Osteolytic metastasis detected by F18-FDG PET in a patient with lung carcinoma

We present a 53-year-old man with a vocal cord paralysis observed as a primary manifestation of lung carcinoma. Tc-99m MDP whole body bone scan were performed and resulted a normal scintiscan. The bone scan does not revealed suspicious foci of uptake. The possibility of bone metastasis was taken into consideration. A whole body F18-FDG-PET scan showed intense uptake in the left upper lung corresponding to the primary tumor. A bronchial biopsy confirmed infiltration by small cell lung carcinoma (SCLC). SCLC is composed of poorly differentiated, rapidly growing cells with disease usually occurring centrally rather than peripherally. It metastasizes early. The whole-body F18-FDG-PET scan clearly demonstrated a focus of increased uptake in the second lumbar vertebral body suspicious for osteolytic metastasis. A lytic bone metastasis was confirmed by MRI. The patient then received therapy and underwent follow up abdominal CT. The scan showed blastic changes in the L2 vertebra suggesting response to treatment.

Can MRI replace CT in evaluating semicircular canal dehiscence?

BACKGROUND AND PURPOSE: Patients with symptoms of semicircular canal dehiscence often undergo both CT and MR imaging. We assessed whether FIESTA can replace temporal bone CT in evaluating patients for SC dehiscence. MATERIALS AND METHODS: We retrospectively reviewed 112 consecutive patients (224 ears) with vestibulocochlear symptoms who underwent concurrent MR imaging and CT of the temporal bones between 2007 and 2009. MR imaging protocol included a FIESTA sequence covering the temporal bone (axial 0.8-mm section thickness, 0.4-mm spacing, coronal/oblique reformations; 41 patients at 1.5T, 71 patients at 3T). CT was performed on a 64-row multidetector row scanner (0.625-mm axial acquisition, with coronal/oblique reformations). Both ears of each patient were evaluated for dehiscence of the superior and posterior semicircular canals in consensual fashion by 2 neuroradiologists. Analysis of the FIESTA sequence and reformations was performed first for the MR imaging evaluation. CT evaluation was performed at least 2 weeks after the MR imaging review, resulting in a blinded comparison of CT with MR imaging. CT was used as the reference standard to evaluate the MR imaging results. RESULTS: For SSC dehiscence, MR imaging sensitivity was 100%, specificity was 96.5%, positive predictive value was 61.1%, and negative predictive value was 100% in comparison with CT. For PSC dehiscence, MR imaging sensitivity was 100%, specificity was 99.1%, positive predictive value was 33.3%, and negative predictive value was 100% in comparison with CT. CONCLUSIONS: MR imaging, with a sensitivity and negative predictive value of 100%, conclusively excludes SSC or PSC dehiscence. Negative findings on MR imaging preclude the need for CT to detect SC dehiscence. Only patients with positive findings on MR imaging should undergo CT evaluation.

Avulsion fracture of the peroneus longus tendon insertion at the base of the first metatarsal: report of a case.

Isolated avulsion fracture of the peroneus longus tendon insertion at the base of the first metatarsal is very rare. Similar to most avulsion fractures that result from excessive strain at a tendon or ligament insertion, this type of injury is caused by the strong tension exerted by the peroneus longus tendon. The mechanisms leading to this lesion and treatment options are not clearly defined. We present the case of an isolated minimally displaced intra-articular avulsion fracture at the plantar lateral base of the first metatarsal. Faced with a painful non-union following conservative treatment we considered excision of the bony fragment and first tarsometatarsal arthrodesis. This leads to a favourable functional outcome.

Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation.

Campomelic dysplasia is a skeletal dysplasia characterized by flat face, Pierre Robin sequence, shortening and bowing of long bones and club feet. The authors describe a case of "acampomelic" campomelic dysplasia that differs from classical campomelic dysplasia by the absence of bone bowing. This condition is among the most common skeletal dysplasias but is often misdiagnosed in the absence of overt campomelia.

