Tuberous sclerosis: literature review and case report

Tuberous sclerosis (TS) or Bourneville"s disease is a rare, multisystemic genetic disorder. It involves alterations to ectodermal and mesodermal cell differentiation and proliferation, causing benign hamartomatous tumors, neurofibromas and angiofibromas in the brain and other vital organs including the kidney, heart, eyes, lungs, skin and mucosa. It also affects the central nervous system and produces neurological dysfunctions such as seizures, mental retardation and behavior disorders. Tuberous (rootshaped) growths develop in the brain, and calcify over time, becoming hard and sclerotic, hence the name given to the disease. Although inheritance is autosomal dominant, 60-70% of cases occur through spontaneous mutations. The disease is related to some mutations or alterations in two genes, named TSC1 and TSC2. Discovered in 1997, TSC1 is located on chromosome 9q34 and produces a protein called hamartin. TSC2, discovered in 1993, is located on chromosome 16p13 and produces a protein called tuberin. The prevalence of the disease is 1/6000-10,000 live newborns, and it is estimated that there are 1-2 million sufferers worldwide. This paper presents a literature review and a family case report of a mother and two of her daughters with oral features of TS

Erupted odontomas: a report of three cases and review of the literature

Introduction: Odontomas are benign odontogenic tumors composed of enamel, dentine, cement and pulp tissue. They are usually clinically asymptomatic, but often associated with tooth eruption disturbances. In exceptional cases the odontoma erupts into the mouth. The present study reports three cases of odontomas erupted into the oral cavity and reviews the literature. Clinical cases: The first case was an 11-year-old girl with impacted 4.6 associated to a radiopaque mass measuring about 2 cm in diameter. The histological diagnosis was complex odontoma. A clinical and radiological follow-up of 4.6 was carried out until its spontaneous eruption. The second case was a 26-year-old male presenting a hard, yellowish-brown mass located distal to the upper left second molar. Computed tomography confi rmed the presence of a radiopaque lesion, and the histopathological study confirmed a complex odontoma. The third patient was a 27-year-old male reporting tongue irritation due to tooth eruption in the inferior lingual region. A periapical radiograph revealed a mixed radiopaque lesion associated to impacted 3.2. The histological report in this case indicated a compound odontoma. Discussion: Odontomas erupting into the oral cavity are rare. The first case was published in 1980, and since then only 17 cases have been reported in the literature. Eight of the 17 cases were complex odontomas; the rest were compound odontomas. Pain, swelling and infection were the most common symptoms, and 13 cases presented an impacted tooth associated with the lesion

Mineralización estratiforme de Pb-Zn-Cu en el Paleozoico de Bassegoda (Pirineo Oriental)

Al Sur del pico de Bassegoda existe una mineralización estratiforme de galena, esfalerita y pirita con calcopirita y arsenopirita, en forma de diseminaciones y lentejones masivos, situadas dentro de un tramo de 10 metros de micaesquistos y dolomias negras. Estos niveles mineralizados se hallan en el contacto entre micaesquistos y dolomias masivas que contienen piroclastos cidos. Tanto el tipo de depósito como la litologia encajante, permiten correlacionar esta mineralización con un conjunto de concentraciones metalicas estratiformes y estratoligadas del Cambro-Ordovicico del NE de Cataluña.

Automatic target validation based on neuroscientific literature mining for tractography.

Target identification for tractography studies requires solid anatomical knowledge validated by an extensive literature review across species for each seed structure to be studied. Manual literature review to identify targets for a given seed region is tedious and potentially subjective. Therefore, complementary approaches would be useful. We propose to use text-mining models to automatically suggest potential targets from the neuroscientific literature, full-text articles and abstracts, so that they can be used for anatomical connection studies and more specifically for tractography. We applied text-mining models to three structures: two well-studied structures, since validated deep brain stimulation targets, the internal globus pallidus and the subthalamic nucleus and, the nucleus accumbens, an exploratory target for treating psychiatric disorders. We performed a systematic review of the literature to document the projections of the three selected structures and compared it with the targets proposed by text-mining models, both in rat and primate (including human). We ran probabilistic tractography on the nucleus accumbens and compared the output with the results of the text-mining models and literature review. Overall, text-mining the literature could find three times as many targets as two man-weeks of curation could. The overall efficiency of the text-mining against literature review in our study was 98% recall (at 36% precision), meaning that over all the targets for the three selected seeds, only one target has been missed by text-mining. We demonstrate that connectivity for a structure of interest can be extracted from a very large amount of publications and abstracts. We believe this tool will be useful in helping the neuroscience community to facilitate connectivity studies of particular brain regions. The text mining tools used for the study are part of the HBP Neuroinformatics Platform, publicly available at http://connectivity-brainer.rhcloud.com/.

