bluuebunny/crossref_metadata_2025_split huggingface dataset:
Does the “obesity paradox” exist after transcatheter aortic valve implantation?
Authors: Luo Zeng-Rong , Chen Liang-wan , Qiu Han-Fan 
Published: June 2022

AbstractBackgroundTranscatheter aortic valve implantation (TAVI) for symptomatic aortic stenosis is considered a minimally invasive procedure. Body mass index (BMI) has been rarely evaluated for pulmonary complications after TAVI. This study aimed to assess the influence of BMI on pulmonary complications and other related outcomes after TAVI.MethodsThe clinical data of 109 patients who underwent TAVI in our hospital from May 2018 to April 2021 were retrospectively analyzed. Patients were divided into three groups according to BMI: low weight (BMI < 21.9 kg/m2, n = 27), middle weight (BMI 21.9–27.0 kg/m2, n = 55), and high weight (BMI > 27.0 kg/m2, n = 27); and two groups according to vascular access: through the femoral artery (TF-TAVI, n = 94) and through the transapical route (TA-TAVI, n = 15). Procedure endpoints, procedure success, and adverse outcomes were evaluated according to the Valve Academic Research Consortium (VARC)-2 definitions.ResultsHigh-weight patients had a higher proportion of older (p < 0.001) and previous percutaneous coronary interventions (p = 0.026), a higher percentage of diabetes mellitus (p = 0.026) and frailty (p = 0.032), and lower glomerular filtration rate (p = 0.024). Procedure success was similar among the three groups. The 30-day all-cause mortality of patients with low-, middle-, and high weights was 3.7% (1/27), 5.5% (3/55), and 3.7% (1/27), respectively. In the multivariable analysis, middle- and high-weight patients exhibited similar overall mortality (middle weight vs. low weight,p = 0.500; high weight vs. low weight,p = 0.738) and similar intubation time compared with low-weight patients (9.1 ± 7.3 h vs. 8.9 ± 6.0 h vs. 8.7 ± 4.2 h in high-, middle-, and low-weight patients, respectively,p = 0.872). Although high-weight patients had a lower PaO2/FiO2ratio than low-weight patients at baseline, transitional extubation, and post extubation 12th hour (p = 0.038, 0.030, 0.043, respectively), there were no differences for post extubation 24th hour, post extubation 48th hour, and post extubation 72nd hour (p = 0.856, 0.896, 0.873, respectively). Chronic lung disease [odds ratio (OR) 8.038,p = 0.001] rather than high weight (OR 2.768,p = 0.235) or middle weight (OR 2.226,p = 0.157) affected postoperative PaO2/FiO2after TAVI.ConclusionsWe did not find the existence of an obesity paradox after TAVI. BMI had no effect on postoperative intubation time. Patients with a higher BMI should be treated similarly without the need to deliberately extend the intubation time for TAVI.
Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China
Authors: Yang-Li Dai , Fei-Hong Luo , Hui-Wen Zhang , Ming-Sheng Ma , Xiao-Ping Luo , Li Liu , Yi Wang , Qing Zhou , Yong-Hui Jiang , Chao-Chun Zou ,   PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, Xiao-Ou Shan , Yu Yang , Hui-Feng Zhang , Zhi-Liang Tian , Bo Sun , Mei Lu , Ya-Ying Cheng , Ying Yang , Xiong-Ying Yu , Jing Zhang , Xiao-Hong Chen , Fan Yang , Hong-Wei Ma , Maimaiti MireguIi , Gai-Xiu Zhang , Xiao-Hong Chen , Gui-Mie Li , Fan Tong ,   Zhejiang Expert Group for PWS, Ming-Qiang Zhi , Qiong Zhou , Yuan Gao , Kan Wang , Xiao-Ming Ying , Jian-Ping Zhang , Chun-Lin Wang , Chun-Ming Jiang , Rui Xiao 
Published: June 2022

