bluuebunny/crossref_metadata_2025 huggingface dataset:
Adverse neonatal outcome and veno-arterial differences in umbilical cord blood pH (ΔpH) at birth: a population-based study of 108,629 newborns
Authors: Sundberg Tiia-Marie , Wiberg Nana , Källén Karin , Zaigham Mehreen
Published: March 2023

Background

Umbilical cord blood gases are routinely used by midwives and obstetricians for quality assurance of birth management and in clinical research. They can form the basis for solving medicolegal issues in the identification of severe intrapartum hypoxia at birth. However, the scientific value of veno-arterial differences in cord blood pH, also known as ΔpH, is largely unknown. By tradition, the Apgar score is frequently used to predict perinatal morbidity and mortality, however significant inter-observer and regional variations decrease its reliability and there is a need to identify more accurate markers of perinatal asphyxia. The aim of our study was to investigate the association of small and large veno-arterial differences in umbilical cord pH, ΔpH, with adverse neonatal outcome.

Methods

This retrospective, population-based study collected obstetric and neonatal data from women giving birth in nine maternity units from Southern Sweden from 1995 to 2015. Data was extracted from the Perinatal South Revision Register, a quality regional health database. Newborns at ≥37 gestational weeks with a complete and validated set of umbilical cord blood samples from both cord artery and vein were included. Outcome measures included: ΔpH percentiles, ‘Small ΔpH’ (10th percentile), ‘Large ΔpH’ (90th percentile), Apgar score (0–6), need for continuous positive airway pressure (CPAP) and admission to neonatal intensive care unit (NICU). Relative risks (RR) were calculated with modified Poisson regression model.

Results

The study population comprised of 108,629 newborns with complete and validated data. Mean and median ΔpH was 0.08 ± 0.05. Analyses of RR showed that ‘Large ΔpH’ was associated with a decreased RR of adverse perinatal outcome with increasing UApH (at UApH ≥7.20: RR for low Apgar 0.29, P = 0.01; CPAP 0.55, P = 0.02; NICU admission 0.81, P = 0.01). ‘Small ΔpH’ was associated with an increased RR for low Apgar score and NICU admission only at higher UApH values (at UApH 7.15–7.199: RR for low Apgar 1.96, P = 0.01; at UApH ≥7.20: RR for low Apgar 1.65, P = 0.00, RR for NICU admission 1.13, P = 0.01).

Conclusion

Large differences between cord venous and arterial pH (ΔpH) at birth were associated with a lower risk for perinatal morbidity including low 5-minute Apgar Score, the need for continuous positive airway pressure and NICU admission when UApH was above 7.15. Clinically, ΔpH may be a useful tool in the assessment of the newborn’s metabolic condition at birth. Our findings may stem from the ability of the placenta to adequately replenish acid-base balance in fetal blood. ‘Large ΔpH’ may therefore be a marker of effective gas exchange in the placenta during birth.
Overall childbirth experience: what does it mean? A comparison between an overall childbirth experience rating and the Childbirth Experience Questionnaire 2
Authors: Viirman Frida , Hesselman Susanne , Poromaa Inger Sundström , Svanberg Agneta Skoog , Wikman Anna
Published: March 2023

Background

In clinical settings and research studies, childbirth experience is often measured using a single-item question about overall experience. Little is known about what women include in this rating, which complicates the design of adequate follow-up, as well as the interpretation of research findings based on ratings of overall childbirth experience. The aim of this study was to examine which known dimensions of childbirth experience women include in the rating on a single-item measure.

Methods

Ratings of overall childbirth experience on a 10-point numeric rating scale (NRS) from 2953 women with spontaneous or induced onset of labour at two Swedish hospitals were evaluated against the validated Childbirth Experience Questionnaire 2 (CEQ2), completed on one of the first days postpartum. The CEQ2 measures four childbirth experience domains:own capacity, perceived safety, professional supportandparticipation.Internal consistency for CEQ2 was evaluated by calculating Cronbach’s alpha. NRS ratings were explored in relation to CEQ2 using empirical cumulative distribution function graphs, where childbirth experience was defined as negative (NRS ratings 1–4), mixed (NRS ratings 5–6) or positive (NRS ratings 7–10). A multiple linear regression analysis, presented as beta coefficients (B) and 95% confidence intervals (CI), was also performed to explore the relationship between the four domains of the CEQ2 and overall childbirth experience.

Results

The prevalence of negative childbirth experience was 6.3%. All CEQ2-subscales reached high or acceptable reliability (Cronbach’s alpha = 0.78; 0.81; 0.69 and 0.66, respectively). Regardless of overall childbirth experience, the majority of respondents scored high on the CEQ2 subscale representingprofessional support.Overall childbirth experience was mainly explained byperceived safety(B = 1.60, CI 1.48–1.73), followed byown capacity(B = 0.65, CI 0.53–0.77) andparticipation(B = 0.43, CI 0.29–0.56).

