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1.
Heliyon ; 10(7): e27681, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38590877

RESUMO

Background: Chronic Rhinosinusitis is a common disease in children. The main function of CFTR is to maintain the thickness of the mucous layer on the surface of the nasal mucosa. CFTR disease-causing variant can cause CFTR protein dysfunction and induce or aggravate chronic infection. However, the carrying status of the CFTR variants in the Chinese population is not clear. Objective: To study the frequency and variants of CFTR in Chinese children with CRS and to analyze the CFTR variants and the clinical characteristics and susceptibility to CRS. Methods: Whole Exome Sequencing was performed to analyze the CFTR genes in a total of 106 CRS children from the Chinese mainland area. The CFTR variants, frequency and clinical data were summarized and analyzed. Results: A total of 31 CFTR variants were detected, of which the carrying rate of 7 sites was significantly higher than that of the population database. 88 patients carried more than 2 variants. 37 people carried variants (MAF < 0.05), of which 91.89% had a history of recurrent upper respiratory infections, 16 had nasal polyps, 5 had bronchiectasis, and 1 was diagnosed with CF-related disorders. Conclusion: The carrying rate of CFTR variants in Chinese CRS children increased, and the highest rates of variants (MAF < 0.05) are p.I556V, p. E217G, c.1210-12[T]. Carrying multiple CFTR variants, especially p.E217G, p.I807 M, p.V920L and c.1210-12[T] may lead to increased susceptibility to CRS. There are CF-related disorders in patients with CRS.

3.
Pediatr Investig ; 7(1): 23-28, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36967735

RESUMO

Importance: The safety and efficacy of the bath-plug technique for the closure of cerebrospinal fluid (CSF) leaks in children remain unknown. Objective: We undertook this study to ascertain whether the bath-plug technique was safe and effective for the repair of CSF leaks. Methods: We retrospectively reviewed patients who underwent endoscopic repair of CSF leaks with the fat graft as a plug-in at Beijing Children's Hospital from March 2016 to May 2020. Demographic data, medical history, defect sites and sizes, interventions, and clinical outcomes were analyzed. One representative clinical case was additionally selected to highlight the procedure and the healing process. Results: A total of 18 pediatric patients were included in this study. The group was composed of 11 boys and seven girls, aged from 5 to 123 months. The etiologies included congenital CSF leaks (n = 9) and head trauma (n = 9). Among all patients, 12 fistulas (66.7%) were located at the cribriform plate area, two (11.1%) at the roof of the ethmoid sinuses, two (11.1%) in the sphenoid sinus, and two (11.1%) at the frontal sinus. The maximum diameters of fistulas ranged from 5 to 20 mm, with a median value of 8 mm. Encephaloceles were identified in 14 (77.8%) patients. No hydrocephalus was recognized. All CSF leaks were successfully repaired with a bath-plug technique. Follow-up ranged from 50 to 70 months. No surgical complications were encountered in any patient. Interpretation: Bath-plug technique is safe and reliable for the endoscopic management of CSF leaks in children. Meticulous peri-operative preparations are important for pediatric patients.

4.
Eur Arch Otorhinolaryngol ; 280(7): 3237-3247, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36662267

RESUMO

BACKGROUND: Ionocytes are rare cells in airway epithelium characterized by a high expression of CFTR. OBJECTIVES: To investigate the morphology and distribution of ionocytes and the function of CFTR in the nasal mucosal epithelium of children. METHODS: The exfoliated cells of nasal mucosa from 101 children were detected using flow cytometry to analyze the number of ionocytes and CFTR and the difference of CFTR function. Nasal mucosa and polyps were collected from 10 children with CRSwNP. The RNAscope of FOXI1 and CFTR was detected in pathological paraffin sections. The expression and distribution of ionocytes and CFTR in nasal mucosa and polyp epithelium were observed. RESULTS: In CRS patients, the number of ionocytes in the nasal epithelium was lower and the number of ionocytes that did not express CFTR was higher, and the function of CFTR was also decreased. The expression of CFTR in the nasal mucosa of CRS showed the characteristics of local dense distribution and increased as the inflammation expanded. The ionocytes were "tadpole-shaped" in the epithelium and gathered in the area of high CFTR expression, the intracellular CFTR was expanded in clusters. Ionocytes that did not express CFTR was more common in the nasal polyps. CONCLUSIONS: The number of ionocytes and the function of CFTR in nasal mucosa of CRS patients decreased. With the expansion of inflammation, CFTR and ionocytes showed more obvious dense distribution. Some ionocytes lost the expression of CFTR and did not show the "tadpole" shape, which may be related to the occurrence of polyps.


