Holt Oram syndrome: a registry-based study in Europe.

BACKGROUND: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. METHODS: The study was based on data collected during 1990-2011 by 34 registries. The registries are population-based and use multiple sources of information to collect data on all types of birth using standardized definitions, methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS. RESULTS: A total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8% (20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1% (2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births. CONCLUSIONS: HOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes.

Human finger somatotopy in areas 3b, 1, and 2: A 7T fMRI study using a natural stimulus.

To study the properties of human primary somatosensory (S1) cortex as well as its role in cognitive and social processes, it is necessary to noninvasively localize the cortical representations of the body. Being arguably the most relevant body parts for tactile exploration, cortical representations of fingers are of particular interest. The aim of the present study was to investigate the cortical representation of individual fingers (D1-D5), using human touch as a stimulus. Utilizing the high BOLD sensitivity and spatial resolution at 7T, we found that each finger is represented within three subregions of S1 in the postcentral gyrus. Within each of these three areas, the fingers are sequentially organized (from D1 to D5) in a somatotopic manner. Therefore, these finger representations likely reflect distinct activations of BAs 3b, 1, and 2, similar to those described in electrophysiological work in non-human primates. Quantitative analysis of the local BOLD responses revealed that within BA3b, each finger representation is specific to its own stimulation without any cross-finger responsiveness. This finger response selectivity was less prominent in BA 1 and in BA 2. A test-retest procedure highlighted the reproducibility of the results and the robustness of the method for BA 3b. Finally, the representation of the thumb was enlarged compared to the other fingers within BAs 1 and 2. These findings extend previous human electrophysiological and neuroimaging data but also reveal differences in the functional organization of S1 in human and nonhuman primates. Hum Brain Mapp 35:213-226, 2014. © 2012 Wiley Periodicals, Inc.

Estratégias ótimas de irrigação para a cultura da melancia

O trabalho teve como objetivo determinar estratégias ótimas de irrigação para a cultura da melancia (Citrullus lanatus Thumb. Mansf.), considerando a água como fator limitante da produção e diferentes valores para o preço do produto e custos da energia elétrica. Utilizou-se uma função de produção quadrática e função de custo linear obtidas para as condições edafoclimáticas dos Tabuleiros Costeiros do Piauí. A irrigação com déficit proporcionou as maiores rendas líquidas, com significativa economia de água, no intervalo de variação de preços do produto de US$ 0,05 kg-1 a US$ 0,35 kg-1, nas três formas de tarifação da energia elétrica. Acima desse intervalo, deve-se utilizar a lâmina que maximiza a produção de frutos.

Scour Around Bridge Piers and Abutments, HR-30 and Iowa Highway Research Board Bulletin No. 4, 1956

Man’s never-ending search for better materials and construction methods and for techniques of analysis and design has overcome most of the early difficulties of bridge building. Scour of the stream bed, however, has remained a major cause of bridge failures ever since man learned to place piers and abutments in the stream in order to cross wide rivers. Considering the overall complexity of field conditions, it is not surprising that no generally accepted principles (not even rules of thumb) for the prediction of scour around bridge piers and abutments have evolved from field experience alone. The flow of individual streams exhibits a manifold variation, and great disparity exists among different rivers. The alignment, cross section, discharge, and slope of a stream must all be correlated with the scour phenomenon, and this in turn must be correlated with the characteristics of the bed material ranging from clays and fine silts to gravels and boulders. Finally, the effect of the shape of the obstruction itself-the pier or abutment-must be assessed. Since several of these factors are likely to vary with time to some degree, and since the scour phenomenon as well is inherently unsteady, sorting out the influence of each of the various factors is virtually impossible from field evidence alone. The experimental approach was chosen as the investigative method for this study, but with due recognition of the importance of field measurements and with the realization that the results must be interpreted so as to be compatible with the present-day theories of fluid mechanics and sediment transportation. This approach was chosen because, on the one hand, the factors affecting the scour phenomenon can be controlled in the laboratory to an extent that is not possible in the field, and, on the other hand, the model technique can be used to circumvent the present inadequate understanding of the phenomenon of the movement of sediment by flowing water. In order to obtain optimum results from the laboratory study, the program was arranged at the outset to include a related set of variables in each of several phases into which the whole problem was divided. The phases thus selected were : 1. Geometry of piers and abutments, 2. Hydraulics of the stream, 3. Characteristics of the sediment, 4. Geometry of channel shape and alignment.

