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Degeneration of dopaminergic neurons in the substantia nigra and their striatal axon terminals causes cardinal motor symptoms of Parkinson's disease. In idiopathic cases, high levels of mitochondrial DNA alterations, leading to mitochondrial dysfunction, are a central feature of these vulnerable neurons. Here we present a mouse model expressing the K320E variant of the mitochondrial helicase Twinkle in dopaminergic neurons, leading to accelerated mitochondrial DNA mutations. These K320E-TwinkleDaN mice showed normal motor function at 20 months of age, although ∼70% of nigral dopaminergic neurons had perished. Remaining neurons still preserved ∼75% of axon terminals in the dorsal striatum and enabled normal dopamine release. Transcriptome analysis and viral tracing confirmed compensatory axonal sprouting of the surviving neurons. We conclude that a small population of substantia nigra dopaminergic neurons is able to adapt to the accumulation of mitochondrial DNA mutations and maintain motor control. [ABSTRACT FROM AUTHOR]

The Quality of Life Assessment in Spina bifida for Teenagers (QUALAS-T) is a tool used to evaluate health-related quality of life (HRQOL) in adolescents with spina bifida (SB). The purpose of this study was to translate the QUALAS-T into Korean and validate its Korean version (QUALAS-T-K). Translation and validation processes were carried out in accordance with a specified protocol, including forward and back translation, a content validity study, and a main study. The tool's reliability was evaluated based on its internal consistency and stability. Factor analysis was conducted, and convergent validity was confirmed using the KIDSCREEN-27. Of the 59 participants, 35 had lipomyelomeningoceles. Confirmatory factor analysis confirmed that QUALAS-T-K had the same structure as QUALAS-T. The QUALAS-T-K showed excellent internal consistency (α: 0.872–0.893, ω: 0.875–0.885), test–retest reliability (ICC:0.84–0.92), and weak to strong correlations with the KIDSCREEN-27. The QUALAS-T-K, developed by reflecting on the characteristics of SB and considering the applicability of Korean cultural characteristics and clinical practice, is a convenient and reliable tool with excellent internal consistency and stability. This could be a useful tool in clinical and research settings for HRQOL evaluation of adolescents with SB. Optimizing health-related quality of life (HRQOL) is one of the goals of individuals with spina bifida (SB), and HRQOL measures that reflect the condition specificity of SB should be performed. The QUAlity of Life Assessment in Spina bifida for Teenagers (QUALAS-T), developed in the USA, is a self-reported HRQOL questionnaire used in research and clinical practice for adolescents with SB. This study revealed that the QUALAS-T, translated into Korean, is a valid, convenient, and reliable tool. The Korean version of the QUALAS-T is a useful tool that can be used in clinical and research settings to optimize HRQOL in adolescents with SB. [ABSTRACT FROM AUTHOR]

This study aimed to translate and cross-culturally adapt the QUAlity of Life Assessment in Spina bifida for Children (QUALAS-C) and validate the Korean version of the QUALAS-C (QUALAS-C-K). Three urologists translated the QUALAS-C into Korean. Facial and content validity were assessed in the pilot study. Back-translation into English was performed. In the main study, the QUALAS-C-K and Korean version of KIDSCREEN-27 were administered simultaneously. Test-retest reliability was confirmed by re-administering the QUALAS-C-K. Internal consistency was verified using Cronbach's alpha. Factor analysis was performed, and convergent and divergent validity were demonstrated using the Korean version of KIDSCREEN-27. A total of 53 children with spina bifida participated in the main study. Cronbach's alpha for the overall instrument determined good internal consistency (0.72–0.85), the intraclass correlation coefficient showed good stability (0.74–0.77), and the factor analysis converged to the same two-factor structure as in the original version. Construct validity revealed weak-to-moderate associations (r ≤ 0.57) between QUALAS-C-K and K-KIDSCREEN-27, indicating that QUALAS-C-K measures different aspects of the HRQOL than K-KIDSCEEN-27. The QUALAS-C-K is a reliable and valid instrument for assessing the health-related quality of life of children with SB in Korea. Health-related quality of life (HRQOL) is an important patient-reported outcome among children with spina bifida (SB). The QUAlity of Life Assessment of Spina bifida for Children (QUALAS-C) is a self-reported, age-appropriate, and condition-specific HRQOL questionnaire for children with SB, developed in the United States. Our study demonstrated that the Korean version of the QUAlity of Life Assessment of Spina bifida for Children (QUALAS-C-K) is a valid and reliable tool. The QUALAS-C-K is a succinct and valuable questionnaire that can be used to assess HRQOL of children with SB, particularly focusing on bladder and bowel problems in clinical practice and research. [ABSTRACT FROM AUTHOR]

