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We employ UV/Vis Diffuse Reflectance spectroscopy directly coupled with a packed bed flow reactor to extract quantitative kinetic information. We use as a show‐case the CuII/CuI redox dynamics during the reduction half cycle of the NH3‐Selective Catalytic Reduction (SCR) on Cu‐CHA catalysts. Our measurements enable quantification of the fraction of oxidized Cu, reconstructed by Multivariate Curve Resolution (MCR) together with monitoring of the gas‐phase evolution during the reaction. These data both on the dynamics of the gas‐phase and of the active site oxidation state have been used to assess the reduction half cycle rate equation and estimate the rate constant. Our results in terms of reaction orders and kinetic constant are in line with previous findings in the literature. Overall, our results demonstrate that the combined analysis of the UV spectra and of the gas‐phase dynamics provides converging and unparalleled kinetic insight: this approach effectively resolves ambiguities concerning RHC kinetics and mechanism. More in general, this work provides evidence that operando spectroscopy can be used to extract quantitative kinetic information on catalytic cycles. [ABSTRACT FROM AUTHOR]

Aims: This study aimed to assess the frequency of dosing inconsistencies in prescription data and the effect of four dosing assumption strategies on adherence estimates for antipsychotic treatment. Methods: A retrospective cohort, which linked prescription and dispensing data of adult patients with ≥1 antipsychotic prescription between 2015‐2016 and followed up until 2019, in Catalonia (Spain). Four strategies were proposed for selecting the recommended dosing in overlapping prescription periods for the same patient and antipsychotic drug: (i) the minimum dosing prescribed; (ii) the dose corresponding to the latest prescription issued; (iii) the highest dosing prescribed; and (iv) all doses included in the overlapped period. For each strategy, one treatment episode per patient was selected, and the Continuous Medication Availability measure was used to assess adherence. Descriptive statistics were used to describe results by strategy. Results: Of the 277 324 prescriptions included, 76% overlapped with other prescriptions (40% with different recommended dosing instructions). The number and characteristics of patients and treatment episodes (18 292, 18 303, 18 339 and 18 536, respectively per strategy) were similar across strategies. Mean adherence was similar between strategies, ranging from 57 to 60%. However, the proportion of patients with adherence ≥90% was lower when selecting all doses (28%) compared with the other strategies (35%). Conclusion: Despite the high prevalence of overlapping prescriptions, the strategies proposed did not show a major effect on the adherence estimates for antipsychotic treatment. Taking into consideration the particularities of antipsychotic prescription practices, selecting the highest dose in the overlapped period seemed to provide a more accurate adherence estimate. [ABSTRACT FROM AUTHOR]

Objective: Cardio‐facio‐cutaneous syndrome (CFC) is a genetic disorder due to variants affecting genes coding key proteins of the Ras/MAPK signaling pathway. Among the different features of CFC, neurological involvement, including cerebral malformations and epilepsy, represents a common and clinically relevant aspect. Status epilepticus (SE) is a recurrent feature, especially in a specific subgroup of CFC patients with developmental and epileptic encephalopathy (DEE) and history of severe pharmacoresistant epilepsy. Here we dissect the features of SE in CFC patients with a particular focus on longitudinal magnetic resonance imaging (MRI) findings to identify clinical‐radiological patterns and discuss the underlying physiopathology. Methods: We retrospectively analyzed clinical, electroencephalogram (EEG), and MRI data collected in a single center from a cohort of 23 patients with CFC carrying pathogenic BRAF variants who experienced SE during a 5‐year period. Results: Seven episodes of SE were documented in 5 CFC patients who underwent EEG and MRI at baseline. MRI was performed during SE/within 72 hours from SE termination in 5/7 events. Acute/early post‐ictal MRI findings showed heterogenous abnormalities: restricted diffusion in 2/7, focal area of pcASL perfusion change in 2/7, focal cortical T2/FLAIR hyperintensity in 2/7. Follow‐up images were available for 4/7 SE. No acute changes were detected in 2/7 (MRI performed 4 days after SE termination). Significance: Acute focal neuroimaging changes concomitant with ictal EEG focus were present in 5/7 episodes, though with different findings. The heterogeneous patterns suggest different contributing factors, possibly including the presence of focal cortical malformations and autoinflammation. When cytotoxic edema is revealed by MRI, it can be followed by permanent structural damage, as already observed in other genetic conditions. A better understanding of the physiopathology will provide access to targeted treatments allowing to prevent long‐term adverse neurological outcome. Plain Language Summary: Cardio‐facio‐cutaneous syndrome is a genetic disorder that often causes prolonged seizures known as status epilepticus. This study has a focus on electroclinical and neuroimaging patterns in patients with cardio‐facio‐cutaneous syndrome. During these status epilepticus episodes, we found different abnormal brain imaging patterns in patients, indicating various causes like brain malformations and inflammation. Understanding these patterns could help doctors find specific treatments, protecting cardio‐facio‐cutaneous syndrome patients from long‐term brain damage. [ABSTRACT FROM AUTHOR]

