Oropharyngeal teratoma in association with a diaphragmatic hernia

Pediatric germ cell tumors (GCT) rarely occur in the head and neck region and they are rarely associated with congenital anomalies. A 17 month old girl presented with a history of cough and change in voice for one month. Her chest x-ray and cross sectional imaging was suggestive of a mediastinal mass, right diaphragmatic hernia, and rib abnormality. Serologic and biomarkers were all negative for tumors. Surgical resection occurred with clear margins revealing a mass arising from the left hypopharnx via a pedunculated stalk. Histopathology was consistent with a mature teratoma including significant amounts of parathyroid tissue. She remains tumor free at 18 months follow up. To the best of our knowledge our patient is the third case in which a diaphragmatic hernia was reported in association with hypopharyngeal teratoma and our patient is the first to survive; this provides an opportunity to counsel families when this association is encountered

Allergic bronchopulmonary aspergillosis in patients with cystic fibrosis

Allergic bronchopulmonary aspergillosis (ABPA) is a pulmonary disorder that often occurs in patients with asthma or cystic fibrosis (CF) and is characterized by a hypersensitivity response to the allergens of the fungus Aspergillus fumigatus. In patients with CF, growth of A. fumigatus hyphae within the bronchial lumen triggers an immunoglobulin E (IgE)-mediated hypersensitivity response that results in airway inflammation, bronchospasm, and bronchiectasis. In most published studies, the prevalence of ABPA is about 8.9% in patients with CF. Since the clinical features of this condition overlap significantly with that of CF, ABPA is challenging to diagnose and remains underdiagnosed in many patients. Diagnosis of ABPA in CF patients should be sought in those with evidence of clinical and radiologic deterioration that is not attributable to another etiology, a markedly elevated total serum IgE level (while off steroid therapy) and evidence of A. fumigatus sensitization. Management of ABPA involves the use of systemic steroids to reduce inflammation and modulate the immune response. In patients who do not respond to steroids or cannot tolerate them, antifungal agents should be used to reduce the burden of A. fumigatus allergens. Recent studies suggest that omalizumab may be an effective option to reduce the frequency of ABPA exacerbations in patients with CF. Further randomized controlled trials are needed to better establish the efficacy of omalizumab in managing patients with CF and ABPA

Study on self-assessment regarding knowledge of temporomandibular disorders in children/adolescents by Swedish and Saudi Arabian dentists

OBJECTIVE: To estimate the degree of self-assessed knowledge among dentists in Sweden and Saudi Arabia regarding temporomandibular disorders (TMD) in children and adolescents using a summative form of assessment and further to investigate the possible factors that may influence the self-assessed knowledge. MATERIALS AND METHODS: A questionnaire survey covering four domains (Etiology; Diagnosis and classification; Chronic pain and pain behavior; Treatment and prognosis) regarding TMD knowledge was used. Out of 250 questionnaires (125 in each country) a total of 65 (52%) were returned in Sweden and 104 (83%) in Saudi Arabia. RESULTS: Self-assessed individual knowledge was significantly associated to the level of actual knowledge among the Swedish groups in the domains Etiology; Diagnosis and classification and Treatment and prognosis (p < 0.05). However, in the Saudi Arabian groups a corresponding significant association was only found in the domain Diagnosis and classification (p < 0.05). CONCLUSIONS: This study showed that there is a difference in the accuracy of self-assessment of own knowledge between the dentists in Sweden and Saudi Arabia. The Swedish dentists have a better ability to assess their level of knowledge compared to Saudi Arabian dentists regarding TMD in children and adolescents. This difference could be related to several factors such as motivation, positive feedback, reflection, psychomotor, and interpersonal skills, which all are more dominant in the Swedish educational tradition

Professional knowledge among Swedish and Saudi healthcare practitioners regarding oro-facial pain in children and adolescents

Oro-facial pain (OFP) and temporomandibular disorders (TMD) in children and adolescents are a growing problem. To meet patients' healthcare needs, professionals must perform their work intuitively and with quality. Therefore, a high degree of professional knowledge is necessary. To investigate the professional knowledge regarding OFP/TMD in children and adolescents among Swedish and Saudi Arabian dental and medical specialists compared with Swedish OFP specialists. One questionnaire including the four domains Chronic pain and behaviour; Aetiology; Diagnosis and classification; Treatment and prognosis was distributed to 383 potential participants, that is physicians and dentists in Sweden and Saudi Arabia. The Swedish OFP/TMD specialists were used as a reference group. The response rates from Sweden and Saudi Arabia were 49% and 86%, respectively. The degree of agreement was highest in the domain Chronic pain and behaviour, especially for the Swedish groups. Regarding the other three domains, the agreement was modest to poor. In general, Swedish groups showed a higher agreement with Swedish OFP/TMD specialists than Saudi Arabian groups. This study shows that professional knowledge regarding OFP/TMD in children and adolescents is limited among Swedish and Saudi Arabian dental and medical professionals compared to Swedish OFP/TMD specialists. In Swedish groups, the professional knowledge is more accurate than in the corresponding Saudi Arabian. With these results in mind, and the frequent prevalence of OFP/TMD in children and adolescents, one can draw the conclusion that there is a need for modern medical education regarding OFP/TMD among both physicians and dentists, especially in Saudi Arabia

Using the child behavior checklist to determine associations between psychosocial aspects and TMD-related pain in children and adolescents

