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Mutations in SQSTM1 gene have been recently identified as a rare cause of progressive childhood neurodegenerative disorder. LGH447 So far, only 25 patients from 10 unrelated families were reported.

We report on the first Tunisian case of an 11-year-old girl with cerebellar ataxia, chorea and ophthalmoparesis. Brain MRI was normal. Whole-exome sequencing revealed a homozygous mutation c.823_824del(p.Ser275Phefs*17) in SQSTM1 gene (GenBank NM_003900.4).

By pooling our data to the data of literature, we delineated the phenotypic spectrum and stressed on genetic heterogeneity of this rare neurodegenerative disease.
By pooling our data to the data of literature, we delineated the phenotypic spectrum and stressed on genetic heterogeneity of this rare neurodegenerative disease.
To validate the Martini nomogram predicting the decline in estimated glomerular filtration rate after robotic-assisted partial nephrectomy.

Estimated glomerular filtration rate of 406 patients from a single surgeon series was calculated before robotic-assisted partial nephrectomy and at postoperative intervals. To determine the risk group, we calculated the total score and corresponding risk of significant estimated glomerular filtration rate reduction at 15months using the Martini nomogram. The primary outcome was a reduction in estimated glomerular filtration rate of ≥25% from preoperative levels between 1 and 12months after surgery.

The median length of follow up for this study was 12months (interquartile range 6-12months). Overall, 134 (33%) patients were in the low-, 143 (35%) in the intermediate-, 119 (29%) in the high- and 10 (2%) in the very high-risk groups. The Kaplan-Meier estimates for the probability of significant estimated glomerular filtration rate reduction by 12months after robotic-assisted partial nephrectomy was 12.9% in the low-risk group, 24.0% in the intermediate-risk group, 49.7% in the high-risk group and 40.0% in the very high-risk group. Harrell's C-index for discriminating between those with and without a significant reduction in estimated glomerular filtration rate 1-12months after robotic-assisted partial nephrectomy was 0.73 (95% confidence interval 0.68-0.78).

The risk groups proposed by the Martini nomogram are accurate in predicting those at higher risk for a >25% decline in postoperative estimated glomerular filtration rate after robotic-assisted partial nephrectomy at 12months.
25% decline in postoperative estimated glomerular filtration rate after robotic-assisted partial nephrectomy at 12 months.
Ureteric stone obstruction commonly presents to the emergency department, with definitive management often involving ureteroscopy and laser lithotripsy. Insertion of a ureteric stent prior to staged lithotripsy is commonly performed in the public healthcare system. Foreign bodies in the urinary tract are also known to increase urinary tract infection (UTI) risk. This study aims to evaluate the association between stent dwell time and UTI prior to lithotripsy.

The medical records of all patients who were treated for ureteric stones with initial stent insertion and staged lithotripsy, from 1 January 2018 to 30 June 2019 at a single tertiary centre, by eight urologists were retrospectively reviewed. Demographic features, disease factors and urine culture data were collected and analysed.

Of the 172 patients (median age 56.7 years) identified, one-third had a positive pre-stent urine culture. Twenty-three percent had a positive pre-lithotripsy urine culture with 38% of females compared with 15% of males having a positive culture (P = 0.001). link2 Only 4.3% of patients had a pre-lithotripsy UTI when the stent dwell time was less than 1 month compared with 26.2% when ureteric stents were in situ for longer than 1 month (P = 0.021). The correlation between ureteric stent dwell time and pre-lithotripsy UTI was not linear. Patient comorbidities, stone size, burden and location were not statistically correlated to pre-lithotripsy UTI.

In delayed two-staged surgical management of acute urolithiasis, optimal ureteric stent dwell time is less than 1 month to reduce pre-lithotripsy UTI. Female gender is an independent risk factor for pre-lithotripsy UTI.
In delayed two-staged surgical management of acute urolithiasis, optimal ureteric stent dwell time is less than 1 month to reduce pre-lithotripsy UTI. Female gender is an independent risk factor for pre-lithotripsy UTI.
To examine workplace stressors reported by junior doctors and identify variables associated with adverse mental health outcomes.

Cross-sectional analysis of national 2013 survey of Australian doctors focusing on junior medical officers (JMOs) (N=3,053; 24.9% of total sample). Primary outcomes were caseness of common mental disorder (CMD) and suicidal ideation in the past year.

Perceived level of conflict between study/career and family/personal responsibility (OR=3.76, 95% CI 2.61-5.43; p<0.01) and sleep deprivation (OR=2.19, 95% CI 1.46-3.28; p<0.01) were significantly associated with CMD, whilst perceived level of conflict between study/career and family/personal responsibility (OR=3.13, 95% CI 1.78-5.50; p<0.01) and bullying (OR=2.92, 95% CI 1.42-6.03; p<0.01) were most strongly associated with suicidal ideation in adjusted models.

This study identifies modifiable workplace variables that are influential in junior doctors' mental health, and in doing so, provides meaningful evidence-informed targets for future interventions to prevent suicide and mental disorder in this population. This article is protected by copyright. All rights reserved.
This study identifies modifiable workplace variables that are influential in junior doctors' mental health, and in doing so, provides meaningful evidence-informed targets for future interventions to prevent suicide and mental disorder in this population. This article is protected by copyright. All rights reserved.
To examine the current status of care and needs of adult congenital heart disease (ACHD) services in the Central and South Eastern European (CESEE) region.

