ABSTRACT
BACKGROUND: Despite numerous studies, the true scenario of hearing loss in beta-thalassaemia remains rather nebulous. MATERIALS AND METHODS: Pure tone audiometry, chelation therapy, demographics and laboratory data of 376 patients (mean age 38.5 ± 16.6 years, 204 females, 66 non-transfusion-dependent) and 139 healthy controls (mean age 37.6 ± 17.7 years, 81 females) were collected. RESULTS: Patient and control groups did not differ for age (p = 0.59) or sex (p = 0.44). Hypoacusis rate was higher in patients (26.6% vs. 7.2%; p < 0.00001), correlated with male sex (32.6% in males vs. 21.8% in females; p = 0.01) and it was sensorineural in 79/100. Hypoacusis rate correlated with increasing age (p = 0.0006) but not with phenotype (13/66 non-transfusion-dependent vs. 87/310 transfusion-dependent patients; p = 0.16). Sensorineural-notch prevalence rate did not differ between patients (11.4%) and controls (12.2%); it correlated with age (p = 0.01) but not with patients' sex or phenotype. Among adult patients without chelation therapy, the sensorineural hypoacusis rate was non-significantly lower compared to chelation-treated patients while it was significantly higher compared to controls (p = 0.003). CONCLUSIONS: Sensorineural hypoacusis rate is high in beta-thalassaemia (about 21%) and it increases with age and in males while disease severity or chelation treatment seems to be less relevant. The meaning of sensorineural-notch in beta-thalassaemia appears questionable.
Subject(s)
beta-Thalassemia , Humans , beta-Thalassemia/complications , beta-Thalassemia/therapy , Male , Female , Adult , Case-Control Studies , Middle Aged , Italy/epidemiology , Young Adult , Chelation Therapy , Hearing Loss/epidemiology , Hearing Loss/etiology , Adolescent , Audiometry, Pure-Tone , Hearing Loss, Sensorineural/epidemiology , Hearing Loss, Sensorineural/etiology , PrevalenceABSTRACT
PURPOSE OF REVIEW: We aimed to reach an Italian multidisciplinary consensus on some crucial aspects of treatment decision making in CRSwNP, following 2 years of clinical experience in order to support specialists in the management of CRSwNP in clinical practice. We addressed issues relating to therapeutic decision-making and shared criteria for the treatment choice, as well as appropriate timing and criteria for evaluating treatment response, and highlighted the need for repeated multidisciplinary assessments. RECENT FINDINGS: A national survey has been conducted recently to understand how rhinology practice has changed in Italy with the advent of biologics and how this affects patients with uncontrolled, severe CRSwNP. Despite the many published consensus documents, practical recommendations, and protocols on the use of biologics in CRSwNP, heterogenous behaviors in practice are still observed mainly conditioned by the novelty of the topic. The consensus procedure followed a modified Delphi approach. The scientific board included 18 otorhinolaryngologists and 8 allergists, who selected the 4 main topics to be addressed and developed overall 20 statements. Consensus on these statements was sought by a larger group of 48 additional experts, through two rounds of voting, the first web-based, the second in presence with discussion and possible refinement of the statements. The statements reaching an average score ≥ 7 at the second voting round were approved. Five statements were proposed for each of the following topics: baseline evaluation of patients eligible for biologic therapy; choice between different therapeutic options; assessment of the response to biologic treatment; multidisciplinary management. At the first voting round, 19 out of the 20 statements reached a mean score ≥ 7. Following the discussion and a few consequent amendments, at the second round of voting all the 20 statements were approved.