During the past two decades, a high mortality of coconut palms was observed in the coastal areas of Equatorial Guinea. Reportedly, the palm population has been reduced by 60%–70%, and coconut production has decreased accordingly. To identify the cause of the mortality, a survey was carried out in April 2021 in various localities of the coconut belt. Molecular analyses carried out on 16S rRNA and secA genes detected phytoplasma presence in the majority of the samples. Sequencing and BLAST search of the 16S rRNA gene sequences showed >99% identity of the detected phytoplasmas to 'Candidatus Phytoplasma palmicola'. The RFLP analyses of 16S ribosomal gene using Tru1I and TaqI enzymes led to assign these phytoplasmas to subgroup 16SrXXII‐A. In all samples that tested positive, including one from a hybrid coconut palm and two from oil palm the same phytoplasma was identified. The phylogenetic analyses of 16S rRNA and secA genes confirmed respectively 99.98%–100% and 97.94%–100% identity to 'Ca. P. palmicola'. RFLP analyses using MboII enzyme on the secA gene amplicon differentiated the phytoplasma found in Equatorial Guinea from those present in Ghana and Ivory Coast. The Equatorial Guinean phytoplasma strain resulted to be identical to the strains from Mozambique, confirming the presence of a geographic differentiation among phytoplasma strains in the coastal areas of Western and Central Africa. The identified phytoplasma is different from the 'Ca. P. palmicola' strains found in Ghana and Ivory Coast and represents the first identification a 16SrXXII‐A strain in Equatorial Guinea and in Central Africa. Strict monitoring and surveillance procedures for early detection of the pathogen are strongly recommended to reduce its impact and further spread in the country and permit the recovery of coconut plantations. [ABSTRACT FROM AUTHOR]

To assess (i) the prevalence of oral colonization by Candida spp. in patients with psoriasis and (ii) the prevalence of oral lesions associated with Candida spp. in patients with psoriasis and identify the risk factors for oral lesions. A systematic review was conducted in accordance with PRISMA criteria. The PROSPERO registration code is CRD42019127178. PubMed, Scopus and Web of Science were used as search engines. Meta‐analyses and trial sequential analyses were performed. Among the 5805 retrieved records, nine articles were included. Among 530 psoriatic patients, 255 patients had an oral Candida spp. colonisation with an odds ratio (OR) = 3.44 (95% CI:2.38–5.00). Among 490 psoriatic patients, 43 patients developed oral Candida spp. lesions with an OR = 5.31 (95% CI:1.04–27.23). Among the patients without the main predisposing factors for infections, psoriatic patients had a higher OR (3.48, 95% CI: 2.0–6.0) for Candida spp. colonization, but not for Candida spp. infection, when compared with healthy controls (p‐value > 0.05). Meta‐analysis showed a higher risk of Candida spp. colonisation in patients with psoriasis. Patients who received immunosuppressive therapies were also at higher risk of developing oral lesions. Further studies are needed to understand these associations. [ABSTRACT FROM AUTHOR]

Dispersion corrected density functional theory calculations show that the presence of H2O in the Reduction Half‐Cycle (RHC) of NH3‐SCR affects the free energy of the kinetically‐relevant transition state (TS) leading to a reduction in the rate and activation energy with respect to dry conditions. In particular, H2O enthalpically stabilizes the kinetically‐relevant TS by 20 kJ mol−1 with respect to the dry counterpart. Such enthalpic stabilization vanishes when van der Waals (vdW) interactions are excluded from the calculations, thus showing the preeminent role of non‐specific dispersion forces in the reduction of the activation enthalpy. At the same time, the enthalpic stabilization is more than compensated by the additional entropy losses of the TS brought forth by the presence of H2O in the CHA cage. Calculated enthalpy and entropy changes with respect to the dry case agree quantitatively with the experimental measurements and reflect the modified reacting environment in the presence of H2O. As a result, this study provides theoretical underpinnings on the mechanistic role of H2O in the RHC and, on a more general basis, highlights the importance of the molecular scale description of the reaction environment in voids of molecular dimensions. [ABSTRACT FROM AUTHOR]

The immobilization of copper‐containing nitrite reductase (NiR) from Alcaligenes faecalis on functionalised multi‐walled carbon nanotube (MWCNT) electrodes is reported. It is demonstrated that this immobilization is mainly driven by hydrophobic interactions, promoted by the modification of MWCNTs with adamantyl groups. Direct electrochemistry shows high bioelectrochemical reduction of nitrite at the redox potential of NiR with high current density of 1.41 mA cm−2. Furthermore, the desymmetrization of the trimer upon immobilization induces an independent electrocatalytic behavior for each of the three enzyme subunits, corroborated by an electron‐tunneling distance dependence. [ABSTRACT FROM AUTHOR]