Assuntos
Pólipos Nasais , Rinite , Sinusite , Humanos , Criança , Rinite/metabolismo , Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Sinusite/patologia , Mucosa Nasal/patologia , Pólipos Nasais/patologia , Inflamação/patologia , Doença Crônica , Fatores de Transcrição Forkhead
5.
Brain Topogr ; 36(1): 72-86, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36258117

RESUMO

To examine the difference in the topological properties of brain functional network between the children with obstructive sleep apnea (OSA) and healthy controls, and to explore the relationships between these properties and cognitive scores of OSA children. Twenty-four OSA children (6.5 ± 2.8 years, 15 males) and 26 healthy controls (8.0 ± 2.9 years, 11 males) underwent resting-state fMRI (rs-fMRI), based on which brain functional networks were constructed. We compared the global and regional topological properties of the network between OSA children and healthy controls. Partial correlation analysis was performed between topological properties and cognitive scores across OSA children. When comparing the OSA children with the healthy controls, lower full-scale intelligent quotient (FIQ) and verbal intelligent quotient (VIQ) were observed. Additionally, nodal degree centrality decreased in the bilateral anterior cingulate and paracingulate gyrus, but increased in the right middle frontal gyrus, the left fusiform gyrus, and the left supramarginal gyrus. Nodal efficiency decreased in the right precentral gyrus, and the bilateral anterior cingulate and paracingulate gyrus, but increased in the left fusiform gyrus. Nodal betweenness centrality increased in the dorsolateral part of the right superior frontal gyrus, the left fusiform gyrus, and the left supramarginal gyrus. Further, the nodal degree centrality in the left supramarginal gyrus was positively correlated with FIQ. In contrast, none of global topological properties showed difference between those two groups. The outcomes of OSA may impaired the regional topological properties of the brain functional network of OSA children, which may be potential neural mechanism underlying the cognitive declines of these patients.


Assuntos
Imageamento por Ressonância Magnética , Apneia Obstrutiva do Sono , Masculino , Humanos , Criança , Encéfalo/diagnóstico por imagem , Apneia Obstrutiva do Sono/diagnóstico por imagem , Mapeamento Encefálico , Córtex Pré-Frontal
6.
Ear Nose Throat J ; 102(12): 780-786, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36269763

