Data accuracy, consistency and completeness of the national Swiss cystic fibrosis patient registry: Lessons from an ECFSPR data quality project.

BACKGROUND: Good data quality is essential when rare disease registries are used as a data source for pharmacovigilance studies. This study investigated data quality of the Swiss cystic fibrosis (CF) registry in the frame of a European Cystic Fibrosis Society Patient Registry (ECFSPR) project aiming to implement measures to increase data reliability for registry-based research. METHODS: All 20 pediatric and adult Swiss CF centers participated in a data quality audit between 2018 and 2020, and in a re-audit in 2022. Accuracy, consistency and completeness of variables and definitions were evaluated, and missing source data and informed consents (ICs) were assessed. RESULTS: The first audit included 601 out of 997 Swiss people with CF (60.3 %). Data quality, as defined by data correctness ≥95 %, was high for most of the variables. Inconsistencies of specific variables were observed because of an incorrect application of the variable definition. The proportion of missing data was low with <5 % for almost all variables. A considerable number of missing source data occurred for CFTR variants. Availability of ICs varied largely between centers (10 centers had >5 % of missing documents). After providing feedback to the centers, availability of genetic source data and ICs improved. CONCLUSIONS: Data audits demonstrated an overall good data quality in the Swiss CF registry. Specific measures such as support of the participating sites, training of data managers and centralized data collection should be implemented in rare disease registries to optimize data quality and provide robust data for registry-based scientific research.

Nutritional assessment in adults with cystic fibrosis.

OBJECTIVES: Clinical experience with patients with cystic fibrosis (CF) suggests a nutritional risk in this population. In addition to the lung pathology, a main pathophysiologic concern is the viscous mucus blocking pancreatic ducts, leading to reduced production of pancreatic enzymes. Therefore, maldigestion and consequently malabsorption (particularly fat and fat-soluble vitamins) occur, resulting in steatorrhea, vitamin deficiencies, and subsequently manifest malnutrition. The aim of this study was to investigate the nutritional status and determine the prevalence of malnutrition in an adult Swiss CF cohort. METHODS: This was an observational cohort study in which the nutritional status and dietary habits of patients with CF and healthy controls were compared. Assessment was based on the nutritional risk screening (NRS-2002), dietary habits (7-d dietary record), body composition (bioelectrical impedance analysis), anthropometrics, resting energy expenditure (REE; indirect calorimetry), and physical or mental function (hand-grip strength, Short Form-36 v2). RESULTS: Nineteen patients (15 men, mean age 32 y) and 15 controls (8 men, mean age 49 y) were included. Eight patients (42%) were at nutritional risk (NRS-2002 ≥3). Patients had higher energy intake/body weight (P = 0.021) with lower body fat percentage (P < .001), body mass index (P = 0.030), and physical/mental health scores (P < 0.001) than controls. Energy intake was higher than REE in patients (P = 0.003), but not in controls (P = 0.373). CONCLUSIONS: Prevalence of malnutrition was high in this CF cohort, coinciding with low body fat percentage and low body mass index despite high energy and protein intake. Energy requirements of patients with CF should be estimated as approximately twice the Harris-Benedict REE and 1.7 times indirect calorimetry REE, while ensuring adequate intake of pancreatic enzymes.

Cushing's syndrome caused by an ACTH-producing large cell neuroendocrine carcinoma of the gallbladder.

Malignancies of the gallbladder, including neuroendocrine tumors, are uncommon, mostly found incidentally after cholecystectomy and are frequently asymptomatic in the early stages, but highly fatal. Limited data is available on adrenocorticotropic hormone (ACTH)-producing neuroendocrine tumors specifically originating from the gallbladder. We report the clinical and radiographic findings, which included positron emission tomography and computed tomography, of a patient with a gallbladder mass who presented with Cushing's syndrome. Subsequently, a diagnosis of ACTH-producing large cell neuroendocrine carcinoma of the gallbladder was made. Despite being rare and having a poor prognosis, hormone-producing neuroendocrine tumors should be part of the differential diagnosis in the approach of patients with Cushing's syndrome.

Lemierre's syndrome mimicking leptospirosis.

Lemierre's syndrome is a suppurative thrombophlebitis involving the internal jugular vein, most commonly associated with Fusobacterium necrophorum, usually a complication of oropharyngeal infections. This syndrome is rare and is often overlooked. We present a case of sepsis mimicking initially severe leptospirosis (Weil's disease) due to acute febrile illness with multiorgan failure and hyperbilirubinemia. Finally, blood cultures revealed Fusobacterium necrophorum and computed tomography (CT) demonstrated bilateral pulmonary nodules and a thrombus in the right internal jugular vein. Early clinical suspicion is crucial so that appropriate diagnostic investigation and antibiotic therapy can be initiated to minimize the risk of life-threatening complications.