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Τετάρτη 20 Ιουνίου 2018

German dative case marking in monolingual and simultaneous bilingual children with and without SLI

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Publication date: Available online 20 June 2018
Source:Journal of Communication Disorders
Author(s): Scherger Anna-Lena
This study explores the role of German dative case marking in disentangling effects of specific language impairment (SLI) and bilingualism. Longitudinal data of German-Italian bilingual children with SLI (N = 3) is compared to cross-sectional data (N = 42) of monolingual and bilingual typically developing (TD) children and monolingual children with SLI (ages four and seven). Spontaneous and elicited speech data is analysed in terms of target-like dative case marking in German. Results show differences between the acquisition of case marking of pronouns and of full Determiner Phrases (DPs). Regarding the target-like dative case marking in total, there were no differences found between bilingual TD, monolingual and bilingual children with SLI by the age of four. They demonstrated a similar delay when compared to monolingual TD children. By the age of seven, however, bilingual TD children 'catch up' with their monolingual peers. Children with SLI do not master the acquisition of dative case marking by this age. Cumulative effects of bilingualism and SLI were not found neither in younger nor in older bilingual children. These findings underline the importance of further research on linguistic markers and of distinguishing between effects of SLI and bilingualism.



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Psychopathological consequences of maltreatment among children and adolescents: A systematic review of the GxE literature

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Publication date: Available online 20 June 2018
Source:Research in Developmental Disabilities
Author(s): Dario Maglione, Marcella Caputi, Benedetta Moretti, Simona Scaini
BackgroundIn the last years, several studies focused on the role of Gene-Environment interactions (GxE) in influencing psychopathological outcomes among maltreated children and adolescents. These studies analysed the effect of different genetic variations.AimsThe aim of the present review is to provide an overview of studies investigating GxE effects among maltreated children and adolescents.Methods and ProceduresA systematic literature review was performed by using the following keywords: "Child maltreatment" and "GxE", "Child maltreatment" and "Psychopathology", "Gene-Environment interaction", "Gene-environment correlation", "GxE and psychopathology", "Childhood trauma" and "Psychiatric symptoms", "Early adverse life events", "Early life stress", "Antisocial behaviour", "Depression", "Internalizing symptoms", through the following electronic databases: PubMed, Scopus and PsycINFO, from 2006 to 2017, finding a total of 31 papers.Outcomes and ResultsThe present review confirm that maltreatment produces worse psychopathological outcomes (antisocial behaviour, depression, and other psychiatric traits) in subjects with a specific genetic vulnerability.Conclusions and ImplicationsComprehending the pathways from child maltreatment to psychopathology in their full complexity will be essential to build efficacious preventive and therapeutic protocols.



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Developmental trajectories of executive functions in young males with fragile X syndrome

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Publication date: Available online 20 June 2018
Source:Research in Developmental Disabilities
Author(s): Stephen R. Hooper, Deborah Hatton, John Sideris, Kelly Sullivan, Peter A. Ornstein, Donald B. Bailey
BackgroundExecutive functions (EF) have been identified as impaired in FXS, but few studies have examined their developmental trajectories.AimsThe primary aim of this longitudinal study was to examine the development of EF in young males with FXS compared to Mental Age (MA)-matched controls.Methods and ProceduresThe sample comprised 56 boys with FXS (ages 7–13 years), and 48 MA-matched typical boys (ages 4–8 years). EF tasks included measures of inhibitory control, working memory, cognitive flexibility/set-shifting, problem solving/planning, and processing speed. Tasks were administered at three time points over five-years.Outcomes and ResultsThe MA-Matched Typical boys significantly outperformed the FXS boys on all EF tasks, with the FXS Group showing a pattern of slow, but positive growth on most EF tasks. For working memory tasks, significant interactions were noted between MA and autism symptom severity, and MA and medication status. The probability of task completion increased with higher MA.Conclusions and ImplicationsThese findings contribute to our understanding of the development of EF in this population. They also lay the foundation for use of EF tasks in treatment efforts, particularly with respect to documenting improvements and practice effects, and in understanding associations with targeted developmental outcomes.



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Corrigendum

Journal of Cutaneous Pathology, Volume 45, Issue 7, Page 555-555, July 2018.


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A case of adult onset folliculocentric Langerhans cell histiocytosis

Journal of Cutaneous Pathology, Volume 45, Issue 7, Page 469-472, July 2018.


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Issue Information

Journal of Cutaneous Pathology, Volume 45, Issue 7, July 2018.