We obtained data regarding the national ACHD status for 19 CESEE countries from their ACHD representative based on an extensive survey for 2017 and/or 2018. Thirteen countries reported at least one tertiary ACHD centre with a median year of centre establishment in 2007 (interquartile range 2002-2013). ACHD centres reported a median of 2114 patients under active follow-up with an annual cardiac catheter and surgical intervention volume of 49 and 40, respectively. The majority (90%) of catheter or surgical interventions were funded by government reimbursement schemes. However, all 19 countries had financial caps on a hospital level, leading to patient waiting lists and restrictions in the number of procedures that can be performed. The median number of ACHD specialists per country was 3. The majority of centres (75%) did not have ACHD specialist nurses. to address the inequalities of care across the continent.Dietary intake may affect maternal health, but it remains unclear about puerperal dietary intake and its association with maternal health. This study investigated the dietary patterns and their related factors and association with postpartum weight retention (PPWR) in Chinese puerperal women. Participants were from the mother-infant cohort study, in which both mothers and infants were followed up from childbirth to the next 2 years, in seven cities around China. Maternal puerperal dietary patterns were derived by a food frequency questionnaire and principal component analysis (PCA) within 1 month postpartum. PPWR was assessed by the difference of weight at 42 days and 6 months postpartum minus the pre-pregnancy weight. Of 503 postpartum women, four dietary patterns were identified, including 'plant food' pattern (rice and vegetables as dominant foods), 'diverse' pattern (starchy roots, fruit, livestock meat and aquatic products), 'traditional northern' pattern (poultry, eggs and soup) and 'marine-flour' pattern (flour, coarse food grains and marine fish). The diverse pattern was associated with professional puerperal family care and counselling service (p less then .05). PPWRs at 42 days and 6 months postpartum were 6.37 and 4.70 kg averagely. The plant food dietary pattern tended to be associated with higher 42-day PPWR (β = .105, p less then .05), and diverse pattern was associated with lower 6-months PPWR (β = -.137, p less then .05). Conclusively, this study presented four dominant dietary patterns in Chinese postpartum women and showed a lower PPWR in adherence to diverse dietary pattern. The results would provide evidence to furtherly guide dietary practice and improve maternal health.
Previous research has shown hearing handicap to be reduced following hearing aid use or cochlear implantation in short-to-medium follow-up periods, yet the impact of interventions for hearing loss on hearing handicap in the long term remains understudied. This article reports hearing handicap at 6 months, 12 months, and 5 years after either hearing aid provision or cochlear implantation.

Observational study.

A study of 115 participants from the Studying Multiple Outcomes after Aural Rehabilitative Treatment (SMART) study cohort assessed self-reported hearing handicap using the Hearing Handicap Inventory for the Elderly Screening version (HHIE-S) at baseline, 6 months, 12 months, and 5 years. Generalized estimating equations (GEE) were used to estimate the population mean HHIE-S score over time, accounting for the correlated nature of repeated measures data, and multiple imputation with chained equations was performed to impute missing data.

Compared to baseline, mean HHIE-S scores after hearing aid provision were significantly reduced at 6 months (mean = -7.96, 95% confidence interval [CI] -10.40, -5.53), 12 months (mean = -6.58, 95% CI -9.26, -3.90), and 5 years (mean = -4.58, 95% CI -7.87, -1.30). After cochlear implantation, mean hearing handicap scores were also significantly lower compared to baseline at 6 months (mean = -8.18, 95% CI -11.07, -5.30), 12 months (mean = -10.04, 95% CI -12.92, -7.16), and 5 years (mean = -8.97, 95% CI -12.92, -7.16).

This study found short-term benefits from hearing aids and cochlear implantation on hearing handicap were maintained over 5 years. Laryngoscope, 2020.
This study found short-term benefits from hearing aids and cochlear implantation on hearing handicap were maintained over 5 years. Laryngoscope, 2020.
In previous reports, almost half of Golden Retrievers with Pigmentary Uveitis (GRPU) have lost vision in an eye within a year of diagnosis. The purpose of this study was to determine the proportion of GRPU affected dogs with vision loss, risk factors for the development of glaucoma, and effect of treatment on disease progression.

Client owned Golden Retrievers.

Two complete ophthalmic examinations were performed at least 6months apart. Visual status, presence of glaucoma, GRPU score, and treatment were recorded. A proportional odds (ordinal logistic) model was fitted to determine whether the use of topical steroidal or non-steroidal (NSAID) ophthalmic preparations was associated with a change in GRPU scores.

Twenty-nine Golden Retrievers, 58 eyes, were included. One eye was enucleated after the first examination. On first examination, 57/58 (98.3%) eyes and 29/29 (100%) dogs were visual. At the second examination, 48/57 (84.2%) eyes and 25/29 (86.2%) dogs were visual. link3 Vision loss in 7/9 (77.8%) eyes was secondary to glaucoma.
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