This study aims to identify the epidemiology and effects of facial fractures on return to play (RTP) in Major League Soccer (MLS) and the English Premier League (EPL). A total of 39 MLS players and 40 EPL players who sustained facial fractures from 2007 to 2019 were identified. Data on player demographics, the injury, and the impact of their injury on RTP were collected. Elbow-to-head was the most common mechanism of injury (20.3%). The most common fracture involved the nasal bone (48.3%). Most players (90%) RTP the same season. Players who sustained nasal fractures missed significantly fewer games (p < 0.001) than those who suffered other craniofacial fractures. Players treated surgically missed significantly more games (3.21 vs. 0.71, p = 0.006) and days (30.1 vs. 8.70, p = 0.002) than those managed nonoperatively. Significantly more EPL players who sustained facial fractures wore headgear upon RTP compared to MLS players (82% vs. 56%, p <0.01). Most professional soccer players who sustain a facial fracture RTP the same season, but their recovery time can vary depending on the type of fracture, injury management, or injury severity. Our findings can help inform future craniofacial injury management as well as guidelines on player safety and fracture prevention. [ABSTRACT FROM AUTHOR]

In this paper, we evaluate the feasibility of using ecological momentary assessment (EMA) to understand urinary (UI) and fecal (FI) incontinence in adults with spina bifida (SB). As part of a larger 30-day prospective study to understand the incontinence in adults with SB (N = 89), participants completed end-of-day EMA diaries assessing the frequency and context of UI and FI. We used these data to assess the method feasibility across six dimensions: (a) compliance, or data entry which is consistent with study protocol and substantially complete; (b) reactivity, or behavior change attributed to study participation; (c) participant acceptability, or convenience and ease of method beneficial to compliance; (d) data capture, or the volume of incontinence behaviors collected; (e) the accuracy of incontinence reports; and f) participant-provided feedback for future studies. Participants were highly compliant with diary entry protocol and schedule: submitting 95.7% (2576/2700) of the expected total daily entries. The average completion time was two minutes. Neither the total number of submissions nor the completion time varied by demographic characteristics or health history. A sufficient volume of incontinence and affective outcomes were captured, with small downtrends in reporting of UI and affect over time. Exit survey recall was highly correlated with diary reports. Participants found the methodology to be acceptable, reported their experiences honestly, enjoyed and felt comfortable participating in the study and would engage in similar study in the future. Accurate information about the daily context of UI and FI is a key factor in the success of intervention or education programs relying on this information. Our findings demonstrate that EMA is a feasible way to describe UI and FI in adults with SB. [ABSTRACT FROM AUTHOR]

Background: Testicular adrenal rest tumors (TARTs) increase the risk of infertility in males with classic congenital adrenal hyperplasia (CAH). There is no consensus regarding at what age screening testicular ultrasounds should begin and how often they should be repeated. Furthermore, it is unknown whether patients and parents are aware of the significance of TARTs. Objective: The objective of the study was to investigate awareness, concern, and screening rates for TARTs in males with classic CAH. Methods: Males with CAH and parents completed an online questionnaire from 2019 to 2020. Responses to questions about TARTs were analyzed. Fisher's exact test was used to determine statistical significance. Results: Of 123 responders, 14 were males with CAH (range 16–54 years) and 109 were parents of males with CAH (son's age range infancy to 37 years). Of all responders, 74% were concerned about the possibility of TARTs, 48% had discussions about TARTs with their endocrinologist, and 42% were aware of possible infertility in males with CAH. There was no difference between responses provided by affected males and parents for these topics (p ≥ 0.08). Among male responders with CAH, 93% had at least one testicular ultrasound, and 77% had undergone more than one. Among parent responders, 30% of their sons had at least one testicular ultrasound, and 61% had more than one. The frequency, total number, and age when the first testicular ultrasound was obtained were inconsistent in both groups. Fifty percent of male responders with CAH and 11% of sons were referred to a urologist for evaluation. Conclusions: Although most responders were concerned about TARTs, less than half recalled discussing this issue with their endocrinologist, and less than half were aware of the possibility of infertility. Although TARTs are most often treated medically, several responders were referred to a urologist. Standardized patient education and consensus guidelines are needed for the surveillance and management of TARTs in males with classic CAH. [ABSTRACT FROM AUTHOR]

