bluuebunny/crossref_metadata_2025_split huggingface dataset:
Multi-system inflammatory syndrome in children during the coronavirus disease 2019 in Saudi Arabia
Authors: Asseri Ali A. , AlHelali Ibrahim , Elbastawisi Emad , Ali Abdelwahid S. , Al-Qahtani Saleh M. , Shati Ayed A. , Awadalla Nabil J. 
Published: June 2021

Abstract
Most of the reports about severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in children reported mild-to-moderate disease manifestations. However, recent reports explored a rare pediatric multisystem syndrome possibly associated with SARS-CoV-2 infection termed multisystem inflammatory syndrome in children (MIS-C).
The study prospectively enrolled 5 patients with clinical and laboratory evidence of MIS-C associated with SARS-CoV-2 infection. They were admitted to the pediatric intensive care unit (PICU). Their clinical presentation, laboratory, and outcome were described.
All patients shared similar clinical presentations such as persistent documented fever for more than 3 days, respiratory symptoms, gastrointestinal involvement, and increased inflammatory markers (CRP, ESR, and ferritin). Three patients had concurrent positive coronavirus disease 2019 (COVID-19) infection, and the other 2 patients had contact with suspected COVID-19 positive patients. They were all managed in the PICU and received intravenous immunoglobulin, systemic steroid, and hydroxychloroquine. The hospital stays ranged between 3 and 21 days. One patient died due to severe multiorgan failures and shock, and the other 4 patients were discharged with good conditions.
Pediatric patients with SARS–CoV-2 are at risk for MIS-C. MIS-C has a spectrum of clinical and laboratory presentations, and the clinicians need to have a high index of suspicion for the diagnosis and should initiate its early treatment to avoid unfavorable outcomes. Long-term follow-up studies will be required to explore any sequelae of MIS-C, precisely the cardiovascular complications.
Persistent anterior tunica vasculosa lentis in multisystemic smooth muscle dysfunction syndrome
Authors: She Kaiqin , Liang Licong , Lu Fang 
Published: June 2021

Abstract

Rationale:
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a genetic disease that affects multiple organs. The report here concerns a patient with MSMDS, who is known so far as the youngest among all the reported patients. In addition to the typical manifestations, we observed previously unreported ocular abnormalities, including persistent anterior tunica vasculosa lentis (TVL) and early-onset retinal arteriolar tortuosity, by the fluorescein angiography (FA).

Patient concerns:
The patient was admitted to the neonatal intensive care unit immediately after birth for a diagnosis of urinary system dysplasia during fetal life. After a thorough examination, the patient was found with patent ductus arteriosus, pulmonary hypertension, cerebrovascular disease, hypotonic bladder, intestinal malrotation, and congenital mydriasis. The FA of the eyes undertaken in her 6-week demonstrated perfused vasculature in the persistent anterior TVL and prominent retinal arteriolar tortuosity. The whole exome sequencing revealed a de novo heterozygous ACTA2 gene missense mutation p.R179H.

Diagnoses:
The patient was diagnosed with MSMDS.

Interventions:
Follow-up observation.

Outcomes:
At the 3-month follow-up, no change of the ocular disease was observed.

Lessons:
The persistent anterior TVL in this case implies that ACTA2 p.R179H mutation affects not only the smooth muscle cells but also the pericytes, and further affects the TVL regression. The prominent retinal arteriolar tortuosity in this 6-week-old infant indicates that the retinal arteriolar tortuosity can present early in MSMDS.
Gender difference in metabolic syndrome and incident colorectal adenoma
Authors: Ku Mei-Sheng , Chiu Sherry Yueh-Hsia , Chien Kuo-Liong , Lee Yi-Chia , Chen Sam Li-Sheng , Chen Chih-Dao 
Published: June 2021