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Secretome analysis of alkaliphilic bacterium Bacillus lehensis G1 in response to pH changes

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Publication date: October 2018
Source:Microbiological Research, Volume 215
Author(s): How Lie Ling, Zaidah Rahmat, Farah Diba Abu Bakar, Abdul Munir Abdul Murad, Rosli Md. Illias
Bacillus lehensis G1 is an alkaliphilic bacterium that is capable of surviving in environments up to pH 11. Secretome related to bacterial acclimation in alkaline environment has been less studied compared to cytoplasmic and membrane proteome. The aim of this study was to gain better understanding of bacterial acclimation to alkaline media through analyzing extracellular proteins of B. lehensis. The pH range for B. lehensis growth was conducted, and two-dimensional electrophoresis and MALDI-TOF/TOF MS analysis were conducted to characterize changes in protein profiling in B. lehensis cultured at pH 8 and pH 11 when compared with those cultured at pH 10 (optimal growth pH). B. lehensis could grow well at pH ranging from 8 to 11 in which the bacteria showed to posses thinner flagella at pH 11. Proteomic analyses demonstrated that five proteins were up-regulated and 13 proteins were down-regulated at pH 8, whereas at pH 11, 14 proteins were up-regulated and 8 were down-regulated. Majority of the differentially expressed proteins were involved in the cell wall, main glycolytic pathways, the metabolism of amino acids and related molecules and some proteins of unknown function. A total of 40 differentially expressed protein spots corresponding to 33 proteins were identified; including GlcNAc-binding protein A, chitinase, endopeptidase lytE, flagellar hook-associated proteins and enolase. These proteins may play important roles in acclimation to alkaline media via reallocation of cell wall structure and changes to cell surface glycolytic enzymes, amino acid metabolism, flagellar hook-associated proteins and chaperones to sustain life under pH-stressed conditions.



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Brevibacterium linens RS16 confers salt tolerance to Oryza sativa genotypes by regulating antioxidant defense and H+ ATPase activity

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Publication date: Available online 19 June 2018
Source:Microbiological Research
Author(s): Poulami Chatterjee, Sandipan Samaddar, Ülo Niinemets, Tong-Min Sa
Soil salinity is one of the major limitations that affects both plant and its soil environment, leading to reduced agricultural production. Evaluation of stress severity by plant physical and biochemical characteristics is an established way to study plant-salt stress interaction, but the halotolerant properties of plant growth promoting bacteria (PGPB) along with plant growth promotion is less studied till date. The aim of the present study was to elucidate the strategy, used by ACC deaminase-containing halotolerant Brevibacterium linens RS16 to confer salt stress tolerance in moderately salt-tolerant (FL478) and salt-sensitive (IR29) rice (Oryza sativa L.) cultivars. The plants were exposed to salt stress using 0, 50, and 100 mM of NaCl with and without bacteria. Plant physiological and biochemical characteristics were estimated after 1, 5, 10 days of stress application. H+ ATPase activity and the presence of hydroxyectoine gene (ectD) that is responsible for compatible solute accumulation were also analyzed in bacteria. The height and dry mass of bacteria inoculated plants significantly increased compared to salt-stressed plants, and the differences increased in time dependent manner. Bacteria priming reduced the plant antioxidant enzyme activity, lipid peroxidation and it also regulated the salt accumulation by modulating vacuolar H+ ATPase activity. ATPase activity and presence of hydroxyectoine gene in RS16 might have played a vital role in providing salt tolerance in bacteria inoculated rice cultivars. We conclude that dual benefits provided by the halotolerant plant growth promoting bacteria (PGPB) can provide a major way to improve rice yields in saline soil.



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Restoring NAD(+) Levels with NAD(+) Intermediates, the Second Law of Thermodynamics, and Aging Delay

Rejuvenation Research, Ahead of Print.


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Direct Immunofluorescence as a Helpful Tool for the Differential Diagnosis of Oral Lichen Planus and Oral Lichenoid Lesions

imageAbstract: A great number of lichenoid lesions have overlapping clinicopathological features, so the use of adjunct tests to establish definitive diagnosis is recommended for correct management and prognosis of the lesions. In this context, direct immunofluorescence (DIF) can be a useful tool. Thus, this study aimed to characterize the clinical, histopathological, and DIF pattern in patients with oral lichen planus (OLP) and patients with oral lichenoid lesions (OLLs). Patients with OLP and patients with OLL were characterized and compared with patients with mucous membrane pemphigoid, pemphigus vulgaris, and fibrous hyperplasia through a cross-sectional study. Patients with OLP (n = 30) and patients with OLL (n = 26) were mostly white women in the fifth decade of age, with reticular lesions mainly on the buccal mucosa. All patients with OLP and half of the patients with OLL showed liquefaction degeneration at the basal cell layer and a band-like lymphocytic infiltrate in the subepithelial tissue. Twenty-two patients with OLP (73.3%), 10 with OLL (38.4%), 25 with mucous membrane pemphigoid (96.1%), and all with pemphigus vulgaris (100%) had positive DIF. There was no positive DIF in patients with fibrous hyperplasia. The most frequent DIF pattern in patients with OLP and patients with OLL was linear fibrinogen at the basement membrane zone, and a logistic regression model for positive DIF found statistically significant difference in OLP versus OLL (odds ratio, 3.73; confidence interval, 1.23–11.38). Although clinical and histopathological features are sufficient for diagnosing most of the patients with OLP and OLL, DIF is a key tool in differentiating some lichenoid lesions and could improve the diagnosis of OLP and OLL, especially in lesions showing typical clinical and histological features of OLP.

