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Nature Communications Jan 2023Inflammatory and infectious upper respiratory diseases (ICD-10: J30-J39), such as diseases of the sinonasal tract, pharynx and larynx, are growing health problems yet...
Inflammatory and infectious upper respiratory diseases (ICD-10: J30-J39), such as diseases of the sinonasal tract, pharynx and larynx, are growing health problems yet their genomic similarity is not known. We analyze genome-wide association to eight upper respiratory diseases (61,195 cases) among 260,405 FinnGen participants, meta-analyzing diseases in four groups based on an underlying genetic correlation structure. Aiming to understand which genetic loci contribute to susceptibility to upper respiratory diseases in general and its subtypes, we detect 41 independent genome-wide significant loci, distinguishing impact on sinonasal or pharyngeal diseases, or both. Fine-mapping implicated non-synonymous variants in nine genes, including three linked to immune-related diseases. Phenome-wide analysis implicated asthma and atopic dermatitis at sinonasal disease loci, and inflammatory bowel diseases and other immune-mediated disorders at pharyngeal disease loci. Upper respiratory diseases also genetically correlated with autoimmune diseases such as rheumatoid arthritis, autoimmune hypothyroidism, and psoriasis. Finally, we associated separate gene pathways in sinonasal and pharyngeal diseases that both contribute to type 2 immunological reaction. We show shared heritability among upper respiratory diseases that extends to several immune-mediated diseases with diverse mechanisms, such as type 2 high inflammation.
Topics: Humans; Genome-Wide Association Study; Genetic Predisposition to Disease; Genetic Loci; Inflammation; Asthma; Respiration Disorders; Genomics; Pharyngeal Diseases; Polymorphism, Single Nucleotide
PubMed: 36653354
DOI: 10.1038/s41467-022-33626-w -
European Annals of Otorhinolaryngology,... May 2010Hypopharyngeal amyloidosis is rare. Management depends on etiology. We report a case of hypopharyngeal amyloidosis and review the characteristics of this exceptional... (Review)
Review
Hypopharyngeal amyloidosis is rare. Management depends on etiology. We report a case of hypopharyngeal amyloidosis and review the characteristics of this exceptional pathology. A 60-year-old woman with a history of diabetes and chronic cervicalgia consulted for dysphagia and deteriorated general health status, which had been evolving for 2 months. Clinical examination found two ulcerations of the lateral edge of the tongue and right pyriform sinus salivary stasis. Panendoscopy found regular swelling of the posterior wall of the hypopharynx and cervical esophagus. The pyriform sinuses and larynx were normal. Cervical CT and MRI showed thickening of the posterior wall of the hypopharynx. Biopsy found amorphous acellular eosinophil interstitial deposits, shown to be amyloid on Congo red staining, leading to a diagnosis of amyloidosis. Etiological assessment pointed to myeloma. The patient was managed by chemotherapy associating melphalan and prednisone. Evolution at 12 months' follow-up was good. Localized amyloidosis is a rare lesion of the superior aerodigestive tract, predominating in the larynx. Hypopharyngeal involvement is exceptional. Diagnosis is histological. Management depends on etiology. Local treatment is exceptional other than in case of complication. Systemic forms with associated myeloma are of poor prognosis.
Topics: Amyloidosis; Female; Humans; Hypopharynx; Middle Aged; Pharyngeal Diseases
PubMed: 20822762
DOI: 10.1016/j.anorl.2010.02.012 -
Anaesthesia Oct 2013
Topics: Airway Management; Algorithms; Emergency Medical Services; Humans; Intubation, Intratracheal; Laryngoscopy; Male; Middle Aged; Pharyngeal Diseases; Tracheostomy; Ultrasonography, Interventional
PubMed: 24047297
DOI: 10.1111/anae.12430 -
Yonsei Medical Journal Dec 1993Three patients had cervical draining sinus communicating with the pyriform sinus and one patient had acute suppurative thyroiditis resulting from infection through the...
Three patients had cervical draining sinus communicating with the pyriform sinus and one patient had acute suppurative thyroiditis resulting from infection through the pyriform sinus. There was a moderate to severe perithyroidal inflammation in all 4 cases. The age of onset ranged from 7 to 18 years old (mean; 12) but that of confirmation 9, 15, 18 and 67 years of age. Three of the patients were male and 3 of the cases involved the left side. All patients had suffered from several recurrences of cervical abscess, ranged from 2 to 7 times (mean; 4). Characteristic clinical features included 1) onset at a young age 2) frequent recurrence unless the fistula was extirpated completely 3) presenting with cervical draining sinus after repeated incision and drainage. It is supposed that the fistula is a route of infection mainly in the perithyroidal space and subsequently into the thyroid gland. When the fistula communicates directly with the thyroid gland, it can cause primary acute suppurative thyroiditis. Chronic cervical draining sinus with histories of repeated incision and drainage may be the clue to the diagnosis. A barium paste swallow study is the radiologic procedure of choice and complete removal of the fistula is the treatment of choice.