L’Escolarització compartida: el cas de la Laia

Actualment s’està donant molt pes al fet d’incloure dins l’aula a tot aquell alumnat amb necessitats educatives especials per tal de fomentar la inclusió. Aquest fet i com a persona que visc el dia a dia amb persones amb diversitat funcional ha fet que hem plantegi molts dubtes i reptes sobre la inclusió. Així doncs, vaig pensar que seria interessant observar, descriure i analitzar com viu un infant amb diversitat funcional la seva escolarització dins una aula ordinària i dins una aula d’educació especial. La principal participant de la investigació ha estat la Laia, una nena de 10 anys la qual realitza escolarització compartida. La seva família i les tutores dels dos centres han col·laborat en la investigació aportant informació. El mètode utilitzat per a la investigació ha estat una recerca qualitativa a partir de l’anàlisi d’un estudi de cas utilitzant les entrevistes amb la família i els tutors de la Laia, l’observació de Laia dins l’horari escolar i les notes de camp com a instruments de recollida de dades. Com a conclusions pensem que la inclusió d’aquells infants amb diversitat funcional dins l’aula ordinària és molt important ja que els ajuda a viure en un àmbit amb total normalitat i fomenta el respecte de la gent que els envolta. Cal fomentar les situacions d’inclusió amb l’ús d’estratègies com poden ser el treball cooperatiu o establint bones relacions amb la gent que els envolta.

Le fixateur externe dans les lésions traumatiques graves du bassin: résultats à propos de 20 cas consécutifs [External fixator in severe traumatic injuries of the pelvis: results apropos of 20 consecutive cases]

From August 91 to December 94, 20 external fixators were used for severely injured patients (avg. ISS 25.2). The fractures were essentially open book with or without lateral compression and vertical lesions. The indication for fixation was treatment of shock and stabilization in 8 cases, stabilization alone in 9 cases, and in 3 cases as complementary fixation after internal fixation of posterior lesions. The fixation of the pelvis was effective on the amount of blood loss. One acetabulum fracture required surgery, two patients had internal fixation for loss of reduction and two others for late pubic and posterior pain. The clinical results are good; they are more related to the severity of the initial lesion than to the mode of fixation or the quality of the reduction. No superficial sepsis or osteitis was observed in relation to the pins.

Muscle moment-arms: a key element in muscle-force estimation.

A clear and rigorous definition of muscle moment-arms in the context of musculoskeletal systems modelling is presented, using classical mechanics and screw theory. The definition provides an alternative to the tendon excursion method, which can lead to incorrect moment-arms if used inappropriately due to its dependency on the choice of joint coordinates. The definition of moment-arms, and the presented construction method, apply to musculoskeletal models in which the bones are modelled as rigid bodies, the joints are modelled as ideal mechanical joints and the muscles are modelled as massless, frictionless cables wrapping over the bony protrusions, approximated using geometric surfaces. In this context, the definition is independent of any coordinate choice. It is then used to solve a muscle-force estimation problem for a simple 2D conceptual model and compared with an incorrect application of the tendon excursion method. The relative errors between the two solutions vary between 0% and 100%.

Regressió a segon grau: causes i conseqüències

La recerca aborda la situació penitenciària de regressió a segon grau d’una persona classificada en tercer grau de tractament. Aquesta recerca neix de la dada que a Catalunya el retorn esglaonat a la comunitat (a partir del tercer grau o de la llibertat condicional) no és la forma habitual en què les persones condemnades extingeixen la condemna sinó que resulta més comú la finalització en segon grau. Aquesta realitat resulta preocupant ja que existeix una evidència científica favorable al retorn esglaonat com un sistema amb més probabilitats d’aconseguir la reinserció de la persona. La recerca parteix de que un dels factors que explica aquesta taxa baixa de finalització de la condemna en tercer grau o en llibertat condicional és justament la regressió a segon grau. Acceptat aquest fet, els objectius de la recerca consisteixen en valorar si el nostre sistema penitenciari fa un ús restringit de la regressió i en explorar si es poden identificar les causes que expliquen que una vegada que s’ha produït la regressió sigui difícil reprendre el procés de reinserció a la comunitat. Per dur a terme la recerca s’ha pres com a població de referència les persones que van patir una regressió a segon grau a Catalunya durant l’any 2011 i que finalitzen la seva condemna entre l’1 de juliol i el 31 de desembre del 2012. Això dóna una població de 52 persones. S’ha procedit a estudiar els expedients penitenciaris d’aquestes persones i s’ha aconseguit entrevistar al 75% d’elles. La recerca posa de manifest que la nostra pràctica de regressió es troba encara allunyada d’un model garantista i rehabilitador, indica algunes raons que expliquen la dificultat de recuperar el tercer grau o la llibertat condicional una vegada regressat i finalment s’assenyalen un conjunt de recomanacions o bones pràctiques.