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Nonhealing Ulcerations of the Breast: Answer

No abstract available

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Cutaneous Metaplastic Carcinoma: Report of a Case With Sebaceous Differentiation

imageAbstract: In this study, a case of a 56-year-old woman with cutaneous metaplastic carcinoma in the neck is reported. It harbored basal cell carcinoma, squamous cell carcinoma, and sebaceous carcinoma, as well as osteosarcoma (with fibroblastic, osteoblastic, aneurysmal bone cyst-like, and chondroblastic patterns). To our knowledge, the literature does not mention sebaceous carcinoma in cutaneous metaplastic carcinoma. Epidemiology and intact mismatch repair proteins of this case support sporadic pathogenesis for this neoplasm. The patient has been followed up for 3 years after surgery with free margins, and no local recurrence or distant metastases have been observed.

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Sebaceous Neoplasms With Rippled, Labyrinthine/Sinusoidal, Petaloid, and Carcinoid-Like Patterns: A Study of 57 Cases Validating Their Occurrence as a Morphological Spectrum and Showing No Significant Association With Muir–Torre Syndrome or DNA Mismatch Repair Protein Deficiency

imageAbstract: Sebaceous neoplasms with an organoid pattern (rippled, labyrinthine/sinusoidal, carcinoid-like, and petaloid) are rare. Previous studies suggested that the above patterns likely represent variations along a morphological continuum. The objectives of this study were to (1) validate this proposition by studying a large number of cases, (2) determine whether there are specific associations with clinical features, (3) establish their frequency, and (4) determine whether they have any association with Muir–Torre syndrome. Fifty-seven sebaceous neoplasms (54 sebaceomas and 3 sebaceous carcinomas) with organoid growth patterns were studied. These occurred in 36 men and 18 women (sex unknown in 3), with ages at diagnosis ranging from 22 to 89 years (mean, 63 years). All patients presented with a solitary nodule (mean size, 11 mm) on the head and neck area. Of the 57 tumors, 24 manifested a single growth pattern, 23 had a combination of 2 patterns, and 10 a combination of 3 patterns, indicating that these patterns are part of a morphological continuum of changes. The carcinoid-like pattern was the most frequent in the "monopatterned" neoplasms (13 cases), whereas the labyrinthine/sinusoidal pattern comprised most of the "polypatterned" lesions, in which various combinations occurred. Immunohistochemically, mismatch repair protein deficiency was detected in 3 of the 22 cases studied, whereas 5 of the 33 patients with available follow-up had an internal malignancy/premalignancy. In conclusion, sebaceous neoplasms with organoid growth patterns are predominantly sebaceomas having a predilection for the scalp, occurring as solitary lesions in elderly patients (male to female ratio of 2:1). Such patterns are expected to be found in a quarter of sebaceomas. In most cases, more than one of the organoid patterns is present. These lesions do not appear to be associated with internal malignancy or mismatch repair deficiency in most cases. However, confirmation of the absence of any significant association with Muir–Torre syndrome syndrome will require genetic studies.

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Immunophenotype Expression Change From CD52+ to CD52− on Erythrodermic Peripheral T-cell Lymphoma, Not Otherwise Specified After Treatment With Alemtuzumab

imageNo abstract available

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Human Papillomavirus–Driven Squamous Lesions: High-Risk Genotype Found in Conjunctival Papillomas, Dysplasia, and Carcinoma