RESUMO

OBJECTIVE: We aimed to investigate the difference between the bacterial profiles of the nasal cavities and adenoid surfaces of children with chronic rhinosinusitis (CRS). We also intended to determine and analyze the potential correlation between the pre- and post-adenoidectomy differences in the nasal bacterial profile and clinical prognosis. METHODS: The clinical information of pediatric patients was collected. All the children underwent adenoidectomy (with or without tonsillectomy), and swab samples were collected during the operation. Visual analog scales (VAS) were used at 3, 6, and 12 months postoperatively. At the 12-month follow-up examination, swab samples were collected again. PCR amplification was performed of the v3-v4 variable regions of 16S rRNA of the collected specimens, as well as high-throughput sequencing using the Illumina platform. The species information was obtained by OTUs clustering, species annotation, and α-diversity analysis. RESULTS: Twenty-two male and eight female pediatric patients were included in the investigation The most abundant genus level bacterial representatives on the nasal surface before adenoidectomy were Moraxella catarrh, Streptococcus pneumoniae, Haemophilus influenzae, and Staphylococcus aureus, whereas on the surface of adenoids, they were Streptococcus pneumonia, Haemophilus influenza, Nucleobacter, and Moraxella catarrhalis. One year postoperatively, the bacteria with the highest abundance on the nasal surface at the genus level were Moraxella catarrhalis, Streptococcus pneumonia, Staphylococcus aureus, and non-culturable Dolosigranulum. One year postoperatively, the bacterial richness in the nasal cavity was significantly higher than at baseline (P < .05). Furthermore, the subjective nasal score of all children significantly decreased at 3, 6, and 12 months postoperatively (P < .01). CONCLUSION: The preoperative bacterial abundance of the nasal cavity and the adenoid surfaces was similar, showing a clear correlation. No single specific bacterium was established to be a dominant species associated with the development of CRS in children. The post-adenoidectomy bacterial richness in the nasal cavity was significantly increased, which may be closely related to the relief of postoperative sinusitis symptoms.


Assuntos
Tonsila Faríngea , Sinusite , Infecções Estafilocócicas , Humanos , Criança , Masculino , Feminino , Adenoidectomia , RNA Ribossômico 16S , Sinusite/cirurgia , Sinusite/microbiologia , Bactérias , Moraxella catarrhalis , Infecções Estafilocócicas/cirurgia
7.
Ear Nose Throat J ; 102(4): 231-238, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35428416

RESUMO

INTRODUCTION: Aneurysmal bone cysts (ABCs) are a rare benign bone lesion, which are divided into primary and secondary categories, and occur mainly in the vertebra and the long tubular bones. Primary ABCs in the nasal cavity and the sinuses are rare. CASE PRESENTATION: We reported on a one-year-old boy who suffered from progressive nasal obstruction and intermittent nosebleeds over a period of approximately 1 month. The patient had no history of trauma or surgery. Physical examination showed a red tumor in his right nasal cavity. A magnetic resonance imaging scan showed a multicystic lesion arising from the ethmoid sinus. The lesion was resected under a nasal endoscope without any complications. Histological evaluation confirmed that the lesion was an aneurysmal bone cyst. Because an osteoma was found during the surgery on the cyst, the lesion was considered secondary clinically. However, fluorescence in situ hybridization testing showed a rearrangement of the USP6 (ubiquitin-specific protease 6) oncogene on chromosome 17. No recurrence was observed after 1 year. CONCLUSION: An ABC of the nasal cavity and sinuses in such a young child is very rare and needs to be further analyzed according to postoperative pathology and combined with a genetic examination to make a diagnosis. Endoscopic sinus surgery is an effective method of treatment for this kind of disease.


Assuntos
Cistos Ósseos Aneurismáticos , Obstrução Nasal , Masculino , Humanos , Criança , Lactente , Cavidade Nasal/patologia , Cistos Ósseos Aneurismáticos/diagnóstico por imagem , Cistos Ósseos Aneurismáticos/cirurgia , Hibridização in Situ Fluorescente , Nariz/patologia , Obstrução Nasal/patologia , Ubiquitina Tiolesterase/genética
8.
Artigo em Chinês | MEDLINE | ID: mdl-36347578