An original 1‐acetato‐4‐(1‐pyrenyl)‐1,4,7‐triazacyclononane (AcPyTACN) was synthesized for the immobilization of a His‐tagged recombinant CODH from Rhodospirillum rubrum (RrCODH) on carbon‐nanotube electrodes. The strong binding of the enzyme at the Ni‐AcPyTACN complex affords a high current density of 4.9 mA cm−2 towards electroenzymatic CO2 reduction and a high stability of more than 6×106 TON when integrated on a gas‐diffusion bioelectrode. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to test the efficacy of autoantibodies to desmoglein 1 and desmoglein 3 detected by ELISA and indirect immunofluorescence in the diagnosis of oral pemphigus and to correlate the antibody titres with the severity of the disease. Materials and Methods: We report a retrospective cohort study of 22 patients with oral pemphigus and 64 controls from a single tertiary centre. Data about histopathological examination, direct immunofluorescence, indirect immunofluorescence and ELISA were analysed. Global validation of ELISA and IIF both alone and combined was established by calculating sensitivity, specificity, accuracy and both positive predictive value and negative predictive value. The relationship between Oral Disease Severity Score values and ELISA titres was analysed using Pearson's coefficient. Results: The best diagnostic performance was observed for anti‐desmoglein 3 ELISA. The sensitivity was 75% and specificity 100% and positive predictive value and negative predictive value were 92.5% and accuracy 93.9%. The level of agreement with histopathology + direct immunofluorescence was substantial (k =.758). Anti‐desmoglein 3 titres showed a significant correlation with Oral Disease Severity Score (p <.05). Conclusions: Serological tests are commonly employed during clinical practice as adjunctive tools. Anti‐desmoglein 3 ELISA should be considered as a first‐instance diagnostic test for oral pemphigus early detection. [ABSTRACT FROM AUTHOR]

Summary: At present, 96% of the resources available into the World‐Wide‐Web belongs to the Deep Web, which is composed of contents that are not indexed by search engines. The Dark Web is a subset of the Deep Web, which is currently the favorite place for hiding illegal markets and contents. The most important tool that can be used to access the Dark Web is the Tor Browser. In this article, we propose a bottom‐up formal investigation methodology for the Tor Browser's memory forensics. Based on a bottom‐up logical approach, our methodology enables us to obtain information according to a level of abstraction that is gradually higher, to characterize semantically relevant actions carried out by the Tor browser. Again, we show how the proposed three‐layer methodology can be realized through open‐source tools. Also, we show how the extracted information can be used as input to a novel Artificial Intelligence‐based architecture for mining effective signatures capable of representing malicious activities in the Tor network. Finally, to assess the effectiveness of the proposed methodology, we defined three test cases that simulate widespread real‐life scenarios and discuss the obtained results. To the best of our knowledge, this is the first work that deals with the forensic analysis of the Tor Browser in a live system, in a formal and structured way. [ABSTRACT FROM AUTHOR]

Background: Human Papillomavirus (HPV) role in oral potentially malignant lesions remains unclear. Aims of this study were to evaluate the prevalence of HPV infection in a cohort of patients affected by oral lichen planus, to analyze the genotypes involved, and to compare the performance of two specimen collection methods: brushing and biopsy. Methods: Consecutive patients with oral lichen planus were enrolled. Each patient's clinical and anamnestic data were recorded before he/she underwent brushing and biopsy procedures. The collected samples were analyzed using RT‐PCR. Prevalence of HPV infection was evaluated considering cytobrush and biopsy outcomes alone and combined. Correlation between HPV presence and sex, age, smoke, alcohol, kind of lichen planus, Hepatitis C virus, and involved mucosae was analyzed using chi‐square test (significance at P <.05). Cohen's k coefficient was employed to compare brushing and biopsy. Results: Fifty‐two patients affected by oral lichen planus were enrolled. Total HPV prevalence was 17%, when considering only the biopsy and the cytobrush the prevalence was 15% and 6%, respectively. None of the considered variables showed significant correlation with HPV (P >.05). The concordance between the two methods was "fair" (k =.305). Conclusions: The biopsy appears more reliable than cytobrush to detect HPV in course of oral lichen planus. No statistical correlation emerged with the analyzed variables. The most frequently detected genotypes were HPV 6 and 11, while only two cases presented with HPV 16 and 53, known as human oncogenic. [ABSTRACT FROM AUTHOR]

The inhibition of urease from Sporosarcina pasteurii (SPU) and Canavalia ensiformis (jack bean, JBU) by a class of six aromatic poly‐hydroxylated molecules, namely mono‐ and dimethyl‐substituted catechols, was investigated on the basis of the inhibitory efficiency of the catechol scaffold. The aim was to probe the key step of a mechanism proposed for the inhibition of SPU by catechol, namely the sulfanyl radical attack on the aromatic ring, as well as to obtain critical information on the effect of substituents of the catechol aromatic ring on the inhibition efficacy of its derivatives. The crystal structures of all six SPU‐inhibitors complexes, determined at high resolution, as well as kinetic data obtained on JBU and theoretical studies of the reaction mechanism using quantum mechanical calculations, revealed the occurrence of an irreversible inactivation of urease by means of a radical‐based autocatalytic multistep mechanism, and indicate that, among all tested catechols, the mono‐substituted 3‐methyl‐catechol is the most efficient inhibitor for urease. [ABSTRACT FROM AUTHOR]