Abstract
This community-based study aimed to elucidate whether there is a gender difference in the effect of metabolic syndrome (MetS) and its individual components on an elevated risk for incident colorectal adenoma.
A prospective cohort study was conducted by enrolling 59,767 subjects aged 40 years or older between 2001 and 2009 in Keelung, Taiwan, to test this hypothesis, excluding those with a prior history of colorectal cancer and those with colorectal cancer diagnosed at the first screening. Cox proportional hazards regression models were used to assess the effect of MetS in terms of a dichotomous classification, each individual component and the number of components for males and females.
Colorectal adenoma was present in 2.7% (n = 652) of male participants and 1.1% (n = 403) of female participants. The prevalence rate of MetS was 26.7% and 23.3% for males and females, respectively. The effect of MetS on colorectal adenoma was statistically significant and similar for the 2 genders, with an adjusted hazard ratio (aHR) of 1.33 (95% CI: 1.13–1.58) in males and 1.33 (95% CI: 1.06–1.66) in females after adjustment for confounders. However, MetS led to higher risk of advanced colorectal adenoma in men than in women. Regarding the effect of each component of MetS on colorectal adenoma, abnormal waist circumference and hypertriglyceridemia led to an elevated risk of colorectal adenoma in both genders. A rising risk of colorectal adenoma among females was noted in those with a moderately higher level of glycemia (100–125 mg/dL, aHR = 1.44, 95% CI: 1.12–1.85). Hypertriglyceridemia and high blood pressure were associated with an increased risk of advance colorectal adenoma in males.
Both male and female subjects with MetS had a higher risk of colorectal adenoma. The contributions from individual components of MetS varied by gender. These findings suggest that the possible risk reduction of colorectal adenoma through metabolic syndrome-based lifestyle modifications may differ between genders.
Serum IL-6 and procalcitonin are two promising novel biomarkers for evaluating the severity of COVID-19 patients
Authors: Tang Jinsong , Lin Jingtao , Zhang Erying , Zhong Mengru , Luo Yong , Fu Yong , Yang Yewei 
Published: June 2021

Abstract
To evaluate the development of coronavirus disease 2019 (COVID-19), the roles of interleukin 6 (IL-6) and procalcitonin (PCT) were assessed to diagnose severe COVID-19.
Between January and February 2020, 100 consecutive patients with confirmed COVID-19 were included and divided into common (n = 56), severe (n = 28), and critical (n = 16) groups.
IL-6 and PCT levels were assayed and compared among groups. IL-6 levels were significantly different among groups (common, 23.93±9.64 pg/mL; severe, 69.22 ± 22.98 pg/mL; critical, 160.34 ± 26.15 pg/mL; P < .05), and there was also a significant difference in the levels of PCT among groups (common, 0.23 ± 0.13 ng/mL; severe, 0.38 ± 0.16 ng/mL; critical, 0.73 ± 0.36 ng/mL; P < .05). Further analysis showed that patients in the critical group had the highest levels of IL-6 and PCT, and those in the common group had the lowest levels (all P < .05).
IL-6 and PCT are associated with the severity of COVID-19, and thus have potential value in the diagnosis of COVID-19.
Admixed phenotype of NEDD4L associated periventricular nodular heterotopia
Authors: Pecimonova Martina , Radvanszky Jan , Smolak David , Budis Jaroslav , Lichvar Michal , Kristinova Diana , Rozova Ivica , Turna Jan , Szemes Tomas 
Published: June 2021

Abstract

Rationale:
Periventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improper neuronal migration during neurogenesis in cortex development caused by pathogenic variants in the NEDD4L gene.

Patient concerns:
We report the case of a polystigmatized 2-year-old boy having significant symptomatologic overlap with PVNH7, such as delayed psychomotor and mental development, seizures and infantile spasms, periventricular nodular heterotopia, polymicrogyria, cleft palate, 2 to 3 toe syndactyly, hypotonia, microretrognathia, strabismus, and absent speech and walking. The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue sclerae, hydronephrosis, transversal palmar crease (found also in their father), and bilateral talipes equinovarus. In addition, the patient suffered from many other symptoms.

Diagnoses:
The boy, his brother and their parents were subjected to whole-exome sequencing. Because of uncertainties in symptomatology and inheritance pattern, the top-down approach was hard to apply. Using the bottom-up approach, we identified a known pathogenic variant, NM_001144967.2(NEDD4L):c.2677G>A:p.Glu893Lys, in the proband's genome that absented in any other analyzed family member, suggesting its de novo origin.

Interventions and outcomes:
The patient was treated with Convulex 300 mg/mL for the successful seizure control and Euthyrox 25mg for the treatment of thyroid malfunction. He also took various supplements for the metabolism support and digestion regulation. Moreover, the patient underwent the corrective surgeries of cleft palate and talipes equinovarus.

