National Reference Research Articles

Beyond the baseline: Quantification of two Phosphatidylethanol (PEth) homologues in Whole Blood by LC-MS/MS and Retrospective Data Analysis from a National Reference Laboratory.

Quantification of phosphatidylethanol in whole blood was accomplished using an LC-MS/MS assay. Isotopically labeled internal standard for the two PEth homologues was added to the whole blood specimen, followed by protein precipitation with a mixture of acetonitrile and isopropyl alcohol. After centrifugation, an aliquot of the supernatant was buffered with ammonium acetate before LC-MS/MS analysis on an Agilent 6470 triple quadrupole mass spectrometer coupled to an Agilent 1260 Infinity II LC system. This LC-MS/MS assay was validated for clinical use in accordance with CLSI guidelines. The analytical measurement range, 10 - 2000 ng/mL, was linear with R2 of 0.999. The within-run and total imprecision was < 5% CV for the low (20 ng/mL), medium (200 ng/mL), and high QC (1000 ng/mL). Results from accuracy and method comparison experiments met the bias criteria of ±15%. Retrospective data analysis showed ~27% of patients had PEth concentrations greater than 20 ng/mL. Males and females had similar positivity rates for PEth and the positivity rate of women of reproductive age (15-44 years old) was 35% in comparison to 25% in women 45-89 years old. This study's LC-MS/MS method showed acceptable analytical performance in quantifying PEth as a sensitive and specific biomarker for evaluating alcohol consumption. Results from this study may provide an opportunity to educate women of reproductive age on drinking during pregnancy and the long-term effects of alcohol use.

Iron Deficiency Anaemia in a Stable Chronic Intestinal Failure Cohort: Prevalence, Associations and Outcomes.

Current estimates of the prevalence of iron deficiency anaemia (IDA) in patients with chronic intestinal failure (CIF) exceed those seen in general population, however, the studies to-date are limited with relatively small numbers of patients. The aim of the study was to determine the point prevalence of IDA in a large cohort of stable HPN-dependent adults managed by a specialist Intestinal Failure Unit. This was a retrospective cohort study of HPN-dependent adults managed by a national UK IF Reference Centre between 01/01/2019 and 31/12/2019. Patients with IDA were followed up until death or the end of the follow-up on 01/05/2024. 241 patients were included in the analysis. 27/241 (11.2%) were diagnosed with IDA. Previous hypoferritinaemia, previous IDA and not receiving the recommended amount of iron via parenteral nutrition as per ESPEN guidelines were associated with higher likelihood of IDA diagnosis. Only 2/27 patients with IDA at inclusion fulfilled IDA criteria by the end of the follow up. Long-term outcomes in the patient cohort with IDA were good with no patients displaying evidence of malignancy until the end of the study period. Our study shows that while IDA is common in patients with CIF, its clinical implications may differ from those in the general non-IF population. Further larger collaborative multi-centre research is necessary to confirm these findings with a view to develop evidence-based guidelines for the investigation of IDA in CIF.

Outbreak of Pseudomonas aeruginosa perichondritis associated with ear piercings and a contaminated water system.

In September 2023, the UK Health Security Agency's (UKHSA) South West Health Protection Team received notification of patients with Pseudomonas aeruginosa perichondritis. All five cases had attended the same cosmetic piercing studio and a multi-disciplinary outbreak control investigation was subsequently initiated. An additional five cases attending the same studio were found. Seven of the ten cases had isolates available for Variable Number Tandem Repeat (VNTR) typing at the UKHSA national reference laboratory. Clinical and environmental P. aeruginosa isolates from the patients, handwash sink, tap water and throughout the wall-mounted point-of-use water heater (including outlet water) were indistinguishable by VNTR typing (11,6,2,2,1,3,6,3,11). No additional cases were identified after control measures were implemented, which included replacing the sink and point-of-use heater.The lack of specific recommendations to control for P. aeruginosa within Council-adopted ear-piercing byelaws or national guidance means that a cosmetic piercing artist could inadvertently overlook the risks from this bacterial pathogen despite every intention to comply with the law and follow industry best practice advice. Clinicians, Environmental Health Officers and public health professionals should remain alert for single cases of Pseudomonas perichondritis infections associated with piercings and have a low threshold for notification to local health protection teams.

