12 research outputs found
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
No full textpeer reviewedSaal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J-P, Jouk P-S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon J-B, Huet F, Thauvin-Robinet C. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. The oral-facial-digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one-third of patients but long-term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the OFD1 gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD - 11/16 (69%) if only adults were considered -with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5-38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25-48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype-phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow-up is therefore highly recommended for all OFD I patients
Differences between European birthweight standards: impact on classification of ‘small for gestational age’
No full textWe describe a quantitative and comparative review of a selection of European birthweight standards for gestational age for singletons, to enable appropriate choices to be made for clinical and research use. Differences between median values at term across standards in 10 regions and misclassification of ‘small for gestational age’ (SGA), were studied. Sex and parity differences, exclusion criteria, and methods of construction were considered. There was wide variation between countries in exclusion criteria, methods of calculating standards, and median birthweight at term. The lightest standards (e.g. France's medians are 255g lower than Norway's medians) were associated with fewer exclusion criteria. Up to 20% of the population used in the construction of the Scottish standard would be classified as SGA using the Norwegian standard. Substantial misclassification of SGA is possible. Assumptions about variation used in the construction of some standards were not justified. It is not possible to conclude that there are real differences in birthweight standards between European countries. Country-based standards control for some population features but add misclassification due to the differing ways in which standards are derived. Standards should be chosen to reflect clinical or research need. If standards stratified by sex or parity are not available, adjustments should be made. In multinational studies, comparisons should be made between results using both a common standard and country-based standards
Recurrent Dominant Mutations Affecting two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity
No full textSpondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucidation so far. We used whole-exome sequencing of five unrelated individuals with lepto-SEMDJL to identify mutations in KIF22 as the cause of this skeletal condition. Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases. The skeletal and connective tissue phenotype produced by these specific mutations point to functions of KIF22 beyond those previously ascribed functions involving chromosome segregation. Although we have found Kif22 to be strongly upregulated at the growth plate, the precise pathogenetic mechanisms remain to be elucidated
The diversity of Hippocampus abdominalis in New Zealand
No full textThis study investigates the diversity and population differentiation of the New Zealand Pot-belly seahorse Hippocampus abdominalis through the utilization of morphological and genetic data. Four microsatellite loci - Habd3, Habd6, Habd7 and Habd9 - and three mitochondrial DNA markers - cytochrome b (814 bp), cytochrome oxidase 1 (624 bp) and control region (404 bp) - in conjunction with quantified morphological features revealed a very high diversity but low population differentiation within New Zealand, suggesting very high levels of gene flow. Some sexual dimorphism was detected, in the terms of shorter snout length and trunk length, and a higher incidence of fronds and spotting in males. A sample size of 166 yielded 31-46 microsatellite alleles and no common multilocus genotypes, and 36-40 new sequences were generated for each mitochondrial DNA marker exposing 14-16 haplotypes, with a maximum of 0.7-2.2% sequence divergence. H. abdominalis were found to be widely dispersed mainly in low density populations. As this species is likely to be facing increased threats from exploitation and habitat degradation in the future it is hoped that this information contributes to the knowledge about H. abdominalis so that future conservation management would be easier to implement
Jääkiekkoilijoiden ensiapukoulutus
No full textTIIVISTELMÄ
Oulun seudun ammattikorkeakoulu
Hoitotyö, Sairaanhoitaja
Tekijä: Anne Helin
Opinnäytetyön nimi: Jääkiekkoilijoiden ensiapukoulutus
Työn ohjaajat: Satu Hakala & Seija Mattila
Työn valmistumislukukausi ja -vuosi: Syksy 2011
Sivumäärä: 34 sivua ja 1 liite
Järjestin opinnäytetyönäni ensiapukoulutuksen Oulun Kärpät 46 ry:n naisten jääkiekko-joukkueelle. Heidän ensiaputaitojen lähtötasonsa oli erittäin huono suhteessa joukkueen pelaajille sattuneiden loukkaantumisten määrään. Jääkiekko on erittäin vauhdikas ja fyysinen laji eikä vammoilta voida kokonaan suojautua. Tämän vuoksi loukkaantumisia sattuu melko paljon, mutta oikealla ensiavulla vammojen parantumista voidaan nopeut-taa merkittävästi.
Järjestin ensiapukoulutuksen, jonka tavoitteena että koulutukseen osallistuvat ihmiset oppivat elottoman ja tajuttoman potilaan sekä ruhjevammojen ja viiltohaavan esiavun. Keskipitkän ajan toiminnallisena tavoitteenani oli saada ihmiset käyttämään oppimiaan taitoja hyväkseen sekä ymmärtämään ensiaputaitojen harjoittelun merkityksen. Pitkän ajan tavoitteenani oli, että koulutukseen osallistuneet henkilöt pystyvät omalla toimin-nallaan auttamaan vammautunutta ihmistä ja lyhentämään tämän sairausaikaa.