RESUMO

Objective:To review the clinical and radiological presentation and management of infected nasal dermal sinus cysts(NDSC) in children. Methods:Clinical data were collected from 59 NDSC children with secondary fronto-orbital area infection who presented to Beijing Children's Hospital from January 2007 to December 2021. All patients underwent preoperative imaging workup, including MRI and CT. All patients underwent endoscopic excision of a NDSC under general anesthesia. Results:A total of 59 patients were included in the study,while 58 presented with a sinus, 1 presented with a cyst.The main lesions of NDSC included nasal root in 20 cases (33.9%), nasal bridge in 34 cases (57.6%), nasal tip in 4 cases (6.8%), and nasal tip and nasal root in 1 case (1.7%). The depth of lesions included 6 cases (10.2%) of superficial type of nasal frontal bone, 33 cases (55.9%) of nasal frontal bone, 19 cases (32.2%) of intracranial epidural type, and 1 case (1.7%) of intracranial epidural type. The main sites of infection included inner canthus in 15 cases (25.4%), nasal dorsum in 22 cases (37.3%), nasal root in 16 cases (27.1%), and forehead in 6 cases (10.2%). Among 59 cases, 7 cases (11.9%) were complicated with other diseases, and 4 cases(6.8%) had external nasal deformities. Surgical approaches included transverse incision in 12 cases(20.3%), minimal midline vertical incision in 41 cases (69.5%), external rhinoplasty in 4 cases (6.8%) and bicoronal incision with vertical incision in 2 cases (3.4%). The range of lesions was completely consistent with MRI results.All cases were successfully operated without one-stage nasal dorsum reconstruction. All patients were followed up from 7 to 173 months(average 52.2 months). There were 6 cases of recurrence, all of which were in situ recurrence. The operation was performed again, and no recurrence has occurred since the follow-up, No nasal deformity was noted, and cosmetic outcome were favorable for all patients. Conclusion:NDSC infection in children with midfacial infection as the first symptom is rare in clinical practice, and its manifestations are diverse. Early diagnosis and rational treatment are very important to improve the cure rate.Preoperative high resolution MRI combined with CT scanning is of great significance in judging the course of NDSC, especially the intracranial extension. The treatment goal is to achieve minimally invasive and individualized treatment under the premise of complete excision of the lesion, and take into account the cosmetic needs.


Assuntos
Cisto Dermoide , Neoplasias Nasais , Doenças dos Seios Paranasais , Rinoplastia , Espinha Bífida Oculta , Criança , Humanos , Cisto Dermoide/diagnóstico , Cisto Dermoide/patologia , Cisto Dermoide/cirurgia , Neoplasias Nasais/cirurgia , Espinha Bífida Oculta/cirurgia , Doenças dos Seios Paranasais/cirurgia
9.
Pediatr Allergy Immunol ; 33(2): e13738, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35212036

RESUMO

BACKGROUND: There are a limited number of validated questionnaires available for use in the clinical screening for allergic rhinitis (AR) in children ≤3 years old. We developed a novel self-reported questionnaire and assessed its accuracy and reliability. METHODS: After establishing a pool of items, which were screened by experts, the Young Children Allergic Rhinitis Questionnaire (YCAR-Q) was administered to a birth cohort in the Shunyi District (Beijing, China). The electronic version of the YCAR-Q was distributed through the online community. Children were invited to visit a physician for examination. The diagnostic criteria included symptoms, physical examination findings, and specific serum immunoglobulin E tests. Each item on the questionnaire was evaluated, and the questionnaire's internal consistency, content validity, criterion-related validity, and diagnostic accuracy were assessed. RESULTS: The six-item YCAR-Q was distributed to 7423 parents, and 3037 valid questionnaires were recovered. In total, 1521 children visited a physician for examination, of which 82 were found to have AR. In terms of internal consistency, Cronbach's coefficient was 0.777 and all six questionnaire items were retained. The average scale-level content validity index value was 1. The area under the curve was 0.759. The total scores ranged from 0 to 6, and the cutoff value for diagnosing AR was 3, with a sensitivity of 68.29% and a specificity of 76.58%. CONCLUSIONS: This cross-sectional study indicated that the YCAR-Q could detect AR in children ≤3 years old. This brief and simple test may be used effectively in clinical practice.


