The Impact of Laryngopharyngeal Reflux on Occurrence and Clinical Course of Recurrent Respiratory Papillomatosis

2021 ◽  
Author(s):  
Daša Gluvajić ◽  
Maja Šereg‐Bahar ◽  
Aleš Jerin ◽  
Rado Janša ◽  
Irena Hočevar‐Boltežar
Keyword(s):  
Clinical Course ◽  
Laryngopharyngeal Reflux ◽  
Recurrent Respiratory Papillomatosis ◽  
The Impact

The Laryngeal Epithelium in Reflux

2011 ◽  
Vol 21 (3) ◽  
pp. 112-117 ◽  
Author(s):  
Elizabeth Erickson-Levendoski ◽  
Mahalakshmi Sivasankar
Keyword(s):  
Laryngopharyngeal Reflux ◽  
Critical Role ◽  
Structure And Function ◽  
Laryngeal Disease ◽  
Health And Disease ◽  
And Function ◽  
The Impact

The epithelium plays a critical role in the maintenance of laryngeal health. This is evident in that laryngeal disease may result when the integrity of the epithelium is compromised by insults such as laryngopharyngeal reflux. In this article, we will review the structure and function of the laryngeal epithelium and summarize the impact of laryngopharyngeal reflux on the epithelium. Research investigating the ramifications of reflux on the epithelium has improved our understanding of laryngeal disease associated with laryngopharyngeal reflux. It further highlights the need for continued research on the laryngeal epithelium in health and disease.

scholarly journals SARS-CoV-2 and Cytomegalovirus Co-Infections—A Case Series of Critically Ill Patients

2021 ◽  
Vol 10 (13) ◽  
pp. 2792
Author(s):  
Patrícia Moniz ◽  
Sérgio Brito ◽  
Pedro Póvoa
Keyword(s):  
Intensive Care Unit ◽  
Critically Ill ◽  
Immune Suppression ◽  
Clinical Course ◽  
Health Care Systems ◽  
Case Series ◽  
Confounding Factors ◽  
Care Systems ◽  
The Impact ◽  
Cmv Reactivation

The SARS-CoV-2 pandemic has placed great strain on the most developed of health care systems, especially in the context of critical care. Although co-infections with cytomegalovirus (CMV) are frequent in the critically ill due to underlying immune suppression of multiple causes, the impact on COVID-19 patients remains unclear. Furthermore, severe COVID-19 has recently been associated with significant immune suppression, and this may in turn impact CMV reactivation, possibly contributing to clinical course. Nevertheless, multiple confounding factors in these patients will certainly challenge upcoming research. The authors present a case series of five patients admitted to the intensive care unit (ICU) in the context of respiratory failure due to severe COVID-19. All patients evolved with CMV reactivation during ICU stay.

scholarly journals Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Ilaria Mannucci ◽  
Nghi D. P. Dang ◽  
Hannes Huber ◽  
Jaclyn B. Murry ◽  
Jeff Abramson ◽  
...  
Keyword(s):  
De Novo ◽  
Clinical Course ◽  
Neurodevelopmental Disorder ◽  
Global Developmental Delay ◽  
Helicase Activity ◽  
Speech Impairment ◽  
Human Phenotype ◽  
Missense Variants ◽  
The Impact ◽  
Global Translation

Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. We investigated the impact of novel missense variants with respect to ATPase and helicase activity, stress granule (SG) formation, global translation, and their effect on embryonic development in zebrafish. SG formation was additionally analyzed in CRISPR/Cas9-mediated DHX30-deficient HEK293T and zebrafish models, along with in vivo behavioral assays. Results We identified 25 previously unreported individuals, ten of whom carry novel variants, two of which are recurrent, and provide evidence of gonadal mosaicism in one family. All 19 individuals harboring heterozygous missense variants within helicase core motifs (HCMs) have global developmental delay, intellectual disability, severe speech impairment, and gait abnormalities. These variants impair the ATPase and helicase activity of DHX30, trigger SG formation, interfere with global translation, and cause developmental defects in a zebrafish model. Notably, 4 individuals harboring heterozygous variants resulting either in haploinsufficiency or truncated proteins presented with a milder clinical course, similar to an individual harboring a de novo mosaic HCM missense variant. Functionally, we established DHX30 as an ATP-dependent RNA helicase and as an evolutionary conserved factor in SG assembly. Based on the clinical course, the variant location, and type we establish two distinct clinical subtypes. DHX30 loss-of-function variants cause a milder phenotype whereas a severe phenotype is caused by HCM missense variants that, in addition to the loss of ATPase and helicase activity, lead to a detrimental gain-of-function with respect to SG formation. Behavioral characterization of dhx30-deficient zebrafish revealed altered sleep-wake activity and social interaction, partially resembling the human phenotype. Conclusions Our study highlights the usefulness of social media to define novel Mendelian disorders and exemplifies how functional analyses accompanied by clinical and genetic findings can define clinically distinct subtypes for ultra-rare disorders. Such approaches require close interdisciplinary collaboration between families/legal representatives of the affected individuals, clinicians, molecular genetics diagnostic laboratories, and research laboratories.

