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Sample records for congenital fiber type

  1. HLA typing in congenital toxoplasmosis.

    PubMed Central

    Meenken, C; Rothova, A; de Waal, L P; van der Horst, A R; Mesman, B J; Kijlstra, A

    1995-01-01

    HLA-A, HLA-B, HLA-C, and HLA-D typing was performed in 47 mothers of patients suffering from ocular toxoplasmosis to investigate whether an immunogenetic predisposition exists for developing congenital toxoplasmosis in their offspring. No significant association between any HLA antigen was observed in the mothers of patients with ocular toxoplasmosis, although a total absence of the HLA-B51 antigen was found in this group. HLA-A, HLA-B, and HLA-C typing was also performed in their children (52 patients with ocular toxoplasmosis), to investigate a possible relation between the severity of ocular toxoplasmosis and an eventual immunogenetic factor. In the patients with ocular toxoplasmosis an increased frequency of the HLA-Bw62 antigen was observed in correlation with severe ocular involvement. PMID:7612565

  2. Genetics Home Reference: congenital bile acid synthesis defect type 1

    MedlinePlus

    ... bile acid synthesis defect type 1 congenital bile acid synthesis defect type 1 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 1 is a disorder characterized ...

  3. Genetics Home Reference: congenital bile acid synthesis defect type 2

    MedlinePlus

    ... bile acid synthesis defect type 2 congenital bile acid synthesis defect type 2 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 2 is a disorder characterized ...

  4. Congenital cystic adenomatoid malformation type I

    PubMed Central

    Ribeiro, Frederico Becker; Schultz, Regina

    2015-01-01

    Congenital cystic adenomatoid malformation (CCAM) is an hamartomatous congenital pulmonary airway malformation with incidence ranging between 1:10,000 and 1:35,000 newborns. Currently CCAM is classified into five groups according to clinical and pathological features. The clinical outcome varies depending on the subtype and the extent of involvement. The authors report the case of a premature male newborn with the prenatal diagnosis of CCAM Type 1 associated with cardiac right axis deviation, who died 67 hours after birth due to respiratory failure. In addition to the autopsy report of this rare entity, the authors present its classification and prognosis. PMID:26558243

  5. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2015-10-26

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  6. Muscle Fiber Types and Training.

    ERIC Educational Resources Information Center

    Karp, Jason R.

    2001-01-01

    The specific types of fibers that make up individual muscles greatly influence how people will adapt to their training programs. This paper explains the complexities of skeletal muscles, focusing on types of muscle fibers (slow-twitch and fast-twitch), recruitment of muscle fibers to perform a motor task, and determining fiber type. Implications…

  7. Congenital Nephrotic Syndrome – Finish Type

    PubMed Central

    Spahiu, Lidvana; Merovci, Besart; Jashari, Haki; Këpuska, Arbnore Batalli; Rugova, Blerta Elezi

    2016-01-01

    Introduction: Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%. Case report: This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive. Genetic analysis revealed NHPS1 gene mutation leading to CNS-Finnish type diagnosis. Conclusion: Through this case we want to create awareness about diagnosis and treatment challenges in developing countries for rare congenital diseases. PMID:27594755

  8. Congenital Myopathy

    MedlinePlus

    ... arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core ... difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare ...

  9. Solitary Type of Congenital Self-healing Reticulohistiocytosis

    PubMed Central

    Dorjsuren, Gantsetseg; Kim, Hee Jung; Jung, Jin Young; Bae, Byung Gi

    2011-01-01

    Congenital self-healing reticulohistiocytosis is a rare, congenital, benign, self-healing variant of Langerhans cell histiocytosis. It usually appears as multiple papules or nodules; however, occurrence of the solitary type is very rare. We report on a case of solitary congenital self-healing reticulohistiocytosis in a 29-day-old girl who presented with a papule on her sole. Two months later, the lesion regressed with a slight scar. Based upon clinical and histologic findings, we made a diagnosis of solitary congenital self-healing reticulohistiocytosis. In this report, we summarized reported cases of solitary congenital self-healing retioculohistiocytosis in Korea with a review of the literature. PMID:22028569

  10. Mutations in TPM2 and congenital fibre type disproportion.

    PubMed

    Clarke, Nigel F; Waddell, Leigh B; Sie, Lilian T L; van Bon, Bregje W M; McLean, Catriona; Clark, Damian; Kornberg, Andrew; Lammens, Martin; North, Kathryn N

    2012-11-01

    The main diagnostic feature of congenital fibre type disproportion is that type 1 fibres are consistently smaller than type 2 fibres in the absence of other histological abnormalities. Mutations in the TPM3, RYR1 and ACTA1 genes are the most common established genetic causes. There has been one previous report of congenital fibre type disproportion due to a mutation in TPM2, although some atypical histological features were present. We present two cases in which novel de novo missense mutations in TPM2 are associated with marked fibre size disproportion. The finding of typical histological changes of congenital fibre type disproportion in association with a p.Ser61Pro mutation confirms that TPM2 can cause typical congenital fibre type disproportion. Although not seen on light microscopy studies, protein inclusions typical of small 'caps' were found on electron microscopy in a second patient with a p.Ala155Val mutation in TPM2. This case emphasises the importance of electron microscopy in patients with presumed congenital fibre type disproportion, to exclude the presence of caps, nemaline bodies or minicores, which, if present, may be very helpful in guiding genetic analysis. PMID:22832343

  11. [Congenital H-type tracheoesophageal fistula].

    PubMed

    Raos, M; Koncul, I; Javorović, B

    1996-01-01

    A 12-year-old girl with H-type tracheoesophageal fistula is presented. The fistula was proven by bronchoscopic, oesophageoscopic and radiographic (with contrast medium) studies. As a sucking child the girl was operated, but there is no medical documentation (the girl is a displaced person). The question remains whether it is a primary or recurrent fistula.

  12. [Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].

    PubMed

    Sätilä, Heli; Kuusela, Anna-Leena; Pietilä, Kati; Niinikoski, Harri; Keskinen, Päivi

    2016-01-01

    Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorders caused by defective glycosylation of N-glycosylated proteins. They mainly involve the central and peripheral nervous system, but other organ systems are involved as well. Type CDG Ia accounts for over 80% of cases, characterized by decreased activity of the enzyme phosphomannomutase caused by mutations in chromosome 16 PMM2 gene. Treatment of CDG Ia remains symptomatic.

  13. Fiber-type dosimeter with improved illuminator

    DOEpatents

    Fox, R.J.

    1985-12-23

    A single-piece, molded plastic, Cassigrainian-type condenser arrangement is incorporated in a tubular-shaped personal pocket dosimeter of the type which combines an ionization chamber with an optically-read fiber electrometer to provide improved illumination of the electrometer fiber. The condenser routes incoming light from one end of the dosimeter tubular housing around a central axis charging pin assembly and focuses the light at low angles to the axis so that it falls within the acceptance angle of the electrometer fiber objective lens viewed through an eyepiece lens disposed in the opposite end of the dosimeter. This results in improved fiber illumination and fiber image contrast.

  14. Fiber-type dosimeter with improved illuminator

    DOEpatents

    Fox, Richard J.

    1987-01-01

    A single-piece, molded plastic, Cassigrainian-type condenser arrangement is incorporated in a tubular-shaped personal pocket dosimeter of the type which combines an ionization chamber with an optically-read fiber electrometer to provide improved illumination of the electrometer fiber. The condenser routes incoming light from one end of the dosimeter tubular housing around a central axis charging pin assembly and focuses the light at low angles to the axis so that it falls within the acceptance angle of the electrometer fiber objective lens viewed through an eyepiece lens disposed in the opposite end of the dosimeter. This results in improved fiber illumination and fiber image contrast.

  15. Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia.

    PubMed

    Fujino, Hisanori; Doisaki, Sayoko; Park, Young-Dong; Hama, Asahito; Muramatsu, Hideki; Kojima, Seiji; Sumimoto, Shinichi

    2013-05-01

    The congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of genetic disorders of red cell production. They are characterized by ineffective erythropoiesis and dyserythropoiesis. Here, we present the clinical description and mutation analysis of a Japanese female with CDA type 1. She has long been diagnosed with unclassified congenital hemolytic anemia from the neonatal period. However, bone marrow morphology and genetic testing of the CDAN1 gene at the age of 12 years confirmed the afore-mentioned diagnosis. Thus, we should be aware of the possibility of CDA if the etiology of congenital anemia or jaundice cannot be clearly elucidated.

  16. Type II congenital pulmonary airway malformation in an esophageal lung

    PubMed Central

    Martínez-Martínez, Blanca Estela; Furuya, María Elena Yuriko; Martínez-Muñiz, Irma; Vargas, Mario H; Flores-Salgado, Rosalinda

    2013-01-01

    A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung. PMID:23762890

  17. Erythrocyte Membrane Antigen Frequencies in Patients with Type II Congenital Smell Loss

    PubMed Central

    Stateman, William A.; Henkin, Robert I.; Knöppel, Alexandra; Flegel, Willy A.

    2014-01-01

    OBJECTIVE The objective of this study was to determine whether there are genetic factors associated with Type II congenital smell loss. STUDY DESIGN The expression frequencies of 16 erythrocyte antigens among patients with Type II congenital smell loss were determined and compared to those of a large control group. METHODS Blood samples were obtained from 99 patients with Type II congenital smell loss. Presence of the erythrocyte surface antigens A, B, M, N, S, s, Fya, Fyb, D, C, c, E, e, K, Jka, and Jkb was analyzed by blood group serology. Comparisons of expression frequencies of these antigens were made between the patients and a large control group. RESULTS Patients tested for the Duffy b antigen (Fyb haplotype) exhibited a statistically significant 11% decrease in expression frequency compared to the controls. There were no significant differences between patients and controls in the expression frequencies for all other erythrocyte antigens (A, B, M, N, S, s, Fya, D, C, c, E, e, K, Jka, or Jkb). CONCLUSIONS These findings describe the presence of a previously unrevealed genetic tendency among patients with Type II congenital smell loss related to erythrocyte surface antigen expression. The deviation in expression rate of Duffy b suggests a target gene and chromosome region in which future research into this form of congenital smell loss may reveal a more specific genetic basis for Type II congenital smell loss. PMID:25456515

  18. Atypical Porcine Pestivirus: A Possible Cause of Congenital Tremor Type A-II in Newborn Piglets

    PubMed Central

    de Groof, Ad; Deijs, Martin; Guelen, Lars; van Grinsven, Lotte; van Os-Galdos, Laura; Vogels, Wannes; Derks, Carmen; Cruijsen, Toine; Geurts, Victor; Vrijenhoek, Mieke; Suijskens, Janneke; van Doorn, Peter; van Leengoed, Leo; Schrier, Carla; van der Hoek, Lia

    2016-01-01

    Congenital tremor type A-II in piglets has been regarded as a transmissible disease since the 1970s, possibly caused by a very recently-described virus: atypical porcine pestivirus (APPV). Here, we describe several strains of APPV in piglets with clinical signs of congenital tremor (10 of 10 farms tested). Piglets on a farm with no history of congenital tremor were PCR-negative for the virus. To demonstrate a causal relationship between APPV and disease, three gilts were inoculated via intramuscular injection at day 32 of pregnancy. In two of the three litters, vertical transmission of the virus occurred. Clinical signs of congenital tremor were observed in APPV-infected newborns, yet also two asymptomatic carriers were among the offspring. Piglets of one litter were PCR-negative for the virus, and these piglets were all without congenital tremors. Long-term follow up of farm piglets born with congenital tremors showed that the initially high viremia in serum declines at five months of age, but shedding of the virus in feces continues, which explains why the virus remains present at affected farms and causes new outbreaks. We conclude that trans-placental transmission of APPV and subsequent infection of the fetuses is a very likely cause of congenital tremor type A-II in piglets. PMID:27782037

  19. Genetics Home Reference: congenital fiber-type disproportion

    MedlinePlus

    ... or a spine that curves to the side ( scoliosis ). Approximately 30 percent of people with this disorder ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  20. Congenital myopathy with abundant ring fibres, rimmed vacuoles and inclusion body myositis-type inclusions.

    PubMed

    Fidziańska, A; Kamińska, A

    2003-02-01

    We report a 17-year-old girl with an unusual neuromuscular disorder characterised by slowly progressive proximal muscle weakness whose muscle biopsy showed multiple ring fibres and numerous rimmed vacuoles as well as intracytoplasmic and intranuclear inclusions of the inclusion body myositis-type. The clinical features of the presented case, manifested by the onset of the disease in early childhood, delayed motor development, short stature, lordosis and joint contractures were suggestive of congenital myopathy. The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.

  1. Contractile properties of single permeabilized muscle fibers from congenital cleft palates and normal palates of Spanish goats

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A goat model in which cleft palate is induced by the plant alkaloid, anabasine was used to determine muscle fiber integrity of the levator veli palatine muscle. It was determined that the muscle fibers of the cleft palate-induced goats were primarily of the type 2 (fast fibers) which fatigue easil...

  2. Improving human skeletal muscle myosin heavy chain fiber typing efficiency.

    PubMed

    Murach, Kevin A; Bagley, James R; McLeland, Kathryn A; Arevalo, Jose A; Ciccone, Anthony B; Malyszek, Kylie K; Wen, Yuan; Galpin, Andrew J

    2016-04-01

    Single muscle fiber sodium dodecyl sulfate polyacrylamide gel-electrophoresis (SDS-PAGE) is a sensitive technique for determining skeletal muscle myosin heavy chain (MHC) composition of human biopsy samples. However, the number of fibers suitable to represent fiber type distribution via this method is undefined. Muscle biopsies were obtained from the vastus lateralis (VL) of nine resistance-trained males (25 ± 1 year, height = 179 ± 5 cm, mass = 82 ± 8 kg). Single fiber MHC composition was determined via SDS-PAGE. VL fiber type distribution [percent MHC I, I/IIa, IIa, IIa/IIx, and total "hybrids" (i.e. I/IIa + IIa/IIx)] was evaluated according to number of fibers analyzed per person (25 vs. 125). VL fiber type distribution did not differ according to number of fibers analyzed (P > 0.05). VL biopsy fiber type distribution of nine subjects is represented by analyzing 25 fibers per person. These data may help minimize cost, personnel-time, and materials associated with this technique, thereby improving fiber typing efficiency in humans. PMID:26842420

  3. Type IV congenital laryngeal web: Case report and 15 year follow up.

    PubMed

    Sorichetti, Brendan; Moxham, John P; Kozak, Frederick K

    2016-01-01

    A five day old patient with mild VACTERL syndrome had repair of a type IV congenital laryngeal web with successful decannulation 76 days later. Voice and respiratory outcome is good with follow up 15 years later. This case presents a rare clinical finding of a type IV laryngeal web successfully repaired with a keel and subsequent long term follow up during an era when it was suggested that repair be delayed until 18 months of age at the earliest. PMID:26954872

  4. Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

    PubMed

    Westland, Rik; Hack, Wilfried W; van der Horst, Henricus J R; Uittenbogaard, Lukas B; van Hagen, Johanna M; van der Valk, Paul; Kamsteeg, Erik J; van den Heuvel, Lambert P; van Wijk, Joanna A E

    2012-12-01

    Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management.

  5. Genetics of Congenital Cataract.

    PubMed

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  6. Contraction-induced injury to single permeabilized muscle fibers from normal and congenitally-clefted goat palates

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A goat model in which cleft palate is induced by the plant alkaloid, anabasine was used to determine muscle fiber integrity of the levator veli palatine (LVP) muscle. It was determined that muscle fiber type, size, and sensitivity to contraction-induced injury was different between cleft palate ind...

  7. Highly Conductive Graphene/Ag Hybrid Fibers for Flexible Fiber-Type Transistors.

    PubMed

    Yoon, Sang Su; Lee, Kang Eun; Cha, Hwa-Jin; Seong, Dong Gi; Um, Moon-Kwang; Byun, Joon-Hyung; Oh, Youngseok; Oh, Joon Hak; Lee, Wonoh; Lee, Jea Uk

    2015-01-01

    Mechanically robust, flexible, and electrically conductive textiles are highly suitable for use in wearable electronic applications. In this study, highly conductive and flexible graphene/Ag hybrid fibers were prepared and used as electrodes for planar and fiber-type transistors. The graphene/Ag hybrid fibers were fabricated by the wet-spinning/drawing of giant graphene oxide and subsequent functionalization with Ag nanoparticles. The graphene/Ag hybrid fibers exhibited record-high electrical conductivity of up to 15,800 S cm(-1). As the graphene/Ag hybrid fibers can be easily cut and placed onto flexible substrates by simply gluing or stitching, ion gel-gated planar transistors were fabricated by using the hybrid fibers as source, drain, and gate electrodes. Finally, fiber-type transistors were constructed by embedding the graphene/Ag hybrid fiber electrodes onto conventional polyurethane monofilaments, which exhibited excellent flexibility (highly bendable and rollable properties), high electrical performance (μh = 15.6 cm(2) V(-1) s(-1), Ion/Ioff > 10(4)), and outstanding device performance stability (stable after 1,000 cycles of bending tests and being exposed for 30 days to ambient conditions). We believe that our simple methods for the fabrication of graphene/Ag hybrid fiber electrodes for use in fiber-type transistors can potentially be applied to the development all-organic wearable devices. PMID:26549711

  8. Highly Conductive Graphene/Ag Hybrid Fibers for Flexible Fiber-Type Transistors

    PubMed Central

    Yoon, Sang Su; Lee, Kang Eun; Cha, Hwa-Jin; Seong, Dong Gi; Um, Moon-Kwang; Byun, Joon-Hyung; Oh, Youngseok; Oh, Joon Hak; Lee, Wonoh; Lee, Jea Uk

    2015-01-01

    Mechanically robust, flexible, and electrically conductive textiles are highly suitable for use in wearable electronic applications. In this study, highly conductive and flexible graphene/Ag hybrid fibers were prepared and used as electrodes for planar and fiber-type transistors. The graphene/Ag hybrid fibers were fabricated by the wet-spinning/drawing of giant graphene oxide and subsequent functionalization with Ag nanoparticles. The graphene/Ag hybrid fibers exhibited record-high electrical conductivity of up to 15,800 S cm−1. As the graphene/Ag hybrid fibers can be easily cut and placed onto flexible substrates by simply gluing or stitching, ion gel-gated planar transistors were fabricated by using the hybrid fibers as source, drain, and gate electrodes. Finally, fiber-type transistors were constructed by embedding the graphene/Ag hybrid fiber electrodes onto conventional polyurethane monofilaments, which exhibited excellent flexibility (highly bendable and rollable properties), high electrical performance (μh = 15.6 cm2 V−1 s−1, Ion/Ioff > 104), and outstanding device performance stability (stable after 1,000 cycles of bending tests and being exposed for 30 days to ambient conditions). We believe that our simple methods for the fabrication of graphene/Ag hybrid fiber electrodes for use in fiber-type transistors can potentially be applied to the development all-organic wearable devices. PMID:26549711

  9. Pyopneumothorax with Stocker type III congenital cystic adenomatoid malformation in a 5-month-old infant

    PubMed Central

    Chilkar, Sujeet M; Leelakumar, Venkat; Ranjani, Chakravarthy P; Musthyala, Bharati; Narayana, Kotte VS

    2016-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare, developmental, hamartomatous abnormality of the lung characterized by a cessation of normal bronchiolar maturation, resulting in cystic overgrowth of the terminal bronchioles. We report one such case of CCAM in a 5-month-old female infant who was in perfect health until she suffered from spontaneous pyopneumothorax with type III CCAM of the lung and recovered after lobectomy. PMID:27051113

  10. Myosin isoform fiber type and fiber size in the tail of the Virginia opossum (Didelphis virginiana).

    PubMed

    Hazimihalis, P J; Gorvet, M A; Butcher, M T

    2013-01-01

    Muscle fiber type is a well studied property in limb muscles, however, much less is understood about myosin heavy chain (MHC) isoform expression in caudal muscles of mammalian tails. Didelphid marsupials are an interesting lineage in this context as all species have prehensile tails, but show a range of tail-function depending on either their arboreal or terrestrial locomotor habits. Differences in prehensility suggest that MHC isoform fiber types may also be different, in that terrestrial opossums may have a large distribution of oxidative fibers for object carrying tasks instead of faster, glycolytic fiber types expected in mammals with long tails. To test this hypothesis, MHC isoform fiber type and their regional distribution (proximal/transitional/distal) were determined in the tail of the Virginia opossum (Didelphis virginiana). Fiber types were determined by a combination of myosin-ATPase histochemistry, immunohistochemistry, and SDS-PAGE. Results indicate a predominance of the fast MHC-2A and -2X isoforms in each region of the tail. The presence of two fast isoforms, in addition to the slow MHC-1 isoform, was confirmed by SDS-PAGE analysis. The overall MHC isoform fiber type distribution for the tail was: 25% MHC-1, 71% MHC-2A/X hybrid, and 4% MHC-1/2A hybrid. Oxidative MHC-2A/X isoform fibers were found to be relatively large in cross-section compared to slow, oxidative MHC-1 and MHC-1/2A hybrid fibers. A large percentage of fast MHC-2A/X hybrids fibers may be suggestive of an evolutionary transition in MHC isoform distribution (fast-to-slow fiber type) in the tail musculature of an opossum with primarily a terrestrial locomotor habit and adaptive tail-function.