Conclusions

In conclusion, overall childbirth experience rated by a single-item measurement appears to mainly capture experiences ofperceived safety,and to a lesser extentown capacityandparticipation, but appears not to reflectprofessional support. CEQ2 shows good psychometric properties for use shortly after childbirth, and among women with induced onset of labour, which increases the usability of the instrument.
Patient-guided dose reduction of tyrosine kinase inhibitors in chronic myeloid leukaemia (RODEO study): study protocol for a prospective, multicentre, single-arm trial
Authors: Djodikromo Melissa F , Hermens Rosella PMG , Bemt Bart JF van den , Smit Yolba , Govers Tim M , Bekker Charlotte L , Blijlevens Nicole MA
Published: March 2023

Background

Dose reduction of tyrosine kinase inhibitors (TKI) in patients with chronic myeloid leukaemia (CML) with an optimal response to TKIs may support cost-effective medication use by maintaining therapeutic effectiveness while reducing adverse events and medication costs. As the choice for dose reduction depends on patients’ individual needs and preferences, a patient-centred approach is warranted. Therefore, a study to evaluate the effectiveness of patient-guided dose reduction in patients with CML who are in a major or deep molecular response is designed.

Methods

This study is a prospective, multicentre, single-arm study. 147 patients with CML (aged ≥ 18 years) in chronic phase, who are treated with imatinib, bosutinib, dasatinib, nilotinib or ponatinib, and have reached at least major molecular response (defined as having BCR-ABL levels < 0.1% for an uninterrupted period of 6 months) are eligible. Patients will use an online patient decision aid and a shared decision making consultation will be held, after which patients who choose to will receive a personalised, lower TKI dose. Primary outcome is the proportion of patients with intervention failure at 12 months after dose reduction, defined as patients who have restarted their initial dose due to (expected) loss of major molecular response. For this, BCR-ABL1 levels will be analysed from blood samples drawn at baseline, 6 weeks after dose reduction and 3-monthly thereafter. Secondary outcomes include the proportion of patients with intervention failure at 6 and 18 months after dose reduction. Other outcomes include differences before and after dose reduction regarding the number and severity of patient-reported side effects; quality of life; beliefs about medicines; and medication adherence. Patients’ level of decisional conflict and regret after choosing dose reduction will be assessed, as will the decisional process experienced by patients and healthcare providers.

Discussion

Outcomes of this trial using a personalised approach will provide clinical and patient-reported data to guide future dose reduction of TKIs in CML. If the strategy appears to be effective, it may be implemented as another valid option to offer next to standard of care to prevent potential unnecessary exposure to higher TKI doses in this selected group of patients.

Trial registration

EudraCT number 2021-006581-20.
TUBA1C: a new potential target of LncRNA EGFR-AS1 promotes gastric cancer progression
Authors: Wang Haodong , Cui Huaiping , Yang Xinjun , Peng Lipan
Published: March 2023

Background

The lack of obvious symptoms of early gastric cancer (GC) as well as the absence of sensitive and specific biomarkers results in poor clinical outcomes. Tubulin is currently emerging as important regulators of the microtubule cytoskeleton and thus have a strong potential to be implicated in a number of disorders, however, its mechanism of action in gastric cancer is still unclear. Tubulin alpha-1 C (TUBA1C) is a subtype of α-tubulin, high TUBA1C expression has been shown to be closely related to a poor prognosis in various cancers, this study, for the first time, revealed the mechanism of TUBA1C promotes malignant progression of gastric cancer in vitro and in vivo.

Methods

The expression of lncRNA EGFR-AS1 was detected in human GC cell lines by qRT–PCR. Mass spectrometry experiments following RNA pulldown assays found that EGFR-AS1 directly binds to TUBA1C, the CCK8, EdU, transwell, wound-healing, cell cycle assays and animal experiments were conducted to investigate the function of TUBA1C in GC. Combined with bioinformatics analyses, reveal interaction between Ki-67, E2F1, PCNA and TUBA1C by western blot. Rescue experiments furtherly demonstrated the relationship of EGFR-AS1and TUBA1C.

Results

TUBA1C was proved to be a direct target of EGFR-AS1, and TUBA1C promotes gastric cancer proliferation, migration and invasion by accelerating the progression of the cell cycle from the G1 phase to the S phase and activating the expression of oncogenes: Ki-67, E2F1 and PCNA.

Conclusion

TUBA1C is a new potential target of LncRNA EGFR-AS1 promotes gastric cancer progression and could be a novel biomarker and therapeutic target for GC.
A novel cuproptosis-related gene signature to predict prognosis in Glioma
Authors: Zhang Mengyang , Liu Xiaobai , Wang Di , Ruan Xuelei , Wang Ping , Liu Libo , Xue Yixue
Published: March 2023

Glioma is primary brain tumour with a poor prognosis. Metabolic reprogramming is a hallmark of glioma, and is critical in the development of antiglioma agents and glioma therapy. Cuproptosis is a novel form of cell death mediated by protein lipidation and highly associated with mitochondrial metabolism. However, the clinical impact of cuproptosis-related genes (CRGs) in glioma remains largely unknown. The purpose of this study is to create a new CRGs signature that can be used to predict survival and immunotherapy in glioma patients. LASSO regression analysis was applied to establish prognostic gene signatures. Furthermore, a CRGs signature-based nomogram was developed and demonstrated good predictive potential. We also analyzed the relationship of CRGs and immune infiltration and the correlation with the pathological grade of glioma. Finally, we explored the miRNA that may regulate cuproptosis-related gene FDX1. We found that miR-606 was markedly downregulated in GBM, overexpression of miR-606 can significantly inhibit aerobic glycolysis and proliferation of GBM cells. FDX1 was upregulated in GBM, knockdown of FDX1 significantly inhibit aerobic glycolysis and proliferation of GBM cells. And luciferase assay was used to verified that miR-606 binds to and regulates FDX1 mRNA. These results provide a basis for further exploring the biological mechanisms of cuproptosis. This study may provide new potential therapeutic perspectives for patients with glioma.
Distribution and prognostic impact of EGFR and KRAS mutations according to histological subtype and tumor invasion status in pTis-3N0M0 lung adenocarcinoma
Authors: Ito Masaoki , Miyata Yoshihiro , Kushitani Kei , Ueda Daisuke , Takeshima Yukio , Okada Morihito
Published: March 2023

