bluuebunny/crossref_metadata_2025_split huggingface dataset:
Role of intraoperative feeding jejunostomy in esophageal cancer surgery
Authors: Kim Min Soo , Shin Sumin , Kim Hong Kwan , Choi Yong Soo , Zo Jae Il , Shim Young Mog , Cho Jong Ho 
Published: August 2022

Abstract
Background
Feeding jejunostomy was routinely placed during esophagectomy to ensure postoperative enteral feeding. Improved anastomosis technique and early oral feeding strategy after esophagectomy has led to question the need for the routine placement of feeding jejunostomy. The aim of this study is to evaluate role of feeding jejunostomy during Ivor Lewis operation.

Methods
We retrospectively reviewed 414 patients who underwent the Ivor Lewis operations from January 2015 to December 2018.

Results
61 patients (14.7%) received jejunostomy insertion. The most common indication for jejunostomy was neoadjuvant concurrent chemoradiation therapy (CCRT). 48 patients (79%) had jejunostomy removed within 60 days after the surgery and the longest duration of jejunostomy inserted state was 121 days. About two-third of the patients with jejunostomy had never prescribed with an enteral feeding product. Among 353 patients without intraoperative feeding jejunostomy, 11(3.1%) received delayed jejunostomy insertion. Graft-related problems (6 patients), cancer progression (3 patients), acute lung injury (1 patient), and swallowing difficulty (1 patient) were reasons for delayed feeding jejunostomy insertion. Complication rate was relatively high as 24 patients (33.3%) out of 72 patients with jejunostomy insertion had complications and 7 patients (9.7%) visited ER more than twice with jejunostomy-related complications.

Conclusion
Only 3.6% patients who underwent the Ivor Lewis operation during 4-year span had anastomosis leakage. Although one-third of the patients with jejunostomy were benefited with alternative method of feeding after discharge, high complication rate regarding jejunostomy should be also considered. We believe feeding jejunostomy should not be applied routinely with prophylactic measures and should be reserved to very carefully selected patients with multiple high-risk factors.
Institutional case volume and mortality after aortic and mitral valve replacement: a nationwide study in two Korean cohorts
Authors: Nam Karam , Jang Eun Jin , Jo Jun Woo , You Jiwon , Park Jung-Bin , Ryu Ho Geol 
Published: August 2022

Abstract
Background
There are only a handful of published studies regarding the volume-outcome relationship in heart valve surgery. We evaluated the association between institutional case volume and mortality after aortic valve replacement (AVR) and mitral valve replacement (MVR).

Methods
Two separate cohorts of all adults who underwent AVR or MVR, respectively, between 2009 and 2016 were analyzed using a Korean healthcare insurance database. Hospitals performing AVRs were divided into three groups according to the average annual case volume: the low- (< 20 cases/year), medium- (20–70 cases/year), and high-volume centers (> 70 cases/year). Hospitals performing MVRs were also grouped as the low- (< 15 cases/year), medium- (15–40 cases/year), or high-volume centers (> 40 cases/year). In-hospital mortality after AVR or MVR were compared among the groups.

Results
In total, 7875 AVR and 5084 MVR cases were analyzed. In-hospital mortality after AVR was 8.3% (192/2318), 4.0% (84/2102), and 2.6% (90/3455) in the low-, medium-, and high-volume centers, respectively. The adjusted risk was higher in the low- (OR 2.31, 95% CI 1.73–3.09) and medium-volume centers (OR 1.53, 95% CI 1.09–2.15) compared to the high-volume centers. In-hospital mortality after MVR was 9.3% (155/1663), 6.3% (94/1501), and 2.9% (56/1920) in the low-, medium-, and high-volume centers, respectively. Compared to the high-volume centers, the medium- (OR 1.97, 95% CI 1.35–2.88) and low-volume centers (OR 2.29, 95% CI 1.60–3.27) showed higher adjusted risk of in-hospital mortality.

