bluuebunny/crossref_metadata_2025 huggingface dataset:
A Systematic Literature Review on Personal Financial Well-Being: The Link to Key Sustainable Development Goals 2030
Authors: Bashir Ifra , Qureshi Ishtiaq Hussain
Published: June 2022

This study presents systematic literature review (SLR) of financial well-being which is crucial for attaining several key UN Sustainable Development Goals 2030 (SDG 1, 3, 10 and 16). After applying the criteria of selection, the study included 133 publications from 79 high-impact journals, using Web of Science (WoS) Core Collection database. Unlike previous studies, the study contributes to the existing body of knowledge by conducting systematic review of financial well-being literature from a holistic perspective and presenting the most recent and up-to-date research findings in the area. VOSviewer, a software tool was used to create bibliometric networks. The results of this systematic review study suggested the following conclusions: (a) financial well-being is a dynamic and multidimensional construct; (b) studies studying antecedents of financial well-being are far more in number than consequences; (c) majority of the previous studies are based on quantitative research methods (112), that is, secondary data research (75); (d) financial well-being has been mostly quantified using subjective measures; (e) the previous studies seems to be dominated by developed countries like the USA, Canada, Germany, and, England posing several limitations in practice; (f) Financial well-being was mostly studied with ‘poverty’, ‘behavior’, ‘income’, ‘health’ and ‘growth’. Limitations and future research directions of the current study are discussed.
Posterior Vault Distraction for Multi-Suture Craniosynostosis in a Patient with Craniometaphyseal Dysplasia: A Case Report
Authors: Kennedy Diana , Loh Ian , Branson Helen M. , Forrest Christopher R.
Published: June 2022

Study Design

Case report

Objective

Syndromic multi-suture craniosynostosis can result in complex dysmorphology and increased intracranial pressure. We present a case report of a child with craniometaphyseal dysplasia and syndromic multi-suture craniosynostosis who presented with increased intracranial pressure, ventriculomegaly and Chiari deformity Type 1.

Methods

The child underwent a posterior vault distraction to increase the intracranial volume.

Results

The posterior cranial expansion was successful in correcting the craniocerebral disproportion caused by multi-suture synostosis, and resolved the high intracranial pressure and papilloedema. There were no post-operative complications.

Conclusions

Posterior cranial vault distraction was an effective method of addressing increased intracranial pressure by correcting craniocerebral disproportion by increasing intracranial volume and also addressing the Chiari Type I deformity that resulted from syndromic multi-suture craniosynostosis in a child with craniometaphyseal dysplasia.
International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data
Authors: Arber Daniel A. , Orazi Attilio , Hasserjian Robert P. , Borowitz Michael J. , Calvo Katherine R. , Kvasnicka Hans-Michael , Wang Sa A. , Bagg Adam , Barbui Tiziano , Branford Susan , Bueso-Ramos Carlos E. , Cortes Jorge E. , Dal Cin Paola , DiNardo Courtney D. , Dombret Hervé , Duncavage Eric J. , Ebert Benjamin L. , Estey Elihu H. , Facchetti Fabio , Foucar Kathryn , Gangat Naseema , Gianelli Umberto , Godley Lucy A. , Gökbuget Nicola , Gotlib Jason , Hellström-Lindberg Eva , Hobbs Gabriela S. , Hoffman Ronald , Jabbour Elias J. , Kiladjian Jean-Jacques , Larson Richard A. , Le Beau Michelle M. , Loh Mignon L.-C. , Löwenberg Bob , Macintyre Elizabeth , Malcovati Luca , Mullighan Charles G. , Niemeyer Charlotte , Odenike Olatoyosi M. , Ogawa Seishi , Orfao Alberto , Papaemmanuil Elli , Passamonti Francesco , Porkka Kimmo , Pui Ching-Hon , Radich Jerald P. , Reiter Andreas , Rozman Maria , Rudelius Martina , Savona Michael R. , Schiffer Charles A. , Schmitt-Graeff Annette , Shimamura Akiko , Sierra Jorge , Stock Wendy A. , Stone Richard M. , Tallman Martin S. , Thiele Jürgen , Tien Hwei-Fang , Tzankov Alexandar , Vannucchi Alessandro M. , Vyas Paresh , Wei Andrew H. , Weinberg Olga K. , Wierzbowska Agnieszka , Cazzola Mario , Döhner Hartmut , Tefferi Ayalew
Published: June 2022

The classification of myeloid neoplasms and acute leukemias was last updated in 2016 within a collaboration between the World Health Organization (WHO), the Society for Hematopathology, and the European Association for Haematopathology. This collaboration was primarily based on input from a clinical advisory committees (CACs) composed of pathologists, hematologists, oncologists, geneticists, and bioinformaticians from around the world. The recent advances in our understanding of the biology of hematologic malignancies, the experience with the use of the 2016 WHO classification in clinical practice, and the results of clinical trials have indicated the need for further revising and updating the classification. As a continuation of this CAC-based process, the authors, a group with expertise in the clinical, pathologic, and genetic aspects of these disorders, developed the International Consensus Classification (ICC) of myeloid neoplasms and acute leukemias. Using a multiparameter approach, the main objective of the consensus process was the definition of real disease entities, including the introduction of new entities and refined criteria for existing diagnostic categories, based on accumulated data. The ICC is aimed at facilitating diagnosis and prognostication of these neoplasms, improving treatment of affected patients, and allowing the design of innovative clinical trials.
Effects of endurance training on metabolic enzyme activity and transporter protein levels in the skeletal muscles of orchiectomized mice
Authors: Takahashi Kenya , Kitaoka Yu , Hatta Hideo
Published: June 2022

