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Κυριακή 6 Φεβρουαρίου 2022

A comprehensive analysis of intratumor microbiome in head and neck squamous cell carcinoma

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Eur Arch Otorhinolaryngol. 2022 Feb 5. doi: 10.1007/s00405-022-07284-z. Online ahead of print.

ABSTRACT

PURPOSE: Human microbiome has been considered as the second genome of our body. The intratissue/intratumor microbiome analysis is a relatively new field and deserves more attention. In this study, we conducted a comprehensive analysis of microbiome signatures of head and neck squamous cell carcinoma (HNSC).

METHODS: The intratumor microbiome profiling and clinicopathological information about a total of 177 HNSC samples, including 155 tumors and 22 adjacent normal tissues, were obtained from The Cancer Microbiome Atlas (TCMA) and The Cancer Genome Atlas (TCGA) databases. We identified the microbes that differed between tumors and normal tissues, and assessed their utility values as diagnostic biomarkers. The microbiome signatures under different conditions of clinicopathological parameters were also analyzed.

RESULTS: The intratissue microbiome profiles differed between tumor and normal samples of HNSC. The composition of four, six, and six microbes changed in tumors compared to normal tissues at the phylum, order, and genus levels, respectively (P < 0.05). Eight of the differential microbes performed well in distinguishing tumors from normal tissues (AUC > 0.7, P ≤ 0.001). The microbiome signature was found to be associated with tumor clinicopathological characteristics such as host-gender, host-age, tumor stage, and neoplasm histologic grade.

CONCLUSION: Overall, our results revealed an intratissue microbiome signature of HNSC. We concluded that the intratumor microbiome signature may also reflect human biology in both healthy and disease status, and provide novel perspective for microbiota research about their roles in tumors.

PMID:35122129 | DOI:10.1007/s00405-022-07284-z

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Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases

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Abstract

Mutations in the human FAM111B gene are associated with a rare, hereditary multi-systemic fibrosing disease, POIKTMP. To date, there are ten POIKTMP-associated FAM111B gene mutations reported in thirty-six patients from five families globally.

To investigate the clinical significance of these mutations, we summarized individual cases by clinical features and position of the reported FAM111B gene mutations as those within and outside the putative protease domain (MWPPD and MOPPD, respectively).

MWPPD cases had more clinical manifestations than MOPPD (25 versus 18). Although the most common clinical features of poikiloderma, alopecia, and hypohidrosis overall occurred in 94%, 86%, and 75% of all cases with no significant differences between the MOPPD and MWPPD group, less common features included life-threatening (pulmonary fibrosis 47 % vs. 13 %; liver abnormalities specifically cirrhosis 26 % vs. 7 %) and physically disabling conditions (myopathy 53% vs. 20%; tendon contracture 55% vs. 7%) were more common in MWPPD cases. Similarly, the only 2 cases of POIKTMP with fatal pancreatic cancers were both only in the MWPPD group.

This review thus suggests that mutations within the putative protease domain of the FAM111B protein are associated with a broader range of clinical features and may predict increased POIKTMP severity and a poorer prognosis.

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Hybrid Renal Cortical Imaging with Single Photon Emission Computerized Tomography/Computed Tomography in a Pediatric Patient with Severe Caudal Regression Syndrome

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Mol Imaging Radionucl Ther. 2022 Feb 2;31(1):69-71. doi: 10.4274/mirt.galenos.2020.84755.

ABSTRACT

Caudal regression syndrome (CRS) or sacral agenesis is a rarely seen malformation with a varying degree of structural abnormalities, including multiorgan system dysfunctions, reported with higher incidence among children of mothers with diabetes, as in this case. Spinal anomalies can range from coccyx hemiagenesis to the total absence of lower lumbar vertebrae and sacrum in most severe cases. Herein, we have presented a 9-year-old patient with CRS who had renal failure. Technetium-99m dimercaptosuccinic acid renal scintigraphy revealed bilaterally non-functioning kidneys with no renal cortical uptake. Renal anomalies in CRS with vertebral, anorectal, cardiac, trachea-esophageal, renal, and limb anomalies association include one-sided renal agenesis, multicystic dysplastic kidneys, and ureter duplications.

PMID:35114757 | DOI:10.4274/mirt.galenos.2020.84755

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Πέμπτη 3 Φεβρουαρίου 2022

Metastatic Meningioma of the Neck: A Case Report and Systematic Review

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Background: Although meningiomas are the most common central nervous system neoplasms, extracranial metastases are exceedingly rare. There are even fewer reports of metastatic meningiomas to the neck. Methods: We described a patient with multiply recurrent orbital meningioma with metastasis to the neck found incidentally during neck exploration for composite resection and free tissue reconstruction. We performed a systematic review for all records pertaining to metastatic meningiomas to the cervical regions. Results: We found 9 previous reports of cervical metastatic meningiomas. Almost all cases underwent extensive local resection. There was no evidence of an association between the histological grade of the tumor and risk of metastasis to the neck. Cervical lymph node dissemination is more common in patients presenting after previous primary tumor resection. Conclusions: In the context of a neck mass, our findings suggest that metastatic meningioma should be included in the differential diagnosis, especially in patients with previous resections.
ORL
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Changes in the Sphenoid Bone Encountered During the Endoscopic Endonasal Transsphenoidal Approach

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Objectives

We estimated volume changes in the posterior bony wall of the sphenoid sinus, as well as alterations in nasal function (including olfactory function and subjective symptoms), after sphenoid mucosal repositioning using the endoscopic endonasal transsphenoidal approach (EETSA).