  11. Micromechanical behavior of single-fiber type and hybrid microcomposites

    SciTech Connect

    Qiu Yiping.

    1992-01-01

    Single-fiber type and hybrid microcomposites were fabricated using Kevlar {reg sign} 149 as the low elongation (LE) fiber and S-glass fibers as the high elongation fiber using a DER 331/DER 732 epoxy mixture (70/30, w/w). In tensile tests, it was found that Kevlar{reg sign} 149 fiber was significantly stronger in the microcomposite than as a single filament. For the hybrid microcomposite, Kevlar{reg sign} 149 fibers usually broke one by one. A positive hybrid effect for the failure strain but a negative hybrid effect for the strength of the hybrid were observed. The tensile modulus of the hybrid microcomposite followed the rule of mixtures well. The fiber/matrix interface properties were investigated using the single-fiber pull-out from a microcomposite (SFPOM) test and the microbond test. SFPOM test reflected the feeling of the fibers in a real composite, showing the decrease of interfacial shear strength (IFSS) with fiber volume fraction increase. To predict the stress-rupture lifetime of a hybrid composite, a stochastic model was proposed assuming that the failure of LE fibers in a hybrid follows a continuous time Markov chain.

  12. Composition of Muscle Fiber Types in Rat Rotator Cuff Muscles.

    PubMed

    Rui, Yongjun; Pan, Feng; Mi, Jingyi

    2016-10-01

    The rat is a suitable model to study human rotator cuff pathology owing to the similarities in morphological anatomy structure. However, few studies have reported the composition muscle fiber types of rotator cuff muscles in the rat. In this study, the myosin heavy chain (MyHC) isoforms were stained by immunofluorescence to show the muscle fiber types composition and distribution in rotator cuff muscles of the rat. It was found that rotator cuff muscles in the rat were of mixed fiber type composition. The majority of rotator cuff fibers labeled positively for MyHCII. Moreover, the rat rotator cuff muscles contained hybrid fibers. So, compared with human rotator cuff muscles composed partly of slow-twitch fibers, the majority of fast-twitch fibers in rat rotator cuff muscles should be considered when the rat model study focus on the pathological process of rotator cuff muscles after injury. Gaining greater insight into muscle fiber types in rotator cuff muscles of the rat may contribute to elucidate the mechanism of pathological change in rotator cuff muscles-related diseases. Anat Rec, 299:1397-1401, 2016. © 2016 Wiley Periodicals, Inc.

  13. Type F Congenital Quadricuspid Aortic Valve: A Very Rare Case Diagnosed by 3-dimenional Transoesophageal Echocardiography

    PubMed Central

    Garg, Pankaj; Kamaruddin, Hazlyna; Orme, Rachel; Watt, Victoria

    2014-01-01

    Congenital quadricuspid aortic valve (QAV) is a rare cardiac anomaly. Several different anatomical variations of a quadricuspid aortic valve have been described. Aortic regurgitation is the predominant valvular dysfunction associated with QAV and patients tend to present in their 5th or 6th decade of life. This anomaly is rarely picked up by transthoracic echocardiogram (TTE). A comprehensive transoesophageal echocardiography (TOE) study is more likely to diagnose it. We describe a very rare type of QAV – Type F in a 52-year-old lady who presented with symptoms of shortness of breath and pre-syncope. We include TOE images and intra-operative valve images. PMID:24707324

  14. A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation

    PubMed Central

    Mitani, Marie; Furuichi, Munehiro; Narumi, Satoshi; Hasegawa, Tomonobu; Chiga, Motoko; Uchida, Shinichi; Sato, Seiji

    2016-01-01

    Abstract. Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypopituitarism. The patient, a 3-yr-old boy, experienced loss of consciousness at age 10 mo. He exhibited growth failure, hypertension, hyperkalemia, and metabolic acidosis. We diagnosed him as having PHA II because he had low plasma renin activity with normal plasma aldosterone level and a low transtubular potassium gradient. Further investigations revealed defective secretion of GH and gonadotropins and anterior pituitary gland hypoplasia. Genetic analyses revealed a previously known heterozygous KLHL3 mutation (p.Leu387Pro), but no mutation was detected in 27 genes associated with congenital hypopituitarism. He was treated with sodium restriction and recombinant human GH, which normalized growth velocity. This is the first report of a molecularly confirmed patient with PHA II complicated by congenital hypopituitarism. We speculate that both GH deficiency and metabolic acidosis contributed to growth failure. Endocrinological investigations will help to individualize the treatment of patients with PHA II presenting with growth failure. PMID:27780982

  15. Masticatory biomechanics and masseter fiber-type plasticity.

    PubMed

    Ravosa, M J; Ning, J; Costley, D B; Daniel, A N; Stock, S R; Stack, M S

    2010-03-01

    Compared to force-resisting elements of the mammalian feeding apparatus, data on jaw-muscle plasticity are less common. This hinders our understanding of the role of force-producing structures in craniofacial development and integration. Thus, we investigated fiber-type abundance and cross-sectional area in the masseter muscle of growing rabbits subjected to diet-induced variation in masticatory stresses. Three loading cohorts were obtained as weanlings and raised until adult on different diets. Immediately following euthanasia, left-sided masseters were dissected away, weighed, and then divided into anterior, intermediate and posterior sections for fiber-type immunohistochemistry. These data were compared to mandibular proportions and biomineralization from the same subjects. Results indicate that growing mammals fed a tougher, fracture-resistant diet develop: absolutely and relatively lower numbers of Type I jaw-muscle fibers; absolutely larger fiber cross-sectional areas; and relative increases in the amount of Type II fibers. These analyses indicate that an early postweaning dietary shift can induce significant variation in muscle fiber types. Such norms of reaction are comparable to those observed in bony elements. Functionally, the processing of fracture-resistant foods results in jaw adductors potentially characterized by faster contraction times and higher force production capabilities, which may influence the frequency and amplitude of forces experienced by oral tissues.

  16. Congenital Methemoglobinemia Type II-Clinical Improvement with Short-Term Methylene Blue Treatment.

    PubMed

    Cooper, Monica S; Randall, Melinda; Rowell, Margaret; Charlton, Margaret; Greenway, Anthea; Barnes, Chris

    2016-03-01

    We report a case of prophylactic management with methylene blue (MB) in an almost 4-year-old male with congenital methemoglobinemia type II. He has a CYB5R3 compound heterozygote mutation, causing a cytochrome-b(5) reductase deficiency. Since the MB treatment regimen has commenced, his methemoglobin level has been significantly lower. He has shown modest behavioral improvements (as assessed on the Achenbach behavior report scales). There have been no iatrogenic side effects. These findings are encouraging for symptomatic improvement with regular prophylactic MB treatment but represent a single case report, which must be interpreted with caution.

  17. [Physical and occupational work capacity of surgical patients with pale-type congenital heart defects].

    PubMed

    Gritsenko, V V; Likhnitskaia, I I; Efanova, S A; Gavrilenkov, V I; Mochalov, O Iu

    1984-10-01

    A comparative assessment of energy losses and functional shifts in the system of circulation and respiration in various types of the professional activity in 22 patients 14,7 +/- 1,38 years after successful radical operations for the open arterial duct, defects of interatrial and interventricular septa, 64 healthy people and 12 nonoperated patients with similar congenital heart diseases was made. The patients subjected to timely radical operations were shown to possess working capacity and ability. They can fulfill a professional work with light and average strain under systematic control. PMID:6516151

  18. Congenital Methemoglobinemia Type II-Clinical Improvement with Short-Term Methylene Blue Treatment.

    PubMed

    Cooper, Monica S; Randall, Melinda; Rowell, Margaret; Charlton, Margaret; Greenway, Anthea; Barnes, Chris

    2016-03-01

    We report a case of prophylactic management with methylene blue (MB) in an almost 4-year-old male with congenital methemoglobinemia type II. He has a CYB5R3 compound heterozygote mutation, causing a cytochrome-b(5) reductase deficiency. Since the MB treatment regimen has commenced, his methemoglobin level has been significantly lower. He has shown modest behavioral improvements (as assessed on the Achenbach behavior report scales). There have been no iatrogenic side effects. These findings are encouraging for symptomatic improvement with regular prophylactic MB treatment but represent a single case report, which must be interpreted with caution. PMID:26574897

  19. NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.

    PubMed

    Percy, M J; Aslan, D

    2008-10-01

    The development of cyanosis at birth, the so-called blue baby syndrome, alerts paediatricians to the presence of congenital heart disease. In rare cases where the arterial blood gas analysis is normal the cyanosis is a consequence of methaemoglobinaemia. There are three distinct origins of methaemoglobinaemia; the presence of a haemoglobin variant, environmental toxicity and deficiency of cytochrome b5 reductase (cb(5)r). Two children born to two sets of first-degree related parents were cyanotic from birth. Differential diagnosis eliminated cardiac and pulmonary abnormalities. Measurement of methaemoglobin levels confirmed recessive congenital methaemoglobinaemia (RCM) and treatment with ascorbic acid was commenced. In the absence of neurological defects, type I disease was diagnosed. Sequence analysis of CYB5R3 revealed two different missense mutations (one which is novel, Ile85Ser) in the two families. Neither of the mutations was located in the FAD or the NADH binding sites of cb(5)r, thus supporting a diagnosis of type I disease. PMID:18820099

  20. CYTOLOGICAL STUDIES OF FIBER TYPES IN SKELETAL MUSCLE

    PubMed Central

    Gauthier, Geraldine F.; Padykula, Helen A.

    1966-01-01

    A comparative investigation of the mammalian diaphragm has revealed a correlation between certain cytological aspects of red and white muscle fibers and functional activity. This skeletal muscle presents the advantage of a similar and constant function among the mammals, but its functional activity varies in a quantitative manner. Both the rate of breathing (and hence the rate of contraction of the diaphragm) and metabolic activity are known to be inversely related to body size; and this study has demonstrated a relationship between cytological characteristics of the diaphragm and body size of the animal. Small fibers rich in mitochondria (red fibers) are characteristic of small mammals, which have high metabolic activity and fast breathing rates; and large fibers with relatively low mitochondrial content predominate in large mammals, which have lower metabolic activity and slower breathing rates. In mammals with body size intermediate between these two groups (including the laboratory rat), the diaphragm consists of varying mixtures of fiber types. In general, the mitochondrial content of diaphragm fibers is inversely related to body size. It appears, then, that the red fiber reflects a high degree of metabolic activity or a relatively high rate of contraction within the range exhibited by this muscle. PMID:5950272

  1. Muscle fiber types composition and type identified endplate morphology of forepaw intrinsic muscles in the rat.

    PubMed

    Pan, Feng; Mi, Jing-Yi; Zhang, Yan; Pan, Xiao-Yun; Rui, Yong-Jun

    2016-06-01

    The failure to accept reinnervation is considered to be one of the reasons for the poor motor functional recovery of intrinsic hand muscles (IHMs) after nerve injury. Rat could be a suitable model to be used in simulating motor function recovery of the IHMs after nerve injury as to the similarities in function and anatomy of the muscles between human and rat. However, few studies have reported the muscle fiber types composition and endplate morphologic characteristics of intrinsic forepaw muscles (IFMs) in the rat. In this study, the myosin heavy chain isoforms and acetylcholine receptors were stained by immunofluorescence to show the muscle fiber types composition and endplates on type-identified fibers of the lumbrical muscles (LMs), interosseus muscles (IMs), abductor digiti minimi (AM) and flexor pollicis brevis (FM) in rat forepaw. The majority of IFMs fibers were labeled positively for fast-switch fiber. However, the IMs were composed of only slow-switch fiber. With the exception of the IMs, the other IFMs had a part of hybrid fibers. Two-dimensional morphological characteristics of endplates on I and IIa muscle fiber had no significant differences among the IFMs. The LMs is the most suitable IFMs of rat to stimulate reinnervation of the IHMs after nerve injury. Gaining greater insight into the muscle fiber types composition and endplate morphology in the IFMs of rat may help understand the pathological and functional changes of IFMs in rat model stimulating reinnervation of IHMs after peripheral nerve injury.

  2. Protein diffusion in living skeletal muscle fibers: dependence on protein size, fiber type, and contraction.

    PubMed Central

    Papadopoulos, S; Jürgens, K D; Gros, G

    2000-01-01

    Sarcoplasmic protein diffusion was studied under different conditions, using microinjection in combination with microspectrophotometry. Six globular proteins with molecular masses between 12 and 3700 kDa, with diameters from 3 to 30 nm, were used for the experiments. Proteins were injected into single, intact skeletal muscle fibers taken from either soleus or extensor digitorum longus (edl) muscle of adult rats. No correlation was found between sarcomere spacing and the sarcoplasmic diffusion coefficient (D) for all proteins studied. D of the smaller proteins cytochrome c (diameter 3.1 nm), myoglobin (diameter 3.5 nm), and hemoglobin (diameter 5.5 nm) amounted to only approximately 1/10 of their value in water and was not increased by auxotonic fiber contractions. D for cytochrome c and myoglobin was significantly higher in fibers from edl (mainly type II fibers) compared to fibers from soleus (mainly type I fibers). Measurements of D for myoglobin at 37 degrees C in addition to 22 degrees C led to a Q(10) of 1.46 for this temperature range. For the larger proteins catalase (diameter 10.5 nm) and ferritin (diameter 12.2 nm), a decrease in D to approximately 1/20 and approximately 1/50 of that in water was observed, whereas no diffusive flux at all of earthworm hemoglobin (diameter 30 nm) along the fiber axis could be detected. We conclude that 1) sarcoplasmic protein diffusion is strongly impaired by the presence of the myofilamental lattice, which also gives rise to differences in diffusivity between different fiber types; 2) contractions do not cause significant convection in sarcoplasm and do not lead to increased diffusional transport; and 3) in addition to the steric hindrance that slows down the diffusion of smaller proteins, diffusion of large proteins is further hindered when their dimensions approach the interfilament distances. This molecular sieve property progressively reduces intracellular diffusion of proteins when the molecular diameter increases to

  3. Congenital dyserthropoietic anaemia other than type I to III with a peculiar erythroblastic morphology.

    PubMed

    Woessner, S; Trujillo, M; Florensa, L; Mesa, M C; Wickramasinghe, S N

    2003-09-01

    Here, we report the case of a child who, since birth, showed persistent macrocytosis and elevated mean corpuscular volume of the erythrocytes. Bone marrow biopsy revealed gross disorganisation of the erythroblastic series both at the light and electron microscopic examination, with complete absence of dysplastic features in the granulocytic and megakaryocytic series. Common causes of macrocytosis were excluded. The spectrum of morphological findings were not consistent with any of the classical types of congenital dyserythropoietic anaemias (CDAs) and serological findings of CDA type II were absent. The most outstanding feature was a marked irregularity of the nuclear outline of the late erythroblasts that presented thick-ending finger-like projections. The combination of macrocytosis without anaemia and these morphologic erythroblastic changes have not been previously reported in the setting of classical and variant forms of CDAs. PMID:12930323

  4. Color vision abnormality as an initial presentation of the complete type of congenital stationary night blindness.

    PubMed

    Tan, Xue; Aoki, Aya; Yanagi, Yasuo

    2013-01-01

    Patients with the complete form of congenital stationary night blindness (CSNB) often have reduced visual acuity, myopia, impaired night vision, and sometimes nystagmus and strabismus, however, they seldom complain of color vision abnormality. A 17-year-old male who was at technical school showed abnormalities in the color perception test for employment, and was referred to our hospital for a detailed examination. He had no family history of color vision deficiency and no other symptoms. During the initial examination, his best-corrected visual acuity was 1.2 in both eyes. His fundus showed no abnormalities except for somewhat yellowish reflex in the fovea of both eyes. Electroretinogram (ERG) showed a good response in cone ERG and 30 Hz flicker ERG, however, the bright flash, mixed rod and cone ERG showed a negative type with a reduced b-wave (positive deflection). There was no response in the rod ERG, either. From the findings of the typical ERG, the patient was diagnosed with complete congenital stationary night blindness. This case underscores the importance of ERG in order to diagnose the cause of a color vision anomaly.

  5. Congenital toxoplasmosis from a mother with type 2 diabetes mellitus: a case report.

    PubMed

    Sato, Shimpei; Nishida, Masakazu; Nasu, Kaei; Narahara, Hisashi; Norose, Kazumi; Aosai, Fumie

    2014-11-01

    A 33-year-old woman with type 2 diabetes mellitus (DM) was suspected of being primarily infected with Toxoplasma gondii at 12 weeks of gestation (GW). Although acetylspiramycin was started at 17 GW, the T. gondii DNA gene was detected in the amniotic fluid at 18 GW. Chemotherapy was changed to pyrimethamine plus sulfadiazine from 20 GW, but was changed back to acetylspiramycin after 2 weeks because of vomiting. Acetylspiramycin was continued until her delivery. DM was controlled well during the pregnancy. An asymptomatic male baby was born by cesarean section at 37 GW, and was treated with acetylspiramycin for 4 weeks because the polymerase chain reaction results of umbilical cord blood were positive. He has developed normally until the present, that is, 6 months of age. Herein, we describe a case report in which symptomatic congenital toxoplasmosis was avoided in a pregnant woman with an immunosuppressive risk due to prompt chemotherapy.

  6. Fiber type effects on contraction-stimulated glucose uptake and GLUT4 abundance in single fibers from rat skeletal muscle

    PubMed Central

    Castorena, Carlos M.; Arias, Edward B.; Sharma, Naveen; Bogan, Jonathan S.

    2014-01-01

    To fully understand skeletal muscle at the cellular level, it is essential to evaluate single muscle fibers. Accordingly, the major goals of this study were to determine if there are fiber type-related differences in single fibers from rat skeletal muscle for: 1) contraction-stimulated glucose uptake and/or 2) the abundance of GLUT4 and other metabolically relevant proteins. Paired epitrochlearis muscles isolated from Wistar rats were either electrically stimulated to contract (E-Stim) or remained resting (No E-Stim). Single fibers isolated from muscles incubated with 2-deoxy-d-[3H]glucose (2-DG) were used to determine fiber type [myosin heavy chain (MHC) isoform protein expression], 2-DG uptake, and abundance of metabolically relevant proteins, including the GLUT4 glucose transporter. E-Stim, relative to No E-Stim, fibers had greater (P < 0.05) 2-DG uptake for each of the isolated fiber types (MHC-IIa, MHC-IIax, MHC-IIx, MHC-IIxb, and MHC-IIb). However, 2-DG uptake for E-Stim fibers was not significantly different among these five fiber types. GLUT4, tethering protein containing a UBX domain for GLUT4 (TUG), cytochrome c oxidase IV (COX IV), and filamin C protein levels were significantly greater (P < 0.05) in MHC-IIa vs. MHC-IIx, MHC-IIxb, or MHC-IIb fibers. TUG and COX IV in either MHC-IIax or MHC-IIx fibers exceeded values for MHC-IIxb or MHC-IIb fibers. GLUT4 levels for MHC-IIax fibers exceeded MHC-IIxb fibers. GLUT4, COX IV, filamin C, and TUG abundance in single fibers was significantly (P < 0.05) correlated with each other. Differences in GLUT4 abundance among the fiber types were not accompanied by significant differences in contraction-stimulated glucose uptake. PMID:25491725

  7. Mapping of the locus for congenital nephrotic syndrome of the Finnish type (CNF) on chromosome 19

    SciTech Connect

    Kestilae, M.; Maennikkoe, M.; Tryggvason, K.

    1994-09-01

    Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disease which forms a distinct entity among congenital nephrotic syndromes. It is characterized by massive proteinuria starting already in utero, large placenta and manifestation of nephrosis soon after birth. The incidence in Finland is about 1 in 8000 newborns, and the disease has been reported occasionally in other countries, particularly in Minnesota, USA. The gene defect in CNF is unknown, but the gene product is likely to be important for kidney development of glomerular filtration. We have used a random mapping approach in 17 Finnish CNF families resulting in the localization of the gene to chromosome 19q12-q13.1. Based on observed recombination events, the CNF locus is flanked by markers D19S191 and D19S224 corresponding to a region under 1 Mb in physical length. Cosmid contigs have been isolated from this region and at least two new polymorphic CA-repeat markers (MKMM1, MKMM2) have been identified from those clones. Statistically highly significant linkage disequilibrium can be observed with markers MKMM1, D19S224 and D19S220, the allelic association being about 65%. The most common haplotype, which was combined from these markers, is found in 60% of chromosomes carrying the CNF mutation. This work has enabled DNA-based diagnosis of CNF, and recently linkage and linkage disequilibrium analyses were used in prenatal diagnostics in a family with one affected child and two healthy siblings. DNA isolated from chorion villus biopsy was analyzed using markers D19S191, MKMM1, D19S224 and D19S220, and the fetus was shown to have the same genotype as the affected child.

