Search

Objectives: To summarize the clinical characteristics and prognosis of children with nasolabial fold rhabdomyosarcoma (RMS). Methods: Retrospective review of children treated for nasolabial fold RMS from January 2014 to September 2019. Results: Of 21 patients with nasolabial fold RMS, 90.48% were alveolar subtype, in which PAX3/7‐FOXO1 fusion positive accounted for 87.5%. Ten patients (47.62%) had nodals invasion. Almost all patients received comprehensive treatment (chemotherapy [100%], radiation therapy [100%], and surgery [95.24%]). The median follow‐up time was 34.3 months. The 3‐year overall survival (OS) and event‐free survival (EFS) was 67.7% ± 14.1% and 42.1% ± 13.5%, respectively. Four patients had regional lymph node relapse (NR), all in the ipsilateral submandibular lymph node region. Conclusion: Majority of the patients with RMS in the nasolabial fold area were alveolar subtype and had positive PAX3/7‐FOXO1 gene fusion. In addition, the nasolabial fold RMS had a high probability of regional lymph node metastasis in the submandibular area. To maintain the facial aesthetics and functions, the surgical area for nasolabial fold RMS is often very conservative and restricted. This could be one of the contributors for the poor prognosis of nasolabial fold RMS beside its worse pathological subtype and gene fusion. [ABSTRACT FROM AUTHOR]

We describe the presentation and treatment of the first reported case of a nasopharyngeal pleomorphic lipoma. The mass was successfully treated with a combined endoscopic trans‐oral surgical excision approach by using low temperature‐controlled plasma technology, resulting in optimal patient outcomes. Laryngoscope, 134:2710–2712, 2024 [ABSTRACT FROM AUTHOR]

Recently, telomerase reverse transcriptase (TERT) gene rearrangements have been identified in neuroblastoma (NB), the typical pathological type of neuroblastic tumours (NTs); however, the prevalence of TERT rearrangements in other types of NT remains unknown. This study aimed to develop a practical method for detecting TERT defects and to evaluate the clinical relevance of TERT rearrangements as a biomarker for NT prognosis. A TERT break‐apart probe for fluorescence in situ hybridisation (FISH) was designed, optimised, and applied to assess the genomic status of TERT in Chinese children with NTs at the Beijing Children's Hospital from 2016 to 2019. Clinical, histological, and genetic characteristics of TERT‐rearranged NTs were further addressed. Genomic TERT rearrangements could be effectively detected by FISH and were mutually exclusive with MYCN amplification. TERT rearrangements were identified in 6.0% (38/633) of NTs overall, but 12.4% (31/250) in high‐risk patients. TERT rearrangements identified a subtype of aggressive NTs with the characteristics of Stage 3/4, high‐risk category, over 18 months old, and presenting all histological subtypes of NB and ganglioneuroblastoma nodular. Moreover, TERT rearrangements were significantly associated with elevated TERT expression levels and decreased survival chances. Multivariable analysis confirmed that it was an independent prognostic marker for NTs. FISH is an easily applicable method for evaluating TERT defects, which define a subgroup of NTs with unfavourable prognosis. TERT rearrangements would contribute to characterising NT molecular signatures in clinical practice. [ABSTRACT FROM AUTHOR]

Objectives: To explore the differences in the efficacy and safety of oral sirolimus and sildenafil in the treatment of pediatric intractable lymphatic malformations (LMs). Methods: From January 2014 to May 2022, we retrospectively enrolled children with intractable LMs treated with oral drugs (sirolimus or sildenafil) and divided the patients into sirolimus and sildenafil groups from Beijing Children's Hospital (BCH). Clinical features, treatment, and follow‐up data were collected and analyzed. The indicators were the ratio of reduction in lesion volume pre and posttreatment, the number of patients with improved clinical symptoms, and adverse reactions to the two drugs. Results: Twenty‐four children in the sildenafil group and 31 children in the sirolimus group were included in the present study. The effective rate in the sildenafil group was 54.2% (13/24), with a median lesion volume reduction ratio of 0.32 (−0.23, 0.89) and clinical symptoms improved in 19 patients (79.2%). On the contrary, the effective rate in the sirolimus group was 93.5% (29/31), with a median lesion volume reduction ratio of 0.68 (0.34, 0.96), and clinical symptoms improved in 30 patients (96.8%). There were significant differences (p < 0.05) between the two groups. Regarding safety, four patients in the sildenafil group and 23 patients in the sirolimus group with mild adverse reactions were reported. Conclusion: Both sildenafil and sirolimus can reduce the volume of LMs and improve clinical symptoms in partial patients with intractable LMs. Sirolimus is more effective than sildenafil and the adverse reactions associated with both drugs are mild and controllable. Level of Evidence: III Laryngoscope, 133:3192–3199, 2023 [ABSTRACT FROM AUTHOR]

Regulation of Hybrid Materials of Ministry of Education, Bimetallic nanoclusters with synergistic effect exhibit better stability and activity than monometallic nanoclusters in catalytic applications. However, the large number of ligands on the surface of nanoclusters obscure the active sites, thus reducing the catalytic activity. Here, AuCu24/AC−X (X=0, 200, 300, 500, 800) catalysts were fabricated by removing the partial ligands on the surface of AuCu24H22((p‐FPh)3P)12 nanoclusters (short for AuCu24 NCs), and investigated the influence of calcination temperature on catalytic performance of AuCu24/AC in homocoupling and heterocoupling of terminal alkynes. The results showed that the catalytic activity of AuCu24/AC−X exhibited a volcanic trend with the increase of X (heat treatment temperature) and the content of Cu2+ also changed with the increase of X. Compared with Au25/AC‐200 and Cu25/AC‐200 catalysts, the AuCu24/AC‐200 bimetallic catalyst showed the highest catalytic activity in homocoupling and heterocoupling of terminal alkynes under mild conditions with TOF values reaching 478.7 h−1 and 114.1 h−1 respectively, which are higher than most reported catalysts. This work provides a research idea for the design of bimetallic nanoclusters with superior performance. [ABSTRACT FROM AUTHOR]