Topics: Adult; Aged; Child; Female; Fistula; Humans; Male; Neck Muscles; Pharyngeal Diseases; Radionuclide Imaging; Thyroid Diseases; Tomography, X-Ray Computed
PubMed: 8128744
DOI: 10.3349/ymj.1993.34.4.386 -
BMC Infectious Diseases Mar 2021Cytomegalovirus (CMV) is an important pathogen among immunocompromised hosts. Typically, CMV in human immunodeficiency virus (HIV) infection causes diseases of the... (Review)
Review
BACKGROUND
Cytomegalovirus (CMV) is an important pathogen among immunocompromised hosts. Typically, CMV in human immunodeficiency virus (HIV) infection causes diseases of the retina, digestive tract, lungs and liver, but there are few cases of CMV infection of the pharynx and larynx.
CASE PRESENTATION
A 57-year-old man with HIV infection was admitted because of pharyngeal pain. Before and after admission, pharyngeal biopsies guided by laryngeal endoscopy were performed four times, but pathological examination showed nonspecific inflammation, and the cause of pharyngeal ulceration was unclear. Additionally, the ulceration deteriorated after initiation of retroviral therapy. Laryngomicrosurgery was conducted under general anesthesia to remove tissue, and pathological diagnosis confirmed CMV infection. Pathological features included enlargement of the cytoplasm and nucleus in infected cells, and intranuclear bodies called owl's eye inclusions. Ganciclovir dramatically improved the symptoms and laryngoscopic findings.
CONCLUSIONS
This case was diagnosed as pharyngitis and pharyngeal ulceration caused by CMV infection, related to immune reconstitution inflammatory syndrome. In previous reports of CMV-induced pharyngeal or laryngeal ulceration in HIV infection, we found six cases similar to our present case. All cases were diagnosed by biopsy. The present case indicates the importance of biopsy for definitive diagnosis. CMV infection should be considered as a differential diagnosis of pharyngeal ulceration in patients with HIV infection.
Topics: Cytomegalovirus; Cytomegalovirus Infections; Ganciclovir; HIV Infections; Humans; Immunocompromised Host; Male; Middle Aged; Pharyngeal Diseases; Ulcer
PubMed: 33691621
DOI: 10.1186/s12879-021-05943-w -
Head and Neck Pathology Jun 2016Focal dermal hypoplasia (Goltz syndrome; GS) is an X-linked dominant disorder caused by a mutation in the porcupine homolog (PORCN) gene and is typically embryonically... (Review)
Review
Focal dermal hypoplasia (Goltz syndrome; GS) is an X-linked dominant disorder caused by a mutation in the porcupine homolog (PORCN) gene and is typically embryonically lethal for males. The presence of disease in males is usually the result of post-zygotic mutation, but may also be due to mosaicism. The presentation of this disorder is highly variable, but generally is characterized by cutaneous, skeletal, ocular, oral, dental, and aural defects. Cutaneous manifestations include foci of hypoplastic skin, abnormal pigmentation, and papillomatous growths. We present both the first case of a patient with GS related laryngeal obstruction due to papillary lymphoid hyperplasia in an adult, and the first case in a male patient. Clinical, histologic, and genetic features of the disease are discussed. Operative technique for management of the patient with pharyngeal lesions is detailed, and intraoperative photos are showcased. The challenge in airway evaluation and management is also highlighted as manifestations of GS are rarely encountered in the airway and can cause laryngeal obstruction.
Topics: Adult; Focal Dermal Hypoplasia; Humans; Male; Pharyngeal Diseases
PubMed: 26577212
DOI: 10.1007/s12105-015-0667-4 -
European Respiratory Review : An... Dec 2018Ear, nose and throat (ENT) comorbidities are common in patients with asthma and are frequently associated with poorer asthma outcomes. All these comorbidities are... (Review)
Review
Ear, nose and throat (ENT) comorbidities are common in patients with asthma and are frequently associated with poorer asthma outcomes. All these comorbidities are "treatable traits" in asthma. Identification and management of these disorders may spare medication usage and contribute to improved asthma control and quality of life, and a decrease in exacerbation rates.This review summarises recent data about the prevalence, clinical impact and treatment effects of ENT comorbidities in asthma including allergic rhinitis, chronic rhinosinusitis with and without nasal polyposis, aspirin-exacerbated respiratory disease, obstructive sleep apnoea and vocal cord dysfunction.Many of these comorbidities are possible to be managed by the pulmonologist, but the collaboration with the ENT specialist is essential for patients with chronic rhinosinusitis or vocal cord dysfunction. Further rigorous research is needed to study the efficacy of comorbidity treatment to improve asthma outcomes, in particular with the development of biotherapies in severe asthma that can also be beneficial in some ENT diseases.
