Short Cilia, Immunodeficiency, and Cystic Fibrosis in a Mother-Daughter Pair.

Patients with chronic rhinosinusitis (CRS) that is refractory to maximal medical and surgical therapy should be evaluated for other primary conditions. Cystic fibrosis (CF), primary immunodeficiency (PID), and primary ciliary dyskinesia (PCD) are potential risk factors for refractory CRS. These conditions present with variable disease severity and diagnosis may be delayed into adulthood. We report a case of a mother-daughter pair with CRS refractory to maximal medical management. The patients were further evaluated and found to have features consistent with CF, PID, and PCD. All 3 are rare disorders and thought to cause CRS in isolation. Patients with refractory CRS should be further evaluated to identify alternative diagnoses and ensure proper management. Refractory CRS may be multifactorial, with different risk factors simultaneously contributing to its persistence.

Comparison between upper and lower airway microbiome profiles in chronic rhinosinusitis patients.

BACKGROUND: Dysregulation of the airway microbiota is thought to contribute to airway inflammation in both chronic rhinosinusitis (CRS) and asthma. However, the relationship between the upper and lower airway microbiome remains unclear. METHODS: Sinus and lung brushes were collected from 29 CRS participants undergoing sinus surgery. DNA was extracted and submitted for 16s rRNA microbiome sequencing. Alpha and beta diversity metrics, taxonomic composition, and differences between individual taxa were compared for paired sinus and bronchial samples. RESULTS: Twenty-three out of 29 participants had sufficient samples for analysis. The mean (standard deviation) age was 51.59 (14.57) years, and 10 (44%) patients were female. Twelve (52%) patients had comorbid asthma. Sinus brushes had significantly higher alpha diversity indexes (Shannon and Faith) compared to bronchial brushes (p < 0.001). Beta diversity metrics were significantly different between the sinus and bronchial samples. Principal coordinate analysis showed no clustering of paired nasal and bronchial samples. Sinus brushes had significantly more Lawsonella, Corynebacterium, and Staphylococcus compared to bronchia brushes, while the latter were enriched in Tropheryma and Sphingomonas, among others (false discovery rate [FDR]-adjusted p < 0.01). Finally, CRS patients with comorbid asthma had significantly higher Pseudomonas and Peptoniphilus in sinus brushes and lower Prevotella in bronchial brushes when compared to non-asthmatics (FDR-adjusted p < 0.01). CONCLUSION: The sinus and bronchial bacterial microbiomes differ in important ways. Our study suggests that migration of bacteria from the sinus into the lower airways is unlikely in patients with CRS.

Syndrome of Inappropriate Antidiuretic Hormone Release Secondary to Ectopic Olfactory Neuroblastoma: Case Report and Review of Literature.

Ectopic olfactory neuroblastoma (ONB) is a rare neuroendocrine sinonasal malignancy which arises from sinonasal regions where olfactory neuroepithelium does not exist. Presentation of syndrome of inappropriate antidiuretic hormone release (SIADH) in patients with ectopic ONB is extremely rare. We report a case of a 22-year-old patient with ectopic ONB and paraneoplastic SIADH that was managed at our center. The ONB was arising from the left lamina papyracea and extending into the maxillary and ethmoid sinuses and filling the nasal cavity. Correction of sodium levels occurred within 24 hours of endoscopic resection via a combined trans-nasal transorbital approach. To avoid negative sequela secondary to rapid sodium correction, the patient was managed by desmopressin to obtain gradual sodium correction, which was achieved on the fourth postoperative day. Ectopic presentation of ONB with paraneoplastic SIADH is extremely rare with only 7 cases reported in the literature to date. Management via surgical resection and/or radiotherapy for these patients requires the managing clinician to be vigilant of serum sodium levels. A multidisciplinary approach is essential for optimal outcomes.

The Effects of Nasal Surgery on Pulmonary Function: A Systematic Review and Meta-Analysis.