This study investigated whether endurance training attenuates orchiectomy (ORX)-induced metabolic alterations. At 7 days of recovery after sham operation or ORX surgery, the mice were randomized to remain sedentary or undergo 5 weeks of treadmill running training (15–20 m/min, 60 min, 5 days/week). ORX decreased glycogen concentration in the gastrocnemius muscle, enhanced phosphofructokinase activity in the plantaris muscle, and decreased lactate dehydrogenase activity in the plantaris and soleus muscles. Mitochondrial enzyme activities and protein content in the plantaris and soleus muscles were also decreased after ORX, but preserved, in part, by endurance training. In the treadmill running test (15 m/min, 60 min) after 4 weeks of training, orchiectomized sedentary mice showed impaired exercise performance, which was restored by endurance training. Thus, endurance training could be a potential therapeutic strategy to prevent the hypoandrogenism-induced decline in muscle mitochondrial content and physical performance.
The complete mitochondrial genome of okra (Abelmoschus esculentus): using nanopore long reads to investigate gene transfer from chloroplast genomes and rearrangements of mitochondrial DNA molecules
Authors: Li Jihan , Li Jingling , Ma Yubo , Kou Lu , Wei Juanjuan , Wang Weixing
Published: June 2022

Background

Okra (Abelmoschus esculentus L. Moench) is an economically important crop and is known for its slimy juice, which has significant scientific research value. The A. esculentus chloroplast genome has been reported; however, the sequence of its mitochondrial genome is still lacking.

Results

We sequenced the plastid and mitochondrial genomes of okra based on Illumina short reads and Nanopore long reads and conducted a comparative study between the two organelle genomes. The plastid genome of okra is highly structurally conserved, but the mitochondrial genome of okra has been confirmed to have abundant subgenomic configurations. The assembly results showed that okra’s mitochondrial genome existed mainly in the form of two independent molecules, which could be divided into four independent molecules through two pairs of long repeats. In addition, we found that four pairs of short repeats could mediate the integration of the two independent molecules into one complete molecule at a low frequency. Subsequently, we also found extensive sequence transfer between the two organelles of okra, where three plastid-derived genes (psaA, rps7 and psbJ) remained intact in the mitochondrial genome. Furthermore, psbJ, psbF, psbE and psbL were integrated into the mitochondrial genome as a conserved gene cluster and underwent pseudogenization as nonfunctional genes. Only psbJ retained a relatively complete sequence, but its expression was not detected in the transcriptome data, and we speculate that it is still nonfunctional. Finally, we characterized the RNA editing events of protein-coding genes located in the organelle genomes of okra.

Conclusions

In the current study, our results not only provide high-quality organelle genomes for okra but also advance our understanding of the gene dialogue between organelle genomes and provide information to breed okra cultivars efficiently.
Outcomes in ST-segment elevation myocardial infarction treated with primary percutaneous coronary intervention or pharmacoinvasive strategy in a Latin American country
Authors: Chacón-Diaz Manuel , Custodio-Sánchez Piero , Rojas De la Cuba Paol , Yábar-Galindo Germán , Rodríguez-Olivares René , Miranda-Noé David , López-Rojas Luis Marcos , Hernández-Vásquez Akram
Published: June 2022

Objective

The primary percutaneous coronary intervention (PPCI) is the preferred reperfusion strategy for ST-segment elevation myocardial infarction (STEMI). The pharmacoinvasive strategy (PIs) is a reasonable alternative when prompt PPCI is not possible, especially in resource-limited regions. We aimed to compare PPCI versus PIs outcomes in Peru.

Methods

This was a retrospective cohort study based on the second Peruvian Registry of STEMI (PERSTEMI II). We compared the characteristics, in-hospital outcomes and 30-day mortality of patients undergoing PPCI during the first 12 h and those receiving a PIs. A propensity score-matched analysis was conducted to compare the effects of each treatment strategy on clinical outcomes.

Results

PIs patients were younger than PPCI patients, had a shorter first medical contact time, first medical contact to reperfusion time, and total ischemic time until reperfusion. Successful PCI was more frequent in the PIs group (84.4% vs. 71.1%, p = 0.035). There were no differences between PIs and PPCI in terms of total in-hospital mortality (5.2% vs. 6.6%, p = 0.703), cardiovascular mortality (4.2% vs. 5.3%, p = 0.735), cardiogenic shock (8.3% vs. 13.2%, p = 0.326), heart failure (19.8% vs. 30.3%, p = 0.112), or major bleeding (0% vs. 2.6%, p = 0.194). In the propensity score-matched analysis, the rates of cardiovascular mortality, postinfarction heart failure and successful reperfusion were similar.

Conclusions

In this real-world study, no differences were found in the in-hospital outcomes between patients with STEMI who received PIs or PPCI.
Transcatheter arterial chemoembolization alone versus combined with microwave ablation for recurrent small hepatocellular carcinoma after resection: a retrospective comparative study
Authors: Ji Jie , Yang Wei , Shi Hai-Bin , Liu Sheng , Zhou Wei-Zhong
Published: June 2022

Purpose

To compare the efficacy and safety of transcatheter arterial chemoembolization combined with microwave ablation (TACE–MWA) versus TACE alone for the treatment of recurrent small hepatocellular carcinoma (sHCC) after resection.

Materials and methods

From June 2015 to January 2020, a total of 45 patients with recurrent sHCC (size ≤ 3 cm) treated by TACE–MWA or TACE were included in this study. The radiological response at 1-, 3-, 6-month after initial treatment [modified Response Evaluation Criteria in Solid Tumors (mRECIST)], progression-free survival (PFS), overall survival (OS), and complications were evaluated.

