Ataxia in children: early recognition and clinical evaluation

Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex. A careful history, physical examination and some characteristic maneuvers are useful for the diagnosis of ataxia. Some of the causes of ataxia point toward a benign course, but some cases of ataxia can be severe and particularly frightening. Methods: Here, we describe the primary clinical ways of detecting ataxia, a sign not easily recognizable in children. We also report on the main disorders that cause ataxia in children. Results: The causal events are distinguished and reported according to the course of the disorder: acute, intermittent, chronic-non-progressive and chronic-progressive. Conclusions: Molecular research in the field of ataxia in children is rapidly expanding; on the contrary no similar results have been attained in the field of the treatment since most of the congenital forms remain fully untreatable. Rapid recognition and clinical evaluation of ataxia in children remains of great relevance for therapeutic results and prognostic counseling

Cervical neurenteric cyst and Klippel-Feil syndrome: An abrupt onset of myelopathic signs in a young patient

Neurenteric cysts (NECs), also called enterogenous cysts or enterogenic cysts, are congenital malformative anomalies of endodermal origin that manifest with a variety of disorders, including spine anomalies. Neurenteric cysts are uncommon developmental disorders reported in 0.7%–1.3% of all spinal tumors. Klippel-Feil syndrome (KFS) defines a malformative spine disorder presenting with congenital fusion of cervical vertebrae and/or other parts of the spine. In patients with KFS, NECs are rarely reported; they may be silent for long periods of time, showing a slow progressive course or manifesting with an acute, severe neurological presentation or with fluctuating myelopathic symptoms. We report a young patient affected by KFS associated with a NEC which, in a short period of time, progressively caused myelopathic symptomatology. Surgical intervention resulted in resolution of the neurological signs. Keywords: Neurenteric cyst, Klippel-Feil syndrome, Intramedullary cys

Primary headaches in children: clinical findings on the association with other conditions.

The aim of the present study is to report on the frequency of some comorbidities in primary headaches in childhood. Two hundred and eighty children (175 males and 105 females; ratio 1.7:1), aged 4 to 14 years, affected by primary headaches were consecutively enrolled in this study. In direct interviews, parents and children gave information about the association of their headaches with different conditions including asthma and allergic disorders, convulsive episodes, sleep disorders and increased body weight, affections some time associated in the literature to headache as comorbidities. In addition, anxiety and depression, attention deficit/hyperactivity disorder, tics, learning disabilities and obsessive-compulsive disorders, using psycho-diagnostic scales were evaluated. Two hundred and eighty children matched for age, sex, race and socio-economic status, were used as controls. No significant association of primary headaches was found with asthma and allergic disorders, convulsive episodes, sleep disorders and increased body weight. Overall behavioral disorders were more common in children who experienced headache than in controls. A significant association of primary headache was found with anxiety and depression (p value <0.001), but not with the other psychiatric disorders. Primary headaches in children are not associated with most of the psychiatric and systemic conditions herein investigated. On the contrary, there was a significant association with anxiety and depression, as frequently reported in adults

Embolization for acute nonvariceal bleeding of upper and lower gastrointestinal tract: a systematic review

Background Acute non-variceal gastrointestinal bleedings (GIBs) are pathological conditions associated with significant morbidity and mortality. Embolization without angiographic evidence of contrast media extravasation is proposed as an effective procedure in patients with clinical and/or laboratory signs of bleeding. The purpose of this systematic review is to define common clinical practice and clinical and technical outcomes of blind and preventive embolization for upper and lower gastrointestinal bleeding.Main bodyThrough the PubMed, Embase and Google Scholar database, an extensive search was performed in the fields of empiric and preventive embolization for the treatment of upper and lower gastrointestinal bleedings (UGIB and LGIB). Inclusion criteria were: articles in English for which it has been possible to access the entire content; adults patients treated with empiric or blind transcatheter arterial embolization (TAE) for UGIB and/or LGIB. Only studies that analysed clinical and technical success rate of blind and empiric TAE for UGIB and/or LGIB were considered for our research. Exclusion criteria were: recurrent articles from the same authors, articles written in other languages, those in which the entire content could not be accessed and that articles were not consistent to the purposes of our research. We collected pooled data on 1019 patients from 32 separate articles selected according to the inclusion and exclusion criteria. 22 studies focused on UGIB (total 773 patients), one articles focused on LGIB (total 6 patients) and 9 studies enrolled patients with both UGIB and LGIB (total 240 patients). Technical success rate varied from 62% to 100%, with a mean value of 97.7%; clinical success rate varied from 51% to 100% with a mean value of 80%. The total number of complications was 57 events out of 1019 procedures analysed.ConclusionTAE is an effective procedure in the treatment of UGIB patients in which angiography does not demonstrate direct sign of ongoing bleeding. The attitude in the treatment of LGIBs must be more prudent in relation to poor vascular anastomoses and the high risk of intestinal ischemia. Blind and preventive procedures cumulatively present a relatively low risk of complications, compared to a relatively high technical and clinical success

