Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant.

Mitochondrial diseases are a phenotype and genotype heterogeneous group of disorders that typically have a multisystemic involvement. The m.3243A>G pathogenic variant is the most frequent mitochondrial DNA defect, and it causes several different clinical syndromes, such as mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and the maternally inherited diabetes and deafness (MIDD) syndromes. Not frequently reported, renal involvement in these diseases is probably underestimated, yet it increases morbidity. It generally manifests as subnephrotic proteinuria and progressive deterioration of kidney function. Adult presentation of mitochondrial diseases is hard to recognize, especially in oligosymptomatic patients or those with exclusive kidney involvement. However, suspicion should always arise when family history, particularly on the maternal side, and multisystemic symptoms, most often of the central nervous system and skeletal muscles, are present. In this review we discuss the clinical diagnosis and approach of patients with renal manifestations in the context of the mtDNA m.3243A>G pathogenic variant.

Quality of Reporting in Upper Gastrointestinal Endoscopy: Effect of a Simple Audit Intervention.

BACKGROUND AND AIM: In contrast to colonoscopy, there are few studies regarding upper gastrointestinal (UGI) endoscopy reporting its quality and ways of improving it. Quality audits are recommended, but their influence on the abovementioned quality is not well studied. Our aim was to evaluate the quality of UGI endoscopy reports and assess the effect of a simple audit intervention on UGI endoscopy reporting quality. METHODS: This was a prospective study in a tertiary referral center, including the evaluation of 1,000 consecutive reports of UGI endoscopies before an audit intervention and 250 after. The reports were analyzed according to performance measures defined by three experienced gastroenterologists. RESULTS: Before the intervention, 51.8% of the incomplete endoscopies did not present any justification for its incompleteness and 88.1% of lesions were correctly described. Overall, 64.1% of the reports were considered as being of high quality. After the audit intervention, follow-up recommendation (53.4 vs. 80.8%, p = 0.001), correct lesion description (88.1 vs. 95.8%, p = 0.001), and correct segment description (92.2 vs. 96.4%, p = 0.020) improved significantly. The rate of unjustified incomplete endoscopies decreased significantly (51.8 vs. 28.9%, p = 0.010). The high-quality endoscopy rate improved 13.9% after the intervention (p < 0.001). Both specialists and residents improved with the audit intervention with a similar percentage of improvement in the high-quality endoscopy rate (13.9 vs. 13.4%). CONCLUSIONS: A simple audit intervention is a good way to improve the quality of reporting of UGI endoscopy, independently of degree and experience. Some of the performance measure accomplishments may depend on the software used by the endoscopy centers and it should be a priority to optimize it.

INTRODUÇÃO: Em contraste com a colonoscopia, há poucos estudos relativos à qualidade dos relatórios da endoscopia digestiva alta (EDA) e métodos para a sua melhoria. Auditorias de qualidade são recomendadas, mas a sua influência na qualidade da EDA não está suficientemente estudada. O objetivo foi avaliar a qualidade dos relatórios de EDA, bem como do efeito de uma intervenção com auditoria. MÉTODOS: Estudo prospetivo realizado num centro terciário de referência. O estudo incluiu a análise de 1,000 relatórios de EDA consecutivas realizadas antes de uma intervenção e de 250 após. Os relatórios foram analisados de acordo com parâmetros de qualidade definidos por três gastrenterologistas com experiência. RESULTADOS: Antes da intervenção, 51.8% das endoscopias incompletas não continham qualquer justificação para o facto e 88.1% das lesões foram corretamente descritas. No total, 64.1% dos relatórios foram considerados de alta qualidade. Após a intervenção, a recomendação de follow-up (53.4% vs. 80.8%, p = 0.001), descrição correta das lesões (88.1% vs. 95.8%, p = 0.001) e descrição correta de todos os segmentos (92.2% vs. 96.4%, p = 0.020) aumentaram significativamente. A percentagem de endoscopias incompletas não justificadas diminuiu significativamente (51.8% vs. 28.9%, p = 0.010). A percentagem de EDA de alta qualidade aumentou 13.9% após a intervenção (p < 0.001). Tanto especialistas como internos melhoraram com a intervenção, verificando-se um aumento similar na percentagem de EDA de alta qualidade (13.9% vs. 13.4%). CONCLUSÕES: Uma intervenção baseada numa auditoria é uma boa forma de melhorar a qualidade da documentação de EDA independentemente do grau ou experiência. O cumprimento de parâmetros de qualidade pode depender do software utilizado e como tal o seu melhoramento deve ser uma prioridade.