Background

The prognostic impact of EGFR mutation as major targetable somatic gene variant on lung adenocarcinoma is controversial. KRAS is another major somatic variant in lung adenocarcinoma, and a therapeutic agent for KRAS G12C became available in clinical settings. These mutations represent clinicopathological features of lung adenocarcinoma and can guide the treatment choice after recurrence. We evaluated the prognostic impact of EGFR and KRAS mutations by considering other clinicopathological recurrence risks in resected pTis-3N0M0 lung adenocarcinoma.

Methods

Clinicopathological features related to recurrence and genetic status were estimated in consecutive 877 resected cases. Recurrence-free survival (RFS), cumulative recurrence rate (CRR), and overall survival (OS) were compared. Uni- and multivariate analyses for RFS were performed after excluding cases with little or no recurrence risks.

Results

EGFR mutation was more likely to be harbored in female, never-smoker, or patients accompanied by > 5% lepidic component. KRAS mutation was more likely to be harbored in patients with current/ex-smoking history, International Association for the Study of Lung Cancer (IASLC) grade 3, or accompanied lymphatic or vascular invasion. In IASLC grade 2 and 3 patients, EGFR or KRAS mutation cases had significantly worse 5-year RFS than wild type patients (76.9% vs. 85.0%, hazard ratio [HR] = 1.55, 95% confidence interval [CI] = 1.62–6.41, P < 0.001). EGFR or KRAS mutation cases had significantly higher 5-year CRR than wild type patients (17.7% vs. 9.8%, HR = 1.69, 95% CI = 1.44–6.59, P = 0.0038). KRAS mutation cases had higher 5-year CRR than EGFR mutation cases (16.7% vs. 21.4%, HR = 1.62, 95% CI = 0.96–7.19, P = 0.061). There was no significant difference in OS between cohorts. Multivariate analysis revealed that a positive EGFR/KRAS mutation status was risk factor for worse RFS (HR = 2.007, 95% CI = 1.265–3.183, P = 0.003).

Conclusion

Positive EGFR and KRAS mutation statuses were risk factors for recurrence in resected IASLC grade 2 and 3 patients. KRAS mutations were more likely to be confirmed in cases with an increased risk of recurrence. EGFR and KRAS mutation statuses should be evaluated simultaneously when assessing the risk of recurrence.
Interaction between PD-L1 and soluble VEGFR1 in glioblastoma-educated macrophages
Authors: Liu Xin , Li Zhenke , Sun Jinxing , Zhang Zhijie , Li Weiguo
Published: March 2023

Purpose

The combined application of immune checkpoint inhibitors (ICIs) and anti-angiogenesis therapy has shown synergistic effects on glioblastoma (GBM). As important resources of PD-L1 in the tumor microenvironment (TME), tumor-associated macrophages (TAMs) have significant impact of the efficiency of ICIs. However, the effects of anti-angiogenesis agents on immune checkpoints expression are not fully understood.

Method

GBM-educated macrophages were generated from circulating monocytes of healthy controls and GBM patients under the education of GBM cell line. Surface expression of PD-L1 and VEGFR1 on GBM-educated macrophages was analyzed. VEGFR1 NAb and soluble VEGFR1 (sVEGFR1) were added and their effects on PD-L1 expression on TAMs was investigated. Serum soluble PD-L1 (sPD-L1) and sVEGFR1 levels in GBM patients were measured and their correlation was analyzed.

Result

The expression intensity of PD-L1 on GBM-educated macrophages was higher and its up-regulation partially depends on VEGFR1 signaling pathway. GBM-educated macrophages secreted less levels of soluble VEGFR1 (sVEGFR1), and exogenous sVEGFR1 down-regulated PD-L1 expression intensity. PD-L1 blockade promoted the secretion of sVEGFR1. Finally, sVEGFR1 and sPD-L1 in serum of GBM patients were overexpressed, and a positive correlation was found.

Conclusion

These findings reveal the interaction between PD-L1 and VEGFR1 signaling pathway in GBM-educated macrophages. VEGFR1 is involved with PD-L1 overexpression, which can be impeded by autocrine regulation of sVEGFR1. sVEGFR1 secretion by GBM-educated macrophages can be promoted by PD-L1 blockade. Taken together, these findings provide evidences for the combined application of ICIs and anti-angiogenesis therapies in the treatment of GBM.
Aberrant lncRNA expression in patients with proliferative diabetic retinopathy: preliminary results from a single-center observational study
Authors: Zeng Lan , Zhou Minwen , Wang Xiaocong , Long Xiaofeng , Ye Meng , Yuan Yuan , Tan Wei
Published: March 2023

Background

Diabetic retinopathy (DR) is a leading cause of blindness. Vision threat is particularly severe in patients with retinal neovascularization. However, little is known about the role of long noncoding RNAs (lncRNAs) in proliferative diabetic retinopathy (PDR). The goal of this study was to identify lncRNAs involved in PDR.

