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1.
J Appl Clin Med Phys ; 25(8): e14442, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38922790

RESUMEN

PURPOSE: To propose radiomics features as a superior measure for evaluating the segmentation ability of physicians and auto-segmentation tools and to compare its performance with the most commonly used metrics: Dice similarity coefficient (DSC), surface Dice similarity coefficient (sDSC), and Hausdorff distance (HD). MATERIALS/METHODS: The data of 10 lung cancer patients' CT images with nine tumor segmentations per tumor were downloaded from the RIDER (Reference Database to Evaluate Response) database. Radiomics features of 90 segmented tumors were extracted using the PyRadiomics program. The intraclass correlation coefficient (ICC) of radiomics features were used to evaluate the segmentation similarity and compare their performance with DSC, sDSC, and HD. We calculated one ICC per radiomics feature and per tumor for nine segmentations and 36 ICCs per radiomics feature for 36 pairs of nine segmentations. Meanwhile, there were 360 DSC, sDSC, and HD values calculated for 36 pairs for 10 tumors. RESULTS: The ICC of radiomics features exhibited greater sensitivity to segmentation changes than DSC and sDSC. The ICCs of the wavelet-LLL first order Maximum, wavelet-LLL glcm MCC, wavelet-LLL glcm Cluster Shade features ranged from 0.130 to 0.997, 0.033 to 0.978, and 0.160 to 0.998, respectively. On the other hand, all DSC and sDSC were larger than 0.778 and 0.700, respectively, while HD varied from 0 to 1.9 mm. The results indicated that the radiomics features could capture subtle variations in tumor segmentation characteristics, which could not be easily detected by DSC and sDSC. CONCLUSIONS: This study demonstrates the superiority of radiomics features with ICC as a measure for evaluating a physician's tumor segmentation ability and the performance of auto-segmentation tools. Radiomics features offer a more sensitive and comprehensive evaluation, providing valuable insights into tumor characteristics. Therefore, the new metrics can be used to evaluate new auto-segmentation methods and enhance trainees' segmentation skills in medical training and education.


Asunto(s)
Procesamiento de Imagen Asistido por Computador , Neoplasias Pulmonares , Radiómica , Tomografía Computarizada por Rayos X , Humanos , Algoritmos , Bases de Datos Factuales , Procesamiento de Imagen Asistido por Computador/métodos , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/radioterapia , Neoplasias Pulmonares/patología , Interpretación de Imagen Radiográfica Asistida por Computador/métodos , Planificación de la Radioterapia Asistida por Computador/métodos , Radioterapia de Intensidad Modulada/métodos , Tomografía Computarizada por Rayos X/métodos
2.
J Sleep Res ; 32(4): e13871, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-36914164

RESUMEN

The present research aimed to investigate, for the first time, the validity and reliability of the Sleep Disturbance Scale for Children (SDSC) in a sample of 2733 Spanish children aged 6-16 years. We also described the prevalence and sociodemographic correlates of sleep disorder symptoms among young people, which had never been studied in Spain. Confirmatory factor analysis supported the original six-factor model and Cronbach's alpha for the total questionnaire was 0.82, which indicated good reliability. Moreover, all the SDSC subscales correlated positively and significantly with the total score (range = 0.41-0.70), thus showing convergent validity. Considering T-scores >70 as pathological, we identified at least one sleep disorder in 116 participants (4.24%), including disorders of excessive somnolence (DOES; 5.82%), sleep-wake transition disorders (SWTD; 5.27%), and disorders of initiating and maintaining sleep (DIMS; 5.09%) among the most common problems. Students in secondary education and those from families with a low socioeconomic status were more likely to have DIMS, disorders of arousal, and DOES. Subjects with clinically elevated levels of sleep breathing disorders were more frequently of foreign origin and from disadvantaged families. Boys and primary school students were more prone to sleep hyperhidrosis, while SWTD were overrepresented among children with a low socioeconomic status. According to our results, the Spanish version of the SDSC seems to be a good instrument for assessing sleep disturbances in school-age children and adolescents, which is essential to prevent the significant implications of poor sleeping on the overall welfare of young people.