Results

The TACE–MWA group showed better 1-, 3-, 6-month tumor response rates than TACE group. The corresponding 1-, 3-, and 5-year PFS rates were 76.5%, 70.6%, and 70.6% for the TACE–MWA group, and 56.1%, 15.0%, and 15.0% for the TACE group (P = 0.003). The 1-, 3-, and 5-year OS rates were 100.0%, 82.1%, and 61.5% for the TACE–MWA group, and 89.0%, 58.1%, and 50.8% for the TACE group (P = 0.389), respectively. Moreover, no major complications related to treatment were observed in either of the groups. Compared with the TACE group, the TACE–MWA group had a significantly lower number of re-TACE sessions (P = 0.003).

Conclusions

Although TACE alone provides equivalent effectiveness for recurrent sHCC in terms of OS rates, TACE–MWA had better 1-, 3-, 6-month tumor response rates and may prolong tumor PFS time.
Community-based group physical activity and/or nutrition interventions to promote mobility in older adults: an umbrella review
Authors: Neil-Sztramko Sarah E. , Teggart Kylie , Moore Caroline , Sherifali Diana , Fitzpatrick-Lewis Donna , Coletta Giulia , Phillips Stuart M. , Newbold K. Bruce , Alvarez Elizabeth , Kuspinar Ayse , Kennedy Courtney C. , Santaguida Pasqualina L. , Ganann Rebecca
Published: June 2022

Background

Physical activity and a healthy diet are important in helping to maintain mobility with aging. This umbrella review aims to identify group-based physical activity and/or nutrition interventions for community-dwelling older adults that improve mobility-related outcomes.

Methods

Five electronic databases (MEDLINE, Embase, CINAHL, Cochrane CENTRAL, Sociological Abstracts) were searched from inception to December 2021. Eligibility criteria included systematic reviews exploring the effectiveness of physical activity or structured exercise, alone or combined with nutrition interventions on mobility-related outcomes (aerobic capacity, physical function, balance, falls/safety, muscle strength, health-related quality of life/wellbeing). Interventions must have been delivered in a group setting to community-dwelling older adults aged 55+. Two reviewers independently performed eligibility screening, critical appraisal (using AMSTAR 2) and data extraction. The GRADE approach was used to reflect the certainty of evidence based on the size of the effect within each mobility-related outcome category. Older adult/provider research partners informed data synthesis and results presentation.

Results

In total, 62 systematic reviews (1 high, 21 moderate, 40 low/critically low quality) were identified; 53 included physical activity only, and nine included both physical activity and nutritional supplements. No reviews included nutrition interventions alone. Combined aerobic/resistance, general physical activity, and mind-body exercise all improved physical function and balance (moderate-high certainty). Aerobic/resistance training improved aerobic capacity (high certainty). Resistance training and general physical activity improved muscle strength (moderate certainty). Aerobic/resistance training and general physical activity are likely to reduce falls among older adults (moderate certainty). There was no evidence of benefit for nutritional supplementation with physical activity.

Conclusions

Group-based physical activity interventions that combine aerobic and resistance, general PA and mind-body exercise can improve measures of mobility in community-dwelling older adults. We found no reviews focused on nutrition only, highlighting a gap in the literature.
Changing demographics and immunity to vaccine preventable diseases in people with HIV in Ireland
Authors: Kerr C. , Kelleher M. , Coughlan S. , Crowley B. , O’Reilly E. J. , Bergin C.
Published: June 2022

Background

HIV infection is associated with an increased risk of morbidity and mortality from vaccine preventable infections. This research describes, in the context of changing patient demographics, the seroprevalence of vaccine preventable viral infections among attendees of the largest centre for HIV positive patients in Ireland.

Methods

Baseline serum IgG results for measles, mumps, rubella, varicella zoster virus (VZV) & hepatitis A, as well as hepatitis B sAg, cAb and sAb results, were retrieved for 2534 clinic attendees attending in 2018. Results were available for between 990 and 2363 attendees (39–93%), depending on the test, and were compared with 2013 clinic data.

Results

There was a 35% increase in attendees in 2018 when compared to 2013. The largest increase was in attendees of South American origin. In 2018, males accounted for 73% of the entire cohort and the HIV acquisition risk for 48% of attendees was MSM. 47% of attendees were originally from Ireland. Among those tested, 33% were susceptible to at least one component of the MMR vaccine. 5% were VZV non-immune (significantly associated with younger age and the acquisition risk status of injection drug use). 21% were hepatitis A non-immune (significantly associated with younger age and being of European or South American origin). 32% were hepatitis B cAb seropositive (significantly associated with older age, injection drug use status and being originally from Africa). 3% demonstrated hepatitis B sAg positivity. 64% had hepatitis B sAb ≥ 10mIU.

Conclusion

In a cohort of attendees to an HIV clinic in a large urban setting, the susceptibility to several common vaccine preventable viral infections, in particular MMR and hepatitis A and B, was high. These results highlight the importance of proactive screening and immunisation to help protect this high risk patient group against vaccine preventable diseases.
Plasma C4 level was associated with mortality, cardiovascular and cerebrovascular complications in hemodialysis patients
Authors: Xing Zheyu , Wang Yaqin , Gong Kunjing , Chen Yuqing
Published: June 2022

Background

Patients on maintenance hemodialysis (HD) exhibit a high risk of death, cardiovascular and cerebrovascular diseases (CCDs). Previous studies indicated complement activation associated with the increased risk of cardiovascular diseases in HD patients. This study aimed to explore whether the critical complement factors were associated with the adverse outcomes in HD patients.

