ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent respiratory infections and male infertility. Using whole-exome resequencing and high-throughput mutation analysis, we identified recessive biallelic mutations in ZMYND10 in 14 families and mutations in the recently identified LRRC6 in 13 families. We show that ZMYND10 and LRRC6 interact and that certain ZMYND10 and LRRC6 mutations abrogate the interaction between the LRRC6 CS domain and the ZMYND10 C-terminal domain. Additionally, ZMYND10 and LRRC6 colocalize with the centriole markers SAS6 and PCM1. Mutations in ZMYND10 result in the absence of the axonemal protein components DNAH5 and DNALI1 from respiratory cilia. Animal models support the association between ZMYND10 and human PCD, given that zmynd10 knockdown in zebrafish caused ciliary paralysis leading to cystic kidneys and otolith defects and that knockdown in Xenopus interfered with ciliogenesis. Our findings suggest that a cytoplasmic protein complex containing ZMYND10 and LRRC6 is necessary for motile ciliary function

A time-motion analysis of lightweight women’s judo in the 2010 World Championships

The Olympic sport of judo has a growing base of performance analysis research considering the technical aspects, the tactical aspects and time motion analysis. This study aimed to further analyse this sport by specifically considering the time motion aspects of work, rest, kumi-kata and ne-waza in lightweight women's judo to establish if there are differences in this specific population of judo athletes. Pre-recorded footage of the women's u48kg, u52kg and u57kg weight divisions (143 contests) from the 2010 world judo championships were coded into temporal sequences. The coding of five KPIs across the three weight groups produced a total of 1756 hajime to matte blocks (work), 1422 matte to hajime blocks (rest), 1786 kumi-kata sequences (gripping sequences), and 516 ne-waza sequences (ground work). The results suggest the time spent in hajime to matte (work) and in matte to hajime (rest) are similar to those seen in other studies. This suggests there is little difference in the work to rest segments for lightweight women's judo compared to heavier weights and males