Assuntos
Rinite Alérgica , Criança , Pré-Escolar , Estudos Transversais , Humanos , Programas de Rastreamento , Reprodutibilidade dos Testes , Rinite Alérgica/diagnóstico , Rinite Alérgica/epidemiologia , Inquéritos e Questionários
10.
Ear Nose Throat J ; 101(7): NP284-NP290, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33076719

RESUMO

BACKGROUND: The pathologic features and potential predictive biomarkers for recurrence of antrochoanal polyps (ACPs) in children are not fully understood. OBJECTIVES: To identify the pathologic differences between recurrent and nonrecurrent group and to explore potential clinical markers which predict recurrence of ACPs in children. MATERIAL AND METHODS: A total of 11 recurrent and 21 nonrecurrent ACPs children were enrolled into this retrospect study. Clinical basic information was collected before the first surgery. The counts of vessels were evaluated by hematoxylin-eosin (HE) staining, and CD34 was detected by immunohistochemistry. Meanwhile, the percentage of each tissue inflammatory cells (eosinophils, neutrophils, lymphocytes, and plasma cells) was assessed by HE staining. RESULTS: No statistical significance was observed between the 2 groups in the basic clinical features. Moreover, both the counts of blood vessels and the tissue neutrophils percentage were enhanced significantly in group with ACPs recurrence (P < .05). According to the receiver operating characteristic curves, the area under the curve for the counts of blood vessels and tissue neutrophils percentage in the prediction of ACPs' recurrence was 0.779 (P = .0105) and 0.989 (P < .0001) respectively. CONCLUSIONS AND SIGNIFICANCE: It was concluded that the counts of blood vessels and the percentage of tissue neutrophils appeared to be potential excellent predictors of ACPs recurrence in children.


Assuntos
Pólipos Nasais , Neutrófilos , Criança , Eosinófilos/patologia , Humanos , Contagem de Leucócitos , Pólipos Nasais/cirurgia , Neovascularização Patológica , Recidiva
11.
J Invest Surg ; 35(2): 263-267, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33283571

RESUMO

Purpose The cervicothoracic junction (CTJ) lesions in children is rare. Surgical treatment for lesions at the cervicothoracic junction is challenging due to the presence of the great vessels and other thoracic structures. There are no criteria that help select a surgical approach to manage cervicothoracic lesions in children so far. This study focuses on the cervicothoracic junction lesions in children(C7-T4) and provides experience for the appropriate surgical approach for them.Methods: This retrospective study enrolled 18 children with cervicothoracic junction lesions who underwent surgical treatment in our Hospital from January 2015 to September 2019. They were evaluated with preoperative CT or MR imaging and diagnosed postoperatively by pathological examination.Results: This study included 2 patients with congenital lesions, 4 patients with benign lesions, and 12 patients with malignant lesions. Lesions with a margin below C7-T3, including benign and malignant tumors could be resected using a simple low anterior cervical approach (LACA). Congenital lesions and benign lesions with a margin below T4 could also be treated with this approach. Two-thirds of the malignant lesions below T4 were resected through the LACA combined with video-assisted thoracoscopic surgery (VATS). 1 patient with malignant lesion extending to T4 was removed by the LACA combined with posterolateral thoracotomy.Conclusions: The lesions at the cervicothoracic junction (C7-T4) in children may be managed with the simple LACA used in most patients. For malignancies extending to the T4 level, LACA and VATS could be performed in combination to resect lesions completely and invasively.


Assuntos
Vértebras Cervicais , Vértebras Torácicas , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Criança , Humanos , Imageamento por Ressonância Magnética , Estudos Retrospectivos , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/cirurgia
13.
Eur Thyroid J ; 10(5): 364-371, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34540706