AbstractPrader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical manifestations of PWS vary with age. It is characterized by severe hypotonia with poor suck and feeding difficulties in the early infancy, followed by overeating in late infancy or early childhood and progressive development of morbid obesity unless the diet is externally controlled. Compared to Western PWS patients, Chinese patients have a higher ratio of deletion type. Although some rare disease networks, including PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, Zhejiang Expert Group for PWS, were established recently, misdiagnosis, missed diagnosis and inappropriate intervention were usually noted in China. Therefore, there is an urgent need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy. Our purpose is to evaluate the current literature and evidences on diagnosis and management of PWS in order to provide evidence-based guidelines for this disease, specially from China.
Analysis of 55 patients with multiple endocrine neoplasia type 1-associated insulinoma from a single center in China
Authors: Zhao Yuan , Yu Jie , Liu Yiwen , Lyu Lu , Ping Fan , Xu Lingling , Li Wei , Wang Ou , Xu Qiang , Wu Wenming , Zhang Huabing , Li Yuxiu 
Published: June 2022

Abstract
Objective
To investigate the clinical characteristics of patients with multiple endocrine neoplasia type 1 (MEN1)-related insulinoma and their relationship with specific biochemical changes and to summarize the features of treatment options for the Chinese population with this disease and the impact on long-term prognosis.

Methods
“MEN1” and “insulinoma” were used when searching the Peking Union Medical College Hospital (PUMCH) medical record retrieval system to obtain clinical information about patients. We identified patients diagnosed with MEN1-associated insulinoma based on endocrinological, radiological, and pathological examinations, and subsequently analyzed their clinical data.

Results
A total of 55 patients with MEN1-associated insulinoma were included, including 29 (52.7%) men and 26 (47.3%) women. The parathyroid gland was the most commonly affected (78.2%), followed by the pituitary gland (69.1%) and adrenal gland (16.4%). Insulinoma was the first manifestation of MEN1 in at least 23.6% (13/55) of patients. Nineteen (34.5%) patients presented with initial symptoms of hypoglycemia before the age of 22 years. Among the 24 Patients with high serum calcium (Ca) had significantly lower serum insulin levels than those with normal serum Ca levels (p < 0.001) during hypoglycemic episodes. However, serum C-peptide level at 0.5 h and serum insulin level at 1 h was higher in patients with hypercalcemia than in patients with normal serum Ca levels in the oral glucose tolerance test (OGTT), although the differences were not statistically significant. Multifocal pancreatic neuroendocrine tumors (pNETs) were present in 38 (69.1%) patients; most of them (55.6%, 20/36) underwent multiple enucleations, and 45% (9/20) had a postoperative recurrence. Five patients (10%) who underwent distal pancreatectomy developed pancreatic insufficiency after an average of seven years. patients who underwent genetic testing, 23 (95.8%) were positive for MEN1 mutation, with mutations most commonly found in exons 2 (21.7%) and 3 (13%).

Conclusions
In our study, the rates of postoperative recurrence and long-term complications in patients with MEN1 with multifocal pNETs were significantly different from those in other international centers and might be related to the choice of surgical method. In addition, elevated serum Ca levels in patients with primary hyperparathyroidism may affect insulin secretion.
Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry
Authors: Rueda-Nieto Senay , Mondejar-Lopez Pedro , Mira-Escolano María-Pilar , Cutillas-Tolín Ana , Maceda-Roldán Luis Alberto , Arense-Gonzalo Julián Jesús , Palomar-Rodríguez Joaquín A. 
Published: June 2022

Abstract
Background
Cystic fibrosis (CF) has a vast and heterogeneous mutational spectrum in Europe. This variability has also been described in Spain, and there are numerous studies linking CFTR variants with the symptoms of the disease. Most of the studies analysed determinate clinical manifestations or specific sequence variants in patients from clinical units. Others used registry data without addressing the genotype–phenotype relationship. Therefore, the objective of this study is to describe the genetic and clinical characteristics of people with CF and to analyse the relationship between both using data from the rare disease registry of a region in southeastern Spain.

Methods
A cross-sectional study was carried out in people with a confirmed diagnosis of CF registered in the Rare Diseases Information System (SIER) of the Region of Murcia (Spain). The patients were classified into two genotypes according to the functional consequence that the genetic variants had on the CFTR protein.