Asunto(s)
Trastornos del Sueño-Vigilia , Masculino , Adolescente , Humanos , Niño , Psicometría , Prevalencia , Reproducibilidad de los Resultados , Trastornos del Sueño-Vigilia/diagnóstico , Trastornos del Sueño-Vigilia/epidemiología , Trastornos del Sueño-Vigilia/complicaciones , Sueño , Encuestas y Cuestionarios
3.
Am J Med Genet A ; 185(5): 1421-1429, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33650172

RESUMEN

Sleep disorders are frequent in tuberous sclerosis complex (TSC) during the developmental age but are not well characterized. Forty-six TSC patients and 46 healthy age- and sex-matched controls were enrolled. Their parents completed the Sleep Disturbances Scale for Children (SDSC) and the Child Behavior Checklist (CBCL). A total of 17.4% of the TSC patients obtained a total pathologic score at the SDSC versus 4.4% in the control group (p = 0.024). 45.7% of individuals with TSC reported a pathologic score in at least one of the factors. We found a statistically significant difference between the TSC cohort and healthy controls for most of the CBCL scales scores. A significant relationship was found between the Total SDSC score and the Total CBCL score (R-square = 0.387, p < 0.0001), between the Total SDSC score and the Internalizing and Externalizing areas scores (R-square = 0.291, p < 0.0001 and R-square = 0.350, p < 0.0001, respectively) of the CBCL. Sleep disorders are more frequent in TSC than in the general population and correlate with behavior. The use of SDSC and CBCL is proposed as part of the surveillance of TSC patients in the developmental age.


Asunto(s)
Trastornos de la Conducta Infantil/fisiopatología , Trastornos del Sueño-Vigilia/fisiopatología , Sueño/fisiología , Esclerosis Tuberosa/fisiopatología , Adolescente , Niño , Trastornos de la Conducta Infantil/complicaciones , Trastornos de la Conducta Infantil/epidemiología , Preescolar , Estudios de Cohortes , Femenino , Humanos , Masculino , Padres , Trastornos del Sueño-Vigilia/complicaciones , Trastornos del Sueño-Vigilia/epidemiología , Encuestas y Cuestionarios , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/epidemiología
4.
Epilepsy Behav ; 106: 107014, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32229412

RESUMEN

Sleep and epilepsy interact with each other in a complex bidirectional way. The main objective of this study was to characterize and determine the prevalence of sleep and behavioral disorders among Italian children and adolescents with epilepsy. We asked 84 consecutive parents/caregivers of patients with epilepsy aged between 6 and 17 years old to fill out the Sleep Disturbances Scale for Children (SDSC) and Child Behavior Checklist (CBCL). An abnormal total sleep score was found in 20 subjects with epilepsy (23.8%), compared with 4 (4.4%) of control group (P < .001). Forty-eight patients (57.1%) had an abnormal score in at least one SDSC factor: disorders in initiating and maintaining sleep (DIMS; 13.1%), sleep breathing disorders (SBD; 13.1%), disorders of arousal (DA; 5.9%), sleep-wake transition disorders (SWTD; 15.5%), disorders of excessive somnolence (DOES; 20.2%), and sleep hyperhidrosis (SHY; 5.9%). Patients with epilepsy showed higher prevalence of behavioral/emotional disturbances in all CBCL domains but one compared with patients without epilepsy. The SDSC and CBCL total scores showed a significant correlation (R-square = 0.256; P < .001). Sleep and behavioral/emotional disorders are common in epilepsy during childhood and adolescence. The SDSC could be a valid tool to screen sleep disturbances in this group of patients.


Asunto(s)
Epilepsia/epidemiología , Epilepsia/psicología , Trastornos del Sueño-Vigilia/epidemiología , Trastornos del Sueño-Vigilia/psicología , Encuestas y Cuestionarios , Adolescente , Cuidadores/psicología , Niño , Trastornos de la Conducta Infantil/diagnóstico , Trastornos de la Conducta Infantil/epidemiología , Trastornos de la Conducta Infantil/psicología , Estudios de Cohortes , Epilepsia/diagnóstico , Femenino , Humanos , Italia/epidemiología , Masculino , Padres/psicología , Prevalencia , Sueño/fisiología , Trastornos del Sueño-Vigilia/diagnóstico
5.
BMC Pediatr ; 18(1): 26, 2018 02 05.
Artículo en Inglés | MEDLINE | ID: mdl-29402250