Summary: Obstructive sleep apnea (OSA) is a common chronic sleep‐related breathing disorder in children. Previous studies showed widespread alterations in white matter (WM) in children with OSA mainly by using diffusion tensor imaging (DTI), while diffusional kurtosis imaging (DKI) extended DTI and exhibited improved sensitivity in detecting developmental and pathological changes in neural tissues. Therefore, we conducted whole‐brain DTI and DKI analyses and compared the differences in kurtosis and diffusion parameters within the skeleton between 41 children with OSA and 32 healthy children. Between‐group differences were evaluated by tract‐based spatial statistics (TBSS) analysis (p < 0.05, TFCE corrected), and partial correlations between DKI metrics and sleep parameters were assessed considering age and gender as covariates. Compared with the controls, children with OSA showed significantly decreased kurtosis fractional anisotropy (KFA) mainly in white matter regions with a complex fibre arrangement including the posterior corona radiate (PCR), superior longitudinal fasciculus (SLF), and inferior fronto‐occipital fasciculus (IFOF), while decreased FA in white matter regions with a coherent fibre arrangement including the posterior limb of internal capsule (PLIC), anterior thalamic radiation (ATR), and corpus callosum (CC). Notably, the receiver operating characteristic (ROC) curve analysis demonstrated the KFA value in complex tissue regions significantly (p < 0.001) differentiated children with OSA from the controls. In addition, the KFA value in the left PCR, SLF, and IFOF showed significant partial correlations to the sleep parameters for children with OSA. Combining DKI derived kurtosis and diffusion parameters can provide complementary neuroimaging biomarkers for assessing white matter alterations, and reveal pathological changes and monitor disease progression in paediatric OSA. [ABSTRACT FROM AUTHOR]

Propionic acidemia (PA) is an autosomal recessive inheritable metabolic disease caused by mutations in the propionyl CoA carboxylase gene (PCC) that affects multiple systems of the human body. Here, we report neuropathological findings of a PA patient. The patient was a male infant who presented with increasing lethargy and poor feeding from four days postpartum. He gradually became comatose and died from complications after liver transplantation at three months old. The results of laboratory examination were consistent with PA, and genetic analysis revealed compound heterozygous mutations in the gene for PCC subunit beta: c.838dupC (rs769968548) and c.1127G>T (rs142982097). Brain‐restricted autopsy was performed 23 h after his death, and the neuropathological examination revealed distinct astrocytosis, oligodendrocytic loss, neuronal loss, and demyelination across the brainstem, motor cortex, basal ganglia, and thalamus. Spongiosis, vacuolization, and the appearance of Alzheimer type II astrocytes and activated microglia were observed as well. This is the first brain autopsy report of PA with a clear genetic cause. [ABSTRACT FROM AUTHOR]

Objective: This study examines the differential association between sex and depression, and the possible mediating pathways. Methods: We analysed survey data from 296 (age 7–17.1 years) cancer survivors from three centres affiliated with Beijing Children's Hospital. Linear regression analysis was used to assess the association between sex and depression. Quantile regression analysis was used to estimate the regression coefficients (β) and 95% confidence intervals for sex in depression at different quantiles. Mediation analysis with multiple mediators was used to explore the effects of sex on depression. Results: Using linear regression, we found that the age ranged from 8.7 to 10.4 years and the regression coefficient of sex on depression was significant (β = −2.75, p = 0.03). Quantile regression results showed a significant negative association between sex and depression in the 0.30–0.75 quantiles. Mediation analysis revealed that boys were 1.545 times more depressed than girls, with family resilience, self‐perceived burden, and behavioural problems explaining approximately 16.79%, 21.57%, and 43.94% of the sex difference, respectively. The combined effect of family functioning, resilience, social support, self‐perceived burden, and behavioural problems might explain the 89.17% sex difference. Conclusion: Clinicians should consider sex effects when assessing depression in childhood cancer survivors and target sex‐specific interventions for further treatment. [ABSTRACT FROM AUTHOR]

Due to the fast dynamics and re‐equilibration of supramolecular self‐assembly, bottom‐up molecular strategies to fabricate well‐defined and controllable multiblock structures are rare. Herein, we propose a new concept for fabrication of fluorescent multiblock microcolumns containing 1 to 7 blocks via hierarchical supramolecular self‐assembly based on cucurbit[8]uril (CB[8]), NaBr and an AIEgen guest. Through the complexation between CB[8] and different numbers of AIEgen guests (2, 1, 0), the competitive displacement caused by the binding of the sodium cation to the CB[8] portal, and the reversible assembly of positively charged guests in salt solutions, one‐pot hierarchical supramolecular self‐assembly is realized. The molecular structure of each block is analyzed by single‐crystal X‐ray diffraction. The AIEgen enables the self‐assembly of multiblocks to be visualized, understood, and regulated. [ABSTRACT FROM AUTHOR]