Methods

A total of 108 HD patients were included and followed up for 52 months. The baseline clinical characteristics and plasma C3c, C1q, CFH, CFB, C4, MAC, C5a, C3a and MBL were measured. The three endpoints were death, cardiovascular and cerebrovascular events (CCEs) and the composition of them. Univariate and multivariate Cox regression identified factors associated with the three endpoints respectively. X-tile analyses determined the optimal cut-off values for high risks. Restricted cubic spline plots illustrated the dose–response relationships. Correlations between the complement factors and risk factors for CCDs were analyzed.

Results

Baseline plasma C4 was finally selected by univariate and multivariate Cox regression analyses for three endpoints, including all-cause mortality, CCEs and the composition of them. When baseline plasma C4 exceeded 0.47 (P = 0.001) or 0.44 (P = 0.018) g/L respectively, the risks for death or achieving the composite endpoint enhanced significantly. The relationships of C4 and HR for the three endpoints showed a positive linear trend. Plasma C4 had prominent correlations with blood TG (r = 0.62, P < 0.001) and HDL (r = -0.38, P < 0.001).

Conclusions

A higher baseline plasma C4 level was significantly associated with the future incidence of decease, CCEs and either of them. Plasma C4 level correlated with blood TG and HDL.
Prepregnancy body mass index, gestational weight gain, and maternal prepartum inflammation in normal pregnancies: findings from a Chinese cohort
Authors: Li Kuanrong , Yang Chuanzi , Fan Jiaying , Li Xiaojun , Gu Chongjuan , Liu Huishu
Published: June 2022

Background

Obesity has been linked to systemic inflammation in population studies.

Objective

To examine the associations of prepregnancy body mass index (pBMI) and total gestational weight gain (tGWG) with maternal prepartum low-grade inflammation (LGI) and clinically significant inflammation (CSI) defined by serum C-reactive protein (CRP) concentration.

Methods

Five thousand four hundred seventy-six Chinese women with uncomplicated pregnancies and recorded data on pBMI and prepartum body weight were included in this study. Blood samples were drawn before delivery for high-sensitivity CRP assay. Inadequate, optimal, and excessive tGWG were defined using the Institute of Medicine's recommendation. Multivariable Poisson regressions were used to estimate relative risks (RRs) for having prepartum LGI and CSI (defined as CRP concentration 3–10 and > 10 mg/L, respectively) across pBMI and tGWG categories.

Results

The mean pBMI, mean tGWG, and median maternal prepartum CRP concentration were 20.4 kg/m2, 13.9 kg, and 3.3 mg/L, respectively. The prevalence of prepartum CSI and LGI was 7.2% and 47.8%. The adjusted RRs (95% confidence interval) of CSI for normal (18.5–24.9 kg/m2) and high (≥ 25 kg/m2) vs. low pBMI (< 18.5 kg/m2) were 1.35 (1.05–1.74) and 2.28 (1.53–3.39), respectively. The respective adjusted RRs of LGI were 1.19 (1.11–1.28) and 1.59 (1.42–1.77). The adjusted RRs for excessive vs. optimal tGWG was 1.18 (0.94–1.48) for CSI and 1.14 (1.07–1.21) for LGI.

Conclusions

Prepregnancy overweight/obesity and excessive tGWG increase the risk of maternal prepartum systemic inflammation, which further highlights the importance of weight management before and during pregnancy.
Preeclampsia risk prediction model for Chinese pregnant women (ChiPERM): research protocol for a randomized stepped-wedge cluster trial
Authors: Zhou Qiongjie , Xu Jinghui , Xiong Yu , Li Xiaotian
Published: June 2022

Background

Despite international clinical guideline recommendations, implementation of Bayes-theorem based preeclampsia risk prediction model in first trimester among Chinese women is limited. The aim of this study is to examine the effectiveness of this risk predictive strategy in reducing the risk of preeclampsia.

Methods

The study will be a randomized, stepped-wedge controlled trial conducted in eighteen hospitals in China. Stepped implementation of Bayes-theorem based risk prediction model will be delivered to hospitals in a random order to support the introduction of this prediction model of preeclampsia. A staged process will be undertaken to develop the risk prediction strategies, which comprise of: combined risk evaluation by maternal risk factors, medium arterial pressure, uterine artery pulse index and placenta growth factor during 11–13+6 gestational weeks, monthly follow up (including blood pressure, newly onset complications, adherence to aspirin). Repeated cross-sectional outcome data will be gathered weekly across all hospitals for the study duration. The primary outcome measures are the incidence of preeclampsia within 42 days postpartum. Data on resources expended during intervention development and implementation will be collected. The incidence of pregnancy related complications will be measured as secondary outcomes.

Discussion

This will be the first randomized controlled trial to evaluate the effectiveness of the Bayes-theorem based preeclampsia risk prediction strategies in first trimester by competing risk model validation. If positive changes in clinical practice are found, this evidence will support health service adoption of this risk prediction model to reduce the risk of preeclampsia among Chinese pregnant women.

Trial registration

Chinese Clinical Trials Registry, No. ChiCTR2100043520 (date registered:21/2/2021).
Switching to ziv-aflibercept in resistant diabetic macular edema non responsive to ranibizumab injection
Authors: Nawar Amin E. , Wasfy Tamer , Shafik Heba M.
Published: June 2022

Background

Diabetic macular edema (DME) is a leading cause of visual loss in diabetic patients and is managed using multiple anti-vascular endothelial growth factor (VEGF) agents such as bevacizumab, ranibizumab and aflibercept. The present study evaluates effectiveness of intravitreal injection of ziv-aflibercept in resistant diabetic macular edema.