Lessons:
We successfully identified the causative mutation NM_001144967.2(NEDD4L):c.2677G>A:p.Glu893Lys explaining symptoms overlapping those reported for PVNH7. Symptoms shared with the brother were not explained by this variant, since he was not a carrier of the pathogenic NEDD4L variant. These are most likely not extended phenotypes of PVNH7, rather an independent clinical entity caused by a yet unidentified genetic factor in the family, highlighting thus the importance of thorough evaluation of symptomatology and genomic findings in affected and unaffected family members, when such data are available.
Efficacy and safety of adalimumab in hidradenitis suppurativa
Authors: Lu Jing-Wun , Huang Yu-Wen , Chen Tai-Li 
Published: June 2021

Abstract

Background:
Adalimumab is used as a first-line biologic agent in the management of moderate-to-severe hidradenitis suppurativa (HS). The objective of the present study was to evaluate the efficacy and safety of adalimumab in patients with moderate-to-severe HS.

Methods:
We performed a systematic review and meta-analysis according to Preferred Reporting Items for Systematic reviews and Meta-Analysis guidelines. Pooled estimates, namely standardized mean difference (SMD) and relative risk (RR), were calculated using random-effect model with trial sequential analysis. Small study effects were examined using the Doi plot. Certainty of evidence (CoE) was assessed using “The Grading of Recommendations Assessment, Development, and Evaluation” approach, and number-needed-to-treat (NNT) was calculated.

Results:
Five randomized controlled trials, involving 1014 patients, were included. We performed subgroup analysis of adalimumab administered subcutaneously both weekly and every other week. Adalimumab administered weekly was associated with better clinical response achievement (RR 1.76, 95% confidence interval [95% CI] 1.35–2.29; trial sequential analysis TSA-adjusted CI 1.01–3.08; CoE: low; NNT = 5) and a significant improvement in modified Sartorius score (SMD = −0.45, 95% CI = −0.76 to −0.13; CoE: very low; NNT = 10) and dermatology life quality index (DLQI) (SMD −0.47, 95% CI −0.61 to −0.32; CoE: low; NNT = 10). Nevertheless, adalimumab administered every other week showed an improvement only in modified Sartorius score. The pooled RRs of adverse events in both groups revealed no statistical significance when compared with the placebo.

Conclusions:
Adalimumab administered weekly resulted in not only better clinical responses than placebo but also significantly improved disease severity and quality of life of patients with moderate-to-severe HS. Our study provides supporting evidence to the current guidelines and aids decision-making in the application of adalimumab in HS management.
The new imaging findings
Authors: Kasai Yuichi , Mizuno Tetsutaro , Paholpak Permsak , Sirichativapee Winai , Fukui Mitsuru 
Published: June 2021

Abstract
Case-control studies by examining the lumbar spine computed tomography (CT) findings focusing on the spinous processes.
“Passing spine” was defined as a lumbar degenerative change observed on CT images. In contrast, kissing spine, which is also an image finding, has been acknowledged as an established clinical condition. Therefore, we compared the passing spine group and the kissing spine group to investigate whether the 2 groups belong to a similar disease group; this would help explain the clinical and imaging characteristics of patients with passing spine.
Previous studies have described the gradual increase in the height and thickness of the lumbar vertebral spinous processes that can occur in individuals aged >40 years, and reported that this progressive degeneration can lead to a condition termed “kissing spine.”
We examined the CT imaging of 373 patients with lumbar spinal disease and divided patients into 2 groups, the kissing spine (K) group and the passing spine (P) group, and compared the clinical (age, sex, presence/absence of lower extremity pain) and imaging data (localization of kissing or passing spine, intervertebral disc height at the level of kissing or passing spine, lumbar lordosis (LL) angle, presence/absence of vacuum phenomenon (VP) in the intervertebral discs and spondylolisthesis at the level of kissing or passing spine between the 2 groups.
Compared with patients with kissing spine, patients with passing spine had an increased incidence of lower extremity pain, lower intervertebral disc height at the level of passing spine, relatively static LL, and VP commonly observed in the intervertebral discs at the level of passing spine.
Because the clinical and imaging characteristics of patients with passing spine are different from those of patients with kissing spine, passing spine might be a pathological condition distinct from kissing spine.
The effects of dialysis modality choice on cognitive functions in patients with end-stage renal failure
Authors: Gao Tongbin , Ji Yongjian , Wang Yinghui 
Published: June 2021

Abstract

Background:
There is no published meta-analysis comparing the effects of dialysis modality choice on cognitive functions in patients with end-stage renal disease . Therefore, we perform a protocol for systematic review and meta-analysis to evaluate cognitive function in peritoneal dialysis versus hemodialysis patients.

