PAX8 (paired box 8)

Review on PAX8 (paired box 8), with data on DNA, on the protein encoded, and where the gene is implicated

Polyphase folding at upper structural levels in the Borbera valley (Northern Apennines, Italy): implications for the tectonic evolution of the linkage area between Alps and Apennines

The Borbera Valley (northwestern Italy) is located in a complex geological area where the linkage between Alps and Apennines occurs. In this area the Antola Unit (Late Cretaceous–Palaeocene) is unconformably overlain by the Upper Eocene–Miocene succession of the Tertiary Piedmont Basin. The structural analysis indicates the occurrence of a folding phase of Late Oligocene–Early Miocene age, characterised by recumbent F2 folds. These folds are superposed onto D1 structures related to an early folding phase of Middle Eocene, affecting only the Antola Unit. The occurrence of map-scale D2 folding phase structures that affect the Tertiary Piedmont Basin succession suggests that the linkage area between Alps and Apennines was reactivated during the Late Oligocene–Early Miocene

Validation of p53 Immunohistochemistry (PAb240 Clone) in Canine Tumors with Next-Generation Sequencing (NGS) Analysis

In human medicine, p53 immunohistochemistry (IHC) is a common method that is used for the identification of tumors with TP53 mutations. In veterinary medicine, several studies have performed IHC for p53 in canine tumors, but it is not known how well it actually predicts the mutation. The aim of this study was to estimate the accuracy of the IHC method for p53 (clone PAb240) using a lab-developed NGS panel to analyze TP53 mutations in a subset of malignant tumors in dogs. A total of 176 tumors were analyzed with IHC and then 41 were subjected to NGS analysis; among them, 15 were IHC positive and 26 were negative, and 16 out of 41 (39%) were found to be inadequate for NGS analysis. Excluding the non-evaluable cases at NGS, of the remaining eight IHC-positive cases, six were mutants and two were wild-type. Among the 17 IHC-negative cases, 13 were wild type, and 4 were mutants. The sensitivity was 60%, specificity was 86.7%, and the accuracy was 76%. These results suggest that when using IHC for p53 with this specific antibody to predict mutation, up to 25% wrong predictions can be expected

An Unusual Cause of Dementia: Essential Diagnostic Elements of Corticobasal Degeneration—A Case Report and Review of the Literature

Corticobasal degeneration (CBD) is an uncommon, sporadic, neurodegenerative disorder of mid- to late-adult life. We describe a further example of the pathologic heterogeneity of this condition. A 71-year-old woman initially presented dysarthria, clumsiness, progressive asymmetric bradykinesia, and rigidity in left arm. Rigidity gradually involved ipsilateral leg; postural instability with falls, blepharospasm, and dysphagia subsequently developed. She has been previously diagnosed as unresponsive Parkinson's Disease. At our clinical examination, she presented left upper-arm-fixed-dystonia, spasticity in left lower limb and pyramidal signs (Babinski and Hoffmann). Brain MRI showed asymmetric cortical atrophy in the right frontotemporal cortex. Neuropsychological examination showed an impairment in visuospatial functioning, frontal-executive dysfunction, and hemineglect. This case demonstrates that association of asymmetrical focal cortical and subcortical features remains the clinical hallmark of this condition. There are no absolute markers for the clinical diagnosis that is complicated by the variability of presentation involving also cognitive symptoms that are reviewed in the paper. Despite the difficulty of diagnosing CBD, somatosensory evoked potentials, motor evoked potentials, long latency reflexes, and correlations between results on electroencephalography (EEG) and electromyography (EMG) provide further support for a CBD diagnosis. These techniques are also used to identify neurophysiological correlates of the neurological signs of the disease

Early Pain Exposure Influences Functional Brain Connectivity in Very Preterm Neonates