Herein, a host–guest interaction–controlled photoproduct created by using cucurbit[7]uril (Q[7])‐based pseudorotaxane structures is reported. The assembly exhibited controlled behavior towards the reduction of the ethylene (C=C) bond in the tetrakis(pyridin‐4‐yl)ethylene (TPyE) guest molecule under UV light irradiation. This can be attributed to the Q[7] encapsulation masking the four pyridinium arms of the guest, which inhibits planarization of the TPyE core to form the cyclization product. In particular, the strong affinity of Q[7] for the butyl‐substituted guest (TPyE‐4C) led to an unusual radical fluorescence emission of the photoirradiation‐triggered intermediate of the guest molecule being observed in aqueous solution. This work provides a valuable paradigm and new insight for macrocycle‐based host−guest interactions in supramolecular catalysis and luminescent radical materials. [ABSTRACT FROM AUTHOR]

Herein, a series of triphenylamine derivatives (TPAs), which are comprised of electron donor and acceptor moieties, have been exploited as sensitive colorimetric sensors for Cu2+, operating via the formation of the corresponding organic radicals through a redox reaction in a mixed solvent system (acetonitrile/water). Further studies indicated that the Cu2+ recognition triggered organic radical cations were stable in aqueous solution, and can be used as an antibacterial agent for both Escherichia coli (E. coli) and Staphylococcus aureus (S. aureus) at very low concentrations (10−7 M). On comparison with light irradiated photodynamic therapy triggered radicals, the present work reveals that the direct use of radical cations of TPAs is more convenient for practical applications in killing bacteria. This work thus provides new insight into the design of sensitive colorimetric sensors and antibacterial agents. [ABSTRACT FROM AUTHOR]

Introduction: Rosai–Dorfman disease (RDD) is an uncommon, benign, and idiopathic histiocytic proliferative disorder. Multiple intracranial RDD is extremely rare and treatment varies. Case presentation: A 9‐year‐old girl was admitted with 3‐month history of blurred vision and facial paralysis, a 2‐month history of recurrent giggle, and cognitive impairment. Computed tomography and magnetic resonance imaging scans revealed bilateral ventricular masses based on the dural membrane and the diameters of the masses were 9.1 cm and 9.2 cm, respectively. The lesions were completely removed with staging surgeries. Fifteen months after operation, blurred vision was still present but facial paralysis and giggle and cognitive impairment disappeared. Imaging examinations suggested that there were no new or recurring lesions. Conclusion: For multiple large intracranial masses, surgical treatment is necessary and staged surgery benefits perioperative safety. Active follow‐up with magnetic resonance imaging is necessary. [ABSTRACT FROM AUTHOR]

Hepatic fibrosis is a common pathological process involving persistent liver injury with various etiologies and subsequent inflammatory responses that occur in chronic liver diseases. If left untreated, liver fibrosis can progress to liver cirrhosis, hepatocellular carcinoma and eventually, liver failure. Unfortunately, to date, there is no effective treatment for liver fibrosis, with the exception of liver transplantation. Although the pathophysiology of liver fibrosis is multifactorial and includes the activation of hepatic stellate cells, which are known to drive liver fibrogenesis, hepatic macrophages have emerged as central players in the development of liver fibrosis and regression. Hepatic macrophages, which consist of resident macrophages (Kupffer cells) and monocyte‐derived macrophages, have been shown to play an intricate role in the initiation of inflammatory responses to liver injury, progression of fibrosis, and promotion of fibrosis resolution. These features have made hepatic macrophages uniquely attractive therapeutic targets in the fight against hepatic fibrosis. In this review, we synthesised the literature to highlight the functions and regulation of heterogeneity in hepatic macrophages. Furthermore, using the existing findings, we attempt to offer insights into the molecular mechanisms underlying the phenotypic switch from fibrogenic macrophages to restorative macrophages, the regulation of heterogeneity, and modes of action for hepatic macrophages. A better understanding of these mechanisms may guide the development of novel anti‐fibrotic therapies (eg macrophage subset‐targeted treatments) to combat liver fibrosis in the future. [ABSTRACT FROM AUTHOR]

Importance: First branchial cleft anomalies (FBCAs) are rare congenital malformations, accounting for < 8% of all branchial cleft anomalies. However, little is currently known about the cause of FBCAs at the molecular level. Objective: To identify genomic alterations related to the genetic etiology of FBCAs in Chinese children. Methods: We performed whole‐exome sequencing of samples from 10 pediatric patients with FBCAs. Data analysis was carried out using the Burrow‐Wheeler Alignment software package, and the dbSNP database for comparisons. Rare variants were further validated by Sanger sequencing. Insertion/deletions (indels) were examined using the Genome Analysis Toolkit. Results: We identified 14 non‐synonymous mutations in seven potential FBCA‐susceptibility genes (TRAPPC12, NRP2, NPNT, SH3RF2, RHPN1, TENM4, and ARMCX4). We also detected 133 shared small indels in 125 genes. Gene Ontology analysis indicated that most of the identified genes played critical roles in development and differentiation pathways involved in regulating organ development. Interpretation: We characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA. The results identified potential pathogenic genes and mutations related to FBCA, and provide molecular‐level support for the branchial theory of FBCA pathogenesis. Workflow for the identification of potential pathogenic mutations in the first branchial cleft anomalies in Chinese children by whole exome sequencing. [ABSTRACT FROM AUTHOR]