RESUMEN

BACKGROUND: Sleep plays a prominent role in the growth and development of children. Children with cerebral palsy (CP) are more prone to sleep disorders (SDs) than their peers. Children with CP, have a higher prevalence of disorders involving; initiation and maintenance of sleep, sleep-wake transition, excessive sleepiness and arousal. These sleep disorders impact on the quality of life of these children. Despite, having a high prevalence of CP in Uganda, there is a paucity of data that focuses on sleep disorders in CP, including a lack of prevalence estimates of sleep breathing disorder (SBD) in CP. Understanding the prevalence and disorders of sleep within this population would help advise on the development of tailored interventions to address the needs of these children and improve their quality of life. This study determined the prevalence and associated factors of sleep disorders among children aged 2 - 12 years with cerebral palsy in Uganda. METHODS: This was a cross sectional study. All participants had a physical examination and screening with the Sleep Disturbances Scale for Children (SDSC) questionnaire to determine the prevalence of sleeps disorders. A total score (TS) ≥ 51 on the Sleep Disturbances Scale for Children was regarded as abnormal. RESULTS: A total of 135 participants were recruited. The prevalence of sleep disorders was 43/135 (32%) with 95% CI: (24.0-39.7). The most common type of sleep disorders was a disorder of initiating and maintaining sleep 37(27%). The factors associated with sleep disorders among children with cerebral palsy were bilateral spasticity (p = 0.004); OR:(95%CI), 11.193: (2.1 - 59.0), lowest levels of gross motor function V (p = < 0.001); OR:(95%CI), 13.182: (3.7 - 47.0) or IV (p = 0.007); OR:(95%CI), 12.921: (2.0 - 82.3), lowest level of manual ability V (p = 0.004); OR:(95%CI), 11.162: (2.2 - 56.4) and presence of epilepsy (p = 0.011); OR:(95%CI), 3.865: (1.4 - 10.9). CONCLUSIONS: The prevalence of sleep disorders among children with cerebral palsy in Uganda is high. Severe disability and presence of epilepsy were associated with sleep disorders among children with cerebral palsy.


Asunto(s)
Parálisis Cerebral/complicaciones , Trastornos del Sueño-Vigilia/complicaciones , Trastornos del Sueño-Vigilia/epidemiología , Parálisis Cerebral/clasificación , Niño , Preescolar , Estudios Transversales , Epilepsia/complicaciones , Femenino , Humanos , Masculino , Prevalencia , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Uganda/epidemiología
6.
Am J Med Genet C Semin Med Genet ; 172(2): 214-21, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-27133889

RESUMEN

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. Sleep disturbances have been frequently reported in CdLS, but these have not been completely characterized, and prevalence data are conflicting. The aim of this paper is to characterize and determine the prevalence of sleep disorders in CdLS patients by means of a validated questionnaire. From November 2012 to November 2013, we asked 46 consecutive parents/caregivers of CdLS patients aged more than 3 years old to fill out the sleep disturbances scale for children (SDSC). The subjects were also characterized by the presence of epilepsy, intellectual disability (ID), behavioral problems, CdLS severity score, gastroesophageal reflux disease (GERD), and genetic test results. An abnormal total sleep score was found in 7 patients (15.2%), 26 (56.5%) showed a borderline total score, and 18 (39.1%) had an abnormal score for at least one SDSC factor. In our study sleep disorders were found to be positively associated to presence of epilepsy, GERD, ID, and behavioral disturbances. No correlation was evident with specific mutations of the different genes, BMI, and severity score. Our results confirm that sleep disorders represent a common problem in CdLS, with higher incidence than in the normal population. In these patients sleep disorders seem to be more prevalent in comorbid settings, representing a clinical indicator for different medical and neuropsychiatric disorders. Better knowledge and characterization of typology of sleep disorders in CdLS patients could permit a more specific therapeutic approach. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Síndrome de Cornelia de Lange/complicaciones , Trastornos del Sueño-Vigilia/etiología , Cuidadores , Niño , Síndrome de Cornelia de Lange/patología , Epilepsia/etiología , Humanos , Discapacidad Intelectual/etiología , Trastornos Mentales/etiología , Padres , Encuestas y Cuestionarios
7.
Int J Surg Case Rep ; 122: 110021, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39106742

RESUMEN

INTRODUCTION AND IMPORTANCE: SMARCB1 (INI-1) is a vital tumour suppressor gene on chromosome 22q11.2, preventing tumour development in the SWI/SNF complex. Mutations cause SMARCB1-deficient tumours with distinct features. Loss of INI-1 expression is seen in malignancies, including sinonasal carcinoma and atypical teratoid/rhabdoid tumours. Recently recognized as a separate entity, SMARCB1-deficient sinonasal carcinomas (SDSC) are rare, clinically aggressive, and mimic other malignancies, emphasizing their significant diagnosis due to poorer prognosis, particularly in the elderly. CASE PRESENTATION: A 66-year-old male presented with a 4-month-old right cheek swelling, diagnosed initially as a sinonasal neoplastic mass. The biopsy revealed sinonasal mucosal fragments infiltrated by a tumour with plasmacytoid morphology. Immunohistochemistry (IHC) of the tumour cells was positive for p63 and pan-cytokeratin and showed INI-1 loss. Subsequent subtotal maxillectomy was performed, and the patient received adjuvant chemotherapy and radiotherapy. At a thirteen-month follow-up, the patient achieved his daily activities with no signs of recurrence. CLINICAL DISCUSSION: The loss of protein expression in sinonasal cancer is predominantly attributed to the homozygous deletion of SMARCB1. SDSC, a profoundly invasive malignant carcinoma, tends to infiltrate sinuses and extend into the intracranial regions. The IHC findings of our case were in coherence with previous studies in SMARCB1. The prognosis is particularly unfavourable in males and advanced tumours. CONCLUSION: The tumour's microscopic and immunohistochemical characteristics indicated the SDSC. Due to its aggressive nature and high mortality rates, dealing with a paranasal mass, one should be suspicious of this tumour.