Subject(s)
Biological Products , Nasal Polyps , Humans , Consensus , Italy , Biological Therapy , Biological Products/therapeutic use , Nasal Polyps/drug therapy , Chronic DiseaseABSTRACT
BACKGROUND: The aim of the current study is to measure the prevalence and the potential role of International Prostate Symptom Score (IPSS) score as a predictor of obstructive sleep apnea syndrome (OSAS) in male experienced lower urinary tract symptoms (LUTS). METHODS: A cross-sectional web-based Italian survey was administered via Google Forms between July 17 and October 31, 2022. The urinary functioning was measured through the IPSS questionnaire. Specifically, we considered symptoms occurring more than "about half the time" (score ≥ 3) as bothering symptoms. Multivariable logistic regression models (LRMs) adjusting for age, body mass index (BMI), International Index of Erectile Function-5, IPSS, and hypertension were fitted to predict OSAS in the cohort of men responding to the survey and experiencing LUTS. RESULTS: Overall, 58 (24.4%) patients had a confirmed diagnosis of OSAS. The overall median IPSS was 5 (inter quartile range [IQR]: 3-8), respectively. According to IPSS items, 24 (10%), 44 (18.4%), 12 (5%), 12 (5%), 12 (5%), 11 (4.6%), 63 (26.4%) patients exhibit incomplete bladder emptying, urinary frequency, intermittency, urgency, weak stream, straining, nocturia with a score ≥ 3, respectively. After multivariable LRMs predicting the developing OSAS, age (odds ratio [OR]: 1.09, p < 0.001), BMI (OR:1.12, p < 0.001) and IPSS total score (OR:1.08, p = 0.02) were independent predicting factors. CONCLUSION: This analysis revealed that the IPSS total score, age, and BMI are independent predictors of OSAS in males. In this context, the use of IPSS in daily practice could be helpful in assessing the LUTS presence and in supporting physicians to identify a hidden sleep apnea condition.
Subject(s)
Lower Urinary Tract Symptoms , Nocturia , Sleep Apnea, Obstructive , Urination Disorders , Humans , Male , Middle Aged , Cross-Sectional Studies , Lower Urinary Tract Symptoms/diagnosis , Lower Urinary Tract Symptoms/epidemiology , Nocturia/diagnosis , Nocturia/epidemiology , Nocturia/etiology , Urination Disorders/epidemiology , Sleep Apnea, Obstructive/diagnosis , Sleep Apnea, Obstructive/epidemiologyABSTRACT
PURPOSE: Although COVID-19 anosmia is often transient, patients with persistent olfactory dysfunction (pOD) can experience refractory parosmia and diminished smell. This study evaluated four putative therapies for parosmia in patients with chronic COVID-19 olfactory impairment. METHODS: After screening nasal endoscopy, 85 patients (49 female, 58%) with pOD and treatment-refractory parosmia were randomized to: (1) ultramicronized palmitoylethanolamide and luteolin + olfactory training (OT) (umPEALUT group, n = 17), (2) alpha-lipoic acid + OT (ALA group, n = 21), (3) umPEALUT + ALA + OT (combination group, n = 28), or 4) olfactory training (OT) alone (control group, n = 23). Olfactory function was assessed at baseline (T0) and 6 months (T1) using a parosmia questionnaire and Sniffin' Sticks test of odor threshold, detection, and identification (TDI). Analyses included one-way ANOVA for numeric data and Chi-Square analyses for nominal data on parosmia. RESULTS: The umPEALUT group had the largest improvement in TDI scores (21.8 ± 9.4 to 29.7 ± 7.5) followed by the combination group (19.6 ± 6.29 to 27.5 ± 2.7), both p < 0.01. The control and ALA groups had no significant change. Patients in the combination and umPEALUT groups had significantly improved TDI scores compared to ALA and control groups (p < 0.001). Rates of parosmia resolution after 6 months were reported at 96% for combination, 65% for control, 53% for umPEALUT and 29% for ALA (p < 0.001). All treatment regimens were well-tolerated. CONCLUSIONS: umPEALUT and OT, with or without ALA, was associated with improvement in TDI scores and parosmia, whereas OT alone or OT with ALA were associated with little benefit.
