bluuebunny/crossref_metadata_2025_split huggingface dataset:
Disruption of the glomerular basement membrane associated with nutcracker syndrome and double inferior vena cava in Noonan syndrome: a case report
Authors: Omori Ayumi , Katayama Kan , Saiki Ryosuke , Masui Satoru , Suzuki Kei , Kanii Yoshinori , Tsujimoto Kayo , Nakamori Shiro , Kurita Tairo , Murata Tomohiro , Inoue Takahiro , Dohi Kaoru 
Published: February 2022

Abstract
Background
Nutcracker syndrome (NCS) is characterized by compression of the left renal vein (LRV) between the aorta and the superior mesenteric artery. While rare, NCS was reported to be accompanied by double inferior vena cava (IVC). We herein report a case of Noonan syndrome (NS) with double IVC who presented with macrohematuria and proteinuria.

Case presentation
The patient was a 23-year-old man, who had been diagnosed with NS due to RIT1 mutation, after showing foamy macrohematuria 3 weeks previously. A physical examination revealed low-set ears and a webbed neck. A urinalysis showed hematuria and proteinuria, and urinary sediments showed more than 100 isomorphic red blood cells per high-power field. His proteinuria and albuminuria concentrations were 7.1 and 4.5 g/g⋅Cr, respectively. Three-dimensional contrast-enhanced computed tomography (CT) showed double IVC and narrowing of the LRV after interflow of the left IVC. The aortomesenteric angle on a sagittal reconstruction of the CT image was 14.7°. Cystoscopy revealed a flow of macrohematuria from the left ureteral opening. On Doppler ultrasonography, there was scant evidence to raise the suspicion of the nutcracker phenomenon. Since severe albuminuria continued, a left kidney biopsy was performed. Light microscopy showed red blood cells in Bowman’s space and the tubular lumen. Electron microscopy revealed disruption of the glomerular basement membrane (GBM). Vulnerability of the GBM was suspected and a genetic analysis revealed a heterozygous mutation at c.4793 T > G (p.L1598R) in the COL4A3 gene. Screening for coagulation disorders revealed the factor VIII and von Willebrand factor (vWF) values were low, at 47.6 and 23%, respectively. A multimer analysis of vWF showed a normal multimer pattern and he was diagnosed with von Willebrand disease type 1. As the bleeding tendency was mild, replacement of factor VIII was not performed. His macrohematuria and proteinuria improved gradually without treatment, and his urinalysis results have been normal for more than 6 months.

Conclusions
The present case showed macrohematuria and proteinuria due to NCS in NS with double IVC and von Willebrand disease type 1. The macrohematuria and proteinuria originated from glomerular hemorrhage because of vulnerability of the GBM due to COL4A3 mutation.
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
Authors: Durand Christelle M. , Angelini Chloé , Michaud Vincent , Delleci Claire , Coupry Isabelle , Goizet Cyril , Trimouille Aurelien 
Published: February 2022

Abstract
Background
VPS13D is a large ubiquitin-binding protein playing an essential role in mitophagy by regulating mitochondrial fission. Recently, VPS13D biallelic pathogenic variants have been reported in patients displaying variable neurological phenotypes, with an autosomic recessive inheritance.
The objectives of the study were to determine the genetic etiology of a patient with early onset sporadic progressive spastic ataxia, and to investigate the pathogenicity of VPS13D variants through functional studies on patient’s skin fibroblasts.

Case presentation
We report the case of a 51-year-old patient with spastic ataxia, with an acute onset of the disease at age 7. Walking difficulties slowly worsened over time, with the use of a wheelchair since age 26. We have used trio-based whole-exome sequencing (WES) to identify genes associated with spastic ataxia. The impact of the identified variants on mitochondrial function was assessed in patient’s fibroblasts by imaging mitochondrial network and measuring level of individual OXPHOS complex subunits. Compound heterozygous variants were identified in VPS13D: c.946C > T, p.Arg316* and c.12416C > T, p.(Ala4139Val). Primary fibroblasts obtained from this patient revealed an altered mitochondrial morphology, and a decrease in levels of proteins from complex I, III and IV.

