OBJECTIVE: Idiopathic hypersomnia (IH) is a disorder of central hypersomnolence that results in excessive daytime sleepiness in the absence of another identifying cause. Case studies from sleep clinic patients may not be a fair representation of the wider IH population. This study aims to better characterize patients diagnosed with IH in Australia and New Zealand using online patient-driven survey data.
METHODS: A retrospective analysis of 686 participants from the Hypersomnolence Australia Patient Data Registry diagnosed with either IH (n = 554), narcolepsy type 1 (NT1, n = 54) or narcolepsy type 2 (NT2, n = 78) between January 2013 and October 2022 was performed.
RESULTS: Participants with IH reported additional sleep disorders such as OSA (16.4%) and restless legs syndrome (7.9%) and notable comorbidities included depression (46.2%) and anxiety (50%). There was a mean delay in diagnosis of 10 years in participants with IH, when compared to symptom onset. IH presents with unique but also overlapping symptomatology with NT2, with similar reporting of long daytime naps, unrefreshed sleep and automatic behavior. Modafinil was the most common medication (45.5%) used by participants with IH followed by dexamphetamine (44.2%). Most participants with IH reported receiving physician advice regarding positive lifestyle changes but recommend that newly diagnosed patients be given more advice about medication use.
CONCLUSIONS: This study demonstrates a delay in IH diagnosis when compared to symptom onset and overlapping features of IH and NT2. It also highlights the heterogeneous presentation of IH and the value of large patient registries in future research.

Aim: Although the US FDA encourages manufacturers of medical devices to submit real-world evidence (RWE) to support regulatory decisions, the ability of real-world data (RWD) to generate evidence suitable for decision making remains unclear. The 2017 Medical Device User Fee Amendments (MDUFA IV), authorized the National Evaluation System for health Technology Coordinating Center (NESTcc) to conduct pilot projects, or \'Test-Cases\', to assess whether current RWD captures the information needed to answer research questions proposed by industry stakeholders. We synthesized key lessons about the challenges conducting research with RWD and the strategies used by research teams to enhance their ability to generate evidence from RWD based on 18 Test-Cases conducted between 2020 and 2022. Materials & methods: We reviewed study protocols and reports from each Test-Case team and conducted 49 semi-structured interviews with representatives of participating organizations. Interview transcripts were coded and thematically analyzed. Results: Challenges that stakeholders encountered in working with RWD included the lack of unique device identifiers, capturing key data elements and their appropriate meaning in structured data, limited reliability of diagnosis and procedure codes in structured data, extracting information from unstructured electronic health record (EHR) data, limited capture of long-term study end points, missing data and data sharing. Successful strategies included using manufacturer and supply chain data, leveraging clinical registries and registry reporting processes to collect and aggregate data, querying standardized EHR data, implementing natural language processing algorithms and using multidisciplinary research teams. Conclusion: The Test-Cases identified numerous challenges working with RWD but also opportunities to address these challenges and improve researchers\' ability to use RWD to generate evidence on medical devices.

To improve current data systems for institutional decision-making, the Adult Liver Transplant Registry was established at the Hospital Italiano de Buenos Aires, Argentina. This article describes its design and implementation and reports on the outcomes for patients transplanted since its January 2020 launch. A multidisciplinary team designed the registry by identifying key variables from a literature review while considering balance between data depth and feasibility. Rigorous quality control measures were enforced, including monthly audits and staff training. Benchmark indicators for post-transplant outcomes were established. As of November 2023, the registry included 136 transplants. Its implementation and maintenance were straightforward, with no significant difficulties encountered. Cirrhosis was the predominant indication (77%) for transplant. Only one living donor transplantation was performed. Post-transplant results generally aligned with benchmarks, but rates of biliary complications slightly exceeded the recommended thresholds. The one-year post-transplant survival rate was 87%. The successful registry implementation provides a robust framework for research, treatment management, and patient care enhancement within a liver transplant unit.