Congenital Chagas disease: A cohort study to assess molecular diagnostic methods at the Chagas disease national reference center of Argentina.

Trypanosoma cruzi is a protozoan parasite which causes Chagas disease. Mother-to-child transmission is the main route of transmission in vector-free areas. Congenital Chagas disease refers specifically to cases arising from this route of transmission. This work evaluates the clinical sensitivity of two qPCR techniques for diagnosis of congenital Chagas disease. The study was developed in the National Institute of parasitology (NIP), Argentina, and Pan-American Health Organization/ Word Health Organization Collaborating Center for Chagas Disease. Between July 2014 and May 2018, a prospective cohort study was carried out with 499 children born to seropositive for T. cruzi infection included. The performance of qPCR techniques was compared with the gold standard diagnostic algorithm for Congenital Chagas disease (CCD-GS), which comprises performing more than one parasitological test on children from birth until nine months of age, and serology from ten months of age. Of the 961 babies born to women seropositive for Chagas disease who were attended at the NIP laboratory, 462 did not meet the study inclusion criteria; 22 cases were diagnosed with congenital Chagas disease. qPCR showed 100% clinical sensitivity and 98 to 100% clinical specificity for the diagnosis of congenital Chagas disease compared with CCD-GS algorithm. The results obtained in this study demonstrate the clinical accuracy and effectiveness of qPCR SatDNA and qPCR kDNA for diagnosis of congenital Chagas disease. It could be a powerful tool for chagas test and treat strategies to reduce late complications of the disease. This work was financed by the INP Dr. Mario Fatala Chaben, ANLIS Dr. Carlos G. Malbran.

Galaxy @Sciensano: a comprehensive bioinformatics portal for genomics-based microbial typing, characterization, and outbreak detection

The influx of whole genome sequencing (WGS) data in the public health and clinical diagnostic sectors has created a need for data analysis methods and bioinformatics expertise, which can be a bottleneck for many laboratories. At Sciensano, the Belgian national public health institute, an intuitive and user-friendly bioinformatics tool portal was implemented using Galaxy, an open-source platform for data analysis and workflow creation. The Galaxy @Sciensano instance is available to both internal and external scientists and offers a wide range of tools provided by the community, complemented by over 50 custom tools and pipelines developed in-house. The tool selection is currently focused primarily on the analysis of WGS data generated using Illumina sequencing for microbial pathogen typing, characterization and outbreak detection, but it also addresses specific use cases for other data types. Our Galaxy instance includes several custom-developed 'push-button' pipelines, which are user-friendly and intuitive stand-alone tools that perform complete characterization of bacterial isolates based on WGS data and generate interactive HTML output reports with key findings. These pipelines include quality control, de novo assembly, sequence typing, antimicrobial resistance prediction and several relevant species-specific assays. They are tailored for pathogens with active genomic surveillance programs, and clinical relevance, such as Escherichia coli, Listeria monocytogenes, Salmonella spp. and Mycobacterium tuberculosis. These tools and pipelines utilize internationally recognized databases such as PubMLST, EnteroBase, and the NCBI National Database of Antibiotic Resistant Organisms, which are automatically synchronized on a regular basis to ensure up-to-date results. Many of these pipelines are part of the routine activities of Belgian national reference centers and laboratories, some of which use them under ISO accreditation. This resource is publicly available for noncommercial use at https://galaxy.sciensano.be/ and can help other laboratories establish reliable, traceable and reproducible bioinformatics analyses for pathogens encountered in public health settings.

Frequency of Uropathogenic Bacteria among Patients Visited to the National Reference University Hospital Center of N'Djamena (CHAD)

Frequency of Uropathogenic Bacteria among Patients Visited to the National Reference University Hospital Center of N'Djamena (CHAD)

Prevalence of Borrelia burgdorferi sensu lato infection in the Czech Republic.