scholarly journals Persistence of SARS-CoV-2 in the first trimester placenta leading to transplacental transmission and fetal demise from an asymptomatic mother

2020 ◽  
Author(s):  
Prajakta Shende ◽  
Pradip Gaikwad ◽  
Manisha Gandhewar ◽  
Pawankumar Ukey ◽  
Anshul Bhide ◽  
...  
Keyword(s):  
Clinical Course ◽  
First Trimester ◽  
Hydrops Fetalis ◽  
Viral Rna ◽  
Fetal Membrane ◽  
Fibrin Deposition ◽  
Fetal Demise ◽  
Placental Infection ◽  
The Impact ◽  
S Proteins

Summary Coronavirus disease 2019 (COVID-19) is caused by infection of the respiratory tract by SARS-CoV-2 which survives in the tissues during the clinical course of infection but there is limited evidence on placental infection and vertical transmission of SARS-CoV-2. The impact of COVID-19 in first trimester pregnancy remains poorly understood. Moreover, how long SARS-CoV-2 can survive in placenta is unknown. Herein we report a case of a pregnant woman in the first trimester who tested positive for SARS-CoV-2 at 8 weeks of gestation although her clinical course was asymptomatic. At 13 weeks of gestation, her throat swab tested negative for SARS-CoV-2 but viral RNA was detected in the placenta and the Spike (S) proteins (S1 and S2) were immunolocalized in cytotrophoblast and syncytiotrophoblast cells of the placental villi. Histologically, the villi were generally avascular with peri-villus fibrin deposition and in some areas the syncytiotrophoblast layer appeared lysed. The decidua also had fibrin deposition with extensive leucocyte infiltration suggestive of inflammation. The SARS-CoV-2 crossed the placental barrier, as the viral RNA was detected in the amniotic fluid and the S proteins were detected in the fetal membrane. Ultrasonography revealed extensively subcutaneous edema with pleural effusion suggestive of hydrops fetalis and the absence of cardiac activity indicated fetal demise. This is the first study to provide concrete evidence of persistent placental infection of SARS-CoV-2 and its congenital transmission associated with hydrops fetalis and intrauterine fetal demise in early pregnancy.

Project HALO: A Post-Market, Observational Registry of Data Derived from Serenity LiquidTM, Serenity GenomeTM, and Clinical Parameters (Preprint)

2021 ◽  
Author(s):  
Monika Hagen ◽  
Danette Newton ◽  
Jonathan Richina ◽  
Petra Gambon Stow ◽  
Jonathan Douissard
Keyword(s):  
Clinical Data ◽  
Clinical Course ◽  
Genetic Data ◽  
Data Repository ◽  
Research Database ◽  
Clinical Parameters ◽  
Real World Setting ◽  
Post Market ◽  
Initial Dataset ◽  
The Impact

BACKGROUND Registries are a valuable tool for data collection and observation of medical innovations in a real-world setting. Serenity LiquidTM and Serenity GenomeTM are newly launched diagnostic platforms analyzing large genetic datasets in combination with clinical data to deliver precision preventative medicine. To this point, no systematic data is available to observe the use and clinical implementations of these platforms. OBJECTIVE To create a data repository collecting data from Serenity LiquidTM, Serenity GenomeTM, and clinical parameters for analyses. METHODS Individuals receiving Serenity LiquidTM or Serenity GenomeTM are solicited to participate in this registry. In addition to the initial dataset, a clinical update is secured every six months. Data from the registry participants are pseudo-anonymized and archived in a HIPPA-compliant research database for regular analyses. RESULTS Includes but is not limited to correlations between genetic and clinical data, the impact of genetic data on the clinical course of patients, comparisons between specific cohorts (within this database and against historical cohorts) on an ongoing basis. CONCLUSIONS This is a prospective registry collecting genetic and clinical data to gather important information, provide novel insights by continuously analyzing the data in this registry.