The QUAlity of Life Assessment in Spina bifida (QUALAS) for adults (QUALAS-A) evaluates the health-related quality of life (HRQOL), reflecting the condition specificity of adults with spina bifida (SB). The study's purpose was to translate and cross-culturally adapt the QUALAS-A into Korean and validate a Korean-modified version of the QUALAS for Young Adults (QUALAS-YA-Km). Face and content validity were evaluated in the pilot study. Internal consistency and test-retest reliability were confirmed in the main study. Factor analysis was performed, and convergent and divergent validity was verified using the World Health Organization Quality of Life assessment instrument abbreviated version (WHOQOL-BREF). Forty-seven adults had myelomeningocele. Five items with low communality were deleted through the factor analysis, and the domains were renamed. The QUALAS-YA-Km showed good internal consistency (Cronbach's alpha 0.73–0.83) and excellent test-retest reliability (intraclass correlation coefficient 0.84–0.89). The QUALAS-YA-Km showed good convergent and divergent validity, with weak to strong correlations with the WHOQOL-BREF. Developed with consideration of Korea's cultural characteristics, the QUALAS-YA-Km is a convenient and reliable instrument, with good internal consistency, stability, and construct validity. This can be a useful tool in clinical and research settings for HRQOL optimization in young adults with SB. Optimizing health-related quality of life (HRQOL) is one of the goals of people with spina bifida (SB), which requires HRQOL measurements that reflect the condition specificity of SB The QUAlity of Life Assessment of Spina bifida for Adults (QUALAS-A) is a self-reported HRQOL questionnaire for adults with SB developed in the United States, which is used in research and clinical practice The present study revealed that the Korean modified version of the QUAlity of Life Assessment of Spina bifida for Young Adults (QUALAS-YA-Km), developed in consideration of the cultural characteristics of Korea, is a valid, convenient, and reliable tool The QUALAS-YA-Km, is a useful tool that can be used in clinical and research settings for HRQOL optimization in adults with SB [ABSTRACT FROM AUTHOR]

PURPOSE: This study aimed to analyze organ system-based causes and non-organ system-based mechanisms of death (COD, MOD) in people with myelomeningocele (MMC), comparing urological to other COD. METHODS: A retrospective review was performed of 16 institutions in Canada/United States of non-random convenience sample of people with MMC (born > = 1972) using non-parametric statistics. RESULTS: Of 293 deaths (89% shunted hydrocephalus), 12% occurred in infancy, 35% in childhood, and 53% in adulthood (documented COD: 74%). For 261 shunted individuals, leading COD were neurological (21%) and pulmonary (17%), and leading MOD were infections (34%, including shunt infections: 4%) and non-infectious shunt malfunctions (14%). For 32 unshunted individuals, leading COD were pulmonary (34%) and cardiovascular (13%), and leading MOD were infections (38%) and non-infectious pulmonary (16%). COD and MOD varied by shunt status and age (p < = 0.04), not ambulation or birthyear (p > = 0.16). Urology-related deaths (urosepsis, renal failure, hematuria, bladder perforation/cancer: 10%) were more likely in females (p = 0.01), independent of age, shunt, or ambulatory status (p > = 0.40). COD/MOD were independent of bladder augmentation (p = >0.11). Unexplained deaths while asleep (4%) were independent of age, shunt status, and epilepsy (p >= 0.47). CONCLUSION: COD varied by shunt status. Leading MOD were infectious. Urology-related deaths (10%) were independent of shunt status; 26% of COD were unknown. Life-long multidisciplinary care and accurate mortality documentation are needed. [ABSTRACT FROM AUTHOR]