Lyme borreliosis (LB), an infection caused by Borrelia burgdorferi sensu lato (Bbsl), is the most common tick-borne disease in Europe. To further characterize the LB burden in the Czech Republic, we conducted a seroprevalence study and estimated the incidence of symptomatic Bbsl infections. Anti-Bbsl IgM and IgG antibodies were detected in sera collected from the adult population in 2011 -2012 by enzyme-linked immunosorbent assay and immunoblot tests at the National Reference Laboratory. The incidence of symptomatic Bbsl infections was estimated from the seroprevalence results and the symptomatic proportion and duration of persistence of anti-Bbsl IgG antibodies in Bbsl-infected individuals. Surveillance under-detection of symptomatic Bbsl infections was estimated by comparing surveillance-reported and seroprevalence-based incidence. Samples from 1996 adults were tested; the median age (range) was 45 (18 -87) years; 1037 (52.0 %) were female. The prevalence (with 95 % confidence interval) of anti-Bbsl IgG, and IgM and/or IgG (IgM/IgG) antibodies was 6.3 % (5.3 -7.5 %), and 9.5 % (8.3 -10.9 %), respectively. The IgM/IgG prevalence was 7.8 % (6.5 -9.2 %) in Bohemia and 15.3 % (12.2 -19.0 %) in Moravia. There were an estimated 30,563 (26,550 -34,962) symptomatic incident Bbsl infections in adults in the Czech Republic in 2012, for an incidence of 352.2 (306.0 -402.9) symptomatic Bbsl infections per 100,000 adults per year. There were an estimated 11 (10 -13) symptomatic Bbsl infections for each surveillance-reported LB case in the Czech Republic in 2012. There is high incidence of symptomatic Bbsl infections in the Czech Republic, particularly in Moravia. Interventions are needed to address the substantial burden of LB in the Czech Republic.

Piloting an external quality assurance program (QAP) for COVID-19 antigen rapid diagnostic tests (Ag-RDTs): findings and lessons learned from Cambodia

Rapid antigen diagnostic tests (Ag-RDTs) that quickly and accurately identify SARS-CoV-2 are an essential part of the COVID-19 response, but multiple factors can affect the validity of Ag-RDTs results. In...

Leveraging milk mid-infrared spectroscopy to authenticate animal welfare, farming practices, and dairy systems of Parmigiano Reggiano cheese.

Increasing consumer concerns underscore the importance of verifying the practices and origins of food, especially certified premium products. The aim of this study was to evaluate the ability of Fourier-transform mid-infrared (FT-MIR) spectroscopy to authenticate animal welfare parameters, farming practices, and dairy systems. Data on farm characteristics were obtained from the Parmigiano Reggiano Consortium in northern Italy. Animal welfare data were collected by trained veterinarians using the assessment protocol developed by the Italian National Reference Center for Animal Welfare (CREnBA), while bulk milk test-day data were obtained from the laboratory of the Breeders Association of the Emilia Romagna Region (ARAER). A merged final data set of 12,083 bulk FT-MIR spectra records from 949 farms was created. Using a non-hierarchical clustering approach, the farms were classified into 5 dairy systems: 2 'traditional' systems, comprising farms located in either the Apennines or the Po Plain, and 2 'modern' systems, those that used TMR and that did not; a further 'traditional' dairy system was identified comprising farms rearing local breeds. To evaluate the ability of bulk milk to capture differences in farming systems, we conducted an ANOVA on milk composition. The linear models included the following effects: season, dairy system, farm, and the interaction between dairy system and season. The effect of the dairy system was significant for all milk composition traits. A 10-iteration linear discriminant analysis (LDA) was used to evaluate the discriminative ability of the spectra in classifying farming practices and dairy systems. The average results of the area under the receiver operating characteristic curve (ROC-AUC) revealed good authentication performance for genetic type (0.98), housing system (0.91), and feeding system (0.89), medium-low authentication performance for geographical area (0.70), while poor results were obtained for the percentage of concentrate in the diet and animal welfare parameters (0.57 - 0.64). With regard to dairy systems, the best result was obtained when dairy systems were grouped into 2 simplified categories, 'traditional' vs 'modern' (0.89), instead of the 5 categories (0.87). The results of this study show that FT-MIR is a useful tool for authenticating farming practices and dairy systems, but not animal welfare as defined by CREnBA evaluation criteria. Our results show that infrared spectroscopy has the potential to authenticate dairy products and quality label certifications.

Assessing the Nutrient Composition of a Carnivore Diet: A Case Study Model.