8.
J Pers Med ; 13(7)2023 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-37511704

RESUMEN

Sleep disorders are particularly important in the development of children, affecting the emotional, behavioural, and cognitive spheres. The incidence of these disorders has been assessed in different types of populations, including patients with a history of premature birth, who, from the literature data, would seem to have an increased incidence of sleep disorders at school age. The aims of the present study are: (i.) to assess the presence of sleep disorders in a population of very preterm infants at 6-36 months who are at low risk of neurological impairments using the Italian version of the Sleep Disturbance Scale for Children (SDSC) adapted for this age group, and (ii.) to identify possible differences from a control group of term-born infants. A total of 217 low-risk preterm and 129 typically developing infants and toddlers were included in the study. We found no differences in the SDSC total and the factor scores between these two populations of infants. Low-risk preterm infants and toddlers showed similar incidences of sleep disorders to their term-born peers. Further clinical assessments will be needed to confirm these data at school age.

9.
Autism Res ; 16(5): 953-966, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36942618

RESUMEN

FOXG1 syndrome is a rare neurodevelopmental disorder associated with severe cognitive dysfunction, autistic behavior, and early-onset hyperkinetic movement disorders. Patients have also been reported to experience sleep disturbances. However, these findings are mainly based on subjective caregivers' reports, and limited by small case numbers. Moreover, no studies using objective evaluation tools, such as actigraphy, have been reported. We analyzed the clinical and sleep manifestations of children with FOXG1 syndrome registered in the FOXG1 Research Foundation Patient Registry database. A total of 258 individuals with FOXG1 syndrome were included in this research. 132 (51.16%) had sleep disturbances. The more impaired of language acquisitions (absence of speech, OR: 3.99, 95%CI = 1.69-9.42, p = 0.002), hyperkinetic movement disorders (OR: 2.64, 95%CI = 1.34-5.20 p = 0.005) and feeding difficulties (OR: 2.81, 95% CI = 1.52-5.19, p = 0.001) were significantly associated with an increase in odds of sleep disturbance after adjusting for age, sex, and antiepileptic drugs. We also performed sleep studies on six individuals with FOXG1 syndrome using The Children's Sleep Habits Questionnaire (CSHQ), the Sleep Disturbance Scale for Children (SDSC), and 7-day data from Actiwatch. The Pittsburgh Sleep Quality Index (PSQI) and 7-day data from Actiwatch were also used to evaluate the sleep condition of their parents. The CSHQ scores revealed bedtime resistance, sleep onset delay, sleep duration, sleep anxiety, night-waking, and parasomnia. Sleep-wake transition disorders and disorders of initiating and maintaining sleep were also suggested by the SDSC scores. The children's actigraphy revealed short sleep durations, impaired sleep efficiency, longer wake after sleep onset, and frequent night-waking. All caregivers reported significantly higher PSQI scores, mildly declined sleep efficiency, and shorter total sleep duration. Sleep disturbances, especially in initiating and maintaining sleep, are common in individuals with FOXG1 syndrome and their caregivers. Sleep disorders in patients with FOXG1 syndrome and their caregivers should be investigated.


Asunto(s)
Trastorno del Espectro Autista , Síndrome de Rett , Trastornos del Inicio y del Mantenimiento del Sueño , Trastornos del Sueño-Vigilia , Humanos , Niño , Hipercinesia , Trastorno del Espectro Autista/complicaciones , Sueño , Síndrome de Rett/complicaciones , Trastornos del Inicio y del Mantenimiento del Sueño/complicaciones , Trastornos del Sueño-Vigilia/complicaciones , Trastornos del Sueño-Vigilia/epidemiología , Encuestas y Cuestionarios , Proteínas del Tejido Nervioso , Factores de Transcripción Forkhead/genética
10.
Children (Basel) ; 10(7)2023 Jul 10.
Artículo en Inglés | MEDLINE | ID: mdl-37508686