Methods

This is a prospective interventional study that was carried out on 59 eyes of 40 diabetic patients with diabetic macular edema resistant to three prior consecutive ranibizumab injections. On all patients, thorough ophthalmic evaluation including optical coherence tomography was performed. In patients with persistent intraretinal or subretinal fluid, ziv- aflibercept 1.25 mg (0.05 ml) was administered by intravitreal injection monthly during the 6 month study period from June to December 2019.

Results

The central macular thickness (CMT) decreased significantly from 395.08 ± 129.9 um at baseline to 282.39 ± 95.278, 245.36 ± 79.861 and 201.17 ± 54.042 after 1, 3 and 6 months of treatment respectively (p < 0.001). Best corrected visual acuity (BCVA) in log MAR units was significantly improved from 0.95 ± 0.21 to 0.51 ± 0.23 after 6 months (p = 0.001). After treatment, negative correlations were detected between age, number of injections, duration of DM and level of glycated hemoglobin (HbA1c) and variation of both CMT and BCVA. The only significant predictor for low final CMT after 6 months of injection was the CMT after 3 months of injection (p = 0.001).

Conclusion

Ziv-aflibercept is a highly effective and safe drug in cases of DME resistant to previous ranibizumab injections especially in low-income countries.

Trial registration

This study was retrospectively registered at clinicaltrials.gov (ID: NCT04290195) on 28-2-2020.
Branch retina vein occlusion combined with angle-closure glaucoma is associated with a mutation in BEST1: a case report
Authors: Yin Xue , Cai Qinhua
Published: June 2022

Background

It is rare for a patient to be diagnosed with branch retina vein occlusion (BRVO), angle-closure glaucoma (ACG) and autosomal recessive bestrophinopathy (ARB). ARB is strongly associated with ACG. Although glaucoma is a significant risk factor for RVO, there is a plausible relationship between ACG and BRVO. To discuss correlation of these diseases is necessary.

Case presentation

The genetic testing and medical treatment of a patient with ocular fundus diseases and ACG were recorded. We present a 47-year-old male patient with BRVO who was diagnosed with angle-closure glaucoma and a homozygous mutation of c.140G > A (p.R47H) in BEST1. Intravitreal ranibizumab was administered in combination with three antiglaucomatous eyedrops to lower intraocular pressure (IOP) in the right eye. One month later, BCVA improved to 0.3. IOP was controlled at 13 mmHg.

Conclusions

ACG was likely combined to ARB, while there’s a plausible relationship between ACG and BRVO.
A multi-center, pragmatic, effectiveness-implementation (hybrid I) cluster randomized controlled trial to evaluate a child-oriented goal-setting approach in paediatric rehabilitation (the ENGAGE approach): a study protocol
Authors: Pritchard-Wiart Lesley , Thompson-Hodgetts Sandy , McKillop Ashley B. , Rosychuk Rhonda , Mrklas Kelly , Zwaigenbaum Lonnie , Zwicker Jennifer , Andersen John , King Gillian , Firouzeh Pegah
Published: June 2022

Background

Child-oriented goal-setting in pediatric rehabilitation may improve child motivation, engagement in therapy, child outcomes related to therapy, and service delivery efficiency. The primary objective of this trial is to determine the effectiveness of a principles-driven, child-focused approach to goal-setting, Enhancing Child Engagement in Goal-Setting (ENGAGE), on pediatric rehabilitation outcomes compared to usual practice. The three secondary objectives are to 1) compare costs and secondary outcomes of the ENGAGE approach to usual practice, 2) determine the influence of child, parent and therapist characteristics on child engagement in therapy and rehabilitation outcomes, and 3) identify barriers and facilitators to the implementation of ENGAGE.

Methods

This research protocol describes a pragmatic, multi-site, cluster, effectiveness-implementation (hybrid type 1 design) randomized controlled trial. Therapists (n = 12 clusters of two therapists) at participating sites (n = 6) will be randomized to 1) the ENGAGE intervention group, or 2) usual care (control) using a computer-generated, permuted-block randomization sequence with site as a stratification variable designed by a statistician (RR). Each therapist will recruit four children 5–12 years old with neurodevelopmental conditions (n = 96), who will receive ENGAGE or usual care, according to therapist group allocation. ENGAGE therapists will be trained to use a 'toolbox' of evidence-driven, theory-informed principles to optimize child and parent motivation, engagement in the goal-setting process, and performance feedback strategies. Outcomes include goal performance (primary outcome), engagement in therapy, functional abilities, participation, and parent and child quality of life. Qualitative interviews with children, parents, ENGAGE therapists, and managers will explore challenges to implementation and potential mitigation strategies. Mixed effects multiple linear regression models will be developed for each outcome to assess group differences adjusted for clustering. A cost-effectiveness analysis will combine cost and a measure of effectiveness into an incremental cost-effectiveness ratio. Qualitative data on implementation will be analyzed inductively (thematic analysis) and deductively using established implementation science frameworks.

Discussion

This study will evaluate the effects of collaborative goal-setting in pediatric rehabilitation and inform effective implementation of child-focused goal-setting practices.

Trial Registration

NCT05017363(registered August 23, 2021 on ClinicalTrials.gov).
Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report
Authors: Kawai Miki , Sugimoto Atsuya , Ishihara Yasunori , Kato Takema , Kurahashi Hiroki
Published: June 2022

Background

Incontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG/NEMO gene. IP is mostly lethal in males in utero, and only very rare male cases with a somatic mosaic mutation or a 47,XXY karyotype have been reported.