RESUMO

OBJECTIVES: The objectives of this study were to explore the clinical heterogeneity of differentiated thyroid cancer (DTC) between prepubertal children and adolescents and guide clinical treatment. METHODS: A retrospective study included patients with DTC aged ≤19 years in Beijing Children's Hospital from June 2014 to June 2019. All patients were enrolled and divided into 2 subgroups based on the threshold age of 10 years, namely the childhood group (CG) (≤10 years old); and the adolescent group (AG) (between 10 and 19 years old). The χ2 test and Fisher's exact test were used to estimate the effect of risk factors in the 2 age groups. Multivariate binary logistic regression models were conducted to assess the recurrent risk factors. RESULTS: Seventy cases of DTC were included with an average age of 9.94 ± 2.88 years, including 35 in CG and 35 in AG. The most common clinical manifestation was a painless mass in the neck, accounting for 77.1% (54/70) of patients. Compared with the AG, the CG was more likely to have lymph node metastasis (p = 0.022) and distant metastasis (p = 0.041). The CG was more likely to have extrathyroidal extension (p = 0.012) and had a significantly higher recurrence rate than the AG (p = 0.040). Age was an independent variable predictive of recurrence (p = 0.0347). CONCLUSION: Regional invasiveness, cervical lymph node metastasis, and distant metastasis of DTC were more likely to occur in children ≤10 years old. Meanwhile, children ≤10 years old with DTC were more likely to have recurrence than adolescent's postsurgical treatment. Thus, children younger than 10 years of age with DTC should be treated more aggressively.

14.
J Otolaryngol Head Neck Surg ; 50(1): 51, 2021 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-34384505

RESUMO

BACKGROUND: Multiple surgical approaches have been proposed to repair the congenital choanal atresia. However, there remains no general consensus about the optimal surgical technique. This study aimed to describe and evaluate outcomes of the endoscopic septonasal flap technique combined with bioabsorbable steroid-eluting stents for repair of congenital choanal atresia in neonates and infants. METHODS: Clinical data of 37 neonates and infants with congenital choanal atresia who received nasal endoscopic surgery with the flap technique between January 2018 and July 2020 were analyzed retrospectively. All patients underwent the ultra­low­dose paranasal sinus computed tomography imaging preoperatively to confirm diagnosis and plan the surgery. In these patients, the mirrored L-shaped flap technique was performed for bilateral atresia and the cross-over L-shaped flap technique was performed for unilateral atresia. A total of 22 patients had silicone stents postoperatively and 15 patients had bioabsorbable steroid-eluting stents postoperatively. Silicone stents were removed at one month postoperatively under secondary general anesthesia, while no anesthesia was needed to remove the bioabsorbable steroid-eluting stents. Postoperative follow-up ranged from 10 months to 3 years. RESULTS: The septonasal flap technique was performed in all patients. Compared with the silicone stents group, the average operative duration and the hospital length of stay in the bioabsorbable steroid-eluting stents group were decreased [(97.46 ± 15.37) min vs (83.49 ± 19.16) min t = 13.733, P < 0.001] [(12.8 ± 3.22) d vs (7.67 ± 3.91) d t = 15.082, P < 0.001], the average number of procedures was reduced [(2.04 ± 0.64) vs (1.00 ± 0.001), t = 82.689, P < 0.001], the differences were statistically significant. There were no reports of postoperative restenosis and complications in the bioabsorbable steroid-eluting stents group, and follow-up endoscopic examinations showed patency and stable nasal passages in all cases. CONCLUSIONS: The endoscopic septonasal flap technique can effectively expose and expand the choanal bony structure for repair of congenital choanal atresia in neonates and infants. The combined use of this technique along with bioabsorbable steroid-eluting stents can help prevent the need for revision procedures and also against stent-related injuries.


Assuntos
Atresia das Cóanas , Stents Farmacológicos , Implantes Absorvíveis , Atresia das Cóanas/cirurgia , Endoscopia , Humanos , Lactente , Recém-Nascido , Septo Nasal , Estudos Retrospectivos , Stents , Esteroides , Resultado do Tratamento
15.
Sleep Med ; 82: 134-143, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33915429