Aikakauslehtien kilpailukyky Suomessa ja Hollannissa

Tutkimuksen tavoitteena oli tutkia aikakauslehden konseptimallia ja sen vaikutusta aikakauslehden kilpailukykyyn. Konseptimalli koostuu aikakauslehden tekijöiden tiiviistä kolmikantaisesta yhteistyöverkosta: lehden toimituksellisesta sisällöstä, levikkimarkkinoinnista kuluttajille sekä ilmoitusmyynnistä mainostajille. Tutkimuksen lähestymistavaksi otettiin Case-pohjainen menetelmä. Tutkimuksen pääinformaatio kerättiin haastattelemalla valittujen aikakauslehtien vastuuhenkilöitä etukäteen valmistellun kysymyslistan mukaan. Haastatellut henkilöt olivat pääsääntöisesti markkinointipäälliköitä. Tutkimukseen otettiin mukaan yhdeksän aikakauslehteä kahdesta maasta. Viisi Suomesta ja neljä Hollannista. Lehdet pyrittiin valitsemaan niin, että niistä muodostui vastinparit näiden kahden maan välille. Lehdistä muodostettiin haastattelujen avulla konseptikuvaukset, joita sitten täydennettiin lisäanalyysein. Tutkimuksessa kartoitettiin yleisimpien markkinaosuus-, kilpailuedun- sekä massa- ja asiakaskohtaisten teorioiden piirteitä tarkoituksena löytää tutkimukseen sopivin teoriapohja. Vaikka olemassa olevista teorioista löydettiin sopivuuksia, päädyttiin kuitenkin aikakauslehden konseptimallin käyttöön, koska se on alalla vakiintunut käytäntö. Valituille lehdille tehtiin myös elinkaarianalyysi. Yleisenä tuloksena havaittiin, että mitä vanhempi lehti on sitä todennäköisemmin sen levikki on joko vakiintuneessa tai laskevassa vaiheessa. Konseptianalyysissä Suomen ja Hollannin lehtiä verrattiin tarkoituksena löytää samankaltaisuudet ja eroavaisuudet. Kummankin maan aikakauslehdet olivat pääsääntöisesti samanlaisia, mutta monia eroavaisuuksiakin esiintyi. Erot löytyivät pääasiassa yksityiskohdista ja lehtien erilaisista kulttuurillisista lähestymistavoista. Konseptianalyysejä täydennettiin lisäksi erinäisin lisäanalyysein. Kun konseptikuvaukset kertoivat millaisesta lehdestä on kyse, lisäanalyysit kertoivat lehteen sidoksista olevista asioista. Tutkimuksessa tarkasteltiin aikakauslehden asemaa yleisessä mediakentässä ja todettiin, että aikakauslehti on pitänyt hyvin pintansa muiden medioiden puristuksessa. Selkeä piirre oli aikakauslehtien mainonnan lisääntyminen 1990-luvun aikana lähinnä sanomalehtien kustannuksella. Valittujen lehtien kilpailukyvyn asemaa pyrittiin myös arvioimaan sekä kuluttajan että ilmoittajan näkökulmasta. Kuluttajien näkökulmaa kartoitti aikakauslehtien tilaushyötyjen tarkastelu, jossa todettiin lehtien irtonumerohintojen olevan usein hyvin lähellä tilaushintoja. Ilmoittajien näkökulmaa luotasi ilmoitusten alennuksista kertova osuus, missä ilmoitushintojen todettiin joustavan hyvin paljon mainostettavan määrän lisääntyessä.

Distinct contributions of Brodmann areas 1 and 2 to body ownership.

Although body ownership-i.e. the feeling that our bodies belong to us-modulates activity within the primary somatosensory cortex (S1), it is still unknown whether this modulation occurs within a somatotopically defined portion of S1. We induced an illusory feeling of ownership for another person's finger by asking participants to hold their palm against another person's palm and to stroke the two joined index fingers with the index and thumb of their other hand. This illusion (numbness illusion) does not occur if the stroking is performed asynchronously or by the other person. We combined this somatosensory paradigm with ultra-high field functional magnetic resonance imaging finger mapping to study whether illusory body ownership modulates activity within different finger-specific areas of S1. The results revealed that the numbness illusion is associated with activity in Brodmann area (BA) 1 within the representation of the finger stroking the other person's finger and in BA 2 contralateral to the stroked finger. These results show that changes in bodily experience modulate the activity within certain subregions of S1, with a different finger-topographical selectivity between the representations of the stroking and of the stroked hand, and reveal that the high degree of somatosensory specialization in S1 extends to bodily self-consciousness.