RESUMEN

INTRODUCTION: Recent studies show that neuropsychiatric disorders are the most frequent sequelae of COVID-19 in children. PURPOSE: Our work aimed to evaluate the impact of SARS-CoV-2 infection on behavior and sleep in children and adolescents. MATERIALS AND METHODS: We enrolled 107 patients aged 1.5-18 years who contracted COVID-19 between one year and one month prior to data collection, referred to the University of Campania Luigi Vanvitelli in Italy. We asked their parents to complete two standardized questionnaires for the assessment of behavior (Child Behavior CheckList (CBCL)) and sleep (Sleep Disturbance Scale for Children (SLDS)). We analysed and compared the results with a control group (pre-COVID-19 pandemic). RESULTS: In the COVID-19 group, the major results were found for sleep breathing disorders, sleep-wake transition disorders and disorders of initiating and maintaining sleep for the SDSC questionnaire, and internalizing scale, total scale and anxiety/depression for the CBCL questionnaire. The comparison of the CBCL results of the cases with the controls revealed statistically significant differences for the following items: internalizing scale, externalizing scale, somatic complaints, total score, thought problems [(p < 0.01)], anxious/depressed problems and withdrawn [(p < 0.001)]. CONCLUSIONS: COVID-19 has impacted children's and adolescents' mental health. Adolescents were the most affected patient group for internalizing problems, including anxiety and depression.

11.
Sleep Med ; 103: 173-179, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36812861

RESUMEN

STUDY OBJECTIVES: CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy, developing in the first months of life, caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. Children with CDD often have sleep (90%) and breathing disorders in wake (50%). Sleep disorders may have a significant impact emotional wellbeing and quality of life of caregivers of children with CDD and are challenging to treat. The outcomes of these features are unknown in children with CDD. METHODS: We retrospectively evaluated sleep and respiratory function changes over 5-10 years in a small cohort of Dutch children with CDD, using video-EEG and/or polysomnography (3 × 24 h) and a parental questionnaire, the Sleep Disturbance Scale for Children (SDSC). The present study is a follow-up sleep and PSG study to evaluate if sleep and breathing disturbances persist in children with CDD previously studied. RESULTS: Sleep disturbances persisted during the study period (5.5-10 years). All five individuals had long sleep latency (SL, range 32-174.5 min) and frequent arousals and awakenings (14-50/night), unrelated to apneas/seizures, corresponding to the SDSC findings. Low sleep efficiency (SE, 41-80%) was present and did not improve. In our participants, total sleep time (TST, 3h52min-7h52min) was short and remained so. Time in bed (TIB) was typical for children aged 2-8 years, but did not adjust with ageing. Low duration (4.8-17.4%) or even absent REM sleep persisted over time. No sleep apneas were noted. Central apneas due to episodic hyperventilation were reported during wakefulness in two of the five. CONCLUSION: Sleep disturbances were present and persisted in all. The decreased REM sleep and sporadic breathing disturbances in wake may indicate failure of brainstem nuclei. Sleep disturbances can severely affect the emotional wellbeing and quality of life of the caregivers and the individuals with CDD and are challenging to treat. Hopefully our polysomnographic sleep data contribute to find the optimal treatment of the sleep problems in CDD patients.


Asunto(s)
Síndromes de la Apnea del Sueño , Trastornos del Sueño-Vigilia , Humanos , Niño , Estudios Retrospectivos , Calidad de Vida , Sueño , Síndromes de la Apnea del Sueño/complicaciones , Trastornos del Sueño-Vigilia/etiología , Proteínas Serina-Treonina Quinasas/genética
12.
Neuropsychiatr Dis Treat ; 18: 1165-1173, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35719863

RESUMEN

Purpose: Autism spectrum disorder is a highly complex neurological and psychosocial disorder characterized by social dysfunction, severe reduction in speech, and a single stereotyped behavior. The treatment methods are currently limited, and children with autism generally suffer from constipation and sleep disorders. It is urgent to find an alternative psychotropic drug, given the drug dependence and adverse reactions that may occur with long-term medication. Patients and Methods: This retrospective study included 49 children with autism at the first affiliated Hospital of Guangdong Pharmaceutical University, who received washed fecal microbiota transplantation (WMT) treatment between June 2019 and July 2021 and compared the sleep disorder scores between the constipation group, control group and blank group. Results: Second WMT could significantly improve the sleep disorder scores in the constipation group (p=0.026) and the decrease in sleep disturbance scale for children (SDSC) score was synchronized with the increase in Bristol stool form scale (BSFS) score. However, there was no significant difference between patients without constipation (p=0.54), and the behavior of autism improved in both groups. Conclusion: WMT could relieve constipation and improve sleep disorders in children with autism, with no deterioration in stool morphology and sleep disorders in other children. Moreover, there were no obvious serious adverse clinical events after WMT.