Methods

We compared lncRNA expression profiles in the vitreous between patients with PDR and those with idiopathic macular hole (IMH) and between patients with PDR who had received anti-vascular endothelial growth factor (VEGF) therapy and those who had not. Vitreous samples from patients with PDR and IMH were screened for lncRNAs using microarray-based analysis, and quantitative real-time polymerase chain reaction (qRT-PCR) was used to confirm the microarray results. Bioinformatic analysis was also performed. Moreover, the effect of anti-VEGF therapy was investigated in vitreous samples of patients with PDR treated with anti-VEGF therapy and those who were not.

Results

A total of 1067 differentially expressed noncoding RNA transcripts were found during screening in the vitreous humor of patients with PDR than in those with IMH. Five lncRNAs were subjected to qRT-PCR. RP11-573 J24.1, RP11-787B4.2, RP11-654G14.1, RP11-2A4.3, and RP11-502I4.3 were significantly downregulated; this was validated by the comparison using the microarray data. In addition, 835 differentially expressed noncoding RNA transcripts were found during screening in the vitreous humor of patients with PDR treated with anti-VEGF therapy compared with untreated PDR patients. RP4-631H13.2 was significantly upregulated, which is consistent with the trend of the microarray analysis.

Conclusions

There were systemic expression differences in the vitreous at the microarray level between patients with PDR and those with IMH and between patients with PDR after anti-VEGF treatment and those that did not receive anti-VEGF treatment. LncRNAs identified in the vitreous humor may be a novel research field for PDR.
Diabetic retinopathy screenings in West Virginia: an assessment of teleophthalmology implementation
Authors: Schofield Travis , Patel Ami , Palko Joel , Ghorayeb Ghassan , Laxson L. Carol
Published: March 2023

Background

The prevalence of diabetes in the state of West Virginia (WV) is amongst the highest in the United States, making diabetic retinopathy (DR) and diabetic macular edema (DME) a major epidemiological concern within the state. Several challenges exist regarding access to eye care specialists for DR screening in this rural population. A statewide teleophthalmology program has been implemented. We analyzed real-world data acquired via these systems to explore the concordance between image findings and subsequent comprehensive eye exams and explore the impact of age on image gradeability and patient distance from the West Virginia University (WVU) Eye Institute on follow-up.

Methods

Nonmydriatic fundus images of diabetic eyes acquired at primary care clinics throughout WV were reviewed by retina specialists at the WVU Eye Institute. Analysis included the concordance between image interpretations and dilated examination findings, hemoglobin A1c (HbA1c) levels and DR presence, image gradeability and patient age, and distance from the WVU Eye Institute and follow-up compliance.

Results

From the 5,512 fundus images attempted, we found that 4,267 (77.41%) were deemed gradable.  Out of the 289 patients whose image results suggested DR, 152 patients (52.6%) followed up with comprehensive eye exams—finding 101 of these patients to truly have DR/DME and allowing us to determine a positive predictive value of 66.4%. Patients within the HbA1c range of 9.1-14.0% demonstrated significantly greater prevalence of DR/DME (p < 0.01).  We also found a statistically significant decrease in image gradeability with increased age.  When considering distance from the WVU Eye Institute, it was found that patients who resided within 25 miles demonstrated significantly greater compliance to follow-up (60% versus 43%, p < 0.01).

Conclusions

The statewide implementation of a telemedicine program intended to tackle the growing burden of DR in WV appears to successfully bring concerning patient cases to the forefront of provider attention.  Teleophthalmology addresses the unique rural challenges of WV, but there is suboptimal compliance to essential follow-up with comprehensive eye exams. Obstacles remain to be addressed if these systems are to effectively improve outcomes in DR/DME patients and diabetic patients at risk of developing these sight-threatening pathologies.
Effects of atropine and tropicamide on ocular biological parameters in children: a prospective observational study
Authors: Tao Yulin , Li Mohan , Tan Jian , Huang Jing , Cheng Xiaokang , Xie Ping , Liu Xiansheng , Zhou Qiong , Ouyang Jun
Published: March 2023

Background

The effectiveness of cycloplegia in delaying the progression of myopia and its application in refractive examination in children have been extensively studied, but there are still few studies on the effects of atropine/tropicamide on ocular biological parameters. Therefore, the purpose of this study was to explore the effects of atropine/tropicamide on children's ocular biological parameters in different age groups and the differences between them.

Methods

This was a prospective observational study in which all school children were examined for dioptres and ocular biological parameters in the outpatient clinic, and 1% atropine or tropicamide was used for treatment. After examination, we enrolled the patients grouped by age (age from 2 to 12 years treated by atropine, 55 cases; age from 2 to 10 years treated by tropicamide, 70 cases; age from 14 to 17 years treated by tropicamide, 70 cases). The ocular biological parameters of each patient before and after cycloplegia were measured, and the difference and its absolute value were calculated for statistical analysis using an independent-samples t test.

Results

We compared the value and the absolute value of the differences in ocular biological parameters before and after cycloplegia in the same age group, and we found that the differences were not statistically significant (P > 0.05). There were significant differences in the corresponding values of AL, K1 and ACD among the different age groups (P < 0.05). Before cycloplegia, there were significant differences in AL, K, K1, K2 and ACD in different age groups (P < 0.05). However, the differences in AL, K, K1, K2 and ACD among different age groups disappeared after cycloplegia (P > 0.05).