Background: Early exposure to nociceptive events may cause brain structural alterations in preterm neonates, with long-lasting consequences on neurodevelopmental outcome. Little is known on the extent to which early pain may affect brain connectivity. We aim to evaluate brain functional connectivity changes in preterm neonate that underwent multiple invasive procedures during the postnatal period, and to correlate them with the neurodevelopmental outcome at 24 months. Methods: In this prospective case-control study, we collected information about exposure to painful events during the early postnatal period and resting-state BOLD-fMRI data at term equivalent age from two groups of preterm neonate: 33 subjected to painful procedures during the neonatal intensive care (mean gestational age 27.9 \ub1 1.8 weeks) and 13 who did not require invasive procedures (average gestational age 31.2 \ub1 2.1 weeks). A data-driven principal-component-based multivariate pattern analysis (MVPA) was used to investigate the effect of early pain exposure on brain functional connectivity, and the relationship between connectivity changes and neurodevelopmental outcome at 24 months, assessed with Griffiths, Developmental Scale-Revised: 0\u20132. Results: Early pain was associated with decreased functional connectivity between thalami and bilateral somatosensory cortex, and between the right insular cortex and ipsilateral amygdala and hippocampal regions, with a more evident effect in preterm neonate undergoing more invasive procedures. Functional connectivity of the right thalamocortical pathway was related to neuromotor outcome at 24 months (P = 0.003). Conclusion: Early exposure to pain is associated with abnormal functional connectivity of developing networks involved in the modulation of noxious stimuli in preterm neonate, contributing to the neurodevelopmental consequence of preterm birth

Clinical presentation of celiac disease and diagnosis accuracy in a single-center european pediatric cohort over 10 years

(1) Background: Changes in the clinical presentation of celiac disease (CD) in children have been reported. The guidelines of the European Society of Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) allow esophagogastroduodenoscopy (EGD) with biopsies to be avoided under specific circumstances. We aimed to assess the clinical picture of pediatric CD patients at diagnosis and to validate ESPGHAN non-biopsy criteria. (2) Methods: Patients with suspected CD or undergoing screening from 2004 to 2014 at the University Hospital in Modena, Italy were enrolled. The accuracy of ESPGHAN non-biopsy criteria and modified versions were assessed. (3) Results: In total, 410 patients were enrolled, of whom 403 were considered for analysis. Of the patients considered, 45 were asymptomatic and diagnosed with CD (11.2%) while 358 patients (88.2%) were symptomatic, of whom 295 were diagnosed with CD. Among symptomatic CD patients, 57 (19.3%) had gastrointestinal symptoms, 98 (33%) had atypical symptoms and 140 (47.4%) had both. No difference was found for the presence of gastrointestinal symptoms at different ages. The non-biopsy ESPGHAN criteria yielded an accuracy of 59.4% with a positive predictive value (PPV) of 100%; 173 out of 308 EGD (56.2%) could have been avoided. The modified 7× and 5× upper limit of normal cut-offs for IgA anti tissue-transglutaminase reached 60.7% and 64.3% of EGD avoided, respectively. (4) Conclusions: Over 10 years, late age at diagnosis and increased rates of atypical CD presentation were found. ESPGHAN non-biopsy criteria are accurate for CD diagnosis and allow half of unneeded EGD to be avoided. Modified versions allowed sparing a greater number of EGD

Dinâmica espectro-temporal MODIS em plantios de paricá (Schizolobium parahyba var. amazonicum (Huber ex. Ducke) Barneby) associada a diferentes condições hídricas do solo na Amazônia brasileira.

As características de absorção e reflectâncias nas faixas do vermelho e infravermelho próximo em dosséis, tanto de plantios como de vegetação natural, auxiliam na identificação de respostas espectrais em diversas condições de tempo e clima. Objetivou-se avaliar o comportamento espectral em plantios de paricá (Schizolobium parahyba var. amazonicum (Huber ex Ducke) Barneby) nos períodos de maior e de menor oferta hídrica, em Dom Eliseu, Pa. Foram analisados dados meteorológicos, balanços hídricos (CAD=300 mm) e respostas em NDVI (Normalized Difference Vegetation Index) extraídos do sensor MODIS (Moderate Resolution Imaging Spectroradiometer). As imagens-índice referentes aos meses de janeiro a dezembro foram processadas no software Envi 4.5 e retiradas amostras com base em dados de verdade terrestre. Os dados foram analisados estatisticamente, aplicando-se teste de média e análise de perfil por meio de técnicas uni e multivariadas. Verificou-se que existe tendência no vigor do paricá, com decrescimento de 0,85 a 0,68, nos meses de maior deficiência hídrica, em nível de significância de 5 %. Conclui-se que o NDVI respondeu significativamente à condição hídrica do solo, em plantios de paricá, no Estado do Pará

Clinical and Kinematic Features of Valproate-Induced Tremor and Differences with Essential Tremor

