Treatment and long-term outcome in primary nephrogenic diabetes insipidus

Background: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. Methods: Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form. Results: Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0–60) years and at last follow-up 14.0 (0.1–70) years. In adults, height was normal with a mean (standard deviation) score of −0.39 (±1.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients ≥25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients. Conclusion: This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems

Survey of laboratory-acquired infections around the world in biosafety level 3 and 4 laboratories

Laboratory-acquired infections due to a variety of bacteria, viruses, parasites, and fungi have been described over the last century, and laboratory workers are at risk of exposure to these infectious agents. However, reporting laboratory-associated infections has been largely voluntary, and there is no way to determine the real number of people involved or to know the precise risks for workers. In this study, an international survey based on volunteering was conducted in biosafety level 3 and 4 laboratories to determine the number of laboratory-acquired infections and the possible underlying causes of these contaminations. The analysis of the survey reveals that laboratory-acquired infections have been infrequent and even rare in recent years, and human errors represent a very high percentage of the cases. Today, most risks from biological hazards can be reduced through the use of appropriate procedures and techniques, containment devices and facilities, and the training of personnel

Multiple sclerosis: report on 200 cases from Curitiba, Southern Brazil and comparison with other Brazilian series Esclerose múltipla: descrição de 200 casos de Curitiba, Paraná e comparação com outras séries brasileiras

We reviewed the clinical and laboratorial findings of 200 patients in Curitiba, Southern Brazil (25°25'40" S; 49°16'23" W-GR), with multiple sclerosis (MS)according to Poser's criteria. The patients were classified as: clinically definite (A1 and A2) - 142 patients (71%); laboratory-supported definite - 42 patients (21%); and clinically probable - 16 patients (8%). Relapsing-remitting (RR) form was the most common clinical presentation, with 182 (91%), followed by primary progressive (PP)(16 cases, 8%), and only 2 cases with secondarily progressive form (SP). Nine women and 7 men totalized the 16 PP cases. The mean age of onset was 32.0±9.9 (median 32 years). The gender ratio was female 1.8:1 male. All patients, except 3 African-Brazilian, were white. Seven (3.5%) patients developed a clinical history of Devic's syndrome. The initial clinical picture included brainstem/cerebellar syndrome in 126 (63%) cases, sensorial findings in 106 (53%)patients, motor (pyramidal) syndrome in 102 (49.5%), and optic neuritis in 79 (39.5%) cases. 122 (61%) patients had a final EDSS score < 3.5; 45 (22.5%) a score between 3.5 and 5.5, and 33 (16.5%) a score > or = 6.0. There was no significant correlation between the number of relapses or duration of disease with EDSS scores (Spearman's test). Only 14 (7%) of the total number presented the benign form (EDSS< 3.5 after 10 years of disease). We observed a later age of onset and initial clinical findings with higher frequency of brainstem/cerebellar syndrome and optic neuritis, when compared to other Brazilian and Western series<br>Os autores analisaram retrospectivamente 200 pacientes portadores de esclerose múltipla de acordo com os critérios de Poser (1983). Cento e quarenta e dois (71%) dos casos possuíam a forma clinicamente definida, 42 (21%) a forma definida laboratorialmente e 16 (8%) a forma clinicamente provável. A forma recorrente-remitente (RR) foi a mais comumente observada (182 casos, 91%), seguida pela forma progressiva primária (PP)(16 casos, 8%), e somente 2 pacientes com a forma secundariamente progressiva. A idade média de início da doença foi 32,0±9,9 anos (mediana 32 anos).A relação entre os gêneros foi mulheres 1,8:1 homens. Todos os pacientes eram da raça branca, com exceção de 3 pacientes afro-brasileiros. Síndrome de Devic ou neuromielite óptica foi observada em 7 (3,5%) pacientes. Síndrome de tronco cerebral/cerebelar foi a forma mais comum de apresentação inicial da doença, com 126 casos (63%), seguido por achados sensoriais (106 casos, 53%), síndrome motora/piramidal (102 casos, 49,5%), e neurite óptica (79 casos, 39,5%). Nesta série, 122 pacientes (61%) possuíam um EDSS final < 3,5; 45 (22,5%) escore entre 3,5 e 5,5 e 33 (16,5%) um escore > ou = 6.0. Não se observou uma correlação entre o número de surtos ou os anos de doença com o escore EDSS (teste de Spearman). Somente 14 pacientes (7%) possuíam a forma benigna de esclerose múltipla (escore EDSS < 3,5 após 10 anos de doença).Comparada com outras séries brasileiras, a nossa série diferenciou-se em alguns aspectos como idade mais tardia de início da doença e forma clínica de apresentação inicial com maior frequência de envolvimento de nervo óptico e tronco cerebral/cerebelo. Estas observações devem-se provavelmente a fatores locais de seleção dos pacientes encaminhados ao Hospital Universitário de Curitiba, assim como possivelmente à diferente constituição étnica-racial da população local, quando comparada com populações de São Paulo, Rio de Janeiro e Minas Gerais