The rise in chronic metabolic diseases has led to the exploration of alternative diets. The carnivore diet, consisting exclusively of animal products, has gained attention, anecdotally, for imparting benefit for inflammatory conditions beyond that possible by other restrictive dietary approaches. The aim was to assess the micronutrient adequacy of four versions of the carnivore diet against national nutrient reference values (NRVs). This study assessed the nutrient adequacy of the carnivore diet against national NRVs from the Australian National Health and Medical Research Council (NHMRC) and New Zealand Ministry of Health. Four meal plans for hypothetical average Australian adults were developed and analysed using Foodworks.online (Version 1, Xyris Pty Ltd., Brisbane, Australia, 2024), dietary software. Two female and two male plans were included; one set including dairy products and the other set including offal. The carnivore diet met several NRV thresholds for nutrients such as riboflavin, niacin, phosphorus, zinc, Vitamin B6, Vitamin B12, selenium, and Vitamin A, and exceeded the sodium threshold. However, it fell short in thiamin, magnesium, calcium, and Vitamin C, and in iron, folate, iodine and potassium in some cases. Fibre intake was significantly below recommended levels. The carnivore diet may offer benefits for managing certain chronic conditions. Whether the metabolic contexts from consuming such a diet facilitates a lower requirement of certain nutrients, or whether it poses risks of micronutrient inadequacies remains to be determined. Tailored nutritional guidance and supplementation strategies are recommended to ensure careful consideration of micronutrient intake to prevent deficiencies.

Manifestations of COVID-19 in Black African Pregnant Women

Introduction: Previous coronavirus outbreaks have shown increased risks of maternal complications. The main objective was therefore to describe the epidemiological, clinical, therapeutic and prognostic aspects of COVID-19 in black African pregnant women. Materials and Method: Retrospective descriptive study over a period of 16 months at the Regional Hospital of Lomé Commune, national reference center for the management of COVID-19 in Togo. Results: Twenty-one pregnant women, one of whom was excluded from the study were hospitalized out of 1338 hospitalized patients. The mean age was 27.9 years [17 - 40 years]. Pregnancy was diagnosed during hospitalization in 3 pregnant women. Nine pregnant women were in the first trimester of pregnancy and 4 in the third trimester. The clinical classification of COVID-19 showed 7 severe forms and one critical form. Complications were pulmonary embolism, respiratory distress with desaturation, acute pulmonary edema and metrorrhagia. The evolution of the other pregnancies was marked by threats of premature delivery and one fetal death. Nine pregnancies progressed normally and 4 women delivered by cesarean section. Two pregnant women with severe and critical conditions respectively died. Conclusion: The manifestations of COVID-19 in black African pregnant women are not different from other races.

In-vitro activity of the novel β-lactam/β-lactamase inhibitor combinations and cefiderocol against carbapenem-resistant Pseudomonas spp. clinical isolates collected in Switzerland in 2022.

To evaluate the in-vitro activity of the novel commercially-available drugs, including meropenem-vaborbactam (MEV), ceftazidime-avibactam (CZA), ceftolozane-tazobactam (C/T), imipenem-relebactam (IPR) as well as cefiderocol (FDC), against carbapenem-resistant Pseudomonas spp. (CRP) isolates. All CRP isolates collected at the Swiss National Reference Laboratory (NARA) over the year 2022 (n = 170) have been included. Most of these isolates (n = 121) were non-carbapenemase producers. Among the 49 carbapenemase producers, 47 isolates produced metallo-β-lactamases (MBL) including NDM-1 (n = 11), VIM-like (n = 28), IMP-like (n = 7), and both NDM-1 and VIM-2 (n = 1) and two isolates produced the class A carbapenemase GES-5. Susceptibility testing was determined by broth microdilution method (BMD), or disk diffusion test, and results interpreted following EUCAST guidelines. The susceptibility rates for MEV, CZA, C/T and IPR were found to be 41%, 45%, 59% and 58%, respectively, for the whole set of isolates tested. Among non-carbapenemase producers, susceptibility rates for these β-lactam/β-lactamase inhibitors (BL/BLI) combinations were higher, determined at 55%, 61%, 83%, and 82%, respectively. The overall susceptibility of carbapenemase-producing Pseudomonas spp. to novel BL/BLI was relatively low, while 80% of these isolates demonstrated susceptibility to FDC, with a similar proportion (79%) observed among MBL producers. A total of 10 MBL-producing isolates (6%), mainly NDM-1, were found to exhibit resistance to all drugs tested, with the exception of colistin. FDC exhibited an excellent in-vitro activity against this collection of CRP recovered from Switzerland in 2022, including MBL producers. The new BL/BLI combinations displayed significant activity against non-carbapenemase CRP, with IPR and C/T showing the highest susceptibility rates.