Extracellular Subunit Interactions Control Transitions between Functional States of Acid-sensing Ion Channel 1a.

Acid-sensing ion channels (ASICs) are neuronal, voltage-independent Na(+) channels that are transiently activated by extracellular acidification. They are involved in pain sensation, the expression of fear, and in neurodegeneration after ischemic stroke. Our study investigates the role of extracellular subunit interactions in ASIC1a function. We identified two regions involved in critical intersubunit interactions. First, formation of an engineered disulfide bond between the palm and thumb domains leads to partial channel closure. Second, linking Glu-235 of a finger loop to either one of two different residues of the knuckle of a neighboring subunit opens the channel at physiological pH or disrupts its activity. This suggests that one finger-knuckle disulfide bond (E235C/K393C) sets the channel in an open state, whereas the other (E235C/Y389C) switches the channel to a non-conducting state. Voltage-clamp fluorometry experiments indicate that both the finger loop and the knuckle move away from the β-ball residue Trp-233 during acidification and subsequent desensitization. Together, these observations reveal that ASIC1a opening is accompanied by a distance increase between adjacent thumb and palm domains as well as a movement of Glu-235 relative to the knuckle helix. Our study identifies subunit interactions in the extracellular loop and shows that dynamic changes of these interactions are critical for normal ASIC function.

Labyrinthine fenestration for stapes fixation in chronic ear disease others than otosclerosis.

The objective of this study is to assess the results of labyrinthine fenestration for fixed stapes in chronic ear disease. Using a prospective database, pre- and postoperative audiometric data from patients undergoing labyrinthine fenestration for fixation of the stapes in chronic ear disease others than otosclerosis between 2002 and 2012 were evaluated. Twenty-three labyrinthine fenestrations in chronic ear disease were performed (17 malleo-stapedotomies, 4 incus-stapedotomies, 1 neo-malleus-stapedotomy, 1 TORP-stapedotomy). Overall, the mean short-term (2 months) and long-term (42 months) postoperative air-bone gap (0.5-3 kHz) were 17.5 and 16.5 dB, respectively; long-term air-bone gap of <20 dB was obtained in 73 % of patients. There was no significant difference in air-bone gap closure between tympanosclerotic and post inflammatory osteogenic fixation of the stapes (p = 0.267). Hearing benefit success using the 'Belfast rule of the thumb' was achieved in 48 %. Normal bilateral hearing was achieved in 17 % and bilateral symmetric hearing impairment in 26 %. Only in 4 %, bone conduction worsened by more than 5 dB. Labyrinthine fenestration is an option in selected cases of stapes fixation in chronic ear disease and provides hearing gain without significant risk for sensorineural hearing loss. In those already selected cases, hearing benefit success 'Belfast rule of the thumb' is achieved only in half of the cases. This and the possible alternatives, should therefore be discussed preoperatively.