Conclusions

This study demonstrated that atropine/tropicamide have different effects on cycloplegia in children of different ages. The effects of atropine/tropicamide on ocular biological parameters should be fully considered when evaluating the refractive state before refractive surgery or mydriasis optometry for children of different ages.
A physical sign of pathological myopia: myopic scleral pit
Authors: Zhang Wenhua , Zhang Yaping , Xu Jingxuan , Dan Handong , Li Xiaoli , Song Zongming
Published: March 2023

Purpose

Myopic scleral pit (MSP) is a rare physical sign of pathological myopia (PM). The aim of this study was to summarize the clinical characteristics of MSP and analyze its correlation with PM.

Methods

Eight cases with PM and MSP were enrolled in this study. Comprehensive ophthalmic examinations, including subjective refraction, slit-lamp biomicroscope, intraocular pressure, fundus photographs, A- and B-scan ultrasonography and spectral-domain optical coherence tomography, were performed.

Results

All the patients had a long history of PM with visual impairment, long axial length, and myopia-related fundus degeneration. Mean axial length was 31.48 ± 2.17 mm. Mean size of MSP was 0.69 ± 0.29 optic disc diameter (PD). Mean logMAR BCVA was 1.21 ± 0.88 logMAR. Spearman correlation analysis showed that the logMAR BCVA had no correlation with the size of pits (P = 0.34). Fundus examination revealed a focal pale concave located in the sclera exposed area of retinal choroid atrophy was found in all cases. OCT showed a deep scleral pit where the retinal choroid was thin or absent, without retinal sensory detachment or sensory defect.

Conclusions

This study identified a rare scleral lesion in all eight individuals with PM, which was termed “myopic scleral pit”. This phenomenon is different from focal choroidal excavation and posterior staphyloma.
Vernal keratoconjunctivitis in Down syndrome: a case report
Authors: Artesani Maria Cristina , Esposito Mariacristina , Valentini Diletta , Villani Alberto , Fiocchi Alessandro Giovanni , Buzzonetti Luca
Published: March 2023

Background

Down syndrome (DS) or Trisomy 21 is the most common chromosomal disease and is characterized by possible heart defects, cognitive impairment and visual disorders.

Case presentation

We describe for the first time a 17-year-old Caucasian girl suffering from Down syndrome associated with vernal keratoconjunctivitis (VKC), a rare disorder of the anterior segment of the eye, characterized by intense photophobia, redness, watering eyes and itching due to an inflammatory-allergic reaction of the cornea and conjunctiva. On slit-lamp examination, the girl showed conjunctival hyperemia, papillary hypertrophy, giant papillae and corneal leukoma in right eye as a result of a previous corneal ulcer. A successful topical immunosuppressant therapy with cyclosporin 1% was started.

Conclusion

So far, to our knowledge, this is the first description of VKC in a patient with DS. Finding an inflammatory-allergic disease such as VKC in DS is unusual but it must be taken into account because keratoconus, one of the most frequent eye pathologies in DS, can be secondary to an unrecognized VKC.
Evaluation of a new digital pediatric malnutrition risk screening tool for hospitalized children with congenital heart disease
Authors: Zhang Yajie , Lu Lina , Yang Ling , Yan Weihui , Yu Qun , Sheng Jinye , Mao Xiaomeng , Feng Yi , Tang Qingya , Cai Wei , Wang Ying
Published: March 2023

Background

In a cohort of hospitalized children with congenital heart disease (CHD), a new digital pediatric malnutrition screening tool as a mobile application was validated, and its effectiveness and clinical value were determined as a prospective study.

Methods and results

Children with CHD (n = 1125) were screened for malnutrition risk. The incidence of risk and the differences among various age groups and types of CHD were characterized. The optimal threshold for the tool to determine if there is a risk of malnutrition is score 2, while the Youden index was 79.1%, and the sensitivity and specificity were 91.2% and 87.9%, respectively. Based on such criterion, 351 children were at risk of malnutrition accounting for 31.20% of the total. Compared with the non-malnutritional risk group, the median age for the group at risk for malnutrition was younger (8.641 months [4.8, 23.1] vs. 31.589 months [12.4, 54.3], P < 0.01), and the length of stay was longer (12.000 [8.0, 17.0] vs. (8.420 [5.0, 12.0], P < 0.01]. There were significant differences in malnutrition risk among different age groups (χ2 = 144.933, P < 0.01), and children under one year of age exhibited the highest risk for malnutrition and more extended hospital stay (H = 78.085, P < 0.01). The risk of malnutrition among children with cyanotic CHD was higher than in those with non-cyanotic CHD (χ2 = 104.384, P < 0.01).

Conclusions

The new digital pediatric malnutrition screening tool showed high sensitivity and specificity in children with CHD. The tool indicated that the malnutrition risk for young children and children with cyanotic or Bethesda moderate and complex CHD was higher, and the hospitalization time was longer than in the non-risk group. The tool provides a rational approach to targeted nutrition intervention and support and may improve clinical outcomes.
Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report
Authors: Pálla Sára , Anker Pálma , Farkas Klára , Plázár Dóra , Kiss Sándor , Marschalkó Péter , Szalai Zsuzsanna , Bene Judit , Hadzsiev Kinga , Maróti Zoltán , Kalmár Tibor , Medvecz Márta
Published: March 2023

Background

Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations inNF1andCOMPgenes, respectively. Both neurofibromin 1 and cartilage oligomeric matrix protein (COMP) play a role in the development of the skeleton. Carrying both germline mutations has not been previously reported; however, it can affect the developing phenotype.