In this study, two different cold atmospheric‐pressure plasmas are used for the production of plasma‐activated water (PAW). To evaluate the effectiveness of PAW as a possible means to control plant diseases, grapevines in an open field and a greenhouse are treated, evaluating qualitative and quantitative yield parameters, phytoplasma presence, and gene expression. The results show the capability of PAW to enhance plant defense mechanisms and, as demonstrated in the field trials, confirm its ability to improve the health status of the treated plants. [ABSTRACT FROM AUTHOR]

Objective: The Early Childhood Oral Health Impact Scale (ECOHIS) is a questionnaire to elucidate the relationship between parental perception of the quality of life of their preschool children and their oral health status. Aim of the present work was to validate an Italian ECOHIS version and review the literature. Methods: After adapting the original ECOHIS questionnaire from English to Italian (I‐ECOHIS), I‐ECOHIS was administered to parents of children afferent to the Dental Clinic of the University of Campania "Luigi Vanvitelli," regardless of age. Children under 6 years of age underwent anamnestic survey and physical examination, to correlate the dmft index with the ECOHIS score. Results: 366 children have come to our observation. I‐ECOHIS was administered to all parents to establish its comprehensibility. 87 children (44 females and 43 males) under 6 years (5.2 ± 1.4 years) underwent dmft evaluation to determine I‐ECOHIS/oral health status correlation. Among the 87 children examined, the higher total score reached was 25/50. ANOVA analysis confirmed statistically significant correlations between ECOHIS score and dmft = 0 vs dmft equal/higher than 4. Conclusion: The present pilot study validated the I‐ECOHIS questionnaire and revealed to be a good tool to distinguish children without caries experience from those with a high dmft. However, it was not correlated with the intermediate dmft level, thus confirming the importance of screening for caries. [ABSTRACT FROM AUTHOR]

In July 2017, a survey was conducted in a fig collection plot at Locorotondo (south of Italy) to investigate the possible presence of phytoplasmas in plants showing yellowing, deformed leaves, short internodes, mottling and mosaic. Samples were collected from symptomatic plants and tested by nested PCR assays using universal and specific primers to amplify the 16S rDNA of these prokaryotes. PCR results detected the presence of phytoplasma sequences in twenty plant samples that resulted clustering two phylogenetically distinct phytoplasmas, i.e., "Candidatus Phytoplasma asteris" and "Candidatus Phytoplasma solani" affiliated to 16SrI and 16SrXII ribosomal groups, respectively. The presence of phytoplasmas belonging to both ribosomal groups was confirmed with group specific quantitative PCR and RFLP assays on 16S ribosomal amplicons. Results of this study indicate for the first time the occurrence of phytoplasmas in fig; however, more work should be carried out to verify their association with the symptoms observed on diseased fig plants. [ABSTRACT FROM AUTHOR]

Background: Oral squamous cell carcinoma (OSCC) accounts for more than 90% of oral epithelial malignancies and often arises from precursor lesions, whose diagnosis is based on biopsy and histopathology. In vivo reflectance confocal microscopy (RCM) images the vital tissues at microscopic resolution, well correlating with conventional histopathology, but it is poorly investigated in oral oncology. The present work aims to describe RCM cytoarchitectural findings in oral mucosae affected by OSCC and its precursors. Materials and Methods: A series of clinically suspected oral lesions underwent RCM imaging before conventional biopsy and histopathological assessment in order to identify features suggestive of tumoral changes. Sensitivity (SE), specificity (SP), positive and negative predictive values (PPV and NPV) of RCM compared to histopathology were calculated. Results: Totally, 30 sites in 20 patients were considered and clinically classified into 16 "leukoplakia"/" traumatism", nine erosive‐ulcerative lesions, three verrucous lesions, and two healthy mucosae, as control. The histopathological "positivity," due to the presence of various degrees of dysplasia and/or neoplasia, was found in 11 lesions; the RCM "positivity" was referred to nine lesions reporting the RCM detection of polymorphism, multinucleated cells, irregular cellular maturation, altered nuclear/cytoplasm ratio, and abnormal blood vessels. After excluding three verrucous lesions from the RCM analysis, due to the low laser penetration through the hyperkeratotic layers, the results well correlated with histopathology, reporting 1.000 (SE), 0.933 (SP), 0.909 (PPV), and 1.000 (NPV). Conclusion: RCM can reveal dysplastic/neoplastic signs occurring in oral lesions, thus supporting their diagnostic pathway. [ABSTRACT FROM AUTHOR]