Objective/Hypothesis: To evaluate the efficacy of initial sirolimus therapy in the treatment of intractable head and neck lymphatic malformations (LMs) in children. Study Design: Prospective open‐label study. Methods: In this study, Twenty‐seven children diagnosed with LMs were given oral sirolimus as primary treatment over a minimum 6‐month trial. The major parameter to evaluate therapeutic outcome was percentage of lesion volume change compared with baseline. Average serum sirolimus concentrations, and adverse side effects, were monitored throughout the study period. Results: Fifteen girls and twelve boys, average age 27 months (16 days–171 months), constitute the study group. Treatment was deemed effective for twenty‐three participants, judged as fair in seven, good in nine, and excellent in seven. Two patients had minimal improvement, and two had increased volume to some degree. Effectiveness differed among LMs subtypes with responsiveness of macrocystic LMs exceeding that of microcystic LMs (P <.05). Adverse drug reactions totaled 27 events in ten patients, the majority being mild with upper respiratory infections being most common. Conclusions: Sirolimus as initial therapy is effective in decreasing lesion volume in intractable LMs in head and neck region, especially in macrocystic subtypes. Although most cases cannot be completely cured, side effects are few and tolerable. Level of Evidence: 4 Laryngoscope, 131:1902–1908, 2021 [ABSTRACT FROM AUTHOR]

Porous materials, especially metal–organic frameworks, covalent organic frameworks, and supramolecular organic frameworks, are widely used in heterogeneous catalysis, adsorption, and ion exchange. Cucurbit[n]urils (Q[n]s) suitable building units for porous materials because they possess cavities with neutral electrostatic potential, portal carbonyls with negative electrostatic potential, and outer surfaces with positive electrostatic potential, which may result in the formation of Q[n]‐based supramolecular frameworks (QSFs) assembled through the interaction of guests within Q[n]s, the coordination of Q[n]s with metal ions, and outer‐surface interaction of Q[n]s (OSIQ). This review summarizes the various QSFs assembled via OSIQs. The QSFs can be classified as being assembled by 1) self‐induced OSIQ, 2) anion‐induced OSIQ, and 3) aromatic‐induced OSIQ. The design and construction of QSFs with novel structures and specific functional properties may establish a new research direction in Q[n] chemistry. [ABSTRACT FROM AUTHOR]

Importance: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. More than 90% of cases are classified as embryonic RMS (ERMS) or alveolar RMS (ARMS). ERMS has a worse prognosis than ARMS. Early differential diagnosis is of paramount importance for optimization of treatment. Objective: To identify genes that are differentially expressed between ARMS and ERMS, which can be used for accurate rhabdomyosarcoma classification. Methods: Three Gene Expression Omnibus datasets composed of ARMS and ERMS samples were screened and 35 differentially expressed genes (DEGs) were identified. Receiver operating characteristic curve analysis and area under the curve analysis was performed for these 35 DEGs and seven candidate genes with the best differential expression scores between ARMS and ERMS were determined. The expression of these seven candidate genes was validated by immunohistochemical analysis of pre‐chemotherapy ARMS and ERMS specimens. Results: The levels of DCX and CRABP2 were confirmed to be remarkably different between paraffin‐embedded ARMS and ERMS tissues, while EGFR abundance was only marginally different between these two RMS subtypes. Interpretation: DCX and CRABP2 are potential biomarkers for distinguishing ARMS from ERMS in pre‐chemotherapy pediatric patients. [ABSTRACT FROM AUTHOR]

Objectives/Hypothesis: We aimed to analyze the clinical characteristics and introduce a new subclassification system for type II first branchial cleft anomalies (FBCAs) based on magnetic resonance imaging (MRI) findings. Study Design: Retrospective cases study. Methods: We conducted an analysis of data from patients with type II FBCAs. MRI findings were used to categorize FBCAs into three subtypes. FBCAs located between the subcutaneous tissue and parotid were classified as type IIa. FBCAs located between the deep and superficial lobes of the parotid were classified as type IIb. FBCAs located between the parotid and the carotid sheath were classified as type IIc. Results: Patients with type II FBCAs were classified as type IIa, IIb, and IIc in 14, 14, and seven cases, respectively. Type IIa lesions exhibited a close relationship with the facial nerve in 42.9% of cases. In these cases, the main trunk of the facial nerve adhered to the lesion and was located superficially to the FBCA. In all patients with type IIb lesions, the main trunk and marginal mandibular branch of the facial nerve adhered to the lesion. The main trunk of the facial nerve adhered to the lesion in one patient with a type IIc. There was no relationship between the lesion and the facial nerve in the remaining type IIc cases. Conclusions: MRI can be used to identify the locations of FBCA and the parotid, which can aid surgeons in predicting the relationship between the lesion and the facial nerve. It is feasible to classify type II FBCAs into three subtypes based on MRI. Level of Evidence: 4 Laryngoscope, 131:916–920, 2021 [ABSTRACT FROM AUTHOR]

Obstructive sleep apnea (OSA) is a common sleep‐disordered breathing disease that often leads to many comorbidities (e.g., cognitive dysfunction), which adversely affect the quality of life for patients with OSA. Thus far, the underlying mechanisms of this dysfunction remain unclear. Many studies have focused on OSA‐related characteristics, including intermittent hypoxemia and sleep fragmentation. There is increasing emphasis on neuroimaging studies to explore underlying relationships between neuropathological changes and cognitive dysfunction. This article reviews recent research progress concerning cognitive dysfunction associated with OSA to reveal potential mechanisms that contribute to this dysfunction. [ABSTRACT FROM AUTHOR]

There is an urgent need for enhancing climate change resilience in rice production. Here, we report a reflective algal mulching‐based culture practice to attain a simple and low‐cost biological method for enhancement of climate change resilience. The dense mulching of Rhizoclonium sp. in field water highly reflected sunlight in the visible and infrared regions, thus significantly decreasing the root zone temperature, and significantly and simultaneously mitigated CO2, CH4, and N2O emissions through gas retention and removal in the field water layer, as well as reducing gas production. The algae could also enhance rice growth and soil fertility. [ABSTRACT FROM AUTHOR]

