Τετάρτη 31 Μαρτίου 2021

A Rare Clinical Report of Intramuscular Hemangioma of the Middle Scalene Muscle

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Ear Nose Throat J. 2021 Mar 31:1455613211003834. doi: 10.1177/01455613211003834. Online ahead of print.

ABSTRACT

Intramuscular hemangioma (IMH) is an uncommon benign vascular lesion, which develops in skeletal muscles and it accounts for <1% of all hemangiomas. The accurate diagnosis is often difficult because the clinical and radiological findings are not specific. The gold standard treatment of IMH is surgical resection. We present a rare clinical report of IMH of the m iddle scalene muscle that was treated successfully with preoparative embolization and surgical excision.

PMID:33784878 | DOI:10.1177/01455613211003834

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Delayed Tracheal Perforation Following Total Thyroidectomy

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Abstract

Delayed tracheal rupture following total thyroidectomy (TT) is rare and represents a potential airway emergency. A 34‐year‐old female with Felty Syndrome underwent TT for Hashimoto's thyroiditis. On post‐operative day 10, she presented with subcutaneous emphysema and an anterolateral tracheal perforation on CT scan. Urgent operative exploration revealed transmural tracheal necrosis and a 5 mm perforation. This was oversewn with non‐absorbable suture and a strap muscle flap rotated over the defect to promote healing. Repeat direct laryngoscopy at 72 hours revealed healing tissue. Tracheal necrosis and perforation following TT constitutes a potential airway emergency and should be promptly explored and repaired. Laryngoscope, 2021

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Podoplanin is required for tumor cell invasion in cutaneous squamous cell carcinoma

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Abstract

The invasiveness of late stage cutaneous squamous cell carcinoma (cSCC) is associated with poor patients' prognosis and linked to strong upregulation of the glycoprotein Podoplanin (PDPN) in cancer cells. However, the function of PDPN in these processes in cSCC carcinogenesis has not been characterized in detail yet. Employing a CRISPR/Cas9‐based loss‐of‐function approach on murine cSCC cells, we show that the loss of Pdpn results in decreased migration and invasion in vitro. Complementing these in vitro studies, labeled murine control and Pdpn knockout cells were injected orthotopically into the dermis of nude mice to recapitulate the formation of human cSCC displaying a well‐differentiated morphology with a PDPN‐positive reaction in fibroblasts in the tumor stroma. Smaller tumors were observed upon Pdpn loss, which is associated with reduced tumor cell infiltration into the stroma. Utilizing Pdpn mutants in functional experim ents in vitro we provide evidence that both the intra‐ and extracellular domains are essential for cancer cell invasion. These findings underline the critical role of PDPN in cSCC progression and highlight potential therapeutic strategies targeting PDPN‐dependent cancer cell invasion especially in late‐stage cSCC patients.

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Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle Eastern population

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Abstract

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotype‐phenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds. Pathogenic variants were identified in most ARCI‐associated genes including TGM1 (21%), CYP4F22 (18%), ALOX12B (14%), ABCA12 (10%), ALOXE3 (6%), NIPAL4 (5%), PNPLA1 (3%), LIPN (2%) and SDR9C7 (2%). In 19% of cases, no mutation was identified. Our cohort revealed a higher prevalence of CYP4F22 and ABCA12 path ogenic variants and a lower prevalence of TGM1 and NIPAL4 variants, as compared to data obtained in other regions of the world. Most variants (89%) in ALOX12B were associated with CIE and were the most common cause of ARCI among patients of Muslim origin (26%). Palmoplantar keratoderma associated with fissures was exclusively a result of pathogenic variants in TGM1. To our knowledge, this is the largest cohort study of ARCI in the Middle Eastern population reported to date. Our data demonstrate the importance of population‐tailored mutation screening strategies and shed light upon specific genotype‐phenotype correlations.

