Clinical genetic aspects of Duchenne and Becker muscular dystrophy in the Netherlands

Dystrophinopathies include the well known Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). This thesis is a collection of several clinical and genetic studies on dystrophinopathies with implications for genetic counselling of patients and their families and for future therapy (e.g. personalized medicine) of patients suffering from this group of chronic progressive muscle diseases. The following recommendations are made: - Testing for dystrophinopathies in newborn boys on a voluntary basis should start as soon as possible in the Netherlands. This will reduce the chance of the birth of subsequent affected boys in the family and will also help in early introduction of possible therapy when this becomes available. - Parents should be given the choice of having their daughters tested prenatally, if foetal DNA is available. They should also be encouraged to have their daughters tested, even before adulthood. This will not only considerably reduce the incidence of DMD but will also ease the burden for the parents who have to inform their daughter of their future risks. - Genetic counsellors should have a more active approach to cascade screening and informing the patients and their families of their risks and possibilities.Glaxo Smith KlineUBL - phd migration 201

Record carrier, playback device and method of recording information

A record carrier has substantially parallel tracks, which exhibit first variations of a first physical parameter and second variations of a second physical parameter of the track. The first variations represent information recorded on the record carrier, which information is recoverable by means of a controllable type of data processing. A modulation pattern of the second variations represents a code for controlling said type of data processing. The record carrier has a limited area (S1,S4) in which the tracks have the second variations, the further tracks having no second variations.; The device comprises a control unit for locating the limited area (S1,S4) for retrieving the code from the modulation pattern of the second variations of the tracks in the limited area. A record carrier has substantially parallel tracks, which exhibit first variations of a first physical parameter and second variations of a second physical parameter of the track. The first variations represent information recorded on the record carrier, which information is recoverable by means of a controllable type of data processing. A modulation pattern of the second variations represents a code for controlling said type of data processing. The record carrier has a limited area (S1,S4) in which the tracks have the second variations, the further tracks having no second variations.; The device comprises a control unit for locating the limited area (S1,S4) for retrieving the code from the modulation pattern of the second variations of the tracks in the limited area

Record carrier, playback device and method of recording information

A record carrier has substantially parallel tracks, which exhibit first variations of a first physical parameter and second variations of a second physical parameter of the track. The first variations represent information recorded on the record carrier, which information is recoverable by means of a controllable type of data processing. A modulation pattern of the second variations represents a code for controlling said type of data processing. The record carrier has a limited area (S1,S4) in which the tracks have the second variations, the further tracks having no second variations.; The device comprises a control unit for locating the limited area (S1,S4) for retrieving the code from the modulation pattern of the second variations of the tracks in the limited area. A record carrier has substantially parallel tracks, which exhibit first variations of a first physical parameter and second variations of a second physical parameter of the track. The first variations represent information recorded on the record carrier, which information is recoverable by means of a controllable type of data processing. A modulation pattern of the second variations represents a code for controlling said type of data processing. The record carrier has a limited area (S1,S4) in which the tracks have the second variations, the further tracks having no second variations.; The device comprises a control unit for locating the limited area (S1,S4) for retrieving the code from the modulation pattern of the second variations of the tracks in the limited area

High prevalence of undiagnosed axial spondyloarthritis in patients with chronic low back pain consulting non-rheumatologist specialists in Belgium : SUSPECT study