Jääkiekon harrastemäärät ovat jatkuvasti kasvaneet, joka näkyy myös lisääntyneinä vammoina. Yleisimpiä vammatyyppejä ovat isku- ja tärähdysvammat, nivelsidevenäh-dykset sekä lihasvammat. Pitämäni koulutus pohjautui jääkiekossa yleisimmin sattuvien vammojen luonteeseen sekä perusensiaputaitojen hallintaan. Koulutuksen sisältöä val-mistellessani käytin lähteenäni ensiapukirjallisuutta ja joukkueen pelaajien kokemuksia sattuneista vammoista.
Toivon, että koulutukseeni osallistuneet pelaajat siirtäisivät oppimiaan taitoja myös niil-le pelaajille, jotka eivät päässeet paikalle. Jatkossa olisi hienoa, jos pelaajat innostuisi-vat kehittämään omia taitojaan myös tulevaisuudessa. Työni oli suunnattu naisten jouk-kueelle, mutta toivon sen innostavan myös muita Kärppä- joukkueita miettimään omia ensiapuvalmiuksiaan.
Asiasanat: Ensiapu, koulutus, projektityö, jääkiekon tyyppivammatABSTRACT
Oulu University of Applied Sciences
Degree programme on Nursing and Health Care, Option in Nursing
Author: Anne Helin
Title of Bachelor’s thesis: First aid training for women’s ice hockey team Oulun Kärpät
Supervisors: Satu Hakala and Seija Mattila
Term and year of completion: Autumn 2011
Number of pages: 34 pages and 1 appendix
The purpose of my thesis was to improve ice hockey players’ first aid skills. The select-ed target group was women’s hockey team from Oulun Kärpät 46. This thesis was im-plemented by organizing a first aid class for the team. Initially players had very weak first aid skills in relation to amount of injuries occurred. Ice hockey is very fast and physical game and injuries do occur despite the precautions. Proper first aid can en-hance healing process significantly.
My objective was to organize first aid class for women’s ice hockey team Oulun Kärpät and improve first aid skills of the players. My functional objective was that after the first aid class participants would be able to give proper first aid when needed and thus speed up the healing process of injured person. My long term functional objective was to get the players to take advantage of their acquired skills and understand the meaning of rehearsing first aid skills.
The numbers of licensed ice hockey players are continuously growing simultaneously with amount of reported injuries. The most common injuries are hit and cushion inju-ries, torned ligaments and muscle injuries. The given first aid class focused on the treatment of most often occurring injuries in ice hockey. While preparing the class I used scientific literature and players’ experiences of injuries as a source.
I hope that participating players would transfer their acquired skills to also those players who were absent. In the future it would be great if players would develop their first aid skills in also other first aid courses. My thesis was directed to women’s team but I hope that this project will raise interest in other teams in Kärpät organization.
Keywords: First aid, training, project work, injuries in ice hocke
Das Problem der unsichtbaren Behinderung - wie können Versorgungslücken bei hörgeschädigten, mehrfachbehinderten Kindern geschlossen werden?
No full textDelineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures
No full textDistal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20-25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 microdeletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously reported cases with a precise mapping of the deletions, documented a 250kb smallest region of overlap (SRO) necessary for DLC. This region contained one gene, EIF4E3, the first three exons of the FOXP1 gene, and an intronic enhancer of FOXP1 named hs1149. Sanger sequencing and locus quantification of hs1149, EIF4E3, and FOXP1 in a cohort of 11 French patients affected by DLC appeared normal. In conclusion, we delineate a new microdeletion syndrome involving the 3p14.1p13 locus and associated with DLC and severe developmental delay. (c) 2014 Wiley Periodicals, Inc
Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity (vol 89, pg 769, 2011)
No full textRecurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity
No full textTurbanella hyalina Schultze 1853
No full textTurbanella hyalina Schultze, 1853 (Figs 11–14; Table 5) Localities: Sites 27, 28, and 29 Materials: 35 specimens (19 adults, 12 subadults, and 4 juvenile), all photographed. The micro-photographs are available in the Natural History Collections at Adam Mickiewicz University in Poznań and in the collection of the first author. Short description: Turbanella hyalina Schultze, 1853, is a medium body-sized species in comparison to other Macrodasyida. The body is slender and tapers towards the posterior end. The head is without distinctly marked conical appendages (palpal organs) and with only a very flat protrusion with a group of sensory cilia on the top and sculptured in front, and a snout-like oral protuberance, bearing a circumcephalic band of cilia. Neck constriction is slight, starting just above the anterior adhesive tubes at U 4 and ending at U 5. Trunk with a slightly wavy appearance, protruding with every lateral