Conclusions
Lower case volume is associated with increased in-hospital mortality after AVR and MVR. The results warrant a comprehensive discussion regarding regionalization/centralization of cardiac valve replacements to optimize patient outcomes.
Successful removal of the largest reported intrathoracic lipoma with bilateral extension: a case report
Authors: Rahman S. M. Tajdit , Islam Md. Faizul , Rasha S. M. Zakirullah , Rahim Abdur , Elora Tania Binte Ghani , Razzaque A. K. M. 
Published: August 2022

AbstractBackgroundUnlike subcutaneous lipomas, thoracic cavity lipomas are extremely rare and can develop to be quite large without causing any symptoms. However, managing massive lipoma that involves both chest cavities is usually challenging, especially when considering the approach for excision.CaseWe report our experience of surgical management of a case of a 46-year-old male with huge intrathoracic lipoma that extends bilaterally and is known to be the largest of such kind. The tumor was resected successfully using median sternotomy. Histological analysis confirmed features of lipoma.ConclusionTo remove a bilateral intrathoracic lipoma, various surgical approaches have been documented. In our experience, a median sternotomy allows better exposure, which aids in complete surgical extirpation resulting in the prevention of recurrence.
Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method
Authors: Friedlander Lisa , Vincent Marc , Berdal Ariane , Cormier-Daire Valérie , Lyonnet Stanislas , Garcelon Nicolas 
Published: August 2022

Abstract
Background
Around 8000 rare diseases are currently defined. In the context of individual vulnerability and more specifically the one induced by rare diseases, ensuring oral health is a particularly important issue. The objective of the study is to evaluate the pattern of oral health care course for patients with any rare genetic disease. Description of oral phenotypic signs—which predict a theoretical dental health care course—and effective orientation into an oral healthcare were evaluated.

Materials and methods
We set up a retrospective cohort study to describe the consideration of patient oral health and potential orientation to an oral health care course who have at least been seen once between 1 January 2017 and 1 January 2020 in Necker Enfants Malades Hospital. We recruited patients from this study using the data warehouse, Dr Warehouse® (DrWH), from Necker-Enfants Malades Hospital.

Results
The study sample included 39 rare diseases, 2712 patients, with 54.7% girls and 45.3% boys. In the sample studied, 27.9% of patients had an acquisition delay or a pervasive developmental disorder. Among the patient files studied, oral and dental phenotypic signs were described for 18.40% of the patients, and an orientation in an oral healthcare was made in 15.60% of patients. The overall "network" effect was significantly associated with description of phenotypic signs (corrected p = 1.44e−77) and orientation to an oral healthcare (corrected p = 23.58e−44). Taking the Defiscience network (rare diseases of cerebral development and intellectual disability) as a reference for the odd ratio analysis, OSCAR, TETECOU, FILNEMUS, FIMARAD, MHEMO networks stand out from the other networks for their significantly higher consideration of oral phenotypic signs and orientation in an oral healthcare.

Conclusion
To our knowledge, no study has explored the management of oral health in so many rare diseases. The expected benefits of this study are, among others, a better understanding, and a better knowledge of the oral care, or at least of the consideration of oral care, in patients with rare diseases. Moreover, with the will to improve the knowledge on genetic diseases, oral heath must have a major place in the deep patient phenotyping. Therefore, interdisciplinary consultations with health professionals from different fields are crucial.
Incidence of Leber hereditary optic neuropathy in 2019 in Japan: a second nationwide questionnaire survey
Authors: Takano Fumio , Ueda Kaori , Godefrooij Daniel A. , Yamagami Akiko , Ishikawa Hiroto , Chuman Hideki , Ishikawa Hitoshi , Ikeda Yasuhiro , Sakamoto Taiji , Nakamura Makoto 
Published: August 2022

Abstract
Background
Leber hereditary optic neuropathy (LHON) is an acute or subacute optic neuropathy that mainly affects young males. The first nationwide epidemiological survey of LHON was conducted in 2014 in Japan, and LHON was officially designated as a rare intractable disease by the Japanese government in 2015. We conducted a second survey of the annual incidence of LHON in 2019, and estimated the total number of patients with LHON in Japan.