Data mining in the context of monitoring Mt Etna, Italy

The persistent volcanic activity of Mt Etna makes the continuous monitoring of multidisciplinary data a first-class issue. Indeed, the monitoring systems rapidly accumulate huge quantity of data, arising specific problems of an- dling and interpretation. In order to respond to these problems, the INGV staff has developed a number of software tools for data mining. These tools have the scope of identifying structures in the data that can be related to volcanic activity, furnishing criteria for the identification of precursory scenarios. In particular, we use methods of clustering and classification in which data are divided into groups according to a- priori-defined measures of similarity or distance. Data groups may assume various shapes, such as convex clouds or complex concave bodies.The “KKAnalysis” software package is a basket of clustering methods. Currently, it is one of the key techniques of the tremor-based automatic alarm systems of INGV Osservatorio Etneo. It exploits both Self-Organizing Maps and Fuzzy Clustering. Beside seismic data, the software has been applied to the geo- chemical composition of eruptive products as well as a combined analysis of gas-emission (radon) and seismic data. The “DBSCAN” package exploits a concept based on density-based clustering. This method allows discovering clusters with arbitrary shape. Clusters are defined as dense regions of objects in the data space separated by re- gions of low density. In DBSCAN a cluster grows as long as the density within a group of objects exceeds some threshold. In the context of volcano monitoring, the method is particularly promising in the recognition of ash par- ticles as they have a rather irregular shape. The “MOTIF” software allows us to identify typical waveforms in time series, outperforming methods like cross-correlation that entail a high computational effort. MOTIF can recognize the non-imilarity of two patterns on a small number of data points without going through the whole length of data vectors. All the developments aforementioned come along with modules for feature extraction and post-processing. Spe- cific attention is devoted to the obustness of the feature extraction to avoid misinterpretations due to the presence of disturbances from environmental noise or other undesired signals originating from the source, which are not relevant for the purpose of volcano surveillance

Data Mining in the Context of Monitoring Mt Etna, Italy

The persistent volcanic activity of Mt Etna makes the continuous monitoring of multidisciplinary data a first-class issue. Indeed, the monitoring systems rapidly accumulate huge quantity of data, arising specific problems of andling and interpretation. In order to respond to these problems, the INGV staff has developed a number of software tools for data mining. These tools have the scope of identifying structures in the data that can be related to volcanic activity, furnishing criteria for the identification of precursory scenarios. In particular, we use methods of clustering and classification in which data are divided into groups according to apriori- defined measures of similarity or distance. Data groups may assume various shapes, such as convex clouds or complex concave bodies.The “KKAnalysis” software package is a basket of clustering methods. Currently, it is one of the key techniques of the tremor-based automatic alarm systems of INGV Osservatorio Etneo. It exploits both Self-Organizing Maps and Fuzzy Clustering. Beside seismic data, the software has been applied to the geochemical composition of eruptive products as well as a combined analysis of gas-emission (radon) and seismic data. The “DBSCAN” package exploits a concept based on density-based clustering. This method allows discovering clusters with arbitrary shape. Clusters are defined as dense regions of objects in the data space separated by regions of low density. In DBSCAN a cluster grows as long as the density within a group of objects exceeds some threshold. In the context of volcano monitoring, the method is particularly promising in the recognition of ash particles as they have a rather irregular shape. The “MOTIF” software allows us to identify typical waveforms in time series, outperforming methods like cross-correlation that entail a high computational effort. MOTIF can recognize the non-imilarity of two patterns on a small number of data points without going through the whole length of data vectors. All the developments aforementioned come along with modules for feature extraction and post-processing. Specific attention is devoted to the obustness of the feature extraction to avoid misinterpretations due to the presence of disturbances from environmental noise or other undesired signals originating from the source, which are not relevant for the purpose of volcano surveillance

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy

Background: Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1-BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3-BP5). The deletion at BP4-BP5 is the rearrangement most frequently observed compared to other known deletions in BP3-BP5 and BP3-BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speech disorders. Of note, no overt clinical difference among each group of BP region deletions has been recorded so far. Methods: We report on a four-member family plus an additional unrelated boy affected by a BP3-BP5 deletion that presented with typical clinical signs including speech delay and language impairment. A review of the clinical features associated with the three main groups of BP regions (BP4-BP5, BP3-BP5, and BP3-BP4) deletions is reported. Results: Array-CGH analysis revealed in the mother (case 1) and in her three children (cases 2, 3, and 4), as well as in the unrelated boy (case 5), the following rearrangement: arr (hg19) 15q13.1-q13.3 (29.213.402-32.510.863) x1. Conclusion: This report, along with other recent observations, suggests the hypothesis that the BP region comprised between BP3 and BP5 in chromosome 15q13 is involved in several brain human dysfunctions, including impairment of the language development and, its deletion, may be directly or indirectly responsible for the speech delay and language deficit in the affected individuals