Introduction: Diagnosis of axial spondy loarthritis (SpA) can be delayed for several years mainly because of low awareness of axial SpA among non-rheumatologists who are the first interlocutors of potential SpA patients. One strategy to decrease the delay between appearance of first symptoms and diagnosis of axial SpA and to allow early management of the disease is to provide the non-rheumatologists with tools to identify patients requiring prompt referral to rheumatologists. This study was designed to evaluate in a real-world setting whether screening patients with chronic low back pain who consult physical medicine and rehabilitation (PMR) physicians, orthopedists, and ophthalmologists is useful in detecting axial SpA. Methods: During this non-interventional cross-sectional study, data from 161 patients with chronic back pain, consulting an orthopedist, PMR physician, or ophthalmologist were collected during a single visit. Any patient who presented with at least four out of five symptoms of inflammatory back pain (IBP) and at least one additional SpA feature were to be referred to a rheumatologist. Analysis was purely descriptive. Results: IBP was diagnosed in approximately half of the patients (89 patients) and 72 of them met the referral criteria. A total of 117 patients were finally referred to a rheumatologist and axial SpA was diagnosed for 37 of them. Conclusions: The high prevalence of undiagnosed axial SpA in patients with chronic back pain visiting PMR physicians, orthopedists, and ophthalmologists suggests that these healthcare professionals may play a key role in the strategy developed to shorten the delay observed in the formal diagnosis of SpA

Abundance, size structure and community composition of phytoplankton in the Southern Ocean in the austral summer 1999/2000

The abundance, size structure and community composition of phytoplankton in the Southern Ocean were studied, using flow cytometry, microscopy and pigment profiles on two transects one latitudinal (N) and one longitudinal (W) during December 1999 and January 2000. In both transects, the concentration of autotrophic eukaryotes of 2-10μm equivalent spherical diameter (ESD) commonly exceeded those10μm ESD were detected by flow cytometry (however microscopy showed cells>10μm in length). Throughout transect N, chlorophyll α concentrations were generally. South of the Antarctic Polar Front (APF), chlorophyll α concentrations increased southward. CHEMTAX allocation of pigment data (italicized) showed that Diatoms contributed most chlorophyll with Haptophytes sub-dominant. North of the APF, chlorophyll α concentrations tended to increase northward. Here, Haptophytes contributed most chlorophyll, followed by Diatoms, Chlorophytes and Cyanobacteria, except at the northernmost stations where Cyanobacteria dominated. In transect W, chlorophyll α concentrations were also in most cases, but variable. Higher concentrations occasionally occurred in the west. In this transect, Diatoms contributed most (mean=61±15%) of the chlorophyll α, followed by Haptophytes. Nanodiatoms (particularly Fragilariopsis spp.) numerically dominated the diatom community. Fecal pellets composed of these nanodiatoms were observed in the Antarctic water, probably originating from heterotrophic dinoflagellates, implying a significant contribution of nanodiatoms to the microbial food web. However they contributed little to total chlorophyll α and diatom carbon biomass, particularly when chlorophyll and carbon concentrations were high

Verantwoordelijkheid: De verantwoordelijkheid van de kascommissie

"Wie veel zegt, heeft veel te verantwoorden; ik zeg nooit meer dan ik verantwoorden kan; dat is niet verantwoord"

The 5T mouse multiple myeloma model: absence of c-myc oncogene rearrangement in early transplant generations.

Consistent chromosomal translocations involving the c-myc cellular oncogene and one of the three immunoglobin loci are typical for human Burkitt's lymphoma, induced mouse plasmacytoma (MPC) and spontaneously arising rat immunocytoma (RIC). Another plasma cell malignancy, multiple myeloma (MM), arising spontaneously in the ageing C57BL/KaLwRij mice, was investigated in order to see whether the MM cells contain c-myc abnormalities of the MPC or RIC type. Rearrangement of the c-myc oncogene was found in the bone marrow cells only in 5T2 MM transplantation line in a mouse of the 24th generation and in none of the seven other MM of the 5T series which were of earlier generations. Since the mouse 5T MM resembles the human MM very closely, including the absence of consistent structural c-myc oncogene abnormalities, it can serve as a useful experimental model for studies on the aetiopathogenesis of this disease

Monitoring treatment of Taenia solium- neurocysticercosis by detection of circulating antigens: a case report