  8. Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1

    PubMed Central

    Dgany, Orly; Avidan, Nili; Delaunay, Jean; Krasnov, Tatyana; Shalmon, Lea; Shalev, Hanna; Eidelitz-Markus, Tal; Kapelushnik, Joseph; Cattan, Daniel; Pariente, Alexandre; Tulliez, Michel; Crétien, Aurore; Schischmanoff, Pierre-Olivier; Iolascon, Achille; Fibach, Eithan; Koren, Ariel; Rössler, Jochen; Le Merrer, Martine; Yaniv, Isaac; Zaizov, Rina; Ben-Asher, Edna; Olender, Tsvyia; Lancet, Doron; Beckmann, Jacques S.; Tamary, Hannah

    2002-01-01

    Congenital dyserythropoietic anemias (CDAs) constitute a rare group of inherited red-blood-cell disorders associated with dysplastic changes in late erythroid precursors. CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus. A cluster of 45 highly inbred Israeli Bedouin with CDAI enabled the mapping of the CDAN1 disease gene to a 2-Mb interval, now refined to 1.2 Mb, containing 15 candidate genes on human chromosome 15q15 (Tamary et al. 1998). After the characterization and exclusion of 13 of these genes, we identified the CDAN1 gene through 12 different mutations in 9 families with CDAI. This 28-exon gene, which is transcribed ubiquitously into 4738 nt mRNA, was reconstructed on the basis of gene prediction and homology searches. It encodes codanin-1, a putative o-glycosylated protein of 1,226 amino acids, with no obvious transmembrane domains. Codanin-1 has a 150-residue amino-terminal domain with sequence similarity to collagens and two shorter segments that show weak similarities to the microtubule-associated proteins, MAP1B (neuraxin) and synapsin. These findings, and the cellular phenotype, suggest that codanin-1 may be involved in nuclear envelope integrity, conceivably related to microtubule attachments. The specific mechanisms by which codanin-1 underlies normal erythropoiesis remain to be elucidated. PMID:12434312

  9. Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy.

    PubMed

    Kondo-Iida, E; Saito, K; Tanaka, H; Tsuji, S; Ishihara, T; Osawa, M; Fukuyama, Y; Toda, T

    1997-04-01

    Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive severe muscular dystrophy associated with brain malformation. The gene responsible for FCMD was mapped to chromosome 9q31, a region in which convincing evidence of strong linkage disequilibrium between FCMD and mfd220 (D9S306) was recently found. FCMD is also characterized clinically by a peak motor function which, at best, allows patients to sit unassisted or slide on the buttocks. However, a small fraction of patients acquire the capacity to walk unassisted. Whether such ambulant cases belong to the FCMD spectrum or to a different disease entity has been a topic of considerable debate. We performed linkage analysis for ten families with ambulant cases using DNA markers flanking the FCMD locus. The mfd220 locus yielded a significant lod score of 3.09 for ambulant FCMD. We also found evidence for linkage disequilibrium between ambulant FCMD and mfd220. We further conducted haplotype analysis in FCMD siblings with different phenotypes, one of whom was ambulant while the other was not. The results indicate that the FCMD siblings share exactly the same haplotype at nine marker loci spanning 23.3 cM surrounding the FCMD locus. On the basis of these results, we conclude that, genetically, ambulant cases are, in fact, part of the FCMD spectrum.

  10. Measurement of Elastic Modulus of Collagen Type I Single Fiber.

    PubMed

    Dutov, Pavel; Antipova, Olga; Varma, Sameer; Orgel, Joseph P R O; Schieber, Jay D

    2016-01-01

    Collagen fibers are the main components of the extra cellular matrix and the primary contributors to the mechanical properties of tissues. Here we report a novel approach to measure the longitudinal component of the elastic moduli of biological fibers under conditions close to those found in vivo and apply it to type I collagen from rat tail tendon. This approach combines optical tweezers, atomic force microscopy, and exploits Euler-Bernoulli elasticity theory for data analysis. This approach also avoids drying for measurements or visualization, since samples are freshly extracted. Importantly, strains are kept below 0.5%, which appear consistent with the linear elastic regime. We find, surprisingly, that the longitudinal elastic modulus of type I collagen cannot be represented by a single quantity but rather is a distribution that is broader than the uncertainty of our experimental technique. The longitudinal component of the single-fiber elastic modulus is between 100 MPa and 360 MPa for samples extracted from different rats and/or different parts of a single tail. Variations are also observed in the fibril-bundle/fibril diameter with an average of 325±40 nm. Since bending forces depend on the diameter to the fourth power, this variation in diameter is important for estimating the range of elastic moduli. The remaining variations in the modulus may be due to differences in composition of the fibril-bundles, or the extent of the proteoglycans constituting fibril-bundles, or that some single fibrils may be of fibril-bundle size.

  11. Mechanical properties and fiber type composition of chronically inactive muscles

    NASA Technical Reports Server (NTRS)

    Roy, R. R.; Zhong, H.; Monti, R. J.; Vallance, K. A.; Kim, J. A.; Edgerton, V. R.

    2000-01-01

    A role for neuromuscular activity in the maintenance of skeletal muscle properties has been well established. However, the role of activity-independent factors is more difficult to evaluate. We have used the spinal cord isolation model to study the effects of chronic inactivity on the mechanical properties of the hindlimb musculature in cats and rats. This model maintains the connectivity between the motoneurons and the muscle fibers they innervate, but the muscle unit is electrically "silent". Consequently, the measured muscle properties are activity-independent and thus the advantage of using this model is that it provides a baseline level (zero activity) from which regulatory factors that affect muscle cell homeostasis can be defined. In the present paper, we will present a brief review of our findings using the spinal cord isolation model related to muscle mechanical and fiber type properties.

  12. Niacin supplementation induces type II to type I muscle fiber transition in skeletal muscle of sheep

    PubMed Central

    2013-01-01

    Background It was recently shown that niacin supplementation counteracts the obesity-induced muscle fiber transition from oxidative type I to glycolytic type II and increases the number of type I fibers in skeletal muscle of obese Zucker rats. These effects were likely mediated by the induction of key regulators of fiber transition, PPARδ (encoded by PPARD), PGC-1α (encoded by PPARGC1A) and PGC-1β (encoded by PPARGC1B), leading to type II to type I fiber transition and upregulation of genes involved in oxidative metabolism. The aim of the present study was to investigate whether niacin administration also influences fiber distribution and the metabolic phenotype of different muscles [M. longissimus dorsi (LD), M. semimembranosus (SM), M. semitendinosus (ST)] in sheep as a model for ruminants. For this purpose, 16 male, 11 wk old Rhoen sheep were randomly allocated to two groups of 8 sheep each administered either no (control group) or 1 g niacin per day (niacin group) for 4 wk. Results After 4 wk, the percentage number of type I fibers in LD, SM and ST muscles was greater in the niacin group, whereas the percentage number of type II fibers was less in niacin group than in the control group (P < 0.05). The mRNA levels of PPARGC1A, PPARGC1B, and PPARD and the relative mRNA levels of genes involved in mitochondrial fatty acid uptake (CPT1B, SLC25A20), tricarboxylic acid cycle (SDHA), mitochondrial respiratory chain (COX5A, COX6A1), and angiogenesis (VEGFA) in LD, SM and ST muscles were greater (P < 0.05) or tended to be greater (P < 0.15) in the niacin group than in the control group. Conclusions The study shows that niacin supplementation induces muscle fiber transition from type II to type I, and thereby an oxidative metabolic phenotype of skeletal muscle in sheep as a model for ruminants. The enhanced capacity of skeletal muscle to utilize fatty acids in ruminants might be particularly useful during metabolic states in which fatty acids are

  13. Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2☆

    PubMed Central

    Burtscher, Verena; Schicker, Klaus; Novikova, Elena; Pöhn, Birgit; Stockner, Thomas; Kugler, Christof; Singh, Anamika; Zeitz, Christina; Lancelot, Marie-Elise; Audo, Isabelle; Leroy, Bart Peter; Freissmuth, Michael; Herzig, Stefan; Matthes, Jan; Koschak, Alexandra

    2014-01-01

    Defective retinal synaptic transmission in patients affected with congenital stationary night blindness type 2 (CSNB2) can result from different dysfunction phenotypes in Cav1.4 L-type calcium channels. Here we investigated two prototypical Cav1.4 variants from either end of the functional spectrum. Using whole-cell and single-channel patch-clamp techniques, we provide analysis of the biophysical characteristics of the point mutation L860P and the C-terminal truncating mutation R1827X. L860P showed a typical loss-of-function phenotype attributed to a reduced number of functional channels expressed at the plasma membrane as implied by gating current and non-stationary noise analyses. This phenotype can be rationalized, because the inserted proline is predicted to break an amphipatic helix close to the transmembrane segment IIIS1 and thus to reduce channel stability and promote misfolding. In fact, L860P was subject to an increased turnover. In contrast, R1827X displayed an apparent gain-of-function phenotype, i.e., due to a hyperpolarizing shift of the IV-curve and increased single-channel activity. However, truncation also resulted in the loss of functional C-terminal modulation and thus unmasked calcium-dependent inactivation. Thus R1827X failed to support continuous calcium influx. Current inactivation curtails the dynamic range of photoreceptors (e.g., when adapting to variation in illumination). Taken together, the analysis of two representative mutations that occur in CSNB2 patients revealed fundamental differences in the underlying defect. These may explain subtle variations in the clinical manifestation and must be taken into account, if channel function is to be restored by pharmacochaperones or related approaches. PMID:24796500

  14. Ontogenetic changes in skeletal muscle fiber type, fiber diameter and myoglobin concentration in the Northern elephant seal (Mirounga angustirostris).

    PubMed

    Moore, Colby D; Crocker, Daniel E; Fahlman, Andreas; Moore, Michael J; Willoughby, Darryn S; Robbins, Kathleen A; Kanatous, Shane B; Trumble, Stephen J

    2014-01-01

    Northern elephant seals (Mirounga angustirostris) (NES) are known to be deep, long-duration divers and to sustain long-repeated patterns of breath-hold, or apnea. Some phocid dives remain within the bounds of aerobic metabolism, accompanied by physiological responses inducing lung compression, bradycardia, and peripheral vasoconstriction. Current data suggest an absence of type IIb fibers in pinniped locomotory musculature. To date, no fiber type data exist for NES, a consummate deep diver. In this study, NES were biopsied in the wild. Ontogenetic changes in skeletal muscle were revealed through succinate dehydrogenase (SDH) based fiber typing. Results indicated a predominance of uniformly shaped, large type I fibers and elevated myoglobin (Mb) concentrations in the longissimus dorsi (LD) muscle of adults. No type II muscle fibers were detected in any adult sampled. This was in contrast to the juvenile animals that demonstrated type II myosin in Western Blot analysis, indicative of an ontogenetic change in skeletal muscle with maturation. These data support previous hypotheses that the absence of type II fibers indicates reliance on aerobic metabolism during dives, as well as a depressed metabolic rate and low energy locomotion. We also suggest that the lack of type IIb fibers (adults) may provide a protection against ischemia reperfusion (IR) injury in vasoconstricted peripheral skeletal muscle.

  15. Ontogenetic changes in skeletal muscle fiber type, fiber diameter and myoglobin concentration in the Northern elephant seal (Mirounga angustirostris)

    PubMed Central

    Moore, Colby D.; Crocker, Daniel E.; Fahlman, Andreas; Moore, Michael J.; Willoughby, Darryn S.; Robbins, Kathleen A.; Kanatous, Shane B.; Trumble, Stephen J.

    2014-01-01

    Northern elephant seals (Mirounga angustirostris) (NES) are known to be deep, long-duration divers and to sustain long-repeated patterns of breath-hold, or apnea. Some phocid dives remain within the bounds of aerobic metabolism, accompanied by physiological responses inducing lung compression, bradycardia, and peripheral vasoconstriction. Current data suggest an absence of type IIb fibers in pinniped locomotory musculature. To date, no fiber type data exist for NES, a consummate deep diver. In this study, NES were biopsied in the wild. Ontogenetic changes in skeletal muscle were revealed through succinate dehydrogenase (SDH) based fiber typing. Results indicated a predominance of uniformly shaped, large type I fibers and elevated myoglobin (Mb) concentrations in the longissimus dorsi (LD) muscle of adults. No type II muscle fibers were detected in any adult sampled. This was in contrast to the juvenile animals that demonstrated type II myosin in Western Blot analysis, indicative of an ontogenetic change in skeletal muscle with maturation. These data support previous hypotheses that the absence of type II fibers indicates reliance on aerobic metabolism during dives, as well as a depressed metabolic rate and low energy locomotion. We also suggest that the lack of type IIb fibers (adults) may provide a protection against ischemia reperfusion (IR) injury in vasoconstricted peripheral skeletal muscle. PMID:24959151

  16. Ontogenetic changes in skeletal muscle fiber type, fiber diameter and myoglobin concentration in the Northern elephant seal (Mirounga angustirostris).

    PubMed

    Moore, Colby D; Crocker, Daniel E; Fahlman, Andreas; Moore, Michael J; Willoughby, Darryn S; Robbins, Kathleen A; Kanatous, Shane B; Trumble, Stephen J

    2014-01-01

    Northern elephant seals (Mirounga angustirostris) (NES) are known to be deep, long-duration divers and to sustain long-repeated patterns of breath-hold, or apnea. Some phocid dives remain within the bounds of aerobic metabolism, accompanied by physiological responses inducing lung compression, bradycardia, and peripheral vasoconstriction. Current data suggest an absence of type IIb fibers in pinniped locomotory musculature. To date, no fiber type data exist for NES, a consummate deep diver. In this study, NES were biopsied in the wild. Ontogenetic changes in skeletal muscle were revealed through succinate dehydrogenase (SDH) based fiber typing. Results indicated a predominance of uniformly shaped, large type I fibers and elevated myoglobin (Mb) concentrations in the longissimus dorsi (LD) muscle of adults. No type II muscle fibers were detected in any adult sampled. This was in contrast to the juvenile animals that demonstrated type II myosin in Western Blot analysis, indicative of an ontogenetic change in skeletal muscle with maturation. These data support previous hypotheses that the absence of type II fibers indicates reliance on aerobic metabolism during dives, as well as a depressed metabolic rate and low energy locomotion. We also suggest that the lack of type IIb fibers (adults) may provide a protection against ischemia reperfusion (IR) injury in vasoconstricted peripheral skeletal muscle. PMID:24959151

  17. Structure of motor endplates in the different fiber types of vertebrate skeletal muscles.

    PubMed

    Ogata, T

    1988-12-01

    The number and localization of vertebrate motor endplates on the muscle fiber, and their structure, vary according to phylum and species, and among the different fiber types in a given species. Vertebrate skeletal muscle fibers are classified into two major groups: the twitch (fast) and the slow (tonic) fibers. The twitch fiber has straight Z-lines and a well developed T-SR system, and is singly innervated with en plaque (plate-like) type motor endplate. The twitch fibers are further subdivided into three types: the red (mitochondria-rich), intermediate (mitochondria-moderate) and white (mitochondria-poor) fibers. The motor endplate of the white fiber is large and has a complicated structure, that of the red fiber is small and less complicated, and that of the intermediate fiber possesses intermediate characteristics. The slow fiber has zigzag Z-lines and poorly developed sarcoplasmic reticulum (SR), and is multiply innervated with en grappe (grape-like) type motor endplates. The morphological features of the motor endplate in each of these fiber types of the mammalian, avian, reptilian, amphibian, and fish skeletal muscles are reviewed. Special emphasis has been placed on the three-dimensional structure of the motor endplates of the different fiber types as observed by high-resolution scanning electron microscopy. PMID:3066303

  18. Effect of cleft palate repair on the susceptibility to contraction-induced injury of single permeabilized muscle fibers from congenitally-clefted goat palates.

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Despite cleft palate repair, velopharyngeal competence is not achieved in ~ 15% of patients, often necessitating secondary surgical correction. Velopharyngeal competence postrepair may require the conversion of levator veli palatini muscle fibers from injury-susceptible type 2 fibers to injury-resi...

  19. Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model

    PubMed Central

    Parkinson, William M.; Dookwah, Michelle; Dear, Mary Lynn; Gatto, Cheryl L.; Aoki, Kazuhiro; Tiemeyer, Michael; Broadie, Kendal

    2016-01-01

    ABSTRACT Congenital disorders of glycosylation (CDGs) constitute a rapidly growing family of human diseases resulting from heritable mutations in genes driving the production and modification of glycoproteins. The resulting symptomatic hypoglycosylation causes multisystemic defects that include severe neurological impairments, revealing a particularly critical requirement for tightly regulated glycosylation in the nervous system. The most common CDG, CDG-Ia (PMM2-CDG), arises from phosphomannomutase type 2 (PMM2) mutations. Here, we report the generation and characterization of the first Drosophila CDG-Ia model. CRISPR-generated pmm2-null Drosophila mutants display severely disrupted glycosylation and early lethality, whereas RNAi-targeted knockdown of neuronal PMM2 results in a strong shift in the abundance of pauci-mannose glycan, progressive incoordination and later lethality, closely paralleling human CDG-Ia symptoms of shortened lifespan, movement impairments and defective neural development. Analyses of the well-characterized Drosophila neuromuscular junction (NMJ) reveal synaptic glycosylation loss accompanied by defects in both structural architecture and functional neurotransmission. NMJ synaptogenesis is driven by intercellular signals that traverse an extracellular synaptomatrix and are co-regulated by glycosylation and matrix metalloproteinases (MMPs). Specifically, trans-synaptic signaling by the Wnt protein Wingless (Wg) depends on the heparan sulfate proteoglycan (HSPG) co-receptor Dally-like protein (Dlp), which is regulated by synaptic MMP activity. Loss of synaptic MMP2, Wg ligand, Dlp co-receptor and downstream trans-synaptic signaling occurs with PMM2 knockdown. Taken together, this Drosophila CDG disease model provides a new avenue for the dissection of cellular and molecular mechanisms underlying neurological impairments and is a means by which to discover and test novel therapeutic treatment strategies. PMID:26940433

  20. Measurement of Elastic Modulus of Collagen Type I Single Fiber.

    PubMed

    Dutov, Pavel; Antipova, Olga; Varma, Sameer; Orgel, Joseph P R O; Schieber, Jay D

    2016-01-01

    Collagen fibers are the main components of the extra cellular matrix and the primary contributors to the mechanical properties of tissues. Here we report a novel approach to measure the longitudinal component of the elastic moduli of biological fibers under conditions close to those found in vivo and apply it to type I collagen from rat tail tendon. This approach combines optical tweezers, atomic force microscopy, and exploits Euler-Bernoulli elasticity theory for data analysis. This approach also avoids drying for measurements or visualization, since samples are freshly extracted. Importantly, strains are kept below 0.5%, which appear consistent with the linear elastic regime. We find, surprisingly, that the longitudinal elastic modulus of type I collagen cannot be represented by a single quantity but rather is a distribution that is broader than the uncertainty of our experimental technique. The longitudinal component of the single-fiber elastic modulus is between 100 MPa and 360 MPa for samples extracted from different rats and/or different parts of a single tail. Variations are also observed in the fibril-bundle/fibril diameter with an average of 325±40 nm. Since bending forces depend on the diameter to the fourth power, this variation in diameter is important for estimating the range of elastic moduli. The remaining variations in the modulus may be due to differences in composition of the fibril-bundles, or the extent of the proteoglycans constituting fibril-bundles, or that some single fibrils may be of fibril-bundle size. PMID:26800120

  1. Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene

    PubMed Central

    2011-01-01

    Background Congenital dyserythropoietic anemia type II (CDAII), the most common form of CDA, is an autosomal recessive condition. CDAII diagnosis is based on invasive, expensive, and time consuming tests that are available only in specialized laboratories. The recent identification of SEC23B mutations as the cause of CDAII opens new possibilities for the molecular diagnosis of the disease. The aim of this study was to characterize molecular genomic SEC23B defects in 16 unrelated patients affected by CDAII and correlate the identified genetic alterations with SEC23B transcript and protein levels in erythroid precursors. Methods SEC23B was sequenced in 16 patients, their relatives and 100 control participants. SEC23B transcript level were studied by quantitative PCR (qPCR) in peripheral erythroid precursors and lymphocytes from the patients and healthy control participants. Sec23B protein content was analyzed by immunoblotting in samples of erythroblast cells from CDAII patients and healthy controls. Results All of the investigated cases carried SEC23B mutations on both alleles, with the exception of two patients in which a single heterozygous mutation was found. We identified 15 different SEC23B mutations, of which four represent novel mutations: p.Gln214Stop, p.Thr485Ala, p.Val637Gly, and p.Ser727Phe. The CDAII patients exhibited a 40-60% decrease of SEC23B mRNA levels in erythroid precursors when compared with the corresponding cell type from healthy participants. The largest decrease was observed in compound heterozygote patients with missense/nonsense mutations. In three patients, Sec23B protein levels were evaluated in erythroid precursors and found to be strictly correlated with the reduction observed at the transcript level. We also demonstrate that Sec23B mRNA expression levels in lymphocytes and erythroblasts are similar. Conclusions In this study, we identified four novel SEC23B mutations associated with CDAII disease. We also demonstrate that the genetic

  2. Dietary fiber type reflects physiological functionality: comparison of grain fiber, inulin, and polydextrose.

    PubMed

    Raninen, Kaisa; Lappi, Jenni; Mykkänen, Hannu; Poutanen, Kaisa

    2011-01-01

    Dietary fiber is a nutritional concept based not on physiological functions but on defined chemical and physical properties. Recent definitions of dietary fiber differentiate inherent plant cell wall-associated fiber from isolated or synthetic fiber. For the latter to be defined as fiber, beneficial physiological effects should be demonstrated, such as laxative effects, fermentability, attenuation of blood cholesterol levels, or postprandial glucose response. Grain fibers are a major natural source of dietary fiber worldwide, while inulin, a soluble indigestible fructose polymer isolated from chicory, and polydextrose, a synthetic indigestible glucose polymer, have more simple structures. Inulin and polydextrose show many of the same functionalities of grain fiber in the large intestine, in that they are fermentable, bifidogenic, and laxative. The reported effects on postprandial blood glucose and fasting cholesterol levels have been modest, but grain fibers also show variable effects. New biomarkers are needed to link the physiological functions of specific fibers with long-term health benefits.