Lujasta teräksestä valmistetun palkin poikkileikkauksen optimointi

Parin viime vuosikymmenen aikana on kehitetty huomattavasti entistä lujempia teräslaatuja, joiden käyttö ei kuitenkaan ole yleistynyt läheskään samaan tahtiin. Korkeamman hinnan lisäksi yksi merkittävä syy tähän on, että suunnittelijoilla ei usein ole riittäviä tietoja siitä, millaisissa tilanteissa lujemman teräslaadun käytöstä on merkittävää hyötyä. Tilannetta ei myöskään helpota se, että käytössä olevat standardit eivät tarjoa lainkaan ohjeistusta kaikkein lujimpien, myötörajaltaan yli 700MPa terästen käyttöön ja mitoitukseen. Tässä työssä pyritään tarjoamaan suunnittelijalle ohjeita ja nyrkkisääntöjä sopivan lujuusluokan ja profiilin valintaan sekä yleisesti lujempien teräslaatujen käyttöön. Lujemman teräslaadun käytöllä voidaan keventää suunniteltavaa rakennetta ja saada aikaan huomattavia painonsäästöjä. Usein ongelmaksi nousevat kuitenkin stabiiliuskriteerit, sillä teräksen lommahduskestävyys määräytyy suuresti sen lujuusluokasta siten, että mitä lujempaa teräs on, sitä helpommin se lommahtaa. Kun tämä yhdistetään siihen, että lujempaa terästä käytettäessä rakenteesta tulee optimoituna muutenkin pienempi ja kevyempi, kasvaa näiden kahden asian yhteisvaikutuksena kantokyvyn mukaan mitoitetun rakenteen taipuma korkeampiin lujuusluokkiin edetessä hyvin nopeasti sallittujen rajojen yli. Työssä etsitään siksi keinoja sopivan kompromissin löytämiseksi lujuuden ja jäykkyyden välille. Koska muotoilulla ja poikkileikkauksella on suuri merkitys sekä taipuman että stabiliteetin kannalta, tutkitaan erilaisia poikkileikkausvaihtoehtoja ja etsitään optimaalista poikkileikkausta taivutuspalkille matemaattisen optimointimallin avulla. Kun eri poikkileikkausvaihtoehdot on käsitelty ja optimoitu taivutuksen suhteen, tutkitaan poikkileikkauksia myös muissa kuormitustapauksissa. Huomattavan raskaan laskentatyön takia apuna käytetään Matlab-ohjelmistoa itse optimointiin ja Femap-ohjelmaa muiden kuormitustapausten tutkimiseen ja tulosten verifioitiin.

An extract of Polygonum multiflorum protects against free radical damage induced by ultraviolet B irradiation of the skin

Over the last decades, the incidence of ultraviolet B (UVB)-related skin problems has been increasing. Damages induced by UVB radiation are related to mutations that occur as a result of direct DNA damage and/or the production of reactive oxygen species. We investigated the anti-oxidant effects of a Polygonum multiflorum thumb extract against skin damage induced by UVB irradiation. Female SKH-1 hairless mice were divided into three groups: control (N = 7), distilled water- (N = 10), and P. multiflorum extract-treated (PM, N = 10) groups. The PM (10 g) was extracted with 100 mL distilled water, cryo-dried and 9.8 g was obtained. The animals received a topical application of 500 µL distilled water or PM extract (1, 2, 4, 8, and 16%, w/v, dissolved in distilled water) for 30 min after UVB irradiation (wavelength 280-320 nm, 300 mJ/cm²; 3 min) of the dorsal kin for 14 days, and skin immunohistochemistry and Cu,Zn-superoxide dismutase (SOD1) activity were determined. SOD1 immunoreactivity, its protein levels and activities in the skin were significantly reduced by 70% in the distilled water-treated group after UVB irradiation compared to control. However, in the PM extract-treated groups, SOD1 immunoreactivity and its protein and activity levels increased in a dose-dependent manner (1-16%, w/v, PM extract) compared to the distilled water-treated group. SOD1 protein levels and activities in the groups treated with 8 and 16%, w/v, PM extract recovered to 80-90% of the control group levels after UVB. These results suggest that PM extract strongly inhibits the destruction of SOD1 by UV radiation and probably contains anti-skin photoaging agents.

Corruption, income, and rule of law: empirical evidence from developing and developed economies

This article presents an empirical analysis based on cross-country data concerned with two points regarding corruption: (i) its effects on income; and (ii) how to mitigate corruption. The findings can be highlighted in two points. Firstly the idea that corruption is intrinsically connected with income is confirmed. Secondly, the traditional argument that an increase in rule of law represents a good strategy in the fight against corruption is valid for developing countries. Furthermore, this study reveals that the search for increasing the human development index represents a rule of thumb for high levels of income and to control corruption.

Convenience of scallops in plate structures

In this thesis was performed comprehensive study about the convenience of scallops in plate structures. A literature review was performed and lack of knowledge was fulfilled with fatigue tests performed in the laboratory of Steel Structures at the Lappeenranta University of Technology and with finite element method. The aim of this thesis was to produce design guidance for the use of scallops for different structural details and different loading conditions. An additional aim was to include more precise instructions for scallop design to produce good fatigue resistance and appropriate manufacturing quality. The literature review was performed searching bridge engineering and maritime standards and design guides and studies from scientific databases and reference lists from the literature of this field. Fatigue tests were used to research the effect of using scallops or not using scallops to fatigue strength of bracket specimen. Tests were performed on three specimens with different scallop radii and to five specimens without scallops with different weld penetration depths. Finite element method using solid elements, symmetry and submodels was used to determine stress concentration factors for I-beams with scallops. Stresses were defined with hot spot stress method. Choosing to use a scallop or not in the structure is affected by many factors, such as structural and loading conditions and manufacturability. As a rule of thumb, scallops should be avoided because those cause stress concentration points to the structure and take a lot of time to manufacture. When scallops are not used, good quality welding should be provided and full weld penetration is recommended to be used in load carrying corner weld areas. In some cases, it is advisable to use scallops. In that case, circular scallops are recommended to be used and radius should be chosen from fatigue strength or manufacturing point of view.