Case presentation

The index patient, an 8-year-old female presented with several skeletal and dermatologic anomalies resembling the coexistence of multiple syndromes. Her mother had dermatologic symptoms characteristic for neurofibromatosis type 1, and her father presented with distinct skeletal anomalies. NGS-based analysis revealed a heterozygous pathogenic mutation in genesNF1andCOMPin the index patient. A previously unreported heterozygous variant was detected for theNF1gene. The sequencing of theCOMPgene revealed a previously reported, pathogenic heterozygous variant that is responsible for the development of the pseudoachondroplasia phenotype.

Conclusions

Here, we present the case of a young female carrying pathogenicNF1andCOMPmutations, diagnosed with two distinct heritable disorders, neurofibromatosis type 1 and pseudoachondroplasia. The coincidence of two monogenic autosomal dominant disorders is rare and can pose a differential diagnostic challenge. To the best of our knowledge, this is the first reported co-occurrence of these syndromes.
Child physical abuse screening in a pediatric ED; Does TRAIN(ing) Help?
Authors: Heyming Theodore , Knudsen-Robbins Chloe , Sharma Supriya , Thackeray Jonathan , Schomberg John , Lara Bryan , Wickens Maxwell , Wong Daphne
Published: March 2023

Background

Child maltreatment is distressingly prevalent yet remains under-recognized by healthcare providers. In 2015 the Ohio Children's Hospital Association developed the Timely Recognition of Abusive INjuries (TRAIN) collaborative in an effort to promote child physical abuse (CPA) screening. Our institution implemented the TRAIN initiative in 2019. The objective of this study was to examine the effects of the TRAIN initiative at this institution.

Methods

In this retrospective chart review we recorded the incidence of sentinel injuries (SIS) in children presenting to the Emergency Department (ED) of an independent level 2 pediatric trauma center. SIS were defined and identified by a diagnosis of ecchymosis, contusion, fracture, head injury, intracranial hemorrhage, abdominal trauma, open wound, laceration, abrasion, oropharyngeal injury, genital injury, intoxication, or burn in a child < 6.01 months of age. Patients were stratified into pre-TRAIN (PRE), 1/2017–9/2018, or post-TRAIN (POST), 10/2019–7/2020, periods. Repeat injury was defined as a subsequent visit for any of the previously mentioned diagnoses within 12 months of the initial visit. Demographics/visit characteristics were analyzed using Chi square analysis, Fischer’s exact test, and student’s paired t-test.

Results

In the PRE period, 12,812 ED visits were made by children < 6.01 months old; 2.8% of these visits were made by patients with SIS. In the POST period there were 5,372 ED visits, 2.6% involved SIS (p = .4). The rate of skeletal surveys performed on patients with SIS increased from 17.1% in the PRE period to 27.2% in the POST period (p = .01). The positivity rate of skeletal surveys in the PRE versus POST period was 18.9% and 26.3% respectively (p = .45). Repeat injury rates did not differ significantly in patients with SIS pre- versus post-TRAIN (p = .44).

Conclusion

Implementation of TRAIN at this institution appears to be associated with increased skeletal survey rates.
Unusual circumstance for craniopharyngioma discovery on meningoencephalitis: a pediatric case report
Authors: Oozeerally Jihann , Berthomieu Lionel , Bertozzi Anne-Isabelle , Estublier Bastien , Oliver Isabelle , Siegfried Aurore , Antherieu Pierre , Thene Emilie , Jamme Thibaut , Levade Thierry , Sevely Annick , Brehin Camille , Baudou Eloïse
Published: March 2023

Background

Craniopharyngioma is a rare condition in children, but it is the most frequent tumor that occurs in the hypothalamic pituitary region. Chemical meningitis has been described as an uncommon postoperative complication, but no chemical meningitis due to a spontaneous rupture leading to craniopharyngioma diagnosis in children has been reported.

Case presentation

This is a case of a 13-year-old boy presenting with fever, vomiting and headache for two days. The CT scan revealed a suprasellar lesion, and lumbar puncture showed aseptic meningitis. The cerebral MRI suggested a craniopharyngioma and the cerebrospinal fluid cholesterol concentration was abnormally high. A thorough medical history indicated some visual disturbance, which improved at the onset of meningitis, and an inflection of the growth curve. The anatomopathological analysis of the tumor confirmed the diagnosis of craniopharyngioma.

Conclusions

This case is the first to report the discovery of a craniopharyngioma with meningoencephalitis caused by the rupture of a craniopharyngioma cyst in a child.

Diagnosis was facilitated by determining the cholesterol level in the cerebrospinal fluid, as well as fine anamnesis to identify visual and growth disturbances.
The burden of childhood and adolescent cancers in North Africa and the Middle East (NAME) region: findings from the Global Burden of Disease study 2019
Authors: Karimi Amirali , Saeedi Moghaddam Sahar , Azadnajafabad Sina , Esfahani Zahra , Sharifnejad Tehrani Yeganeh , Abbasi-Kangevari Mohsen , Shobeiri Parnian , Ghamari Seyyed-Hadi , Masinaei Masoud , Rezaei Nazila , Shahin Sarvenaz , Rayzan Elham , Rezaei Negar , Larijani Bagher , Kompani Farzad
Published: March 2023

Introduction

Despite the significant burden of childhood and adolescent cancers, no specific studies recently discussed the burden of cancer in this group in the North Africa and the Middle East (NAME) region. Therefore, we aimed to study the burden of cancers in this group in this region.

