Werdnig-Hoffmann disease: Proposal of a pathogenetic mechanism

Chronic actinic dermatitis (CAD), a photosensitive dermatosis, is characterized by inflammatory lesions, especially on sun-exposed skin. However, its pathogenesis remains unclear. In this study, second-generation RNA sequencing and comprehensive bioinformatics analyses of mRNAs and long noncoding RNAs (lncRNAs) were performed to determine the transcriptome profiles of patients with CAD. A total 6889 annotated lncRNAs, 341 novel lncRNAs, and 65091 mRNAs were identified. Interestingly, patients with CAD and healthy controls showed distinct transcriptome profiles. Indeed, 198 annotated (81.48%) and 45 novel (18.52%) lncRNAs were differentially expressed between the two groups. GO, KEGG, and RGSEA analyses of lncRNAs showed that inflammatory and immune response related pathways played crucial roles in the pathogenetic mechanism of CAD. In addition, we unveiled key differentially expressed lncRNAs, including lncRNA RP11-356I2.4 which plays a role probably by regulating TNFAIP3 and inflammation. qRT-PCR data validated the differentially expressed genes. The newly identified lncRNAs may have potential roles in the development of CAD; these findings lay a solid foundation for subsequent functional exploration of lncRNAs and mRNAs as therapeutic targets for CAD.

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Glossopharyngeal Neuralgia-Asystole Syndrome Secondary to Parapharyngeal Space Lesions

Otolaryngology ◽

10.1177/019459988209000104 ◽

1982 ◽

Vol 90 (1) ◽

pp. 16-19 ◽

Cited By ~ 22

Author(s):

Steven M. Sobol ◽

Benjamin G. Wood ◽

J. Michael Conoyer

Keyword(s):

Parapharyngeal Space ◽

Glossopharyngeal Neuralgia ◽

Pathogenetic Mechanism

Glossopharyngeal neuralgia has been reported in association with asystole, bradycardia, and convulsions secondary to a variety of causes. Two cases of glossopharyngeal neuralgia-asystole syndrome in association with ipsilateral lesions of the parapharyngeal space are described. A pathogenetic mechanism is proposed in which parapharyngeal space lesions induce neural irritation of the glossopharyngeal afferent pain fibers and reflex afferents within the nerve of Hering to produce the syndrome. The diagnostic and therapeutic dilemmas posed by these patients are discussed.

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IDIOPATHIC PULMONARY HEMOSIDEROSIS

PEDIATRICS ◽

10.1542/peds.19.6.1101 ◽

1957 ◽

Vol 19 (6) ◽

pp. 1101-1108

Author(s):

Konrad H. Soergel

Keyword(s):

Young Patients ◽

Review Of The Literature ◽

Mild Form ◽

Pathogenetic Mechanism ◽

Diagnostic Measures ◽

Pulmonary Hemosiderosis ◽

Number Of Patients ◽

Antihistaminic Drugs ◽

Idiopathic Pulmonary Hemosiderosis ◽

Better Than

Two fatal cases of idiopathic pulmonary hemosiderosis are reported. A review of the literature shows the prognosis of this disease to be, at least in young patients, somewhat better than generally thought. A positive diagnosis in the living patient is possible with the help of certain diagnostic measures which are discussed. Increasing familiarity with the rather typical manifestations of this disorder may lead to the discovery of a larger number of patients who have a mild form of the disease. The value of splenectomy and therapy with adrenocorticotropin and cortisone is still questionable, but further trials are necessary, possibly together with the use of antihistaminic drugs. Intermittent increases in pressure in the pulmonary circulation, due to a defective vasomotor control, appears to be the most likely pathogenetic mechanism but more investigations are needed to arrive at any positive conclusion.

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