Conclusions
Our findings confirmed implication of VPS13D in spastic ataxia and provided further support for mitochondrial defects in patient’s skin fibroblasts with VPS13D variants. This report of long-term follow up showed a slowly progressive course of the spastic paraplegia with cerebellar features. Furthermore, the performed functional studies could be used as biomarker helping diagnosis of VPS13D-related neurological disorders when molecular results are uneasy to interpret.
Comparison of outcomes between intracapsular resection and pseudocapsule-based extracapsular resection for pituitary adenoma: a systematic review and meta-analysis
Authors: Zhang Xiang , Wang Yan-Gang , Tan Jiahe , Zhao Guanjian , Ma Mincai , Chen Jin , Huang Ning 
Published: February 2022

Abstract
Background
Transsphenoidal surgery is the preferred first-line therapy for most pituitary adenoma(PA), and the conventional strategy of treatment is intracapsular resection(IR). The protocol of extracapsular resection(ER), which considers the pseudocapsule as the PA boundary for surgical removal, has also been introduced gradually. In this study, the clinical efficacies and complications were explored and compared between these two procedures.

Methods
A systematic literature review was performed in the PubMed, EMBASE, Web of Science and Cochrane databases. Articles comparing between IR and ER were included.

Results
There were 7 studies containing 1768 cases in accordance with the inclusion criteria. Although the meta-analysis showed no significant difference in complete resection, a sensitivity analysis revealed that ER was more conducive to total PA resection than IR. Moreover, we found a significant difference in favor of ER regarding biochemical remission. Furthermore, there was no significant difference in the incidence rate of certain complications, such as hormone deficiency, diabetes insipidus, intraoperative cerebrospinal fluid(CSF) and postoperative CSF leakage. However, a sensitivity analysis suggested that IR decreased the risk of intraoperative CSF leakage.

Conclusions
This meta-analysis unveiled that ER contributed to biochemical remission. To some extent, our results also showed that ER played a positive role in complete resection, but that IR reduced the incidence of intraoperative CSF leakage. However, the available evidence needs to be further authenticated using well-designed prospective, multicenter, randomized controlled clinical trials.
Acute disseminated encephalomyelitis with bilateral optic neuritis following ChAdOx1 COVID-19 vaccination
Authors: Nagaratnam Sai A. , Ferdi Alex C. , Leaney John , Lee Raymond Lam Kwong , Hwang Yun Tae , Heard Robert 
Published: February 2022

Abstract
Background

Acute disseminated encephalomyelitis (ADEM) is a rare immune-mediated inflammatory demyelinating disease of the central nervous system. We report a case of ADEM presenting with bilateral optic neuritis temporally associated with the ChAdOx1 vaccine against SARS-COVID19 virus.

Case presentation
A 36-year-old female presented with bilateral optic neuritis following her first dose of the ChAdOx1 vaccine. Initial MRI Brain showed evidence of demyelination within the subcortical white matter, with no radiological involvement of the optic nerves. Visual evoked potentials were consistent with bilateral optic neuritis which was confirmed radiologically on follow up MRI. She was treated with intravenous steroids with improvement both in symptoms and radiological appearance. A pseudo-relapse occurred which was treated with a further course of intravenous steroids followed by an oral taper. The clinical, radiological and serological results were most consistent with diagnosis of ADEM.

Conclusions
ADEM is an exceedingly rare complication of ChAdOx1 vaccine despite millions of doses. While it is imperative clinicians remain aware of neurological complications of vaccines, the importance of vaccination to control a pandemic should not be undermined.
The prognostic and predictive value of ESR1 fusion gene transcripts in primary breast cancer
Authors: Vitale Silvia R. , Ruigrok-Ritstier Kirsten , Timmermans A. Mieke , Foekens Renée , Trapman-Jansen Anita M. A. C. , Beaufort Corine M. , Vigneri Paolo , Sleijfer Stefan , Martens John W. M. , Sieuwerts Anieta M. , Jansen Maurice P. H. M. 
Published: February 2022

Abstract
Background
In breast cancer (BC), recurrent fusion genes of estrogen receptor alpha (ESR1) and AKAP12, ARMT1 and CCDC170 have been reported. In these gene fusions the ligand binding domain of ESR1 has been replaced by the transactivation domain of the fusion partner constitutively activating the receptor. As a result, these gene fusions can drive tumor growth hormone independently as been shown in preclinical models, but the clinical value of these fusions have not been reported. Here, we studied the prognostic and predictive value of different frequently reported ESR1 fusion transcripts in primary BC.

