Whole‐transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late‐onset segmental Darier disease

xlomafota13 shared this article with you from Inoreader Whole‐transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late‐onset segmental Darier disease Via Experimental Dermatology ABSTRACT An 82-year-old female patient presented with a recent onset of painful skin lesions in unilateral distribution on the abdominal area following the lines of Blaschko; the initial diagnosis of Varicella-zoster infection was made. However, because the individual lesions appeared as hyperkeratotic papules and were unresponsive to antiviral therapy, a skin biopsy was performed, which revealed hyperkeratosis, suprabasal acantholysis and dyskeratosis with corps ronds and grains, consistent with acantholytic dyskeratotic acanthoma. Since this entity has been associated with Darier disease, whole transcriptome sequencing by RNA-Seq was performed on RNA isolated from a lesion as well as from adjacent normal appearing skin, and a recently developed bioinformatics pipeline that can identify both genomic sequence variants and the presence of any of over 900 viruses was applied. Two pathogenic missense mutations in the ATP2A2 gene were identified in the lesional but not in normal appeari ng skin, and no evidence of Varicella-Zoster infection was obtained. These findings confirm the diagnosis of segmental Darier disease due to postzygotic mutations in the ATP2A2 gene, and attest to the power of a novel single-step application of RNA-Seq in providing correct diagnosis in this rare genodermatosis. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Electrically evoked auditory brainstem responses in deaf patients with Mondini malformation during cochlear implantation

xlomafota13 shared this article with you from Inoreader Electrically evoked auditory brainstem responses in deaf patients with Mondini malformation during cochlear implantation Via http://link.springer.com/journal/405,European archives of oto-rhino-laryngology,The European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino Eur Arch Otorhinolaryngol. 2022 Mar 5. doi: 10.1007/s00405-022-07307-9. Online ahead of print. ABSTRACT PURPOSE: To investigate the auditory pathway functions in deaf patients with Mondini malformation using the electrically evoked auditory brainstem response (EABR) during cochlear implantation (CI). METHODS: A total of 58 patients with severe to profound sensorineural hearing loss (SNHL) were included in this study. Of these patients, 27 cases had Mondini malformation and 31 control cases had no inner ear malformations (IEMs). Intraoperative EABRs evoked by electrical stimulation at the round window niche (RWN) and round window membrane (RWM) were recorded. RESULTS: Patients with Mondini malformation showed significantly lower EABR extraction rates than those with no IEMs did. However, for patients who showed EABRs, no significant difference in EABR thresholds, wave III (eIII) latencies, wave V (eV) latencies or eIII-eV la tency intervals was found between two groups. CONCLUSION: The physiological functions of the peripheral auditory system in patients with Mondini malformation may divide into opposite extremes, as revealed by a robust EABR and the absence of the EABR, respectively. The auditory conduction function should be objectively and individually evaluated for patients with Mondini malformation by the EABR. PMID:35247096 | DOI:10.1007/s00405-022-07307-9 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

A Novel 3-Step Tuning Fork Hearing Test; Preliminary Report on Its Clinical Utility

xlomafota13 shared this article with you from Inoreader A Novel 3-Step Tuning Fork Hearing Test; Preliminary Report on Its Clinical Utility Via Otolaryngology Indian Abstract It is pertinent to have a Tuning Fork Hearing Test that stand-alone can detect severities (Mild, Moderate, Severe and Profound) and the types of hearing losses (Conductive, Sensorineural, and Mixed). A novel 3-Step Tuning Fork Hearing Test (3-STFHT) was attempted for the first time that could detect both the types and the severities of hearing losses. The study was aimed to describe the method of the 3-STFHT and evaluate its clinical utility and reliability. Research Design: Hospital-based observational study of a diagnostic tool. Settings: Otorhinolaryngology Department of a tertiary care medical college hospital. Subjects: 108 adult patients (216 ears) who required hearing evaluation. Main Outcome measures: Sensitivity and specificity of novel 3-STFHT were assessed by comparing its results with the reports of pure tone audiometry in detecting the type and severity of hearing loss. The new 3-STFHT was found very effective (100% sensitivity and specificity) in de tecting conductive and profound sensorineural hearing losses. The sensitivity in detecting sensorineural hearing loss was found 97%-100%. The sensitivity was observed relatively low (92%) at detecting mixed hearing loss. The overall sensitivity and specificity of the 3-STFHT in detecting the types of hearing losses was found 97% and 86% respectively. The novel 3-STFHT, which is simple and convenient, was found very effective in detecting the types and severity of hearing losses. The 3-STFHT can be an important tool in otorhinolaryngology practice and in primary care setting for detecting and screening the types and severities of hearing losses. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Cost of Total Intravenous Anesthesia Versus Inhalation Anesthesia in Obstructive Sleep Apnea Surgery