  3. Distribution of tropomyosin isoforms in different types of single fibers isolated from bovine skeletal muscles.

    PubMed

    Oe, M; Ojima, K; Nakajima, I; Chikuni, K; Shibata, M; Muroya, S

    2016-08-01

    To clarify the relationship between myosin heavy chain (MyHC) isoforms and tropomyosin (TPM) isoforms in single fibers, 64 single fibers were isolated from each of bovine three muscles (masseter, semispinalis and semitendinosus). mRNA expressions of MyHC and TPM isoforms were analyzed by real-time PCR. All single fibers from the masseter expressed MyHC-slow. The fibers from the semispinalis expressed both MyHC-slow and 2a. The fibers from the semitendinosus expressed MyHC-slow, 2a and 2x. TPM-1 and TPM-2 were co-expressed in 2a and 2x type fibers, and TPM-2 and TPM-3 were co-expressed in slow type fibers. The expression pattern of TPM isoforms in each fiber type was similar between fibers isolated from different muscles. These results suggest that TPM-1 and TPM-3 isoforms correspond to the function of 2a or 2x type fibers and slow type fibers, respectively, with TPM-2 in common. Furthermore, the patterns of MyHC and TPM isoform combinations did not vary among single fibers isolated from the individual muscles examined.

  4. Distribution of tropomyosin isoforms in different types of single fibers isolated from bovine skeletal muscles.

    PubMed

    Oe, M; Ojima, K; Nakajima, I; Chikuni, K; Shibata, M; Muroya, S

    2016-08-01

    To clarify the relationship between myosin heavy chain (MyHC) isoforms and tropomyosin (TPM) isoforms in single fibers, 64 single fibers were isolated from each of bovine three muscles (masseter, semispinalis and semitendinosus). mRNA expressions of MyHC and TPM isoforms were analyzed by real-time PCR. All single fibers from the masseter expressed MyHC-slow. The fibers from the semispinalis expressed both MyHC-slow and 2a. The fibers from the semitendinosus expressed MyHC-slow, 2a and 2x. TPM-1 and TPM-2 were co-expressed in 2a and 2x type fibers, and TPM-2 and TPM-3 were co-expressed in slow type fibers. The expression pattern of TPM isoforms in each fiber type was similar between fibers isolated from different muscles. These results suggest that TPM-1 and TPM-3 isoforms correspond to the function of 2a or 2x type fibers and slow type fibers, respectively, with TPM-2 in common. Furthermore, the patterns of MyHC and TPM isoform combinations did not vary among single fibers isolated from the individual muscles examined. PMID:27105153

  5. Congenital myopathies: clinical and immunohistochemical study.

    PubMed

    Thaha, Fazil; Gayathri, N; Nalini, A

    2011-01-01

    Congenital myopathies (CMs), a group of relatively non-progressive disorders presents with weakness and hypotonia of varying severity, morphologically recognized by specific structural abnormalities within the myofiber. This report presents the clinical and Histopathological features of 40 patients with CMs. Centronuclear myopathy was the commonest (40%) followed by congenital fiber type disproportion (37.5%). Other less common CMs included: myotubular myopathy (5%), nemaline myopathy (5%), central core disease (5%), multicore disease (2.5%) and congenital myopathy with tubular aggregate (5%). Immunolabeling to desmin corresponded to morphological changes within the myofibers while vimentin was negative in all the patients. There is no combined role of these proteins in the disease process. PMID:22234203

  6. Congenital Hydrocephalus.

    PubMed

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure.

  7. Erythropoiesis: Case Report: Congenital Dyserythropoietic Anemia Type II in a Woman Presenting with Jaundice, Anemia, and Splenomegaly.

    PubMed

    Abali, HÜSEYIN; Haznedaroglu, IBRAHIM C.; Sayinalp, NILGÜN; Kosar, ALI; Büyükasik, YAHYA; Özatli, DÜZGÜN; Batman, FIGEN

    1999-01-01

    Congenital dyserythropoietic anemias (CDAs) are extremely rare types of hemolytic anemias that share similar morphological findings and are characterized by ineffective erythropoiesis. CDAs are divided into three major groups and few variants. The most frequently encountered type is CDA type II (HEMPAS: Hereditary erythroblastic multinuclearity associated with a positive acidified serum test). We herein report a case of CDA type II, who presents with a mild anemia, jaundice, splenomegaly, cholelithiasis and hemolysis. CDA type II, about 120 cases have been reported so far, has recently been discovered to be due to the defective glycolization of membrane proteins on the erythrocyte progenitors. The responsible gene has been found to be located on the Chromosome 20q only a few years ago.

  8. Congenital Hypothyroidism

    MedlinePlus

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  9. Human Masseter Muscle Fiber Type Properties, Skeletal Malocclusions, and Muscle Growth Factor Expression

    PubMed Central

    Sciote, James Joseph; Horton, Michael J.; Rowlerson, Anthea M.; Ferri, Joel; Close, John M.; Raoul, Gwenael

    2013-01-01

    Purpose We identified masseter muscle fiber type property differences in subjects with dentofacial deformities. Patients and Methods Samples of masseter muscle were collected from 139 young adults during mandibular osteotomy procedures to assess mean fiber areas and percent tissue occupancies for the 4 fiber types that comprise the muscle. Subjects were classified into 1 of 6 malocclusion groups based on the presence of a skeletal Class II or III sagittal dimension malocclusion and either a skeletal open, deep, or normal bite vertical dimension malocclusion. In a subpopulation, relative quantities of the muscle growth factors IGF-I and GDF-8 gene expression were quantified by real-time polymerase chain reaction. Results Fiber properties were not different in the sagittal malocclusion groups, but were very different in the vertical malocclusion groups (P ≤ .0004). There were significant mean fiber area differences for type II (P ≤ .0004) and type neonatal—atrial (P = .001) fiber types and for fiber percent occupancy differences for both type I–II hybrid fibers and type II fibers (P ≤ .0004). Growth factor expression differed by gender for IGF-I (P = .02) and GDF-8 (P < .01). The ratio of IGF-I:GDF-8 expression associates with type I and II mean fiber areas. Conclusion Fiber type properties are very closely associated with variations in vertical growth of the face, with statistical significance for overall comparisons at P ≤ .0004. An increase in masseter muscle type II fiber mean fiber areas and percent tissue occupancies is inversely related to increases in vertical facial dimension. PMID:21821327

  10. Miniaturized fiber-optic Michelson-type interferometric sensors

    NASA Technical Reports Server (NTRS)

    Murphy, Kent A.; Miller, William V., III; Tran, Tuan A.; Vengsarkar, Ashish M.; Claus, Richard O.

    1991-01-01

    A novel, miniaturized Michelson-type fiber-optic interferometric sensor that is relatively insensitive to temperature drifts is presented. A fused-biconical tapered coupler is cleaved immediately after the coupled length and polished down to the region of the fused cladding, but short of the interaction region. The end of one core is selectively coated with a reflective surface and is used as the reference arm; the other core serves as the sensing arm. The detection of surface acoustic waves, microdisplacements, and magnetic fields is reported. The sensor is shown to be highly stable in comparison to a classic homodyne, uncompensated Michelson interferometer, and signal-to-noise ratios of 65 dB have been obtained.

  11. Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?

    PubMed

    Istek, Seref

    2014-06-04

    Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation.

  12. Changes in skeletal muscle biochemistry and histology relative to fiber type in rats with heart failure

    NASA Technical Reports Server (NTRS)

    Delp, M. D.; Duan, C.; Mattson, J. P.; Musch, T. I.

    1997-01-01

    One of the primary consequences of left ventricular dysfunction (LVD) after myocardial infarction is a decrement in exercise capacity. Several factors have been hypothesized to account for this decrement, including alterations in skeletal muscle metabolism and aerobic capacity. The purpose of this study was to determine whether LVD-induced alterations in skeletal muscle enzyme activities, fiber composition, and fiber size are 1) generalized in muscles or specific to muscles composed primarily of a given fiber type and 2) related to the severity of the LVD. Female Wistar rats were divided into three groups: sham-operated controls (n = 13) and rats with moderate (n = 10) and severe (n = 7) LVD. LVD was surgically induced by ligating the left main coronary artery and resulted in elevations (P < 0.05) in left ventricular end-diastolic pressure (sham, 5 +/- 1 mmHg; moderate LVD, 11 +/- 1 mmHg; severe LVD, 25 +/- 1 mmHg). Moderate LVD decreased the activities of phosphofructokinase (PFK) and citrate synthase in one muscle composed of type IIB fibers but did not modify fiber composition or size of any muscle studied. However, severe LVD diminished the activity of enzymes involved in terminal and beta-oxidation in muscles composed primarily of type I fibers, type IIA fibers, and type IIB fibers. In addition, severe LVD induced a reduction in the activity of PFK in type IIB muscle, a 10% reduction in the percentage of type IID/X fibers, and a corresponding increase in the portion of type IIB fibers. Atrophy of type I fibers, type IIA fibers, and/or type IIB fibers occurred in soleus and plantaris muscles of rats with severe LVD. These data indicate that rats with severe LVD after myocardial infarction exhibit 1) decrements in mitochondrial enzyme activities independent of muscle fiber composition, 2) a reduction in PFK activity in type IIB muscle, 3) transformation of type IID/X to type IIB fibers, and 4) atrophy of type I, IIA, and IIB fibers.

  13. Mechanical properties of single electrospun collagen type I fibers.

    PubMed

    Yang, Lanti; Fitié, Carel F C; van der Werf, Kees O; Bennink, Martin L; Dijkstra, Pieter J; Feijen, Jan

    2008-03-01

    The mechanical properties of single electrospun collagen fibers were investigated using scanning mode bending tests performed with an AFM. Electrospun collagen fibers with diameters ranging from 100 to 600 nm were successfully produced by electrospinning of an 8% w/v solution of acid soluble collagen in 1,1,1,3,3,3-hexafluoro-2-propanol (HFP). Circular dichroism (CD) spectroscopy showed that 45% of the triple helical structure of collagen molecules was denatured in the electrospun fibers. The electrospun fibers were water soluble and became insoluble after cross-linking with glutaraldehyde vapor for 24h. The bending moduli and shear moduli of both non- and cross-linked single electrospun collagen fibers were determined by scanning mode bending tests after depositing the fibers on glass substrates containing micro-channels. The bending moduli of the electrospun fibers ranged from 1.3 to 7.8 GPa at ambient conditions and ranged from 0.07 to 0.26 MPa when immersed in PBS buffer. As the diameter of the fibrils increased, a decrease in bending modulus was measured clearly indicating mechanical anisotropy of the fiber. Cross-linking of the electrospun fibers with glutaraldehyde vapor increased the shear modulus of the fiber from approximately 30 to approximately 50 MPa at ambient conditions. PMID:18082253

  14. Congenital Muscle Disease Study of Patient and Family Reported Medical Information

    ClinicalTrials.gov

    2016-07-27

    Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

  15. Contractile properties of rat, rhesus monkey, and human type I muscle fibers

    NASA Technical Reports Server (NTRS)

    Widrick, J. J.; Romatowski, J. G.; Karhanek, M.; Fitts, R. H.

    1997-01-01

    It is well known that skeletal muscle intrinsic maximal shortening velocity is inversely related to species body mass. However, there is uncertainty regarding the relationship between the contractile properties of muscle fibers obtained from commonly studied laboratory animals and those obtained from humans. In this study we determined the contractile properties of single chemically skinned fibers prepared from rat, rhesus monkey, and human soleus and gastrocnemius muscle samples under identical experimental conditions. All fibers used for analysis expressed type I myosin heavy chain as determined by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Allometric coefficients for type I fibers from each muscle indicated that there was little change in peak tension (force/fiber cross-sectional area) across species. In contrast, both soleus and gastrocnemius type I fiber maximal unloaded shortening velocity (Vo), the y-intercept of the force-velocity relationship (Vmax), peak power per unit fiber length, and peak power normalized for fiber length and cross-sectional area were all inversely related to species body mass. The present allometric coefficients for soleus fiber Vo (-0.18) and Vmax (-0.11) are in good agreement with published values for soleus fibers obtained from common laboratory and domesticated mammals. Taken together, these observations suggest that the Vo of slow fibers from quadrupeds and humans scale similarly and can be described by the same quantitative relationships. These findings have implications in the design and interpretation of experiments, especially those that use small laboratory mammals as a model of human muscle function.

  16. Muscle fiber type specific induction of slow myosin heavy chain 2 gene expression by electrical stimulation

    SciTech Connect

    Crew, Jennifer R.; Falzari, Kanakeshwari; DiMario, Joseph X.

    2010-04-01

    Vertebrate skeletal muscle fiber types are defined by a broad array of differentially expressed contractile and metabolic protein genes. The mechanisms that establish and maintain these different fiber types vary throughout development and with changing functional demand. Chicken skeletal muscle fibers can be generally categorized as fast and fast/slow based on expression of the slow myosin heavy chain 2 (MyHC2) gene in fast/slow muscle fibers. To investigate the cellular and molecular mechanisms that control fiber type formation in secondary or fetal muscle fibers, myoblasts from the fast pectoralis major (PM) and fast/slow medial adductor (MA) muscles were isolated, allowed to differentiate in vitro, and electrically stimulated. MA muscle fibers were induced to express the slow MyHC2 gene by electrical stimulation, whereas PM muscle fibers did not express the slow MyHC2 gene under identical stimulation conditions. However, PM muscle fibers did express the slow MyHC2 gene when electrical stimulation was combined with inhibition of inositol triphosphate receptor (IP3R) activity. Electrical stimulation was sufficient to increase nuclear localization of expressed nuclear-factor-of-activated-T-cells (NFAT), NFAT-mediated transcription, and slow MyHC2 promoter activity in MA muscle fibers. In contrast, both electrical stimulation and inhibitors of IP3R activity were required for these effects in PM muscle fibers. Electrical stimulation also increased levels of peroxisome-proliferator-activated receptor-{gamma} co-activator-1 (PGC-1{alpha}) protein in PM and MA muscle fibers. These results indicate that MA muscle fibers can be induced by electrical stimulation to express the slow MyHC2 gene and that fast PM muscle fibers are refractory to stimulation-induced slow MyHC2 gene expression due to fast PM muscle fiber specific cellular mechanisms involving IP3R activity.

  17. Folic acid flour fortification: impact on the frequencies of 52 congenital anomaly types in three South American countries.

    PubMed

    López-Camelo, Jorge S; Castilla, Eduardo E; Orioli, Iêda M

    2010-10-01

    The aim of the present investigation was to search for a reduction in birth prevalence estimates of 52 selected types of congenital anomalies, associated with folic acid fortification programs in Chile, Argentina, and Brazil. The material included 3,347,559 total births in 77 hospitals of the three countries during the 1982-2007 period: 596,704 births (17 hospitals) in Chile, 1,643,341 (41 hospitals) in Argentina, and 1,107,514 (19 hospitals) in Brazil. We compared pre- and post-fortification rates within each hospital and the resulting Prevalence Rate Ratios (PRRs) were pooled by country. Statistically significant reductions in birth prevalence estimates after fortification were observed for neural tube defects (NTDs), septal heart defects, transverse limb deficiencies, and subluxation of the hip. However, only the reduction of NTDs appeared to be associated with folic acid fortification and not due to other factors, because of its consistency among the three countries, as well as with previously published reports, and its strong statistical significance. Among the NTDs, the maximum prevalence reduction was observed for isolated cephalic (cervical-thoracic) spina bifida, followed by caudal (lumbo-sacral) spina bifida, anencephaly, and cephalocele. This observation suggests etiologic and pathogenetic heterogeneity among different levels of spina bifida, as well as among different NTD subtypes. We concluded that food fortification with folic acid prevents NTDs but not other types of congenital anomalies.

  18. The Relationships Among Isokinetic Endurance, Initial Strength Level, and Fiber Type.

    ERIC Educational Resources Information Center

    Clarkson, Priscilla M.; And Others

    1982-01-01

    Knee extension isokinetic peak torque was assessed at four angular velocities, and isokinetic endurance was assessed in eight college age men. Muscle fiber type was determined and related to isokinetic strength and fatigability. Results indicate that factors other than fiber type and initial strength level must influence the rate of isokinetic…

  19. Sequential muscle biopsy changes in a case of congenital myopathy.

    SciTech Connect

    Danon, M. J.; Giometti, C. S.; Manaligod, J. R.; Swisher, C.; Center for Mechanistic Biology and Biotechnology; New York Medical Coll.; Univ. of Illinois at Chicago; Children's Memorial Hospital

    1997-05-01

    Muscle biopsies at age 7 months in a set of dizygotic male twins born floppy showed typical features of congenital fiber-type disproportion (CFTD). One of the twins died at age 1 year due to respiratory complications. The second one subsequently developed facial diplegia and external ophthalmoplegia. He never walked, remained wheelchair bound, and required continuous ventilatory support. He underwent repeat biopsies at ages 2 and 4, which showed many atrophic type 1 muscle fibers containing central nuclei and severe type 2 fiber deficiency compatible with centronuclear myopathy (CNM). Two-dimensional gel electrophoresis of muscle showed decreases of type II myosin light chains 2 and 3, suggestive of histochemical type I fiber deficiency. The progressive nature of morphological changes in one of our patients cannot be explained by maturational arrest. Repeat biopsies in cases of CFTD with rapid clinical deterioration may very well show CNM.

  20. Mesothelioma and asbestos fiber type. Evidence from lung tissue analyses.

    PubMed

    McDonald, J C; Armstrong, B; Case, B; Doell, D; McCaughey, W T; McDonald, A D; Sébastien, P

    1989-04-15

    Lung tissue samples from 78 cases from autopsy of mesothelioma in Canada, 1980 through 1984, and from matched referents were examined by optical and analytical transmission electron microscopic study. Concentrations of amosite, crocidolite, and tremolite fibers, and of typical asbestos bodies discriminated sharply between cases and referents. The distributions of chrysotile and anthophyllite/talc fibers and of all other natural and man-made inorganic fibers (greater than or equal to 8 microns) in the two series were quite similar. Relative risk was related to the concentration of long (greater than or equal to 8 microns) amphibole fibers with no additional information provided by shorter fibers. The proportion of long fibers was much higher for amphiboles than chrysotile and, except for chrysotile, systematically higher in cases than referents. Amphibole asbestos fibers could explain most mesothelioma cases in Canada and other inorganic fibers, including chrysotile, very few. Fibrous tremolite, contaminant of many industrial minerals including chrysotile, probably explained most cases in the Quebec mining region and perhaps 20% elsewhere.

  1. SiC/SiC Composites: The Effect of Fiber Type and Fiber Architecture on Mechanical Properties

    NASA Technical Reports Server (NTRS)

    Morscher, Gregory N.

    2008-01-01

    Woven SiC/SiC composites represent a broad family of composites with a broad range of properties which are of interest for many energy-based and aero-based applications. Two important features of SiC/SiC composites which one must consider are the reinforcing fibers themselves and the fiber-architecture they are formed into. The range of choices for these two features can result in a wide range of elastic, mechanical, thermal, and electrical properties. In this presentation, it will be demonstrated how the effect of fiber-type and fiber architecture effects the important property of "matrix cracking stress" for slurry-cast melt-infiltrated SiC matrix composites, which is often considered to be a critical design parameter for this system of composites.