Background: A variety of imaging modalities have been described for the diagnosis of congenital pyriform sinus fistula (CPSF). To date, there have been few MRI reports. Purpose: To evaluate MRI findings of CPSF and interobserver reliability. Study Type: Retrospective. Population: In all, 115 patients aged 23 days to 15.4 years at operation. Field Strength/Sequence: 3.0T/axial T1‐weighted image (T1WI)‐SPIR, axial T2WI, axial T2WI‐STIR, coronal T2WI‐SPIR, diffusion‐weighted imaging (DWI), axial and coronal gadolinium‐enhanced T1WI‐SPIR. Assessment: For each patient, the medical records, including demographics, clinical manifestations, and MRI findings were reviewed. All the MRI studies were interpreted by three radiologists independently. Statistical Test: Kendall's W test was made to determine the interobserver reliability of three reviewers for MRI findings. Results: CPSF occurred on the left side in 104 (90.4%) patients and on the right side in 11 (9.6%) patients. The male‐to‐female ratio was 59:56. The age at first episode varied from birth to 12.3 years. There was one neonate patient, who presented with a unilocular cystic mass in the left neck. A tunnel‐like lesion between the pyriform fossa and the upper pole of the thyroid gland, T2 high signal behind the cricothyroid joint, thyroid gland involvement, deep neck abscesses or masses were noted in 46 (40%), 93 (80.9%), 96 (83.5%), and 36 (31.3%) patients, respectively. There was excellent interobserver reliability for all the MRI findings, ranging from 0.84 to 1.00. Data Conclusion: The sinus tract presenting with a tunnel‐like lesion goes behind the cricothyroid joint in most cases. For patients presenting with acute suppurative thyroiditis (AST) or neck infection with thyroid gland involvement, the presence of T2 high signal behind the cricothyroid joint highly suggests the diagnosis of CPSF. MRI is a reliable method for the diagnosis of CPSF. Level of Evidence: 4 Technical Efficacy Stage: 2 [ABSTRACT FROM AUTHOR]

Importance: Neuroblastoma is the most common extracranial malignant solid tumor in children. Multidisciplinary care is critical to improving the survival of pediatric patients with neuroblastoma. Objective: To systematically summarize the clinical characteristics of children with neuroblastoma and evaluate their prognosis with multidisciplinary care provided in a single center. Methods: This retrospective study analyzed the clinical data of 1041 patients with neuroblastoma who were diagnosed, treated, and followed‐up in the Hematology‐Oncology Center of Beijing Children's Hospital from 2007 to 2019. Results: The median age at diagnosis was 34 months; 80.8% of the patients were younger than 5 years of age. Notably, 243 patients (23.3%) were classified as low‐risk, 249 patients (23.9%) were classified as intermediate‐risk, and 549 (52.7%) were classified as high‐risk. Furthermore, 956 patients underwent surgical resections; 986 (94.7%) patients received chemotherapy; and 176 patients with high‐risk neuroblastoma received hematopoietic stem cell transplantation. The 5‐year event‐free survival (EFS) rate was 91.3% and 5‐year overall survival (OS) rate was 97.5% in low‐risk group; in the intermediate‐risk group, these rates were 85.1% and 96.7%, respectively, while they were 37.7% and 48.9% in the high‐risk group (P < 0.001 for both). The 5‐year EFS and OS rates were significantly higher in patients diagnosed between 2015 and 2019 than in patients diagnosed between 2007 and 2014 (P < 0.001). In total, 278 patients (26.7%) exhibited tumor relapse or progression; the median interval until relapse or progression was 14 months. Of the 233 patients who died, 83% died of relapse or progression of neuroblastoma and 4.3% died of therapy‐related complications. Interpretation: The 5‐year OS rate was low in high‐risk patients, compared with low‐and intermediate‐risk patients. Multidisciplinary care is critical for improvement of survival in pediatric patients with neuroblastoma. Additional treatment strategies should be sought to improve the prognosis of patients with high‐risk neuroblastoma. [ABSTRACT FROM AUTHOR]

Importance: Cochlear implantation (CI) is an effective therapy for patients with severe to profound sensorineural hearing loss. It remains controversial whether children younger than 12 months of age should undergo CI. Objective: To evaluate the safety and effectiveness of CI in children younger than 12 months of age. Methods: We performed a retrospective study of clinical data of pediatric patients younger than 12 months of age who underwent CI and were followed up for 1 to 2 years. Patients' developmental levels were evaluated by the Gesell score before CI. Intraoperative and postoperative complications were recorded to evaluate the safety of CI. Auditory and speech abilities were scored by the LittlEARS® auditory questionnaire (LEAQ), categories of auditory performance (CAP), speech intelligibility rating (SIR), infant‐toddler meaningful auditory integration scale (IT‐MAIS), and meaningful use of speech scale (MUSS) at 1, 2, 3, 6, 9, and 12 months after CI. The associations between clinical characteristics before CI and postoperative scores at 1 year after CI were analyzed by the linear mixed‐effects model. Results: Eighty‐nine children (47 boys and 42 girls) were included in this study (mean age at CI, 9.2 ± 1.6 months). Sixteen patients were diagnosed with cochlear malformation and 16 underwent bilateral CI. No severe complications occurred in any patients. The mean developmental quotient of the Gesell score was 78.00 ± 10.03. The median LEAQ scores were 0, 5, 10, 16, 22, 26 and 30 before and at 1, 2, 3, 6, 9, and 12 months after CI, respectively. These findings implied that the LEAQ score greatly improved in the first year after CI. The overall CAP, SIR, IT‐MAIS, and MUSS scores also increased with increasing duration after CI. No significant associations were detected between clinical characteristics (age, sex, implant number, pre‐CI Gesell score, and inner ear malformation) and LEAQ outcomes at 12 months after CI. Interpretation: With increasing duration after CI, auditory and speech behavior dramatically improve in young children. Our findings indicate that CI is feasible for children younger than 12 months of age. [ABSTRACT FROM AUTHOR]