Results
A questionnaire was sent to 997 facilities accredited by the Japanese Ophthalmological Society and/or affiliated with the councilors of the Japanese Neuro-Ophthalmology Society. Responses were received from 791 facilities, with a response rate of 79%. Fifty-five newly diagnosed cases (49 males and 6 females) of LHON were reported from 35 institutions in 2019, with a median age of 28.5 for males and 49.5 years for females. The total number of newly diagnosed cases was calculated as 69 (62 were males and 7 were females, 95% confidence interval 55–83), and the total number of patients was estimated to be 2491 (95% confidence interval: 1996–2986), suggesting a prevalence of LHON in Japan of 1:50,000.

Conclusion
The incidence of LHON in 2019 was lower than the estimate in 2014, whereas its prevalence may be similar to that reported in other countries. The accurate estimation of the incidence and prevalence of patients with LHON requires prospective registration.
Optimising care and follow-up of adults with achondroplasia
Authors: Fredwall Svein , Allum Yana , AlSayed Moeenaldeen , Alves Inês , Ben-Omran Tawfeg , Boero Silvio , Cormier-Daire Valerie , Guillen-Navarro Encarna , Irving Melita , Lampe Christian , Maghnie Mohamad , Mohnike Klaus , Mortier Geert , Sousa Sérgio B. , Wright Michael 
Published: August 2022

Abstract
Background
Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lacking, and little is known about the care they receive or how they access it. The European Achondroplasia Forum undertook two exploratory surveys, one for healthcare professionals (HCPs) and one for patient advocacy group (PAG) representatives, to gain an understanding of current practices of the transition process of individuals with achondroplasia from paediatric to adult services and how adults perceive their care.

Results
Most HCP respondents followed up more children than adults, and 8/15 responded that individuals did not transition to an adult multidisciplinary team (MDT) after paediatric care. Of 10 PAG respondents, none considered the experience of transition to adult services as good or very good and 50% considered it to be poor or very poor. A total of 64% (7/11) described the coordination of transition to adult services as “Not satisfactory” or “Poor”. HCPs and PAG representatives largely agreed on the core specialists involved in adult care (orthopaedic surgeons, physiotherapists, rehabilitation specialists, rheumatologists, clinical geneticists). However, there was a discrepancy in the understanding of healthcare needs outside of this, with PAG representatives selecting neurosurgeons and genetic counsellors, while HCPs selected pulmonologists and obstetricians/gynaecologists. There was agreement between HCP and PAG respondents on the key barriers to effective care of adults with achondroplasia, with lack of an adult MDT, lack of interest from individuals in accessing care, and less experience in adult than paediatric MDTs ranking highly.

Conclusions
This study indicates that the care and follow up of adults with achondroplasia is challenging. Individuals are often lost to, or decline, follow up as they leave paediatric care, and it is largely unknown how, where, and why adults with achondroplasia access care later in life. Lifelong, multidisciplinary specialist care led by an identified physician should be accessible to all individuals with achondroplasia. It is important to ensure barriers to optimal care are addressed to enable access to appropriate care for all individuals with achondroplasia.
Farnesyltransferase inhibitor LNK-754 attenuates axonal dystrophy and reduces amyloid pathology in mice
Authors: Cuddy Leah K. , Alia Alia O. , Salvo Miranda A. , Chandra Sidhanth , Grammatopoulos Tom N. , Justman Craig J. , Lansbury Peter T. , Mazzulli Joseph R. , Vassar Robert 
Published: August 2022