Evaluation of a new protocol for rapid identification of Streptococcus pneumoniae in blood cultures using the modified bile solubility test: Gram staining is still standing.

This study aimed to evaluate a new protocol of the bile solubility test performed directly on the blood from positive blood culture bottles to identify Streptococcus pneumoniae rapidly. Seventy-five positive blood cultures (PBC) showing Gram-positive cocci in pairs or chains on Gram stain, including 32 S. pneumoniae isolates and three reference American Type Culture Collection (ATCC) isolates were included to evaluate the performance of a modified bile solubility test (MBST). One milliliter of blood from the PBC bottle was mixed with 0.5 mL of 10% desoxycholate or a saline solution. Both suspensions were analyzed after 10 min of incubation through a Gram stain to detect solubilization. This technique was compared with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry identification, performed on PBC following extraction or on colonies after short or standard incubation, and the optochin susceptibility test on colonies. The capsular serotypes were determined for all S. pneumoniae, and the Belgian National Reference Center confirmed the identification. All 32 clinical isolates and the ATCC isolate of S. pneumoniae were solubilized on the desoxycholate-treated slides, while the other species tested remained visually unchanged on both, the test and control slides. The MBST test demonstrated a 100% sensitivity and specificity with a mean turnaround time (TAT) of just 39 min, making it 14 h and 56 min faster than the optochin susceptibility test. This rapid variant of the bile solubility test appears to be a reliable method to identify S. pneumoniae directly from positive blood culture bottles, with a TAT of 39 min. It is a cost-effective, easy-to-perform, and time-efficient technique. Negative results should be interpreted cautiously, as they may result from mixed infections with S. pneumoniae and other Gram-positive cocci.

Establishing Diagnostic Reference Levels for Scintigraphy Examinations at the Mohammed VI University Hospital Centre in Marrakech-Morocco

Abstract This work aims to determine the diagnostic reference levels (DRL) for scintigraphy exams (SE) in the nuclear medicine (NM) department of the Oncology and Haematology Hospital, Mohammed VI University Hospital Centre of Marrakech region of Morocco (OHH, Med VI UHC-MM). These levels were based on the most recent recommendations from the ICRP in 2023. We compared the derived DRL with the published literature. The methodology applied consisted of using data recorded retrospectively in the files of patients who had undergone scintigraphy examinations in the nuclear medicine department during the period 2021–2023. Typical values (DRLs), based on the median of the distribution of administered activity (MBq) for bone (HMDP-99mTc), thyroid (99mTc), parathyroid (Sestamibi-99mTc and 99mTc), renal (DMSA-99mTc) scans, octreoscan (Tectrotyd-99mTc), pulmonary (Pulmosic-99mTc), cardiac (Sestamibi-99mTc) (stress and rest), and cerebral (HMPAO-99mTc) were 666 MBq, 144 MBq, (86 MBq, 666 MBq), 136 MBq, 555 MBq, 144 MBq, (333 MBq and 1073 MBq), and 703 MBq, of the different types of tests. In general, the results showed that the new DRLs were higher than the national diagnostic reference levels observed in French in 2021 and lower than those observed in South Korea in 2019, Croatia in 2020, and Switzerland in 2023.

10-Year Risk of Gallstones in Congenital Red Blood Cell Disorder Patients: A Nationwide Cohort Study.

