Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling.

Research over the last decade recognized the importance of novel molecular pathways in pathogenesis of intracranial meningiomas. In this review, we focus on human brain tumours meningiomas and the involvement of Wnt signalling pathway genes and proteins in this common brain tumour, describing their known functional effects. Meningiomas originate from the meningeal layers of the brain and the spinal cord. Most meningiomas have benign clinical behaviour and are classified as grade I by World Health Organization (WHO). However, up to 20% histologically classified as atypical (grade II) or anaplastic (grade III) are associated with higher recurrent rate and have overall less favourable clinical outcome. Recently, there is emerging evidence that multiple signalling pathways including Wnt pathway contribute to the formation and growth of meningiomas. In the review we present the synopsis on meningioma histopathology and genetics and discuss our research regarding Wnt in meningioma. Epithelial-to-mesenchymal transition, a process in which Wnt signalling plays an important role, is shortly discussed

Abnormal white matter tracts resembling pencil fibers involving prefrontal cortex (Brodmann area 47) in autism: a case report.

BackgroundAutism is not correlated with any neuropathological hallmark as the brain of autistic individuals lack defined lesions. However, previous investigations have reported cortical heterotopias and local distortion of the cytoarchitecture of the neocortex in some cases of autism.Case presentationOur patient was a 40-year-old white woman diagnosed at an early age with autism and mental retardation. Pencil fibers were present within the prefrontal cortex (Brodmann area 47) and its composition resembled that of the underlying white matter region. Pencil fibers encompassed most of the extent of the cortical grey matter and were populated by oligodendrocytes, astrocytes, and microglial cells, but not by neurons.ConclusionsHere we report a new cytoarchitectural abnormality that has not been previously described in autism. Future pathological examinations should keep in mind the potential presence of pencil fibers within the prefrontal cortex of cases with autism

Chondroblastoma of the Clivus: Case Report and Review.

Background and Importance Chondroblastoma is a benign primary bone tumor that typically develops in the epiphyses of long bones. Chondroblastoma of the craniofacial skeleton is extremely rare, with most cases occurring in the squamosal portion of the temporal bone. In this report, we describe the first case of chondroblastoma of the clivus presenting with cranial neuropathy that was treated with endoscopic endonasal resection. We review the literature on craniofacial chondroblastomas with particular emphasis on extratemporal lesions. Case Presentation A 27-year-old woman presented with severe headache, left facial dysesthesias, and diplopia. Physical examination revealed hypesthesia in the left maxillary nerve dermatome, and complete left abducens nerve palsy. Imaging demonstrated an expansile intraosseous mass originating in the upper clivus with extension superiorly into the sella turcica and laterally to involve the medial wall of the left cavernous sinus. The tumor was completely resected via an endoscopic endonasal approach, with postoperative improvement in lateral gaze palsy. Histopathology was consistent with chondroblastoma. Conclusion Chondroblastoma is a rare tumor of the craniofacial skeleton that should be included in the differential diagnosis of an osteolytic lesion of the clivus. Complete surgical resection remains the mainstay of treatment

A rare case of centronuclear myopathy with DNM2 mutation: genotype–phenotype correlation

Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined. Here, we describe the case of a 17-year-old female who presented with proximal muscle weakness along with congenital anomalous pulmonary venous connection (which has not been described in previous cases of CNM), scoliosis, and lung disease without a significant family history. Her creatine kinase level was normal. Histology, special stains, and electron microscope findings on her skeletal muscle biopsy showed CNM with the characteristic features of a DNM2 mutation, which was later confirmed by next-generation sequencing. This case expands the known clinical and pathological findings of CNM with DNM2 gene mutatio

The role of journalists and editors in agenda setting on the example of city section of Večernji list