The Yugoslav Economic System

Le système économique de la Yougoslavie présente de nombreuses caractéristiques qui le différencient tant des économies collectivistes de type soviétique que des économies plus ou moins capitalistes de type occidental. Dans les premières années d'après-guerre, l'agriculture était collectivisée, et dans les autres secteurs de l'économie, la production, le commerce, les prix, et les revenus des particuliers étaient soumis à un contrôle centralisé rigoureux. Depuis 1950, une transition s'est opérée en faveur d'un type d'économie beaucoup plus libre dans lequel les activités des consommateurs, agriculteurs et entreprises socialisées sont coordonnées de façon croissante par l'intermédiaire des mécanismes du marché. Le présent article analyse le stade atteint par ce processus de décentralisation peu de temps après l'unification du taux de change et la réforme de la politique commerciale de 1961. A l'heure actuelle, la planification de l'économie se limite surtout, comme dans les économies occidentales, au domaine fiscal et au domaine du crédit, l'ampleur et la composition de la production courante étant généralement déterminées dans les unités de production en fonction des impulsions du marché. Le contrôle des prix constitue maintenant l'exception et non la règle. Alors que toutes les entreprises qui emploient plus qu'un petit nombre de personnes sont propriété publique, le fonctionnement de chaque entreprise dans le secteur socialisé est contrôlé en grande partie par les employés, et les ouvriers ne reçoivent pas un salaire qui représente le prix de la main d'oeuvre sur le marché mais plutôt ils participent aux bénéfices de l'entreprise. La rétribution de l'ouvrier individuel est conçue de manière à encourager la productivité. Environ la moitié de la valeur brute ajoutée par l'entreprise socialisée moyenne est perçue par les autorités communales et fédérales sous forme d'impôts. Ce niveau élevé de l'imposition fiscale, lorsqu'il s'augmente encore d'une épargne substantielle de la part des entreprises, contribue au financement d'un niveau exceptionnellement élevé d'investissement et est en grande partie la cause du rythme rapide de l'expansion économique et de l'industrialisation. Comme une proportion substantielle de l'investissement national est financée au moyen de fonds directement contrôlés par les autorités centrales, et que les prêts à long terme entre les entreprises ne sont autorisés que depuis peu, ces autorités sont en mesure de s'assurer que la répartition de l'investissement entre les divers secteurs d'activité correspond d'assez près aux plans d'investissement pré-établis. On pense que la séparation intervenue récemment entre les fonctions de banque centrale et celles de banque commerciale a renforcé le contrôle de la banque centrale sur le crédit. Contrairement à ce qui se fait dans les autres pays, cette dernière n'a pas seulement pour fonction de réglementer l'octroi du crédit à court et à moyen terme et de contrôler la circulation monétaire en fonction du degré de pression générale exercé dans le pays par la demande, mais elle doit aussi enregistrer les transactions des entreprises et institutions et veiller à ce que les obligations juridiques soient satisfaites. /// El sistema económico de Yugoslavia muestra muchas características que lo diferencian tanto de las economías colectivistas de tipo soviético, como de las economías occidentales más o menos capitalistas. En los primeros años de la postguerra, la agricultura se encontraba colectivizada y en el resto de la economía, la producción, el comercio, los precios y los ingresos personales, estaban sometidos a un control centralizado riguroso. Desde 1950 se ha estado llevando a cabo la transición hacia una economía mucho más autónoma en la que las actividades de consumidores, agricultores y empresas socializadas, se coordinan cada vez más a través del mecanismo del mercado. El presente estudio analiza la etapa alcanzada en este proceso de descentralización a poco de unificado el tipo de cambio y de efectuada la reforma de la política comercial en 1961. Hoy día, el planeamiento económico central se limita en gran parte--como en las economías occidentales--a las esferas fiscales y de crédito y, por regla general, la escala y estructura de la producción corriente se determina en las unidades productivas mismas, de conformidad con la reacción a los incentivos que el mercado ofrece. En la actualidad el control de los precios no existe sino excepcionalmente. Aunque todas las empresas que emplean más de cierto número de personas son de propiedad pública, la explotación de toda empresa del sector socializado está en su mayor parte controlada por los empleados de la empresa y los trabajadores no reciben salarios representativos del precio de la mano de obra en el mercado, sino que más bien participan de las utilidades de la empresa. La remuneración que el trabajador individual recibe está concebida en forma tal que sirva para fomentar la productividad. Las autoridades comunales y federales recaudan en forma de impuestos cerca de la mitad del valor bruto agregado por una empresa socializada ordinaria. Este alto nivel tributario, cuando lo complementan los ahorros considerables por parte de las empresas, contribuye al financiamiento de inversiones de un nivel excepcionalmente alto y constituye la razón principal del rápido ritmo del desarrollo económico y de la industrialización. Puesto que el financiamiento de una parte importante de las inversiones nacionales se hace con fondos que las autoridades centrales controlan directamente, y puesto que no es sino hasta hace muy poco tiempo que se ha permitido que las empresas efectúen entre sí préstamos a largo plazo, esas autoridades están en condiciones de poder asegurar que la distribución de las inversiones entre las diferentes ramas de la actividad económica concuerde más o menos estrechamente con planes de inversión predeterminados. Se cree que la reciente separación de la banca central y la banca comercial ha colocado el crédito bajo el control más firme del banco central. Tal como sucede en otros países, el banco central tiene no solamente la facultad de regular la oferta de crédito a corto y a mediano plazo y la circulación monetaria de acuerdo con el grado de presión que prevalezca en el país sobre la demanda, sino también la de registrar las transacciones de las empresas e instituciones, y la de velar por el cumplimiento de las obligaciones legales.

DO COMPRESSION PANTS INFLUENCE MUSCLE OSCILLATION, MUSCLE ACTIVATION TIME, AND OXYGEN CONSUMPTION DURING RUNNING?