Regresión a segundo grado: causas y consecuencias

La investigación aborda la situación penitenciaria de regresión a segundo grado de una persona clasificada en tercer grado de tratamiento. Esta investigación nace del dato de que en Cataluña el retorno escalonado a la comunidad (a partir del tercer grado o de la libertad condicional) no es la forma habitual en que las personas condenadas extinguen la condena, sino que resulta más común la finalización en segundo grado. Esta realidad resulta preocupante ya que existe una evidencia científica favorable al retorno escalonado como un sistema con más probabilidades de lograr la reinserción de la persona. La investigación parte de que uno de los factores que explica esta baja tasa de finalización de la condena en tercer grado o en libertad condicional es justamente la regresión a segundo grado. Aceptado este hecho, los objetivos de la investigación consisten en valorar si nuestro sistema penitenciario hace un uso restringido de la regresión y en explorar si se pueden identificar las causas que explican que una vez que se ha producido la regresión sea difícil retomar el proceso de reinserción en la comunidad. Para llevar a cabo la investigación se ha tomado como población de referencia a las personas que sufrieron una regresión a segundo grado en Cataluña durante el año 2011 y que finalizaron su condena entre el 1 de julio y el 31 de diciembre de 2012. Esto da una población de 52 personas. Se ha procedido a estudiar los expedientes penitenciarios de estas personas y se ha conseguido entrevistar al 75% de ellas. La investigación pone de manifiesto que nuestra práctica de regresión se encuentra todavía alejada de un modelo garantista y rehabilitador, indica algunas razones que explican la dificultad de recuperar el tercer grado o la libertad condicional una vez regresado y finalmente se señalan un conjunto de recomendaciones o buenas prácticas.

Bone histomorphometry of broilers submitted to different phosphorus sources in growing and finisher rations

The objective of this work was to identify alterations in the histomorphology of the cortical bone tissue of broilers submitted to growing and finisher rations formulated with five different sources of phosphorus: dicalcium phosphate, simple superphosphate, triple superphosphate, monoammonium phosphate and Araxá rock phosphate. Histological images had their components segmented, and were called regions of interest (ROI). Images were analyzed through developed algorithms, using the SCILAB mathematical environment. Eleven features were considered in order to obtain a complete description of the bone images: percentage of bone by area, ROI area, ROI perimeters, ROI elongation, ROI angle and their respective standard deviations, besides entropy of ROI angles and a texture-oriented measure (lacunarity). The substitution of dicalcium phosphate in growing and finisher rations for any other tested source of phosphorus caused significant changes on the hystomorphology of the cortical broilers bones, for example: diminution of bone percentage by area, increase of lacuna area and worse matrix homogeneity. Changes were more pronounced in the Araxá rock phosphate treatments, with the highest fluorine content, than in simple superphosphate, triple superphosphate and monoammonium phosphate treatments, which were similar.

Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.

Spondylocarpotarsal synostosis syndrome (SCT) (OMIM 272460), originally thought to be a failure of normal spine segmentation, is characterized by progressive fusion of vertebras and associates unsegmented bars, scoliosis, short stature, carpal and tarsal synostosis. Cleft palate, sensorineural or mixed hearing loss, joint limitation, clinodactyly, and dental enamel hypoplasia are variable manifestations. Twenty-five patients have been reported. Thirteen affected individuals were siblings from six families and four of these families were consanguineous. In four of those families, Krakow et al. [Krakow et al. (2004) Nat Genet 36:405-410] found homozygosity or compound heterozygosity for mutations in the gene encoding FLNB. This confirmed autosomal recessive inheritance of the disorder. We report on two new patients (a mother and her son) representing the first case of autosomal dominant inheritance. These patients met the clinical and radiological criteria for SCT and did not present any features which could exclude this diagnosis. Molecular analysis failed to identify mutations in NOG and FLNB. SCT is therefore, genetically heterogeneous. Both dominant and autosomal recessive forms of inheritance should be considered during genetic counseling.

Effects of usual nutrient intake and vitamin D status on markers of bone turnover in Swiss adolescents.