  2. Fiber types in the longissimus muscle from water buffalo and selected domestic beef breeds.

    PubMed

    Solomon, M B; West, R L; Carpenter, J W

    1985-01-01

    The distribution and area of longissimus muscle fiber types from two intact male water buffaloes, one Angus bull and one Charolais bull were evaluated. Only fibers of aerobic-oxidative capacity were present in the muscles of the water buffalo examined. The absence of αW fibers may imply some significant and distinct differences in muscle metabolic and functional characteristics. All three fibers types were present in the muscles from the Angus and Charolais bulls. These findings may implicate distinct and unique differences in meat characteristics from water buffalo, such as in organoleptic and/or processing traits.

  3. Fiber

    MedlinePlus

    ... it can help with weight control. Fiber aids digestion and helps prevent constipation . It is sometimes used ... fiber attracts water and turns to gel during digestion. This slows digestion. Soluble fiber is found in ...

  4. Metabolic response in type I and type II muscle fibers during a 30-s cycle sprint in men and women.

    PubMed

    Esbjörnsson-Liljedahl, M; Sundberg, C J; Norman, B; Jansson, E

    1999-10-01

    The acute metabolic response to sprint exercise was studied in 20 male and 19 female students. We hypothesized that the reduction of muscle glycogen content during sprint exercise would be smaller in women than in men and that a possible gender difference in glycogen reduction would be higher in type II than in type I fibers. The exercise-induced increase in blood lactate concentration was 22% smaller in women than in men. A considerable reduction of ATP (50%), phosphocreatine (83%), and glycogen (35%) was found in type II muscle fibers, and it did not differ between the genders. A smaller reduction of ATP (17%) and phosphocreatine (78%) was found in type I fibers, and it did not differ between the genders. However, the exercise-induced reduction in glycogen content in type I fibers was 50% smaller in women than in men. The hypothesis was indeed partly confirmed: the exercise-induced glycogen reduction was attenuated in women compared with men, but the gender difference was in type I rather than in type II fibers. Fiber-type-specific and gender-related differences in the metabolic response to sprint exercise might have implications for the design of training programs for men and women.

  5. Congenital hypoaldosteronism.

    PubMed

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R

    2008-08-01

    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

  6. Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19

    SciTech Connect

    Kestilae, M.; Maennikkoe, M.; Tryggvason, K.; Savolainen, E.R. ); Holmberg, C.; Peltonen, L. ); Gyapay, G.; Weissenbach, J.

    1994-05-01

    Congenital nephrotic syndrome of the Finnish (CNF) is an autosomal recessive disease that is characterized by massive proteinuria and nephrotic syndrome at birth. CNF represents a unique, apparently specific dysfunction of the renal basement membranes, and the estimated incidence of CNF in the isolated population of Finland is 1 in 8,000 newborns. The basic defect is unknown, and no specific biochemical defect or chromosomal aberrations have been described. Here the authors report the assignment of the CNF locus to 19[sub q]12-q13.1 on the basis of linkage analysis in 17 Finnish families. Multipoint analyses and observed recombination events place the CNF locus between multiallelic markers D19S416 and D19S224, and the significant linkage disequilibrium observed suggests that the CNF gene lies in the immediate vicinity of the markers D19S224 and D19S220. 16 refs., 4 figs., 4 tabs.

  7. The influence of discoidin domain receptor 2 on the persistence length of collagen type I fibers.

    PubMed

    Sivakumar, Lalitha; Agarwal, Gunjan

    2010-06-01

    Collagen fibers in the vertebrate tissue are responsible for its tensile strength. A disruption in the morphological or mechanical properties of collagen fibers is bound to impact tensile strength and contractility of tissues and affect several cellular processes. We had recently established that binding of discoidin domain receptor (DDR2) with collagen type I results in disruption of the native structure and morphology of collagen fibers. In this study we investigate if DDR2 affects the mechanical properties of collagen fibers. We used an analytical approach to determine the persistence length (P(L)) of collagen fibers from transmission electron microscope images of immobilized collagen. Fluctuations in the curvature of collagen fibers formed in-vitro (with or without recombinant DDR2) were analyzed to ascertain their P(L). The P(L) values and fiber-diameter measurements were utilized to estimate Young's Modulus (E) of collagen fibers. Our results show that DDR2 significantly reduced P(L) and E of collagen fibers. We further found that P(L) for native collagen fibers increases as a function of collagen concentration with little dependence on fiber diameter. These results signify a physiological role of DDR2 in modulating extracellular matrix stiffness, which may be of relevance for tissue engineering and medical implants especially in diseases where DDR2 is upregulated.

  8. Early changes of type 2B fibers after denervation of rat EDL skeletal muscle.

    PubMed

    Germinario, Elena; Esposito, Alessandra; Megighian, Aram; Midrio, Menotti; Biral, Donatella; Betto, Romeo; Danieli-Betto, Daniela

    2002-05-01

    Skeletal muscle type 2B fibers normally receive a moderate level of motoneuron discharge. As a consequence, we hypothesize that type 2B fiber properties should be less sensitive to the absence of the nerve. Therefore, we have investigated the response of sarcoplasmic reticulum and myofibrillar proteins of type 2B fibers isolated from rat extensor digitorum longus muscle after denervation (2 and 7 days). Single fibers were identified by SDS-PAGE of myosin heavy chain isoforms. Electrophysiological and isometric contractile properties of the whole muscle were also analyzed. The pCa-tension relationship of type 2B single fibers was shifted to the left at 2 days and to right at 7 days after denervation, with significant differences in the Hill coefficients and pCa threshold values in 2- vs. 7-day-denervated fibers. The sarcoplasmic reticulum Ca2+ uptake capacity and rate significantly decreased after 2 days of denervation, whereas both increased at 7 days. Caffeine sensitivity of sarcoplasmic reticulum Ca2+ release was transitory and markedly increased in 2-day-denervated fibers. Our results indicate that type 2B fiber functional properties are highly sensitive to the interruption of nerve supply. Moreover, most of 2-day-denervated changes were reverted at 7 days. PMID:11960956

  9. Reinforcing effects of different fibers on denture base resin based on the fiber type, concentration, and combination.

    PubMed

    Yu, Sang-Hui; Lee, Yoon; Oh, Seunghan; Cho, Hye-Won; Oda, Yutaka; Bae, Ji-Myung

    2012-01-01

    The aim of this study was to evaluate the reinforcing effects of three types of fibers at various concentrations and in different combinations on flexural properties of denture base resin. Glass (GL), polyaromatic polyamide (PA) and ultra-high molecular weight polyethylene (PE) fibers were added to heat-polymerized denture base resin with volume concentrations of 2.6%, 5.3%, and 7.9%, respectively. In addition, hybrid fiber-reinforced composite (FRC) combined with either two or three types of fibers were fabricated. The flexural strength, modulus and toughness of each group were measured with a universal testing machine at a crosshead speed of 5 mm/min. In the single fiber-reinforced composite groups, the 5.3% GL and 7.9% GL had the highest flexural strength and modulus; 5.3% PE was had the highest toughness. Hybrid FRC such as GL/PE, which showed the highest toughness and the flexural strength, was considered to be useful in preventing denture fractures clinically. PMID:23207213

  10. Structure of the C-terminal head domain of the fowl adenovirus type 1 long fiber.

    PubMed

    Guardado-Calvo, Pablo; Llamas-Saiz, Antonio L; Fox, Gavin C; Langlois, Patrick; van Raaij, Mark J

    2007-09-01

    Avian adenovirus CELO (chicken embryo lethal orphan virus, fowl adenovirus type 1) incorporates two different homotrimeric fiber proteins extending from the same penton base: a long fiber (designated fiber 1) and a short fiber (designated fiber 2). The short fibers extend straight outwards from the viral vertices, whilst the long fibers emerge at an angle. In contrast to the short fiber, which binds an unknown avian receptor and has been shown to be essential to the invasiveness of this virus, the long fiber appears to be unnecessary for infection in birds. Both fibers contain a short N-terminal virus-binding peptide, a slender shaft domain and a globular C-terminal head domain; the head domain, by analogy with human adenoviruses, is likely to be involved mainly in receptor binding. This study reports the high-resolution crystal structure of the head domain of the long fiber, solved using single isomorphous replacement (using anomalous signal) and refined against data at 1.6 A (0.16 nm) resolution. The C-terminal globular head domain had an anti-parallel beta-sandwich fold formed by two four-stranded beta-sheets with the same overall topology as human adenovirus fiber heads. The presence in the sequence of characteristic repeats N-terminal to the head domain suggests that the shaft domain contains a triple beta-spiral structure. Implications of the structure for the function and stability of the avian adenovirus long fiber protein are discussed; notably, the structure suggests a different mode of binding to the coxsackievirus and adenovirus receptor from that proposed for the human adenovirus fiber heads.

  11. Effects of Friction Reduction on Fiber Damage in a Saw-Type Lint Cleaner

    Technology Transfer Automated Retrieval System (TEKTRAN)

    U.S. cotton is at a competitive disadvantage from a fiber-quality standpoint, because lint cleaning is required for mechanically harvested cotton, and lint cleaning causes fiber damage. Lint-cleaning research has focused mainly on modifying saw-type lint cleaners, but the work reported here focuses...

  12. Type IIA photosensitivity and formation of pores in optical fibers under intense ultraviolet irradiation

    SciTech Connect

    Kukushkin, S. A.; Shlyagin, M. G.; Swart, P. L.; Chtcherbakov, A. A.; Osipov, A. V.

    2007-09-01

    Formation of the type IIA Bragg gratings in germanosilicate optical fibers is studied. We report the observation of such a type of gratings in the standard single-mode fiber (Corning SMF-28) under different experimental conditions. A mechanism for the type IIA photosensitivity in optical fibers is proposed which is based on nucleation and evolution of pores from vacancy-type defects in fiber areas where a high level of mechanical stress is induced under intense ultraviolet (UV) light. Evolution of fiber core temperature under influence of a single 20 ns light pulse from a KrF excimer laser was measured and compared with theoretical calculations. It was shown that transient thermoinduced stress in the fiber core can achieve a level sufficient for effective nucleation of pores. A theory describing formation of pores in optical fibers has been developed and was used to estimate the pore nucleation rate, concentration, and other parameters of pore evolution for different levels of UV fluence and fiber core stress.

  13. Thin filament diversity and physiological properties of fast and slow fiber types in astronaut leg muscles

    NASA Technical Reports Server (NTRS)

    Riley, Danny A.; Bain, James L W.; Thompson, Joyce L.; Fitts, Robert H.; Widrick, Jeffrey J.; Trappe, Scott W.; Trappe, Todd A.; Costill, David L.

    2002-01-01

    Slow type I fibers in soleus and fast white (IIa/IIx, IIx), fast red (IIa), and slow red (I) fibers in gastrocnemius were examined electron microscopically and physiologically from pre- and postflight biopsies of four astronauts from the 17-day, Life and Microgravity Sciences Spacelab Shuttle Transport System-78 mission. At 2.5-microm sarcomere length, thick filament density is approximately 1,012 filaments/microm(2) in all fiber types and unchanged by spaceflight. In preflight aldehyde-fixed biopsies, gastrocnemius fibers possess higher percentages (approximately 23%) of short thin filaments than soleus (9%). In type I fibers, spaceflight increases short, thin filament content from 9 to 24% in soleus and from 26 to 31% in gastrocnemius. Thick and thin filament spacing is wider at short sarcomere lengths. The Z-band lattice is also expanded, except for soleus type I fibers with presumably stiffer Z bands. Thin filament packing density correlates directly with specific tension for gastrocnemius fibers but not soleus. Thin filament density is inversely related to shortening velocity in all fibers. Thin filament structural variation contributes to the functional diversity of normal and spaceflight-unloaded muscles.

  14. Skeletal muscle fiber types in the ghost crab, Ocypode quadrata: implications for running performance.

    PubMed

    Perry, Michael J; Tait, Jennifer; Hu, John; White, Scott C; Medler, Scott

    2009-03-01

    Ghost crabs possess rapid running capabilities, which make them good candidates for comparing invertebrate exercise physiology with that of more extensively studied vertebrates. While a number of studies have examined various aspects of running physiology and biomechanics in terrestrial crabs, none to date have defined the basic skeletal muscle fiber types that power locomotion. In the current study, we investigated skeletal muscle fiber types comprising the extensor and flexor carpopodite muscles in relation to running performance in the ghost crab. We used kinematic analyses to determine stride frequency and muscle shortening velocity and found that both parameters are similar to those of comparably sized mammals but slower than those observed in running lizards. Using several complementary methods, we found that the muscles are divided into two primary fiber types: those of the proximal and distal regions possess long sarcomeres (6.2+/-2.3 microm) observed in crustacean slow fibers and have characteristics of aerobic fibers whereas those of the muscle mid-region have short sarcomeres (3.5+/-0.4 microm) characteristic of fast fibers and appear to be glycolytic. Each fiber type is characterized by several different myofibrillar protein isoforms including multiple isoforms of myosin heavy chain (MHC), troponin I (TnI), troponin T (TnT) and a crustacean fast muscle protein, P75. Three different isoforms of MHC are differentially expressed in the muscles, with fibers of the mid-region always co-expressing two isoforms at a 1:1 ratio within single fibers. Based on our analyses, we propose that these muscles are functionally divided into a two-geared system, with the aerobic fibers used for slow sustained activities and the glycolytic mid-region fibers being reserved for explosive sprints. Finally, we identified subtle differences in myofibrillar isoform expression correlated with crab body size, which changes by several orders of magnitude during an animal's lifetime.

  15. Consumption of total fiber and types of fiber are associated with a lower prevalence of obesity and abdominal adiposity in US adults. NHANES 1999-2006.

    Technology Transfer Automated Retrieval System (TEKTRAN)

    In this cross-sectional study, an inverse association was found between intakes of total dietary fiber and five types of fiber with Body Mass Index, waist circumference, and percent obese, and with increased waist circumference. Intake of vegetable fiber was not associated with any of the weight mea...

  16. Catalase-positive microperoxisomes in rat soleus and extensor digitorum longus muscle fiber types

    NASA Technical Reports Server (NTRS)

    Riley, Danny A.; Bain, James L. W.; Ellis, Stanley

    1988-01-01

    The size, distribution, and content of catalase-reactive microperoxisomes were investigated cytochemically in three types of muscle fibers from the soleus and the extensor digitorum longus (EDL) of male rats. Muscle fibers were classified on the basis of the mitochondrial content and distribution, the Z-band widths, and the size and shape of myofibrils as the slow-twitch oxidative (SO), the fast-twitch oxidative glycolytic (FOG), and the fast-twitch glycolytic (FG) fibers. It was found that both the EDL and soleus SO fibers possessed the largest microperoxisomes. A comparison of microperoxisome number per muscle fiber area or the microperoxisome area per fiber area revealed following ranking, starting from the largest number and the area-ratio values: soleus SO, EDL SO, EDL FOG, and EDL FG.

  17. Muscle fiber type characteristics of M. deltoideus in wheelchair athletes. Comparison with other trained athletes.

    PubMed

    Tesch, P A; Karlsson, J

    1983-10-01

    Muscle biopsies were obtained from the midportion of m. deltoideus of seven male wheelchair basketball athletes. High caliber kayak paddlers (n = 8) and wrestlers (n = 8) as well as mountain ranger soldiers (n = 8) served as controls. Histochemical methods were applied to identify fast twitch (FT) and slow twitch (ST) fibers and furthermore assess muscle fiber type distribution and muscle fiber cross-sectional area. The relative percentage of FT fibers averaged (+/-SD) 47 +/- 12% and 52 +/- 9% in wheelchair athletes and soldiers. The value obtained in kayakers was significantly lower (30 +/- 11). Both FT area (p less than 0.01) and mean fiber area (p less than 0.05) were significantly larger in wheelchair athletes as compared with soldiers and kayakers. It is suggested that the involvement in specific physical training was the main cause for hypertrophy of individual muscle fibers observed in m. deltoideus of wheelchair athletes.

  18. Cylindrical dilatation of the choledochus: a special type of congenital bile duct dilatation.

    PubMed

    Todani, T; Watanabe, Y; Fujii, T; Toki, A; Uemura, S; Koike, Y

    1985-11-01

    Cylindrical dilatation of the choledochus develops in 20% of patients with congenital bile duct dilatation and usually has acute-angled unions of the pancreatobiliary ductal system. Symptoms generally develop in patients over 1 year of age. The patients frequently complain of abdominal pain, vomiting, and fever as in those with acute pancreatitis. Ultrasonography and infusion cholangiography are the most useful tools in making a correct diagnosis. A high amylase level in the bile caused by the refluxing of pancreatic juice through anomalous ductal unions is commonly observed. This is responsible for biliary perforation in infancy and possibly carcinoma arising in the bile duct. The amylase concentration in the serum at the time of epigastric pain often is high, which leads to the diagnosis of acute pancreatitis. However, evidence of pancreatic inflammation is seldom noted. Accordingly, amylase in the bile may enter the circulating blood through the denuded epithelium or sinusoids of the liver. Excision of the whole extrahepatic duct along with hepaticoenterostomy would be essential for the treatment of cylindrical dilatation of the bile duct, especially when an anomalous ductal union is present.

  19. Muscle fiber type distribution in climbing Hawaiian gobioid fishes: ontogeny and correlations with locomotor performance.

    PubMed

    Cediel, Roberto A; Blob, Richard W; Schrank, Gordon D; Plourde, Robert C; Schoenfuss, Heiko L

    2008-01-01

    Three species of Hawaiian amphidromous gobioid fishes are remarkable in their ability to climb waterfalls up to several hundred meters tall. Juvenile Lentipes concolor and Awaous guamensis climb using rapid bursts of axial undulation, whereas juvenile Sicyopterus stimpsoni climb using much slower movements, alternately attaching oral and pelvic sucking disks to the substrate during prolonged bouts of several cycles. Based on these differing climbing styles, we hypothesized that propulsive musculature in juvenile L. concolor and A. guamensis would be dominated by white muscle fibers, whereas S. stimpsoni would exhibit a greater proportion of red muscle fibers than other climbing species. We further predicted that, because adults of these species shift from climbing to burst swimming as their main locomotor behavior, muscle from adult fish of all three species would be dominated by white fibers. To test these hypotheses, we used ATPase assays to evaluate muscle fiber type distribution in Hawaiian climbing gobies for three anatomical regions (midbody, anal, and tail). Axial musculature was dominated by white muscle fibers in juveniles of all three species, but juvenile S. stimpsoni had a significantly greater proportion of red fibers than the other two species. Fiber type proportions of adult fishes did not differ significantly from those of juveniles. Thus, muscle fiber type proportions in juveniles appear to help accommodate differences in locomotor demands among these species, indicating that they overcome the common challenge of waterfall climbing through both diverse behaviors and physiological specializations. PMID:18222661

  20. Muscle fiber type distribution in climbing Hawaiian gobioid fishes: ontogeny and correlations with locomotor performance.

    PubMed

    Cediel, Roberto A; Blob, Richard W; Schrank, Gordon D; Plourde, Robert C; Schoenfuss, Heiko L

    2008-01-01

    Three species of Hawaiian amphidromous gobioid fishes are remarkable in their ability to climb waterfalls up to several hundred meters tall. Juvenile Lentipes concolor and Awaous guamensis climb using rapid bursts of axial undulation, whereas juvenile Sicyopterus stimpsoni climb using much slower movements, alternately attaching oral and pelvic sucking disks to the substrate during prolonged bouts of several cycles. Based on these differing climbing styles, we hypothesized that propulsive musculature in juvenile L. concolor and A. guamensis would be dominated by white muscle fibers, whereas S. stimpsoni would exhibit a greater proportion of red muscle fibers than other climbing species. We further predicted that, because adults of these species shift from climbing to burst swimming as their main locomotor behavior, muscle from adult fish of all three species would be dominated by white fibers. To test these hypotheses, we used ATPase assays to evaluate muscle fiber type distribution in Hawaiian climbing gobies for three anatomical regions (midbody, anal, and tail). Axial musculature was dominated by white muscle fibers in juveniles of all three species, but juvenile S. stimpsoni had a significantly greater proportion of red fibers than the other two species. Fiber type proportions of adult fishes did not differ significantly from those of juveniles. Thus, muscle fiber type proportions in juveniles appear to help accommodate differences in locomotor demands among these species, indicating that they overcome the common challenge of waterfall climbing through both diverse behaviors and physiological specializations.

  1. Muscle fiber type characterization and myosin heavy chain (MyHC) isoform expression in Mediterranean buffaloes.

    PubMed

    Francisco, C L; Jorge, A M; Dal-Pai-Silva, M; Carani, F R; Cabeço, L C; Silva, S R

    2011-07-01

    This study aimed to evaluate myosin heavy chain (MyHC) isoform expression and muscle fiber types of Longissimus dorsi (LD) and Semitendinosus (ST) in Mediterranean buffaloes and possible fibers muscles modulation according to different slaughter weights. The presence of MyHC IIb isoforms was not found. Only three isoforms of MyHC (IIa, IIx/d and I) were observed and their percentages did not vary significantly among slaughter weights. The confirmation of the presence of hybrid muscles fibers (IIA/X) in LD and ST muscles necessitated classifying the fiber types into fast and slow according to their contractile activity, by m-ATPase assay. For both muscles, the muscle fiber frequency was higher for fast than for slow fibers in all weight groups. There was a difference (P<0.05) in the frequency of LD and ST muscle fiber types according to slaughter weights, which demonstrate that the slaughter weight influences the profile of muscle fibers from buffaloes. PMID:21371827

  2. Mass fusion splicing machine for ribbon-type optical fibers

    NASA Astrophysics Data System (ADS)

    Osaka, K.; Yanagi, T.; Asano, Y.