Methods
We evaluated 732 patients with primary BC (131 ESR1-negative and 601 ESR1-positive cases), including two ER-positive BC patient cohorts: one cohort of 322 patients with advanced disease who received first-line endocrine therapy (ET) (predictive cohort), and a second cohort of 279 patients with lymph node negative disease (LNN) who received no adjuvant systemic treatment (prognostic cohort). Fusion gene transcript levels were measured by reverse transcriptase quantitative PCR. The presence of the different fusion transcripts was associated, in uni- and multivariable Cox regression analysis taking along current clinico-pathological characteristics, to progression free survival (PFS) during first-line endocrine therapy in the predictive cohort, and disease- free survival (DFS) and overall survival (OS) in the prognostic cohort.

Results
The ESR1-CCDC170 fusion transcript was present in 27.6% of the ESR1-positive BC subjects and in 2.3% of the ESR1-negative cases. In the predictive cohort, none of the fusion transcripts were associated with response to first-line ET. In the prognostic cohort, the median DFS and OS were respectively 37 and 93 months for patients with an ESR1-CCDC170 exon 8 gene fusion transcript and respectively 91 and 212 months for patients without this fusion transcript. In a multivariable analysis, this ESR1-CCDC170 fusion transcript was an independent prognostic factor for DFS (HR) (95% confidence interval (CI): 1.8 (1.2–2.8), P = 0.005) and OS (HR (95% CI: 1.7 (1.1–2.7), P = 0.023).

Conclusions
Our study shows that in primary BC only ESR1-CCDC170 exon 8 gene fusion transcript carries prognostic value. None of the ESR1 fusion transcripts, which are considered to have constitutive ER activity, was predictive for outcome in BC with advanced disease treated with endocrine treatment.
Prevalence and diagnostic ability of β-zone parapapillary atrophy in open-angle glaucoma: a systematic review and meta-analysis
Authors: Zhou Dengming , Cao Mengdan , Duan Xuanchu 
Published: February 2022

Abstract
Background
β-Zone parapapillary atrophy (β-PPA) is a common sign in patients with open-angle glaucoma (OAG). Some studies have suggested that β-PPA can aid in the diagnosis of OAG. We performed a systematic review and meta-analysis of the prevalence and diagnostic ability of β-PPA in OAG.

Methods
We performed a literature search in PubMed, Web of Science, Embase and Google Scholar from inception to 1st November, 2021. Both hospital-based and population-based studies that reported details of β-PPA in OAG were included.

Results
We screened 1404 articles from these databases and ultimately included 24 articles in our meta-analysis. The prevalence of β-PPA in OAG was 0.73 (95% CI 0.67 to 0.78). The results of subgroup analysis by country revealed prevalence rates of 0.83 (95% CI 0.78 to 0.88) in Japan, 0.85 (95% CI 0.64 to 0.97) in Korea, 0.64 (95% CI 0.55 to 0.73) in the USA, 0.61 (95% CI 0.58 to 0.63) in Germany and 0.57 (95% CI 0.39 to 0.74) in China. Fundus photography, Heidelberg retina tomography (HRT), Heidelberg retina angiography (HRA) + indocyanine green angiography (ICGA), Spectral domain optical coherence tomography (SD-OCT)and Swept source optical coherence tomography(SS-OCT) values were 0.65 (95% CI 0.58 to 0.71), 0.70 (95% CI 0.50 to 0.86), 0.78 (95% CI 0.61 to 0.91), 0.77 (95% CI 0.65 to 0.88) and 0.99(95% CI 0.87 to 1.00) respectively. The sensitivity and specificity of β-PPA as a diagnostic marker were 0.78 (95% CI 0.68 to 0.85) and 0.63 (95% CI 0.51 to 0.73), respectively.

Conclusions
β-PPA is a potential diagnostic marker for OAG. However, a more detailed understanding of β-PPA characteristics is needed to improve the ability to predict OAG.
Myocardial infarction due to thrombotic occlusion despite anticoagulation in Kawasaki disease – a case report
Authors: van Stijn Diana , Schoenmaker Nikki J. , Planken R. Nils , Koolbergen Dave R. , Gouw Samantha C. , Kuijpers Taco W. , Blom Nico A. , Kuipers Irene M. 
Published: February 2022

Abstract
Background
Kawasaki disease (KD) is a pediatric vasculitis. Mainly the coronary arteries become affected due to acute inflammation and formation of coronary artery aneurysms (CAAs) can occur. The larger the CAA, the higher the risk for clinical complications and major adverse cardiac events, as the blood flow changes to vortex or turbulent flow facilitating thrombosis. Such patients may develop life threatening thrombotic coronary artery occlusion and myocardial ischemiaunless anti-platelet and anti-coagulation therapy is timely initiated.