Probiotic bacteria are a recognized alternative to classical methods of disease prophylaxis and therapy. We tested the effects of their application on the immune reaction in juvenile turbot. To prevent digestion of the probiotics, rectal administration was applied to maximise colonization, by-passing digestion in the stomach. The application of Psychrobacter nivimaris and Psychrobacter faecalis showed beneficial effects on the inflammatory response and disease resistance after infection with the common pathogen Tenacibaculum maritimum. Treatment with P. nivimaris and P. faecalis resulted in 0% and 8% mortalities post-infection, while in the treatment control, an elevated mortality of 20% was observed. In the challenge controls (no infection), no mortalities were observed during the entire experimental period. After an experimental infection, mRNA expression of selected immune markers (mhc II α, il-1β, tcr, tgf β and tnf α) were determined by RT-QPCR at 0, 1 and 5 days post-infection (dpi). At 0 dpi, gene expression was comparable between the treatments and the treatment control, suggesting that probiotics did not act via immune stimulation of the host. At 1 dpi, all genes were up-regulated in the treatment control but not in the probiotic groups, indicating that the infection in probiotic-treated fish developed at a less severe level. At 5 dpi, mRNA expression returned to baseline levels. As a conclusion, the native probiotic candidates P. nivimaris and P. faecalis improved survival, whereas, in the control, mortality increased and expression of the immune markers was up-regulated post infection. This highlights a potential application of P. nivimaris and P. faecalis in disease prophylaxis, but further research is needed. [ABSTRACT FROM AUTHOR]

Robotic-assisted pyeloplasty (RAP) is a mainstay in the treatment of ureteropelvic junction obstruction (UPJO) in children. At our institution, to limit planned operating rooms visits we have placed a ureteral stent with an external string (SWES) immediately prior to RAP. In this study, we sought to quantify the operative time, complications, and costs associated with this approach compared to the traditional approach, requiring subsequent stent removal in the operating room. We hypothesized the SWES cohort would have decreased cost, yet with similar operative time and complications. We retrospectively collected all RAPs performed at our institution using the SWES approach (Aug 2012–July 2017). We excluded those with a redo pyeloplasty, and/or a percutaneous nephrostomy tube for post-operative drainage. We collected 30-day costs linked to the patients' MRN using the Pediatric Health Information System (PHIS) database. We compared 30-day healthare costs for all patients following RAP. We compared our SWES group to a national cohort of all pediatric RAP during the same time period. Lastly, we sent an anonymous, electronic survey to urologists of all PHIS institutions to identify the predominant postoperative drainage, nationally. Within our institution, we reviewed all those treated with SWES (n = 85) (Table 1). The median 30-day cost was $10,548 among those with SWES (Table 2). This was significantly less than the overall, national cohort of all pediatric RAP during the same period ($14,119, p < 0.001). There was a 15.5 % rate of unplanned return to the hospital in the SWES group. Of those unplanned returns, 8.2 % (7/85) had unplanned return for a procedure (3 for unplanned stent removal, 2 for nephrostomy tube for persistent obstruction, 1 for omental hernia, and 1 for stent replacement). With a 42.5 % (37/87) response rate, our nationwide survey found 84.6 % primarily leave stents WITHOUT a string, 7.7 % left nephrostomy tubes, and 7.7 % stents with strings. During pediatric RAP, placement of a SWES takes little time, carries a risk of unplanned visit to the operating room, saves the patient a certain, second anesthetic for stent removal, and amounts to a cost savings of approximately 25 %. [ABSTRACT FROM AUTHOR]

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. TDP-43 triggers mitochondrial DNA release via mPTP to activate cGAS/STING in ALS. TDP-43 regulates the alternative splicing of hnRNP A1 to yield an aggregation-prone variant in amyotrophic lateral sclerosis. [Extracted from the article]

New energy storage technologies that can serve as a reliable alternative to lithium-ion batteries are in the spotlight. Particular attention has been recently devoted to magnesium-ion systems due to the considerable abundance of this element and also due to its promising electro-chemical performance. Our results show that monolayer black phosphorene doped by B, Sc, Co, and Cu atoms possesses good structural stability with the minimal cohesive energy of - 5.563 eV/atom, the adsorption energy per Mg atom ranging from - 1.229 to - 1.357 eV, and the charge transfer from double-side adsorbed single Mg-ions to the B-substituted phosphorene increased by ∼ 0.21 e - in comparison with pristine phosphorene. The present work demonstrates a potential path for future improvements of phosphorus-based anode materials for Mg-ion rechargeable batteries which were evaluated using first-principles density-functional theory calculations. [ABSTRACT FROM AUTHOR]