Case report: A gain-of-function of hamartin may lead to a distinct “inverse TSC1-hamartin” phenotype characterized by reduced cell growth

Mutations of TSC1 and TSC2 genes cause classical Tuberous Sclerosis Complex (TSC), a neurocutaneous disorder characterized by a tendency to develop hamartias, hamartomas, and other tumors. We herein report on a girl, now aged 5 years, who presented a previously unreported, distinct clinical phenotype consisting of primary microcephaly (head circumference = 40 cm, −5.6 standard deviations), brain anomalies including hypoplasia of the corpus callosum (with a residual draft of the genu), simplified parieto-temporal gyral pattern, colpocephaly with ectasia of the temporal ventricular horns, intellectual disability, and a general pattern of reduced growth (with weight and height &lt; 3rd centiles). No classical features of TSC were recorded; the girl harbored a novel missense variant in TSC1 (c.611G &gt; A). We hypothesize that her clinical phenotype could be related to a “gain-of-function” of the TSC1 protein product hamartin, causing an increase in the effects of the protein on inhibition of its intracellular targets (i.e., mTORC or RAC1 pathways), resulting in a distinct “inverse TSC1-hamartin” phenotype characterized by reduced growth of cells instead of the more classical predisposition to increased cell growth

Dry eye in systemic sclerosis patients: Novel methods to monitor disease activity

Background: In systemic sclerosis (SSc) patients, dry eye syndrome (DES) is the most frequent ocular feature. The aim of this study was to investigate ocular DES-related SSc patients and to establish any correlation with the severity of the disease. Methods: Retrospectively, data from 60 patients with SSc underwent ophthalmic examination, where non-invasive film tear break-up time (NIF-TBUT), tear film lipid layer thickness (LLT), anesthetic-free Schirmer test I, tear osmolarity measurement (TearLab System), and modified Rodnan skin score (mRSS) data were collected. The visual analog scale (VAS) and Symptom Assessment in Dry Eye (SANDE) methods were utilized. The results were correlated with mRSS and the duration of SSc. Results: Severe DES occurred in 84% of cases, and was more severe in women. The eyelids were involved in 86.6%, secondary to meibomian gland disease (MGD). A direct correlation was found between the tear osmolarity (mean 328.51 ± 23.8 SD) and skin score (mRSS) (r = 0.79; p &lt; 0.01). Significantly reduced NIF-TBUT, LLT, and Schirmer test I values were observed in the case of severe skin involvement. Conclusions: SSc patients show lipid tear dysfunction related to the severity and duration of the disease due to inflammation and the subsequent atrophy of the meibomian glands

TheKnowRISKproject:Tools and strategies for risk communication and learning

Damage of non-structural elements of buildings (i.e. partitions, ceilings, cladding, electrical and mechanical sys- tems and furniture) is known to cause injuries and human losses. Also it has a significant impact on earthquake resilience and is yet being worldwide underestimated. The project KnowRISK (Know your city, Reduce seISmic risK through non-structural elements) is financed by the European Commission to develop prevention measures that may reduce non-structural damage in urban areas. Pilot areas of the project are within the three European participating countries, namely Portugal, Iceland and Italy. They were chosen because they are prone to damage level 2 and 3 (EMS-98, European Macroseismic Scale) that typically affects non-structural elements. We will develop and test a risk communication strategy taking into ac- count the needs of households and schools, putting into practice a portfolio of best practice to reduce the most common non-structural vulnerabilities. Wewilltargetouractionstodifferentsocietalgroups,consideringtheirculturalbackgroundandsocialvulnerabil- ities, and implement a participatory approach that will promote engagement and interaction between the scientific community, practitioners and citizens to foster knowledge on everyone’s own neighborhoods, resilience and vul- nerability. A Practical Guide for citizens will highlight that low-cost actions can be implemented to increase safety of house- holds,meantasbeingtheplaceswherethemostvulnerablesocietalgroups,includingchildrenandelderlypeople, spend much of their time. Since our actions towards communication will include education, we will define tools that allow a clear and direct understanding of elements exposed to risk. Schools will be one of our target societal groups and their central role played at the community level will ensure spreading and strengthening of the communication process. Schools are often located in old or re-adapted build- ings,formerlyusedforotheruses,orwhenthegrowingnumberofstudentsornewneedsrequireadaptingthespace to the necessities, often without taking enough care of safety. Moreover, in urban areas, schools may be hosted in tall buildings where the shaking of moderate-to-low magnitude earthquakes can cause damage level 2 and 3. Students will be involved into looking after their own situation in terms of non-structural vulnerability to promote education and prevention, while increasing resilience in terms of societal capacity to cope with future disasters. The actions will undergo specific effectiveness assessment with ex-ante and ex-post surveys. The results of this assessmentwillallowanevaluationofon-siteriskcommunicationactivities,thecomparabilitybetweenpilot-areas achievements, and an opportunity for learning and guidance for future risk communication.PublishedVienna, Austria3T. Pericolosità sismica e contributo alla definizione del rischioope