Case presentation
We present a unique case of a 5-year-old girl with KD associated giant CAAs suffering from myocardial ischemia due to acute progressive thrombus growth despite intensive anticoagulation treatment (acetylsalicylic acid, acenocoumarol and clopidogrel) after 21 months of onset of disease. Thrombus growth continued even after percutaneous coronary intervention (PCI) with thrombolytic treatment and subsequent systemic thrombolysis, finally causing lasting myocardial damage. Acute coronary artery bypass grafting (CABG) was performed, although technically challenging at this very young age. Whereas myocardial infarction was not prevented, follow-up fortunately showed favorable recovery of heart failure.

Conclusions
Anticoagulation and thrombolysis may be insufficient for treatment of acute coronary syndrome in case of impending thrombotic occlusion of giant coronary aneurysms in KD. Our case demonstrates that a thrombus can still continue to grow despite triple anticoagulation therapy and well-tailored cardiovascular follow-up, which can be most likely attributed to the state of low blood flow inside the aneurysm.
Perinatal, neonatal, developmental and demographic predictors of intelligence at 4 years of age among low birth weight children: a panel study with a 2-year follow-up
Authors: Kenyhercz Flóra , Kósa Karolina , Nagy Beáta Erika 
Published: February 2022

Abstract
Intoduction
Childhood intelligence is an important predictor of later outcomes in life such as socioeconomic status or health. Hence, a deeper understanding of predictors of child intelligence should suggest points of intervention for children facing adversities.

Objectives
The purpose of this study is to examine the predictive value of demographic, perinatal and neonatal variables after birth and developmental characteristics at age 2 for 4-year intelligence as outcome among low birth weight children.

Methods
We designed a panel study with a 2-year follow-up with 114 child-mother pairs. The outcome variable was IQ intelligence quotient at 4 years of age of LBW low birth weight children measured by the Wechsler Primary and Preschool Scales of Intelligence. Potential predictors were maternal education, family wealth, ethnic identity; sex, twin pregnancy, gestational age, birth weight, Apgar scores, maternal smoking during pregnancy; diagnosis of intravetricular haemorrhage, retinopathy of prematurity, bronchopulmonary dysplasia after birth and cognitive, language and motor development at age 2 measured by one composite score of the three Bayley Scales of Infant and Toddler Development aggregated.

Results
Stepwise backward regression was carried out including significant variables from the bivariate analysis. The best model included 4 predictors which accounted for 57% of the variance of the full IQ intelligence at 4-years of age. Maternal higher education was significant positive, below average family wealth and neonatal diagnosis of bronchopulmonary dysplasia were significant negative predictors in the model after birth. 2-year developmental characteristics such as cognitive, motor and language skills were positive predictors of the IQ intelligence at age 4.

Conclusion
Sociodemographic assessment at birth and developmental assessment at two years of age are of crucial importance to recognize children at high risk for delayed cognitive development. High-risk children should be directed to supportive interventions and their development should be regulary monitored.
Preferences of psychotherapists for blended care in Germany: a discrete choice experiment
Authors: Phillips Elena A. , Himmler Sebastian , Schreyögg Jonas 
Published: February 2022

Abstract
Objectives
Digital treatment formats are emerging within mental health care. Evidence suggests that mental health care providers and recipients prefer a combination of digital and traditional elements within psychotherapy treatment formats, also called blended care (BC), over standalone digital formats. We examined the attitudes and preferences of licensed psychotherapists in Germany regarding such BC applications.

Methods
We fielded a survey among psychotherapists, including questions about attitudes, previous experiences, and expectations regarding BC, as well as a discrete choice experiment. Attributes for the experiment were developed using a stepwise qualitative approach. A Bayesian D-efficient design was used to generate the choice tasks. The choice data were analyzed by applying mixed logit models.