Chronic hemolysis potentially elevates the risk of gallstones in several types of congenital red blood cell (RBC) disorders. However, the magnitude of the risk is unknown. We investigate the risk of gallstone disease in congenital RBC disorder patients, compared with general population comparators. Patients were identified from the Danish National Patient Registry covering all Danish hospitals and the National Reference Laboratory for RBC disorders during 1980-2016. Patients were matched by sex, age, and region of origin with up to 50 general population comparators. Gallstone events were identified using hospital-registered diagnoses and surgery codes. Our study included 9354 congenital RBC disorder patients, grouped according to type of congenital RBC disorder, and 416 994 general population comparators. The cumulative 10-year incidence of gallstone disease was 4.2% in patients with congenital RBC disorders and 1.7% among comparators. Adjusted csHR's [95% confidence interval] were 8.1 [6.8, 9.7] for hereditary spherocytosis; 3.3 [1.6, 6.8] for glucose-6-phosphate dehydrogenase deficiency; 21.6 [10.6, 44.1] for pyruvate kinase deficiency; 3.7 [1.9, 7.0] for sickle cell disease; 0.8 [0.4, 1.6] for sickle cell trait; 1.5 [1.1, 2.2] for α-thalassemia trait; 1.8 [1.4, 2.3] for β-thalassemia minor; and 2.1 [1.8, 2.6] for other congenital hemolysis. We found a markedly higher risk of hospital-registered gallstone diseases in nearly all groups of patients with congenital RBC disorders compared with the general population.

Characterization of Unusual Serogroups of Neisseria meningitidis.

Most cases of invasive meningococcal disease (IMD) in Europe are caused by isolates of the Neisseria meningitidis serogroups B, C, W, and Y. We aimed to explore cases caused by other unusual serogroups. We retrospectively screened IMD cases in the databases of the National Reference Center for Meningococci and Haemophilus influnezae in France between 2014 and 2023. Age, sex, serogroups, and genetic lineage distributions were analyzed. We also measured complement deposition on the bacterial surface and tested coverage by vaccines against serogroup B. Cases due to isolates of serogroups other than B, C, W, and Y represented 1.6% of all 3610 IMD cases during the study period with 59 cases and a median age of 21.5 years of age. The corresponding isolates were non-groupable (26 cases), serogroup X (21 cases), serogroup E (11 cases), and one isolate belonged to serogroup Z. Only a low proportion (7.4%) belonged to the hyperinvasive genetic lineages. Isolates of serogroup E bound a significantly higher amount of complement on their surface and were mainly detected in patients with terminal complement pathway deficiencies. Isolates of these unusual serogroups were shown to be covered by vaccines licensed against meningococci B. Surveillance of these isolates needs to be enhanced.

Health-related quality of life, social and psychological well-being of 109 adult patients with genetic lipodystrophy.

Lipodystrophy syndromes are rare diseases characterized by a generalized or partial lipoatrophic morphotype and metabolic complications. Data on health-related quality of life and impact of genetic lipodystrophy on social or psychological well-being are lacking. Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity. Patients completed a self-reported questionnaire exploring their physical, psychological and social well-being and perceived impact of the disease. Descriptive analyses and comparison with general population norms were conducted. Out of 175 eligible patients, 109 (84% of women) were included, either with familial partial (n=93) or congenital generalized (n=16) lipodystrophy. Health-related quality of life based on physical and mental scores was significantly decreased as compared to the French general population of similar age and gender (p<0.001 for both). Forty-one percent of patients reported moderate or severe depression and 69% dealt with chronic pain. Half of respondents had taken tranquilizers, sleeping pills or antidepressants over their life. Female participants with genetic lipodystrophy were more frequently unemployed due to health issues as compared to the general population. Social discrimination was highly prevalent (73%), coming, in 34% of cases, from health professionals. More than half of affected women reported a very negative impact of lipodystrophy on body image, significantly associated with depressive symptoms. This study highlights the need of psycho-social support in patients with lipodystrophy. An integrated approach and evaluation of psychological and physical symptoms by physicians should be made available to organize specialized care and set up specific therapeutic educational programs.

Micrognathia and cleft palate as a cause of obstructive sleep apnoea in infants.

Obstructive sleep apnoea (OSA) is common in Robin sequence (RS). We investigated the significance of micrognathia, cleft palate and sleep positioning on OSA in infants. We analysed our 13-year national reference centre polysomnography (PSG) dataset. PSG was performed as daytime recordings (97%) in the supine-, side- and prone sleeping position at the median age of 5 weeks (interquartile range 3-8 weeks). Our study included 113 infants with RS and cleft palate, 10 infants with RS but intact palate and 32 infants with cleft palate without micrognathia. The degree of OSA in infants with cleft palate without micrognathia was less severe than in infants with RS in terms of obstructive events (median OAHI 4 vs. 32 h-1, respectively), SpO2 desaturations (ODI≥3OAH 0.4 vs. 3 h-1), transcutaneous pCO2 levels (TcCO2P95, 41 vs. 46 mmHg) (p < 0.0001) and work of breathing (p = 0.01). In the RS group, OSA was sleep-position dependent, with fewer obstructive events apparent in the side (18 vs. 24 h-1, p = 0.005) and prone (39 vs. 27 h-1, p = 0.003) sleeping positions than when supine. The degree of OSA in RS infants is more dependent on micrognathia than on cleft palate.