Results
There were 192 people diagnosed with CF reported in the Region of Murcia as of 31 December 2018. Seventy-six genotypes and 49 different variants were described, with c.1521_1523delCTT (p. Phe508del) being the most common in 58.3% of the CF patients and 37.0% of the alleles. In addition, 67% of the patients were classified as a high-risk genotype, which was associated with a lower percentage of FEV1 (OR: 5.3; 95% CI: 1.2, 24.4), an increased risk of colonization by Pseudomonas aeruginosa (OR: 7.5; 95% CI: 1.7, 33.0) and the presence of pancreatic insufficiency (OR: 28.1; 95% CI: 9.3, 84.4) compared to those with a low-risk genotype.

Conclusions
This is the first study in Spain that describes the mutational spectrum and its association with clinical manifestations in patients with CF using data from a rare disease registry. The results obtained allow planning for the health resources needed by people with this disease, thus contributing to the development of personalized medicine that helps to optimize health care in CF patients.
Health technology assessment and price negotiation alignment for rare disorder drugs in Canada: Who benefits?
Authors: Rawson Nigel S. B. 
Published: June 2022

Abstract
Background
Since 2014, the Canadian Agency for Drugs and Technologies in Health (CADTH), which performs health technology assessments for all federal, provincial and territorial government drug programs (except Quebec’s) and the pan-Canadian Pharmaceutical Alliance (pCPA), which conducts price negotiations with manufacturers for all government drug programs, have been aligning their processes.

Objective
To examine trends in CADTH recommendations for non-oncology drugs for rare disorders (DRDs) released between 2014 and 2021, results of pCPA negotiations for the same drugs, and listings in government drug plans to assess who benefits from the alignment.

Results
Recommendations were positive in 87% of the reviews, although all included clinical criteria for use and/or economic conditions. Almost 90% of the DRDs with a positive recommendation had a successful price negotiation and 71% of those with a negative recommendation had no negotiation. Although no recommendation published before mid-2016 had a specified price reduction, almost 95% of those issued afterwards included the price reduction required to achieve a specific low cost-effectiveness threshold. The median time between the DRDs receiving marketing approval and a completed price negotiation was 663 days. Negotiations for DRDs completed after 2017 generally had fewer listings in government drug plans, but there was no distinct trend. The drug’s price likely played a role in listing decisions. When DRDs were listed, drug plans had access criteria consistent with CADTH’s or stronger for all the DRDs.

Conclusions
The governments who own, fund and manage CADTH and the pCPA benefit from their alignment. The alignment is less beneficial for patients waiting for access to the DRDs. The time taken by CADTH and pCPA actions and individual government drug plans to make listing decisions delays access. CADTH’s clinical criteria have become more extensive and are applied rigorously by drug plans which restricts patient access to DRDs. Canadians with rare disorders urgently need their governments to implement a long-overdue, comprehensive rare disease strategy to ensure DRDs are reviewed and reimbursed quickly and equitably to provide adequate health care to all who need them.
Social support, perceived stigma, and depression among PLHIV on second-line antiretroviral therapy using structural equation modeling in a multicenter study in Northeast Ethiopia
Authors: Wedajo Shambel , Degu Getu , Deribew Amare , Ambaw Fentie 
Published: June 2022

Abstract
Background
Depression has a multitude of clinical and public health consequences for HIV patients. The magnitude of HIV patients who failed first-line antiretroviral treatment and switched to second-line therapy is becoming a growing public health concern. However, unlike first-line therapy, to date, little attention has been given to mental health problems in such patients, particularly in the era of the COVID-19 pandemic. Thus, this research was conducted to determine the magnitude of depression and its determinants among HIV patients on second-line antiretroviral therapy.

Methods
A multi-centered cross-sectional study was conducted on 714 HIV patients on second-line therapy who were selected via systematic random sampling. Data were collected in personal interviews as well as document reviews. The nine-item patient health questionnaire score was used to assess depression, while the three-item Oslo Scale was used to assess social support. The associations between exogenous, mediating, and endogenous variables were identified simultaneously using structural equation modeling. Statistical significance was declared at a P-value less than 0.05, and the effect sizes were presented using 95% CI.