Background: The objective of this study was to investigate the genetic causes of two probands diagnosed as Waardenburg syndrome (WS type I and IV) from two unrelated Chinese families. Methods: PAX3 and SOX10 were the main pathogenic genes for WS type I (WS I) and IV (WS IV), respectively; all coding exons of these genes were sequenced on the two probands and their family members. Luciferase reporter assay and co‐immunoprecipitation (CO‐IP) were conducted to verify potential functional outcomes of the novel mutations. Results: The first proband is a 9 years old girl diagnosed with WS I. A novel PAX3 heterozygous mutation of c.372‐373delGA (p.N125fs) was identified, which results in a frameshift and truncation of PAX3 protein. In family II, a 2 years old girl was diagnosed with WS IV, and Sanger sequencing revealed a de novo SOX10 mutation of c.1114insTGGGGCCCCCACACTACACCGAC (p.Q372fs), a frameshift mutation that extends the amino acid chain of SOX10 protein. Functional studies indicated that the novel mutation of SOX10 had no effects on the interaction of SOX10 and PAX3, but reduced transactivate capacity of melanocyte inducing transcription factor (MITF) promoter. Both PAX3 and SOX10 mutation‐induced defects of MITF transcription might contribute to the WS pathogenesis. Conclusion: We revealed a novel mutation in PAX3 and a de novo mutation in SOX10, which might account for the underlying pathogenesis of WS. This study expands the database of both PAX10 and PAX3 mutations and improves our understanding of the causes of WS. [ABSTRACT FROM AUTHOR]

Objectives/hypothesis: The definition of large-volume pathologic N1 metastases has been changed in the 2017 version 2 of the National Comprehensive Cancer Network guidelines, leading to a controversy over the optimal surgical approach selection for patients with biopsy-proven papillary thyroid carcinoma (PTC). The aim of this study was to investigate the therapeutic efficacy of total thyroidectomy (TT) and thyroid lobectomy (TL) for these patients.Study Design: Retrospective population-based database analysis.Methods: A total of 906 consecutive PTC patients with pathologic N1 metastases (>5 involved nodes with metastases ≤5 mm in the largest dimension) were retrieved from the Surveillance, Epidemiology, and End Results database, and divided into two groups (≤2 mm, >2-5 mm) based on the size of the extent of disease. Overall survival (OS) was then compared between patients treated with TT and TL, followed by Cox proportional hazards regression analysis to explore multiple prognostic factors.Results: OS favored TT compared with TL in patients with more than five involved nodes and metastases >2 to 5 mm in the largest dimension (P < .05). Cox analysis showed that the TL was not an independent factor associated with poorer OS than TT in these patients (P > .05).Conclusions: TT showed better survival than TL for patients with more than five involved nodes and metastases >2 to 5 mm in the largest dimension. For patients with more than five involved nodes and metastases ≤2 mm in the largest dimension, either TT or TL can be recommended because there was no difference in survival.Level Of Evidence: NA Laryngoscope, 130:269-273, 2020. [ABSTRACT FROM AUTHOR]

Importance: The incidence of obstructive sleep apnea syndrome (OSAS) in children has increased year by year recently. Blood pressure research of OSAS children can help understand the occurrence of OSAS related complications. Early detection and intervention of blood pressure changes in children with OSAS can reduce the incidence of cardiovascular disease in later adulthood. Objective: To investigate the differences in blood pressure among different groups of snoring children and different sleep stages. Methods: Habitually snoring children (snoring frequency of ≥ 3 nights per week) aged 3 to 11 years were recruited from Beijing Children's Hospital from 1 January 2017 to 30 June 2018. All children underwent polysomnography, and their blood pressure was monitored and calculated by the pulse transit time. The children were divided into those with primary snoring (PS), mild OSAS, and moderate to severe OSAS according to their obstructive apnea–hypopnea index (OAHI). Results: In total, 140 children were included. Ninety‐seven had PS, 24 had mild OSAS, and 19 had moderate to severe OSAS. There were no differences in age, sex, or body mass index z‐score among the groups. Statistically significant differences were found in the OAHI, oxygen desaturation index 3%, respiratory arousal index, and lowest oxygen saturation among the three groups. Children with moderate to severe OSAS had higher systolic and diastolic blood pressure than those with mild OSAS and PS (P < 0.001). In all children, systolic and diastolic blood pressure was higher in the rapid eye movement (REM) sleep stage than in the non‐REM sleep stage (P < 0.05). Interpretation: Children with moderate to severe OSAS had higher blood pressure than those with PS and mild OSAS in all sleep stages. Blood pressure in the REM sleep stage was higher than that in other sleep stages in all groups of children. [ABSTRACT FROM AUTHOR]