Background: In vivo reflectance confocal microscopy (RCM) is an imaging technique that can virtually biopsy vital tissues, noninvasively and in real time. It results in horizontal virtual slices at a microscopic resolution that correlates well with conventional histopathology. Despite the widespread use of RCM in dermatology, it is still rarely applied to the study of oral pathologies. The aim of the present work is to describe RCM cellular and architectural findings in oral mucosae affected by oral lichen planus (OLP). Materials and Methods: A series of conventionally diagnosed OLP lesions underwent RCM imaging with a portable reflectance confocal microscope that could scan from the surface to the submucosa. The confocal findings were collected, described, and compared with the literature. Results: A total of 31 oral sites affected by OLP in 12 patients were considered. According to their clinical appearance, 22 lesions showed a reticular‐plaque pattern, six lesions were mainly atrophic‐erosive, and the remaining three presented a mixed pattern. RCM examination showed hypergranulosis, epithelial disarray, spongiosis, necrotic keratinocytes, epithelial and subepithelial inflammatory cell infiltration, and dilated vessels; all findings were in lichen planus, with differences noted between the "white" and "red" manifestations of this pathology. Conclusions: The use of RCM in routine clinical oral pathology tests is recommended to avoid recurrence of OLP and changes in its responsiveness to therapy, thus limiting the need for biopsy of lesions suspected of tumoral changes. [ABSTRACT FROM AUTHOR]

The article discusses the association between COVID-19 and oral lesions. Topics include main pathogenic mechanisms potentially implied in the onset of oral lesions following the COVID-19 vaccination, typical phenotypes reported for mucocutaneous hypersensitivity reactions, and how COVID-19 vaccines could act similarly to psychophysical stress or hormonal changes.

The dietary protein role in different clinical nutritional conditions and some physio-pathological perspectives is a current and hot topic to discuss. Recent Proceedings of the Protein Summit 2, joining more than 60 nutrition scientists, health experts, and nutrition educators, suggest to increase plant but, in particular, animal protein intake because richer in leucine and consequently more effective to influence anabolic protein metabolism. The Panel conclusions are in apparent contradiction with the nutritional ecology statements, which strongly sustain the reduction of animal origin foods in the human diet and are currently concerned about the excessive, mainly animal protein intake in western and westernized Countries. In conclusion, it is time to carefully evaluate protein and aminoacid intake accurately considering quality, digestibility, daily distribution and individual characteristics. [ABSTRACT FROM AUTHOR]

Surveys for the Côte d'Ivoire lethal yellowing ( CILY) phytoplasma were conducted in eight severely CILY-affected villages of Grand-Lahou in 2015. Leaves, inflorescences and trunk borings were collected from coconut palms showing CILY symptoms and from symptomless trees. Total DNA was extracted from these samples and tested by nested polymerase chain reaction/ RFLP and sequence analysis of the 16S rRNA, ribosomal protein ( rp) and the translocation protein ( secA) genes. The CILY phytoplasma was detected in 82.9% of the symptom-bearing palms collected from all the surveyed villages and from all the plant parts. Trunk borings were recommended as the most suitable plant tissue type for sampling. Results indicate that the CILY phytoplasma may have a westward spread to other coconut-growing areas of Grand-Lahou. CILY phytoplasma strains infecting coconut palms in the western region of Grand-Lahou exhibited unique single nucleotide polymorphisms on the rp sequence compared to the strains from the eastern region. Moreover, single nucleotide polymorphisms on the SecA sequence distinguished the CILY phytoplasma from the Cape St. Paul Wilt Disease phytoplasma in Ghana, and the Lethal Yellowing phytoplasma in Mozambique. [ABSTRACT FROM AUTHOR]

Symptoms resembling those associated with phytoplasma presence were observed in pomegranate ( Punica granatum L.) trees in June 2012 in the Aegean Region of Turkey (Aydın province). The trees exhibiting yellowing, reduced vigour, deformations and reddening of the leaves and die-back symptoms were analysed to verify phytoplasma presence. Total nucleic acids were extracted from fresh leaf midribs and phloem tissue from young branches of ten symptomatic and five asymptomatic plants. Nested polymerase chain reaction assays using universal phytoplasma-specific 16S rRNA and tuf gene primers were performed. Amplicons were digested with Tru1I, Tsp509I and HhaI restriction enzymes, according to the primer pair employed. The phytoplasma profiles were identical to each other and to aster yellows (16SrI-B) strain when digestion was carried out on 16Sr(I)F1/R1 amplicons. However, one of the samples showed mixed profiles indicating that 16SrI-B and 16Sr XII-A phytoplasmas were present when M1/M2 amplicons were digested, the reamplification of this sample with tuf cocktail primers allowed to verify the presence of a 16Sr XII-A profile. One pomegranate aster yellows strain AY- PG from 16S rRNA gene and the 16Sr XII-A amplicon from tuf gene designed strain STOL- PG were directly sequenced and deposited in GenBank under the Accession Numbers KJ818293 and KP161063, respectively. To our knowledge, this is the first report of 16SrI-B and 16Sr XII-A phytoplasmas in pomegranate trees. [ABSTRACT FROM AUTHOR]

