Familial risks in and between stone diseases : sialolithiasis, urolithiasis and cholelithiasis in the population of Sweden

Background: According to the literature the three stone diseases, sialolithiasis (SL), urolithiasis (UL) and cholelithiasis (CL) share comorbidities. We assess familial and spouse risks between these stone disease and compare them to familial risks for concordant (same) stone disease. Methods: Study population including familiar relationships was obtained from the Swedish Multigeneration Register and stone disease patients were identified from nation-wide medical records. Standardized incidence ratios (SIRs) were calculated for 0-83 year old offspring when their first-degree relatives were diagnosed with stone disease and the rates were compared to individuals without a family history of stone disease. Numbers of offspring with SL were 7906, for UL they were 170,757 and for CL they were 204,369. Results: SIRs for concordant familial risks were 2.06 for SL, 1.94 for UL and 1.82 for CL. SIRs for SL and UL were slightly higher for women than for men. Familial risks between stone diseases were modest. The highest risk of 1.17 was for UL when family members were diagnosed with CL, or vice versa. The SIR for UL was 1.15 when family members were diagnosed with SL. Familial risks among spouses were increased only for UL-CL pairs (1.10). Conclusions: Familial risks for concordant SL were 2.06 and marginally lower for the other diseases. Familial risks between stone diseases were low but higher than risks between spouses. The data show that familial clustering is unique to each individual stone disease which would imply distinct disease mechanisms. The results cast doubt on the reported comorbidities between these diseases.Peer reviewe

Familial risks in and between stone diseases : sialolithiasis, urolithiasis and cholelithiasis in the population of Sweden

Abstract Background According to the literature the three stone diseases, sialolithiasis (SL), urolithiasis (UL) and cholelithiasis (CL) share comorbidities. We assess familial and spouse risks between these stone disease and compare them to familial risks for concordant (same) stone disease. Methods Study population including familiar relationships was obtained from the Swedish Multigeneration Register and stone disease patients were identified from nation-wide medical records. Standardized incidence ratios (SIRs) were calculated for 0–83 year old offspring when their first-degree relatives were diagnosed with stone disease and the rates were compared to individuals without a family history of stone disease. Numbers of offspring with SL were 7906, for UL they were 170,757 and for CL they were 204,369. Results SIRs for concordant familial risks were 2.06 for SL, 1.94 for UL and 1.82 for CL. SIRs for SL and UL were slightly higher for women than for men. Familial risks between stone diseases were modest. The highest risk of 1.17 was for UL when family members were diagnosed with CL, or vice versa. The SIR for UL was 1.15 when family members were diagnosed with SL. Familial risks among spouses were increased only for UL-CL pairs (1.10). Conclusions Familial risks for concordant SL were 2.06 and marginally lower for the other diseases. Familial risks between stone diseases were low but higher than risks between spouses. The data show that familial clustering is unique to each individual stone disease which would imply distinct disease mechanisms. The results cast doubt on the reported comorbidities between these diseases

Complications in lymph node excision in the head and neck area

Background Although needle biopsy is widely used in work-up of lymphadenopathy, lymph node excision (LNE) is often required especially in lymphoma diagnostics. LNE is an invasive procedure, which carries a potential risk of complications. However, comprehensive studies evaluating the spectrum and occurrence of complications are lacking. Aims/Objectives This study addresses the role of preoperative needle biopsies in patients who underwent LNE. Furthermore, surgical complications related to LNE are analyzed. Materials and methods Altogether 321 patients, who underwent LNE in two-year period in 2018-19, and fulfilled our study criteria, were included. Patients' data were retrieved from the electronic patient records. Results The surgical complication rate was 5.9%. Most of the complications (n = 16; 84.2%) were categorized as minor (I-II) according to the Clavien-Dindo scale. The remaining three (15.8%), all hemorrhages, were categorized as major complications and required intervention. Preoperative needle biopsy might have avoided the need for LNE in some patients, which we discuss in this study. Conclusions and significance Surgical complications after LNE in the head and neck area are rare and mostly minor. Needle biopsy is often recommended preoperatively to avoid unnecessary operations and to refrain performing LNE for patients with non-lymphatic malignancy.Peer reviewe

Comparison of intubation and tracheotomy in adult patients with acute epiglottitis or supraglottitis

Purpose In acute epiglottitis (AE) or acute supraglottitis (AS), the management of the airway is crucial. We hypothesized that tracheotomized patients recover faster than intubated patients do. Methods We retrospectively reviewed all adult AE and AS patients, who underwent intubation or tracheotomy between 2007 and 2018 in a tertiary care center. Patient demographics, treatment, and complications were analyzed. Results The cohort comprised 42 patients. The airway was secured with intubation in 50% and with tracheotomy in 50%. All intubated patients (n = 21) and three tracheotomized patients were treated in the intensive care unit (p <0.0001). Procedure-related complications were encountered in three intubated and eight tracheotomized patients (p = 0.892). Median overall treatment cost was 11.547 euro and 5.856 euro in the intubated and tracheotomized patient groups, respectively (p <0.001). The median duration of sick leave after discharge from hospital was 13 days in the tracheotomy group and 7 days in the intubation group (p = 0.097). Conclusion Tracheotomy resulted in a less expensive management in securing the airway in AE or AS, but tracheotomized patients had a trend towards more complications and longer sick leaves compared to intubated patients.Peer reviewe

Longitudinal Metabolome-Wide Signals Prior to the Appearance of a First Islet Autoantibody in Children Participating in the TEDDY Study

Children at increased genetic risk for type 1 diabetes (T1D) after environmental exposures may develop pancreatic islet autoantibodies (IA) at a very young age. Metabolic profile changes over time may imply responses to exposures and signal development of the first IA. Our present research in The Environmental Determinants of Diabetes in the Young (TEDDY) study aimed to identify metabolome-wide signals preceding the first IA against GAD (GADA-first) or against insulin (IAA-first). We profiled metabolomes by mass spectrometry from children's plasma at 3-month intervals after birth until appearance of the first IA. A trajectory analysis discovered each first IA preceded by reduced amino acid proline and branched-chain amino acids (BCAAs), respectively. With independent time point analysis following birth, we discovered dehydroascorbic acid (DHAA) contributing to the risk of each first IA, and γ-aminobutyric acid (GABAs) associated with the first autoantibody against insulin (IAA-first). Methionine and alanine, compounds produced in BCAA metabolism and fatty acids, also preceded IA at different time points. Unsaturated triglycerides and phosphatidylethanolamines decreased in abundance before appearance of either autoantibody. Our findings suggest that IAA-first and GADA-first are heralded by different patterns of DHAA, GABA, multiple amino acids, and fatty acids, which may be important to primary prevention of T1D