[How Often is Rare Really Rare? A Survey on the Frequency of Rare Diseases at a University Hospital]. / Wie häufig ist selten wirklich? Eine Erhebung zur Häufigkeit Seltener Erkrankungen an einem Universitätsklinikum.

AIM OF STUDY: The prevalence of rare diseases in hospitals and in university hospitals is unknown. As the ICD-10 coding system does not adequately represent rare diagnoses, the prevalence of rare diseases cannot be estimated based on ICD-10 coded discharge diagnoses. The current hospital reimbursement system does not seem to be designed to capture performance-related higher expenditures in the treatment of rare diseases. The aim of this study was to help estimate the frequency of rare diseases among inpatients treated at a university hospital where documentation of rare diseases is obligatory by analyzing the case load of such diseases for a given year. METHOD: Since 2017, rare diseases have been coded for all inpatients treated at the University Hospital Dresden. This coding is based on the Orpha identification number, which was implemented in the hospital information system ORBIS for this purpose. Result For illustrative purposes, cases in 2019 were evaluated. During this period, 19% of all 70 937 inpatients seen at the University Hospital Dresden were coded as having a rare disease. CONCLUSION: For the first time, a prospective and complete documentation of rare diseases was implemented at a German university hospital. The prevalence of rare diseases of 6 to 8% as defined by the European Union was exceeded several fold. Probably it underestimates the actual prevalence considerably, since the quality of the coding correlates on user compliance. Nevertheless, the results of this survey underline the special role of patients with rare diseases in the medical care at university hospitals.

Transition database for rare diseases and its use for clinical documentation.

Patients with rare diseases commonly suffer from severe symptoms as well as chronic and sometimes life-threatening effects. Not only the rarity of the diseases but also the poor documentation of rare diseases often leads to an immense delay in diagnosis. One of the main problems here is the inadequate coding with common classifications such as the International Statistical Classification of Diseases and Related Health Problems. Instead, the ORPHAcode enables precise naming of the diseases. So far, just few approaches report in detail how the technical implementation of the ORPHAcode is done in clinical practice and for research. We present a concept and implementation of storing and mapping of ORPHAcodes. The Transition Database for Rare Diseases contains all the information of the Orphanet catalog and serves as the basis for documentation in the clinical information system as well as for monitoring Key Performance Indicators for rare diseases at the hospital. The five-step process (especially using open source tools and the DataVault 2.0 logic) for set-up the Transition Database allows the approach to be adapted to local conditions as well as to be extended for additional terminologies and ontologies.

Improved efficiency of patient admission with electronic health records in neurosurgery.

BACKGROUND: Electronic health records (EHRs) may be controversial but they have the potential to improve patient care. We investigated whether the introduction of an electronic template-based admission form for the collection of information about the patient's medical history and neurological and clinical state at admission in the neurosurgical unit might have an impact on the quality of documentation in a discharge record and the amount of time taken to produce this documentation. METHOD: A new digital template-based admission form (EHR) was developed and assessed with QNOTE, an assessment tool of medical notes with standardised criteria and the possibility to benchmark the quality of documentations. This was compared to 30 prior paper-based handwritten documentations (HWD) regarding the utilisation of these medical notes for dictation of medical discharge records. RESULTS: Implementation of the EHR significantly improved the quality of patient admission documentation with a QNOTE mean grand score of 87 ± 22 (p < 0.0001) compared to prior HWD with 44 ± 30. The mean documentation time for HWD was 8.1 min ± 4.1 min and the dictation time for discharge records was 10.6 min ± 3.5 min. After implementation of EHR, the documentation time increased slightly to 9.6 min ± 2.3 min (n.s.), while the time for dictation of discharge records was reduced to 5.1 min ± 1.2 min (p < 0.0001). There was a clear correlation between a higher quality of documentation and a higher needed documentation time as well as higher quality of documentation and lower dictation times of discharge records. CONCLUSION: Implementation of the EHR improved the quality of patient admission documentation and reduced the dictation time of discharge records. IMPLICATIONS: It is crucial to involve stakeholders and users of EHRs in a timely manner during the stage of development and implementation phase to ensure optimal results and better usability.

Hearing Loss amongst the Elderly in a Southeast Asian Population - A Community-based Study.

INTRODUCTION: The aim of this study was to determine the prevalence of hearing loss amongst the elderly population attending community services in Singapore. The usefulness of the Hearing Handicap Inventory for the Elderly Screening version (HHIE-S) in detecting hearing loss was also investigated. MATERIALS AND METHODS: Pure-tone audiometry was carried out on a randomly recruited cohort of people (n = 338) over 60 years old and who were attending rehabilitation and social day care services for senior citizens at St Luke's Elder Care centres located throughout the city. Prior to the hearing test, subjects were administered the HHIE-S questionnaire, which was translated into the language they were most conversant in. RESULTS: The study cohort showed mean pure-tone average at speech frequencies (0.5, 1, 2 and 4 kHz; 4-frequency average hearing level [4FA HL]) of the subjects' better hearing ear that has worsened with age. The percentage of the elderly with disabling hearing impairment (4FA >40 dB HL) was 9.1% (60 to 69 years old), 22.0% (70 to 79 years old), 35.7% (80 years old and above). Across all age groups, males had significantly poorer thresholds at 4 kHz than females. When adjusted for the demographic profile of the country, the prevalence of hearing loss (4FA >25 dB HL) and disabling hearing impairment (4FA >40 dB HL) amongst the elderly in Singapore was 63.7% and 16.2%, respectively. We estimate that there are currently 422,000 elderly with hearing loss greater than 25dB HL and over 100,000 elderly with disabling hearing loss of over 40 dB HL. Of subjects with a disabling hearing impairment, only 7.5% used hearing aids. The use of self-reporting HHIE-S showed poor sensitivity in detecting hearing loss of various severities amongst the elderly. CONCLUSION: These data provide estimates of the prevalence and severity of hearing loss in older persons in Singapore and suggest that more can be done to help the elderly recognise, acknowledge and address hearing loss in the country.