Results
Depression was reported in 27.7% of HIV patients on second-line therapy [95% CI: 24.7–31.1%]. Social support has a direct [$$\widehat{\beta }$$

β
^

= − 0.9, (95% CI: − 1.11 to − 0.69)] and indirect [$$\widehat{\beta }$$

β
^

= − 0.22, (95% CI: − 0.31 to − 0.13)] negative effect on depression. Perceived stigma was a mediator variable and significantly associated with depression [$$\widehat{\beta }$$

β
^

= 0.40, (95% CI: 0.23–0.57)]. Co-morbid illness [$$\widehat{\beta }$$

β
^

= 0.49, (95% CI: 0.35–0.63)], high viremia [$$\widehat{\beta }$$

β
^

= 0.17, (95% CI: 0.08–0.26], moderate and high-risk substance use [$$\widehat{\beta }$$

β
^

= 0.29, (95% CI: 0.18–0.39)], and not-workable functional status [$$\widehat{\beta }$$

β
^

= 0.2, (95% CI: 0.1–0.31)] were all positively associated with depression.

Conclusions
This study revealed that there was a high prevalence of depression among HIV patients on second-line antiretroviral therapy. Social and clinical factors were associated with depression risk. As a result, screening, prevention, and control strategies, including psychosocial support, should be strengthened in routine clinical care.
RETRACTED ARTICLE: Immune characteristics of children with autoimmune encephalitis and the correlation with a short-term prognosis
Authors: Huang Jin-Yue , Fan Wen-Xuan , Meng Jing , Cai Chun-Quan , Li Dong 
Published: June 2022

Abstract
Background
Autoimmune encephalitis (AE) is a type of encephalopathy mediated by an antigenic immune response in the central nervous system. Most research related to autoimmune encephalitis (AE) is focused on early diagnosis, treatment and prognosis analysis; there has been little research conducted on the characteristics of immune function, and the relationship between immune function and prognoses of patients with autoimmune encephalitis needs to be studied further.

Methods
A total of 33 children with autoimmune encephalitis were identified through the clinic database and inpatient consults at Tianjin Children’s Hospital from January 2013 to January 2021. Based on the one-year follow-up and the modified Rankin Scale (mRS) prognosis score, they were divided into a good prognosis group and a poor prognosis group. The immune function characteristics of the two groups of children with autoimmune encephalitis (AE) were compared using Spearman correlation to analyse the mRS score and immune function indicators (IgA, IgG, IgM, CD4, CD8, CD4/CD8), and binary logistic regression was used to analyse the independent risk factors of the prognoses in patients with autoimmune encephalitis (AE).

Results
The differences in abnormal mental disorders and limb dyskinesia, cognitive impairment, onset types, modified Rankin Scale (mRS) scores at admission, and immune function status during remission between the two groups were statistically significant (p < 0.05).

Conclusion
There is a close correlation between modified Rankin Scale (mRS) scores and the immune function index CD4/CD8 in children with autoimmune encephalitis (AE) when they are admitted to the hospital. A young age, disturbance of consciousness, limb dyskinesia, abnormal immune function in remission and anti-NMDAR encephalitis are risk factors for poor prognoses in children with autoimmune encephalitis (AE). Clinical treatment requires more attention.
Impact of dexamethasone on the incidence of ventilator-associated pneumonia in mechanically ventilated COVID-19 patients: a propensity-matched cohort study
Authors: Scaravilli Vittorio , Guzzardella Amedeo , Madotto Fabiana , Beltrama Virginia , Muscatello Antonio , Bellani Giacomo , Monti Gianpaola , Greco Massimiliano , Pesenti Antonio , Bandera Alessandra , Grasselli Giacomo 
Published: June 2022

Abstract
Objective
To assess the impact of treatment with steroids on the incidence and outcome of ventilator-associated pneumonia (VAP) in mechanically ventilated COVID-19 patients.

Design
Propensity-matched retrospective cohort study from February 24 to December 31, 2020, in 4 dedicated COVID-19 Intensive Care Units (ICU) in Lombardy (Italy).