Subject(s)
COVID-19 , Olfaction Disorders , Thioctic Acid , Humans , Female , COVID-19/complications , Male , Middle Aged , Olfaction Disorders/etiology , Olfaction Disorders/therapy , Olfaction Disorders/rehabilitation , Thioctic Acid/therapeutic use , Thioctic Acid/administration & dosage , Ethanolamines/therapeutic use , Palmitic Acids/therapeutic use , Palmitic Acids/administration & dosage , Amides/therapeutic use , Adult , SARS-CoV-2 , Treatment Outcome , Aged , Anosmia/etiology , Anosmia/therapy , Smell/physiology , Combined Modality Therapy , Olfactory TrainingABSTRACT
BACKGROUND: Chronic rhinosinusitis with nasal polyps (CRSwNP) is associated with significant morbidity and reduced health-related quality of life. Findings from clinical trials have demonstrated the effectiveness of dupilumab in CRSwNP, although real-world evidence is still limited. METHODS: This Phase IV real-life, observational, multicenter study assessed the effectiveness and safety of dupilumab in patients with severe uncontrolled CRSwNP (n = 648) over the first year of treatment. We collected data at baseline and after 1, 3, 6, 9, and 12 months of follow-up. We focused on nasal polyps score (NPS), symptoms, and olfactory function. We stratified outcomes by comorbidities, previous surgery, and adherence to intranasal corticosteroids, and examined the success rates based on current guidelines, as well as potential predictors of response at each timepoint. RESULTS: We observed a significant decrease in NPS from a median value of 6 (IQR 5-6) at baseline to 1.0 (IQR 0.0-2.0) at 12 months (p < .001), and a significant decrease in Sino-Nasal Outcomes Test-22 (SNOT-22) from a median score of 58 (IQR 49-70) at baseline to 11 (IQR 6-21; p < .001) at 12 months. Sniffin' Sticks scores showed a significant increase over 12 months (p < .001) compared to baseline. The results were unaffected by concomitant diseases, number of previous surgeries, and adherence to topical steroids, except for minor differences in rapidity of action. An excellent-moderate response was observed in 96.9% of patients at 12 months based on EPOS 2020 criteria. CONCLUSIONS: Our findings from this large-scale real-life study support the effectiveness of dupilumab as an add-on therapy in patients with severe uncontrolled CRSwNP in reducing polyp size and improving the quality of life, severity of symptoms, nasal congestion, and smell.
Subject(s)
Nasal Polyps , Rhinitis , Sinusitis , Humans , Nasal Polyps/complications , Nasal Polyps/drug therapy , Quality of Life , Rhinitis/complications , Rhinitis/drug therapy , Adrenal Cortex Hormones/therapeutic use , Sinusitis/complications , Sinusitis/drug therapy , Chronic DiseaseABSTRACT
PURPOSE OF REVIEW: In the clinical practice, patients affected by chronic rhinosinusitis (CRS) commonly complain of otologic symptoms. This review aims to describe the available literature evidence assessing the relationship between CRS and ear illnesses published in the last 5 years. RECENT FINDINGS: Available evidence suggests a higher prevalence of otologic symptoms in patients suffering from CRS, affecting up to 87% of patients. These symptoms may be related to Eustachian tube dysfunction, which improves after treatment for CRS. A few studies suggested a potential but not confirmed role of CRS in cholesteatoma, chronic otitis media, and sensorineural hypoacusis. A special type of otitis media with effusion (OME) may occur in patients with CRS, which seems to respond well to new biologic therapy. Ear symptoms appear to be highly prevalent in patients with CRS. So far, the available evidence is robust only for Eustachian tube dysfunction, which has been shown to be particularly impaired in CRS patients. Additionally, the Eustachian tube function appears to improve after treatment for CRS. Finally, interesting preliminary data were described for eosinophilic otitis media, as it appears to respond well to the treatment with biologics.
Subject(s)
Ear Diseases , Eustachian Tube , Otitis Media with Effusion , Otitis Media , Sinusitis , Humans , Ear Diseases/complications , Ear Diseases/epidemiology , Otitis Media with Effusion/complications , Otitis Media with Effusion/epidemiology , Chronic Disease , Sinusitis/complications , Sinusitis/epidemiologyABSTRACT
The central gustatory pathway encompasses multiple subcortical and cortical regions whose neural functional connectivity can be modulated by taste stimulation. While gustatory perception has been previously linked to sex, whether and how the gustatory network differently responds to basic tastes between men and women is unclear. Here, we defined the regions of the central gustatory network by a meta-analysis of 35 fMRI taste activation studies and then analyzed the taste-evoked functional connectivity between these regions in 44 subjects (19 women) in a separate 3 Tesla activation study where sweet and bitter solutions, at five concentrations each, were administered during scanning. From the meta-analysis, a network model was set up, including bilateral anterior, middle and inferior insula, thalamus, precentral gyrus, left amygdala, caudate and dorsolateral prefrontal cortex. Higher functional connectivity than in women was observed in men between the right middle insula and bilateral thalami for bitter taste. Men exhibited higher connectivity than women at low bitter concentrations and middle-high sweet concentrations between bilateral thalamus and insula. A graph-based analysis expressed similar results in terms of nodal characteristics of strength and centrality. Our findings add new insights into the mechanisms of taste processing by highlighting sex differences in the functional connectivity of the gustatory network as modulated by the perception of sweet and bitter tastes. These results shed more light on the neural origin of sex-related differences in gustatory perception and may guide future research on the pathophysiology of taste perception in humans.
