BackgroundThe lactase persistent (LP) or lactase non-persistent (LNP) state in European adults is genetically determined by a single nucleotide polymorphism (SNP) located 13.9 kb upstream of the lactase (LCT) gene, known as LCT C>T−13910 (rs4988235). The LNP condition leads to an inability to digest the milk sugar lactose leading to gastrointestinal symptoms and can affect nutrient and calcium intake in certain populations.ObjectivesThe authors studied a group of 51 Chilean patients to assess whether this SNP influences the LP/LNP state in this population, and determined the prevalence of LCT C>T−13910 genotypes in a representative sample of 216 Hispanics and 43 Amerindians with correlation to digestive symptoms.DesignCase–control study done in Chilean patients with clinical suspicion of LNP that were assessed using clinical survey, hydrogen breath test (HBT) and SNP genotyping. The population sample of Hispanics and Amerindians was assessed by clinical survey and SNP genotyping.ResultsOf the 51 patients with clinical suspicion of LNP, 29 were HBT-positive. The CC genotype (LNP) was present in 89.7% of the patients with positive HBT and in only 4.7% of those with negative HBT. The prevalence of the CC genotype was 56.9% in the Hispanic population and 88.3% in Amerindians, and was associated with a higher self-reported clinical intolerance to ingestion of dairy products.ConclusionThe LP/LNP state is determined by the LCT C>T−13910 variant in Chileans. This variant predicts digestive symptoms associated with the ingestion of lactose and is a good tool for the diagnosis of primary adult hypolactasia. The LCT T−13910 allele is rare in the Amerindian population and is suggestive of European ancestry in this contemporary population.

The purpose of this study was to analyze the levels of white blood cells and profile of proinflammatory Th1, Th2, Th17, and T regulatory tissue cytokines in the tonsils of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) patients to contribute to the pathophysiological understanding of the PFAPA syndrome. A cohort of PFAPA patients who had tonsillectomy during 2010 and 2011 was included and compared to control patients who had tonsillectomy for tonsillar hypertrophy. White blood cell counts were measured during flares in PFAPA patients and before tonsillectomy in the control group. Cytokine gene expression was analyzed in removed tonsils by real-time PCR. Nine PFAPA patients with a median age of 5.3 years (1.7-8 years) and 17 hypertrophic tonsils of patients with a median age of 4.8 years (2.3-8.4 years) participated in this study. Tonsillectomy was performed during afebrile period between PFAPA flares. Three of the nine patients had recurrent episodes of aphthous stomatitis without fever after tonsillectomy. Leukocyte and neutrophil counts were higher in PFAPA patients compared to controls (p < 0.05). Eosinophil counts were lower in PFAPA patients during flares (p = 0.006). IL-1β, TNF-α, TGF-β, IL-17, and IFN-γ levels were similar in the tonsils of patients and controls. IL-4 gene expression in the tonsils was lower in PFAPA patients compared to those of the controls (p = 0.04). Proinflammatory, effector, and regulatory cytokine gene expression in tonsil tissue of PFAPA children removed in a noninflammatory asymptomatic interval and in control patients were similar. However, IL-4 cytokine gene expression in the tonsils and peripheral blood eosinophils were lower in the PFAPA patients suggesting a potential pathogenesis pathway based on an inhibition of Th2 responses.

Culture-directed therapy improves long-term endoscopy scores but does not yield an advantage in improving short-term endoscopy scores, nor in improving short-term and long-term quality of life scores in CRS patients. A prospective study is necessary to examine the relevance of routine microbiologic cultures in CRS patients.

Background Transcutaneous electrical nerve stimulation has proven to be effective in alleviating chronic pain from facial myalgias. We evaluated the efficacy of a novel handheld microcurrent‐emitting device in short‐term, office‐based treatment of patients with sinus pain. This device, which is U.S. Food and Drug Administration (FDA)‐cleared, detects and treats regions corresponding to nerve fibers. Methods Randomized, double‐blinded, placebo‐controlled trial. Seventy‐one participants with facial pain attributed to self‐reported nasal/sinus disease were recruited from a tertiary rhinologic practice and the surrounding community and randomly assigned to either office‐based use of an active (n = 38) or placebo (n = 33) microcurrent emitter. The study device was repetitively applied by each patient to the bilateral periorbital areas for 5 minutes. A visual analogue scale (VAS) for pain severity was administered before, and 10 minutes after, treatment. Results Active microcurrent‐treated patients had a reduction in mean pain score from 5.63 pretreatment to 3.97 posttreatment (mean difference, 1.66; 95% confidence interval [CI], 1.20 to 2.12). Patients using the sham device also reported sinus pain reductions (mean difference, 0.91; 95% CI, 0.61 to 1.21). However, the active device demonstrated a significantly greater reduction in pain compared to sham (0.75‐point difference, p = 0.007). Notably, 23.7% of patients using the active device had a reduction of 3 or more points by VAS compared to 0% of sham device patients ( p = 0.003). One minor occurrence of transient facial skin erythema was noted. Conclusion This trial suggests that treatment of rhinologic facial pain using this noninvasive microcurrent device is safe and effective in providing rapid relief of nasal/sinus pain. Additional studies with longer term follow‐up are warranted.