Background Parenchymal neurocysticercosis is a frequent cause of seizures in areas endemic for Taenia solium. At present there is scarce data on the evolution of the levels of circulating metacestodal antigen before, during and after treatment with anthelmintic drugs. Case presentation A patient with paucisymptomatic neurocysticercosis (NCC) diagnosed by Ag-ELISA, and confirmed by MRI images, was treated with praziquantel, albendazole and dexamethasone. The level of circulating T. solium antigen was determined weekly. Circulating antigen disappeared from his blood within 14 days after the start of the treatment and correlated with the involution of the cysticerci in the brain shown by imaging. Seventeen years later, the patient has not shown any side effect nor symptoms related to the treatment or to NCC. Conclusions If this encouraging finding is confirmed in a larger series of patients, this technique could be used to determine parasitological cure after treatment and might complement or sometimes replace sequential MRI-imaging of the brain

Efectos del uso indebido del espacio público en el municipio de Pereira

El espacio público en Colombia existe en cualquier territorio, y en todos podemos observar cantidad de usos indebidos y por lo tanto efectos adversos que afectan las ciudades, departamentos y municipios. Detrás de estos efectos adversos existen muchos factores que motivan a la población o conllevan a que esta haga un uso indebido del espacio público; muchos de estos efectos, o al menos los más evidentes, son sociales y económicos, pero también se puede evidenciar efectos de carácter urbano y ambiental de acuerdo con el modelo de ciudad. Para determinar estos efectos en este artículo se parte del concepto de espacio público en una línea de tiempo que va desde el Código Civil colombiano vigente desde 1873, en el cual se dieron los primeros pasos legislativos para regular estos espacios, partiendo de un concepto muy básico del espacio público. En esta línea de tiempo también se trae a estudio la Ley 9ª de 1986, la cual tuvo bastante importancia debido a su significativa ampliación y taxatividad de los espacios que se consideraban públicos, y adicionalmente empieza de esta manera a restringir sus usos. La Constitución de 1991 ya tenía una base más clara para definir el espacio público, pero por su naturaleza y la existencia de normatividad en el territorio este no es muy específico o amplio, pero sí plantea un principio bastante importante, y es la prevalencia del uso común sobre el particular, principio que se convierte en la base de las legislaciones siguientes en las cuales ya se trata una parte importante para garantizar la existencia de estos espacios y los debidos usos, que concite en la recuperación de dichos espacios y la competencia para iniciar y terminar dichos procesos. Finalmente, en el territorio de estudio, que es el Municipio de Pereira, se identifican los efectos del uso indebido del espacio público y se analiza el Decreto 1538 de 2005, el cual abarca un concepto ya mucho más completo y que recopila el concepto de espacio público de acuerdo con la legislación a nivel nacional, e incluso se observa cómo en el Municipio se aplicó el principio de confianza legítima, que es bastante relevante en este tema del espacio público.Public space in Colombia exists in any territory, and in all of them we can observe a number of improper uses and therefore adverse effects that affect cities, departments and municipalities. Behind these adverse effects are many factors that motivate or cause the population to misuse the public space, many of these effects or at least the most obvious are social and economic, but it is also possible to show effects of an urban and environmental nature according to the city model. To determine these effects in this article, we start from the concept of public space in a timeline that goes from the Colombian Civil Code in force since 1873, in which the first legislative steps were taken to regulate these spaces, based on a very basic concept of public space. Colombian civil code in effect in this timeline law 9 of 1986 is also brought to study, a law which was of considerable importance due to its significant enlargement and taxation of the spaces that were considered public and additionally begins in this way begins to restrict. The Political of 1991 already had a clearer basis for defining public space, but because of its nature and the existence of spatial norms, it is not very specific or broad, but it does raise a rather important and it is the prevalence of common use over the individual, principle which becomes the basis of the following laws in which an important part is already dealt with in order to guarantee the existence of these spaces and the proper uses, which conceives in the recovery of such spaces and the competence to initiate and complete these processes. Finally, the studied territory, which is the municipality of Pereira, analyzes the effects of the misuse of public space and analyses Decree 1538 of 2005, which covers an already much more complete concept and which compiles the concept of public space, according to the legislation at the national level and it is even observed how in the municipality the principle of legitimate trust was applied which is quite relevant in this issue of public space