Methods

During 2010 and 2021, 13 patients underwent sphenoid mucosal repositioning during EETSA, while 24 patients (the control group) did not. Pre- and postoperative paranasal sinus computed tomography and the Mimics program were used to evaluate three-dimensional changes in the posterior wall of the sphenoid sinus. All patients underwent the Connecticut Chemosensory Clinical Research Center (CCCRC) test, the Cross-Cultural Smell Identification Test (CCSIT), Nasal Obstruction Symptoms Evaluation (NOSE), the Sino-Nasal Outcome Test-20 (SNOT-20), and visual analog scale (VAS) evaluation.

Results

The increase in the volume of the posterior wall of the sphenoid sinus after surgery was objectively smaller in the sphenoid mucosal repositioning group than in the control group (P = .046). However, this did not affect olfactory function (as revealed by the CCCRC test or the CCSIT) or subjective symptoms (as revealed by the NOSE, SNOT-20, and VAS scores) (all P > .05).

Conclusion

Surgical closure via sphenoid mucosal repositioning during EETSA reduces the volume of the posterior wall of the sphenoid sinus and facilitates re-operation. We suggest that sphenoid mucosal repositioning is appropriate during EETSA.

Level of Evidence

4 Laryngoscope, 2022

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Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

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J Med Genet. 2022 Feb 2:jmedgenet-2021-108219. doi: 10.1136/jmedgenet-2021-108219. Online ahead of print.

ABSTRACT

Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal development of first and second branchial arches derivatives during embryogenesis and is characterised by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical and genetic heterogeneity of this spectrum with incomplete penetrance and variable expressivity, render its molecular diagnosis difficult. Only a few recurrent CNVs and genes have been identified as causatives in this complex disorder so far. Prenatal environmental causal factors have also been hypothesised. However, most of the patients remain without aetiology. In this review, we aim at updating clinical diagnostic criteria and describing genetic and non-genetic aetiologies, animal models as well as novel diagnostic tools and surgical managemen t, in order to help and improve clinical care and genetic counselling of these patients and their families.

PMID:35110414 | DOI:10.1136/jmedgenet-2021-108219

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Prognostic scores in laryngeal cancer

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Eur Arch Otorhinolaryngol. 2022 Feb 2. doi: 10.1007/s00405-021-07233-2. Online ahead of print.

ABSTRACT

PURPOSE: To evaluate the utility of various pre-treatment prognostic scoring systems for overall survival (OS) in laryngeal cancer, including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), lymphocyte-to-monocyte ratio (LMR), modified Glasgow Prognostic Score (mGPS) and systemic immune-inflammatory index (SIII).

METHODS: We undertook a retrospective 5-year study of 220 patients with laryngeal squamous cell carcinoma undergoing active treatment.

RESULTS: On multivariate analysis, low NLR (≤ 2.415, p = 0.001, OR 3.851), low PLR (≤ 269.855, p = 0.002, OR 5.520), high LMR (> 2.225, p < 0.001, OR 0.458) and low SIII (≤ 1144.465, p = 0.003, OR 3.673) were significantly associated with improved OS, accounting for confounding factors of tumour subsite, T-stage and performance status. C-reacti ve protein (CRP) alone (p = 0.264) and mGPS (p = 0.350) were not significantly associated with OS.

CONCLUSIONS: NLR, PLR, LMR and SIII represent inexpensive, easily obtainable adjuvant decision-making tools which could help tailor individualised treatment regimes. Further investigation into the utility of combination scores and the role of different laryngeal subsites may be of interest.

PMID:35112153 | DOI:10.1007/s00405-021-07233-2

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Replacement and Immunomodulatory Activities of 20% Subcutaneous Immunoglobulin Treatment: A Single-Center Retrospective Study in Autoimmune Myositis and CVID Patients

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Front Immunol. 2022 Jan 17;12:805705. doi: 10.3389/fimmu.2021.805705. eCollection 2021.

ABSTRACT

BACKGROUND: Immunoglobulin (Ig) replacement therapy represents a life-saving treatment in primary antibody deficiencies. The introduction of subcutaneous Ig (SCIg) administration brings a major improvement in quality of life for patients, compared to the traditional intravenous administration. In recent years, an additional role has been proposed for Ig therapy for various inflammatory and immune-mediated diseases. Consequently, the use of SCIg has expanded from immunodeficiencies to immune-mediated diseases, such as polymyositis (PM) and dermatomyositis (DM). Given the rarity of these conditions, it is still difficult to evaluate the real impact of SCIg treatment on PM and DM, and additional data are constantly required on this topic, particularly for long-term treatments in real-life settings.