xlomafota13 shared this article with you from Inoreader Cost of Total Intravenous Anesthesia Versus Inhalation Anesthesia in Obstructive Sleep Apnea Surgery Via The Laryngoscope ABSTRACT Objectives To compare cost and time spent in surgical and postoperative courses in patients with obstructive sleep apnea (OSA) undergoing surgery with either total intravenous anesthesia (TIVA) or inhalational anesthesia. Study Design Retrospective chart review. Methods Retrospective review on patients undergoing surgery for OSA under general anesthesia from January 2019 to October 2020. Cost per service was acquired for the day of surgery. Results A total of 230 patients were included: 95 received TIVA; 135 received inhalation anesthesia. Total cost was significantly higher in the TIVA nasal surgery group by $286 (P = .035). TIVA produced significantly higher pharmacy and operating room costs across all surgeries and OSA severities. These increased costs were offset by significantly lower supply costs in upper airway stimulator (UAS, −$419.50; P = .007) and uvulopalatopharyngoplasty (UPPP, −$115.16; P = .015) patients receiving TIVA. In the TIVA cohort, there was a trend toward lower recovery room costs after UAS (−$111.09; P = .063) and nasal surgery (−$64.45; P = .096) and anesthesia costs after nasal surgery (−$36.67; P = .054). Total recovery time was reduced by 18 minutes (P = .004) for nasal surgery, 25 minutes (P = .043) for UAS, and 27 minutes (P  ;= .147) for UPPP patients receiving TIVA. Conclusion When used in an outpatient setting for patients with OSA, TIVA adds to pharmacy and operating room costs, but this is usually offset by lower supply, anesthesia, and recovery room costs. We found decreased recovery times in the TIVA cohort. TIVA has proven benefits in patient outcomes and can be cost-effective in OSA surgery. Level of Evidence 3 Laryngoscope, 2022 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Limited contribution of indocyanine green (ICG) angiography for the detection of parathyroid glands and their vascularization during total thyroidectomy: A STROBE observational study

xlomafota13 shared this article with you from Inoreader Limited contribution of indocyanine green (ICG) angiography for the detection of parathyroid glands and their vascularization during total thyroidectomy: A STROBE observational study Via European Annals of Otorhinolaryngology, Head and Neck Diseases Publication date: Available online 2 March 2022 Source: European Annals of Otorhinolaryngology, Head and Neck Diseases Author(s): J. Quéré, G. Potard, R. Le Pennec, R. Marianowski, J.-C. Leclere View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Papillary Thyroid Carcinoma: An Autobiographical Case Report

xlomafota13 shared this article with you from Inoreader Papillary Thyroid Carcinoma: An Autobiographical Case Report Via radioactive iodine Cureus. 2022 Feb 24;14(2):e22559. doi: 10.7759/cureus.22559. eCollection 2022 Feb. ABSTRACT Papillary thyroid carcinoma (PTC) is the most common malignant thyroid neoplasm with the median age at presentation for papillary carcinoma being around 50 years. This case report describes the author's experience of being diagnosed with PTC at the age of 25, as well as the course of treatment, and eventual outcome. PMID:35237493 | PMC:PMC8882045 | DOI:10.7759/cureus.22559 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Magnetic Resonance-Guided Diagnosis of Spontaneous Intracranial Hypotension in a Middle-Aged Woman

xlomafota13 shared this article with you from Inoreader Magnetic Resonance-Guided Diagnosis of Spontaneous Intracranial Hypotension in a Middle-Aged Woman Via leak of cerebrospinal fluid Case Rep Neurol Med. 2022 Feb 21;2022:4438923. doi: 10.1155/2022/4438923. eCollection 2022. ABSTRACT Spontaneous intracranial hypotension (SIH) is a rare condition caused by a cerebrospinal fluid (CSF) leak. It is diagnosed by clinical features that include an orthostatic headache combined with imaging findings demonstrating intracranial hypotension and a CSF leak. We present the case of a 45-year-old woman with an orthostatic headache who was found to have a sagging brain with a downward-displaced cerebellum and pachymeningeal enhancement with gadolinium contrast. This was initially misidentified as a Chiari I malformation, but the constellation of symptoms and MRI findings were later recognized as characteristic of SIH. Diagnosis of SIH and a CSF leak was confirmed with CT myelography. She was treated with a nontarget epidural blood patch, and her symptoms resolved. An orthostatic headache, a sagging brain, and pachymeningeal enhance ment on MRI are highly specific for SIH, raising suspicion for this uncommon and often missed diagnosis. PMID:35237456 | PMC:PMC8885260 | DOI:10.1155/2022/4438923 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.