Background: We previously developed the Japanese version of The Quality of Life Assessment of Spina Bifida in Teenagers, a health‐related quality‐of‐life instrument specific to children aged 13–17 years with spina bifida (SB). The Quality of Life Assessment of Spina Bifida in Children is a version of this questionnaire for children aged 8–12 years. The purpose of this study was to develop a Japanese version of the Quality of Life Assessment of Spina Bifida in Children (QUALAS‐C‐J) and verify its reliability and validity. Methods: Three urologists specializing in SB, 2 nurses, and 1 statistician developed the QUALAS‐C‐J and conducted a pilot and main survey. Participants included children with SB and non‐disabled (ND) children. Participants completed the QUALAS‐C‐J and the Japanese version of KIDSCREEN‐27 (J‐KIDSCREEN) without parental help. Results: Five children with SB participated in the pilot study and provided face and content validity. Sixty‐three children with SB and 40 age‐ and sex‐matched ND children participated in the main survey. The intraclass correlation coefficient in the retest was 0.80, and Cronbach's alpha in each domain was 0.73. The validity was verified by factor analysis, convergent / divergent validity, and known‐groups validity. Factor analysis converged to the same two‐factor structure as the original version. The correlation between QUALAS‐C‐J and J‐KIDSCREEN‐27 was weak (r=−0.06‐0.30). The scores of both groups for the two domains of the QUALAS‐C‐J were significantly lower in SB than ND children. Conclusions: QUALAS‐C‐J is easy to answer, suitable for Japanese children with SB, reliable, and valid. It can be a communication tool for children with SB, medical staff, families, communities, and school teachers. [ABSTRACT FROM AUTHOR]

Understanding non-motor symptoms of Parkinson's disease is important in order to unravel the underlying molecular mechanisms of the disease. Olfactory dysfunction is an early stage, non-motor symptom which occurs in 95% of Parkinson's disease patients. Mitochondrial dysfunction is a key feature in Parkinson's disease and importantly contributes to the selective loss of dopaminergic neurons the substantia nigra pars compacta. The olfactory bulb, the first olfactory processing station, also contains dopaminergic neurons, which modulate odor information and thereby enable odor detection as well as odor discrimination. MitoPark mice are a genetic model for Parkinson's disease with severe mitochondrial dysfunction, reproducing the differential vulnerability of dopaminergic neurons in the midbrain. These animals were used to investigate the impact of mitochondrial dysfunction on olfactory-related behavior and olfactory bulb dopaminergic neuron survival. Odor detection was severely impaired in MitoPark mice. Interestingly, only the small anaxonic dopaminergic subpopulation, which is continuously replenished by neurogenesis, was moderately reduced in number, much less compared with dopaminergic neurons in the midbrain. As a potential compensatory response, an enhanced mobilization of progenitor cells was found in the subventricular zone. These results reveal a high robustness of dopaminergic neurons located in the olfactory bulb towards mitochondrial impairment, in striking contrast to their midbrain counterparts. [ABSTRACT FROM AUTHOR]

Mitochondrial dysfunction is critically involved in Parkinson's disease, characterized by loss of dopaminergic neurons (DaNs) in the substantia nigra (SNc), whereas DaNs in the neighboring ventral tegmental area (VTA) are much less affected. In contrast to VTA, SNc DaNs engage calcium channels to generate action potentials, which lead to oxidant stress by yet unknown pathways. To determine the molecular mechanisms linking calcium load with selective cell death in the presence of mitochondrial deficiency, we analyzed the mitochondrial redox state and the mitochondrial membrane potential in mice of both sexes with genetically induced, severe mitochondrial dysfunction in DaNs (MitoPark mice), at the same time expressing a redox-sensitive GFP targeted to the mitochondrial matrix. Despite mitochondrial insufficiency in all DaNs, exclusively SNc neurons showed an oxidized redox-system, i.e., a low reduced/oxidized glutathione (GSH-GSSG) ratio. This was mimicked by cyanide, but not by rotenone or antimycin A, making the involvement of reactive oxygen species rather unlikely. Surprisingly, a high mitochondrial inner membrane potential was maintained in MitoPark SNc DaNs. Antagonizing calcium influx into the cell and into mitochondria, respectively, rescued the disturbed redox ratio and induced further hyperpolarization of the inner mitochondrial membrane. Our data therefore show that the constant calcium load in SNc DaNs is counterbalanced by a high mitochondrial inner membrane potential, even under conditions of severe mitochondrial dysfunction, but triggers a detrimental imbalance in the mitochondrial redox system, which will lead to neuron death. Our findings thus reveal a new mechanism, redox imbalance, which underlies the differential vulnerability of DaNs to mitochondrial defects. [ABSTRACT FROM AUTHOR]

