Scoping review of the recommendations and guidance for improving the quality of rare disease registries.

BACKGROUND: Rare disease registries (RDRs) are valuable tools for improving clinical care and advancing research. However, they often vary qualitatively, structurally, and operationally in ways that can determine their potential utility as a source of evidence to support decision-making regarding the approval and funding of new treatments for rare diseases. OBJECTIVES: The goal of this research project was to review the literature on rare disease registries and identify best practices to improve the quality of RDRs. METHODS: In this scoping review, we searched MEDLINE and EMBASE as well as the websites of regulatory bodies and health technology assessment agencies from 2010 to April 2023 for literature offering guidance or recommendations to ensure, improve, or maintain quality RDRs. RESULTS: The search yielded 1,175 unique references, of which 64 met the inclusion criteria. The characteristics of RDRs deemed to be relevant to their quality align with three main domains and several sub-domains considered to be best practices for quality RDRs: (1) governance (registry purpose and description; governance structure; stakeholder engagement; sustainability; ethics/legal/privacy; data governance; documentation; and training and support); (2) data (standardized disease classification; common data elements; data dictionary; data collection; data quality and assurance; and data analysis and reporting); and (3) information technology (IT) infrastructure (physical and virtual infrastructure; and software infrastructure guided by FAIR principles (Findability; Accessibility; Interoperability; and Reusability). CONCLUSIONS: Although RDRs face numerous challenges due to their small and dispersed populations, RDRs can generate quality data to support healthcare decision-making through the use of standards and principles on strong governance, quality data practices, and IT infrastructure.

Outcome of pregnancies in women with pulmonary hypertension: a single-centre experience from South India.

OBJECTIVE: To study maternal complications and pregnancy outcome in women with pulmonary hypertension, attending a tertiary centre in south India. STUDY DESIGN: Retrospective observational study. SETTING: Tertiary centre in south India. POPULATION: Pregnant women with pulmonary hypertension. METHOD: Data regarding demographics, clinical course, medication received, and echocardiographic diagnosis regarding pulmonary hypertension and antenatal care received were collected from the records. Details of labour and delivery, and postpartum follow up were retrieved. We compared the outcome based on the presence or absence of cyanosis and right ventricular systolic pressure levels. MAIN OUTCOME MEASURES: Maternal mortality, occurrence of complications such as heart failure, fetal growth restriction. RESULTS: There were 81 pregnancies in 73 women with pulmonary hypertension. The majority of them had pulmonary hypertension secondary to congenital heart disease (80.8%); 17.8% had Eisenmenger syndrome. An advanced pulmonary artery hypertension (PAH) medication, sildenafil, was administered in 25 (31.3%) pregnancies. There were four maternal deaths, of which three had Eisenmenger syndrome. Heart failure complicated 6.3% and fetal growth restriction 26.3% of pregnancies. Morbidity was significantly increased in women with pulmonary hypertension associated with a cyanotic cardiac lesion or with right ventricular systolic pressure >70 mmHg. CONCLUSION: Despite advances in care, mortality in pregnant women with pulmonary hypertension is a matter of concern, especially in those with Eisenmenger syndrome. Multidisciplinary team management in tertiary centres and the use of advanced PAH medications even in low- to middle-income countries with limited resources, could lead to a reduction in morbidity and mortality related to pulmonary hypertension. TWEETABLE ABSTRACT: Multidisciplinary care and use of new medication may improve outcomes in pregnant women with pulmonary hypertension.

Increasing adherence to treatment in epilepsy: what do the strongest trials show?

Patient non-adherence to prescribed anti-epileptic drugs (AEDs) remains a challenge to successful treatment of patients with epilepsy. However, the literature on epilepsy does not document a comprehensive review of interventions to improve adherence as a means to improve clinical outcomes. This study systematically reviews existing literature on interventions to enhance AED adherence and clinical outcomes, and the measures of adherence included in these studies. We selected randomized controlled trials (RCTs) of interventions to enhance adherence with AEDs, which also measured clinical outcomes, with at least 80% follow-up of participants for at least 6 months, from a comprehensive Cochrane review of adherence interventions for medications, complete to January 2013, and updated searches for additional AED studies in multiple bibliographic databases to January 2016. Two review authors independently extracted all data and a third author resolved disagreements. The present update included one trial from the Cochrane review and three RCTs published since, bringing the total number of RCTs on this topic to four. Two types of intervention were tested: educational (e.g., providing information to the patient or carer about treatment characteristics, duration, dosage regime, and how to use the AED) and behavioral (activity in order to remind the patient to take a medicine). Methods of measuring adherence included a combination of direct (plasma AED levels) and indirect measures (prescription refill frequency and appointment keeping) or use alone of self-report adherence on standardized scales. Despite the importance of the problem, evidence is limited concerning enhancement of adherence among people with epilepsy. However, the trials available to date show that medication adherence in epilepsy can be improved, leading to better seizure control.

A new objective scoring system for the prediction of successful induction of labour.

A prospective study was done in 311 women undergoing induction of labour for the formulation of a new score, which will be more objective than the conventional Bishop's score. Pre-induction cervical assessment was done by the transvaginal sonographic parameters followed by the digital examination. Labour induction was successful in 79.09%. A new score was formulated using the parameters having independent association and weighting of individual components was given according to its regression coefficients. A new score with a maximum value of 13 was proposed. The best cut-off point for the new score in receiver operating characteristics curve was six with a sensitivity of 95.5% and specificity of 84.6%. The new score was found to have a better area under the curve than the conventional score.