AIM: This study aimed to increase the knowledg e about the anti-inflammatory and immunomodulatory effects of SCIg treatment for myositis. To this aim, a long-term evaluation of the effectiveness of 20% human SCIg treatment (20% SCIg, Hizentra®, CSL Behring) was carried out in patients with PM/DM in care at our Center. In addition, an evaluation of the 20% SCIg therapy in CVID patients was provided. This analysis, beside adding knowledge about the use of SCIg therapy in this real-life setting, was intended as a term of comparison, regarding the safety profile.

RESULTS: Results support the beneficial effect and tolerability of long-term 20% SCIg therapy in PM/DM patients, reporting a significant improvement in creatine kinase levels, muscle strength, skin conditions, dysphagia, disease activity (MITAX score) and disability (HAQ-DI score). None of the patients reported systemic reactions. The duration of the reported local reactions was a few hours in 80% of the patients, and all resolved spontaneously. CVID patie nts reported an improvement in all the considered effectiveness parameters at the end of 20% SCIg therapy. The frequency of the adverse events reported by PM/DM patients was not different from what reported in CVID patients, where the use of SCIg therapy is more consolidated.

CONCLUSIONS: This study suggests that 20% SCIg treatment represents a viable and safe treatment for PM/DM patients and a valid therapeutic alternative to IVIg, with important advantages for patients' quality of life.

PMID:35111165 | PMC:PMC8801806 | DOI:10.3389/fimmu.2021.805705

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Surgical strategy for squamous cell carcinoma of the external auditory canal: management of locally advanced cases with skull base involvement

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10.1055-a-1733-2585-1.jpg

J Neurol Surg B Skull Base
DOI: 10.1055/a-1733-2585

Objective Surgical indications for advanced-stage squamous cell carcinoma (SCC) of the external auditory canal (EAC) are highly dependent on the skull base surgery team. The aim of this study was to evaluate the surgical outcomes in patients with SCC of the EAC and to clarify the surgical indication of far advanced cases using the T4-subclassification. Methods Patients with SCC of the EAC who underwent curative treatment from 2002-2021 were retrospectively reviewed at our hospital. Clinical and surgical results, including operative data, overall survival (OS), and disease-specific survival (DSS) were analyzed. To clarify the surgical indication for advanced stage, we proposed the T4-subclassification. Results In 46 patients, the tumors were in T1 stage in 8 patients, T2 in 10, T3 in 5, and T4 in 23. The 5-year DSS with T1, T2, T3, and T4 tumors were 100%, 85.7%, 100%, and 61.7%, respectively. No prognostic impacts for margin status were found between the 5-year OS and DSS (p = 0.23 and p = 0.13). Patients with far advanced stage (T4b) tumors were significantly associated with shorter DSS than those with early stage (T1/T2) and advanced stage (T3/T4a) tumors (p = 0.007 and p = 0.03). Conclusion The present study focused on patients with SCC of the EAC at a University hospital over a period of 20-years, especially with skull base involvement, and a T4-subclassification was proposed. Complete tumor resection in an en bloc fashion could help to achieve a good survival rate even in patients with locally advanced tumors.
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Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

Article in Thieme eJournals:
Table of contents  |  Abstract

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Τετάρτη 2 Φεβρουαρίου 2022

Artemisinin resistance: an important emerging clinical problem in tropical medicine

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Int J Physiol Pathophysiol Pharmacol. 2021 Dec 15;13(6):152-157. eCollection 2021.

ABSTRACT

Artemisinin is an important antimalarial drug which is originated and developed from Chinese traditional herbal regimen. At present, artemisinin is used as an antimalarial drug for treatment of drug resistant malarial infection. The effectiveness of artemisinin is clinically accepted. Hence, artemisinin is currently used as main drug for malaria treatment in many tropical countries. Artemisinin resistance is a new emerging clinical problem in tropical medicine. New mutation can result in artemisinin resistance and the resistance becomes important new emerging problem in clinical malariology. It is necessary to control of artemisinin use and searching for new effective drug against artemisinin resistant malaria. In this article, the authors summarizes on important updated information regarding artemisinin resistance.

PMID:35103097 | PMC:PMC8784654

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Evaluation of different setting configurations with a new developed telemedical interface of a parallel kinematic robotic system ‐ an experimental development study

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ABSTRACT

Background

For development of a minimally invasive intracorporal micromanipulator, a master-slave telemanipulation system was required.

Methods

Different input positions for a tablet-based input device with a heads-up centered screen were evaluated. Personal preference was assessed using a questionnaire. Then, the most ergonomic and intuitive position was compared to a surgical reference position based on laparoscopic sigmoid resection.

Results

After comparing a 45°, 75° (pitch) and 60°/20° (pitch/yaw) to a 60° reference position no significant differences in processing time and number of failures could be demonstrated. Study participants indicated the 60°/20° position as the most comfortable in the questionnaire. This was therefore compared with the laparoscopic reference position, both sitting and standing. Here, the laparoscopic sitting position was perceived to be the most ergonomic.

Conclusions

The developed input device offers a maximum of flexibility and individualization to reach ergonomic and intuitive conditions. General recommendations regarding an optimal setting cannot be given, based on our results.

This article is protected by copyright. All rights reserved.

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