Clinical course of recurrent respiratory papillomatosis: Comparison between aggressiveness of human papillomavirus-6 and human papillomavirus-11

Head & Neck ◽  
2014 ◽  
Vol 37 (11) ◽  
pp. 1625-1632 ◽  
Author(s):  
Robin E. A. Tjon Pian Gi ◽  
Michel R. M. San Giorgi ◽  
Lorian Slagter-Menkema ◽  
Bettien M. van Hemel ◽  
Bernard F. A. M. van der Laan ◽  
...  
Keyword(s):  
Human Papillomavirus ◽  
Clinical Course ◽  
Recurrent Respiratory Papillomatosis

scholarly journals Substance use disorders and psychological trauma

2009 ◽  
Vol 33 (7) ◽  
pp. 257-260
Author(s):  
Shaheen Shora ◽  
Elizabeth Stone ◽  
Keron Fletcher
Keyword(s):  
Substance Use ◽  
Alcohol Dependence ◽  
Life Events ◽  
Substance Use Disorders ◽  
Best Practice ◽  
Clinical Course ◽  
Traumatic Events ◽  
Psychological Trauma ◽  
Clinical Implications ◽  
The Impact

Aims and MethodThe Impact of Events Scale was administered to 104 in-patients detoxing from alcohol or opiates to determine the prevalence of psychological trauma, the severity of its symptoms and the types of trauma responsible for symptoms.ResultsOut of the 104 in-patients undergoing detoxification, 75 had symptoms of psychological trauma; in 60 patients the symptoms were in the treatable range. Patients with alcohol-dependence were more severely affected. ‘Life events’ traumatised a higher proportion of individuals than ‘traumatic events’.Clinical ImplicationsPsychological trauma requiring treatment is commonly found in substance misusers. This is rarely addressed despite the cormorbid disorder running a complicated clinical course. There are conflicting opinions about best practice, but consideration should be given to providing patients with accessible treatments for psychological trauma.

Distribution Characteristics of Juvenile-Onset Recurrent Respiratory Papillomatosis at First-Time Surgery

2021 ◽  
pp. 014556132110498
Author(s):  
Xiaoli Qu ◽  
Yang Xiao ◽  
Lijing Ma ◽  
Jun Wang
Keyword(s):  
Vocal Cord ◽  
Disease Severity ◽  
Recurrent Respiratory Papillomatosis ◽  
Age At Diagnosis ◽  
Juvenile Onset ◽  
Vocal Cords ◽  
Younger Age ◽  
False Vocal ◽  
The Impact ◽  
First Time

Objectives The lesion distribution of juvenile-onset recurrent respiratory papillomatosis (JORRP) during first-time surgery has been rarely reported. The purpose of this study was to describe the anatomical distribution of papilloma across 25 Derkay sites during initial surgery and to assess the impact of the lesion distribution on disease severity. Methods Surgical videos and medical records of 106 patients with JORRP (27 aggressive and 79 nonaggressive cases) were retrospectively reviewed. Lesion locations were recorded using Derkay anatomical sites. Logistic regression was used to analyze the effect of the lesion distribution on disease severity. Results Among the 106 patients, the true vocal cords (90.6% left, 84.0% right) were the most frequently involved site, followed by the false vocal cords (39.6% left, 35.8% right) and the anterior commissure (26.4%). Two patients (1.9%) had tracheal involvement. Patients with false vocal cord involvement (odds ratio [OR] = 3.425, 95% confidence interval [CI] [1.285, 9.132], P = .014) and a younger age at diagnosis (OR = .698, 95% CI [.539, .905], P = .007) were more likely to require more than 4 procedures in the year following first-time surgery. Conclusions Lesions were most common on the true vocal cords. False vocal cord involvement and a younger age at diagnosis were risk factors for disease severity.

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