Topics: Anti-Asthmatic Agents; Asthma; Comorbidity; Disease Progression; Ear Diseases; Health Status; Humans; Lung; Nose Diseases; Pharyngeal Diseases; Quality of Life; Remission Induction; Risk Factors; Treatment Outcome
PubMed: 30463872
DOI: 10.1183/16000617.0056-2018 -
The Laryngoscope Aug 2014Pharyngocutaneous fistulae (PCF) are known to occur in nearly one-third of patients after salvage total laryngectomy (STL). PCF has severe impact on duration of... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES/HYPOTHESIS
Pharyngocutaneous fistulae (PCF) are known to occur in nearly one-third of patients after salvage total laryngectomy (STL). PCF has severe impact on duration of admission and costs and quality of life and can even cause severe complications such as bleeding, infection and death. Many patients need further surgical procedures. The implications for functional outcome and survival are less clear. Several studies have shown that using vascularized tissue from outside the radiation field reduces the risk of PCFs following STL. This review and meta-analysis aims to identify the evidence base to support this hypothesis.
DATA SOURCES
English language literature from 2004 to 2013 REVIEW METHODS: We searched the English language literature for articles published on the subject from 2004 to 2013.
RESULTS
Adequate data was available to identify pooled incidence rates from seven articles. The pooled relative risk derived from 591 patients was 0.63 (95% CI: 0.47 to 0.85), indicating that patients who have flap reconstruction/reinforcement reduced their risk of PCF by one-third.
CONCLUSION
This pooled analysis suggests that there is a clear advantage in using vascularized tissue from outside the radiation field in the laryngectomy defect. While some studies show a clear reduction in PCF rates, others suggest that the fistulae that occur are smaller and rarely need repair.
Topics: Cutaneous Fistula; Fistula; Humans; Laryngectomy; Pharyngeal Diseases; Salvage Therapy; Surgical Flaps
PubMed: 24474684
DOI: 10.1002/lary.24619 -
Ear, Nose, & Throat Journal Jan 2022Pneumatic compression garment therapy (PCGT) has been established as treatment for postradiotherapy lymphedema, and its use in head and neck patients is becoming more...
OBJECTIVES
Pneumatic compression garment therapy (PCGT) has been established as treatment for postradiotherapy lymphedema, and its use in head and neck patients is becoming more common. Although effects on interstitial edema of the cervical soft tissues have been studied, effects on internal laryngopharyngeal edema, as well as associated symptoms of dysphagia and dysphonia, have yet to be published.
METHODS
We surveyed 7 patients treated with radiation for head and neck cancer (HNC) who had also been prescribed PCGT for cervical lymphedema. Patients were asked about subjective experience with the device, and also administered the Eating Assessment Tool-10 (EAT-10) and Voice Handicap Index-10 (VHI-10) surveys regarding their symptoms after using PCGT. Laryngoscopy videos from these same periods were also reviewed and scored using a validated tool for assessing laryngopharyngeal edema.
RESULTS
85% of patients reported at least some improvement in dysphagia and dysphonia following PCGT. Average EAT-10 score after PCGT was 11.4 and average VHI-10 score after PCGT was 8.7. These compare more favorably to historical scores for the same questionnaires in similar patient populations. Laryngeal edema scores on endoscopic examination were not significantly different after at least 3 months of therapy (pre: 20.15, post: 20.21, = .975); however, the utility of this result is limited by a low inter-rater reliability (Krippendorff α = .513).
CONCLUSIONS
While we are unable to show any difference in objective assessment of laryngopharyngeal edema on endoscopic examination in this small pilot study, patients report substantial subjective improvement in postradiotherapy dysphagia and dysphonia following cervical PCGT that warrants more formal investigation.
Topics: Deglutition Disorders; Dysphonia; Gravity Suits; Head and Neck Neoplasms; Humans; Hypopharynx; Laryngeal Edema; Patient Reported Outcome Measures; Pharyngeal Diseases; Pilot Projects; Radiotherapy
PubMed: 32687411
DOI: 10.1177/0145561320942362 -
BMJ Case Reports Sep 2019Tularaemia is a rare infectious disease endemic in most European countries caused by the bacterium Patients often show acute non-specific symptoms, which causes a...
Tularaemia is a rare infectious disease endemic in most European countries caused by the bacterium Patients often show acute non-specific symptoms, which causes a delay in diagnosis and proper treatment, potentially resulting in significant morbidities such as deep neck abscess, meningitis, endocarditis and septic shock. The authors present a case of a 5-year old boy with a 4-day history of fever, sore throat and painful cervical lymphadenopathy, whose clinical progression worsened despite being treated with recommended antibiotics as per WHO guidelines once the diagnosis of Tularaemia was confirmed by serologic tests. He developed a parapharyngeal abscess and a persistent left necrotic cervical lymph node, which both were surgically drained and excised, respectively, and an extended course of antibiotic was given. Subsequently, the patient fully recovered from the illness and the follow-up was negative for relapse.
Topics: Abscess; Anti-Bacterial Agents; Child, Preschool; Drainage; Fever; Francisella tularensis; Gentamicins; Humans; Lymph Nodes; Lymphadenitis; Male; Pharyngeal Diseases; Pharyngitis; Treatment Outcome; Tularemia
PubMed: 31494583
DOI: 10.1136/bcr-2019-229754