Subject(s)
Sex Characteristics , Taste , Brain Mapping , Female , Humans , Magnetic Resonance Imaging , Male , Taste/physiology , Taste Perception/physiology , ThalamusABSTRACT
PURPOSE OF REVIEW: Non-allergic rhinitis (NAR) includes different subtypes, among which NAR with eosinophilia syndrome (NARES) is the most important because of severity of symptoms and the high risk of comorbidities. Its pathophysiology is still object of debate, but a crucial role of chronic eosinophilic inflammation has been recognized. The aim of this review is to critically analyze the current evidence regarding the hypothesis that NARES may be considered a type 2 inflammatory disorder. RECENT FINDINGS: The definition and diagnostic criteria for NARES are not universally shared and adopted, thus generating difficulties in reproducing the results. At present, there is extreme heterogeneity in sampling methods and disagreement in the cut-off of local eosinophilic count to determine a diagnosis of NARES. The PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) standard was applied to identify English-language experimental and clinical articles regarding NARES. The search was performed in April 2021. Twenty-six articles were included. Our data suggest a particular heterogeneity regarding sampling and specific cut-offs adopted for diagnosis of NARES and consensus should be reached. We suggest that eosinophil count should be reported as an absolute value for at least 10 observed rich fields in order to increase the level of standardization. Consensus among authors on this topic should be reached with particular attention to the cut-off for diagnosis. In the future, this limitation may be overcome by the identification of repeatable biomarkers to refine diagnosis and prognosis of NARES. Furthermore, our data strongly suggest that NARES have numerous similarities with clinical features of the most common type 2 diseases such as eosinophilic asthma and chronic rhinosinusitis with nasal polyps (CRSwNP): late onset, association with type 2 comorbidities, selective eosinophilic tissue infiltration, remarkable response to oral and intranasal corticosteroids, and progression in a type 2 CRSwNP.
Subject(s)
Eosinophilia , Nasal Polyps , Rhinitis , Sinusitis , Chronic Disease , Eosinophilia/diagnosis , Eosinophils/pathology , Humans , Inflammation/diagnosis , Inflammation/pathology , Nasal Polyps/complications , Rhinitis/complications , Sinusitis/complicationsABSTRACT
This cross-sectional study aimed to investigate the prevalence and clinical characteristics of erectile dysfunction in patients with obstructive sleep apnoea. We enrolled 133 male patients with suspected obstructive sleep apnoea. Ear, nose and throat evaluation, laboratory tests, body mass index, Epworth sleepiness scale, 5-international index of erectile function, overnight ambulatory polygraphy and drug-induced sleep endoscopy patterns were assessed. Eighty patients reported obstructive sleep apnoea. 60% (n = 48) reported erectile dysfunction. Statistically significant correlations were found between 5-International Index of Erectile Function and age, hypertension, diabetes, Epworth sleepiness scale, apnoea-hypopnea index score, O2 saturation-nadir, and oxygen desaturation index. Age, diabetes and O2 saturation-nadir were independent predictors of erectile function. Epworth sleepiness scale, apnoea-hypopnea index score, O2 saturation-nadir, oxygen desaturation index and albumin were higher compared to patients without erectile dysfunction. No statistically significant differences were reported for drug-induced sleep endoscopy patterns and erectile dysfunction. Patients with obstructive sleep apnoea were at significant risk of having erectile dysfunction. Males with obstructive sleep apnoea should be investigated for erectile dysfunction.
Subject(s)
Erectile Dysfunction , Sleep Apnea, Obstructive , Cross-Sectional Studies , Erectile Dysfunction/diagnosis , Erectile Dysfunction/epidemiology , Erectile Dysfunction/etiology , Humans , Male , Oxygen , Prospective Studies , Risk Factors , Sleep Apnea, Obstructive/complications , Sleep Apnea, Obstructive/diagnosis , Sleep Apnea, Obstructive/epidemiology , SleepinessABSTRACT
PURPOSE: Loss of smell decreases the quality of life and contributes to the failure in recognizing hazardous substances. Given the relevance of olfaction in daily life, it is important to recognize an undiagnosed olfactory dysfunction to prevent these possible complications. Up to now, the prevalence of smell disorders in Italy is unknown due to a lack of epidemiological studies. Hence, the primary aim of this study was to evaluate the prevalence of olfactory dysfunction in a sample of Italian adults. METHODS: Six hundred and thirty-three participants (347 woman and 286 men; mean age 44.9 years, SD 17.3, age range 18-86) were recruited from 10 distinct Italian regions. Participants were recruited using a convenience sapling and were divided into six different age groups: 18-29 years (N = 157), 30-39 years (N = 129), 40-49 years (N = 99), 50-59 years (N = 106), > 60 years (N = 142). Olfactory function, cognitive abilities, cognitive reserve, and depression were assessed, respectively, with: Sniffin' Sticks 16-item Odor Identification Test, Montreal Cognitive Assessment, Cognitive Reserve Index, and the Beck Depression Inventory. Additionally, socio-demographic data, medical history, and health-related lifestyle information were collected. RESULTS: About 27% of participants showed an odor identification score < 12 indicating hyposmia. Multiple regression analysis revealed that OI was significantly correlated with age, sex, and cognitive reserve index, and young women with high cognitive reserve index showing the highest olfactory scores. CONCLUSION: This study provides data on the prevalence of olfactory dysfunction in different Italian regions.