OBJECTIVE: This study aimed to determine the total prevalence of celiac disease (CeD), including undiagnosed cases, in a population-based study of adults screened for CeD.
METHODS: The study used the fourth Trøndelag Health Study (HUNT4), conducted in 2017-2019, where 56,042 adult (aged >20 years) residents of Nord-Trøndelag County, Norway, participated. Serum samples from 54,505 participants were analyzed for anti-transglutaminase 2 IgA and IgG. Seropositive individuals were invited for a clinical assessment, including upper endoscopy with duodenal biopsies. Previously diagnosed and seronegative CeD cases were identified through linkage to hospital records and the Norwegian Patient Registry.
RESULTS: The rate of CeD seropositivity was 2.0% (1107/54,505). Out of these, 724 individuals attended the clinical assessment. Additionally, the hospital records and registry identified individuals with a known CeD diagnosis, that were seronegative or without serology in HUNT4 or seropositive in HUNT4 but did not participate in the clinical assessment. In total, the study confirmed a new CeD diagnosis after participation in HUNT4 in 470 individuals and a known CeD diagnosis before participation in HUNT4 in 383 individuals. The total biopsy-confirmed prevalence of CeD was 1.5% (853/56,042), and the ratio of new, previously undiagnosed CeD cases (after HUNT4) to known, previously diagnosed CeD cases (before HUNT4) was 1.2:1 (470/383).
CONCLUSIONS: The total prevalence of CeD in this population-based study of adults in Norway was high and many individuals were previously undiagnosed. Detection of CeD should be improved, because early diagnosis is crucial for effective management and prevention of complications.

OBJECTIVE: Although minimally invasive hysterectomy offers advantages, abdominal hysterectomy remains the predominant surgical method. Creating a standardized dataset and establishing a hysterectomy registry system present opportunities for early interventions in reducing volume and selecting benign hysterectomy methods. This research aims to develop a dataset for designing benign hysterectomy registration system.
METHODS: Between April and September 2020, a qualitative study was carried out to create a data set for enrolling patients who were candidate for hysterectomy. At this stage, the research team conducted an information needs assessment, relevant data element identification, registry software development, and field testing; Subsequently, a web-based application was designed. In June 2023the registry software was evaluated using data extracted from medical records of patients admitted at Al-Zahra Hospital in Tabriz, Iran.
RESULTS: During two months, 40 patients with benign hysterectomy were successfully registered. The final dataset for the hysterectomy patient registry comprise 11 main groups, 27 subclasses, and a total of 91 Data elements. Mandatory data and essential reports were defined. Furthermore, a web-based registry system designed and evaluated based on data set and various scenarios.
CONCLUSIONS: Creating a hysterectomy registration system is the initial stride toward identifying and registering hysterectomy candidate patients. this system capture information about the procedure techniques, and associated complications. In Iran, this registry can serve as a valuable resource for assessing the quality of care delivered and the distribution of clinical measures.

Background: The Angelman Syndrome Registry (RISA) was developed as a retrospective study with the following objectives: to evaluate the clinical history of individuals with Angelman Syndrome (AS) in Italy and compare it with the existing literature; to investigate the feasibility of gathering data by directly involving participants in the data collection process; and to explore the relationship between different symptoms and genotypes. Methods: Established in 2018, RISA enrolled a total of 82 participants, with 62 (75.6%) providing complete data. Demographic, clinical, and genetic information was collected using electronic case report forms. Descriptive statistics characterized the sample, while associations between genotype and clinical characteristics were examined. Results: Descriptive analysis revealed a median participant age of 8.0 years, with males comprising 48.8% of the sample. Deletion (58.1%) was the most common genotype. The majority (82.2%) experienced epilepsy, with seizures typically onset before 3 years of age. Most patients (86.2%) required multiple anti-epileptic drugs for control, with generalized tonic-clonic seizures and atypical absence seizures being most prevalent. The deletion group exhibited more severe developmental delays and a trend towards higher seizure severity. Sleep problems affected 69.4% of participants, characterized by difficulties in sleep onset and maintenance. Conclusions: This study offers valuable insights into the clinical history and genetic characteristics of AS in Italy, consistent with the prior literature. Additionally, it underscores the efficacy of patient registries in capturing comprehensive data on rare diseases such as AS, highlighting their potential to advance research and enhance patient care.

A szerzők összefoglalják a Nemzeti Szívinfarktus Regiszter létrehozásának és működésének fontosabb adatait. Az online rendszerben kötelező jelleggel minden egészségügyi szolgáltató részt vesz, ahol heveny szívinfarktus miatt betegeket kezelnek, vagy a patológiai vizsgálat során akut szívinfarktust diagnosztizálnak. Jelenleg a regiszter adatbázisában 153 055 beteg adatával rendelkezünk. A regisztrált események 47%-a ST-elevációval járó (STEMI), míg 53%-a ST-elevációval nem járó (NSTEMI) szívinfarktus. Az évek során a regiszter adatbázisának teljessége a finanszírozott kezelésekhez viszonyítva 88–93% között volt. A katéteres érmegnyitás a STEMI-betegek 82,8%-ában, az NSTEMI-betegek 58,2%-ában történt meg. A betegek rehabilitációjának aránya elmarad a kívánatostól, mivel jelenleg szervezett rehabilitációs kezelés csak fekvőbeteg-intézetben történik. Az intézeti rehabilitációs ellátásban a STEMI-betegek 45,2%-a, az NSTEMI-betegek 29%-a részesült. A teljes 1 éves halálozás 2022-ben STEMI esetén 21,9%, NSTEMI esetén 24,5% volt. Amennyiben katéteres érmegnyitás történt, lényegesen kisebb volt a halálozás (17,1%, illetve 14,4%). A Nemzeti Szívinfarktus Regiszter a betegellátás minőségbiztosításának fontos eszköze, és egyben megteremti az epidemiológiai kutatás lehetőségét. Orv Hetil. 2024; 165(24–25): 944–949.