U vrijeme kada sve veći broj autora piše o padu standarda i profesionalnih kriterija u novinarstvu, rad „Uloga novinara i urednika u agenda-settingu na primjeru gradske rubrike Večernjeg lista“ želi odgovoriti na pitanje tko postavlja agendu u jednoj novinskoj redakciji. Cilj je utvrditi tko su idejni začetnici tema u redakciji te koja je uloga novinara i urednika u definiranju tema, posebice u odnosu na druge aktere, odnosno djelatnike za odnose s javnošću, političke aktere, građane, agencije i druge medije. Kako bi se odgovorilo na postavljeno istraživačko pitanje te pokazalo jesu li negativni trendovi u novinarstvu vidljivi i na primjeru postavljanja agende, odabrana je teorija agenda-settinga te je autorica provela empirijsko istraživanje u kojem je korištena specifična metoda koja spaja ispitivanje aktera i analizu sadržaja u koju su bili uključeni sami novinari. Iako je glavna pretpostavka bila da su novinari i urednici ipak ti koji stoje iza ideje za većinu članaka, ona je opovrgnuta, a rezultati su pokazali da je ideja za članke u gradskoj rubrici Večernjeg lista u većem broju slučajeva potekla od odnosa s javnošću. Međutim, uz pretpostavku da najjednostavnija usporedba i postavljanje omjera ne mora nužno dati pravu sliku odnosa i uloga, u obzir su uzete i druge varijable, odnosno ostale značajke analiziranih članaka. Tako je iz dobivenih rezultata vidljivo da su članci čija ideja potječe od novinara i urednika bolje pozicionirani, veći, analitičniji, imaju u većem broja slučajeva grafičku opremu te barem jedan izvor informacija. S druge strane, članci za koje tema potječe od odnosa s javnošću su manji, lošije pozicionirani te u većini slučajeva nemaju grafičku opremu ili naveden izvor. S obzirom da je ovo istraživanje prvo na tu temu u Hrvatskoj, dobiveni rezultati daju smjernice za buduća istraživanja agende-settinga te odnosa između novinarstva i odnosa s javnošću.At a time when a growing number of authors write about declining standards and professional criteria of journalism, the paper "The role of journalists and editors in agenda-setting on the example of city section of Večernji list" wants to answer the question: "Who sets the agenda in a newsroom?". The goal of this paper is to determine who are the creators of the ideas for the articles and what is the role of journalists and editors in defining the topics, especially in relation to the other actors, such as public relations professionals, political actors, citizens, news agencies and the other media. The theory of agenda-setting has been chosen to answer the research question and to show whether the negative trends in journalism are visible through the example of setting the agenda. The author of this paper conducted empirical research which used a specific research method that combines testing the actors and content analysis in which the journalists themselves were involved. Although the main assumption was that journalists and editors are creators of ideas for the mayority of articles, it is disproved, and the results show that the idea for the articles in the city section of Večernji list has come from public relations in higher number of cases. However, with the assumption that the simplest comparison and setting the aspect ratios do not necessarily give a true picture of relationships and roles, other variables and characteristics of analyzed articles were also taken into the consideration. Thus, the results obtained clearly show that the articles in which the idea came from the journalists and the editors were larger, better positioned, more analytic, and had in higher number of cases better graphical equipment with at least one source of information. On the other hand, the articles in which the topic comes from the public relations were smaller, poorly positioned and in most cases didn’t have graphical equipment or didn’t mention the source. Given that this is the first study on this subject in Croatia, the results provide guidance for future research of agenda-setting and the relationship between journalism and public relations

Book Reviews

Giovanna Mascheroni, Cristina Ponte and Ana Jorge (Eds.) - DIGITAL PARENTING: THE CHALLENGES FOR FAMILIES IN THE DIGITAL AGE Yvonne Anderson, Ulf Dalquist, Jonas Ohlsson (Eds.) - YOUTH AND NEWS IN DIGITAL MEDIA ENVIRONMENT. NORDIC-BALTIC PERSPECTIVES Seth Ashley, Jessica Roberts and Adam Maksl - AMERICAN JOURNALISM AND ‘’FAKE NEWS’’: EXAMINING THE FACTS J. Ignacio Callego, Manuel Fernández Sande, Nieves Limón (Eds.) - TRENDS IN RADIO RESEARCH: DIVERSITY, INNOVATION AND POLICIE

Book Reviews

Giovanna Mascheroni, Cristina Ponte and Ana Jorge (Eds.) - DIGITAL PARENTING: THE CHALLENGES FOR FAMILIES IN THE DIGITAL AGE Yvonne Anderson, Ulf Dalquist, Jonas Ohlsson (Eds.) - YOUTH AND NEWS IN DIGITAL MEDIA ENVIRONMENT. NORDIC-BALTIC PERSPECTIVES Seth Ashley, Jessica Roberts and Adam Maksl - AMERICAN JOURNALISM AND ‘’FAKE NEWS’’: EXAMINING THE FACTS J. Ignacio Callego, Manuel Fernández Sande, Nieves Limón (Eds.) - TRENDS IN RADIO RESEARCH: DIVERSITY, INNOVATION AND POLICIE

A rare case of centronuclear myopathy with DNM2 mutation: genotype–phenotype correlation

Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined. Here, we describe the case of a 17-year-old female who presented with proximal muscle weakness along with congenital anomalous pulmonary venous connection (which has not been described in previous cases of CNM), scoliosis, and lung disease without a significant family history. Her creatine kinase level was normal. Histology, special stains, and electron microscope findings on her skeletal muscle biopsy showed CNM with the characteristic features of a DNM2 mutation, which was later confirmed by next-generation sequencing. This case expands the known clinical and pathological findings of CNM with DNM2 gene mutatio

Microscopy with ultraviolet surface excitation for rapid slide-free histology.

Histologic examination of tissues is central to the diagnosis and management of neoplasms and many other diseases, and is a foundational technique for preclinical and basic research. However, commonly used bright-field microscopy requires prior preparation of micrometre-thick tissue sections mounted on glass slides, a process that can require hours or days, that contributes to cost, and that delays access to critical information. Here, we introduce a simple, non-destructive slide-free technique that within minutes provides high-resolution diagnostic histological images resembling those obtained from conventional haematoxylin-and-eosin-histology. The approach, which we named microscopy with ultraviolet surface excitation (MUSE), can also generate shape and colour-contrast information. MUSE relies on ~280-nm ultraviolet light to restrict the excitation of conventional fluorescent stains to tissue surfaces, and it has no significant effects on downstream molecular assays (including fluorescence in situ hybridization and RNA-seq). MUSE promises to improve the speed and efficiency of patient care in both state-of-the-art and low-resource settings, and to provide opportunities for rapid histology in research