Methods:
This protocol is conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Protocol (PRISMA-P) statement guidelines. Related articles were identified by searching Web of Science, Embase, PubMed, Wanfang Data, Medline, Science Direct, and Cochrane Library. The risk of bias assessment of the included articles was performed by two authors independently using the tool recommended in the Cochrane Handbook for Systematic Reviews of Interventions. All calculations were carried out with Stata 11.0 (The Cochrane Collaboration, Oxford, United Kingdom).

Results:
The results of this systematic review and meta-analysis will be published in a peer-reviewed journal.

Conclusion:
We hypothesized that patients on peritoneal dialysis demonstrated a lower odd of cognitive dysfunction compared to those on hemodialysis.

Open Science Framework registration number:
10.17605/OSF.IO/NWCZK
Feasibility of sit training for patients with severe COVID-19 pneumonia during deep sedation
Authors: Kinoshita Tokio , Umemoto Yasunori , Yasuoka Yoshinori , Yoshikawa Tatsuya , Kouda Ken , Hori Shinnosuke , Mikami Yukio , Nishimura Yukihide , Miyamoto Kyohei , Kato Seiya , Tajima Fumihiro 
Published: June 2021

Abstract

Rationale:
There have been a few reports on the early rehabilitation of patients with coronavirus disease (COVID-19), and none on the effectiveness and adverse events of early mobilization for mechanical ventilation patients (other than COVID-19) during deep sedation. This report indicates that sitting without adverse events is possible in patients with severe COVID-19 pneumonia during deep sedation with muscle relaxation.

Patient concerns:
A 65-year-old man with a history of diabetes mellitus, lacunar infarction, and Parkinson's disease was admitted to a local hospital for pneumonia due to COVID-19. After admission, the patient was managed on a ventilator under deep sedation with muscle relaxants and sedatives. Twelve days after admission, the patient was transferred to our hospital due to his worsening respiratory status.

Diagnosis:
Pneumonia due to COVID-19 was diagnosed using a polymerase chain reaction–dependent method.

Interventions:
The day following transfer, a physical therapist started passive range of motion training and sitting.

Outcomes:
The period spanning his initial rehabilitation to muscle relaxant medication interruption was 9 days, and he underwent 7 rehabilitation sessions. The patient was unable to sit during only one of the 7 sessions due to pre-rehabilitation hypoxemia. In 5 of the 6 sitting sessions, PaO2/FiO2 transiently decreased but recovered by the time of subsequent blood sampling. The patient's PaCO2 decreased during all sessions. His blood pressure did not drastically decrease in any sitting session, except the first. Sputum excretion via sputum suction increased during sitting, and peak inspiratory pressure did not change.

Lessons:
The patient eventually died of pneumonia due to COVID-19. However, sitting during deep sedation with muscle relaxants did not cause any serious adverse events nor did it appear to cause obvious negative respiratory effects.
Personalized ß-lactam dosing in patients with coronavirus disease 2019 (COVID-19) and pneumonia
Authors: Chiriac Ute , Frey Otto R. , Roehr Anka C. , Koeberer Andreas , Gronau Patrick , Fuchs Thomas , Roberts Jason A. , Brinkmann Alexander 
Published: June 2021

