HIV is probably not an independent risk factor for AA amyloidosis.

Incidence and predictors of COVID-19 and flares in patients with rare autoimmune diseases: a systematic survey and serological study at a national reference center in France

Background The risk of severe COVID-19 and its determinants remain largely unknown in patients with autoimmune and inflammatory rheumatic diseases. The objective of this study was to assess the prevalence of COVID-19 infection in patients followed for rare autoimmune diseases as well as the predictors of COVID-19 and disease flare-ups. Methods Cross-sectional phone survey from April 9, 2020, to July 2, 2020, during which patients with autoimmune diseases followed at the National Reference Center for Rare Autoimmune diseases of Strasbourg were systematically contacted by phone and sent a prescription for a SARS-CoV-2 serology. Results One thousand two hundred thirty-two patients were contacted. One thousand fifty-five patients with a confirmed diagnosis of systemic autoimmune disease were included (4 unreachable, 4 moves abroad, 5 deaths before pandemic, 50 without consent, and 114 without autoimmune disease). Among them, 469 (44.5%) patients were tested for SARS-CoV-2 serology. Thirty-nine patients (7.9%) had SARS-CoV-2 infection (either through chest CT-scan [n = 5], RT-PCR on nasopharyngeal swab [n = 14], or serology [n = 31]) among the 496 who underwent at least one of those 3 diagnosis modalities. Of the 39 proven cases, 33 had clinical manifestations (6 asymptomatic patients were diagnosed through systematic serology testing), 31 were managed by home care, 3 were hospitalized due to a need for oxygenation, two required admission to an intensive care unit, and one died. Among patients with confirmed SARS-CoV-2 infection, reported flares were more frequent than in uninfected patients (26.3% [10/38] vs. 7.0% [32/457], p < 0.0001). Preventive sick leave had no significant impact on the prevalence of SARS-CoV-2 infection (5.8% [3/53]) compared to work continuation (7.6% [30/397], p = 0.64). Overall, the seroprevalence of SARS-CoV-2 was 6.6% (31/469) which was numerically lower to the Grand-Est general population estimated to be 9.0%. Conclusions This systematic survey of more than 1000 patients with rare systemic autoimmune diseases reports a low prevalence of proven SARS-CoV-2 infection and very rare severe infections, probably related to good compliance with prophylactic measures in these patients.

Feedborne Salmonella enterica Serovar Jerusalem Outbreak in Different Organic Poultry Flocks in Switzerland and Italy Linked to Soya Expeller

Poultry feed is a leading source of Salmonella infection in poultry. In Switzerland, heat-treated feed is used to reduce Salmonella incursions into flocks in conventional poultry production. By contrast, organic feed is only treated with organic acids. In 2019, the Swiss National Reference Center for Enteropathogenic Bacteria identified the rare serovar S. Jerusalem from samples of organic soya feed. Further, in July 2020, the European Union’s Rapid Alert System for Food and Feed published a notification of the detection of S. Jerusalem in soya expeller from Italy. During 2020, seven S. Jerusalem isolates from seven different poultry productions distributed over six cantons in Switzerland were reported, providing further evidence of a possible outbreak. Using whole-genome sequencing (WGS), S. Jerusalem isolates from feed and from animals in Switzerland were further characterized and compared to S. Jerusalem from organic poultry farm environments in Italy. WGS results showed that feed isolates and isolates from Swiss and Italian poultry flocks belonged to the sequence type (ST)1028, grouped in a very tight cluster, and were closely related. This outbreak highlights the risk of spreading Salmonella by feed and emphasizes the need for a heat-treatment process for feed, also in organic poultry production.

Azoles susceptibility profiles of more than 9,000 clinical yeast isolates belonging to 40 common and rare species

Invasive yeast infections represent a major global public health issue and only few antifungal agents are available. Azoles are one of the classes of antifungals used for treatment of invasive candidiasis. The determination of antifungal susceptibility profiles using standardized methods is important to identify resistant isolates and to uncover the potential emergence of intrinsically-resistant species. We here report data on 9,319 clinical isolates belonging to 40 pathogenic yeast species recovered in France over 17 years. The antifungal susceptibility profiles were all determined at the National Reference Center for Invasive Mycoses and Antifungals based on the EUCAST broth microdilution method. The centralized collection and analysis allowed us to describe the trends of azoles susceptibility of isolates belonging to common species, confirming the high susceptibility for C. albicans (n=3,295), C. tropicalis (n=641), C. parapsilosis (n=820), and decreased susceptibility for C. glabrata (n=1,274), and P. kudriavzevii (n=343). They also provide interesting data concerning azole susceptibility of Cr. neoformans species complex: showing comparable MICs distribution for the three species but lower MIC50 and MIC90 for serotype D (n=208) compared to serotype A (n=949) and AD hybrids (n=177). Finally, these data provide useful information for rare and/or emerging species such as C. lusitaniae (n=221), S. clavata (n=184), M. guilliermondii complex (n=150), C. haemulonii complex (n=87), R. mucilaginosa (n=55), W. anomalus (n=36).