RESUMO

OBJECTIVES: To investigate alterations in neurocognitive, attention, paediatric sleep questionnaire (PSQ) scores and whole brain white matter (WM) integrity between children with mild and severe obstructive sleep apnoea (OSA) according to sex and whether these changes are associated with OSA severity. METHODS: Fifty-seven children (36 males and 21 females) diagnosed with OSA were recruited for this study. Children of both sexes were divided into mild (male-MG, female-MG) and severe (male-SG, female-SG) groups according to OSA severity. Polysomnography (PSG), neurocognitive, attention and PSQ tests were compared between groups by one-way samples analysis of variance (ANOVA) F test. Diffusion tensor imaging (DTI) was scanned using a 3T GE MRI scanner and analysed by Tract-based Spatial Statistics (TBSS). Spearman correlation was calculated between DTI Eigenvalues and clinical characteristics. RESULTS: Compared to mild OSA patients, severe OSA patients presented greater severity of obstructive apnoea hypopnea index (OAHI), neurocognition, PSQ and attention tests in both male and female patients. Brain WM integrity in the male-SG, compared to the male-MG, demonstrated significantly reduced fractional anisotropy (FA) values in the right middle frontal gyrus and the right frontal sub-gyral regions and increased axial diffusivity (AD) values in the right inferior frontal gyrus, left parietal angular gyrus and sub-gyral regions, while no differences were found between the female-MG and female-SG. Alterations in male-SG brain regions were observably correlated with severity in male OSA patients. CONCLUSIONS: The integrity of WM, which regulates autonomic, cognitive, and attention functions, is impaired in male, but not female, children with severe OSA.


Assuntos
Apneia Obstrutiva do Sono , Substância Branca , Encéfalo/diagnóstico por imagem , Criança , Imagem de Tensor de Difusão , Feminino , Humanos , Masculino , Polissonografia , Apneia Obstrutiva do Sono/diagnóstico por imagem , Substância Branca/diagnóstico por imagem
16.
Pediatr Investig ; 5(1): 69-72, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33778431

RESUMO

INTRODUCTION: Nasal glial heterotopia is a rare congenital developmental disorder characterized by meningeal epithelium and/or glial components. CASE PRESENTATION: A 2-month-old boy presented for treatment of a congenital mass in the right nasal cavity near the pharynx. The preoperative diagnosis was congenital intranasal neoplasm. Nasal endoscopic resection of the nasopharyngeal mass was performed under general anesthesia. Histological findings in the resected tissue supported a diagnosis of intranasal glial heterotopia. The surgical outcome was good and no surgical site infection occurred. During 1 year of follow-up, the patient did not exhibit recurrence of heterotopia or related symptoms. CONCLUSION: Transnasal endoscopic surgery is recommended for patients with intranasal glial heterotopia. Thorough preoperative imaging should be performed before glioma resection. The mass should be differentiated from encephalocele to prevent cerebrospinal fluid leakage and meningitis.

17.
Chest ; 159(5): 1768-1781, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33577779

RESUMO

BACKGROUND: Primary ciliary dyskinesia (PCD) is a heterogeneous disease with a diverse clinical and genetic spectrum among populations worldwide. Few cases of pediatric PCD have been reported from China. RESEARCH QUESTION: What are the clinical and genotypic characteristics of children with PCD in China? STUDY DESIGN AND METHODS: Clinical characteristics, laboratory findings, and genetic results obtained for 75 patients with PCD were reviewed retrospectively at a single center in China. Genetic sequencing was conducted using whole-exome screening. RESULTS: Patient median age at diagnosis was 7.0 years (range, 2 months-14 years). Of 75 patients, 88% (66/75) had chronic wet cough, 77% (58/75) had recurrent sinusitis, 76% (57/75) had bronchiectasis, 40% (30/75) had neonatal respiratory distress, and 28% (21/75) had coexistent asthma. Notably, postinfectious bronchiolitis obliterans (PIBO) as first presentation was found in 8% of children (6/75). Genes with the highest incidence of mutations were DNAH11 (15/51), followed by DNAH5 (9/51), CCDC39 (5/51), DNAH1 (4/51), and CCNO (3/51). Four genes (DNAI1, HEATR2, RSPH9, and DNAAF3) each were respectively found in two patients, and seven genes (CCDC40, LRRC6, SPAG1, RSPH4A, ARMC4, CCDC114, and DNAH14, a novel gene) each were mutated once. No differences in classical clinical features were observed among patients with commonly observed PCD-associated genotypes. However, three of six PIBO patients carried DNAH1 mutations. INTERPRETATION: Besides typical clinical features, PIBO was observed as the first presentation of pediatric PCD in China. An association of the novel gene DNAH14 with PCD was observed, expanding the PCD genotypic spectrum.