Subject(s)
Cognitive Reserve , Olfaction Disorders , Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Italy/epidemiology , Male , Middle Aged , Odorants , Olfaction Disorders/diagnosis , Olfaction Disorders/epidemiology , Quality of Life , Smell , Young AdultABSTRACT
BACKGROUND: Allergic rhinitis is a common childhood disease responsible for a major impact on quality of life and healthcare resources. Many hypotheses have been proposed to explain the link between allergy and otitis media, although a definitive mechanism has not been identified yet. One of the major critical points is that authors failed in distinguishing among different phenotypes of middle ear inflammation. This review pointed out literature evidence from the laboratory and clinical experience linking allergy to different phenotypes of otitis media in children. METHODS: We performed a systematic review in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) process. Our search yielded 3010 articles that were finally screened. This resulted in 20 manuscripts of which the full texts were included in a qualitative analysis. We paid particular attention in distinguishing among phenotypes of otitis media. RESULTS: Clinical evidence and analyses of biomarkers suggested that allergy may be linked to some phenotypes of otitis media and, in particular, to otitis media with effusion (OME) and acute re-exacerbations in children with middle ear effusion. It was not possible to perform the analysis for allergy and acute and chronic otitis media because of paucity and heterogeneity of data. CONCLUSION: Allergy should be considered in the diagnostic workup of children with OME as well as OME should be excluded in children with persistent moderate to severe AR. In these cases, clinicians should evaluate prompt and accurate treatment of allergy in improving outcomes, although futures studies are required to increase evidence supporting that anti-allergy treatment may be effective in the recovery and outcome of otitis media with effusion.
Subject(s)
Otitis Media with Effusion , Otitis Media , Rhinitis, Allergic , Child , Humans , Otitis Media with Effusion/diagnosis , Phenotype , Quality of LifeABSTRACT
PURPOSE OF THE REVIEW: We provide a systematic review of experimental and clinical evidences linking allergy to acute, including common cold, and chronic rhinosinusitis in children. Furthermore, we questioned if anti-allergy treatment may prevent the occurrence of rhinosinusitis or improve outcomes of its specific management. RECENT FINDINGS: Allergic rhinitis is a common childhood disease in industrialized countries that is responsible for a major impact on quality of life and healthcare resources. Over the years many authors tried to correlate allergy with comorbidities and in particular to the onset of rhinosinusitis including common cold, even though conflicting results are frequently reached. We performed a systematic review in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) process. Our search yielded 7103 that were finally screened. This resulted in 25 publications of which the full texts were assessed and included in a qualitative analysis per different phenotypes of rhinosinusitis. The evidence suggests that allergy may lead to overall impairment of mechanical and immunological defense function of the nasal mucosa against viruses and that anti-allergy treatment may significantly decrease the number and severity of upper respiratory tract infections including common colds in children. It was not possible to perform the analysis for allergy and post-viral acute rhinosinusitis, bacterial acute rhinosinusitis, and recurrent acute rhinosinusitis because of paucity and heterogeneity of data. Although there is no definitive proof of causation linking allergy to chronic rhinosinusitis, studies lead to suppose that anti-allergy treatment may improve outcomes of specific CRS treatments.