Case presentation

We here report a case of an IKBKG gene deletion in a female infant presenting with a few blisters and erythema in her upper arms at birth. MLPA analysis revealed a rare 94 kb deletion in this patient, encompassing the IKBKG gene and IKBKGP pseudogene. PCR analysis indicated the presence of Alu elements at both ends of the deletion, suggesting non-allelic homologous recombination as an underlying mechanism. Notably, a low-level mosaic deletion was identified in her father’s peripheral blood leukocytes by PCR, suggesting a rare father-to-daughter transmission of IP.

Conclusion

In family studies for an apparently sporadic IP case, parental analysis that includes the father is recommended due to the possibility of male mosaicism.
Congenital portosystemic venous shunt associated with 22q11.2 deletion syndrome: a case report
Authors: Ifuku Toshinobu , Suzuki Sayo , Nagatomo Yusaku , Yokoyama Ryohei , Yamamura Yoshiko , Nakatani Keigo
Published: June 2022

Background

22q11.2 deletion syndrome (22qDS) is the most common chromosomal microdeletion syndrome and is associated with a high rate of congenital heart disease (CHD) and neurodevelopmental abnormalities. Congenital portosystemic venous shunts (CPSS) are rare developmental abnormalities of the portal venous system. The clinical manifestations of CPSS are varied, and some patients have CHD or genetic chromosomal abnormalities, but their relationship remains unknown. We report the first case of CPSS associated with 22qDS.

Case presentation

A newborn boy referred to our institution was diagnosed with 22qDS due to characteristic facial features and complications of tetralogy of Fallot. A subsequent newborn screening test indicated hypergalactosemia and high blood levels of ammonia and bile acids. Upon closer examination, these abnormalities were found to be caused by the CPSS. Abdominal contrast-enhanced computed tomography and angiography confirmed that abnormal blood vessels ascended from the splenic vein and short-circuited to the left renal vein. Intracardiac repair for CHD was performed at 1 year of age, followed by transcatheter occlusion of the CPSS using a multilayer device (vascular plug) and detachable coil at 2 years of age. After treatment, the abnormal blood parameters promptly normalized.

Conclusions

As the blood flow of CPSS bypasses the liver, the levels of galactose, bile acids, and ammonia in the systemic veins can increase. Some patients with CPSS have CHD, and these toxic substances may cause liver and lung lesions as well as portosystemic encephalopathy (PSE). Several genetic chromosomal abnormalities, including 22qDS, and CPSS have similar symptoms, and neurodevelopmental abnormalities, particularly those caused by PSE, may be difficult to diagnose. Blood tests, such as newborn screening, and abdominal imaging are useful in the early diagnosis of CPSS.
Diagnosis and management of hypoglossal nerve-derived schwannoma in the floor of mouth: a case series
Authors: Zhong Jiayong , Zhou Zhihang , Hu Yuhua , Zhao Tongchao , Yao Yu , Zhong Laiping , Zhu Dongwang
Published: June 2022

Background

Schwannomas or neurilemmomas are well-encapsulated, benign, solitary, and slow-growing tumors that originate from Schwann cells of the nerve sheath. Extracranial schwannoma is reported to have a relatively high incidence in the tongue while an extremely low incidence in the floor of mouth. In the current study, we presented the first case series of hypoglossal nerve-derived schwannoma in the floor of mouth in Asia.

Methods

A retrospective study of 9 surgical cases of hypoglossal nerve-derived schwannoma in the floor of mouth was performed. The patient and tumor characteristics were evaluated by physical, radiological and pathological examination. Details of operation and complications were also recorded.

Results

Hypoglossal nerve-derived schwannoma in the floor of mouth showed a well-defined boundary with a firm texture, smooth surface and good mobility on palpation. The median maximum diameter of the tumors was 4.3 cm (range 2.8–7.0 cm). The median operative time and bleeding volumes were 89.4 min (range 47–180 min) and 99.2 mL (range 15–200 mL), respectively. All cases received complete surgical excision.

Conclusion

In this study, we presented the diagnosis and management of hypoglossal nerve-derived schwannoma in the floor of mouth for the first time in Asia. The study provided us with a recommendation for consideration of the diagnosis of hypoglossal schwannoma when a patient presents with a mass in the floor of mouth.
Hereditary ovarian cancer risk reduction: a retrospective evaluation of patient perspectives and service provision at a regional hereditary gynaecologic cancer clinic 2006–2016
Authors: Adolph Lauren , Warias Ashley , Stairs Jocelyn , Collins-McNeil Kelly , Penney Lynette , Kieser Katharina
Published: June 2022

Background

Germline pathogenic variants in BRCA1/2 have been established in hereditary breast and ovarian cancer (HBOC) syndrome and result in significantly elevated lifetime risk of ovarian cancer. Risk reduction interventions are presently the only effective means of improving survival and specialized counselling clinics have been established as an effective means of aiding this population in navigating complex decisions surrounding these interventions. This study sought to evaluate patient perceptions of a specialized counselling clinic for patients with HBOC Syndrome and referral patterns to this clinic.

Methods

We completed a retrospective review of 200 patients with HBOC in Nova Scotia, Canada seen through Maritime Medical Genetics Services between 2006 and 2016. Data were collected on referral pattern to the Hereditary Gynaecologic Risk Reduction Clinic (HGRRC), demographics, health history, and uptake of risk-reducing interventions. Participants were invited to complete a questionnaire about their experience.

