Therapeutic advances in allergy and rhinology最新文献

Background: Endoscopic sinus surgery (ESS) has become the gold standard for treating patients with chronic rhinosinusitis (CRS) refractory to medical therapy. It is considered a relatively safe and effective procedure in all age groups, with overall success rates ranging from 76% to 97.5%. However, failure of primary endoscopic sinus surgery (PESS) occurs at a rate ranging from 2% to 24%. Patients who are still symptomatic after PESS and optimal medical therapy are candidates for revision endoscopic sinus surgery (RESS).

Objectives: to study the outcomes of ESS and assess the risk factors of recurrence of nasal polyps, as well as to compare the outcomes of PESS and RESS at a tertiary care teaching hospital.

Design: A retrospective cross-sectional study.

Methods: This study is conducted on patients with CRS with nasal polyps (CRSwNP) who underwent ESS at King Saud University Medical City (KSUMC) between May 2015 and December 2021. During this period, ESS was performed 470 times for CRSwNP. The Sinonasal Outcome Test 22 (SNOT-22) questionnaire, the Lund-Kennedy (LK) score, the Lund-MacKay (LM) score, and the polyp grading system were used to evaluate subjective and objective outcomes. They were scored preoperatively and from 6 to 12 months postoperatively.

Results: Out of the 470 endoscopic sinus surgeries, 321 (68.3%) were PESS and 149 (31.7%) were RESS. Asthma, aspirin sensitivity, and Samter's triad were observed more in the RESS group. The LK and LM scores were significantly different between primary and revision sinus surgeries, revealing that PESS patients had better postoperative LK and LM scores. The RESS patients had significantly worse postoperative SNOT-22 scores compared to PESS patients.

Conclusion: Lund-MacKay, Lund-Kennedy, and SNOT-22 scores improved after ESS for both primary and revision ESS patients, with better outcomes observed after PESS compared to RESS. The presence of asthma, aspirin sensitivity, Samter's Triad, high-grade nasal polyps, and older age were identified as risk factors for CRSwNP recurrence, which may require RESS.

Allergic fungal rhinosinusitis (AFRS) is a subtype of chronic noninvasive sinusitis accounting for 7.8% (0.2%-26.7%) of all chronic rhinosinusitis cases. A definitive diagnosis is usually made after sinus surgery. Successful treatment requires a combination of surgical and medical management. Although orbital involvement is relatively common, reports on optic neuropathy and acute vision loss are limited. Herein, we present a series of 3 patients with AFRS who presented with acute visual loss as the chief complaint. All 3 patients were otherwise healthy adults in their early 20s with extensive nasal polyps on endoscopic nasal examination and bone erosion in the bilateral orbits and lateral wall of the sphenoid sinus on the affected side on imaging. One of the 3 patients had bilateral cranial nerve IV defects in addition to cranial nerve III defects. All patients underwent endoscopic sinus surgery with orbital decompression and were followed up postoperatively by both otolaryngology and ophthalmology services with endoscopic and radiologic evaluation. Unfortunately, no meaningful improvement in vision was observed in any patient despite successful nerve decompression. Prompt diagnosis and early medical and surgical intervention are warranted to prevent complications in patients with AFRS with orbital extension.

Background: Central compartment atopic disease (CCAD) is a recent, novel phenotype of chronic rhinosinusitis. Only a few studies have assessed olfactory function in patients with CCAD.

Objectives: We aimed to investigate olfactory function changes after functional endoscopic sinus surgery (FESS) in patients with CCAD and proposed some surgical techniques to enhance the postoperative olfactory outcomes in such patients.

Design: A retrospective cohort study.

Methods: We collected data from 23 patients (8 men and 15 women) with CCAD who underwent FESS performed by a surgeon in Taiwan, between June 2018 and December 2021. The demographic data, olfactory function, and serum and tissue eosinophil percentages of the included patients were analyzed. The Top International Biotech Smell Identification Test (TIBSIT; Top International Biotech, Taipei, Taiwan) was used to assess olfactory function.

Results: Of the 23 patients, most (95%) showed a positive reaction to aeroallergens, and 2 patients (8.7%) had asthma. Ten patients (43.5%) had peripheral eosinophilia, and 9 (39%) had eosinophilic nasal polyps. Moreover, the patients presented with variable olfactory dysfunction; the mean preoperative TIBSIT (pr-TIBSIT) score was 12.8 ± 2.3 (range: 0-43), whereas the mean postoperative TIBSIT (po-TIBSIT) score was 29.2 ± 1.9 (range: 16-44). The po-TIBSIT score was significantly better than the pre-TIBSIT score (paired t test, P < .0001). The improvement in olfactory function was not significantly correlated with the patients' age, serum eosinophil percentages, and nasal polyp eosinophil counts.