Identifying Hip Arthroscopy Trends in Turkey.

Hip arthroscopy (HA) procedures have continued to increase worldwide. However, no data are currently available regarding the increasing HA case volume and trends in Turkey. To identify trends in postoperative care habits and incidence of HA in Turkey using data from the national Health Coding Reference Server (SKRS) database. Cross-sectional study. Patients who underwent HA and were recorded in the SKRS database between 2016 and 2023 were identified and retrospectively analyzed. Age, sex, institution type, geographic zone, and number of procedures were determined. The incidence of HA, overall annual case volume, chemoprophylaxis prescriptions, and postoperative care habits were also evaluated. The International Classification of Diseases, 10th Revision codes for femoral neck fracture after the index procedure and total hip arthroplasty conversion rate were analyzed. The authors utilized Poisson regression to determine the ratios of before and after periods in comparison with the same periods. Statistical analysis was performed using the statistical package SPSS software. In total, 1580 HA procedures were identified. The mean age of the included patients was 39.2 ± 11.0 years (range, 18-65 years). Throughout the research period, an 833% increase in the number of surgeries was observed, whereas the incidence increased from 0.37 to 2.86 per 100,000 cases (P = .001). A significant annual increase in incidence was noted from 2017, 2018 and 2021 compared with the respective prior year. Moreover, 56.1% of all HA cases were performed in the Marmara region, whereas 47.7% of the cases were treated in private hospitals. Femoral neck fractures were encountered in 2 (0.1%) cases throughout the study duration. Enoxaparin sodium was the most preferred chemoprophylactic drug (99.4%). The 2-year total hip arthroplasty conversion rate was 3.5%. This study describes the current trends in HA across Turkey and provides a perspective on physician preferences. Notably, HA procedure counts, the ratio between HA and other orthopaedic procedures, and the incidence of HA demonstrated an increasing trend, with enormous potential for further advancement. These findings highlight the need for the creation of a national registry capable of obtaining more specific and accurate data.

Frequency and characterization of medicinal Cushing's Syndrome in patients admitted to a national reference center from 2015 to 2023

Introducción: El Síndrome de Cushing medicamentoso representa la causa más frecuente de hipercortisolismo, constituyendo un problema de salud pública por sus múltiples complicaciones sistémicas y su impacto en la calidad de vida de los pacientes. El objetivo del estudio fue determinar las características clínico-epidemiológicas y complicaciones del Síndrome de Cushing medicamentoso en pacientes hospitalizados en el Hospital Nacional durante el período 2015-2023. Materiales y métodos: Estudio observacional, descriptivo, retrospectivo, de corte transversal. Se analizaron expedientes clínicos de pacientes adultos con diagnóstico de Síndrome de Cushing medicamentoso. Se evaluaron variables demográficas, clínicas, terapéuticas y complicaciones mediante estadística descriptiva. Resultados: Se incluyeron 101 pacientes (66,3% mujeres), edad media 58,55±12,5 años. El 95,1% recibió corticoides por prescripción médica, principalmente para manejo de enfermedades reumatológicas autoinmunes (52,4% LES, 32,8% AR). La prednisona fue el corticoide más utilizado (83,9%). El 94,06% mantuvo tratamiento por más de 3 meses. Las complicaciones más frecuentes fueron metabólicas (84,2%), dermatológicas (76,2%) y osteomusculares (51,5%). Conclusión: El Síndrome de Cushing medicamentoso o exógeno es temporal y llega a ceder con la suspensión de la terapia. El sexo femenino fue el predominante, la edad media fue superior a 50 años. La mayoría de los pacientes tenía indicación médica de corticoterapia y lo ha utilizado por más de tres meses. El corticoide más utilizado fue la prednisona. Las complicaciones más frecuentes fueron las metabólicas.