Individuals with autism spectrum disorder (ASD) have social interaction deficits and difficulty filtering information. Inhibitory interneurons filter information at pyramidal neurons of the anterior cingulate cortex (ACC), an integration hub for higher-order thalamic inputs important for social interaction. Humans with deletions including LMO4, an endogenous inhibitor of PTP1B, display intellectual disabilities and occasionally autism. PV-Lmo4KO mice ablate Lmo4 in PV interneurons and display ASD-like repetitive behaviors and social interaction deficits. Surprisingly, increased PV neuron-mediated peri-somatic feedforward inhibition to the pyramidal neurons causes a compensatory reduction in (somatostatin neuron-mediated) dendritic inhibition. These homeostatic changes increase filtering of mediodorsal-thalamocortical inputs but reduce filtering of cortico-cortical inputs and narrow the range of stimuli ACC pyramidal neurons can distinguish. Simultaneous ablation of PTP1B in PV-Lmo4KO neurons prevents these deficits, indicating that PTP1B activation in PV interneurons contributes to ASD-like characteristics and homeostatic maladaptation of inhibitory circuits may contribute to deficient information filtering in ASD. LMO4 has been linked genetically to autism spectrum disorder and intellectual disability. Here, the authors investigate a role of LMO4 in parvalbumin neurons and, specifically, the regulation of dorsal ACC inhibitory circuits. [ABSTRACT FROM AUTHOR]

Alzheimer's disease (AD) is the most common neurodegenerative disorder, resulting in the progressive decline of cognitive function in patients. Familial forms of AD are tied to mutations in the amyloid precursor protein, but the cellular mechanisms that cause AD remain unclear. Inflammation and amyloidosis from amyloid β (Aβ) aggregates are implicated in neuron loss and cognitive decline. Inflammation activates the protein-tyrosine phosphatase IB (PTP1B), and this could suppress many signaling pathways that activate glycogen synthase kinase 3β (GSK3β) implicated in neurodegeneration. However, the significance of PTP1B in AD pathology remains unclear. Here, we show that pharmacological inhibition of PTP1B with trodusquemine or selective ablation of PTP1B in neurons prevents hippocampal neuron loss and spatial memory deficits in a transgenic AD mouse model with Aβ pathology (hAPP-J20 mice of both sexes). Intriguingly, while systemic inhibition of PTP1B reduced inflammation in the hippocampus, neuronal PTP1B ablation did not. These results dissociate inflammation from neuronal loss and cognitive decline and demonstrate that neuronal PTP1B hastens neurodegeneration and cognitive decline in this model of AD. The protective effect of PTP1B inhibition or ablation coincides with the restoration of GSK3 β inhibition. Neuronal ablation of PTP IB did not affect cerebral amyloid levels or plaque numbers, but reduced Aβ plaque size in the hippocampus. In summary, our preclinical study suggests that targeting PTP 1B may be a new strategy to intervene in the progression of AD. [ABSTRACT FROM AUTHOR]

Background: Spina bifida (SB) is the second‐most common birth defect in Japan. In recent years, health‐related quality of life measurements have been used to assess the psychosocial status of children with SB. The Quality of Life Assessment of Spina Bifida in Teenagers (QUALAS‐T) is a self‐reported questionnaire for subjects aged 13–17 years with SB. It focuses particularly on factors related to independence, bladder and bowel. The purpose of this study was to develop and validate a Japanese version of QUALAS‐T (QUALAS‐T‐J). Methods: Three urologists specialized in SB, two nurses, one statistician, and the author of the original version developed the QUALAS‐T‐J. Subjects with SB completed the QUALAS‐T‐J and the Japanese version of KIDSCREEN‐27 (J‐KIDSCREEN‐27) independently from their parents. Results: A pilot study involving seven adolescents with SB and confirmed face and content validity. Sixty‐nine adolescents with SB participated in the main survey. The intraclass correlation coefficient in the retest was 0.77, and Cronbach's alpha in each domain was 0.83 and 0.79. Validity was verified on factor analysis and convergent/divergent validity. Five items converged in the one domain, Bladder and Bowel. The remaining five items converged in the concept of Family and Independence. The correlation between each domain of the QUALAS‐T‐J and J‐KIDSCREEN‐27 was low–moderate. Conclusion: The reliability and validity of the QUALAS‐T‐J were verified in Japanese adolescents with SB. The QUALAS‐T‐J would be a useful tool for communication between adolescents with SB and medical staff. [ABSTRACT FROM AUTHOR]