    1986-11-01

    A mass fusion splicer was designed and manufactured. Using this splicer, mass fusion splicing of optical fiber ribbons was investigated. Ten-fiber ribbon tapes were cut and spliced at an average loss of 0.08 dB for GI and 0.24 dB for SM. They were reinforced by heat-shrinkable tubes with EVA adhesive improved for ribbon tape. An average tensile strength until break was about 3.2 kg soon after splice and about 8.3 kg after reinforcement.

  3. CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

    PubMed Central

    Slavotinek, Anne; Kaylor, Julie; Pierce, Heather; Cahr, Michelle; DeWard, Stephanie J.; Schneidman-Duhovny, Dina; Alsadah, Adnan; Salem, Fadi; Schmajuk, Gabriela; Mehta, Lakshmi

    2015-01-01

    We report five fetuses and a child from three families who shared a phenotype comprising cerebral ventriculomegaly and echogenic kidneys with histopathological findings of congenital nephrosis. The presenting features were greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (AFAFP) levels or abnormalities visualized on ultrasound scan during the second trimester of pregnancy. Exome sequencing revealed deleterious sequence variants in Crumbs, Drosophila, Homolog of, 2 (CRB2) consistent with autosomal-recessive inheritance. Two fetuses with cerebral ventriculomegaly and renal microcysts were compound heterozygotes for p.Asn800Lys and p.Trp759Ter, one fetus with renal microcysts was a compound heterozygote for p.Glu643Ala and p.Asn800Lys, and one child with cerebral ventriculomegaly, periventricular heterotopias, echogenic kidneys, and renal failure was homozygous for p.Arg633Trp in CRB2. Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1). Loss of function for crb2b and nphs1 in Danio rerio were previously shown to result in loss of the slit diaphragms of the podocytes, leading to the hypothesis that nephrosis develops from an inability to develop a functional glomerular barrier. We conclude that the phenotype associated with CRB2 mutations is pleiotropic and that the condition is an important consideration in the evaluation of high MSAFP/AFAFP where a renal cause is suspected. PMID:25557780

  4. CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

    PubMed

    Slavotinek, Anne; Kaylor, Julie; Pierce, Heather; Cahr, Michelle; DeWard, Stephanie J; Schneidman-Duhovny, Dina; Alsadah, Adnan; Salem, Fadi; Schmajuk, Gabriela; Mehta, Lakshmi

    2015-01-01

    We report five fetuses and a child from three families who shared a phenotype comprising cerebral ventriculomegaly and echogenic kidneys with histopathological findings of congenital nephrosis. The presenting features were greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (AFAFP) levels or abnormalities visualized on ultrasound scan during the second trimester of pregnancy. Exome sequencing revealed deleterious sequence variants in Crumbs, Drosophila, Homolog of, 2 (CRB2) consistent with autosomal-recessive inheritance. Two fetuses with cerebral ventriculomegaly and renal microcysts were compound heterozygotes for p.Asn800Lys and p.Trp759Ter, one fetus with renal microcysts was a compound heterozygote for p.Glu643Ala and p.Asn800Lys, and one child with cerebral ventriculomegaly, periventricular heterotopias, echogenic kidneys, and renal failure was homozygous for p.Arg633Trp in CRB2. Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1). Loss of function for crb2b and nphs1 in Danio rerio were previously shown to result in loss of the slit diaphragms of the podocytes, leading to the hypothesis that nephrosis develops from an inability to develop a functional glomerular barrier. We conclude that the phenotype associated with CRB2 mutations is pleiotropic and that the condition is an important consideration in the evaluation of high MSAFP/AFAFP where a renal cause is suspected.

  5. Fnip1 regulates skeletal muscle fiber type specification, fatigue resistance, and susceptibility to muscular dystrophy

    PubMed Central

    Reyes, Nicholas L.; Banks, Glen B.; Tsang, Mark; Margineantu, Daciana; Gu, Haiwei; Djukovic, Danijel; Chan, Jacky; Torres, Michelle; Liggitt, H. Denny; Hirenallur-S, Dinesh K.; Hockenbery, David M.; Raftery, Daniel; Iritani, Brian M.

    2015-01-01

    Mammalian skeletal muscle is broadly characterized by the presence of two distinct categories of muscle fibers called type I “red” slow twitch and type II “white” fast twitch, which display marked differences in contraction strength, metabolic strategies, and susceptibility to fatigue. The relative representation of each fiber type can have major influences on susceptibility to obesity, diabetes, and muscular dystrophies. However, the molecular factors controlling fiber type specification remain incompletely defined. In this study, we describe the control of fiber type specification and susceptibility to metabolic disease by folliculin interacting protein-1 (Fnip1). Using Fnip1 null mice, we found that loss of Fnip1 increased the representation of type I fibers characterized by increased myoglobin, slow twitch markers [myosin heavy chain 7 (MyH7), succinate dehydrogenase, troponin I 1, troponin C1, troponin T1], capillary density, and mitochondria number. Cultured Fnip1-null muscle fibers had higher oxidative capacity, and isolated Fnip1-null skeletal muscles were more resistant to postcontraction fatigue relative to WT skeletal muscles. Biochemical analyses revealed increased activation of the metabolic sensor AMP kinase (AMPK), and increased expression of the AMPK-target and transcriptional coactivator PGC1α in Fnip1 null skeletal muscle. Genetic disruption of PGC1α rescued normal levels of type I fiber markers MyH7 and myoglobin in Fnip1-null mice. Remarkably, loss of Fnip1 profoundly mitigated muscle damage in a murine model of Duchenne muscular dystrophy. These results indicate that Fnip1 controls skeletal muscle fiber type specification and warrant further study to determine whether inhibition of Fnip1 has therapeutic potential in muscular dystrophy diseases. PMID:25548157

  6. Fnip1 regulates skeletal muscle fiber type specification, fatigue resistance, and susceptibility to muscular dystrophy.

    PubMed

    Reyes, Nicholas L; Banks, Glen B; Tsang, Mark; Margineantu, Daciana; Gu, Haiwei; Djukovic, Danijel; Chan, Jacky; Torres, Michelle; Liggitt, H Denny; Hirenallur-S, Dinesh K; Hockenbery, David M; Raftery, Daniel; Iritani, Brian M

    2015-01-13

    Mammalian skeletal muscle is broadly characterized by the presence of two distinct categories of muscle fibers called type I "red" slow twitch and type II "white" fast twitch, which display marked differences in contraction strength, metabolic strategies, and susceptibility to fatigue. The relative representation of each fiber type can have major influences on susceptibility to obesity, diabetes, and muscular dystrophies. However, the molecular factors controlling fiber type specification remain incompletely defined. In this study, we describe the control of fiber type specification and susceptibility to metabolic disease by folliculin interacting protein-1 (Fnip1). Using Fnip1 null mice, we found that loss of Fnip1 increased the representation of type I fibers characterized by increased myoglobin, slow twitch markers [myosin heavy chain 7 (MyH7), succinate dehydrogenase, troponin I 1, troponin C1, troponin T1], capillary density, and mitochondria number. Cultured Fnip1-null muscle fibers had higher oxidative capacity, and isolated Fnip1-null skeletal muscles were more resistant to postcontraction fatigue relative to WT skeletal muscles. Biochemical analyses revealed increased activation of the metabolic sensor AMP kinase (AMPK), and increased expression of the AMPK-target and transcriptional coactivator PGC1α in Fnip1 null skeletal muscle. Genetic disruption of PGC1α rescued normal levels of type I fiber markers MyH7 and myoglobin in Fnip1-null mice. Remarkably, loss of Fnip1 profoundly mitigated muscle damage in a murine model of Duchenne muscular dystrophy. These results indicate that Fnip1 controls skeletal muscle fiber type specification and warrant further study to determine whether inhibition of Fnip1 has therapeutic potential in muscular dystrophy diseases.

  7. Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease.

    PubMed

    Talbot, Jared; Maves, Lisa

    2016-07-01

    Skeletal muscle fibers are classified into fiber types, in particular, slow twitch versus fast twitch. Muscle fiber types are generally defined by the particular myosin heavy chain isoforms that they express, but many other components contribute to a fiber's physiological characteristics. Skeletal muscle fiber type can have a profound impact on muscle diseases, including certain muscular dystrophies and sarcopenia, the aging-induced loss of muscle mass and strength. These findings suggest that some muscle diseases may be treated by shifting fiber type characteristics either from slow to fast, or fast to slow phenotypes, depending on the disease. Recent studies have begun to address which components of muscle fiber types mediate their susceptibility or resistance to muscle disease. However, for many diseases it remains largely unclear why certain fiber types are affected. A substantial body of work has revealed molecular pathways that regulate muscle fiber type plasticity and early developmental muscle fiber identity. For instance, recent studies have revealed many factors that regulate muscle fiber type through modulating the activity of the muscle regulatory transcription factor MYOD1. Future studies of muscle fiber type development in animal models will continue to enhance our understanding of factors and pathways that may provide therapeutic targets to treat muscle diseases. WIREs Dev Biol 2016, 5:518-534. doi: 10.1002/wdev.230 For further resources related to this article, please visit the WIREs website. PMID:27199166

  8. Angioid Streaks in Types I and II Congenital Dyserythropoietic Anaemia (CDA).

    PubMed

    Frimmel, S; Kniestedt, C

    2016-04-01

    Background. Angioid streaks (AS) are visible irregular breaks in Bruch's membrane, extending radially from the optic nerve head and with overlaying atrophic retinal pigment epithelium. In 50 % of patients, AS are associated with Pseudoxanthoma elasticum, Ehlers-Danlos syndrome, sickle cell anaemia or Paget's disease. In 50 % of patients, AS are idiopathic. Congenital Dyserythropoietic Anaemia (CDA) is a rare, inherited disorder of ineffective erythropoiesis with morphologically abnormal erythroblasts. CDA was first recognised as a separate entity in 1968 and classified into three main groups. CDA demographics have identified 614 known families and > 700 cases worldwide. A few case reports of AS in CDA I and III have been published, but there is no report of AS in CDA II, the most frequent of the CDAs, as well no follow-up. History and Signs. 8 eyes of 4 CDA patients were examined. The CDA I patients were a 46 year old man and a 52 year old woman. They were first seen in 2009 and followed up for 9 and 11 months, respectively. The 2 female CDA II patients were seen in 2010 and were aged 35 and 42 years at first presentation. Vision, Amsler grid, optical coherence tomography (OCT), fundus pictures and fluorescent angiography were performed. Blood was drawn for neutrophil elastase determination (ELA2). Therapy and Outcome. All patients showed bilateral AS. Mean best corrected visual acuity was 20/20 without metamorphopsia and with normal OCT. During the follow-up period, no progression occurred. No choroidal neovascularisation (CNV) was detected. ELA2 serum levels were normal. Conclusions. This is the first report of AS in CDA II and the first follow-up in CDA I. No evidence of progression was seen within this period of time. Longer follow-up is needed to detect whether AS progresses. All patients with AS should be seen by an ophthalmologist on a regular basis. The risk of CNV is given. Therapy is possible and the outcome is best if the CNV is recognised and

  9. Cytomegalovirus Genotype Distribution Among Congenitally and Postnatally Infected Patients: Association of Particular Glycoprotein (g)B and gN Types With Symptomatic Disease

    PubMed Central

    Brañas, Patricia; Blázquez-Gamero, Daniel; Galindo, Alberto; Prieto, Columbiana; Olabarrieta, Iciar; Cuadrado, Irene; Folgueira, Lola

    2015-01-01

    Background. Human cytomegalovirus is a leading cause of congenital infection, and there are limited data on prognosis markers in disease development. We aimed to study 3 virology targets (glycoprotein [g]B, gN, and UL144) to assess their correlation with congenital infection and various organ system involvement. Methods. Forty-eight congenital cases and 58 postnatally infected children were included (2003–2014). Genotyping for the 3 targets and distribution among the cohorts were investigated, and the relationship between the gB, gN, and UL144 types with clinical manifestations in congenital infection was also studied. Results. All of the genotypes were similarly represented among cohorts, and the most prevalent were the UL144B, gB1, and gN1 genotypes. The gB2 genotype was associated with abnormal image findings by ultrasound and/or magnetic resonance in congenital infection (odds ratio [OR], 6.2; 95% confidence interval [CI], 1.1–34.3; P = .036); the gN1 genotype was associated with an elevated risk of developing neurological disorders (OR, 7.0; 95% CI, 1.1–45.9; P = .043). Both gN1 and gB2 were independent factors for symptomatic infection. Statistical analyses showed no association between any UL144 genotype and disease severity. Conclusions. All of the genotypes can be involved in congenital infection, although the gB2 and gN1 genotypes might be associated with a more serious illness. PMID:26613094

  10. Adenovirus type 2 expresses fiber in monkey-human hybrids and reconstructed cells

    SciTech Connect

    Zorn, G.A.; Anderson, C.W.

    1981-02-01

    Adenovirus type 2 protein expression was measured by indirect immunofluorescence in monkey-human hybrids and in cells reconstructed from monkey and human cell karyoplasts and cytoplasts. Monkey-human hybrid clones infected with adenovirus type 2 expressed fiber protein, whereas infected monkey cells alone did not. Hybrids constructed after the parental monkey cells were infected with adenovirus type 2 demonstrated that fiber synthesis in these cells could be rescued by fusion to uninfected human cells. Thus, human cells contain a dominant factor that acts in trans and overcomes the inability of monkey cells to synthesize fiber. These results are consistent with the hypothesis that the block to adenovirus replication in monkey cells involves a nuclear event that prevents the formation of functional mRNA for some late viral proteins including fiber polypeptide.

  11. Fiber type composition of the plantarflexors of giraffes (Giraffa camelopardalis) at different postnatal stages of development.

    PubMed

    Roy, R R; Graham, S; Peterson, J A

    1988-01-01

    1. A sample of fibers from deep (close to the bone) and superficial (away from the bone) regions of the plantaris (PLT) and medial (MG) and lateral (LG) gastrocnemius muscles of a neonatal, a 17-day-old and an adult giraffe were typed qualitatively as dark or light based on alkaline preincubation myosin ATPase staining properties and then sized. 2. Each muscle at all ages showed a higher percentage and a larger cross-sectional area (CSA) or light ATPase fibers in the deep than the superficial region. This relationship was qualitatively, although not quantitatively, similar to that reported in hindlimb muscles of other mammals. 3. At all ages, the PLT, the deepest muscle in the synergistic group, had the highest relative total CSA of light ATPase fibers among the muscles sampled. 4. At birth, the PLT had an unusually high percentage of light ATPase fibers in comparison to that found in the same muscle of other mammals. With age, the total CSA of light ATPase fibers increased dramatically in the PLT and decreased slightly in the MG and LG. 5. These data suggest that the PLT, especially the deep portion, may functionally replace the soleus muscle which is absent in the giraffe. In addition, the fiber type results demonstrate that the changes in the fiber type composition of individual muscles observed at different postnatal ages in the giraffe are relatively similar to that reported in smaller mammals, suggesting the existence of similar regulatory mechanisms.

  12. Tension-type headache as the unique pain experience of a patient with congenital insensitivity to pain.

    PubMed

    Danziger, N; Willer, J-C

    2005-10-01

    Congenital insensitivity to pain (CIP) is a rare clinical syndrome characterized by dramatic impairment of pain perception since birth and is generally caused by a hereditary sensory and autonomic neuropathy (HSAN) with loss of the small-calibre, nociceptive nerve fibres. We report the case of a 32-year-old woman with CIP and a presumptive diagnosis of HSAN type V, who experienced physical pain for the first and unique time in her life shortly after the sudden loss of her brother. This patient had sustained innumerable painless injuries during childhood, including bone fractures and severe burns. The only pain she ever felt consisted in an intense headache, which took place in a context of strong emotional overload and anxiety, 3 weeks after her younger brother died suddenly in a car accident. The description of this inaugural episode of headache fulfilled the diagnostic criteria of episodic tension-type headache. This case strongly suggests that the transcription of the grief of bereavement into physical pain may sometimes occur independently of the peripheral mechanisms of nociception and despite the lack of previous pain experience. In the light of recent experimental data showing that the same neural mechanisms that regulate physical pain may also control the expression of separation distress and the feeling of social exclusion, this unique case helps to better understand why some patients may feel physically hurt after the loss of someone they love. PMID:16154693

  13. Fiber-optic, cantilever-type acoustic motion velocity hydrophone.

    PubMed

    Cranch, G A; Miller, G A; Kirkendall, C K

    2012-07-01

    The interaction between fluid loaded fiber-optic cantilevers and a low frequency acoustic wave is investigated as the basis for an acoustic vector sensor. The displacements of the prototype cantilevers are measured with an integrated fiber laser strain sensor. A theoretical model predicting the frequency dependent shape of acoustically driven planar and cylindrical fiber-optic cantilevers incorporating effects of fluid viscosity is presented. The model demonstrates good agreement with the measured response of two prototype cantilevers, characterized with a vibrating water column, in the regime of Re ≥ 1. The performance of each cantilever geometry is also analyzed. Factors affecting the sensor performance such as fluid viscosity, laser mode profile, and support motion are considered. The planar cantilever is shown to experience the largest acoustically induced force and hence the highest acoustic responsivity. However, the cylindrical cantilever exhibits the smoothest response in water, due to the influence of viscous fluid damping, and is capable of two axis particle velocity measurement. These cantilevers are shown to be capable of achieving acoustic resolutions approaching the lowest sea-state ocean noise. PMID:22779459

  14. Thermally triggered fiber lasers based on secondary-type-In Bragg gratings.

    PubMed

    Feng, Fu-Rong; Ran, Yang; Liang, Yi-Zhi; Gao, Shuai; Feng, Yuan-Hua; Jin, Long; Guan, Bai-Ou

    2016-06-01

    The secondary-type-In grating formed in a small-core photosensitivity active fiber is discovered and investigated. Due to the different grating types, the transmission dip of a secondary grating structure chases and integrates with the type-In grating structure as the temperature increases, which strengthens the reflectivity of the grating. By use of these secondary-type-In gratings as Bragg reflectors, a thermally activated distributed Bragg reflector (DBR) fiber laser is proposed, which can be potentially used in high-temperature alarms and sensors. PMID:27244391

  15. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.

    PubMed

    Kondo, Eri; Nishimura, Takafumi; Kosho, Tomoki; Inaba, Yuji; Mitsuhashi, Satomi; Ishida, Takefumi; Baba, Atsushi; Koike, Kenichi; Nishino, Ichizo; Nonaka, Ikuya; Furukawa, Toru; Saito, Kayoko

    2012-04-01

    Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the presence of distinct rod-like inclusions "nemaline bodies" in the sarcoplasm of skeletal muscle fibers. To date, ACTA1, NEB, TPM3, TPM2, TNNT1, and CFL2 have been found to cause NM. We have identified recessive RYR1 mutations in a patient with severe congenital NM, through high-throughput screening of congenital myopathy/muscular dystrophy-related genes using massively parallel sequencing with target gene capture. The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia. Skeletal muscle histology demonstrated nemaline bodies and small type 1 fibers, but without central cores or minicores. Congenital myopathies, a molecularly, histopathologically, and clinically heterogeneous group of disorders are considered to be a good candidate for massively parallel sequencing. PMID:22407809

  16. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

  17. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-03-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed. PMID:27607320

  18. New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia.

    PubMed

    D'Alcamo, Elena; Agrigento, V; Pitrolo, L; Sclafani, S; Barone, R; Calvaruso, G; Buffa, V; Maggio, A

    2016-06-01

    Congenital dyserythropoietic anemia type I is an autosomal recessive disorder associated with macrocytic anemia, ineffective erythropoiesis, iron overloading and characterized by abnormal chromatin ultrastructure in erythroblasts such as internuclear chromatin bridges, spongy heterochromatin and invagination of the nuclear membrane. A 58-year-old Causasian man with chronic hemolytic anemia, heterozygous for β (+) -globin IVS1, nt110 G>A mutation (causing abnormal alpha:beta globin chain ratio) showed clinical, laboratory and hematological features suggesting diagnosis of CDA1. Sequence analysis of CDA-related genes revealed compound heterozygosity for two novel mutations in the CDAN1 gene: a frameshift mutation 3367 del 4 (TTAG) in exon 25 and a missense mutation c.1811 G>T in exon 11 causing an aminoacid change from glycine to valine at codon 565 (G565V). One of the propositus' brothers showed the same gene mutations. As the CDA1 can mimic thalassemia, a frequent misdiagnosis is possible especially in countries where the prevalence of thalassemia is high. A strong clinical suspicion in patients who do not reveal a clear genetic basis for presumed thalassemia may help clinch the correct diagnosis. PMID:27408412

  19. Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: Evidence for strong linkage disequilibrium

    SciTech Connect

    Toda, Tatsushi; Ikegawa, Shiro; Okui, Keiko; Nakamura, Yusuke; Kanazawa, Ichiro; Kondo, Eri; Saito, Kayoko; Fukuyama, Yukio; Yoshioka, Mieko; Kumagai, Toshiyuki

    1994-11-01

    Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. After our initial mapping of the FCMD locus to chromosome 9q31-33, we further defined the locus within a region of {approximately}5 cM between loci D9S127 and CA246, by homozygosity mapping in patients born to consanguineous marriages and by recombination analyses in other families. We also found evidence for strong linkage disequilibrium between FCMD and a polymorphic microsatellite marker, mfd220, which showed no recombination and a lod score of (Z) 17.49. A {open_quotes}111-bp{close_quotes} allele for the mfd220 was observed in 22 (34%) of 64 FCMD chromosomes, but it was present in only 1 of 120 normal chromosomes. This allelic association with FCMD was highly significant ({chi}{sup 2} = 50.7; P < .0001). Hence, we suspect that the FCMD gene could lie within a few hundred kilobases of the mfd220 locus. 32 refs., 2 figs., 2 tabs.