Andrew Craig-Jones1, Jacquelyn Sertic2, Brittany Shimana3, James W. Navalta, FACSM3, John A. Mercer, FACSM3. 1Augusta University, Augusta, GA. 2University of Minnesota, St. Paul, MN. 3University of Nevada, Las Vegas, Las Vegas, NV. BACKGROUND: In recent years, compression clothing has become a billion-dollar market. Despite this boom in popularity, there is a relatively small amount of research investigating its effect on physiological variables during exercise. The purpose of this study was to compare muscle oscillation, muscle activation time, and oxygen consumption while wearing compression pants vs. a control garment during running. METHODS: Participants (n=11; 1.7±0.1m; 74.3±12.6kg; 26.7±12.7yr; 5F, 6M) ran in compression pants (20-25 mmHg) and a control garment (CON). Participants ran 6 min at: preferred speed (PS), preferred speed minus 10% (PS-10%), and preferred speed plus 10% (PS+10%). Muscle activity of the rectus femoris, biceps femoris, gastrocnemius, and tibialis anterior was measured through electromyography (EMG). Muscle Oscillation (MO) was measured with accelerometers attached to the thigh and shank. EMG, MO, stride frequency (SF), and rating of perceived exertion (RPE) were measured during the last minute of each condition. Rate of oxygen consumption (V̇O2) and heart rate (HR) were recorded and averaged over the final 3 minutes of for each condition. MO was assessed over the 0-60 Hz range by averaging power across 10 Hz bins per leg segment. EMG data were processed by removing any zero offset, rectifying, and averaging activation time over 5 strides. Dependent variables (Muscle activation time, MO, V̇O2, HR, RPE, SF) were each compared between conditions using 2 (garment) X 3 (speed) repeated measure ANOVAs (α=0.05). RESULTS: MO or activation time were not influenced by the interaction of garment and speed for any frequency bin assessed (p\u3e0.05). MO up to 40 Hz was lower during compression pants vs. control garment (p\u3c0,05). Muscle activation time for each muscle was shorter while wearing compression pants for RF, BF, & GA (p\u3c0.05). V̇O2, RPE, SF, nor HR were influenced by garment (p\u3e0.05). CONCLUSION: Wearing compression pants resulted in a reduction in MO and activation time; however, these changes did not translate into a reduction of V̇O2.With a reduction in muscle activation time it is possible there may be less fatigue for the runner and V̇O2 may be affected on longer running bouts. However, more research is needed to test this hypothesis

Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy

The role of heterotopic (migratory) motoneurons (HMN) in the pathogenesis of spinal muscular atrophy (SMA) is still controversial. We examined the occurrence and amount of HMN in spinal cord tissue from eight children with SMA (six with SMA-I and two with SMA-II). All affected subjects were carrying a homozygous deletion of exon 7 in the SMN1 gene. Unlike controls, virtually free from HMN, all SMA subjects showed a significant number of HMN at all levels of the spinal cord. Heterotopic neurons were hyperchromatic, located mostly in the ventral white matter and had no axon or dendrites. More than half of the HMN were very undifferentiated, as judged from their lack of immunoreactivity for NeuN and MAP2 proteins. Small numbers of more differentiated heterotopic neurons were also found in the dorsal and lateral white matter region. As confirmed by ultrastructural analysis, in situ end labeling (ISEL) and CD68 immunoreactivity, HMN in the ventral outflow were found to have no synapses, to activate microglial cells, and to eventually die by necrosis. An unbiased quantitative analysis showed a significant negative correlation between age of SMA subjects (a reflection of the clinical severity) and the number of HMN. Subjects who died at older ages had increased number of GFAP-positive astrocytes. Complementing our previous report on motoneuron apoptosis within the ventral horns in SMA, we now propose that abnormal migration, differentiation, and lack of axonal outgrowth may induce motoneuron apoptosis predominantly during early stages, whereas a slower necrosis-like cell death of displaced motoneurons which "escaped" apoptosis characterizes later stages of SMA

Molecular analysis and electromyoneurographic abnormalities in Croatian children with proximal spinal muscular atrophies

Childhood onset proximal spinal muscular atrophy presents with considerable clinical variability. This study included 14 Croatian children aged 11 days to 8 years with spinal muscular atrophy types I-III verified clinically and electromyoneurographically. DNA of affected children was screened for deletions of exons 7 and 8 of the survival motor neuron gene and for deletion of exon 5 of the neuronal apoptosis inhibitor protein gene. Motor nerve conduction velocity and compound muscle action potential amplitude were decreased in children with spinal muscular atrophy type I and II. Deletions of exons 7 and 8 of the survival motor neuron gene and of exon 5 of the neuronal apoptosis inhibitor protein gene in children with spinal muscular atrophy type I-II suggested existence of more genetic abnormalities as compared to type III. A decrease in compound muscle action potential amplitude and motor nerve conduction velocity in children with spinal muscular atrophy correlated with the disease severity, probably as a result of axonal degeneration. Phenotypic severity in children onset spinal muscular atrophy is directly correlated with the extent of survival motor neuron and neuronal apoptosis inhibitor protein exon deletions