Conclusion: Our findings indicate that CCAD is significantly associated with olfactory dysfunction and that FESS can effectively improve olfactory function. To optimize postoperative olfactory outcomes, precise removal of polyps from the olfactory cleft without damaging the neuroepithelium is recommended. Our study provides valuable insights into the management of CCAD patients undergoing FESS and can guide surgical decision-making to achieve optimal olfactory function outcomes.

Background: Despite epinephrine's historical use for over a century and Food and Drug Administration (FDA) approval for EpiPen's use in 1987 to treat anaphylaxis, little information exists regarding selection of the 0.3 mg adult dose. A review of literature was conducted to provide a historical retrospective regarding the evolution of the dosage selected for today's EpiPen. The first adrenal gland extract, isolation of the epinephrine active ingredient, observation of physiological effect, selection of the intramuscular route for administration, the dosage range recommended by independent physicians based on their clinical observations and selection of the ultimate standardized dosage are profiled.

Conclusion: This retrospective review illustrates the drug development process prior to the rigors required for today's clinical trials and provides clinical evidence supporting the dose in EpiPen and other similar life-saving epinephrine products.

Background: Allergic rhinitis (AR) is the most common inflammatory disorder of the upper airway caused by aberrant immune responses to allergens in genetically predisposed individuals. Recently, the long noncoding RNA (lncRNA) antisense noncoding RNA in the INK4 locus (ANRIL) has been identified as a novel genetic factor associated with increased AR risk.

Objectives: This study aimed to evaluate the potential correlation of ANRIL gene single nucleotide polymorphisms (SNPs) with AR risk in the Kurdish population of Kermanshah, Iran.

Methods: In this case-control study, 130 AR patients and 130 healthy controls were recruited to genotype for two SNPs of the ANRIL gene (rs1333048 and rs10757278) using the Tetra-primer amplification refractory mutation system polymerase chain reaction (T-ARMS-PCR) method.

Results: Our results showed no significant difference for the alleles and genotypes frequency distribution of lncRNA ANRIL SNPs (rs1333048 and rs10757278) between AR patients and healthy controls (p > 0.05). Additionally, the dominant, additive and recessive genetic models of both SNPs were not associated with altered susceptibility to AR risk (p > 0.05).

Conclusion: The results demonstrated that the ANRIL gene rs1333048 and rs10757278 polymorphisms might not be associated with susceptibility to AR in the Kurdish population of Kermanshah, Iran.

Background: Selective anti-polysaccharide antibody deficiency (SPAD) with CD5 B-cell predominance and autoimmune phenomena was identified in a male cohort first reported by Antall et al in 1999. The phenotypically likewise and genotypically identical X-linked immunodeficiency with magnesium defect, Epstein-Barr Virus infection, and neoplasia (XMEN) disease was defined as a novel primary immunodeficiency (PID) in 2011. Recent studies of the magnesium transporter 1 (MAGT1) gene mutation reveal glycosylation defects contributing to more phenotypic variance than the "XMEN" title pathologies. The updated title, "X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect," was proposed in 2020.

Objectives: To reflect the patient population more accurately, a prospective classification update may consider MAGT1 glycobiological errors contributing to phenotypic variance but also pre-genetic testing era reports with CD5 B-cell predominance.

Methods: Patient 1 from Antall et al presented at 28 years of age for further immunological evaluation of his CD5/CD19 B-cell predominance diagnosed at 5 years old.

Design: Immune re-evaluation done through flow cytometry and next-generation sequencing.

Results: Flow cytometry B-cell phenotyping revealed persistent CD5+CD19+ (93%). Flow cytometric histogram quantified reduced activator CD16+CD56+ natural killer and CD8+ T-cell receptor, Group 2, Member D (NKG2D) glycoprotein expression. A c.923-1_934 deletion loss of function mutation was identified in the MAGT1 gene.

Conclusion: We suggest the novel PID XMEN, based on its CD5 B-cell predominance, had been discovered and reported over a decade earlier as CD5+ PID based on the MAGT1 mutation found in the same. We encourage consideration of combining these labels and recent findings to offer the most accurate classification of this disease.