Objective Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome ( WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K+/H+ exchange and in Ca2+ homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside. Methods Comparison of our three unusual 4p16.3 deletions with 13 literature reports. Array-comparative genomic hybridization (a-CGH). Real-time polymerase chain reaction (RT-PCR) on messanger RNA (mRNA) of LETM1 and CPLX1. Direct sequencing of LETM1. Results Three unusual 4p16.3 deletions were detected by array- CGH in absence of a obvious clinical diagnosis of WHS. Two of these, encompassing LETM1, were found in subjects who never had seizures. The deletions were interstitial, spanning 1.1 Mb with preservation of the terminal 1.77 Mb region in one case and 0.84 Mb with preservation of the terminal 1.07 Mb region in the other. The other deletion was terminal, affecting a 0.564 Mb segment, with preservation of LETM1, and it was associated with seizures and learning difficulties. Upon evaluating our patients along with literature reports, we noted that six of eight subjects with terminal 4p deletions preserving LETM1 had seizures, whereas seven of seven with interstitial deletions including LETM1 and preserving the terminal 1 Mb region on 4p did not. An additional chromosome region for seizures is suggested, falling within the terminal 1.5 Mb on 4p, not including LETM1. Significance We consider that haploinsufficiency not limited to LETM1 but including other genes acts as a risk factor for the WHS-associated seizure disorder, according to a comorbidity model of pathogenesis. Additional candidate genes reside in the terminal 1.5 Mb region on 4p, most likely distal to LETM1. A PowerPoint slide summarizing this article is available for download in the Supporting Information section . [ABSTRACT FROM AUTHOR]

Mitochondrial DNA (mtDNA) haplogroups have been associated with the expression of mitochondrial-related diseases and with metabolic alterations, but their role has not yet been investigated in morbid obese Caucasian subjects. Therefore, we investigated the association between mitochondrial haplogroups and morbid obesity in patients from southern Italy. The mtDNA D-loop of morbid obese patients (n = 500; BMI > 40kg/m²) and controls (n = 216; BMI < 25 kg/m²) was sequenced to determine the mtDNA haplogroups. The T and J haplogroup frequencies were higher and lower, respectively, in obese subjects than in controls. Women bearing haplogroup T or J had twice or half the risk of obesity. Binomial logistic regression analysis showed that haplogroup T and systolic blood pressure are risk factors for a high degree of morbid obesity, namely, BMI > 45 kg/m² and in fact together account for 8% of the BMI. In conclusion, our finding that haplogroup T increases the risk of obesity by about two-fold, suggests that, besides nuclear genome variations and environmental factors, the T haplogroup plays a role in morbid obesity in our study population from southern Italy. [ABSTRACT FROM AUTHOR]

Background Lichen planus (LP) represents a relatively common skin inflammatory entity included in the major group of interface dermatitis. In recent years, reflectance confocal microscopy has demonstrated to be a valuable tool for the ' in vivo' characterization of various skin diseases with cellular level resolution. No data are currently available that uses reflectance confocal microscopy to study LP. Observations In this study, we have investigated the clinical and confocal features of five cases of histopathologically proven LP, and we have correlated the observed features with histopathological findings. The most characteristic criterion was the presence of interface dermatitis. Papillary rims, usually visible in normal skin, were obscured by the presence of a diffuse inflammatory cells infiltrate, arranged in sheet-like structures that surrounded the junction almost completely. There was an almost total obliteration of the ring-like structures around DP, which appeared non-edged and non-rimmed. Granular cells appeared as very large, polygonal structures, with an evident grainy cytoplasm, with the transition between spinous and granular cells being clearly recognizable, and this feature corresponded to hypergranulosis in histology. The presence of inflammatory cells at the level of the epidermis was seen as round-to-polygonal bright structures in the context of a variable degree of epidermal disarray and spongiosis. Melanophages in dermis were visible as brightly refractile, plump, oval to stellate-shaped cells. Prominent round or linear dark canalicular structures corresponded to dilated blood vessels in the superficial dermis on histopathology and appeared horizontally oriented in confocal sections. Conclusions Reflectance confocal microscopy may represent a real-time, non-invasive aid to clinical diagnosis of LP. However, it might be difficult to distinguish between different subtypes of interface dermatitis. Further research, including larger case series, will better define a possible differential diagnosis of these diseases using confocal microscopy. [ABSTRACT FROM AUTHOR]