Results

156/200(78%) women were referred to HGRCC and 135/156 (85.9%) of those referred attended their appointment. 124/200 (62%) were over age 40 at the time of testing. The mean time from referral to HGRCC appointment was 134.68 days (SD 85.78). 85/135 (63%) underwent risk-reducing bilateral salpingo-oophorectomy following their HGRCC appointment. The questionnaire was completed by 94/188 (50.3%) women. Most participants found information received from genetics clinics (81/94; 91%) and genetic counsellors (87/94; 95%) most helpful in making choices around risk-reduction strategies. 83/94 (88%) participants felt they had sufficient information to make an informed decision.

Conclusion

The majority of women with HBOC in Nova Scotia during the study period were referred to and counselled through HGRRC. Genetic counselling was found most valuable in risk-reduction decision making, which highlights the importance of a multidisciplinary team. Patients viewed this clinic as an effective care model to support informed choice about risk-reducing intervention.
Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report
Authors: Lv Haiyan , Jiang Hantao , Zhang Minge , Luo Huarong , Hong Zhenghua , Yang Hai , Xu Weiming , Shen Bo , Zhang Wei , Qiu Hao , Zhu Rangteng
Published: June 2022

Background

Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk of developing malignant tumors. Given their rarity, the pathogenesis of these tumors has not been clarified, and there is no standard treatment.

Case presentation

We present a case of a 45-year-old man with MS to supplement the clinical manifestations and explore the molecular mechanism of MS. The patient underwent amputation surgery to inhibit tumor development and was diagnosed with MS with 1–2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis results revealed isocitrate dehydrogenase 1 (IDH1) R132C mutation in chondrosarcoma lesions but not in blood DNA.

Conclusions

This case report showed MS complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation, which is appropriate to monitor the development of MS pathology and other concomitant lesions.
Clinical analysis of extralobar pulmonary sequestration with torsion in children: report of 6 cases
Authors: Ti Yunxing , Wang Yuanxiang , Huang Junrong , Zheng Fengnan , Zhang Qing
Published: June 2022

Background

Extralobar pulmonary sequestration is an uncommon congenital pulmonary malformation. Clinically, pedicle torsion of extralobar pulmonary sequestration is extremely rare. Due to inadequate awareness of its atypical presentation and imaging characteristics, clinical diagnosis is very difficult, and it is extremely easy to misdiagnose.

Case presentation

There were 6 children (3 males and 3 females), aged 3–12 years old. The main clinical symptoms of the children were abdominal and chest pain (3 cases), abdominal pain (1 case), chest pain (1 case), and vomiting and abdominal distension (1 case). Two cases were accompanied by fever. Preoperative ultrasound revealed a well-bordered mass with soft-tissue density, accompanied by pleural effusion. On contrast-enhanced computed tomography scans, the mass showed no obvious enhancement. A blood supply was only present in 1 case, and there was no feeding artery shown in the other 5 cases. Extralobar pulmonary sequestration with haemorrhagic infarction was pathologically confirmed. On postoperative days 2–6, the children were discharged uneventfully. There were no complications during the median follow-up of 4 months.

Conclusions

Torsed extralobar pulmonary sequestration usually occurs in childhood or adolescence, with abdominal and/or chest pain as the primary symptoms. Imaging examination shows a well-defined soft-tissue mass without enhancement. The feeding vessel is not clearly displayed in the mass, and extralobar pulmonary sequestration is accompanied by varying amounts of pleural effusion. Video-assisted thoracoscopic surgical resection is associated with excellent prognosis.
Safety and effectiveness of mepolizumab therapy in remission induction therapy for eosinophilic granulomatosis with polyangiitis: a retrospective study
Authors: Ueno Masanobu , Miyagawa Ippei , Aritomi Takafumi , Kimura Koichi , Iwata Shigeru , Hanami Kentaro , Fukuyo Syunsuke , Kubo Satoshi , Miyazaki Yusuke , Nakayamada Shingo , Tanaka Yoshiya
Published: June 2022

Objectives

To investigate the safety and effectiveness of mepolizumab (MPZ), an anti-interleukin-5 antibody, as remission induction therapy for severe eosinophilic granulomatosis with polyangiitis (EGPA).

Methods

The clinical courses of patients with severe EGPA over 6 months were retrospectively investigated and compared between patients treated with high-dose corticosteroid (CS) plus MPZ therapy (MPZ group, n = 7) and those treated with high-dose CS plus intravenous cyclophosphamide (IVCY) pulse therapy (IVCY group, n = 13). The primary endpoints were the MPZ retention rate and the IVCY completion rate. The secondary endpoints were adverse events and changes in the Birmingham Vasculitis Activity Score (BVAS), Vascular Damage Index (VDI), eosinophil counts, and concomitant CS doses, and the extent and rates of these changes were compared between the MPZ and IVCY groups.

Results

Regarding the primary endpoints, the MPZ retention rate was 100%, and the IVCY completion rate was 61.5%. Regarding the secondary endpoints, adverse events were detected in 2/7 patients (28.6%) in the MPZ group and 7/13 patients (53.8%) in the IVCY group. BVAS and eosinophil counts significantly decreased in both groups at and after month 1, but there was no significant difference in the magnitude of changes between the two groups. VDI scores did not significantly increase in either group, and the degree of changes did not significantly differ between the two groups. Although concomitant CS doses significantly decreased at and after month 1 in both groups, the rates of decrease in CS doses at and after month 3 were significantly higher in the MPZ group.

