Correlation between Apnea Severity and Sagittal Cephalometric Features in a Population of Patients with Polysomnographically Diagnosed Obstructive Sleep Apnea

Background and Objective: Obstructive sleep apnea (OSA) is a sleep-related breathing disorder featuring a repeated closure of the upper airway during sleep. Craniofacial anatomy is a potential risk and worsening factor for OSA. This study aims to assess the relationship between cephalometric features of craniofacial morphology and OSA severity in a population of patients with OSA. Material and Methods: A sample of forty-two patients (n = 42, M = 76%, mean age = 57.8 ± 10.8) with a polysomnographically (PSG) confirmed diagnosis of OSA were recruited and underwent cephalometric evaluation of 16 cephalometric variables. In addition, the apnea–hypopnea index (AHI), oxygen desaturation (SatMin), Epworth sleepiness scale (ESS), and body mass index (BMI) were assessed. Then t-tests were performed to compare the values of all cephalometric variables between two AHI severity-based groups (mild-to-moderate = AHI ≤ 30; severe = AHI > 30). Single- and multiple-variable regression analyses were performed to assess the associations between AHI scores and cephalometric features. Results: Mean AHI, SatMin, and BMI were 31.4 ev/h, 78.7%, and 28.1, respectively. The cephalometric variables were not significantly different between the two OSA-severity groups (p > 0.05). Multiple-variable regression analyses showed that gonial angle and nasopharynx space were negatively associated with AHI, explaining 24.6% of the total variance. Conclusion: This investigation reported that severity of AHI scores in patients with OSA showed a negative correlation with gonial angle and nasopharynx space. As a general remark, although maxillofacial anatomy can be a predisposing factor for OSA, disease severity depends mainly upon other variables

Molecular detection of Theileria equi in donkeys (Equus asinus) in a selected site in central Italy

Equine piroplasmosis is among the most relevant tick-borne diseases of domestic and wild equids. Donkeys (Equus asinus) represent a potential reservoir for haemoparasites by harbouring tick-transmitted haemoparasites that can infect horses. We investigated the occurrence of Babesia caballi and Theileria equi in a donkey farm in the province of Grosseto (central Italy) to determine their prevalence of infection. For this purpose, conventional polymerase chain reaction (PCR) assays were carried out on blood samples from 109 donkeys. These included 85 females and 24 males as well as 36 young, 49 adult and 24 old animals. B. caballi and T. equi were detected by using primers that amplify an approximately 560 bp portion of the small-subunit ribosomal DNA of most Babesia and Theileria species. All PCR-positive samples were sequenced to determine the species of amplified Babesia and Theileria DNA. Sequencing data analysis revealed that 36 (33%, 95% CI: 24.2-40.9%) donkeys were positive for T. equi DNA. No samples were positive for B. caballi DNA. T. equi PCR-positivity drastically increased with age (from 0% to 46.9% and 54.2%) and was not significantly associated with the gender. These results highlight the high molecular prevalence of T. equi in a donkey farm of central Italy and support the role of donkeys as carriers and reservoirs of theileriosis for horses. The lack of B. caballi DNA needs further investigation

Evaluation of the oncogenic risk of diffuse gastric polyposis. A case report

Benign polyps of the stomach undergo malignant transformation at a rate correlating to the histological type and size of the proliferative lesion. We report a case of a 50-year-old Caucasian woman, affected by a diffuse gastric polyposis of both hyperplastic and adenomatous type. At endoscopy polyps were more than 1,000, scattered over the entire gastric cavity. The patient underwent total gastrectomy. The perilesional gastric mucosa was characterized by the presence of either atrophic or metaplastic areas and by a mild dysplasia. A single tubulo-villous adenomatous polyp was also present in the ascending tract of the colon. The absence of both high-grade dysplastic lesions and outbreaks of neoplastic transformation well correlated with the histochemical and molecular features, confirming the highly proliferative pattern of the polyps in the lack of signs of malignant progression

Fibroblast growth factor 2-antagonist activity of a long-pentraxin 3-derived antiangiogenic pentapeptide.

Fibroblast growth factor-2 (FGF2) plays a major role in angiogenesis. The pattern recognition receptor long-pentraxin 3 (PTX3) inhibits the angiogenic activity of FGF2. To identify novel FGF2-antagonistic peptide(s), four acetylated (Ac) synthetic peptides overlapping the FGF2-binding region PTX3-(97-110) were assessed for their FGF2-binding capacity. Among them, the shortest pentapeptide Ac-ARPCA-NH(2) (PTX3-[100-104]) inhibits the interaction of FGF2 with PTX3 immobilized to a BIAcore sensorchip and suppresses FGF2-dependent proliferation in endothelial cells, without affecting the activity of unrelated mitogens. Also, Ac-ARPCA-NH(2) inhibits angiogenesis triggered by FGF2 or by tumorigenic FGF2-overexpressing murine endothelial cells in chick and zebrafish embryos, respectively. Accordingly, the peptide hampers the binding of FGF2 to Chinese Hamster ovary cells overexpressing the tyrosine-kinase FGF receptor-1 (FGFR1) and to recombinant FGFR1 immobilized to a BIAcore sensorchip without affecting heparin interaction. In all the assays the mutated Ac-ARPSA-NH(2) peptide was ineffective. In keeping with the observation that hydrophobic interactions dominate the interface between FGF2 and the FGF-binding domain of the Ig-like loop D2 of FGFR1, amino acid substitutions in Ac-ARPCA-NH(2) and saturation transfer difference-nuclear magnetic resonance analysis of its mode of interaction with FGF2 implicate the hydrophobic methyl groups of the pentapeptide in FGF2 binding. These results will provide the basis for the design of novel PTX3-derived anti-angiogenic FGF2 antagonists