OBJECTIVE: To evaluate the effects of nutrient intake and vitamin D status on markers of type I collagen formation and degradation in adolescent boys and girls. DESIGN: Cross-sectional study. SETTING: Canton of Vaud, West Switzerland. SUBJECTS: A total of 92 boys and 104 girls, aged 11-16 y. Data were collected on height, weight, pubertal status (self-assessment of Tanner stage), nutrient intake (3-day dietary record) and fasting serum concentration of 25-hydroxyvitamin D (25OHD), and markers of collagen formation (P1NP) and degradation (serum C-terminal telopeptides: S-CTX). RESULTS: Tanner stage was a significant determinant of P1NP in boys and girls and S-CTX in girls. Of the nutrients examined, only the ratio of calcium to phosphorus (Ca/P) was positively associated with P1NP in boys, after adjustment for pubertal status. 25OHD decreased significantly at each Tanner stage in boys. Overall, 15% of boys and 17% of girls were identified as being vitamin D insufficient (serum 25OHD <30 nmol/l), with the highest proportion of insufficiency at Tanner stage 4-5 (29%) in boys and at Tanner stage 3 (24%) in girls. A significant association was not found between 25OHD and either bone turnover marker, nor was 25OHD insufficiency associated with higher concentrations of the bone turnover markers. CONCLUSIONS: The marked effects of puberty on bone metabolism may have obscured any possible effects of diet and vitamin D status on markers of bone metabolism. The mechanistic basis for the positive association between dietary Ca/P ratio and P1NP in boys is not clear and may be attributable to a higher Ca intake per se, a critical balance between Ca and P intake or higher dairy product consumption. A higher incidence of vitamin D insufficiency in older adolescents may reflect a more sedentary lifestyle or increased utilisation of 25OHD, and suggests that further research is needed to define their requirements. SPONSORSHIP: Nestec Ltd and The Swiss Foundation for Research in Osteoporosis.

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure. Using exome capture and next-generation sequencing in five unrelated simplex cases of MCTO, we identified previously unreported missense mutations clustering within a 51 base pair region of the single exon of MAFB, validated by Sanger sequencing. A further six unrelated simplex cases with MCTO were also heterozygous for previously unreported mutations within this same region, as were affected members of two families with autosomal-dominant MCTO. MAFB encodes a transcription factor that negatively regulates RANKL-induced osteoclastogenesis and is essential for normal renal development. Identification of this gene paves the way for development of novel therapeutic approaches for this crippling disease and provides insight into normal bone and kidney development.

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.

Dyssegmental dysplasia, Silverman-Handmaker type (DDSH; #MIM 224410) is an autosomal recessive form of lethal dwarfism characterized by a defect in segmentation and fusion of vertebral bodies components ("anisospondyly") and by severe limb shortening. It is caused by mutations in the perlecan gene (HSPG2), but so far, only three molecularly confirmed cases have been reported. We report a novel case of DDSH in a fetus that presented at 15 weeks gestation with encephalocele, severe micromelic dwarfism and narrow thorax. After termination of pregnancy, radiographs showed short ribs, short and bent long bones and anisospondyly of two vertebral bodies. The fetus was homozygous for a previously undescribed null mutation in HSPG2.

Los equipos docentes y la construcción de la identidad profesional

Posiblemente el equipo docente sea un instrumento de construcción de la identidad profesionaly, especialmente, si tenemos en cuenta que, a lo largo de los últimos años, ha existido unanotable eclosión de estos equipos con la implantación del espacio Europeo de Educación Superior(EEES). Dichas prácticas en equipos docentes venían a alterar la tradición del profesoradouniversitario basada en el trabajo individual y en solitario (Zabalza, 2009). Por el contrario,los equipos docentes representan un nuevo marco de trabajo colaborativo, en el que la fuerzay la creatividad docentes se trasladan del trabajo individual al trabajo colectivo y colaborativo(López, 2007).Esta comunicación se basa en los resultados de la investigación Equips Docents: Identificacióde Bones pràctiques (Equips docentes: Identificación de Buenas Prácticas) que un grupode profesoras y profesores de la Facultad de Pedagogía de la Universitat de Barcelona llevamosa cabo durante los años 2010, 2011 y 2012 dentro del Programa REDICE-10 del Institut deCiències de l’Educació de la Universitat de Barcelona.