'At-risk' severely obese subjects are characterized by insulin resistance, and higher visceral fat and plasma lipid levels compared with metabolically healthy obese (MHO) subjects, although both groups have a high BMI and fat mass. The aim of this study was to measure several serum adipokines and gastrointestinal hormones in a young severely obese population from Southern Italy to identify biochemical markers of the 'at-risk' insulin-resistant obese profile. We studied 160 unrelated white young adults (mean age = 25.2 years, mean BMI = 44.9 kg/m2, 65% women) affected by obesity for at least 5 years. Serum concentrations of glucagon, ghrelin, gastric inhibitory peptide, glucagon like peptide-1, interleukin-6, tumor necrosis factor α, leptin, adiponectin, adipsin, and visfatin were measured. The leptin/adiponectin (L/A) ratio and fatty liver index (FLI) were calculated. We found a prevalence of 21.3% of MHO patients in our young severely obese patients. At univariate analysis, the 'at-risk' group had higher mean levels of BMI (P < 0.0001), leptin (P = 0.039, men) and the L/A ratio (P = 0.003), and lower mean levels of visfatin (P = 0.026) than the MHO group. The L/A ratio, serum triglycerides, and male sex were significantly associated with 'at-risk' obesity and accounted for 19.5% of insulin resistance at multivariate analysis. In conclusion, we demonstrate that a high serum L/A ratio and high levels of serum triglycerides may be markers of 'at-risk' obesity, independent of waist circumference (WC) and BMI, in young severely obese population. [ABSTRACT FROM AUTHOR]

The aim of this study was to assess the onset of forward parachute reaction (FPR) in infants with brain lesions and its correlation with age of walking. FPR was assessed at 6, 9, and 12 months in 140 infants with brain lesions (78 males, 62 females; mean gestational age 31wks; SD 3.6wks; mean birthweight 1450g, SD 252g). On cranial ultrasound 62 infants had mild and 78 had major abnormalities; 86 developed cerebral palsy. All were followed for 5 years, and the age at which each child achieved independent walking was recorded. Infants who had been born small for gestational age (weight <10th centile) were excluded, as were those who had major congenital malformations, severe postnatal infectious diseases, or metabolic or haematological complications. A complete FPR was present in eight infants at 6 months, in 42 at 9 months, and in 71 at 12 months. At 12 months, 29 infants presented incomplete FPR and 40 presented absent FPR. Seventy-three infants were able to walk independently between the ages of 11 months and 60 months (67 with complete FPR and six with incomplete FPR at 12mo). A complete FPR at 12 months was a good predictor of independent walking. The age at onset of complete FPR was also a good predictor of age of walking. The late acquisition of a complete FPR appears to be an early sign of a more general delayed maturation of functional abilities. [ABSTRACT FROM AUTHOR]

Verrucous carcinoma (also known as Ackerman tumor) is an uncommon exophytic low-grade well-differentiated variant of squamous cell carcinoma. This neoplasm typically involves the oral cavity, larynx, genitalia, skin, and esophagus. It is well known for its locally aggressiveness and for its clinically slow-growing behaviour with minimal metastatic potential. Verrucous carcinoma of oral cavity is so closely aligned with the use of snuff and chewing tobacco that it has been called the "snuff dipper's cancer". Recent studies have proved the role of HPV. The typical clinical presentation of oral verrucous carcinoma has long been known, as its remarkably innocuous appearance and biological behaviour. In this work, we report a review of the scientific literature and describe a troublesome case of oral verrucous cancer. [ABSTRACT FROM AUTHOR]

Objectives: The aim of the present study was to examine the behaviour of human bone marrow-derived mesenchymal stem cells (BM-MSC) to fluoride-modified grit-blasted (F-TiO) titanium surfaces compared with grit-blasted ones (TiO). Material and methods: Implant surfaces were analysed by atomic force microscopy (AFM) and scanning electron microscopy (SEM). BM-MSC were isolated from healthy donors and grown on the implant surfaces. Cell adhesion and proliferation, type I collagen (Col I) synthesis, osteoblastic differentiation (in terms of alkaline phosphatase activity, osteocalcin synthesis and extracellular matrix mineralization) were assessed. Furthermore, the ability to affect the osteoblastic/osteoclastic balance in terms of osteoprotegerin (OPG) and activator of nuclear factor κ B ligand (RANKL) ratio was investigated. Results: F-TiO surface showed higher Sa values ( P<0.05) and the presence of nano-scale structures at the AFM and SEM analysis. Comparable cell morphology and similar adhesion values on both surfaces were detected at early time, whereas higher proliferation values on F-TiO samples were observed at 7 and 10 days. Increased Col I and OPG levels for cells grown on F-TiO were found, whereas RANKL was not detectable in any of the conditioned media. BM-MSC showed a similar expression of early and late osteogenic markers on both TiO and F-TiO surfaces. Conclusions: The results of the present study show that the chemical and micro/nano-scale modifications induced by fluoride treatment of TiO-grit blasted surfaces stimulate the proliferation and the extracellular matrix synthesis by BM-MSC, as well as the increase of OPG synthesis, thus preventing osteoclast activation and differentiation. To cite this article: Guida L, Annunziata M, Rocci A, Contaldo M, Rullo R, Oliva A. Biological response of human bone marrow mesenchymal stem cells to fluoride-modified titanium surfaces. Clin. Oral Impl. Res. 21, 2010; 1234-1241. doi: 10.1111/j.1600-0501.2010.01929.x [ABSTRACT FROM AUTHOR]