Materials and methods

We retrieved the Global Burden of Disease (GBD) data for children and adolescent cancers (0–19 years old) in the NAME region from 1990 to 2019. 21 types of neoplasms were grouped as “neoplasms”, comprising 19 specific cancer groups as well as “other malignant neoplasms” and “other neoplasms”. Three significant parameters of incidence, deaths, and Disability-Adjusted Life Years (DALYs) were studied. The data are presented with 95% uncertainty intervals (UI), and reported rates per 100,000.

Results

In 2019, almost 6 million (95% UI: 4.166 M–8.405 M) new cases and 11,560(9770-13,578) deaths due to neoplasms occurred in the NAME region. Incidence was higher in females (3.4 M), while deaths (6226 of overall 11,560) and DALYs (501,118 of overall 933,885) were estimated as higher in males. Incidence rates did not significantly change since 1990, while deaths and DALYs rates declined significantly. After excluding “other malignant neoplasms” and “other neoplasms”, leukemia was responsible for the highest number of incidence and deaths (incidence: 10,629(8237-13,081), deaths: 4053(3135-5013), followed by brain and central nervous system cancers (incidence: 5897(4192-7134), deaths: 2446(1761-2960)), and non-Hodgkin lymphoma (incidence: 2741 (2237-3392), deaths: 790(645–962)). Incidence rates of neoplasms were similar for most countries, but countries varied more in terms of death rates. Afghanistan 8.9(6.5–11.9), Sudan 6.4(4.5–8.6), and the Syrian Arab Republic 5.6(4.3–8.3) had the highest overall death rates.

Conclusion

The NAME region is observing relatively constant incidence rates and a decreasing pattern in the deaths and DALYs. Despite this success, several countries are lagging behind in development. Different issues such as economic problems, armed conflicts and political instabilities, lack of equipment or experienced staff or poor distribution, stigmatization and disbelief in the healthcare systems account for unfavorable numbers in some countries. Such problems require urgent solutions as new sophisticated and personalized cares raise the alarm for even more inequalities between high and low-income countries.
Factors affecting the support for physical activity in children and adolescents with type 1 diabetes mellitus: a national survey of health care professionals’ perceptions
Authors: Cockcroft Emma J. , Wooding Eva L. , Narendran Parth , Dias Renuka P. , Barker Alan R. , Moudiotis Christopher , Clarke Ross , Andrews Robert C.
Published: March 2023

Background

Many children and adolescents with Type 1 Diabetes Mellitus (T1DM) don’t meet the recommended levels of physical activity. Healthcare professionals (HCPs) have a key role in supporting and encouraging children and adolescents with T1DM to be physically active. This study aims to understand the perspectives of HCPs in relation to supporting physical activity and implementing guidelines relating to physical activity.

Methods

An online mixed methods survey was circulated to HCPs in pediatric diabetes units in England and Wales. Participants were asked about how they support physical activity in their clinic and their perceptions of barriers/enablers of providing physical activity support to children and adolescents with T1DM. Quantitative data were analysed descriptively. An deductive thematic approach was applied to the free text responses using the Capability Opportunity Motivation model of Behaviour (COM-B) as a framework.

Results

Responses were received from 114 individuals at 77 different pediatric diabetes units (45% of pediatric diabetes units in England and Wales). HCPs surveyed felt that the promotion of physical activity is important (90%) and advised patients to increase levels of physical activity (88%). 19% of the respondents felt they did not have sufficient knowledge to provide support. HCPs reported limited knowledge and confidence, time and resources as barriers to providing support. They also felt the current guidance was too complicated with few practical solutions.

Conclusion

Pediatric HCPs need training and support to be able to encourage and support children and adolescents with T1D to be a physical activity. In addition, resources that provide simple and practical advice to manage glucose around exercise are needed.
Association between healthy sleep patterns and depressive trajectories among college students: a prospective cohort study
Authors: Zhang Dan , Qu Yang , Zhai Shuang , Li Tingting , Xie Yang , Tao Shuman , Zou Liwei , Tao Fangbiao , Wu Xiaoyan
Published: March 2023

Background

The purpose of this study was to identify different develpment trajectories of depression symptoms during college period, and prospectively investigate the associations healthy sleep patterns with trajectories of depression symptoms among college students from freshman through junior year.

Methods

A total of 999 participants from the College Student Behavior and Health Cohort Study were included between April 2019 and June 2021. Healthy sleep patterns were defined by chronotype, sleep duration, insomnia, snoring, and daytime sleepiness. Latent growth curve model was used to identify trajectories of depression symptoms. Then binary logistic regression was used to examine association of the healthy sleep patterns with these trajectories.

Results

In baseline survey, we found that a total of 100 (10.0%) participants had healthy sleep patterns’ score equal to 5. Then, we used 5 surveys’ data to identify 2 distinct trajectories of depression symptoms during college (decreasing: 82.5%; increasing: 17.5%). The healthy sleep patterns were associated with these trajectories, the better healthy sleep patterns significantly decrease the risk of increasing trajectories of depression symptoms in males (OR: 0.72, 95%CI: 0.54 ~ 0.97, P = 0.031). Moreover, we found out that the healthy sleep patterns of college students can predict the future depressive symptoms in this study (all P < 0.001).