Results
The survey was completed by 200 psychotherapists. Attitudes towards BC were mainly positive, with strong reported intentions to use BC formats. In the choice experiment, recommendation from a professional society for a BC online component was the most important characteristic. Greater effectiveness and a larger share of face-to-face vs. online time were also desired features, while a financial incentive to use BC was less relevant.
KODY, an all-of-family response to co-occurring substance use and domestic violence: protocol for a quasi-experimental intervention trial
Authors: Kertesz Margaret , Humphreys Cathy , Fogden Larissa , Scott Katreena , Laslett Anne-Marie , Tsantefski Menka 
Published: February 2022

AbstractBackgroundThe co-occurrence of domestic violence with alcohol and other drugs significantly increases the severity of abuse and violence experienced by family members. Longitudinal studies indicate that substance use is one of few predictors of men’s continued use of, or desistance from, violence. Recent developments in men’s behaviour change programs have focused on men’s attitudes and behaviour towards their children, and the exploration of interventions that address the needs of all family members. However, the research evidence is limited on the most effective elements of men’s behaviour change programs in promoting the safety and wellbeing of child and women victim survivors.This study aims to build on the existing evidence by trialling the KODY program which addresses harmful substance use by men who also perpetrate domestic violence; the safety and wellbeing of women and children; the needs of children in their own right, as well as in relationship with their mothers; and the development of an ‘all-of-family’ service response. The evaluation of these innovations, and the ramifications for policy development to support less fragmented service system responses, provide the rationale for the study.Methods/DesignA quasi-experimental design will be used to assess the primary outcomes of improving the safety and wellbeing of mothers and children whose (ex)partners and fathers respectively participate in KODY (the trial program), when compared with ‘Caring Dadsstandard’ (the comparison group). Psychometric tests will be administered to fathers and mothers at baseline, post-program and at 3-month follow up. Data collection will occur over three years.DiscussionBy building the evidence base about responses to co-occurring domestic violence and substance use, this study aims to develop knowledge about improving safety outcomes for women and children, and to better understand appropriate support for children in families living at the intersection of domestic violence and substance use. It is anticipated that study findings will point to the ramifications for policy development to support less fragmented service system responses.Trial registrationAn application for registration with the Australian and New Zealand Clinical Trials Registry (https://www.anzctr.org.au/) was lodged on 20 December 2021 (Request number: 383206)—prospectively registered.
The impact of COVID-19 and associated measures on health, police, and non-government organisation service utilisation related to violence against women and children
Authors: Butler Nadia , Quigg Zara , Pearson Isabelle , Yelgezekova Zhamin , Nihlén Aasa , Bellis Mark A. , Yon Yongjie , Passmore Jonathon , Aguirre Isabel Yordi , Stöckl Heidi 
Published: February 2022

Abstract
Background
Globally, concerns have been raised that the priority implementation of public health measures in response to COVID-19 may have unintended negative impacts on a variety of other health and wellbeing factors, including violence. This study examined the impact of COVID-19 response measures on changes in violence against women and children (VAWC) service utilisation across European countries.

Methods
A rapid assessment design was used to compile data including a survey distributed across WHO Europe Healthy Cities Networks and Violence Injury Prevention Focal Points in WHO European Region member states, and a scoping review of media reports, journal articles, and reports. Searches were conducted in English and Russian and covered the period between 1 January 2020 and 17 September 2020. Data extracted included: country; violence type; service sector; and change in service utilisation during COVID-19. All data pertained to the period during which COVID-19 related public health measures were implemented compared to a period before restrictions were in place.

Results
Overall, findings suggested that there was a median reported increase in VAWC service utilisation of approximately 20% during the COVID-19 pandemic. Crucially, however, change in service utilisation differed across sectors. After categorising each estimate as reflecting an increase or decrease in VAWC service utilisation, there was a significant association between sector and change in service utilisation; the majority of NGO estimates (95.1%) showed an increase in utilisation, compared to 58.2% of law enforcement estimates and 42.9% of health and social care estimates.

Conclusions
The variation across sectors in changes in VAWC service utilisation has important implications for policymakers in the event of ongoing and future restrictions related to COVID-19, and more generally during other times of prolonged presence in the home. The increased global attention on VAWC during the pandemic should be used to drive forward the agenda on prevention, increase access to services, and implement better data collection mechanisms to ensure the momentum and increased focus on VAWC during the pandemic is not wasted.