Abstract Background Since children and adolescents are frequently experiencing emotional and behavioral consequences due to pain, their parents should be aware of this emotional and behavioral status. Therefore, the aim of this study was to analyze and describe the parents’ reports of the emotional and behavioral status of children and adolescents with different types of temporomandibular disorders using the Child Behavior Checklist. Methods This Cross-sectional study comprises of 386 randomly selected children and adolescents that ages between 10 and 18 years in Jeddah. One day prior the clinical examination according to Research Diagnostic Criteria for temporomandibular disorders (TMD) Axis I and II, Arabic version of the Child Behavior Checklist scale was distributed to the parents of participant. According to the diagnosis, the participants were divided into three groups; non-TMD group, TMD-pain group, and TMD-painfree group. Results In regard to internalizing problems, the parents to the children and adolescents in the TMD-pain group rated a higher frequency of anxiety, depression and somatic complaints in their children than the parents of children in the non-TMD group (p < 0.05). Only one significant association regarding the externalizing problems was found for the aggressive behavior in the TMD-pain group. Conclusion The parents rated that their children with TMD-pain suffer from emotional, somatic and aggressive behavior to a higher degree than healthy control subjects. Also, the parents believed that TMD-pain influenced their children’s physical activities but not social activities

Prevalence of Sleep-Disordered Breathing in Prader–Willi Syndrome

Introduction. Sleep-disordered breathing (SDB) is common in patients with Prader–Willi Syndrome (PWS). However, the prevalence of SDB varies widely between studies. Early identification of SDB and factors contributing to its incidence is essential, particularly when considering growth hormone (GH) therapy. Objectives. The aims of the study were to describe the prevalence and phenotypes of sleep-disordered breathing (SDB) in patients with Prader–Willi syndrome (PWS) and to determine the effects of age, gender, symptoms, GH therapy and body mass index on SDB severity. Methods. This study was a retrospective chart review of all patients with genetically confirmed Prader–Willi syndrome who underwent diagnostic overnight polysomnography (PSG) in the sleep laboratory at Sidra Medicine. Clinical and PSG data of enrolled patients were collected. Results. We identified 20 patients (nine males, eleven females) with PWS who had overnight sleep polysomnography (PSG) at a median age (IQR) of 5.83 (2.7–12) years. The median apnea-hypopnea index (AHI) was 8.55 (IQR 5.8–16.9) events/hour. The median REM-AHI was 27.8 (IQR 15–50.6) events/hour. The median obstructive apnea-hypopnea index (OAHI) was 7.29 (IQR 1.8–13.5) events/hour. The median central apnea-hypopnea index (CAHI) was 1.77 (IQR 0.6–4.1) events/hour. Nineteen patients (95%) demonstrated SDB by polysomnography (PSG) based on AHI ≥1.5 events/hour. Nine patients (45%) were diagnosed with obstructive sleep apnea (OSA). Three patients (15%) were diagnosed with central sleep apnea (CSA). Seven patients (35%) were diagnosed with mixed sleep apnea. No correlations were observed between AHI and age, gender, BMI, symptoms, or GH therapy. However, REM-AHI was significantly correlated with BMI (P=0.031). Conclusion. This study shows a high prevalence of SDB among our patients with PWS. Obstructive sleep apnea was the predominant phenotype. BMI was the only predictor for high REM-AHI. Further studies of large cohorts are warranted to define SDB in PWS and design the appropriate treatment

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes

Purpose Human serine/threonine kinase 4 (STK4) deficiency is a rare, autosomal recessive genetic disorder leading to combined immunodeficiency; however, the extent to which immune signaling and host defense are impaired is unclear. We assessed the functional consequences of a novel, homozygous nonsense STK4 mutation (NM_006282.2:c.871C > T, p.Arg291*) identified in a pediatric patient by comparing his innate and adaptive cell-mediated and humoral immune responses with those of three heterozygous relatives and unrelated controls. Methods The genetic etiology was verified by whole genome and Sanger sequencing. STK4 gene and protein expression was measured by quantitative RT-PCR and immunoblotting, respectively. Cellular abnormalities were assessed by high-throughput RT-RCR, RNA-Seq, ELISA, and flow cytometry. Antibody responses were assessed by ELISA and phage immunoprecipitation-sequencing. Results The patient exhibited partial loss of STK4 expression and complete loss of STK4 function combined with recurrent viral and bacterial infections, notably persistent Epstein–Barr virus viremia and pulmonary tuberculosis. Cellular and molecular analyses revealed abnormal fractions of T cell subsets, plasmacytoid dendritic cells, and NK cells. The transcriptional responses of the patient’s whole blood and PBMC samples indicated dysregulated interferon signaling, impaired T cell immunity, and increased T cell apoptosis as well as impaired regulation of cytokine-induced adhesion and leukocyte chemotaxis genes. Nonetheless, the patient had detectable vaccine-specific antibodies and IgG responses to various pathogens, consistent with a normal CD19 + B cell fraction, albeit with a distinctive antibody repertoire, largely driven by herpes virus antigens. Conclusion Patients with STK4 deficiency can exhibit broad impairment of immune function extending beyond lymphoid cells.Other Information Published in: Journal of Clinical Immunology License: https://creativecommons.org/licenses/by/4.0See article on publisher's website: http://dx.doi.org/10.1007/s10875-021-01115-2</p