Congenital primary hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) are targeted by the German and Austrian newborn screening. For both diseases, there are registries for quality improvement, based on standardized observational data from long-term patient follow-up, under the auspices of the DGKED study group. By September 2021, the CH registry HypoDOK includes datasets from 23,348 visits of 1,840 patients, and the CAH registry contains datasets from 36,237 visits of 1,976 patients. Here, we report on the recruitment process, patient characteristics, and research contributions from the registries, and underline that the registries are an important tool to improve patient care and outcomes. Registries for rare conditions should thus be considered as an important public health measure and they should be adequately institutionalized and funded.

OBJECTIVE: There is an increasing awareness of the evidence-based selection of outcomes to be measured in clinical trials and clinical practice. Currently, there is no core outcome set (COS) for cardio-oncology, which may hinder the (inter)national comparison of the effectiveness of research and the quality of cardio-oncology care. The aim of this study is to develop a standard and pragmatic patient-centred outcome set to assess and monitor cancer patients and survivors at risk of or with cardiovascular diseases.
RESULTS: A list of outcome domains was generated through a review of registries and guidelines, and six patient interviews. The project team reviewed and refined the outcome domains prior to starting a two-round Delphi procedure conducted between January-June 2022. The panellists, including healthcare providers and researchers, were invited to rate the importance of the outcomes. 26 experts from 11 countries rated a list of 93 outcomes (round 1) and 63 outcomes (round 2) to gain consensus on a list of outcome measures, and of demographic factors, health status and treatment variables. The final COS includes 15 outcome measures, reflecting four core areas: life impact (n = 2), pathophysiological manifestations (n = 9), resource use/economic impact (n = 1), and mortality/survival (n = 3). Next, six demographic factors, 21 health status, three cardiovascular and nine cancer variables were included.
CONCLUSIONS: This is the first international development of a COS for cardio-oncology. This set aims to facilitate (inter)national comparison in cardio-oncology care, using standardised parameters and meaningful patient-centred outcomes for research and quality of care assessments.

BACKGROUND: Progressive supranuclear palsy (PSP) is a rare neurodegenerative brain disease with rapid progression and currently limited treatment options. A comprehensive understanding of disease progression, management, and healthcare resource utilization is limited, and further research is challenging due to the small population of patients. To address these challenges in conducting PSP research, individuals with PSP were recruited using a multichannel approach tailored specifically to the PSP community. We performed a retrospective observational study using data abstracted from participant medical records collected from multiple patient care centers.
RESULTS: Seventy-two individuals with PSP were eligible for inclusion. On average, 144 medical documents per participant were collected from an average of 2.9 healthcare centers per participant, with a mean study period of 7.9 years. Among participants with a date of symptom onset documented in the medical records, the median time for the onset of the first fall was 2.0 years (IQR 3.2) before diagnosis, the median onset of unsteady gait or gait impairment was 1.2 years (IQR 1.8) before diagnosis, and the median onset of mobility problems was 0.8 years (IQR 1.8) before diagnosis. The most widely utilized healthcare resources, with at least 85% of participants using each of these resources at some point during the disease course, were medications (100%), imaging (99%), assistive devices (90%), supportive care (86%), and surgeries and procedures (85%).
CONCLUSIONS: This retrospective study adds to the current understanding of PSP symptoms, comorbidities, and healthcare resource utilization (HRU) across the disease journey. By involving individuals with PSP and their caregivers or legally authorized representatives in the research process, this study was unique in its approach to participant recruitment and enabled individuals to participate in research without the need for travel. We collected medical documents from multiple healthcare centers, allowing for broad data collection covering the entire disease journey. This approach to the collection of real-world data may be used to generate valuable insights into many aspects of disease progression and management in PSP and many other rare diseases.