Importance: Morbidity and mortality of children are important indicators of the performance of the public health system in any country. In China, the children's disease spectrum has gradually changed in recent years. However, the gender‐ and age‐specific disease spectrum for hospitalized children under 15 years old is still unclear. Objective: To explore the gender‐ and age‐based distribution of diseases in hospitalized children under 15 years in China. Methods: Medical records home page data for 2016 to 2018 were collected from 18 tertiary children's hospitals in China. The gender‐ and age‐specific disease spectrum was analyzed, using the tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD‐10). Results: The most common diseases were those of the respiratory system (25.7% of all 2 232 142 hospitalized children). The top three diseases for boys were diseases of the respiratory system (25.6%), diseases of the digestive system (11.4%) and certain conditions originating in the perinatal period (8.6%). The top three diseases for girls were diseases of the respiratory system (25.9%), certain conditions originating in the perinatal period (10.1%), and factors influencing health status and contact with health services (9.4%). The most common diseases for children under 1 year old were certain conditions originating in the perinatal period (38.1%). For all other age groups, the most common conditions were respiratory diseases (33.8% for those aged 1–3 years, 25.2% for those aged 4–6 years, and 12.2% for those aged 7–14 years). Interpretation: This study analyzed the medical records home pages of 18 children's hospitals to provide the first overview of the disease spectrum and its gender‐ and age‐specific distribution among children in China. [ABSTRACT FROM AUTHOR]

Importance: Post‐intubation subglottic stenosis (SGS) in children can be life threatening. Definitive treatment varies and lacks a universally accepted approach. Objective: We performed a prospective study to assess the safety and feasibility of holmium laser combined with cryotherapy delivered via flexible bronchoscopy for the treatment of post‐intubation SGS in children. Methods: This study involved all patients with post‐intubation SGS seen at the Interventional Pulmonology Department of Beijing Children's Hospital between July 2014 and December 2016. Holmium laser treatment and cryotherapy was then performed under flexible bronchoscopy, whose parents refused to accept the alternative standard treatment of tracheotomy and balloon dilation under direct laryngoscopy. Results: Sixteen patients with post‐intubation SGS were included in this study. Ages ranged from 2 months to 12.25 years old. According to the Cotton‐Myer grading system, three cases were Grade II, 12 cases were Grade III, and one case was Grade IV. According to the McCaffrey system, eight cases were Stage 1, two cases were Stage 2, and six cases were Stage 3. The average number of procedures was 4.88. Fifteen of the 16 patients achieved clinical cure. One patient achieved clinical improvement. The average treatment course duration was 55.31 days. No severe complications were seen. Post‐treatment clinical symptoms, endoscopic findings and quality of life showed marked improvement. Interpretation: Our study supports the conclusion that holmium laser treatment combined with cryotherapy via flexible bronchoscopy appears to be a safe and feasible treatment for post‐intubation SGS in children. [ABSTRACT FROM AUTHOR]

A novel colorimetric chemosensor with good sensitivity, specificity, and self-reporting capability for chloramphenicol ( CAP) has been successfully constructed based on colloidal, magnetically assembled photonic crystals coupled with molecular imprinting. The colloidal, magnetically assembled, molecularly imprinted photonic crystals ( CMA- MIPCs) were prepared by assembling CAP in magnetic, molecularly imprinted nanohydrogels ( MMIHs) in a magnetic field. The magnetic assembly of photonic crystals and the sensing processes could be completed simultaneously when MMIHs were dispersed in CAP solutions and in a magnetic field, and the response time was less than 1 min. The CAP concentration could be visually determined from the color change of the CMA- MIPCs sensor. The diffraction color blue-shifted from luminous yellow of the blank to purple in a 1.0 mg/mL CAP solution, with a determination limit of 1.0 × 10−3 mg/mL. It could provide a new strategy for qualitative or semiquantitative detection of CAP. [ABSTRACT FROM AUTHOR]

A supramolecular polycatenane stabilized by outer surface interactions between cucurbit[6]uril (Q[6] or CB[6]) cations and [CdCl4]2− is reported. The arrangement of the poly-interlocked supramolecular framework is evidently constructed by a favorable combination of weak non-covalent interactions such as hydrophobic effects, hydrogen bonding, ion-dipole interactions, and C−H⋅⋅⋅Cl interactions in the solid state. Further study suggests that such 3D poly-interlocked species could be rapidly precipitated from the mixture solution in high yield owing to electrostatic interaction of the [CdCl4]2− anion with the electropositive outer surface of Q[6] host. This work thus demonstrates a simple, low-cost, and efficient non-covalent approach for the construction of a infinite 3D interlocked structure in water besides through coordination or covalent bonds. [ABSTRACT FROM AUTHOR]

ABSTRACT Background and objective The potential prognostic value of cardiovascular magnetic resonance ( CMR)-derived right ventricular ( RV) ejection/filling parameters in the assessment of RV function remains to be fully established. The goal of this study was to explore the prognostic value of these parameters in idiopathic pulmonary arterial hypertension ( IPAH) patients. Methods In this prospective investigation, newly diagnosed IPAH patients without targeted therapy were recruited. Patients underwent right heart catheterization ( RHC), 6-min walk test and CMR imaging within 1 week. Cardiopulmonary haemodynamics derived from RHC, and RV ejection/filling parameters derived from CMR were collected. Results A total of 41 IPAH patients were recruited with the median follow-up time of 824 days. During this period, 13 patients significantly deteriorated and among them, 7 patients died. CMR-derived RV peak ejection rate ( PER) correlated significantly with CMR-derived RV stroke volume index (r = 0.574, P < 0.001) and RV cardiac index (r = 0.611, P < 0.001), but had no significant correlation with RV end diastolic volume index ( EDVI, r = 0.201, P = 0.208) and pulmonary vascular resistance (r = −0.134, P = 0.403). Multivariate Cox regression analysis showed that RV time to PER ( TPER, hazard ratio ( HR) = 1.010, 95% CI: 1.003-1.017, P = 0.005) and RV TPER/time of a cardiac cycle ( TPER/ TCC, HR = 1.085, 95% CI: 1.031-1.141, P = 0.002) were predictors of clinical deterioration after adjusting for N-terminal pro-brain natriuretic peptide ( NT-pro BNP) and RV EDVI. Kaplan-Meier survival analyses showed that patients with RV TPER ≥ 199.01 ms (log rank: P = 0.036) or RV TPER/ TCC ≥ 20.02% (log rank: P = 0.007) had worse prognosis. Conclusion CMR-derived RV TPER and TPER/ TCC can reflect RV early systolic function, and may be promising predictors for long-term prognosis in IPAH patients. [ABSTRACT FROM AUTHOR]