Patients
Adult consecutive mechanically ventilated COVID-19 patients were subdivided into two groups: (1) treated with low-dose corticosteroids (dexamethasone 6 mg/day intravenous for 10 days) (DEXA+); (2) not treated with corticosteroids (DEXA−). A propensity score matching procedure (1:1 ratio) identified patients' cohorts based on: age, weight, PEEP Level, PaO2/FiO2 ratio, non-respiratory Sequential Organ Failure Assessment (SOFA) score, Charlson Comorbidity Index (CCI), C reactive protein plasma concentration at admission, sex and admission hospital (exact matching).

Intervention
Dexamethasone 6 mg/day intravenous for 10 days from hospital admission.

Measurements and main results
Seven hundred and thirty-nine patients were included, and the propensity-score matching identified two groups of 158 subjects each. Eighty-nine (56%) DEXA+ versus 55 (34%) DEXA− patients developed a VAP (RR 1.61 (1.26–2.098), p = 0.0001), after similar time from hospitalization, ICU admission and intubation. DEXA+ patients had higher crude VAP incidence rate (49.58 (49.26–49.91) vs. 31.65 (31.38–31.91)VAP*1000/pd), (IRR 1.57 (1.55–1.58), p < 0.0001) and risk for VAP (HR 1.81 (1.31–2.50), p = 0.0003), with longer ICU LOS and invasive mechanical ventilation but similar mortality (RR 1.17 (0.85–1.63), p = 0.3332). VAPs were similarly due to G+ bacteria (mostly Staphylococcus aureus) and G− bacteria (mostly Enterobacterales). Forty-one (28%) VAPs were due to multi-drug resistant bacteria. VAP was associated with almost doubled ICU and hospital LOS and invasive mechanical ventilation, and increased mortality (RR 1.64 [1.02–2.65], p = 0.040) with no differences among patients' groups.

Conclusions
Critically ill COVID-19 patients are at high risk for VAP, frequently caused by multidrug-resistant bacteria, and the risk is increased by corticosteroid treatment.
Trial registration: NCT04388670, retrospectively registered May 14, 2020.
Communication Bridge™-2 (CB2): an NIH Stage 2 randomized control trial of a speech-language intervention for communication impairments in individuals with mild to moderate primary progressive aphasia
Authors: Roberts Angela C. , Rademaker Alfred W. , Salley Elizabeth Ann , Mooney Aimee , Morhardt Darby , Fried-Oken Melanie , Weintraub Sandra , Mesulam Marsel , Rogalski Emily 
Published: June 2022

Abstract
Background
Primary progressive aphasia (PPA) is a clinical dementia syndrome. Impairments in language (speaking, reading, writing, and understanding) are the primary and persistent symptoms. These impairments progress insidiously and devastate communication confidence, participation, and quality of life for persons living with PPA. Currently, there are no effective disease modifying treatments for PPA. Speech-language interventions hold promise for mitigating communication challenges and language symptoms. However, evidence regarding their efficacy in PPA is of low quality and there are currently no rigorous randomized trials.

Method
Communication Bridge™-2 (CB2) is a Stage 2, superiority, single-blind, randomized, parallel group, active-control, behavioral clinical trial delivered virtually within a telehealth service delivery model to individuals with PPA. Ninety carefully characterized participants with clinically confirmed PPA will be randomized to one of two speech-language intervention arms: (1) Communication Bridge™ a dyadic intervention based in communication participation therapy models that incorporates salient training stimuli or (2) the control intervention a non-dyadic intervention based in impairment therapy models addressing word retrieval and language production that incorporates fixed stimuli. The superiority of Communication Bridge™ over the Control arm will be evaluated using primary outcomes of communication confidence and participation. Other outcomes include accuracy for trained words and scripts. Participants complete two therapy blocks over a 12-month period. Outcomes will be measured at baseline, at each therapy block, and at 12 months post enrollment.

Discussion
The CB2 trial will supply Level 2 evidence regarding the efficacy of the Communication Bridge™ intervention delivered in a telehealth service delivery model for individuals with mild to moderate PPA. An important by-product of the CB2 trial is that these data can be used to evaluate the efficacy of speech-language interventions delivered in both trial arms for persons with PPA. The impact of these data should not be overlooked as they will yield important insights examining why interventions work and for whom, which will advance effectiveness trials for speech-language interventions in PPA.

Trial Registration
ClinicalTrials.govNCT03371706. Registered prospectively on December 13, 2017.