13.
Sleep Med X ; 4: 100053, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36072436

RESUMEN

Introduction: the great increase in childhood obesity rates is well documented in the scientific literature. However, the influence of diet on sleep quality in children and adolescents still needs further research in order to be better understood. The objective of this study was to evaluate the association between diet and sleep characteristics and in children and adolescents with obesity. Methods: observational analytical cross-sectional study with prospective data collection. Forty-three children and adolescents aged between 6 and 13 years diagnosed with obesity and treated at a public tertiary care institution participated in the study. The 6-day Food Intake Registry was used to evaluate the intake of energy and macronutrients. To investigate the risk of sleep disturbances and to know the routine and characteristics of sleeping habits, the Sleep Disturbance Scale for Children (SDSC) questionnaire was used. Results: and discussion: Food intake showed association with Sleep Breathing Disorders (SBD) and Sleep Wake Transition Disorders (SWTD). The sum of all SDSC factors demonstrated the presence of pathological sleep in most patients (n = 25).

14.
Ear Nose Throat J ; : 1455613221082622, 2022 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-35603532

RESUMEN

Background: SWItch/Sucrose Non-Fermentable related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1)-deficient sinonasal carcinoma (SDSC) is a malignant tumor classified as sinonasal undifferentiated carcinoma (SNUC). Purpose: Owing to the high aggressiveness and poor prognosis reported in recent literature, patients diagnosed with SNUC should consider further immunohistochemical examination to screen for SDSC. Timely diagnosis is critical and will contribute to follow-up targeted therapy and improved patient prognosis. Research Design: Case report. Study Sample: A case of SDSC with a history of chronic sinusitis with nasal polyps (CRSwNP). Data Collection: We collected all the clinical data of this patient. Results: The patient underwent planned functional endoscopic sinus surgery (FESS) and received chemotherapy combined with immunotherapy postoperatively. There was no evidence of recurrence or metastasis at the 3-month follow-up. Conclusions: The patient in this case presented with right intermittent epistaxis, and surgical histopathological examination confirmed a diagnosis of right SDSC and left CRSwNP. No related research has been reported.

15.
World Neurosurg ; 161: e229-e243, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35123020

RESUMEN

OBJECTIVE: This study aims to improve the understanding of SMARCB1 (integrase interactor 1)-deficient sinonasal carcinoma (SDSC) by analyzing its clinical features, treatment strategies, and prognosis. METHODS: Sixty-nine patients were included in this research: 15 new cases from Beijing Tongren Hospital and 54 previously reported cases. We analyzed and summarized patients' epidemiologic data, clinical features, and treatment regimens. Main outcomes were overall survival (OS) and recurrence-free survival (RFS). Univariate and multivariate analyses were performed using a Cox regression model for OS and RFS. RESULTS: SDSC was more common in men than women with a median age of 52 years (range, 21-89 years). Epistaxis (40.0%) and headache (36.7%) were the major symptoms. The most common affected paranasal sinus was the ethmoid sinus (58.0%). For TNM stage, 66.7% cases were first diagnosed as T4N0M0. The tumor cells were complete loss of integrase interactor 1 in all cases by immunohistochemical analysis. However, 72.5% patients were first misdiagnosed initially. The 1-year, 3-year, and 5-year OS and RFS were 85.3%, 51.8%, 47.8%; and 56.8%, 38.2%, and 35.3%, respectively. The RFS of comprehensive treatment based on surgery was better than that of systemic therapy without surgery (P < 0.05). In addition, the OS and RFS of surgery with chemoradiotherapy was better than that of surgery with radiotherapy (P < 0.05). Univariate and multivariate analysis identified treatment modality as an independent prognostic factor for patients with SDSC. CONCLUSIONS: Immunohistochemical analysis of SDSC during initial biopsy can prevent delays in diagnosis and treatment. Radical surgery resection combined with chemoradiotherapy may be the preferred treatment modality.


Asunto(s)
Carcinoma , Neoplasias de los Senos Paranasales , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma/diagnóstico , Carcinoma/genética , Carcinoma/terapia , Senos Etmoidales , Femenino , Humanos , Integrasas , Masculino , Persona de Mediana Edad , Neoplasias de los Senos Paranasales/diagnóstico , Neoplasias de los Senos Paranasales/genética , Neoplasias de los Senos Paranasales/terapia , Investigación , Proteína SMARCB1/genética , Adulto Joven
16.
Sleep Biol Rhythms ; 20(4): 509-519, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38468623