Subject(s)
Histamine Antagonists/therapeutic use , Rhinitis, Allergic/complications , Rhinitis, Allergic/drug therapy , Rhinitis/etiology , Sinusitis/etiology , Acute Disease , Allergens/immunology , Biomarkers/blood , Child , Chronic Disease , Humans , Rhinitis, Allergic/bloodABSTRACT
The human gustatory cortex analyzes the chemosensory properties of tastants, particularly the quality, intensity, and affective valence, to determine whether a perceived substance should be ingested or rejected. Among previous studies, the spatial distribution of taste intensity-related activations within the human insula has been scarcely addressed. To spatially characterize a specialized or distributed nature of the cortical responses to taste intensities, a functional magnetic resonance imaging study was performed at 3 T in 44 healthy subjects where sweet and bitter tastants were administered at five increasing concentrations and cortex-based factorial and parametric analyses were performed. Two clusters in the right middle-posterior and left middle insula were found specialized for taste intensity processing, exhibiting a highly nonlinear profile across concentrations. Multiple clusters were found activated by sweet and bitter taste stimuli at most concentrations, in the anterior, middle-posterior, and inferior portion of the bilateral insula. Across these clusters, respectively, for the right and left insula, a superior-to-inferior and an anterior-to-posterior spatial gradient for high-to-low concentrations were observed for the most responsive intensity of both tastes. These findings may gather new insights regarding how the gustatory cortex is spatially organized during the perceptual processing of taste intensity for two basic tastants.
Subject(s)
Cerebral Cortex/diagnostic imaging , Cerebral Cortex/metabolism , Magnetic Resonance Imaging/methods , Taste Perception/physiology , Adult , Female , Humans , Male , Random Allocation , Taste/physiology , Young AdultABSTRACT
Gustatory perception has been poorly explored in Parkinson's disease (PD). Aim of this study was to assess the flavor ability in PD patients, using the "flavor test" (FT), a new standardized and validated tool to examine the flavor perception. Thirty-eight patients (17 F and 21 M) and 36 control subjects (15 F and 21 M) comparable for age and gender were enrolled. All the subjects underwent the flavor test (FT), the Sniffin' Sticks test (SST), and the gustometry test (GT), based on the basic four tastants ("salty," "sour," "sweet," and "bitter"). PD patients presented a FT score significantly lower than controls (p < 0.001). Olfaction (SST) was impaired in PD in comparison with controls (p < 0.001), and the patients also showed a mild reduction of basic tastant identification at the GT (p = 0.08), with a trend toward statistical significance. There was no correlation between SST, FT, and GT. GT performance was negatively correlated with disease severity (p = 0.004) and stage (p = 0.024). The SST and FT resulted abnormal in PD in comparison with controls, independently of disease duration and severity. The ability to identify the basic four tastants was correlated with the disease severity and stage in PD patients suggesting that it might occur later in the course of the disease. FT might be a sensitive tool in identifying the sensorineural perception dysfunction in PD, even in the early stage and regardless of the disease severity.
Subject(s)
Parkinson Disease/complications , Parkinson Disease/diagnosis , Taste Disorders/diagnosis , Taste Disorders/etiology , Adult , Aged , Disease Progression , Female , Humans , Male , Middle Aged , Parkinson Disease/physiopathology , Severity of Illness Index , Taste Disorders/physiopathology , Taste Perception/physiologyABSTRACT
Mirror movements (MM) might be observed in congenital and acquired neurodegenerative conditions but their anatomic-functional underpinnings are still largely elusive. This study investigated the spectral changes of resting-state functional connectivity in Kallmann Syndrome (hypogonadotropic hypogonadism with hypo/anosmia with or without congenital MM) searching for insights into the phenomenon of MM. Forty-four Kallmann syndrome patients (21 with MM) and 24 healthy control subjects underwent task (finger tapping) and resting-state functional MRI. The spatial pattern of task-related activations was used to mask regions and select putative motor networks in a spatially independent component analysis of resting-state signals. For each resting-state independent component time-course power spectrum, we extracted the relative contribution of four separate bands: slow-5 (0.01-0.027 Hz), slow-4 (0.027-0.073 Hz), slow-3 (0.073-0.198 Hz), slow-2 (0.198-0.25 Hz), and analyzed the variance between groups. For the sensorimotor network, the analysis revealed a significant group by frequency interaction (P = 0.002) pointing to a frequency shift in the spectral content among subgroups with lower slow-5 band and higher slow-3 band contribution in Kallmann patients with MM versus controls (P = 0.028) and with lower slow-5 band contribution between patients with and without MM (P = 0.057). In specific regions, as obtained from hand motor activation task analysis, spectral analyses demonstrated a lower slow-5 band contribution in Kallmann patients with MM versus both controls and patients without MM (P < 0.05). In Kallmann syndrome, the peculiar phenomenon of bimanual synkinesis is associated at rest with regionally and spectrally selective functional connectivity changes pointing to a distinctive cortical and subcortical functional reorganization. Hum Brain Mapp 39:42-53, 2018. © 2017 Wiley Periodicals, Inc.