Conclusion

Our findings indicate that the better healthy sleep patterns may significantly decrease the risk of increasing trajectory of depression symptoms only in male college students. The results speak to a need for college student with depression symptoms to identify and address sleep problems when present, which could prevent or reduce depression detriments in later life.
High rate of attention deficit hyperactivity disorder among children 6 to 17 years old in Southwest Ethiopia findings from a community-based study
Authors: Aliye Kemal , Tesfaye Elias , Soboka Matiwos
Published: March 2023

Background

Attention-deficit/hyperactivity disorder is among the common neuropsychiatric disorders affecting children and adolescents. The disorder affects the life of children, their parents, and the community when left untreated. Although evidence indicated a high prevalence of attention-deficit/hyperactivity disorder in the developed world, there is limited evidence in developing countries, particularly, Ethiopia. Therefore, this study aimed to determine the prevalence and associated factors of attention deficit hyperactivity disorder among Ethiopian children aged 6 to 17 years.

Methods

A community-based cross-sectional study was conducted from August to September 2021 among children aged 6 to 17 years in Jimma town. A multistage sampling technique was applied to select 520 study participants. Data were collected by using the Vanderbilt Attention Deficit Hyperactivity Disorder- Parent Rating scale as a modified, semi-structured, and face-to-face interview. The association between independent variables and the outcome variable was investigated using bi-variable and multivariable logistic regression. The final model level of significance was set at a p-value of < 0.05.

Result

A total of 504 participants were involved in the study with a response rate of 96.9%. The overall prevalence of attention deficit hyperactivity disorder in this study was (9.9%, n = 50). Maternal complication during pregnancy (Adjusted odds ratio (AOR) = 3.56, 95% CI = 1.44–8.79, mothers illiteracy (AOR = 3.10, 95% CI = 1.24–7.79), attending primary school (AOR = 2.97, 95% CI = 1.32–6.73), history of head trauma (AOR = 3.20, 95% CI = 1.25–8.16), maternal alcohol use during pregnancy (AOR = 3.54, 95% CI = 1.26-10), bottle feeding during first six months (AOR = 2.87, 95% CI = 1.20–6.93) and child’s age 6–11 years (AOR = 3.86, 95% CI = 1.77–8.43) were significantly associated with attention deficit hyperactivity disorder.

Conclusion

In this study, one in ten children and adolescents in Jimma town had attention deficit hyperactivity disorder. Therefore, the prevalence of attention deficit hyperactivity disorder was high. For this reason, there is a need to pay increased attention to control associated factors of attention deficit hyperactivity disorder and reduce its prevalence.
Risk of SARS-CoV-2 infection, severe COVID-19 illness and COVID-19 mortality in people with pre-existing mental disorders: an umbrella review
Authors: Bertolini Federico , Witteveen Anke B , Young Susanne , Cuijpers Pim , Ayuso-Mateos Jose Luis , Barbui Corrado , Cabello María , Cadorin Camilla , Downes Naomi , Franzoi Daniele , Gasior Michael Elizabeth , Gray Brandon , John Ann , Melchior Maria , van Ommeren Mark , Palantza Christina , Purgato Marianna , Van der Waerden Judith , Wang Siyuan , Sijbrandij Marit
Published: March 2023

Introduction

The COVID-19 pandemic has posed a serious health risk, especially in vulnerable populations. Even before the pandemic, people with mental disorders had worse physical health outcomes compared to the general population. This umbrella review investigated whether having a pre-pandemic mental disorder was associated with worse physical health outcomes due to the COVID-19 pandemic.

Methods

Following a pre-registered protocol available on the Open Science Framework platform, we searched Ovid MEDLINE All, Embase (Ovid), PsycINFO (Ovid), CINAHL, and Web of Science up to the 6th of October 2021 for systematic reviews on the impact of COVID-19 on people with pre-existing mental disorders. The following outcomes were considered: risk of contracting the SARS-CoV-2 infection, risk of severe illness, COVID-19 related mortality risk, risk of long-term physical symptoms after COVID-19. For meta-analyses, we considered adjusted odds ratio (OR) as effect size measure. Screening, data extraction and quality assessment with the AMSTAR 2 tool have been done in parallel and duplicate.

Results

We included five meta-analyses and four narrative reviews. The meta-analyses reported that people with any mental disorder had an increased risk of SARS-CoV-2 infection (OR: 1.71, 95% CI 1.09–2.69), severe illness course (OR from 1.32 to 1.77, 95%CI between 1.19–1.46 and 1.29–2.42, respectively) and COVID-19 related mortality (OR from 1.38 to 1.52, 95%CI between 1.15–1.65 and 1.20–1.93, respectively) as compared to the general population. People with anxiety disorders had an increased risk of SAR-CoV-2 infection, but not increased mortality. People with mood and schizophrenia spectrum disorders had an increased COVID-19 related mortality but without evidence of increased risk of severe COVID-19 illness. Narrative reviews were consistent with findings from the meta-analyses.

Discussion and conclusions

As compared to the general population, there is strong evidence showing that people with pre-existing mental disorders suffered from worse physical health outcomes due to the COVID-19 pandemic and may therefore be considered a risk group similar to people with underlying physical conditions. Factors likely involved include living accommodations with barriers to social distancing, cardiovascular comorbidities, psychotropic medications and difficulties in accessing high-intensity medical care.