RESUMEN

To assess the effects of the number and duration of general anesthesia exposure on the sleep quality of 6-15-year-old school children who underwent plastic surgery. The study was conducted on 688 children who underwent plastic surgery between the ages of 6 and 15 years using the Sleep Disorder Scale for Children (SDSC). The children were divided into two groups according to their exposure to general anesthesia: No General Anesthesia (NGA) and General Anesthesia (GA) groups. The GA group was further divided into three subgroups according to the number of exposures: Single-exposure, Double-exposure, and Multiple-exposure groups. The GA group was also subdivided into two groups according to the cumulative total time of anesthesia exposure: < 3 h and ≥ 3 h groups. Multivariate logistic regression analysis was used to confirm the potential factors that affect children with sleep disturbance (SDSC scores > 39) after general anesthesia exposure. Linear regression was used to analyze the correlation of the factors with the SDSC scores. The SDSC scores were higher in the GA group [35.4 ± 4.3 vs. 34.0 ± 3.6, P < 0.0001] as compared to the NGA group. The number of children with SDSC scores > 39 was also higher in the GA group [80 (17.5%) vs. 17 (7.4%), P < 0.0001]. More anesthesia exposure was correlated with higher total SDSC scores [34.5 ± 4.3 for single exposure vs 35.1 ± 3.9 for double exposure vs 37.5 ± 4.5 for multiple exposures, P < 0.0001] and a higher proportion of SDSC scores > 39 [24 (12.0%) for single exposure vs 24 (15.5%) for double exposure vs 32 (31.1%) for multiple exposures, P < 0.0001]. Longer anesthesia exposure was also correlated with higher total SDSC scores [34.4 ± 4.5 for < 3 h vs. 35.8 ± 4.2 for ≥ 3 h, P = 0.002]. The number of exposures to general anesthesia was a potential factor in sleep disturbance among children, determined based on logistic regression. Children who underwent plastic surgery between the ages of 6 and 15 years with general anesthesia exposure might have worse sleep quality and a higher incidence of sleep disorders. More frequent anesthesia exposure leads to worsened sleep quality and a higher incidence of sleep disorders. This study also confirmed that a longer duration of cumulative anesthesia exposure also leads to worse sleep quality.

17.
Sleep Med ; 81: 62-68, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33639483

RESUMEN

OBJECTIVES: The aim of the present study is to assess the psychometric properties of the Sleep Disturbance Scale for Children (SDSC) in an Italian population of infants and toddlers. METHODS: The SDSC was distributed to the primary caregivers of infants aged 6-36 months recruited via nurseries in the urban area of Rome. Reliability analysis for evaluating internal consistency and item-total correlation coefficients, and factor analysis were performed. RESULTS: During a 12-months study period, a total of 193 healthy infants (aged 6-36 months) were evaluated using a 22-item version of the SDSC for Italian infants and toddlers. Three of the 22 original items displayed a low item-total correlation (<30) and a low frequency and were eventually removed, resulting in a 19 items questionnaire. Six factors were derived from the factor analysis using the principal component method of extraction and rotated with the varimax method: Difficulty in initiating sleep, Difficulty in maintaining sleep, Sleep breathing disorders, Parasomnias, Disorders of excessive somnolence and Sleep hyperhidrosis. The SDSC adapted for infants and toddlers showed a good level of internal consistency (Cronbach's alpha: 0.83). CONCLUSIONS: The statistical analysis, the internal consistency and the factor analysis encourage the use of SDSC as an evaluation tool even at this age. The six factors extracted represent the most common areas of sleep disorders at this age and could therefore help clinicians to detect the areas that need a deeper investigation.


Asunto(s)
Trastornos del Sueño-Vigilia , Preescolar , Humanos , Lactante , Italia , Psicometría , Reproducibilidad de los Resultados , Sueño , Trastornos del Sueño-Vigilia/diagnóstico , Encuestas y Cuestionarios
18.
Front Neurol ; 12: 796828, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34975740