Subject(s)
Brain/physiopathology , Kallmann Syndrome/physiopathology , Movement Disorders/physiopathology , Adult , Brain/diagnostic imaging , Brain Mapping , Female , Fingers/physiopathology , Humans , Kallmann Syndrome/diagnostic imaging , Magnetic Resonance Imaging , Male , Motor Activity/physiology , Movement Disorders/diagnostic imaging , Neural Pathways/diagnostic imaging , Neural Pathways/physiopathology , RestABSTRACT
BACKGROUND: Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been reported in OAVS patients but their rate, features, and relationship with phenotype severity have yet to be defined. MATERIAL AND METHODS: Parotid and submandibular salivary gland hypo/aplasia was evaluated on head MRI of 25 OAVS patients (16 with severe phenotype, Goldenhar syndrome) and 11 controls. RESULTS: All controls disclosed normal salivary glands. Abnormal parotid glands were found exclusively ipsilateral to facial microsomia in 21/25 OAVS patients (84%, aplasia in six patients) and showed no association with phenotype severity (14/16 patients with Goldenhar phenotype vs 7/9 patients with milder phenotype, p = 0.6). Submandibular salivary gland hypoplasia was detected in six OAVS patients, all with concomitant ipsilateral severe involvement of the parotid gland (p < 0.001). Submandibular salivary gland hypoplasia was associated to Goldenhar phenotype (p < 0.05). Parotid gland abnormalities were associated with ipsilateral fifth (p < 0.001) and seventh cranial nerve (p = 0.001) abnormalities. No association was found between parotid gland anomaly and ipsilateral internal carotid artery, inner ear, brain, eye, or spine abnormalities (p > 0.6). CONCLUSIONS: Salivary gland abnormalities are strikingly common in OAVS. Their detection might help the management of OAVS-associated swallowing and feeding impairment.
Subject(s)
Goldenhar Syndrome/pathology , Magnetic Resonance Imaging/methods , Parotid Gland/abnormalities , Parotid Gland/diagnostic imaging , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , PhenotypeABSTRACT
The functional interplay between hemispheres is fundamental for behavioral, cognitive, and emotional control. Anorexia nervosa (AN) and bulimia nervosa (BN) have been largely studied with brain magnetic resonance imaging (MRI) in relation to the functional mechanisms of high-level processing, but not in terms of possible inter-hemispheric functional connectivity anomalies. Using resting-state functional MRI (fMRI), voxel-mirrored homotopic connectivity (VMHC) and regional inter-hemispheric spectral coherence (IHSC) were studied in 15 AN and 13 BN patients and 16 healthy controls (HC). Using T1-weighted and diffusion tensor imaging MRI scans, regional VMHC values were correlated with the left-right asymmetry of corresponding homotopic gray matter volumes and with the white matter callosal fractional anisotropy (FA). Compared to HC, AN patients exhibited reduced VMHC in cerebellum, insula, and precuneus, while BN patients showed reduced VMHC in dorso-lateral prefrontal and orbito-frontal cortices. The regional IHSC analysis highlighted that the inter-hemispheric functional connectivity was higher in the 'Slow-5' band in all regions except the insula. No group differences in left-right structural asymmetries and in VMHC vs. callosal FA correlations were significant in the comparisons between cohorts. These anomalies, not explained by structural changes, indicate that AN and BN, at least in their acute phase, are associated with a loss of inter-hemispheric connectivity in regions implicated in self-referential, cognitive control and reward processing. These findings may thus gather novel functional markers to explore aberrant features of these eating disorders.