OBJECTIVE: A deviated nasal septum (DNS) can result in an anatomical obstruction and impact lung function through prolonged suboptimal inspiration. Given the improvements in respiration reported by patients following septoplasty or septorhinoplasty (with or without inferior turbinate reduction), our study investigated the effect of these procedures on pulmonary function through a systematic review and meta-analysis. DATA SOURCES: Medline, Embase, Cochrane Databases, Web of Science, and Google Scholar. REVIEW METHODS: The review was registered with PROSPERO [CRD42022316309]. The study population was composed of adult patients (18-65) who were symptomatic with confirmed DNS. Extracted outcomes (pre-operative versus postoperative) included the six-minute walk test (6MWT) and pulmonary function tests (FEV1, FVC, FEV1/FVC, FEF25-75, PEF). Meta-analyses were performed using a random-effects model. RESULTS: Three studies included measures of the 6MWT in meters and all three found a statistically significant increase in the distance walked after surgery with a mean difference of 62.40 m (95% CI 24.79-100.00). Statistically significant improvements in PFT outcomes were observed with a standard mean difference of 0.72 for FEV1 (95% CI 0.31-1.13), 0.63 for FVC (95% CI 0.26-1.00), and 0.64 for PEF (95% CI 0.47-0.82). Of the twelve studies which measured PFT outcomes, six showed statistically significant improvements, three studies showed mixed results, and three studies found no difference in PFT outcomes between pre-and post-surgery testing. CONCLUSIONS: The present study suggests that pulmonary function does improve after nasal surgery for DNS, but the high heterogeneity observed in the meta-analyses indicates that the evidence supporting this conclusion is low. Laryngoscope, 133:2837-2845, 2023.

Therapeutic Effect of the Correction of Vitamin D Deficiency in Patients with Benign Paroxysmal Positional Vertigo. A Randomized Clinical Trial.

Introduction Benign paroxysmal positional vertigo (BPPV) appears during the same age group in which vitamin D and calcium deficiencies are evident. Vitamin D deficiency could predispose to BPPV, since these two entities share a demineralization process. Objective To establish the otological impact of vitamin D supplementation in patients with its deficiency who suffer from BPPV. Methods This was a randomized clinical trial. A total of 35 patients with vitamin D deficiency (< 30 ng/ml) and BPPV were divided into 2 groups: Group 1 (control group): treatment with repositioning maneuvers; and Group 2: treatment with repositioning maneuvers and vitamin D supplementation. Results A follow-up of between 6 and 13 months and a log rank test revealed that the probability of recurrence between the experimental groups was significantly different, with group 2 having a decreased recurrence of vertigo ( p = 0.17). Scores in the Dizziness Handicap inventory (DHI) in patients treated with vitamin D supplementation were smaller (10 ± 9) when compared with a score of 36 ± 9 in the control group. Conclusion Plasmatic values of 25-hydroxyvitamin D have an impact in patients with BPPV, who present an improvement in their quality of life when their vitamin D levels are replaced with supplementation. Benign paroxysmal positional vertigo could stop being perceived as a purely otologic disease.

The prevalence of CFTR mutations in patients with chronic rhinosinusitis: A systematic review and meta-analysis.

OBJECTIVES: Undetected cystic fibrosis transmembrane regulator (CFTR) mutations may predispose individuals to develop CRS independent of formal CF diagnosis. The objective of this study was to determine the prevalence of CFTR mutations among individuals with CRS. DESIGN: A systematic search following PRISMA guidelines was performed. A meta-analysis was performed to calculate pooled estimates for the prevalence of any CFTR mutation and for the DF508 mutation. SETTING AND PARTICIPANTS: The systematic search included all studies identifying adults diagnosed with CRS, with no limitation to region or publication date. Studies had to identify a sample of patients previously diagnosed with CRS but not with CF and reporting testing for the prevalence of CF or the CFTR gene mutation. MAIN OUTCOME MEASURES: Prevalence of CFTR mutations among the general CRS population, with subgroup analysis of individuals with the dF508 mutation. RESULTS AND CONCLUSIONS: The 6 included studies represented five countries: the United States, the UK, France, Poland and Finland. The pooled prevalence of CFTR mutations of any kind in CRS subjects without CF was 5.65% (RE 95% CI 2.99 - 10.41). The overall prevalence for the dF508 mutation was 4.22% (RE 95% CI 1.71 - 10.07). These estimates were significantly higher than the baseline estimated prevalence of CFTR carrier status of 3%-4% in the general population. However, the clinical relevance of the presence of CFTR mutations in CRS patients who have not been diagnosed with CF is currently unclear. Future studies should include sweat chloride testing as a measure of CFTR function.

Comparative study between the caloric vestibular and the video-head impulse tests in unilateral Menière's disease.

OBJECTIVE: Compare the caloric vestibular test (CVT) and the video head impulse test (vHIT) in the evaluation of Meniere's disease (MD) and to analyze their diagnostic accuracy. MATERIALS AND METHODS: Retrospective review of CVT and vHIT performed in MD patients at a tertiary care referral center in Spain. RESULTS: A total of 88 patients were reviewed. The CVT was abnormal in 67% (n = 59) of patients, while the vHIT was abnormal in 66% (n = 58) of them. Agreement between both tests was poor, regardless of whether the horizontal semicircular canal (SCC) or all SCC were analyzed (kappa = .21). Anterior SCC pathology was found in 30% (n = 27) of the subjects while 51% (n = 45) had altered gains in the posterior SCC. CONCLUSIONS: Our study shows that patients with MD can have functional deficit involving the vertical semicircular canals, which cannot be detected by the CVT alone. Therefore, both tests should be used in a complementary fashion.