Vaccinations for pathogenic organisms have been utilized for decades in both the protection and diagnosis of immunodeficiency patients. Some of these immunodeficient patients may not create an adequate response to vaccination, although some who have significant aberrancies in their immune system may surprisingly create antibodies to immunizations. We present a patient with a large Ig heavy chain deletion (severe deficiency of serum IgG1, IgG2, IgG4, and IgA1) that showed a considerable response (presumably through IgG3) after the Pfizer BioNTech COVID-19 vaccination. This finding in this unique immunodeficient patient warrants further research into alternate antibody response pathways against COVID-19.

Visual loss is a rare manifestation of allergic fungal rhinosinusitis (AFRS). We report a case of an adult male who was diagnosed with AFRS and who presented during the COVID-19 pandemic lockdown with sudden-onset complete vision loss and a lack of recovery after surgical and medical management. We reviewed the literature on reported cases of AFRS complicated by visual loss to identify factors associated with visual outcomes. We found 50 patients who were diagnosed with acute visual loss due to AFRS, with an average age of 28 ± 14 years. Complete and partial recovery after surgical intervention were reported in 17 and 10 cases, respectively. However, the absence of vision improvement was reported in 14 of the cases. Early diagnosis and prompt intervention can return vision back to normal. However, delayed presentation, complete loss of vision, and acute onset of visual loss are associated with worse outcomes.

IgM deficiency is characterized by remarkably low serum levels of IgM with normal IgG and IgA levels. These patients clinically present with recurrent infections, autoimmune disorders, and malignancies. While unknown, the proposed mechanisms explain the pathophysiology as an issue due to impaired IgG antibody response. The connexin genes encode for gap junctional proteins where mutations can cause hearing deficits and immune dysregulation. We present a unique case of an 18-year-old patient with recurrent sinusitis, diagnosed connexin-26 mutation and an IgM deficiency. An 18-year-old male with chronic sinusitis, Marfanoid joint hypermobility syndrome, and sensorineural hearing loss due to connexin-26 deficiency with bilateral cochlear implants. This patient's mutation is a GJB2 deletion located on chromosome 13 which encodes for the connexin-26 protein. The patient experienced recurrent infections, and serum immunoglobulins showed a normal IgA (84 mg/dL; normal: 70-400 mg/dL), IgG (922 mg/dL; normal: 700-1600 mg/dL) and reduced IgM (26 mg/dL; normal: 40-230 mg/dL) levels. The patient was responsive to Mumps, Measles, Rubella, and Diphtheria vaccinations among others, consistent with SIGMD diagnoses. Antibody responses to polysaccharide antigens were absent. The leukocyte counts were within normal limits. His parents are connexin-26 deficient carriers, and his older brother was diagnosed with SIGMD. Connexin-26 has been identified with multiple immunological mechanisms. Although mutations of this gene have no direct tie to antibody formation in relation to IgM, the presence of these 2 pathologies in 1 patient is intriguing and may suggest a pathophysiologic connection. We describe the first case of connexin mutation with an IgM deficiency in an 18-year-old male.

Background: Since the coronavirus pandemic in 2020, there is not much reported about the disease course of COVID-19 in patients with allergic diseases.

Objectives: The aim of this study was to investigate the cumulative incidence and severity of COVID-19 among patients from the allergy department compared with the general Dutch population and people from their household.

Design: We conducted a comparative longitudinal cohort study.

Methods: In this study patients of the allergy department were included with their household members as a control group. Data from the beginning of the pandemic were systematically obtained through questionnaires by telephonic interviews and retrieved from electronic patient files between October 15, 2020 and January 29, 2021. Main outcomes were confirmed SARS-CoV-2 infection, disease duration, hospitalization, intensive care admission, and mortality. Questions regarding applied social distancing measures were inventoried as well.

Results: Three hundred and eighty nine patients (median age 39.1 (18.7-84.7) years, 69.9% female) and 441 household members (median age 42.0 (18.0-91.5), 44.1% female) were included. The cumulative COVID-19 incidence in patients was higher compared with the general population (10.5% vs 5.6%, P < .001). In total, 41 (10.5%) patients attending the allergy clinic compared to 38 (8.6%) household members were infected with SARS-CoV-2 (P = .407). Median disease duration was 11.0 (0.0-61.0) days in patients compared to 10.5(1.0-232.0) days in household members (P = .996).

Conclusion: The cumulative COVID-19 incidence in patients from the allergy cohort was higher compared with the general Dutch population, but similar compared with household members. There was no difference in symptoms, disease duration, or hospitalization rate between the allergy cohort and their household members.