Abstract
Pathophysiological changes are important risk factors for critically ill patients with pneumonia manifesting sub-therapeutic antibiotic exposures during empirical treatment. The effect of coronavirus disease 2019 (COVID-19) on antibiotic dosing requirements is uncertain. We aimed to determine the effect of COVID-19 on ß-lactam pharmacokinetics (PK) and PK target attainment in critically ill patients with a personalized dosing strategy.
Retrospective, single-center analysis of COVID-19 ± critically ill patients with pneumonia (community-acquired pneumonia or hospital-acquired pneumonia) who received continuous infusion of a ß-lactam antibiotic with dosing personalized through dosing software and therapeutic drug monitoring. A therapeutic exposure was defined as serum concentration between (css) 4 to 8 times the EUCAST non-species related breakpoint).
Data from 58 patients with pneumonia was analyzed. Nineteen patients were tested COVID-19-positive before the start of the antibiotic therapy for community-acquired pneumonia or hospital-acquired pneumonia. Therapeutic exposure was achieved in 71% of COVID-19 patients (68% considering all patients). All patients demonstrated css above the non–species-related breakpoint. Twenty percent exceeded css above the target range (24% of all patients). The median ß-lactam clearance was 49% compared to ß-lactam clearance in a standard patient without a significant difference regarding antibiotic, time of sampling or present COVID-19 infection. Median daily doses were 50% lower compared to standard bolus dosing.
COVID-19 did not significantly affect ß-lactam pharmacokinetics in critically ill patients. Personalized ß-lactam dosing strategies were safe in critically ill patients and lead to high PK target attainment with less resources.
Insulin immunotherapy for pretype 1 diabetes
Authors: Jacobsen Laura M. , Schatz Desmond A. 
Published: June 2021

Purpose of review
Loss of tolerance to insulin likely contributes to the immunopathogenesis of type 1 diabetes (T1D). Several large clinical trials and smaller mechanistic studies have failed to demonstrate the efficacy of insulin antigen therapy. The growing awareness of the heterogeneity of T1D likely affects the response to various immune therapies including insulin. Identification of biomarkers of clinical response will provide further insight into mechanisms leading to the disease and classify responders in the quest for personalized therapy.

Recent findings
Several biomarkers have identified subpopulations in posthoc analyses that showed benefit from oral insulin even though the placebo-controlled study was as a whole unsuccessful. High insulin autoantibody titer, low first phase insulin response, and high Diabetes Prevention Trial-Type 1 Risk Score identify at-risk relatives more likely to benefit from oral insulin. Future incorporation of human leukocyte antigen and the variable number of tandem repeats polymorphism located in the insulin gene promoter (INS VNTR) is of interest for both primary and secondary prevention studies.

Summary
Although primary and secondary prevention trials using oral insulin are ongoing, those completed have been largely unsuccessful. However, we believe that oral insulin should be considered in future trials as part of combination therapies as prerandomization biomarker testing is refined.
Fibrosis scores that can be used in follow-up of after direct-acting antiviral treatment: APRI, FIB-4, King score and GUCI
Authors: Tahtasakal Ceren Atasoy , Oncul Ahsen , Sevgi Dilek Yildiz , Demirbas Duygu , Gunduz Alper , Dokmetas Ilyas 
Published: June 2021

Introduction
Sustained virologic response in the treatment of chronic hepatitis C can be achieved with direct-acting antivirals (DAA) in recent years. Monitoring virologic and histologic response to treatment is essential and noninvasive methods are preferred. In our study, we aimed to determine the regression of fibrosis following DAA treatment with serum fibrosis indices constituting a noninvasive method.

Method
Patients with chronic hepatitis C to whom DAA treatment is started between January 2016 and January 2018 in our clinic are evaluated retrospectively. The fibrosis scores [fibrosis 4 index (FIB-4), aminotransferase platelet ratio (APRI), Fibro QKing score, age platelet index, Goteburg University Cirrhosis Index (GUCI), aspartate transaminase/alanine transaminase ratio (AAR)] are calculated with routine biochemical and hematologic tests of DAA-treated patients before treatment, at the end of treatment, and in the 12th and 24th weeks of treatment. In total, the course of seven scores calculated at four separate times including baseline was recorded and compared.

Results
In total 91 patients are included in the study. The average age was 51.16 ± 13.78 and 59.3% (n = 54) of patients were women. According to the baseline FIB-4 values, the patients were grouped as cirrhotic or noncirrhotic, and 11 of them were cirrhotic (12.1%). Statistically significant regression in APRI, FIB-4, GUCI and King scores is seen in all groups regardless of their cirrhotic status, treatment experience or genotype (P < 0.001). Specified scores had a positive, significant correlation with pretreatment biopsy results [area under curve (AUC): 0.800, 0.782, 0.749 and 0.746].

Conclusion:
APRI, FIB-4, GUCI and King scores that have a positive correlation with biopsy can also be used for fibrosis recovery follow-up after treatment with DAAs.