Involuntary outpatient treatment for mental health problems in Switzerland: a literature review.

BACKGROUND: In 2008, the Swiss Civil Code was amended. From 1 January 2013, each Swiss canton may propose specific provisions for involuntary outpatient treatment (community treatment orders (CTOs)) for individuals with mental disorders. AIM: This review catalogues the legal provisions of the various Swiss cantons for CTOs and outlines the differences between them. It sets this in the context of variations in clinical provisions between the cantons. METHODS: Databases were searched to obtain relevant publications about CTOs in Switzerland. The Swiss Medical Association, Swiss Federal Statistical Office, Swiss Health Observatory and all the 26 Cantonal medical officers were contacted to complete the information. Conférence des cantons en matière de protection des mineurs et des adultes (COPMA), the authority which monitors guardianship legislation, and Pro Mente Sana, a patients' right association, were also approached. RESULTS: Three articles about CTOs in Switzerland were identified. Psychiatric provisions vary considerably between cantons and only a few could provide complete or even partial figures for rates of compulsion in previous years. Prior to 2013, only 6 of the 20 cantons, for which information was returned, had any provision for CTOs. Now, every canton has some form of legal basis but the level of detail is often limited. In eight cantons, the powers of the measure are not specified (for example, use of medication). In 12 cantons, the maximum duration of the CTO is not specified. German speaking cantons and rural cantons are more likely to specify the details of CTOs. CONCLUSION: Highly variable Swiss provision for CTOs is being introduced despite the absence of convincing international evidence for their effectiveness or good quality data on current coercive practice. Careful monitoring and assessment of these new cantonal provisions are essential.

Evidencias geomorfológicas y estructurales del levantamiento tectónico reciente en la terminación suroccidental de la falla de Alhama de Murcia (cordillera Bética oriental)

En este trabajo analizamos la actividad tectónica reciente mediante 1)un estudio geomorfológico de los abanicos aluviales y de la red de drenaje, y 2)un estudio de la deslocación vertical de los abanicos aluviales. Como resultado, se han obtenido valores bajos (hasta 0,04) en los índices de elongación de las cuencas, altos (hasta 7,5) en el índice de gradiente, saltos verticales en los abanicos aluviales del Pleistoceno reciente de hasta 20 metros (140 m. acumulados durante el Cuaternario), y estrías de falla con cabeceos muy altos. Todo indica que hay un levantamiento activo en la zona, y que la componente vertical del deslizamiento es más importante aquí que en el resto de la falla de Alhama de Murcia.

Las rocas hipoabisales hercinianas y tardi-hercinianas del sector centro-oriental del sinclinal de Llavorsí (Pirineo Central)

Los materiales silricos, devnicos que constituyen el sinclinal de Llavors (Pirineo central) estn atravesados por dos grupos principales de rocas gneas hipoabisales. El primer grupo esta formado por rocas de composicin bsica e intermedis afectadas por un metamorfismo herciniano de grado muy bajo y forman parte, por tanto, de un episodio magmtico bsico anterior a las deformaciones principales hercinianas. Las transformaciones secundarias sufridas por estas rocas impiden deducir, apartir del estudio de 10s elementos mayores, su pertenencia a una serie ignea determinada si bien pueden distinguirse claramente dos asociaciones con distintas relaciones Mg/Fe. El segundo grupo, claramente postectnico, est constituido nicamente por rocas cidas (felsitas y prfidos granticos y granodioriticos), relacionadas aparentemente con el plutonismo calcoalcalino tardi-herciniano.

Is high dose rate brachytherapy reliable and effective treatment for prostate cancer patients? A review of the literature.

The intrinsic physical and radiobiological characteristics of High Dose Rate Brachytherapy (HDR-BT) are well suited to the treatment of prostate cancer. HDR-BT was initially used as a boost to external beam brachytherapy, but has subsequently been employed as the sole treatment, which is termed HDR monotherapy. This review summarizes the clinical outcomes and toxicity results of the principal studies and discusses the radiobiological basis supporting its use.