Variability of clinical target volume delineation for rectal cancer patients planned for neoadjuvant radiotherapy with the aid of the platform Anatom-e

Objective: Delineation of treatment volumes is a major source of uncertainties in radiotherapy (RT). This is also true for rectal cancer patients undergoing neoadjuvant RT, with a potential impact on treatment quality. We investigated the role of the digital platform Anatom-e (Anatom-e Information Sytems Ltd., Houston, Texas) in increasing the compliance to follow a specific treatment protocol in a multicentric setting. Materials and methods: Two clinical cases of locally advanced rectal cancer were chosen. Participants were instructed to follow the 2009 Radiation Therapy Oncology Group consensus atlas and asked to manually segment clinical target volumes (CTVs), for both patient 1 and 2, on day 1 with and without the use of Anatom-e. After one week (day 2), the same radiation oncologist contoured again, with and without Anatom-e, the same CT series. Intraobserver (Intra-OV) and interobserver (Inter-OV) variability were evaluated with the Dice similarity coefficient (DSC), the Hausdorff distance (HD) and mean distance to agreement (MDA). Results: For clinical case 1, no significant difference was found for Intra-OV and Inter-OV. For clinical case 2, no significant difference was found for Intra-OV but a statistically significant difference was found for Inter-OV in DSC when using or not the platform. Mean DCS was 0.65 (SD: ±0.64; range: 0.58–0.79) for day 1 vs reference volume without Anatom-e and 0.72 (SD: ±0.39; range: 0.67–0.77) (p = 0.03) with it. Mean MDA was lower with Anatom-e (3.61; SD: ±1.33; range: 2.85–4.78) than without (4.14; SD: ±2.97; range: 2.18–5.21), with no statistical significance (p = 0.21) The use of Anatom-e decreased the SD from 2.97 to 1.33. Mean HD was lower with Anatom-e (26.06; SD: ±2.05; range: 24.08–32.62), with no statistical significance (p = 0.14) compared to that without (31.39; SD: ±1.31; range: 26.14–48.72). Conclusions: The use of Anatom-e decreased the Inter-OV in the CTV delineation process for locally advanced rectal cancer with complex disease presentation planned for neoadjuvant RT. This system may be potentially helpful in increasing the compliance to follow shared guidelines and protocols

On the Discovery of Monocular Rivalry by Tscherning in 1898:Translation and Review

Monocular rivalry was named by Breese in 1899. He made prolonged observation of superimposed orthogonal gratings; they fluctuated in clarity with either one or the other grating occasionally being visible alone. A year earlier, Tscherning observed similar fluctuations with a grid of vertical and horizontal lines and with other stimuli; we draw attention to his prior account. Monocular rivalry has since been shown to occur with a wide variety of superimposed patterns with several independent rediscoveries of it. We also argue that Helmholtz described some phenomenon other than monocular rivalry in 1867

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

OBJECTIVE: To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS: Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the diagnostic accuracy of all parameters, we calculated sensitivity, specificity, receiver operating characteristic (ROC) curves, diagnostic odds ratios, and positive and negative predictive values and the accuracy of combined information. We also included in the study demographic and mutational data of the healthy relatives of mutation carrier patients. RESULTS: Ninety-seven individuals (48.5%) had Dravet syndrome, 49 (23.8%) had generalized/genetic epilepsy with febrile seizures plus, 30 (14.8%) had febrile seizures, 6 (3.5%) had focal epilepsy, and 18 (8.9%) were healthy relatives. The association study indicated that age at first seizure and frameshift mutations were associated with Dravet syndrome. The risk of Dravet syndrome was 85% in the 0- to 6-month group, 51% in the 6- to 12-month range, and 0% after the 12th month. ROC analysis identified onset within the sixth month as the diagnostic cutoff for progression to Dravet syndrome (sensitivity = 83.3%, specificity = 76.6%). CONCLUSIONS: In individuals with SCN1A mutations, age at seizure onset appears to predict outcome better than mutation type. Because outcome is not predetermined by genetic factors only, early recognition and treatment that mitigates prolonged/repeated seizures in the first year of life might also limit the progression to epileptic encephalopathy

Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study

Objective: To quantify gait abnormalities in people with Dravet syndrome (DS). Methods: Individuals with a confirmed diagnosis of DS were enrolled, and stratified according to knee flexion at initial contact (IC) and range of motion (ROM) during stance (atypical crouch: knee flexion >20\ub0 at IC and knee ROM >15\ub0 during stance; straight: knee flexion <20\ub0 at IC). A 1D ANOVA (\u3b1 = 0.05) was used to test statistical differences among the joint kinematics and spatio\u2013temporal parameters of the cohort and an age-matched control group. Clinical (neurological and orthopaedic evaluation) and anamnestic data (seizure type, drugs, genetic mutation) were collected; distribution between the two gait phenotypes was assessed with the Fisher exact test and, for mutation, with the chi-squared test (p < 0.05). Linear regression between maximum knee flexion and normalised walking speed was calculated. Results: Seventy-one subjects were enrolled and evaluated with instrumented gait analysis. Fifty-two were included in final analysis (mean age 13.8 \ub1 7.3; M 26). Two gait patterns were detected: an atypical crouch gait (34.6%) with increased ankle, knee and hip flexion during stance, and reduced walking speed and stride length not associated with muscle-tendon retractions; and a pattern resembling those of healthy age-matched controls, but still showing reduced walking speed and stride length. No differences in clinical or anamnestic data emerged between the two groups. Significance: Objectively quantified gait in DS shows two gait patterns with no clear-cut relation to clinical data. Kinematics abnormalities may be related to stabilization issues. These findings may guide rehabilitative and preventive measures