ABSTRACT
Bronchogenic cysts are embryologic malformations of the foregut and are rarely found head and neck region. Here we present a case of an upper scapular/lower posterior neck cystic mass which was initially suspicious for lymphatic malformation but confirmed by pathology to be an ectopic bronchogenic cyst.
ABSTRACT
A 5-year-old boy had subacute painless visual loss in his left eye with disk edema, macular edema, and choroidal thickening. He was subsequently diagnosed with inflammatory papillitis and choroiditis from Crohn's disease. The disk and macular edema responded minimally to antivascular endothelial growth factor injections but significantly to intravitreal corticosteroids.
Subject(s)
Choroiditis , Crohn Disease , Papilledema , Angiogenesis Inhibitors/therapeutic use , Child , Child, Preschool , Choroiditis/diagnosis , Choroiditis/drug therapy , Crohn Disease/complications , Crohn Disease/diagnosis , Crohn Disease/drug therapy , Humans , Intravitreal Injections , Male , Papilledema/diagnosis , Papilledema/drug therapy , Papilledema/etiology , Vascular Endothelial Growth Factor ASubject(s)
Face/pathology , Xanthogranuloma, Juvenile/diagnosis , Female , Humans , Infant , Xanthogranuloma, Juvenile/pathologyABSTRACT
Mitochondrial dysfunction lies behind many neurodegenerative disorders, owing largely to the intense energy requirements of most neurons. Such mitochondrial dysfunction may work through a variety of mechanisms, from direct disruption of the electron transport chain to abnormal mitochondrial biogenesis. Recently, we have identified biallelic mutations in the mitochondrial flavoprotein "ferredoxin reductase" (FDXR) gene as a novel cause of mitochondriopathy, peripheral neuropathy, and optic atrophy. In this report, we expand upon those results by describing two new cases of disease-causing FDXR variants in patients with variable severity of phenotypes, including evidence of an inflammatory response in brain autopsy. To investigate the underlying pathogenesis, we examined neurodegeneration in a mouse model. We found that Fdxr mutant mouse brain tissues share pathological changes similar to those seen in patient autopsy material, including increased astrocytes. Furthermore, we show that these abnormalities are associated with increased levels of markers for both neurodegeneration and gliosis, with the latter implying inflammation as a major factor in the pathology of Fdxr mutations. These data provide further insight into the pathogenic mechanism of FDXR-mediated central neuropathy, and suggest an avenue for mechanistic studies that will ultimately inform treatment.
Subject(s)
Alleles , Iron-Sulfur Proteins/genetics , Mutation , Neurodegenerative Diseases/genetics , Oxidoreductases/genetics , Animals , Brain/enzymology , Brain/pathology , Female , Humans , Inflammation/enzymology , Inflammation/genetics , Inflammation/pathology , Iron-Sulfur Proteins/metabolism , Male , Mice , Mice, Transgenic , Neurodegenerative Diseases/enzymology , Neurodegenerative Diseases/pathology , Oxidoreductases/metabolismABSTRACT
Although inflammatory myofibroblastic tumors (IMTs) are seen in the lower respiratory tract in the pediatric population, few cases occurring in the larynx have been reported in the literature. Treatment of choice is complete surgical excision because of risk of recurrence. We describe a case of pediatric subglottic IMT presenting with progressive hoarseness and symptoms of persistent reactive airway treated with potassium titanyl phosphate laser. We also enumerate the number of pediatric cases of IMT that occur in the larynx and subglottis compared with those which occur in the upper respiratory tract, specifically the trachea and bronchi. To the best of our knowledge, this is the first reported case of respiratory tract IMT excision using a potassium titanyl phosphate laser and the second reported case of a pediatric laryngeal IMT showing anaplastic lymphoma kinase-1 immunoreactivity.
Subject(s)
Granuloma, Plasma Cell/surgery , Laryngeal Diseases/surgery , Laser Therapy/instrumentation , Lasers, Solid-State , Anaplastic Lymphoma Kinase , Biopsy , Child, Preschool , Female , Granuloma, Plasma Cell/complications , Granuloma, Plasma Cell/diagnosis , Granuloma, Plasma Cell/enzymology , Hoarseness/etiology , Humans , Immunohistochemistry , Laryngeal Diseases/complications , Laryngeal Diseases/diagnosis , Laryngeal Diseases/enzymology , Laryngoscopy , Laryngostenosis/etiology , Receptor Protein-Tyrosine Kinases/analysis , Tomography, X-Ray Computed , Treatment OutcomeABSTRACT
Clostridium difficile infection is the primary cause of health care-associated diarrhea. While most laboratories have been using rapid antigen tests for detecting C. difficile toxins, they have poor sensitivity; newer molecular methods offer rapid results with high test sensitivity and specificity. This study was designed to compare the performances of two molecular assays (Meridian illumigene and BD GeneOhm) and two antigen assays (Wampole Quik Chek Complete and TechLab Tox A/B II) to detect toxigenic C. difficile. Fecal specimens from hospitalized patients (n = 139) suspected of having C. difficile infection were tested by the four assays. Nine specimens were positive and 109 were negative by all four methods. After discrepant analysis by toxigenic culture (n = 21), the total numbers of stool specimens classified as positive and negative for toxigenic C. difficile were 21 (15%) and 118 (85%), respectively. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were as follows: GeneOhm (95.2%, 100%, 100%, and 99.2%), illumigene (95.2%, 96.6%, 83.3%, and 99.2%), Tox A/B II (52.4%, 97.5%, 78.6%, and 92.4%), and Quik Chek Complete (47.6%, 100%, 100%, and 91.9%). The illumigene assay performed comparably to the GeneOhm assay with a slight decrease in test specificity; the sensitivities of both far exceeded those of the antigen assays. The clinical characteristics of the concordant and discrepant study patients were similar, including stool consistency and frequency. In the era of rapid molecular-based tests for toxigenic C. difficile, toxin enzyme immunoassays (EIAs) should no longer be considered the standard of care.