Diminution de la performance motrice du membre ipsilatéral au site de l’accident vasculaire cérébral lors de tâches bilatérales

Suite à un accident vasculaire cérébral (AVC), des déficits au membre controlatéral et ipsilatéral à la lésion cérébrale sont observés chez les personnes avec un AVC. La performance du membre ipsilatéral est déterminée par l’importance de la sévérité clinique du membre controlatéral ainsi que par l’adéquation du traitement bihémisphérique des informations sensori-motrices. L’objectif de la présente étude est de comparer la performance motrice de la main ipsilatérale lors de diverses tâches nécessitant un niveau plus ou moins complexe de traitement de l’information chez une clientèle hémiplégique ayant une faible sévérité clinique. Les résultats démontrent que les forces de pinces entre le pouce et l’index du membre ipsilatéral sont modulées et anticipées adéquatement chez les personnes avec un AVC ayant une faible sévérité clinique tel que démontré par des scores de cinq ou plus au Chedoke-McMaster Stroke Assessment (modules bras et main). La performance motrice du membre ipsilatéral lors de l’exécution d’une tâche de coordination bilatérale est comparable à celle du membre dominant des sujets sains lorsque la tâche est réalisée sans interaction entre les membres supérieurs (deux objets) et elle est perturbée lorsqu’elle implique une action coordonnée et réciproque des membres supérieurs sur un même objet. Ces personnes, ayant une bonne récupération motrice, ont donc une problématique centrale d’intégration et de traitement de l’information sensori-motrice lorsqu’il y a une complexification de la tâche à réaliser. Ces résultats suggèrent donc que les cliniciens devraient porter une attention plus particulière aux activités unilatérales et de coordination bilatérales lors le l’exécution de tâches complexes nécessitant un niveau d’intégration sensori-motrice élevé.

Qualitative Air Flow Modelling and Analysis of Data Centre Air Conditioning as Multiple Jet Array

Data centre is a centralized repository,either physical or virtual,for the storage,management and dissemination of data and information organized around a particular body and nerve centre of the present IT revolution.Data centre are expected to serve uniinterruptedly round the year enabling them to perform their functions,it consumes enormous energy in the present scenario.Tremendous growth in the demand from IT Industry made it customary to develop newer technologies for the better operation of data centre.Energy conservation activities in data centre mainly concentrate on the air conditioning system since it is the major mechanical sub-system which consumes considerable share of the total power consumption of the data centre.The data centre energy matrix is best represented by power utilization efficiency(PUE),which is defined as the ratio of the total facility power to the IT equipment power.Its value will be greater than one and a large value of PUE indicates that the sub-systems draw more power from the facility and the performance of the data will be poor from the stand point of energy conservation. PUE values of 1.4 to 1.6 are acievable by proper design and management techniques.Optimizing the air conditioning systems brings enormous opportunity in bringing down the PUE value.The air conditioning system can be optimized by two approaches namely,thermal management and air flow management.thermal management systems are now introduced by some companies but they are highly sophisticated and costly and do not catch much attention in the thumb rules.

Embodiment and Manipulation Learning Process for a Humanoid Hand

Babies are born with simple manipulation capabilities such as reflexes to perceived stimuli. Initial discoveries by babies are accidental until they become coordinated and curious enough to actively investigate their surroundings. This thesis explores the development of such primitive learning systems using an embodied light-weight hand with three fingers and a thumb. It is self-contained having four motors and 36 exteroceptor and proprioceptor sensors controlled by an on-palm microcontroller. Primitive manipulation is learned from sensory inputs using competitive learning, back-propagation algorithm and reinforcement learning strategies. This hand will be used for a humanoid being developed at the MIT Artificial Intelligence Laboratory.