  20. Molecular differentiation of congenital lactase deficiency from adult-type hypolactasia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A limited fraction of the human adult population retains intestinal lactase-phlorizin hydrolase (LPH) activity during adulthood, and this is called the lactase persistence phenotype. However, 95% of all adults have adult-type hypolactasia (ATH) and have difficulty digesting milk sugar. Rarely, some ...

  1. A rare type of congenital Sturge-Weber Syndrome: presenting with history of perinatal asphyxia.

    PubMed

    Ejike, Obuoha; Odume, Calistus; Ekwochi, Uchenna; Ndu, Ikenna; Imanyikwa, Ugochukwu

    2016-08-01

    The presentation of a newborn with perinatal asphyxia and poor developmental milestones in a resource-poor setting. Many a times, obscured, unsuspected, and uncommon etiologies compound well-known causes of failure to thrive; in this case a rare finding of Type III Sturge-Weber Syndrome was revealed by Brain CT scanning. PMID:27525070

  2. A rare type of congenital Sturge-Weber Syndrome: presenting with history of perinatal asphyxia.

    PubMed

    Ejike, Obuoha; Odume, Calistus; Ekwochi, Uchenna; Ndu, Ikenna; Imanyikwa, Ugochukwu

    2016-08-01

    The presentation of a newborn with perinatal asphyxia and poor developmental milestones in a resource-poor setting. Many a times, obscured, unsuspected, and uncommon etiologies compound well-known causes of failure to thrive; in this case a rare finding of Type III Sturge-Weber Syndrome was revealed by Brain CT scanning.

  3. Type IIa Bragg grating based ultra-short DBR fiber laser with high temperature resistance.

    PubMed

    Ran, Yang; Feng, Fu-Rong; Liang, Yi-Zhi; Jin, Long; Guan, Bai-Ou

    2015-12-15

    We report on the fabrication of a thermally resistant ultra-short distributed Bragg reflector (DBR) fiber laser based on the photo inscription of two wavelength-matched type IIa gratings in a thin-core Er-doped fiber. With continuous UV exposure, each Bragg reflector initially grows as a type I grating, followed by decay in strength, and then re-grows as a type IIa grating with enhanced thermal resistance. The DBR laser, with an entire length of 13 mm, can stably operate at 600°C with single longitude mode, which provides potential applications in high temperature environments. PMID:26670491

  4. Congenital hemangiopericytoma: two case reports.

    PubMed

    Bosch, A M; Hack, W W; Ekkelkamp, S

    1998-03-01

    Congenital hemangiopericytoma is a rare tumor consisting of capillaries surrounded by pericytes. Only histologically can the tumor be distinguished from other vascular hamartomas. For a long time the congenital type was considered benign; however, metastases have recently been described. A histologic diagnosis of all soft-tissue sarcomas should be made. We describe two patients with congenital hemangiopericytomas in whom the diagnosis was not suspected until after histologic examination. Long-term follow-up is indicated.

  5. Congenital Type III von Willebrand's disease unmasked by hypothyroidism in a Shetland sheepdog.

    PubMed

    Scuderi, Margaret; Bessey, Lauren; Snead, Elisabeth; Burgess, Hilary; Carr, Anthony

    2015-09-01

    A 7-year-old, spayed female Shetland sheepdog had sudden onset of right-sided epistaxis. Diagnostic tests revealed Type III von Willebrand's disease and primary hypothyroidism leading to an acute hypothyroid crisis and acquired factor VIII (FVIII) deficiency. Levothyroxine therapy normalized the serum thyroxine and FVIII concentrations. The delayed onset of disease and the reversible FVIII deficiency that was corrected with levothyroxine therapy, support a role for hypothyroidism in the pathogenesis of this dog's sudden bleeding tendency as has been seen with hypothyroidism in humans. PMID:26347307

  6. Congenital Type III von Willebrand's disease unmasked by hypothyroidism in a Shetland sheepdog.

    PubMed

    Scuderi, Margaret; Bessey, Lauren; Snead, Elisabeth; Burgess, Hilary; Carr, Anthony

    2015-09-01

    A 7-year-old, spayed female Shetland sheepdog had sudden onset of right-sided epistaxis. Diagnostic tests revealed Type III von Willebrand's disease and primary hypothyroidism leading to an acute hypothyroid crisis and acquired factor VIII (FVIII) deficiency. Levothyroxine therapy normalized the serum thyroxine and FVIII concentrations. The delayed onset of disease and the reversible FVIII deficiency that was corrected with levothyroxine therapy, support a role for hypothyroidism in the pathogenesis of this dog's sudden bleeding tendency as has been seen with hypothyroidism in humans.

  7. KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3

    PubMed Central

    Chen, Jingchang; Ye, Qingqing; Deng, Daming; Yan, Jianhua; Lin, Houbian; Shen, Tao; Lin, Ying

    2016-01-01

    Congenital fibrosis of the extraocular muscles (CFEOM) is a hereditary ocular disease and can be classified into three subtypes. The aim of the present study was to determine the genetic basis and describe the clinical phenotype of CFEOM type 1 and 3. Two Chinese families with CFEOM type 1 and 3 were identified. The patients and their family members were subjected to comprehensive ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, assessment of palpebral fissure size, levator function, ocular motility, and cover and forced duction tests. Genomic DNA was extracted from the leukocytes of venous blood samples collected from the two families and from 200 unrelated control subjects from the same population. Coding exons of the KIF21A gene were amplified using polymerase chain reaction analysis and sequenced directly in the two probands. The detected mutations were further analyzed in all available family members and the unrelated control subjects. A heterozygous mutation, c.2860C>T (p.R954W), in KIF21A was identified in the two families, and this was cosegregated with the presence of the diseases in the two families, however, it was absent in the 200 normal control subjects. Among the three affected family members with CFEOM1, differences were observed with regard to the presence of aberrant eye movement. The results indicated that, in the patients with CFEOM1 and CFEOM3, the disease was caused by the same KIF21A gene mutation. The KIF21A gene may be a major disease-causing gene for Chinese patients with CFEOM3. Phenotypic heterogeneity was observed in the patients with CFEOM1. PMID:27513105

  8. A New Method for Non-Invasive Estimation of Human Muscle Fiber Type Composition

    PubMed Central

    Baguet, Audrey; Everaert, Inge; Hespel, Peter; Petrovic, Mirko; Achten, Eric; Derave, Wim

    2011-01-01

    Background It has been established that excellence in sports with short and long exercise duration requires a high proportion of fast-twitch (FT) or type-II fibers and slow-twitch (ST) or type-I fibers, respectively. Until today, the muscle biopsy method is still accepted as gold standard to measure muscle fiber type composition. Because of its invasive nature and high sampling variance, it would be useful to develop a non-invasive alternative. Methodology Eighty-three control subjects, 15 talented young track-and-field athletes, 51 elite athletes and 14 ex-athletes volunteered to participate in the current study. The carnosine content of all 163 subjects was measured in the gastrocnemius muscle by proton magnetic resonance spectroscopy (1H-MRS). Muscle biopsies for fiber typing were taken from 12 untrained males. Principal Findings A significant positive correlation was found between muscle carnosine, measured by 1H-MRS, and percentage area occupied by type II fibers. Explosive athletes had ∼30% higher carnosine levels compared to a reference population, whereas it was ∼20% lower than normal in typical endurance athletes. Similar results were found in young talents and ex-athletes. When active elite runners were ranked according to their best running distance, a negative sigmoidal curve was found between logarithm of running distance and muscle carnosine. Conclusions Muscle carnosine content shows a good reflection of the disciplines of elite track-and-field athletes and is able to distinguish between individual track running distances. The differences between endurance and sprint muscle types is also observed in young talents and former athletes, suggesting this characteristic is genetically determined and can be applied in early talent identification. This quick method provides a valid alternative for the muscle biopsy method. In addition, this technique may also contribute to the diagnosis and monitoring of many conditions and diseases that are

  9. Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report

    PubMed Central

    Rahmati, Mohammadbagher; Yazdanparast, Maryam; Jahanshahi, Keramatallah; Zakeri, Mohadese

    2015-01-01

    Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked. Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts with severe wrinkly skin syndrome and leads to more severe diseases related to growth and developmental delays and skeletal anomalies. The clinical manifestations in some of cases of Cutis laxa consist of redundant loose skin, pre-and post-natal growth deficiency, mental retardation, large fontanels, and dislocation of the hips. The authors present the case of a female patient with involved internal organ disorder and delay in growth in addition to skin laxity in which gene sequence analysis of PYCR1 indicated C.797G>A mutation. PMID:26516448

  10. Automated fiber-type-specific cross-sectional area assessment and myonuclei counting in skeletal muscle

    PubMed Central

    Liu, Fujun; Fry, Christopher S.; Mula, Jyothi; Jackson, Janna R.; Lee, Jonah D.; Peterson, Charlotte A.

    2013-01-01

    Skeletal muscle is an exceptionally adaptive tissue that compromises 40% of mammalian body mass. Skeletal muscle functions in locomotion, but also plays important roles in thermogenesis and metabolic homeostasis. Thus characterizing the structural and functional properties of skeletal muscle is important in many facets of biomedical research, ranging from myopathies to rehabilitation sciences to exercise interventions aimed at improving quality of life in the face of chronic disease and aging. In this paper, we focus on automated quantification of three important morphological features of muscle: 1) muscle fiber-type composition; 2) muscle fiber-type-specific cross-sectional area, and 3) myonuclear content and location. We experimentally prove that the proposed automated image analysis approaches for fiber-type-specific assessments and automated myonuclei counting are fast, accurate, and reliable. PMID:24092696

  11. [Preparation of carbon fiber reinforced fluid type resin denture (author's transl)].

    PubMed

    Kasuga, H; Sato, H; Nakabayashi, N

    1980-01-01

    Transverse strength of cured fluid resins is weaker than that of the heat cured. We have studied to improve the mechanical strength of self-cured acrylic resin by application of carbon fibers as reinforcement and simple methods which must be acceptable for technicians are proposed. A cloth type carbon fiber was the best reinforcement among studied carbon fibers such as chopped or mat. The chopped fibers were difficult to mix homogeneously with fluid resins and effectiveness of the reinforcement was low. Breaking often occurred at the interface between the reinforcement and resin in the cases of mat which gave defects to the test specimens. To prepare reinforced denture, the cloth was trimmed on the master cast after removal of wax and the prepreg was formed with the alginate impression on the cast by Palapress and the cloth. Other steps were same as the usual fluid resin. PMID:6929856

  12. [Preparation of carbon fiber reinforced fluid type resin denture (author's transl)].

    PubMed

    Kasuga, H; Sato, H; Nakabayashi, N

    1980-01-01

    Transverse strength of cured fluid resins is weaker than that of the heat cured. We have studied to improve the mechanical strength of self-cured acrylic resin by application of carbon fibers as reinforcement and simple methods which must be acceptable for technicians are proposed. A cloth type carbon fiber was the best reinforcement among studied carbon fibers such as chopped or mat. The chopped fibers were difficult to mix homogeneously with fluid resins and effectiveness of the reinforcement was low. Breaking often occurred at the interface between the reinforcement and resin in the cases of mat which gave defects to the test specimens. To prepare reinforced denture, the cloth was trimmed on the master cast after removal of wax and the prepreg was formed with the alginate impression on the cast by Palapress and the cloth. Other steps were same as the usual fluid resin.

  13. RNA sequencing reveals a slow to fast muscle fiber type transition after olanzapine infusion in rats.

    PubMed

    Lynch, Christopher J; Xu, Yuping; Hajnal, Andras; Salzberg, Anna C; Kawasawa, Yuka Imamura

    2015-01-01

    Second generation antipsychotics (SGAs), like olanzapine, exhibit acute metabolic side effects leading to metabolic inflexibility, hyperglycemia, adiposity and diabetes. Understanding how SGAs affect the skeletal muscle transcriptome could elucidate approaches for mitigating these side effects. Male Sprague-Dawley rats were infused intravenously with vehicle or olanzapine for 24h using a dose leading to a mild hyperglycemia. RNA-Seq was performed on gastrocnemius muscle, followed by alignment of the data with the Rat Genome Assembly 5.0. Olanzapine altered expression of 1347 out of 26407 genes. Genes encoding skeletal muscle fiber-type specific sarcomeric, ion channel, glycolytic, O2- and Ca2+-handling, TCA cycle, vascularization and lipid oxidation proteins and pathways, along with NADH shuttles and LDH isoforms were affected. Bioinformatics analyses indicate that olanzapine decreased the expression of slower and more oxidative fiber type genes (e.g., type 1), while up regulating those for the most glycolytic and least metabolically flexible, fast twitch fiber type, IIb. Protein turnover genes, necessary to bring about transition, were also up regulated. Potential upstream regulators were also identified. Olanzapine appears to be rapidly affecting the muscle transcriptome to bring about a change to a fast-glycolytic fiber type. Such fiber types are more susceptible than slow muscle to atrophy, and such transitions are observed in chronic metabolic diseases. Thus these effects could contribute to the altered body composition and metabolic disease olanzapine causes. A potential interventional strategy is implicated because aerobic exercise, in contrast to resistance exercise, can oppose such slow to fast fiber transitions. PMID:25893406

  14. YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31

    SciTech Connect

    Miyake, Masashi; Nakahori, Yutaka; Matsushita, Ikumi

    1997-03-01

    Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. We had mapped the FCMD gene to an approximately 5-cM interval between D9S127 and D9S2111 on 9q31-q33 and had also found evidence for linkage disequilibrium between FCMD and D9S306 in this candidate region. Through further analysis, we have defined another marker, D9S172, which showed stronger linkage disequilibrium than D9S306. A yeast artificial chromosome (YAC) contig spanning 3.5 Mb, which includes this D9S306-D9S172 interval on 9q31, has been constructed by a combination of sequence-tagged site, Alu-PCR, and restriction mapping. Also, cosmid clones subcloned from the YAC were assembled into three contigs, one of which contains D9S2107, which showed the strongest linkage disequilibrium with FCMD. These contigs also allowed us to order the markers as follows: cen-D9S127-({approximately}800 kb)-D9S306 (identical to D9S53)-({approximately}700 kb)-A107XF9-({approximately}500 kb)-D9S172-({approximately}30 kb)-D9S299 (identical to D9S774)-({approximately}120 kb)-WI2269-tel. Thus, we have constructed the first high-resolution physical map of the FCMD candidate region. The YAC and cosmid contigs established here will be a crucial resource for identification of the FCMD gene and other genes in this region. 37 refs., 7 figs., 2 tabs.

  15. Fiber

    MedlinePlus

    ... broccoli, spinach, and artichokes legumes (split peas, soy, lentils, etc.) almonds Look for the fiber content of ... salsa, taco sauce, and cheese for dinner. Add lentils or whole-grain barley to your favorite soups. ...

  16. Influence of the optical fiber type on the performances of fiber-optics current sensor dedicated to plasma current measurement in ITER.

    PubMed

    Aerssens, Matthieu; Descamps, Frédéric; Gusarov, Andrei; Mégret, Patrice; Moreau, Philippe; Wuilpart, Marc

    2015-07-01

    In this paper, we compare, by means of simulations using the Jones formalism, the performances of several optical fiber types (low birefringence and spun fibers) for the measurement of plasma current in international thermonuclear experimental reactor (ITER). The main results presented in this paper concern the minimum value of the ratio between the beat length and the spun period, which allows meeting the ITER current measurement specifications. Assuming a high-birefringence spun fiber with a beat length of 3 mm, we demonstrate that the minimum ratio between the beat length and the spun period is 4.4 when considering a 28 m long sensing fiber surrounding the vacuum vessel. This minimum ratio rises to 10.14 when a 100 m long lead fiber connecting the interrogating system to the sensing fiber is taken into account.

  17. Influence of the optical fiber type on the performances of fiber-optics current sensor dedicated to plasma current measurement in ITER.

    PubMed

    Aerssens, Matthieu; Descamps, Frédéric; Gusarov, Andrei; Mégret, Patrice; Moreau, Philippe; Wuilpart, Marc

    2015-07-01

    In this paper, we compare, by means of simulations using the Jones formalism, the performances of several optical fiber types (low birefringence and spun fibers) for the measurement of plasma current in international thermonuclear experimental reactor (ITER). The main results presented in this paper concern the minimum value of the ratio between the beat length and the spun period, which allows meeting the ITER current measurement specifications. Assuming a high-birefringence spun fiber with a beat length of 3 mm, we demonstrate that the minimum ratio between the beat length and the spun period is 4.4 when considering a 28 m long sensing fiber surrounding the vacuum vessel. This minimum ratio rises to 10.14 when a 100 m long lead fiber connecting the interrogating system to the sensing fiber is taken into account. PMID:26193142

  18. Congenital syphilis

    MedlinePlus

    Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... Saunders; 2014:chap 143. Duff P. Maternal and fetal infections. In: Creasy RK, Resnik R, Iams JD, ...

  19. Congenital rubella

    MedlinePlus

    ... mother is infected with the virus that causes German measles. Congenital means the condition is present at ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... of Infectious Diseases . 8th ed. Philadelphia, PA: Elsevier ...

  20. Congenital myopathies.

    PubMed

    Romero, Norma Beatriz; Clarke, Nigel F

    2013-01-01

    Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor development are common in most forms. As a result, the diagnosis of a subtype of congenital myopathy is largely based on the presence of specific structural abnormalities in the skeletal muscle detected by enzyme-histochemistry and electron microscopy studies. During the last decades there have been significant advances in the identification of the genetic basis of most congenital myopathies. However, there is significant genetic heterogeneity within the main groups of congenital myopathies, and mutations in one particular gene may also cause diverse clinical and morphological phenotypes. Thus, the nosography and nosology in this field is still evolving. PMID:23622357

  1. [Congenital analgesia].

    PubMed

    Accornero, N; Bini, G; Cruccu, G

    1980-01-01

    The case of a 12 years old boy with a congenital anaesthesia covering all cutaneous and visceral districts is reported. There were no other neurological abnormalities apart a light mental retardation and loss of axon reflex after intradermal injection of hystamine. Notwithstanding this last finding a diagnosis of congenital indifference to pain was made. The differential diagnosis between indifference and insensitivity to pain is discussed. PMID:6162189

  2. Effect of type of fiber, site of fermentation, and method of analysis on digestibility of soluble and insoluble fiber in rabbits.

    PubMed

    Abad-Guamán, R; Carabaño, R; Gómez-Conde, M S; García, J

    2015-06-01

    The effect of type of fiber, site of fermentation, method for quantifying insoluble and soluble dietary fiber, and their correction for intestinal mucin on fiber digestibility were examined in rabbits. Three diets differing in soluble fiber were formulated (8.5% soluble fiber, on DM basis, in the low soluble fiber [LSF] diet; 10.2% in the medium soluble fiber [MSF] diet; and 14.5% in the high soluble fiber [HSF] diet). They were obtained by replacing half of the dehydrated alfalfa in the MSF diet with a mixture of beet and apple pulp (HSF diet) or with a mix of oat hulls and soybean protein (LSF diet). Thirty rabbits with ileal T-cannulas were used to determine ileal and fecal digestibility. Cecal digestibility was determined by difference between fecal and ileal digestibility. Insoluble fiber was measured as NDF, insoluble dietary fiber (IDF), and in vitro insoluble fiber, whereas soluble fiber was calculated as the difference between total dietary fiber (TDF) and NDF (TDF-NDF), IDF (TDF-IDF), and in vitro insoluble fiber (TDF-in vitro insoluble fiber). The intestinal mucin content was used to correct the TDF and soluble fiber digestibility. Ileal and fecal concentration of mucin increased from the LSF to the HSF diet group (P < 0.01). Once corrected for intestinal mucin, ileal and fecal digestibility of TDF and soluble fiber increased whereas cecal digestibility decreased (P < 0.01). Ileal digestibility of TDF increased from the LSF to the HSF diet group (12.0 vs. 28.1%; P < 0.01), with no difference in the cecum (26.4%), resulting in a higher fecal digestibility from the LSF to the HSF diet group (P < 0.01). Ileal digestibility of insoluble fiber increased from the LSF to the HSF diet group (11.3 vs. 21.0%; P < 0.01), with no difference in the cecum (13.9%) and no effect of fiber method, resulting in a higher fecal digestibility for rabbits fed the HSF diet compared with the MSF and LSF diet groups (P < 0.01). Fecal digestibility of NDF was higher compared with

  3. Effect of type of fiber, site of fermentation, and method of analysis on digestibility of soluble and insoluble fiber in rabbits.