Granulocyte apoptosis is a key control process in the clearance of neutrophils from inflammatory sites, and its rate is modulated by a number of inflammatory mediators. In this study, we investigated whether the use of left ventricular-assisted technique (LVA) in beating heart myocardial revascularization would exert less impact on neutrophil apoptosis compared with conventional cardiopulmonary bypass (CPB). Forty consecutive patients who underwent myocardial revascularization were randomly assigned to LVA (group A, 21 patients) or CPB (group B, 19 patients). Blood samples for detection of interleukin-6, interleukin-8, and tumor necrosis factor-α were measured at baseline and at various time points postoperatively. Neutrophil apoptosis was detected by light microscopy as well as by the annexin-V assays together with the activity of caspase 3 on postoperative samples. Preoperative clinical and demographic data did not differ between the two groups. The two groups also were similar with respect to mortality, number of grafts performed, duration of extracorporeal circulation, and need for inotropes. However postoperatively, spontaneous apoptosis was significantly delayed in neutrophils from CPB patients compared with LVA patients. Neutrophils were activated, as indicated by increased surface expression of CD11b. Caspase 3 activity was found to be significantly reduced in neutrophils from CPB patients after 18 and 24 hours of culture. Patients who underwent beating heart myocardial revascularization with LVA show a better preserved neutrophil apoptosis than patients treated with the CPB. [ABSTRACT FROM AUTHOR]

During a survey in a limited area of the Shanxi province in China, phytoplasma symptoms were observed on woody plants such as Chinese scholar tree, apple, grapevine and apricot. The polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) analyses on the phytoplasma 16S ribosomal gene confirmed that symptomatic samples from all these species were infected by phytoplasmas. The molecular characterization of the pathogen, performed also with sequencing of polymerase chain reaction amplified 16S rDNA, showed that the phytoplasmas detected in all plant species tested are closely related with stolbur, but two samples from a Chinese scholar tree were infected with phytoplasmas related to ‘ Candidatus Phytoplasma japonicum’. The presence of RFLP polymorphism was found in the 16S rDNA amplicons with three of the six enzymes employed in the majority of phytoplasma strains studied. [ABSTRACT FROM AUTHOR]

Objective: The present study aimed to evaluate serum liver enzymes in underweight outpatients with anorexia nervosa (A-NERV) or eating disorders not otherwise specified (EDNOS). Method: Serum alanine amino transferase (ALT), aspartate amino transferase (AST), lactic dehydrogenase (LDH), gamma glutamyl transferase (GGT), alkaline phosphatase (ALP), and cholinesterase (CHE) were determined in 97 patients with A-NERV, 66 patients with EDNOS, and 56 controls. Results: In the A-NERV group AST, LDH, and GGT were higher, as compared with controls, and inversely related to weight, while ALP and CHE were lower. AST and GGT increased and CHE decreased in patients with EDNOS. Hypertransaminasemia occurred in 14.4 and 15.2%, and low CHE in 29.9% of the A-NERV group and 13.6% and EDNOS group, respectively. Three or more abnormalities were found in 9.3% of patients with A-NERV and 7.5% of those with EDNOS. Conclusion: Abnormalities in serum liver enzymes are common in outpatients with eating disorders plus underweight. CHE might be considered as a marker of the effects of primary malnutrition on liver function. © 2007 by Wiley Periodicals, Inc. Int J Eat Disord 2007 [ABSTRACT FROM AUTHOR]

To analyse the association of the UCP2 gene, alone or in combination with the PPARγ2 gene, with obesity. Cross-sectional, case–control study. From a working population of 4500 Italian Caucasian employees of the Italian telephone company participating in a firm-sponsored health screening programme, we selected all those with obesity [ n = 122; body mass index (BMI) ≥ 30 kg/m2]. For each case, three nonobese age- and sex-matched individuals were selected as controls from the same population ( n = 374). Included in the study were also 76 severely obese (BMI ≥ 40 kg/m2) patients consecutively admitted to the obesity clinic of the department. Diabetic individuals were excluded. The −866G/A UCP2 and the Pro12Ala PPARγ2 polymorphisms were determined on genomic DNA of the studied individuals. Several metabolic and anthropometric measures were also obtained, like plasma glucose, insulin, triglycerides, total cholesterol, high-density lipoprotein (HDL) cholesterol and BMI. BMI, plasma glucose, insulin, triglycerides, total and HDL cholesterol were not significantly different in carriers and noncarriers of the −866G/A variant. No significant association was observed between the −866G/A UCP2 gene polymorphism and moderate or severe obesity. This was also observed when the UCP2 polymorphism was analysed in combination with the PPARγ2 polymorphisms. The −866G/A variants of the UCP2 gene are not associated with either obesity or other features of the metabolic syndrome in the studied groups of the Italian population. This negative finding is not modified after a combined analysis of the UCP2 polymorphism and the Pro12Ala polymorphism of PPARγ2. [ABSTRACT FROM AUTHOR]