Tremor is a common movement disorder that can be induced by medications, including valproate, which is used for the treatment of epilepsy. However, the clinical and neurophysiological features of valproate-induced tremor are still under-investigated. We performed a clinical and kinematic assessment of valproate-induced tremor by considering tremor body distribution and activation conditions. We investigated possible correlations between demographic and clinical data and kinematic features. Valproate-induced tremor results were also compared with those collected in a large sample of patients with essential tremor. Sixteen valproate-induced tremor patients and 93 essential tremor patients were enrolled. All participants underwent a standardised neurological examination and video recording. Patients also underwent an objective assessment of postural, kinetic and rest tremor of the upper limbs and head tremor through kinematic analysis. Nonparametric tests were used for statistical comparisons between the two groups. Clinical evaluation showed a higher occurrence of rest tremor as well as head or voice, and lower limb involvement in patients with valproate-induced tremor. Kinematic analysis showed a substantial variability in the tremor features of patients with valproate-induced tremor. Compared to essential tremor, we found a higher occurrence of rest tremor of the upper limbs and the involvement of more body segments in valproate-induced tremor patients. Valproate-induced tremor has distinctive clinical and kinematic features, which may suggest that valproate interferes with the cerebellar functions

Effects of Oral Administration of Lepidium meyenii on Morphology of Mice Testis and Motility of Epididymal Sperm Cells After Tetrahydrocannabinol Exposure

Background: Tetrahydrocannabinol (THC) administration is associated with testicular damage and reduced semen quality. Oral administration of Lepidium Meyenii (maca) improves spermatogenesis and sperm motility and count and reduces spermatogenic damage. Objectives: The aim of this study was to evaluate the effect of administration of THC, maca, and their combination on testicular tissue and semen parameters. Materials and Methods: Thirty-six-week-old male mice were classified into control, THC, Maca, and THC + Maca groups. The mice were subjected to Eco Color Doppler ultrasound examination of the testicles before and after treatment. After euthanasia, the epididymis, testes, liver, and kidney were collected for histological examination. For morphometry of the testis, tubular diameters and seminiferous epithelium height were measured. Sperm concentration and sperm motilities were assessed. Differences among the groups were assessed using the Kruskal–Wallis and Dunn's post-hoc test. Results: In all the groups, there were no significant changes in testicular morphology before and after treatment. Histological assessment of the testes showed no alterations in control, no significant alterations in Maca, mild to moderate alterations in THC, and mild alterations in THC + Maca groups. Histological examination of the other organs showed no significant differences among the groups. Tubular diameter showed significantly increased thickening for THC and THC + Maca compared with that for Maca and control. Moreover, seminiferous epithelium height decreased for THC compared with that in the control, Maca, and THC + Maca groups. No statistically significant reduction in the spermatogenic index was observed for THC compared with that for Maca and THC + Maca. Epididymal cross-sections of the groups showed no significant alterations. Sperm concentration and motility were higher for control and THC + Maca groups than in group THC and Maca. Conclusion: In vivo maca administration reduced the deleterious effect of THC on testicular parenchyma and semen production

Multifocal Fibrosing Thyroiditis: an Under-recognized Mimicker of Papillary Thyroid Carcinoma

Multifocal fibrosing thyroiditis (MFT) is an enigmatic entity, characterized by multiple fibrotic scar-like lesions with a paucicellular fibrotic center surrounded by a cellular peripheral area with reactive-appearing follicular cell atypia and variable chronic inflammation. Although poorly recognized and likely underreported in surgical pathology, the entity is considered rare with only 65 cases to date–including the current one reported to expand on the preoperative findings of this under-recognized entity. The average age of the patients is 46.8 years (range 15–71 years), 94% are female, with female to male ratio of 15:1. Individual MFT lesions typically have a superficial location. The average number of fibrotic lesions is 15.4 (range 2–51 per MFT case). Their average size is 3.1 mm (range 0.4–15.1). MFT is a disorder of diseased thyroids, typically found postoperatively in glands removed for other reasons, such as chronic lymphocytic/Hashimoto thyroiditis (32.3%), follicular nodular disease (nodular hyperplasia) (30.1%), hyperthyroidism/diffuse hyperplasia (Graves disease) (9.2%). Intriguing is the association with papillary thyroid carcinoma–present in 38.5% of MFT cases, and particularly with sub-centimetric and multifocal papillary thyroid carcinoma, with which MFT can be confused. Cases where MFT is the only thyroid pathology (7.7%) can be preoperatively mistaken for papillary thyroid carcinoma, due to worrisome ultrasound (US) and cytologic features, both of which are here documented for the first time as a component of this article. Wider recognition of MFT and of its cytologic and ultrasound features at preoperative evaluation may reduce unnecessary thyroidectomies