Background There is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense. Objective We sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2. Methods An invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI. Results We gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died. Conclusions This study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2.

/pdf/coronavirus-disease-2019-in-patients-with-inborn-errors-of-4e4dhit8s8.pdf

Coronavirus Disease 2019 in patients with inborn errors of immunity: an international study.

Objective:To develop evidence-based recommendations for safe, effective, and appropriate thyroidectomy.Background:Surgical management of thyroid disease has evolved considerably over several decades leading to variability in rendered care. Over 100,000 thyroid operations are performed annually in th

The American Association of Endocrine Surgeons Guidelines for the Definitive Surgical Management of Thyroid Disease in Adults

Objectives/Hypothesis

To perform a systematic review of GJB2-associated hearing loss to describe genotype distributions and auditory phenotype.



Data Sources

230 primary studies identified from Pubmed.



Review Methods

Pubmed was searched systematically to screen broadly for any study reporting on genotype and carrier frequencies for biallelic GJB2-associated hearing loss in defined populations around the world. Genotype and audiometric data were extracted and subjected to meta-analysis to determine genotype distributions, carrier frequencies, rates of asymmetric or progressive hearing loss, and imaging abnormalities.



Results

A total of 216 articles comprising over 43,000 hearing-loss probands were included. The prevalence of biallelic GJB2-associated hearing loss was consistent across most of the 63 countries examined, with different mutations being predominant in different countries. Common mutations were found in greater than 3% of the general population worldwide. Meta-analysis of 48 case-control studies demonstrated a two-fold higher carrier frequency among hearing-impaired individuals compared to normal-hearing controls for truncating alleles, but not V37I. Progression, asymmetry, and imaging abnormalities were present in 14% to 19% of individuals with GJB2-associated hearing loss.



Conclusion

GJB2 mutations are highly prevalent around the world. The multiple predominant mutations present in different populations attest to the importance of this gene for normal cochlear function and suggests an evolutionary heterozygote advantage. The unusually high carrier rate for truncating mutations among hearing-impaired individuals is consistent with either the presence of complementary mutations or a carrier phenotype. The significant rate of asymmetry and progression highlights the importance of diagnostic workup and close follow-up for this highly variable condition. Laryngoscope, 124:E34–E53, 2014

GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype

OBJECTIVE. The objective of our study was to report the incidence of bleeding after imaging-guided percutaneous core biopsy at a single center using a standardized technique.MATERIALS AND METHODS. We performed a retrospective review of percutaneous core biopsies performed at our institution from January 2002 through February 2008. Data were collected at the time of biopsy, and clinical information was obtained 24 hours and 3 months after the biopsy. The specific information that was collected included the results of coagulation studies, aspirin use, the organ biopsied, the size of the biopsy needle, and the number of needle passes. Bleeding complications were defined using the Common Terminology Criteria for Adverse Events (CTCAE, version 3.0) established by the National Cancer Institute.RESULTS. Among the 15,181 percutaneous core biopsies performed during the study period, 70 hemorrhages (0.5%) that were CTCAE grade 3 or greater were identified within 3 months of biopsy. The incidence of bleeding in pati...

Incidence of Bleeding After 15,181 Percutaneous Biopsies and the Role of Aspirin

ObjectiveTo compare presentations of Meniere’s disease (MD), vestibular migraine (VM), and Meniere’s disease plus vestibular migraine (MDVM), with and without comorbid chronic subjective dizziness (CSD).Study DesignRetrospective review with diagnosis confirmed by consensus conference of investigator

Auditory and vestibular symptoms and chronic subjective dizziness in patients with Ménière's disease, vestibular migraine, and Ménière's disease with concomitant vestibular migraine.

Background
Core-needle biopsy (CNB) has occasionally been used in the work-up of head and neck lesions. However, no systematic review of this simple, minimally invasive method has yet been performed.

Methods
A systematic review of the literature and meta-analysis of data extracted from 16 included studies were performed. A total of 1291 cervical lesions in 1267 patients were examined by CNB. This resulted in 1232 adequate samples, from which 554 were subsequently confirmed by excisional biopsy.

Results
CNB was able to identify true neoplasms and detect malignancy in head and neck lesions with an overall accuracy of 94% and 96%, respectively, even though there was a significant difference between the histologically verified and all adequate samples. CNB provided a correct specific diagnosis in 87% of cases without major complications and achieved a higher accuracy than that of fine-needle aspiration in detecting malignancy.

Conclusions
This meta-analysis confirms that CNB is an excellent method in the assessment of salivary gland lesions and lymphadenopathies inclusive of malignant lymphoma, but it is not ideal for evaluating thyroid lesions. Head Neck, 2011

Role of ultrasound‐guided core‐needle biopsy in the assessment of head and neck lesions: A meta‐analysis and systematic review of the literature

Background

Narrow band imaging (NBI) is a new imaging technique for the depiction of tumor-specific neoangiogenesis. The purpose of the present study was to assess the value of NBI in the early diagnosis of laryngeal cancer.



Methods

This prospective study includes 205 consecutive patients with a laryngeal lesion scheduled for microlaryngoscopy. NBI was immediately performed after white light endoscopy (WLE), whereas excisional biopsy was carried out for histologic verification of diagnosis.



Results

In identifying laryngeal cancer and its precursor lesions, NBI with WLE showed a significantly higher sensitivity (97% vs 79%) and accuracy (97% vs 90%) than WLE alone, but the specificity (96% vs 95%) was essentially equal in both methods.



Conclusion

NBI qualifies for rapid detection and delineation of suspicious lesions. Additionally, this noninvasive method is also beneficial in a variety of benign lesions. © 2015 Wiley Periodicals, Inc. Head Neck, 2015

Value of narrow band imaging in the early diagnosis of laryngeal cancer

https://www.clinicalmicrobiologyandinfection.com/article/S1198-743X(16)30329-9/pdf

Impact of MALDI-TOF-MS-based identification directly from positive blood cultures on patient management: a controlled clinical trial

BACKGROUND: Core-needle biopsy (CNB) has been successfully applied in other medical specialties, but its value is undetermined in otolaryngology. METHODS: This prospective study includes 75 patients, who were seen at our institution with a cervical mass. The results of CNB were compared with those of fine-needle aspiration (FNA) in the 68 histologically verified cases. RESULTS: CNB was superior to FNA providing a specific diagnosis (90% vs 66%) and achieved a higher accuracy in identifying true neoplasms (100% vs 93%) and detecting malignancy (99% vs 90%). However, the sensitivity and specificity did not differ significantly between both methods. CONCLUSIONS: Sonography and if necessary FNA should continue to be the investigation method of first choice for head and neck lesions. The main indication for CNB is after repeated failures of FNA to provide a diagnosis. It can also be performed in patients who are not surgical candidates or in those who refuse surgery.

Nicolas Gürtler

Papers

Role of ultrasound‐guided core‐needle biopsy in the assessment of head and neck lesions: A meta‐analysis and systematic review of the literature

Value of narrow band imaging in the early diagnosis of laryngeal cancer

Impact of MALDI-TOF-MS-based identification directly from positive blood cultures on patient management: a controlled clinical trial

Comparison of ultrasound-guided core-needle biopsy and fine-needle aspiration in the assessment of head and neck lesions.

Paediatric otogenic lateral sinus thrombosis: therapeutic management, outcome and thrombophilic evaluation.