imageBackground: Human papillomavirus (HPV) is a causative agent for intraepithelial squamous neoplasms, particularly on mucosal surfaces. HPV has a well-established association with squamous cell carcinoma (SCC) of the oropharynx and genital tract, and recent studies suggest a potential role in ocular and periocular squamous neoplasms. Multiple high-risk HPV genotypes are associated with histologically similar squamous neoplasms, and some HPV genotypes have been differentially associated with high- or low-grade lesions. Methods: Squamous lesions were screened with immunohistochemical markers p16 and Ki-67 to compare expression in conjunctival papillomas (n = 21) to papillomas with high-grade dysplasia, SCC in situ, and invasive SCC (n = 40). Polymerase chain reaction was performed using the Roche COBAS HPV assay to identify the 14 most common high-risk HPV genotypes. Results: Compared with squamous papillomas, the lesions showing high-grade dysplasia or worse expressed p16 with greater intensity and in a greater percentage of the lesion. A trend toward mild Ki-67 expression in papillomas versus marked Ki-67 expression in high-grade squamous lesions was also observed. HPV-16 was present in 7 of the SCC in situ and invasive SCC lesions but none of the papillomas. Conclusions: HPV may have an important role in squamous lesions of the conjunctiva. In addition to positive polymerase chain reaction results, strong and diffuse p16 expression with marked Ki-67 is strongly suggestive of an HPV-driven lesion.

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Mammary Analog Secretory Carcinoma With ETV6 Rearrangement Arising in the Conjunctiva and Eyelid

imageAbstract: Mammary analog secretory carcinoma (MASC) of salivary gland is a recently described neoplasm that morphologically and immunohistochemically resembles secretory carcinoma of the breast. Genetically, both of them harbor ETV-6-NTRK-3 fusion rearrangement. One case of primary MASCs arising from the eyelid is reported. The patient was a 52-year-old man. Microscopically, the tumor exhibited nodular aggregation of solid, tubular, and microcystic/macrocystic structures. Characteristic "colloid-like" eosinophilic secretory material was present within intraluminal spaces. Immunohistochemically, the tumor cells were positive for mammaglobin, S-100, STAT5a, vimentin, GCDFP-15, AE1/AE3, EMA, and CK7 and were negative for DOG-1, CK5/6, and SMA. A dual color break-apart fluorescence in situ hybridization probe identified rearrangement of the ETV6 gene locus on chromosome 12. The patient had no history of breast or salivary gland tumor. The tumor was completely excised, and the patient has no evidence of recurrent disease or metastasis after 1-year follow-up. A diagnosis of primary MASC was rendered. MASC has never been reported occurring in ocular region. This type of secretory carcinoma probably originates from sweat glands or accessory lacrimal glands, Wolfring and Krause. This unique case expands the clinicopathologic landscape of MASCs for better characterization of this rare entity.

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Reappraisal of the Confusing Concept “Trichogerminoma” and the Ill-Defined Finding “Cell Balls”: Clinicopathologic Analysis of 6 Cases of Trichogerminoma and Comparison With 2 Cases of Basal Cell Carcinoma With Cell Ball–Like Features

imageNo abstract available

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Naked Hair Shafts as a Marker of Cicatricial Alopecia

imageAbstract: Naked hair shafts (NHS) are free-floating hair shafts devoid of surrounding epithelium, supporting structures, and/or embedded in inflammation that may result from destruction of hair follicles by scarring processes such as inflammation and fibroplasia. Extensive examination of NHS has not been performed in scalp biopsies of alopecia. We retrospectively evaluated 622 scalp biopsies of alopecia [345 cicatricial alopecias (central centrifugal cicatricial alopecia, lichen planopilaris, discoid lupus erythematosus, acne keloidalis nuchae, and folliculitis decalvans] and 277 non–cicatricial alopecias [alopecia areata, androgenic alopecia, telogen effluvium, and psoriatic alopecia)] for the presence of NHS. NHS occurred in 0.72% (2/277) of non–cicatricial alopecias (1/102 of alopecia areata, 1/150 of androgenic alopecia, 0/17 of telogen effluvium, and 0/8 of psoriatic alopecia) and 20% (72/345) of cicatricial alopecias (27/118 of central centrifugal cicatricial alopecia, 29/109 of lichen planopilaris, 2/75 of discoid lupus erythematosus, 11/16 of acne keloidalis nuchae, and 3/27 of folliculitis decalvans). The presence of NHS was significantly increased in cicatricial alopecias in comparison with non–cicatricial alopecias; P value

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Nonhealing Ulcerations of the Breast: Challenge

imageNo abstract available

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Langerhans Cell Histiocytosis With Clinical and Histologic Features of Hidradenitis Suppurativa: Brief Report and Review

imageAbstract: Langerhans cell histiocytosis (LCH) is an uncommon histiocytic disorder in adults. Clinically, this rare entity can mimic other dermatologic conditions, including hidradenitis suppurativa. A case of LCH is reported with clinical and histologic features of hidradenitis suppurativa, along with a review of these unusual findings. Clinical dermatologists and dermatopathologists benefit from awareness of this unique presentation, which may prompt earlier identification and diagnosis of adult patients with LCH.

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