Assuntos
Transtornos da Motilidade Ciliar/genética , Dineínas/genética , Adolescente , Criança , Pré-Escolar , China/epidemiologia , Transtornos da Motilidade Ciliar/epidemiologia , Feminino , Genótipo , Humanos , Lactente , Masculino , Estudos Retrospectivos
18.
Clin Immunol ; 222: 108641, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33271370

RESUMO

The mechanism of the characteristic intermittent hypoxia (IH) of obstructive sleep apnea syndrome (OSAS) on monocyte remain unclear. Our study found that OSAS children had a significantly upregulated expression in circulating proinflammatory cytokines IL-6 and IL-12, and endothelial injury markers VEGF and ICAM1. Association analysis revealed that the plasma TNFα, IL-1ß, IL-6, IL-10 and IL-12 concentration were negatively associated with the minimal SpO2, a negative index for disease severity. OSAS monocytes presented an inflammatory phenotype with higher mRNA levels of inflammatory cytokines. Importantly, we noted a significant decrease in T-cell immunoglobulin and mucin domain (Tim)-3 expression in OSAS monocytes with the increase of the plasma proinflammatory cytokines. In vitro assay demonstrated that IH induced THP-1 cell overactivation via NF-κB dependent pathway was inhibited by the Tim-3 signal. Our results indicated that activation of monocyte inflammatory responses is closely related to OSAS-induced IH, and negatively mediated by a Tim-3 signaling pathway.


Assuntos
Receptor Celular 2 do Vírus da Hepatite A/metabolismo , Hipóxia/patologia , Monócitos/metabolismo , Apneia Obstrutiva do Sono/patologia , Receptor Celular 2 do Vírus da Hepatite A/genética , Humanos , Inflamação/imunologia , Molécula 1 de Adesão Intercelular/sangue , Subunidade p35 da Interleucina-12/sangue , Interleucina-6/sangue , Transdução de Sinais , Fator A de Crescimento do Endotélio Vascular/sangue
20.
Medicine (Baltimore) ; 99(29): e21200, 2020 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-32702883

RESUMO

RATIONALE: Nasal glial heterotopia is a rare type of neoplasm consisting of meningothelial and/or neuroglial elements. PATIENT CONCERNS: A 2-month-old male was evaluated for treatment of a congenital mass in the right nasal cavity near the pharynx. DIAGNOSES: The patient was preoperatively diagnosed with a congenital intranasal neoplasm. INTERVENTIONS: Nasal endoscopic resection of the nasopharyngeal mass was performed under general anesthesia. Histological examination of the resected tissue provided a diagnosis of intranasal glial heterotopia. OUTCOMES: The surgical outcome was good, with no surgical site infection. After 1 year of follow-up, the boy was asymptomatic with no recurrence. LESSONS: Excision of a nasopharyngeal mass via nasal endoscopy resulted in no recurrence during 1 year of follow-up. Before any surgical treatment for suspected glial heterotopia, the mass should be differentiated clinically and radiologically from an encephalocele to prevent the risk of cerebrospinal fluid leakage and meningitis.


Assuntos
Glioma/diagnóstico , Cavidade Nasal/anormalidades , Endoscopia/métodos , Glioma/patologia , Humanos , Lactente , Masculino , Cavidade Nasal/fisiopatologia , Cavidade Nasal/cirurgia , Obstrução Nasal/etiologia , Obstrução Nasal/cirurgia , Tomografia Computadorizada por Raios X/métodos
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