Las rocas hipoabisales hercinianas y tardi-hercinianas del sector centro-oriental del sinclinal de Llavorsí (Pirineo Central)

Los materiales silricos, devnicos que constituyen el sinclinal de Llavors (Pirineo central) estn atravesados por dos grupos principales de rocas gneas hipoabisales. El primer grupo esta formado por rocas de composicin bsica e intermedis afectadas por un metamorfismo herciniano de grado muy bajo y forman parte, por tanto, de un episodio magmtico bsico anterior a las deformaciones principales hercinianas. Las transformaciones secundarias sufridas por estas rocas impiden deducir, apartir del estudio de 10s elementos mayores, su pertenencia a una serie ignea determinada si bien pueden distinguirse claramente dos asociaciones con distintas relaciones Mg/Fe. El segundo grupo, claramente postectnico, est constituido nicamente por rocas cidas (felsitas y prfidos granticos y granodioriticos), relacionadas aparentemente con el plutonismo calcoalcalino tardi-herciniano.

Mating disruption with low density diffusers for the management of oriental fruit moths (Lepidoptera: Tortricidae) in apple orchards under subtropical climate in southern Brazil

The oriental fruit moth, Grapholita molesta Busck, and fruit flies, Anastrepha fraterculus L., are the important apple pests under Subtropical climate in Southern Brazil, and control is normally accomplished with insecticides. An alternative strategy for the control of G. molesta is mating disruption, through the use of pheromones. Mating disruption strategies using a low density of dispensers (20) per hectare were tested in comparison with conventional pesticides for control of G. molesta in commercial Gala apple orchards in Fraiburgo, SC, for a period of five years. The average field efficiency period of mating disruption formulation over five years was 113 days. In this period the mating interruption index on mating disruption plots was 84.8% over five years. Damage to Gala apples by oriental moth larvae was low (<0.1%) in mating disruption plots but did not differ from conventional plots, except in the third year. The use of mating disruption allowed for an average reduction of 5.2 insecticide treatments per year in Gala orchards during field efficiency period. It was necessary to apply 1.0 and 1.2 applications of insecticide to control of G. molesta and A. fraterculus, respectively. Mating disruption with a low density of diffusers proved to be an effective alternative to conventional methods for control of G. molesta in Gala apple orchards in subtropical climate in southern Brazil.

Biozonación del Paleógeno continental de la zona oriental de la Cuenca del Ebro mediante carófitas: implicaciones en la biozonación general de carófitas de Europa Occidental

Se propone una biozonación mediante carófitas de las sucesiones paleógenas (Thanetiense- Oligoceno superior) de la Cuenca del Ebro, basada en las peculiaridades de sus asociaciones paleoflorísticas. Una de las novedades más interesantes en esta biozonación es la caracterización del Ilerdiense continental en la Cuenca del Ebro por la biozona de Maedleriella lavocati. Las disiribuciones cronoestratigráficas previamente conocidas de algunas de las especies índice del Paleógeno han sido notablemente ampliadas a partir de los nuevos datos sobre su distribución en la Cuenca del Ebro. Este hecho modifica el rango de distribución cronológica y la atribución cronoestratigráfica de algunas de las biozonas europeas de carófitas hoy en uso. Estos cambios implican la modificación de la biozonación del Paleógeno de Europa Occidental mediante carofitas (Riveline, 1986) del modo siguiente:l) La biozona de N. (T. ) thaleri se inicia en el Ilerdiense y no en el Cuisiense. 2) Se define una nueva biozona en el Priaboniense (biozona de S. labellata ) y otra en el Chattiense (biozona de H. lagenalis). 3) La prolongación del rango de varias especies zonales ha inducido a la supresión de la biozona de Chara notata y la redefinición de las de Chara microcera, Srephanocharapinguis, Stephanochara vectensis y Stephanochara berdotensis. Desde un punto de vista paleogeográfico los porcentajes estimados de especies pluricontinentales, europeas e ibéricas sugieren un cierto grado de aislamiento (durante el Bartoniense y el tránsito Priaboniense- Estampiense) de las poblaciones de carófitas paleógenas de la zona NE de Iberia.