Subglottic stenosis (SGS) is a challenging disease to diagnose in neonates. Long-range optical coherence tomography (OCT) is an optical imaging modality that has been described to image the subglottis in intubated neonates. A major challenge associated with OCT imaging is the lack of an automated method for image analysis and micrometry of large volumes of data that are acquired with each airway scan (1 to 2 Gb). We developed a tissue segmentation algorithm that identifies, measures, and conducts image analysis on tissue layers within the mucosa and submucosa and compared these automated tissue measurements with manual tracings. We noted small but statistically significant differences in thickness measurements of the mucosa and submucosa layers in the larynx (p < 0.001), subglottis (p = 0.015), and trachea (p =0.012). The automated algorithm was also shown to be over 8 times faster than the manual approach. Moderate Pearson correlations were found between different tissue texture parameters and the patient's gestational age at birth, age in days, duration of intubation, and differences with age (mean age 17 days). Automated OCT data analysis is necessary in the diagnosis and monitoring of SGS, as it can provide vital information about the airway in real time and aid clinicians in making management decisions for intubated neonates. [ABSTRACT FROM AUTHOR]

In today's aquaculture, the cost‐intensive and scarce fishmeal is increasingly replaced by plant‐based feedstuff such as soybean meal (SBM). However, SBM contains saponins which can have adverse effects on fish's digestive tract potentially culminating in severe enteritis. In a 60 day feeding trial we studied the use of autochthonous bacteria as probiotics upon SBM supplementation on juvenile turbot. Growth performance, feed conversion, body composition and health status were assessed for five different treatment groups, comprising a fishmeal control (FM ctrl), a SBM control without probiotics (SBM ctrl) and three multi‐species probiotic treatments. For the production of the probiotic treatments a basal diet with a composition identical to the SBM ctrl including 40% SBM of total dry matter likewise was prepared. The basal diet was stepwise top coated with three different probiotic supplementations: (a) three distinct isolates with saponin‐metabolizing ability (SBM + degrad); (b) three distinct isolates inhibitory towards the pathogen, Tenacibaculum maritimum (SBM + anta); and (c) a commercial probiotic application (SBM + com). Individual weight gain was highest in FM ctrl but only SBM + degrad diet showed a significantly lower value (p < 0.05). The feed conversion ratio was lowest in FM ctrl and significantly higher in SBM + degrad (p < 0.01). The protein retention efficiency did only differ significantly between FM ctrl and SBM + degrad (p < 0.05), whereas lipid retention efficiency remained unaffected. Whole body composition and gross energy content were similar in all treatments lacking significant differences. The condition factor was significantly elevated in SBM + degrad compared to FM ctrl (p < 0.05). Hematocrit was highest in FM ctrl and significantly lower in the other treatments (p < 0.01) with SBM + com accounting for the lowest value (p < 0.001). The hepatosomatic index was slightly increased in FM ctrl but no significant difference was detected. Regarding the spleen somatic index SBM + anta treatment revealed the highest and SBM ctrl a significantly lower value (p < 0.05). In conclusion, the growth performance of fish did not benefit from the different probiotic treatments, while body composition and gross energy content remained at an appropriate level. Moreover, the overall health status was on a sufficient level in all treatments which confirms the high dietary tolerability of our putative probiotic isolates by the fish. [ABSTRACT FROM AUTHOR]

Background: Spina bifida (SB) patients are at increased risk for hydronephrosis, bladder storage and emptying problems, and renal failure that may require multiple bladder surgeries. Methods: We retrospectively reviewed patients born with SB 2005–2009, presenting to our institution within 1 year of birth. Outcomes at 8–11 years old included final renal/bladder ultrasound (RBUS) results, clean intermittent catheterization (CIC) use, anticholinergic use, surgical interventions, and final renal function. We excluded those without follow-up past age 8 and/or no RBUS or fluoroscopic urodynamic images (FUI) within the first year of life. Imaging was independently reviewed by four pediatric urologists blinded to radiologists' interpretation and initial findings compared with final outcomes. Results: Of 98 children, 62 met inclusion criteria (48% male, 76% shunted). Median age at last follow-up was 9.6 years. Upon initial imaging, 74% had hydronephrosis (≥ SFU grade 1), decreasing to 5% at 10 years (p < 0.0001). Initially, 9% had ≥ SFU grade 3 hydronephrosis, decreasing to 2% (p = 0.13). CIC and anticholinergic use increased from 61% and 37% to 87% and 86%, respectively (p = 0.001 and p < 0.0001, respectively). With follow-up, 55% had surgical intervention and 23% had an augmentation. Of children with a serum creatinine/cystatin-C at 8–11 years old, one had confirmed chronic kidney disease (stage 2). Conclusions: Despite initial high incidence of hydronephrosis, this was low grade and resolved in the first decade of life. Additionally, the 8–11-year incidence of kidney disease and upper tract changes was low due to aggressive medical management. [ABSTRACT FROM AUTHOR]