Conclusions

This study suggested that the use of MPZ as remission induction therapy for severe EGPA might be safe and effective for controlling disease activity and reducing CS doses.
Post-COVID syndrome and adults with intellectual disability: another vulnerable population forgotten?
Authors: Shankar Rohit , Perera Bhathika , Roy Ashok , Courtenay Ken , Laugharne Richard , Sivan Manoj
Published: June 2022

An area of interest presently is the lingering symptoms after COVID-19, i.e. post-COVID-19 syndrome (PCS). Specifics of diagnosis and management of PCS are emerging. However, vulnerable populations such as those with intellectual disabilities, who were disproportionately affected by the pandemic, risk being ‘left behind’ from these considerations.
Intraoperative radiation therapy for locally advanced and recurrent head and neck cancer.
Authors: Chiodo Celina , Gros Sébastien , Lee Brian , Block Alec Michael , Emami Bahman , Small William , Refaat Abdelrhman Tamer
Published: June 2022

6058

Background: Intraoperative Radiation Therapy (IORT) allows precise delivery of radiation therapy (RT) to a limited target area at high risk of cancer recurrence while minimizing RT to nearby organs at risk. IORT may be particularly beneficial for patients with locally recurrent head and neck cancer (HNC) in a previously irradiated field and for locally advanced HNC cases, in which obtaining negative surgical margins may be difficult. This study aims to present a single institution experience with IORT for HNC patients. Methods: This study included HNC patients treated consecutively with IORT at our institution between 2014 and 2018. Charts were reviewed for patients’ and tumors’ characteristics, IORT technical details, IORT-induced adverse events, and treatment outcomes. Results: The study included 23 eligible patients. Median patient age was 66 (range 33-91). Tumor sites included parotid gland (43%), lymph nodes (43%), oral tongue (9%), and ear (4%). 52% of patients received IORT upfront with or without postoperative adjuvant external beam radiation therapy (EBRT), while 48% received salvage IORT after local tumor recurrence. The median prescribed IORT dose was 7.5 Gy (range 5-14 Gy) in a single fraction prescribed to 5 mm depth with Flat applicators (median diameter of 5 cm). 92% of patients did not experience wound healing complications. One patient (4%) developed postoperative acute thromboembolic stroke, a second patient (4%) experienced protracted wound healing. At a median follow-up of 36 months (range 2-81), 42% of patients presented with no evidence of disease (NED), overall survival was 54%, 13% of patients were alive with disease, and 46% died with disease. Local-regional recurrence rate was 39% (median time to local recurrence was 18 months, range 2-60), rate of distant metastasis was 43% (median time to distant metastasis was 23 months, range 5-60), and 30% of patients had both local-regional recurrence and distant metastases. The percent of local-regional recurrence and distant metastases among patients receiving salvage IORT was 64% and 73% respectively, compared to 23%, and 15% respectively in those receiving upfront IORT with or without adjuvant EBRT. Conclusions: In this single institution chart review study, IORT to locally advanced and recurrent HN cancer patients was a safe treatment modality, with tumor control comparable to historical EBRT data. Larger prospective studies are needed to further assess the utility of IORT in the management of locally advanced and recurrent HN cancer.
Camrelizumab plus apatinib as induction therapy for locally advanced head and neck squamous cell carcinoma (IMplus): A single-arm phase II study.
Authors: Ye Lulu , Zhang Lin , Li Rongrong , Dou Shengjin , Jiang Wen , Zhu Guopei
Published: June 2022

6060

Background: Immune checkpoint inhibitor combined with antiangiogenic agent has been investigated in many solid tumors, including advanced head and neck squamous cell carcinoma (HNSCC; NCT02501096), but the evidence is limited. This study was conducted to investigate the efficacy and safety of anti-programmed cell death-1 antibody camrelizumab plus antiangiogenic agent apatinib as induction therapy in patients with locally advanced HNSCC. Methods: In this single-center phase II trial (NCT04440917), patients with untreated locally advanced HNSCC who had inoperable lesions, could not tolerate surgery, or refused surgery were enrolled. Patients received camrelizumab 200 mg once every 2 weeks and apatinib 250 mg once daily for two 28-day cycles, followed by local treatment based on the re-examination results. The primary endpoint was objective response rate (ORR) after induction therapy, as assessed according to the Response Evaluation Criteria In Solid Tumors version 1.1. Simon’s two-stage design was adopted for this study. Results: Between December 2019 and July 2021, 18 patients were enrolled in the first stage. Eight (44%) patients had oropharyngeal carcinoma, nine (50%) had oral carcinoma, and one (6%) had hypopharyngeal carcinoma. There were six (33%), three (17%), and nine (50%) patients with stage III, IVA, and IVB disease, respectively. After induction therapy, six patients achieved complete response, nine achieved partial response, and three had stable disease, with an ORR of 83%. The study proceeded to the second stage and the enrollment for another 14 patients is ongoing. Two (11%) patients with partial response received surgery and adjuvant radiotherapy, and 16 (89%) received radical radiotherapy. With a median follow-up duration of 18 months (range, 9-26), only one disease recurrence and no deaths occurred. The most common adverse events during induction therapy were hypertension (ten [56%]), oral pain (nine [50%]), and increased aspartate aminotransferase (five [28%]). Only one [6%] grade 3 hypertension and one [6%] grade 3 proteinuria were observed, and no grade 4 or 5 adverse events occurred. Conclusions: Camrelizumab plus apatinib showed promising antitumor activity as induction therapy in patients with locally advanced HNSCC, with acceptable safety profile. Clinical trial information: NCT04440917.