AbstractBackgroundAmyloid plaque deposition and axonal degeneration are early events in AD pathogenesis. Aβ disrupts microtubules in presynaptic dystrophic neurites, resulting in the accumulation of impaired endolysosomal and autophagic organelles transporting β-site amyloid precursor protein cleaving enzyme (BACE1). Consequently, dystrophic neurites generate Aβ42 and significantly contribute to plaque deposition. Farnesyltransferase inhibitors (FTIs) have recently been investigated for repositioning toward the treatment of neurodegenerative disorders and block the action of farnesyltransferase (FTase) to catalyze farnesylation, a post-translational modification that regulates proteins involved in lysosome function and microtubule stability. In postmortem AD brains, FTase and its downstream signaling are upregulated. However, the impact of FTIs on amyloid pathology and dystrophic neurites is unknown.MethodsWe tested the effects of the FTIs LNK-754 and lonafarnib in the 5XFAD mouse model of amyloid pathology.ResultsIn 2-month-old 5XFAD mice treated chronically for 3 months, LNK-754 reduced amyloid plaque burden, tau hyperphosphorylation, and attenuated the accumulation of BACE1 and LAMP1 in dystrophic neurites. In 5-month-old 5XFAD mice treated acutely for 3 weeks, LNK-754 reduced dystrophic neurite size and LysoTracker-Green accumulation in the absence of effects on Aβ deposits. Acute treatment with LNK-754 improved memory and learning deficits in hAPP/PS1 amyloid mice. In contrast to LNK-754, lonafarnib treatment was less effective at reducing plaques, tau hyperphosphorylation and dystrophic neurites, which could have resulted from reduced potency against FTase compared to LNK-754. We investigated the effects of FTIs on axonal trafficking of endolysosomal organelles and found that lonafarnib and LNK-754 enhanced retrograde axonal transport in primary neurons, indicating FTIs could support the maturation of axonal late endosomes into lysosomes. Furthermore, FTI treatment increased levels of LAMP1 in mouse primary neurons and in the brains of 5XFAD mice, demonstrating that FTIs stimulated the biogenesis of endolysosomal organelles.ConclusionsWe show new data to suggest that LNK-754 promoted the axonal trafficking and function of endolysosomal compartments, which we hypothesize decreased axonal dystrophy, reduced BACE1 accumulation and inhibited amyloid deposition in 5XFAD mice. Our results agree with previous work identifying FTase as a therapeutic target for treating proteinopathies and could have important therapeutic implications in treating AD.
Lidocaine spray 10% prior to intravenous catheterisation in dogs
Authors: Hoeberg Emma , Loken Kolstad Tonje , Moller Liisa Martine , Rosvold Silje Kristine , Heggernes Softeland Maren , Haga Henning Andreas , Lervik Andreas 
Published: August 2022

AbstractA common and to some degree painful procedure in veterinary practice is to insert an intra-venous catheter. In both human and veterinary medicine, a topical mixture of lidocaine and prilocaine (EMLA cream) has shown to reduce the pain, however a period of 60 min between application and initiation of the procedure is recommended. This time lapse is not always suitable for clinical practise and a shorter time before anaesthetic effect is therefore desirable. Lidocaine has a shorter time lapse (1–3 min) when used on mucus membrane; however, the effect of lidocaine for desensitization of skin has shown variable results in humans. The aim of the study was to evaluate the effect of topical lidocaine spray 10% on the response to placement of venous catheters in dogs. Topical lidocaine spray 10% or NaCl 0.9% was administered prior to placing an intravenous catheter in the cephalic vein. A cross-over of treatment with 2 h wash out period was used before placing a catheter in the opposite cephalic vein. The procedure was video recorded and the dogs’ responses were later scored by three persons blinded to treatment using a visual analogue scale. The VAS scores were normalised and the mean difference between treatments were compared using Wilcox signed-rank test. This study could not find a statistical difference between the treatments (P = 0.1763) and could conclude that no significant difference in response to intravenous catheterisation was found between application of NaCl 0.9% or lidocaine 10% prior to the procedure.
Disclosing a diagnosis of autism spectrum disorder without intellectual disability to pediatric patients in Japan in early diagnostic stages and associated factors: a cross-sectional study
Authors: Sato Hiroyuki , Fujita Misao , Tsuchiya Atsushi , Hatta Taichi , Mori Katsumi , Nakazawa Eisuke , Takimoto Yoshiyuki , Akabayashi Akira 
Published: August 2022

Abstract
Background
With a recent increase in the prevalence of autism spectrum disorder (ASD), an important issue has emerged in clinical practice regarding when and how patients themselves should be given explanations following a diagnosis of ASD. The clinical guidelines of the UK National Institute for Health and Care Excellence state that children diagnosed with ASD should receive an explanation about what ASD is and how it affects their development and functioning—“if appropriate”. However, the guidelines do not provide any specifics regarding what constitutes “appropriate” situations

