RESUMEN
OBJECTIVES: The objective of this study is to explore the clinical diagnosis and treatment of the congenital sternoclavicular sinus in the region of sternoclavicular joint, providing valuable insights for clinical practice in children. METHODOLOGY: A retrospective review of case notes was conducted for all patients treated for congenital sternoclavicular sinus at a tertiary care pediatric otolaryngology practice from January 2022 to September 2023.This review analyzed the clinical presentations, imaging examination, pathological examination, and treatment. RESULTS: A total of 56 patients with congenital sternoclavicular sinus were included in the study, with a mean age of 4.10 ± 2.57 years old. Among these patients, the sinuses were located on the left side in 43 cases,on the right side in 12 cases,and bilaterally in one case.While two patients never experienced inflammation, 54 patients did, and 45 of them underwent incision and drainage before excision. Imaging examination, including ultrasonography and computerized tomography (CT) scans, revealed characteristics such as thickening of subcutaneous tissue,subcutaneous tubular structures or tubercles in front of the clavicle,and irregularly shaped lesions with clear borders and uneven internal low echo, Pathological examination confirmed that the sinuses were lined by squamous epithelium in all patients. CONCLUSIONS: The congenital sternoclavicular sinus may be a remnant of the fourth branchial cleft on the skin side.Complete resection of the sinus during the quiescent phase of inflammation is the recommended curative treatment to prevent recurrent infection.
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Inflamación , Tomografía Computarizada por Rayos X , Niño , Humanos , Lactante , Preescolar , Estudios Retrospectivos , Ultrasonografía , Región Branquial/anomalíasRESUMEN
Congenital sensorineural hearing loss (CSHL) and microtia are development-related diseases, sharing some factors and affecting children's hearing. However, genetic tests only focus on CSHL. We try to identify the common molecular mechanism of CSHL and microtia as candidates combining gene diagnosis biomarkers. Whole-exon sequencing (WES), Sanger sequencing, qPCR, and bioinformatics analyses were performed in microtia family (F1), family two, whose proband suffered from microtia and CSHL (F2), five microtia, and four CSHL individuals, respectively. We found that 40% microtia and 40% CSHL relevant genes were detected in F1 and a sharing pathway: the sensory perception of sound was identified. Moreover, the copy number variation in proband F2 was identified in one gene of the sharing pathway: EYA1. Meanwhile, two variants of BUB3 were identified in F1 data. BUB3 is related to development, dog ear type, direct and indirect interaction with microtia, and CSHL relevant genes. Notably, although the allele frequency of two variants of BUB3 showed significant differences between microtia and CSHL, the special microtia-relevant genotype also could be detected in one CSHL sample. These results suggest that the sensory perception of sound and the development of relevant pathways may be the common pathways of microtia and CSHL. Genes of these pathways can be used as candidates combining gene diagnosis biomarkers.
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Percepción Auditiva , Microtia Congénita , Pérdida Auditiva Sensorineural , Percepción Auditiva/genética , Proteínas de Ciclo Celular/genética , Microtia Congénita/genética , Variaciones en el Número de Copia de ADN , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/genética , Humanos , Péptidos y Proteínas de Señalización Intracelular/genética , Proteínas Nucleares/genética , Proteínas de Unión a Poli-ADP-Ribosa/genética , Proteínas Tirosina Fosfatasas/genéticaRESUMEN
BACKGROUND: As a noninvasive perfusion-weighted MRI technique, arterial spin-labeling (ASL) was becoming increasingly used to evaluate cerebral hemodynamics in many studies. The relation between ASL-MRI and crossed cerebellar diaschisis (CCD) was rarely discussed. In this study, the aim of our study was to assess the performance of ASL-MRI in the detection of crossed cerebellar diaschisis after stroke in compared with single-photon emission CT (SPECT). RESULTS: 17 of 51(33.3%) patients revealed CCD phenomenon by the SPECT method. In CCD-positive group, CBFASL of ipsilateral cerebellar were significantly increased compared with contralateral cerebellar (p < 0.0001) while no significant differences (p = 0.063, > 0.001) in the CCD-negative group. Positive correlation was detected between admission National institute of health stroke scale (NIHSS) and asymmetry index of SPECT (AISPECT) (r = 0.351, p = 0.011), AIASL (r = 0.372, p = 0.007); infract volume and AISPECT (r = 0.443, p = 0.001), AIASL (r = 0.426, p = 0.002). Significant correlation was also found between cerebral blood flow of SPECT (CBFSPECT) and CBFASL, AISPECT and AIASL (r = 0.204, p = 0.04; r = 0.467, p = 0.001, respectively). Furthermore, the area under the receiver operating characteristic (ROC) curve value of AIASL was 0.829. CONCLUSIONS: CBF derived from ASL-MRI could be valuable for assessment of CCD in supratentorial stroke patients. Additionally, CCD was significantly associated with larger ischemic volume and higher initial NIHSS score.
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Enfermedades Cerebelosas/diagnóstico por imagen , Enfermedades Cerebelosas/etiología , Accidente Cerebrovascular Isquémico/complicaciones , Angiografía por Resonancia Magnética/métodos , Anciano , Circulación Cerebrovascular , Femenino , Lateralidad Funcional , Humanos , Masculino , Persona de Mediana Edad , Curva ROC , Sensibilidad y Especificidad , Marcadores de Spin , Tomografía Computarizada de Emisión de Fotón ÚnicoRESUMEN
PURPOSE: The aim of this study was to investigate the characteristic imaging features of giant cell tumours (GCTs) of the mobile spine. MATERIALS AND METHODS: Thirty pathologically proven GCTs of the mobile spine were reviewed. X-ray (n = 18), computed tomography (CT) (n = 24) and magnetic resonance (MR) (n = 21) images were retrospectively evaluated. RESULTS: Five tumours were located in the cervical spine, 15 tumours were located in the thoracic spine and 10 tumours in the lumbar spine. The characteristic X-ray findings included an osteolytic and expansile lesion with a "soap bubble" or purely lytic appearance. Cortical destruction was commonly seen. Margin sclerosis was seen in two lesions. No mineralised tumour matrix or periosteal reaction appeared. The CT findings were similar but outlined the cortical alterations in a more accurate way. The characteristic MR findings included a well-defined and expansile mass with heterogeneous low-to-iso signal intensity on T2-weighted images. Cystic areas were commonly seen in 17 cases. Five cases presented fluid-fluid levels, suggesting the development of aneurysmal bone cyst. The solid portions of the tumours were enhanced with a very heterogeneous signal pattern reflecting high blood supply after contrast-enhanced scan. Tumour involvement in the epidural space occurred in 12 cases, causing spinal cord and/or nerve root compression. Involvement of intervertebral discs and/or adjacent vertebrae appeared in two cases. CONCLUSIONS: Although rare, GCT can occur in the mobile spine as a kind of benign but locally aggressive tumour. Radiologists should be familiar with its characteristic imaging features in order to make a correct diagnosis and to help preoperative evaluations.