adhesive tube and of approximately uniform width, gradually tapering towards caudal lobes. The caudum is small and narrower than the trunk, with a short medial cone. Epidermal glands are from small to medium (1.1–12.2 Μm), usually distributed in two columns. The anterior adhesive tubes are located on the back of the head on short fleshy hands (at U 4). The lateral and dorsal adhesive tubes are predominantly symmetrically distributed around the body on both sides over its entire length. Long sensory cilia and, near the dorsal adhesive tubes, short sensory cilia are connected with each of the lateral adhesive tubes. Additionally, many free sensory cilia (not connected with the adhesive tubes) are located in the trunk region. Posterior adhesive tubes are located on the posterior margin of the caudal lobes. In adults, each caudal lobe bears 5 to 10 adhesive tubes of various lengths. The external tubes are the longest, and the medial tubes the shortest. Sensory cilia are located near the posterior adhesive tubes. Locomotory ciliature runs parallel in two bands from the head to the base of the caudum. The mouth ring is oval, narrow, protruding, located terminally, and surrounded by sensory cilia. The pharynx is cylindrical and expands slightly towards its posterior end. The pharyngeal pores are distinct and located at U 19 –U 22, near the posterior end of the pharynx. The pharynx is connected via the pharyngeal intestinal junction to a straight intestine. Taxonomic remarks: Molecular analysis conducted on the specimens from the northern coast of Europe showed that the morphospecies traditionally referred to as T. hyalina Schultze, 1853, comprises in fact two cryptic species (Kieneke et al. 2012). Considering the rather small geographic area where the specimens of T. hyalina were collected by Kieneke et al. (2012), it is plausible that a wider sampling area can yield a higher number of cryptic species. Furthermore, T. hyalina displays a wide range of morphological variability within the morphospecies. Different populations of T. hyalina may show completely reduced conical appendages (even without a distinct flat contour) or conical appendages developed to the extent that they resemble those found in T. cornuta while retaining species integrity, as was confirmed by an ultrastructural analysis of their nervous system (Rothe & Schmidt-Rhaesa 2008). Differential diagnosis: The genus Turbanella Schultze, 1853, contains 29 similar species. T. hyalina Schultze, 1853, most closely resembles T. cornuta Remane, 1925, T. wiseri Hummon, 2010, and T. lutheri Remane, 1953, but differs from: T. cornuta in terms of: lack of clearly marked conical appendages (palpal organs), the position of the anterior adhesive tubes (the fleshy hands are triangular and longer in T. cornuta), body shape (the body is not as slender and the base of the caudum is more clearly marked in T. cornuta), and head shape (the head is shorter and has more oval shape in T. cornuta). T. wiseri in terms of: a lack of clearly marked conical appendages (palpal organs) and pharynx shape (the pharynx is straight and equally wide along its entire length in T. wiseri); in addition, its mouth is surrounded by only one type of short sensory cilia (Hummon 2010). T. lutheri in terms of: a lack of clearly marked conical appendages (palpal organs) (T. lutheri has no palpal organs whatsoever), body shape (the cephalic and cervical sections are narrower than the dorsal section in T. lutheri), head shape (the head is more rectangular in T. lutheri), a greater number of regularly distributed lateral adhesive tubes (ca. ten pairs of adhesive tubes are in T. lutheri), a smaller number of posterior adhesive tubes (10–11 adhesive tubes in one caudal lobe are in T. lutheri), the distribution and length of adhesive tubes in the caudal lobes (the adhesive tubes are located at the end and on the sides of the caudal lobe, and are of equal length in T. lutheri), and the number and length of the lateral sensory cilia (the lateral sensory cilia are shorter and less numerous in T. lutheri) (Remane 1953; Kisielewski 1975; Rothe & Schmidth- Rhaesa 2008). Distribution: T. hyalina morphospecies is widely distributed in Europe and has been reported in: Belgium (Jouk et al. 1992), Denmark (Karling 1954; Kieneke et al. 2012), France (Müller 2004, Kieneke et al. 2012), Germany (Kieneke et al. 2012; Schultze 1853), Italy (Balsamo & Tongiorgi 1995), the Netherlands (Boaden 1976), Norway (Kieneke et al. 2012), Romania (Rudescu 1967), Sweden (Jansson 1968; Karling 1954; Kieneke et al. 2012), and the United Kingdom (Howson & Picton 1997; Kieneke et al. 2012). found among all specimens measured, SD – standard deviation.Published as part of Kolicka, Małgorzata, Kisielewski, Jacek, Kotwicki, Lech, Zawierucha, Krzysztof & Grzelak, Katarzyna, 2014, Checklist of Gastrotricha of the Polish Baltic Sea with the first reports of Heterolepidoderma joermungandri Kånneby, 2011, and Turbanella hyalina Schultze, 1853, pp. 101-130 in Zootaxa 3869 (2) on pages 120-123, DOI: 10.11646/zootaxa.3869.2.1, http://zenodo.org/record/25112