Frontotemporal dementia (FTD) encompasses a collection of clinically and pathologically diverse neurological disorders. Clinical features of behavioural and language dysfunction are associated with neurodegeneration, predominantly of frontal and temporal cortices. Over the past decade, there have been significant advances in the understanding of the genetic aetiology and neuropathology of FTD which have led to the creation of various disease models to investigate the molecular pathways that contribute to disease pathogenesis. The generation of in vivo models of FTD involves either targeting genes with known disease‐causative mutations such as GRN and C9orf72 or genes encoding proteins that form the inclusions that characterize the disease pathologically, such as TDP‐43 and FUS. This review provides a comprehensive summary of the different in vivo model systems used to understand pathomechanisms in FTD, with a focus on disease models which reproduce aspects of the wide‐ranging behavioural phenotypes seen in people with FTD. We discuss the emerging disease pathways that have emerged from these in vivo models and how this has shaped our understanding of disease mechanisms underpinning FTD. We also discuss the challenges of modelling the complex clinical symptoms shown by people with FTD, the confounding overlap with features of motor neuron disease, and the drive to make models more disease‐relevant. In summary, in vivo models can replicate many pathological and behavioural aspects of clinical FTD, but robust and thorough investigations utilizing shared features and variability between disease models will improve the disease‐relevance of findings and thus better inform therapeutic development. [ABSTRACT FROM AUTHOR]

PURPOSE: Sexuality has received little attention in spina bifida (SB) care. The aim of this study was to assess sexual identity and orientation in adults with SB. METHODS: An international online survey to adults with SB was administered over 10-months (recruitment: SB clinics, SB organizations via social media). Collected data included demographics, sexual identity and orientation. Non-parametric tests were used for analysis. RESULTS: Median age of 77 men and 119 women was 35 years old (52.0% shunted, 48.5% community ambulators, 42.3% outside United States). Most commonly, men identified as male (96.1%), while 1.3% each described themselves as female, transgender and other. All women reporting sexual identity identified as female (99.2%), 0.8% not providing an answer. Most men reported heterosexual orientation (89.6%), followed by gay (7.8%) and bisexual (2.6%). Most women reported heterosexual orientation (84.9%), followed by bisexual (10.4%), gay/lesbian (2.5%), asexual (0.8%) and other (1.7%). CONCLUSION: As in the general population, sexual identity typically coincides with biological gender. Sexual orientation of adults with SB mirrors the general population. Due to self-selection, these findings likely do not reflect exact prevalence in the SB population. [ABSTRACT FROM AUTHOR]

Many viruses significantly impact human and animal health. Understanding the population dynamics of these viruses and their hosts can provide important insights for epidemiology and virus evolution. Puumala virus (PUUV) is a European hantavirus that may cause regional outbreaks of hemorrhagic fever with renal syndrome in humans. Here, we analyzed the spatiotemporal dynamics of PUUV circulating in local populations of its rodent reservoir host, the bank vole (Myodes glareolus) during eight years. Phylogenetic and population genetic analyses of all three genome segments of PUUV showed strong geographical structuring at a very local scale. There was a high temporal turnover of virus strains in the local bank vole populations, but several virus strains persisted through multiple years. Phylodynamic analyses showed no significant changes in the local effective population sizes of PUUV, although vole numbers and virus prevalence fluctuated widely. Microsatellite data demonstrated also a temporally persisting subdivision between local vole populations, but these groups did not correspond to the subdivision in the virus strains. We conclude that restricted transmission between vole populations and genetic drift play important roles in shaping the genetic structure and temporal dynamics of PUUV in its natural host which has several implications for zoonotic risks of the human population. [ABSTRACT FROM AUTHOR]