Osmoreception is essential for systemic osmoregulation, a process to stabilize the tonicity and volume of the extracellular fluid through regulating the ingestive behaviour, sympathetic outflow and renal function. The sensation of osmotic changes by osmoreceptor neurons is mediated by ion channels that detect the change of osmolarity in extracellular fluid. However, the molecular identity of these channels remains mysterious. AtCSC1and OSCA1,two closely related paralogues from Arabidopsis, have been demonstrated to form hyperosmolarity activated ion channels, which makes their mammalian orthologues-the members of TMEM63 proteins, possible candidates for osmoreceptor transduction channel. To test this possibility, we cloned the cDNAs of all the three members of the mouse TMEM63 family, TMEM63A, TMEM63B and TMEM63C from the mRNA from mouse brain. When all of the three subtypes of TMEM63 proteins were co-expressed in HEK293 cells, we recorded membrane currents evoked by hypertonic stimulation in these cells. However, the cells expressing the combinations of any two subtypes of TMEM63 proteins could not exhibit any hyperosmolarity evoked currents. Thus, all the three members of TMEM63 proteins are required to constitute a hyperosmolarity activated ion channel. We propose that the TMEM63 proteins may serve as an osmolarity sensitive ion channel for the osmoreception. Copyright © 2016 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Background and objective Pulmonary vascular remodelling and inflammation have been implicated in pulmonary arterial hypertension ( PAH). YKL-40, a marker of tissue remodelling and inflammation, has recently been recognized as a risk predictor of cardiovascular and inflammatory diseases. The study aimed to investigate a potential role of YKL-40 in predicting prognosis in idiopathic PAH ( IPAH). Methods Plasma YKL-40 levels were measured in 82 IPAH patients without current or previous PAH-specific treatment during right heart catheterization and in 54 healthy volunteers. Concurrent data included clinical, haemodynamic and biochemical variables. Results Plasma YKL-40 levels were increased in IPAH patients compared with control subjects (median, interquartile range: IPAH: 24.90, 17.68-39.78 ng/m L; controls: 16.58, 14.20-19.64 ng/m L; P < 0.001). YKL-40 levels correlated with cardiac index ( r = −0.244, P = 0.027) and N-terminal pro-brain natriuretic peptide ( NT-proBNP, r = 0.263, P = 0.017). After a median follow-up of 578 days, YKL-40 outperformed NT-pro BNP, uric acid, and 6-min walk distance in receiver operating characteristic ( ROC) analyses in predicting both clinical worsening (area under the curve ( AUC) 0.681) and death ( AUC 0.717). Compared with patients with YKL-40 below the ROC-derived cut-off point (24.5 ng/m L), the high YKL-40 group showed higher pulmonary vascular resistance and serum uric acid levels, and showed more clinical worsening events and deaths in Kaplan- Meier analyses. Plasma YKL-40 was independently associated with clinical worsening in univariate and multivariate Cox analyses (all P < 0.05). Conclusions Plasma YKL-40 might serve as a promising indicator of disease severity and prognosis in patients with IPAH. [ABSTRACT FROM AUTHOR]

All in a twist: The largest cucurbit[n]uril, namely tQ[14] (see picture; colors indicate sides of the molecule) contains 14 normal glycoluril units linked by 28 methylene bridges. However, it contains a 360° twist. As a consequence, it does not have a normal cavity like the most cucurbit[n]urils, and instead has a folded, figure‐of‐eight conformation. [ABSTRACT FROM AUTHOR]

The favorable effects of short-term use of sildenafil on patients with Eisenmenger syndrome have been reported. We further studied the impact of long-term use of sildenafil on survival of these patients. In this study, the baseline data of patients newly diagnosed as Eisenmenger syndrome in our hospital between January 2005 and December 2009 were retrospectively collected. Patients were followed-up either by telephone contacts or during visits in our out-patient clinic. A total of 121 patients (68 patients in conventional group and 53 patients in sildenafil group) were finally included and 29 patients were re-evaluated after sildenafil therapy for 3-4 months. Compared with the baseline, a 6-minute walk distance, functional classes, plasma hemoglobin level, and hemodynamics were significantly improved after sildenafil treatment. During a median follow-up period of 35.8 months, 15 patients died (11 patients in conventional group). The 1- and 3-year survival rates in sildenafil group were 97.0% and 95.2%, significantly higher than 90.6% and 82.9% in conventional group P = .025). Multivariate analysis showed that sildenafil therapy, functional class and mean pulmonary arterial pressure were independently associated with survival. Therefore, long-term sildenafil therapy improved survival in patients with Eisenmenger syndrome. [ABSTRACT FROM AUTHOR]