RESUMEN

Objectives: Pallister-Killian syndrome (PKS) is a rare genetic disorder with multi-organ involvement caused by mosaic tetrasomy of chromosome 12p. Although many caregivers report the presence of impaired sleep in their children, there are no clear data in the literature on this issue and no systematic study has ever been performed. With this study, we aimed to characterize the features of sleep in Pallister-Killian syndrome and identify the possible influence of clinical and demographic features. Moreover, our aim was to verify the effectiveness of conventional screening questionnaires in this particular group of patients. Methods: We prospectively enrolled 14 patients aged 1-17 years in collaboration with PKS Kids Italia ONLUS. The Sleep Disturbance Scale for Children (SDSC) questionnaire was administered to caregivers. Then, video polysomnography (VPSG) of at least 24 h was performed and results were compared with a same-aged control group. Results: A total of 92% of patients had abnormal SDSC scores, extremely high in the "disorder of initiating and maintaining sleep" (DIMS) and "sleep breathing disorders" (SBD) subscales. VPSG showed a significantly impaired macrostructure in PKS patients, with a higher Arousal Index (p < 0.00001) and percentage of time spent in N3 (p < 0.00001), and reduced Sleep Efficiency (p = 0.0006). After dividing both PKS and controls into two groups based on median age, some peculiarities emerged: the younger group had higher Awakenings Index (p = 0.0207) and percentage of time spent in N1 (p = 0.015) while the older group showed higher time in bed (TIB) (p = 0.0485), compared with controls. Due to poor compliance, the Apnea-Hypopnea Index (AHI) was evaluated only for 10 PKS children, being significantly increased (p = 0.0427) compared with controls. SBD subscale scores in SDSC were significantly related to AHI values in VPSG (p = 0.0099). Conclusions: This study constitutes the first attempt to describe the sleep pattern in PKS. Despite small numbers due to the rarity of the syndrome, our VPSG results confirm the high prevalence of sleep disorders (SDs) in these patients. It is therefore essential to investigate and treat them. The SDSC scale is a good screening tool for early detection also in these patients, with particular sensitivity in detecting breathing disorders.

19.
Sleep Med X ; 3: 100033, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33870180

RESUMEN

OBJECTIVE: The Child Behavior Checklist (CBCL) is a commonly used measure of child and adolescent functioning, which includes seven items that can be aggregated to provide a purportedly valid measure of sleep functioning. The objective of this study was to examine the convergent validity of the CBCL in a paediatric ADHD population and to evaluate the sensitivity of the instrument when benchmarked against the Sleep Disorders Scale for Children (SDSC). METHODS: The parents of 215 individuals (ages 6-17 years, 86% male) completed the CBCL and SDSC as part of a battery of measured administered as part of a specialised ADHD service located in Perth, Western Australia. All participants had a diagnosis of ADHD confirmed by a paediatrician or psychiatrist prior to attending the service. RESULTS: The CBCL Sleep Composite Scale was strongly correlated with the SDSC, but reported below adequate internal reliability. Receiver Operating Characteristic (ROC) suggests that a cut-off score of 4 may have good diagnostic accuracy compared to SDSC. CONCLUSIONS: The CBCL Sleep Composite Scale may be reasonable to use if no purpose-developed sleep screening tool is available. The CBCL sleep items demonstrated good convergent validity, however, did not otherwise demonstrate acceptable psychometric properties that would endorse its use in an ADHD sample. The development of a specific measure of sleep in children with ADHD children is recommended.

20.
Ital J Pediatr ; 47(1): 130, 2021 Jun 04.
Artículo en Inglés | MEDLINE | ID: mdl-34088351

RESUMEN

BACKGROUND: Measures to contain the Covid-19 pandemic led to significant lifestyle changes for children and adolescents mainly related to the closure of schools and recreational activities, reduced social interaction, and increased family concerns. METHODS: A cross-sectional online survey of 78 questions investigating social determinants of health, mood changes, symptoms of anxiety, increase in sleep disorders and unusual repetitive movements was offered to parents living in Italy with children ≤18 years; including families of children with disabilities, autism spectrum disorders, chronic diseases, and specific learning disabilities. The survey was conducted on the Qualtrics platform 6 months after the beginning of the pandemic and distributed in hospitals and paediatricians' waiting rooms as well as through social networks. The primary outcomes were the increase in sleep disorders among children and adolescents. Possible risk factors were investigated through multivariable regression. RESULTS: Six thousand two hundred ten volunteer parents responded to the questions concerning mood changes, sleep disorders and unusual repetitive movements, and were included in the present study. The majority were female (91.8%) and Italian (97.0%). 72.7% answered that their children had become more nervous, worried, or sad (80.2% in children with learning disabilities); 77.6% reported feelings of loneliness and 69.3% more difficulties in children falling asleep, 30.2% in staying asleep, and 18.7% an increase in nightmares and/or sleep terrors. Statistical analysis identified socioeconomic status, parent's job loss, food insecurity, family attitude toward the pandemic, and children's mood swing, feelings of loneliness, or missing outdoor activities, as major risk factors for sleep disorders. CONCLUSION: The first Covid-19 lockdown impacted children's and adolescents' health through an increase in sleep disorders. In the following phases of the pandemic, this evidence may be useful to investigate and treat these disorders as well as make decisions about containment health policies concerning this age group.


Asunto(s)
COVID-19/epidemiología , Trastornos del Sueño-Vigilia/epidemiología , Trastornos del Sueño-Vigilia/psicología , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Italia/epidemiología , Masculino , Pandemias , Factores de Riesgo , SARS-CoV-2 , Determinantes Sociales de la Salud , Encuestas y Cuestionarios
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