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Prognostic and clinicopathological significance of GPRC5A in various cancers: A systematic review and meta-analysis

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by Lu Dai, Xiao Jin, Zheng Liu

Background

GPRC5A is associated with various cancer initiation and progression. Controversial findings have been reported about GPRC5A prognostic characteristics, and no meta-analysis has been conducted to assess the relationship between GPRC5A and cancer prognosis. Therefore, the objective of this meta-analysis is to evaluate the overall prognostic effectiveness of GPRC5A.

Methods

We first conducted a systematic search in the PubMed, Embase, Web of Science, CNKI, Cochrane, and WangFang databases. The hazard ratio (HR) and odds ratios (OR) with 95% CI were then pooled to assess the associations between GPRC5A expression and overall survival (OS), disease-free survival (DFS), event-free survival (EFS), and clinicopathological characteristics. Chi-squared test and I2 statistics were completed to evaluate the heterogeneity in our study. A random‐effects model was used when significant heterogeneity existed (I2>50% and p Results

In total, 15 st udies with 624 patients met inclusion criteria of this study. Our results showed that higher expression of GPRC5A is associated with worse OS (HR:1.69 95%CI: 1.20–2.38 I2 = 75.6% p = 0.000), as well as worse EFS (HR:1.45 95%CI: 1.02–1.95 I2 = 0.0% p = 0.354). Subgroup analysis indicated that tumor type might be the source of high heterogeneity. Additionally, cancer patients with enhanced GPRC5A expression were more likely to lymph node metastasis (OR:1.95, 95%CI 1.33–2.86, I2 = 43.9%, p = 0.129) and advanced tumor stage (OR: 1.83, 95%CI 1.15–2.92, I2 = 61.3%, p = 0.035), but not associated with age, sex, differentiation, and distant metastasis.

Conclusion

GPRC5A can be a promising candidate for predicting medical outcomes and used for accurate diagnosis, prognosis prediction for patients with cancer; however, the predictive value of GPRC5A varies significantly according to cancer type. Further stu dies for this mechanism will be necessary to reveal novel insights into application of GPRC5A in cancers.

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Two-phase survey on the frequency of use and safety of MRI for hearing implant recipients

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Eur Arch Otorhinolaryngol. 2021 Mar 31. doi: 10.1007/s00405-020-06525-3. Online ahead of print.

ABSTRACT

PURPOSE: Magnetic resonance imaging (MRI) is often used to visualize and diagnose soft tissues. Hearing implant (HI) recipients are likely to require at least one MRI scan during their lifetime. However, the MRI scanner can interact with the implant magnet, resulting in complications for the HI recipient. This survey, which was conducted in two phases, aimed to evaluate the safety and performance of MRI scans for individuals with a HI manufactured by MED-EL (MED-EL GmbH, Innsbruck, Austria).

METHODS: A survey was developed and distributed in two phases to HEARRING clinics to obtain information about the use of MRI for recipients of MED-EL devices. Phase 1 focused on how often MRI is used in diagnostic imaging of the head region of the cochlear implant (CI) recipients. Phase 2 collected safety information about MRI scans perfor med on HI recipients.

RESULTS: 106 of the 126 MRI scans reported in this survey were performed at a field strength of 1.5 T, on HI recipients who wore the SYNCHRONY CI or SYNCHRONY ABI. The head and spine were the most frequently imaged regions. 123 of the 126 scans were performed without any complications; two HI recipients experienced discomfort/pain. One recipient required reimplantation after an MRI was performed using a scanner that had not been approved for that implant. There was only one case that required surgical removal of the implant to reduce the imaging artefact.

CONCLUSION: Individuals with either a SYNCHRONY CI or SYNCHRONY ABI from MED-EL can safely undergo a 1.5 T MRI when it is performed according to the manufacturer's safety policies and procedures.

PMID:33788034 | DOI:10.1007/s00405-020-06525-3

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New study on prevalence of anosmia in COVID-19 implicates the D614G virus mutation as a major contributing factor to chemosensory dysfunction

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Eur Arch Otorhinolaryngol. 2021 Mar 31. doi: 10.1007/s00405-021-06759-9. Online ahead of print.

NO ABSTRACT

PMID:33788036 | DOI:10.1007/s00405-021-06759-9

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