[Purple urine bag syndrome: An uncommon manifestation of urinary tract infection]. / Síndrome de la bolsa de orina morada (SBOM): una manifestación infrecuente de infección de vías urinarias (IVU).

CASE REPORT: A 57-year-old paraplegic male diagnosed with non-Hodgkin's lymphoma and complete spinal cord compression arrived at our clinic because of fever and purple discoloration of the urine. We diagnosed purple urine bag syndrome (PUBS) and treated him with oral ciprofloxacin and urinary catheter replacement. DISCUSSION: PUBS is an unusual phenomenon that occurs predominantly in bedridden patients with long-term urinary catheters, presenting as a purple discoloration of the urine bag. Its pathogenesis involves the metabolism of indoxyl sulfate by sulfatase-producing bacteria. Knowledge of this entity is important in order to avoid unnecessary diagnostic workup and treatment.

Microbiology of surgical site infections in patients with cancer: A 7-year review.

BACKGROUND: Health care-associated infections (HAIs) have arisen as major sources of multidrug-resistant bacteria. Surgical site infections (SSIs) are the most frequent HAIs in many countries, with high antimicrobial-resistant prevalence. METHODS: A 7-year retrospective review (2008-2014) of microbiologic data within a prospective surveillance program on patients with SSI at a cancer hospital in Mexico. RESULTS: There were 23,421 surgeries performed during the study period. The SSI rate was 7.9%. Gram-negative bacilli (GNB) were found in 56.5% of samples. Escherichia coli was the most frequent microorganism (27.5%), followed by Staphylococcus aureus (16.3%). SSI caused by S aureus showed a decreasing trend (P = .04). Extended-spectrum ß-lactamase (ESBL)-producing E coli increased from 39.5% in 2008 to 72.5% in 2014 (P < .001). Fluoroquinolone resistance also increased in all members of the Enterobacteriaceae. Methicillin-resistant S aureus (MRSA) was isolated in 32% of cases with no significant increase (P value is not significant). CONCLUSIONS: GNB caused most SSIs, with an increase of ESBL E coli strains. In breast and thoracic surgery, S aureus remained the most frequent isolate. MRSA remained stable throughout the study period. We observed a decreasing trend in S aureus. These findings show the differences in the microbiology of SSIs in a middle-income country and the increasing trend of ESBL enterobacteria and other multidrug-resistant organisms, such as Enterococcus faecium.

The synthetic parasite-derived peptide GK1 increases survival in a preclinical mouse melanoma model.

PURPOSE: The therapeutic efficacy of a synthetic parasite-derived peptide GK1, an immune response booster, was evaluated in a mouse melanoma model. This melanoma model correlates with human stage IIb melanoma, which is treated with wide surgical excision; a parallel study employing a surgical treatment was carried out as an instructive goal. EXPERIMENTAL DESIGN: C57BL/6 mice were injected subcutaneously in the flank with 2×10(5) B16-F10 murine melanoma cells. When the tumors reached 20 mm3, mice were separated into two different groups; the GK1 group, treated weekly with peritumoral injections of GK1 (10 µg/100 µL of sterile saline solution) and the control group, treated weekly with an antiseptic peritumoral injection of 100 µL of sterile saline solution without further intervention. All mice were monitored daily for clinical appearance, tumor size, and survival. Surgical treatment was performed in parallel when the tumor size was 20 mm3 (group A), 500 mm3 (group B), and >500 mm3 (group C). RESULTS: The GK1 peptide effectively increased the mean survival time by 9.05 days, corresponding to an increase of 42.58%, and significantly delayed tumor growth from day 3 to 12 of treatment. In addition, tumor necrosis was significantly increased (p<0.05) in the treated mice. The overall survival rates obtained with surgical treatment at 6 months were 83.33% for group A, 40% for group B, and 0% for group C, with significant differences (p<0.05) among the groups. CONCLUSIONS: The GK1 peptide demonstrated therapeutic properties in a mouse melanoma model, as treatment resulted in a significant increase in the mean survival time of the treated animals (42.58%). The potential for GK1 to be used as a primary or adjuvant component of chemotherapeutic cocktails for the treatment of experimental and human cancers remains to be determined, and surgical removal remains a challenge for any new experimental treatment of melanoma in mouse models.