Subject(s)
Anorexia/physiopathology , Bulimia Nervosa/physiopathology , Gray Matter/physiopathology , White Matter/physiopathology , Adolescent , Adult , Cognition/physiology , Diffusion Tensor Imaging/methods , Female , Frontal Lobe/physiopathology , Humans , Magnetic Resonance Imaging/methods , Male , Middle Aged , Young AdultABSTRACT
Although individuals categorize odors according to their pleasantness, experience may also influence odor perception-a phenomenon that partially explains why different populations perceive odors differently. Italy, which comprises 20 regions, is characterized by very different cultures. In the present study, we investigated for the first time how Italian regional differences can affect odor perception. 254 healthy volunteers coming from northern, central, southern Italy, and Sicily, one of the two major Italian islands, were recruited in Padua, Rome, Naples, and Syracuse, respectively. Olfactory function was tested with Sniffin' Sticks identification subtest. Subjects who had a score in the range within the mean identification value ± 1 SD, in accordance with the age classes identified in the literature, were asked to judge the odor pleasantness of 20 substances. The hedonic tone of the odorants was categorized as pleasant, neutral, unpleasant, and very unpleasant. Some odorants were appreciated more in northern Italy than in the other parts of the country, whereas others were appreciated more in the south and in Sicily than in the north. Unpleasant odorants were judged less unpleasant in central Italy. Some odorants such as strawberry and vanilla were perceived similarly in all the regional areas. Our study indicates that in Italy, hedonic perception of odorants differs probably in relation with genetic, cultural, and environmental factors. Further investigation is needed to delve deeper into the factors that influence the quality odor perception amongst humans.
Subject(s)
Odorants , Olfactory Perception , Adult , Female , Humans , Italy , Male , Sicily , Smell/physiology , Statistics, Nonparametric , Trigeminal GanglionABSTRACT
BACKGROUND: This study evaluates endoscopic and quality of life (QoL) outcomes in two groups, composed by both allergic (A) and non-allergic (N-A) adolescents undergoing septoplasty with concurrent turbinate surgery by radiofrequency treated after surgery with nasal spray containing liposomes and vitamins A and E. METHODS: This double-blind randomized study was carried out on 40 patients (22 males, 18 females, mean age 15.5±1.0 years) undergoing septoplasty and volumetric tissue reduction of inferior turbinates by radiofrequency for post-traumatic deformities and severe nasal obstruction. We enrolled 20 subjects with positive skin prick tests and 20 with negative skin prick tests (SPT) to aeroallergens. All subjects underwent the Visual Analogue Scale (VAS) questionnaire and the nasal endoscopy score by Lund and Kennedy (LK) at baseline before surgery (T0) and 15 days (T15) and 21 days (T21) after treatment. After surgery, the nose was not packed and the day after surgery all subjects were randomized into two groups, experimental arm group I (GI) and control arm group II (GII) and given the treatment, nasal spray containing liposomes composed of phospholipids, fatty acids, and vitamin A and E for group I and saline solution (sodium chloride 0.9%) for group II. RESULTS: After therapy, the VAS and LK scores were better (P<0.05) in the investigational than in the control arm in both sub-groups (A and N-A). CONCLUSIONS: Our findings suggested that liposomal, vitamins A and E nasal spray improves the QoL in the early postoperative period, both in A and N-A sub-groups.
Subject(s)
Nasal Septum/surgery , Rhinoplasty/methods , Turbinates/surgery , Vitamin A/administration & dosage , Vitamin E/administration & dosage , Adolescent , Double-Blind Method , Endoscopy , Female , Humans , Hypersensitivity/diagnosis , Hypersensitivity/immunology , Liposomes , Male , Nasal Obstruction/surgery , Nasal Sprays , Phospholipids/administration & dosage , Quality of Life , Surveys and Questionnaires , Time Factors , Treatment OutcomeABSTRACT
OBJECTIVE: Nonallergic rhinitis (NAR) causes significant functional and emotional impairment, affecting the quality of life (QoL) of elderly patients often suffering from other chronic diseases that require additional therapies to be added to the numerous daily medications. This study aimed to evaluate the effectiveness of crenotherapy with sodium chloride sulfate hyperthermal water rich in mineral salts on the QoL of elderly patients with NAR. METHODS: Sixty elderly subjects with NAR were divided into 2 groups. Group I (n = 30) underwent crenotherapy with sodium chloride sulfate hyperthermal water rich in mineral salts, and group II (n = 30) underwent treatment with NaCl 0.9%. At baseline and after treatment, both groups underwent nasal endoscopy, and we determined their Visual Analogue Scale (VAS) scores for rhinorrhea, respiratory obstruction and sneezing. RESULTS: After treatment, the patients in both groups reported having no adverse reactions. Endoscopic and VAS score results were better in group I than in group II. All subjects showed a good degree of tolerability. CONCLUSIONS: Our data suggest that crenotherapy improves the QoL in elderly patients with NAR. Crenotherapy can prevent elderly patients with NAR from having to take additional medications, which can often cause relevant adverse reactions and considerable health care costs.