Methods
We conducted an anonymous self-administered postal questionnaire survey targeting all members of the Japanese Society for Child and Adolescent Psychiatry (n=1,995). The analysis included only physicians who had newly diagnosed pediatric patients with ASD in the past year. We imposed a limit of one year because diagnoses further back than that are difficult to recall; in other words, this would enhance the recall bias

Results
The recovery rate was 30.8%, and the rate of diagnosis disclosure to patients themselves without intellectual disability was 15.3%. We asked 361 physicians who responded that “deciding on a case-by-case basis” was the ideal way to disclose an ASD diagnosis about 20 items prioritized by physicians at the time of diagnosis disclosure and extracted three factors through exploratory factor analysis. Multiple logistic regression analysis was performed with physician attributes, awareness of ASD as a disorder or personality, and the three extracted factors as explanatory variables; diagnosis disclosure was the dependent variable. The patient age group and only one of the three factors (i.e., “factor related to readiness to accept diagnosis”) showed a significant association with disclosure of the diagnosis to the individual. Items included in the “factor related to readiness to accept diagnosis” were as follows: the degree of parental understanding, relationship of the patient with their parents/physician, agreement in opinion between parents, parental consent, “sufficient” patient understanding, symptom stabilization, and a guarantee of sufficient time required to explain the diagnosis to the patient

Conclusion
In clinical settings, disclosing an ASD diagnosis with the consideration of patient/parent readiness toward accepting the diagnosis could help to guide physicians in determining an ideal timing for disclosure. Future studies are needed to establish detailed and concrete guidelines regarding disclosure of an ASD diagnosis to patients.
The experience of bullying among adolescents receiving mental health care: an interpretative phenomenological analysis
Authors: Roques Marjorie , Spiers Solène , El Husseini Mayssa’ , Drieu Didier , Laimou Dimitra , de Kernier Nathalie , Mazoyer Anne-Valérie , Guénolé Fabian 
Published: August 2022

Abstract
Background
Bullying, the most prevalent form of abuse among adolescents, is associated with emotional and behavioural problems as well as psychiatric morbidity. Moreover, it has been shown that adolescents with previous mental health problems are at increased risk of being bullied and that the psychopathological repercussions of bullying are greatest among them. However, little is known about the experience of bullying in adolescents receiving treatment from mental health services. The aim of this study was to explore the subjective experience of bullying in adolescents receiving mental health care.

Methods
The study was developed in the context of a French multicentre research program and employed an exploratory phenomenological approach. A purposeful sampling strategy was used to select adolescents who had experienced bullying (according to the Olweus criteria) and who were able to relate their experiences clearly. In-depth, semistructured interviews with participants were conducted; written transcriptions of these interviews were analysed using thematic analysis.

Results
Twenty-one adolescents (age range: 12–17 years; 13 girls) participated in the study. The analysis indicated a three-axis structure: (1) negative emotions and violent feelings, describing adolescents’ fear, sadness, aggression against themselves, and generalized mistrust; (2) isolation and loneliness, underlining the need to take refuge within oneself and the experiences of rejection, helplessness, and secret-keeping; and (3) self and identity repercussions, including experiences of shame and lowered self-esteem, identity questions, and a vision of bullying as a life experience.

Conclusions
The results of this study may have practical implications for clinicians: (1) a situation of bullying should be sought when an adolescent is seen for unexplained externalized behavioural misconduct; (2) low levels of emotional expression in a bullied adolescent may warn about associated self-harm; (3) a bullied adolescent’s tendency to hide this situation from his or her parents may reflect underlying family-related vulnerability; and (4) the phenomenological analysis showed potential particularities in the assumptive world of these adolescents and suggested that relationality may play a crucial role in their experiences. These results suggest incentives to design specific individual and group therapeutic interventions for bullied adolescents with significant levels of social withdrawal, including family support. Additional research is necessary to improve our understanding of the psychopathological and intersubjective aspects of bullying in adolescents.