    PubMed

    Abad-Guamán, R; Carabaño, R; Gómez-Conde, M S; García, J

    2015-06-01

    The effect of type of fiber, site of fermentation, method for quantifying insoluble and soluble dietary fiber, and their correction for intestinal mucin on fiber digestibility were examined in rabbits. Three diets differing in soluble fiber were formulated (8.5% soluble fiber, on DM basis, in the low soluble fiber [LSF] diet; 10.2% in the medium soluble fiber [MSF] diet; and 14.5% in the high soluble fiber [HSF] diet). They were obtained by replacing half of the dehydrated alfalfa in the MSF diet with a mixture of beet and apple pulp (HSF diet) or with a mix of oat hulls and soybean protein (LSF diet). Thirty rabbits with ileal T-cannulas were used to determine ileal and fecal digestibility. Cecal digestibility was determined by difference between fecal and ileal digestibility. Insoluble fiber was measured as NDF, insoluble dietary fiber (IDF), and in vitro insoluble fiber, whereas soluble fiber was calculated as the difference between total dietary fiber (TDF) and NDF (TDF-NDF), IDF (TDF-IDF), and in vitro insoluble fiber (TDF-in vitro insoluble fiber). The intestinal mucin content was used to correct the TDF and soluble fiber digestibility. Ileal and fecal concentration of mucin increased from the LSF to the HSF diet group (P < 0.01). Once corrected for intestinal mucin, ileal and fecal digestibility of TDF and soluble fiber increased whereas cecal digestibility decreased (P < 0.01). Ileal digestibility of TDF increased from the LSF to the HSF diet group (12.0 vs. 28.1%; P < 0.01), with no difference in the cecum (26.4%), resulting in a higher fecal digestibility from the LSF to the HSF diet group (P < 0.01). Ileal digestibility of insoluble fiber increased from the LSF to the HSF diet group (11.3 vs. 21.0%; P < 0.01), with no difference in the cecum (13.9%) and no effect of fiber method, resulting in a higher fecal digestibility for rabbits fed the HSF diet compared with the MSF and LSF diet groups (P < 0.01). Fecal digestibility of NDF was higher compared with

  4. Cells that emerge from embryonic explants produce fibers of type IV collagen.

    PubMed

    Chen, J M; Little, C D

    1985-10-01

    Double immunofluorescence staining experiments designed to examine the synthesis and deposition of collagen types I and IV in cultured explants of embryonic mouse lung revealed the presence of connective tissue-like fibers that were immunoreactive with anti-type IV collagen antibodies. This observation is contrary to the widely accepted belief that type IV collagen is found only in sheet-like arrangements beneath epithelia or as a sheath-like layer enveloping bundles of nerve or muscle cells. The extracellular matrix produced by cells that migrate from embryonic mouse lung rudiments in vitro was examined by double indirect immunofluorescence microscopy. Affinity-purified monospecific polyclonal antibodies were used to examine cells after growth on glass or native collagen substrata. The data show that embryonic mesenchymal cells can produce organized fibers of type IV collagen that are not contained within a basement membrane, and that embryonic epithelial cells deposit fibers and strands of type IV collagen beneath their basal surface when grown on glass; however, when grown on a rat tail collagen substratum the epithelial cells produce a fine meshwork. To our knowledge this work represents the first report that type IV collagen can be organized by cells into a fibrous extracellular matrix that is not a basement membrane.

  5. Nonlinear optical properties of type I collagen fibers studied by polarization dependent second harmonic generation microscopy.

    PubMed

    Tuer, Adam E; Krouglov, Serguei; Prent, Nicole; Cisek, Richard; Sandkuijl, Daaf; Yasufuku, Kazuhiro; Wilson, Brian C; Barzda, Virginijus

    2011-11-10

    Collagen (type I) fibers are readily visualized with second harmonic generation (SHG) microscopy though the molecular origin of the signal has not yet been elucidated. In this study, the molecular origin of SHG from type I collagen is investigated using the time-dependent coupled perturbed Hartree-Fock calculations of the hyperpolarizibilities of glycine, proline, and hydroxyproline. Two effective nonlinear dipoles are found to orient in-the-plane of the amino acids, with one of the dipoles aligning close to the pitch orientation in the triple-helix, which provides the dominant contribution to the SHG polarization properties. The calculated hyperpolarizability tensor element ratios for the collagen triple-helix models: [(Gly3)n]3, [(Gly-Pro2)n]3, and [(Gly-Pro-Hyp)n]3, are used to predict the second-order nonlinear susceptibility ratios, χ(zzz)(2)/χ(iiz)(2) and χ(zii)(2)/χ(iiz)(2) of collagen fibers. From SHG microscopy polarization in, polarization out (PIPO) measurements of type I collagen in human lung tissue, a theoretical method is used to extract the triple-helix orientation angle with respect to the collagen fiber. The study shows the dominant role of amino acid orientation in the triple-helix for determining the polarization properties of SHG and provides a method for determining the triple-helix orientation angle in the collagen fibers. PMID:21970315

  6. High power mode-locked rod-type fiber femtosecond laser with micro-joule energy

    NASA Astrophysics Data System (ADS)

    Lv, Zhiguo; Teng, Hao; Wang, Lina; Wang, Rui; Wang, Junli; Wei, Zhiyi

    2016-07-01

    We report a high power all-normal-dispersion (ANDi) mode-locked laser based on nonlinear polarization evolution (NPE) technique using rod-type fiber with polarization maintaining (PM) characteristic. With 85 μm gain core diameter, 31 W of average power at repetition rates of 57.93 MHz, which corresponds to the pulse energy of 0.53 μJ, is demonstrated under a pump power of 93 W. The pulse duration of 124 fs after compressor is obtained at the central wavelength of 1033 nm as well as the measured power jitter of 0.3% over a period of 2 h. To our knowledge, this is the first realization of the highest power of ANDi fiber laser by pure NPE mode-locking technique based on fibers with PM characteristic as gain media.

  7. Fiber size, type, and myosin heavy chain content in rhesus hindlimb muscles after 2 weeks at 2 G

    NASA Technical Reports Server (NTRS)

    Tavakol, Morteza; Roy, Roland R.; Kim, Jung A.; Zhong, Hui; Hodgson, John A.; Hoban-Higgins, Tana M.; Fuller, Charles A.; Edgerton, V. Reggie

    2002-01-01

    BACKGROUND: Fiber atrophy and an increase in the percentage of fast fibers have been observed in Rhesus leg muscles after spaceflight. Hypothesis: Hypergravity will result in muscle fiber hypertrophy and an increase in the percentage of slow fibers. METHODS: Open muscle biopsies were obtained from Rhesus soleus, medial gastrocnemius (MG), and tibialis anterior (TA) muscles before and after 14 d of centrifugation (2 G) and in time-matched controls. Cage activity levels were measured by telemetry. RESULTS: Based on monoclonal antibody binding for myosin heavy chains (MHC), the fastest region of soleus contained a higher proportion of type I+II (27 vs. 13%) and had a tendency for a lower proportion of type I (38 vs. 61%, p = 0.10) fibers after than before centrifugation. There was a higher proportion of type I+II fibers in post- vs. pre-2 G (10 vs. 0.6%) MG biopsies. Fiber type distribution and MHC composition were unaffected in the TA. Overall, mean fiber sizes were unaffected by centrifugation. Average cage activity levels were 36% lower during than before 2 G. CONCLUSIONS: Our hypothesis was rejected. The changes in the proportion of fibers expressing type I MHC are the reverse of that expected with chronic loading of extensors and, paradoxically, are similar to changes observed with chronic unloading, such as occurs during spaceflight, in this primate model. The data are consistent with the observed decrease in total daily activity levels.

  8. Synaptic Transfer from Outer Hair Cells to Type II Afferent Fibers in the Rat Cochlea

    PubMed Central

    Weisz, Catherine J.C.; Lehar, Mohamed; Hiel, Hakim; Glowatzki, Elisabeth; Fuchs, Paul Albert

    2012-01-01

    Type II cochlear afferents receive glutamatergic synaptic excitation from outer hair cells (OHCs) in the rat cochlea. However, it remains uncertain whether this connection is capable of providing auditory information to the brain. The functional efficacy of this connection depends in part on the number of presynaptic OHCs, their probability of transmitter release, and the effective electrical distance for spatial summation in the Type II fiber. The present work addresses these questions using whole-cell recordings from the spiral process of type II afferents that run below OHCs in the apical turn of young (5–9 days postnatal) rat cochlea. A ‘high potassium puffer’ was used to elicit calcium action potentials from individual OHCs and thereby show that the average probability of transmitter release was 0.26 (range 0.02 to 0.73). Electron microscopy showed relatively few vesicles tethered to ribbons in equivalent OHCs. A ‘receptive field’ map for individual type II fibers was constructed by successively puffing onto OHCs along the cochlear spiral, up to 180 µm from the recording pipette. These revealed a conservative estimate of 7 presynaptic OHCs per type II fiber (range 1–11). EPSCs evoked from presynaptic OHCs separated by more than 100 µm did not differ in amplitude or waveform, implying that the type II fiber’s length constant exceeded the length of the synaptic input zone. Taken together these data suggest that type II fibers could communicate centrally by maximal activation of their entire pool of presynaptic OHCs. PMID:22787038

  9. Numerical Model for particle deposition and loading in electret filter with rectangular split-type fibers

    NASA Astrophysics Data System (ADS)

    Cheung, C. S.; Cao, Y. H.; Yan, Z. D.

    2005-05-01

    A simulation model for electret filter made of split type fibers has been developed to study the filtration efficiency as well as the particle loading process. The filter was assumed to be composed of rectangular fibers arranged in staggered array in which the flow field, the electrostatic field and the collection mechanisms were determined by numerical simulation. Single fiber efficiencies under various filtration conditions were calculated and compared with results obtained from semi-empirical expressions derived from experimental results. Influences of particle charge, fiber charge and orientation of fiber on the collection efficiency were evaluated. Finally the particle loading process was studied using the present model. Dendrite growth of particles in equilibrium charge state was simulated. The mechanical efficiency compensation effect was studied by a series of simulations. It is found that the loading of 1.5 μm or larger particles has a significant mechanical collection compensation to the loss in electrostatic efficiency; while for 0.4 μm particles such compensation is slow and insignificant.

  10. High Intensity Training May Reverse the Fiber Type Specific Decline in Myogenic Stem Cells in Multiple Sclerosis Patients

    PubMed Central

    Farup, Jean; Dalgas, Ulrik; Keytsman, Charly; Eijnde, Bert O.; Wens, Inez

    2016-01-01

    Multiple sclerosis (MS) is associated with loss of skeletal muscle mass and function. The myogenic stem cells (satellite cells—SCs) are instrumental to accretion of myonuclei, but remain to be investigated in MS. The present study aimed to compare the SC and myonuclei content between MS patients (n = 23) and age matched healthy controls (HC, n = 18). Furthermore, the effects of 12 weeks of high intensity training on SC and myonuclei content were explored in MS. Muscle biopsies were obtained from m. Vastus Lateralis at baseline (MS and HC) and following 12 weeks of training (MS only). Frozen biopsies were sectioned followed by immunohistochemical analysis for fiber type specific SCs (Pax7+), myonuclei (MN) and central nuclei content and fiber cross-sectional area (fCSA) was quantified using ATPase histochemistry. At baseline the SCs per fiber was lower in type II compared to type I fibers in both MS (119%, p < 0.01) and HC (69%, p < 0.05), whereas the SCs per fCSA was lower in type II fibers compared to type I only in MS (72%, p < 0.05). No differences were observed in MN or central nuclei between MS and HC. Following training the type II fiber SCs per fiber and per fCSA in MS patients increased by 165% (p < 0.05) and 135% (p < 0.05), respectively. Furthermore, the type II fiber MN content tended (p = 0.06) to be increased by 35% following training. In conclusion, the SC content is lower in type II compared to type I fibers in both MS and HC. Furthermore, high intensity training was observed to selectively increase the SC and myonuclei content in type II fibers in MS patients. PMID:27303309

  11. Congenital Vascular Anomalies.

    PubMed

    Gravereaux, Edwin C.; Nguyen, Louis L.; Cunningham, Leslie D.

    2004-04-01

    Congenital vascular anomalies are rare. The cardiovascular specialist should nevertheless be aware of the more common types of vascular anomalies and understand the implications for patient treatment and the likelihood of associated morbidity. The presentation of congenital arteriovenous malformations can range from asymptomatic or cosmetic lesions, to those causing ischemia, ulceration, hemorrhage, or high-output congestive heart failure. Treatment of large, symptomatic arteriovenous malformations often requires catheter-directed embolization prior to the attempt at complete surgical excision. Later recurrence, due to collateral recruitment, is frequent. Graded compression stockings and leg elevation are the mainstays of treatment for the predominantly venous congenital vascular anomalies. Most congenital central venous disorders are clinically silent. An exception is the retrocaval ureter. Retroaortic left renal vein, circumaortic venous ring, and absent, left-sided or duplicated inferior vena cava are relevant when aortic or inferior vena cava procedures are planned. The treatment of the venous disorders is directed at prevention or management of symptoms. Persistent sciatic artery, popliteal entrapment syndrome, and aberrant right subclavian artery origin are congenital anomalies that are typically symptomatic at presentation. Because they mimic more common diseases, diagnosis is frequently delayed. Delay can result in significant morbidity for the patient. Failure to make the diagnosis of persistent sciatic artery and popliteal entrapment can result in critical limb ischemia and subsequent amputation. Unrecognized aberrant right subclavian artery origin associated with aneurysmal degeneration can rupture and result in death. The treatment options for large-vessel arterial anomalies are surgical, sometimes in combination with endovascular techniques.

  12. Pulmonary Kirsten Rat Sarcoma Virus Mutation Positive Mucinous Adenocarcinoma Arising in a Congenital Pulmonary Airway Malformation, Mixed Type 1 and 2.

    PubMed

    Singh, Gopal; Coffey, Amy; Neely, Robert; Lambert, Daniel; Sonett, Joshua; Borczuk, Alain C; Gorenstein, Lyall

    2016-10-01

    Congenital pulmonary airway malformation (CPAM) is a developmental abnormality of the lung, which results from an abnormality of branching during fetal development of the lung. We report the case of an 18 year-old woman who developed Kirsten rat sarcoma virus (KRAS) mutation positive mucinous adenocarcinoma of the lung (AC) in association with mixed CPAM type 1 and 2. This case is unique as KRAS mutation positive AC is present in a setting of both CPAM 1 and 2 in the same lesion. PMID:27645976

  13. Unexpected dependence of RyR1 splice variant expression in human lower limb muscles on fiber-type composition.

    PubMed

    Willemse, Hermia; Theodoratos, Angelo; Smith, Paul N; Dulhunty, Angela F

    2016-02-01

    The skeletal muscle ryanodine receptor Ca(2+) release channel (RyR1), essential for excitation-contraction (EC) coupling, demonstrates a known developmentally regulated alternative splicing in the ASI region. We now find unexpectedly that the expression of the splice variants is closely related to fiber type in adult human lower limb muscles. We examined the distribution of myosin heavy chain isoforms and ASI splice variants in gluteus minimus, gluteus medius and vastus medialis from patients aged 45 to 85 years. There was a strong positive correlation between ASI(+)RyR1 and the percentage of type 2 fibers in the muscles (r = 0.725), and a correspondingly strong negative correlation between the percentages of ASI(+)RyR1 and percentage of type 1 fibers. When the type 2 fiber data were separated into type 2X and type 2A, the correlation with ASI(+)RyR1 was stronger in type 2X fibers (r = 0.781) than in type 2A fibers (r = 0.461). There was no significant correlation between age and either fiber-type composition or ASI(+)RyR1/ASI(-)RyR1 ratio. The results suggest that the reduced expression of ASI(-)RyR1 during development may reflect a reduction in type 1 fibers during development. Preferential expression of ASI(-) RyR1, having a higher gain of in Ca(2+) release during EC coupling than ASI(+)RyR1, may compensate for the reduced terminal cisternae volume, fewer junctional contacts and reduced charge movement in type 1 fibers.

  14. Dietary fiber intake and risk of type 2 diabetes: a dose-response analysis of prospective studies.

    PubMed

    Yao, Baodong; Fang, Hong; Xu, Wanghong; Yan, Yujie; Xu, Huilin; Liu, Yinan; Mo, Miao; Zhang, Hua; Zhao, Yanping

    2014-02-01

    Observational studies suggest an association between dietary fiber intake and risk of type 2 diabetes, but the results are inconclusive. We conducted a meta-analysis of prospective studies evaluating the associations of dietary fiber intake and risk of type 2 diabetes. Relevant studies were identified by searching EMBASE (from 1974 to April 2013) and PubMed (from 1966 to April 2013). The fixed or random-effect model was selected based on the homogeneity test among studies. In addition, a 2-stage random-effects dose-response meta-analysis was performed. We identified 17 prospective cohort studies of dietary fiber intake and risk of type 2 diabetes involving 19,033 cases and 488,293 participants. The combined RR (95 % CI) of type 2 diabetes for intake of total dietary fiber, cereal fiber, fruit fiber and insoluble fiber was 0.81 (0.73-0.90), 0.77 (0.69-0.85), 0.94 (0.88-0.99) and 0.75 (0.63-0.89), respectively. A nonlinear relationship was found of total dietary fiber intake with risk of type 2 diabetes (P for nonlinearity < 0.01), and the RRs (95 % CI) of type 2 diabetes were 0.98 (0.90-1.06), 0.97 (0.87-1.07), 0.89 (0.80-0.99), 0.76 (0.65-0.88), and 0.66 (0.53-0.82) for 15, 20, 25, 30, and 35 g/day. The departure from nonlinear relationship was not significant (P for nonlinearity = 0.72), and the risk of type 2 diabetes decreased by 6 % (RR 0.94, 95 % CI 0.93-0.96) for 2 g/day increment in cereal fiber intake. Findings from this meta-analysis indicate that the intakes of dietary fiber may be inversely associated with risk of type 2 diabetes.

  15. Fiber type and metabolic characteristics of lion (Panthera leo), caracal (Caracal caracal) and human skeletal muscle.

    PubMed

    Kohn, Tertius Abraham; Burroughs, Richard; Hartman, Marthinus Jacobus; Noakes, Timothy David

    2011-06-01

    Lion (Panthera leo) and caracal (Caracal caracal) skeletal muscle samples from Vastus lateralis, Longissimus dorsi and Gluteus medius were analyzed for fiber type and citrate synthase (CS; EC 2.3.3.1), 3-hydroxyacyl Co A dehydrogenase (3HAD; EC 1.1.1.35), phosphofructokinase-1 (PFK; EC 2.7.1.11), creatine kinase (CK; EC 2.7.3.2), phosphorylase (PHOS; EC 2.4.1.1) and lactate dehydrogenase (LDH; EC 1.1.1.27) activities and compared to human runners, the latter also serving as validation of methodology. Both felids had predominantly type IIx fibers (range 50-80%), whereas human muscle had more types I and IIa. Oxidative capacity of both felids (CS: 5-9 μmol/min/g ww and 3HAD: 1.4-2.6 μmol/min/g ww) was lower than humans, whereas the glycolytic capacity was elevated. LDH activity of caracal (346 ± 81) was higher than lion (227 ± 62 μmol/min/g ww), with human being the lowest (55 ± 17). CK and PHOS activities were also higher in caracal and lion compared to human, but PFK was lower in both felid species. The current data and past research are illustrated graphically showing a strong relationship between type II fibers and sprinting ability in various species. These data on caracal and lion muscles confirm their sprinting behavior.

  16. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

    Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening.

  17. Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated

    PubMed Central

    Noy-Lotan, Sharon; Dgany, Orly; Lahmi, Roxane; Marcoux, Nathaly; Krasnov, Tanya; Yissachar, Nissan; Ginsberg, Doron; Motro, Benny; Resnitzky, Peretz; Yaniv, Isaac; Kupfer, Gary M.; Tamary, Hannah

    2009-01-01

    Background Congenital dyserythropoietic anemia type I is an inherited autosomal recessive macrocytic anemia associated with ineffective erythropoiesis and the development of secondary hemochromatosis. Distinct erythroid precursors with internuclear chromatin bridges and spongy heterochromatin are pathognomonic for the disease. The mutated gene (CDAN1) encodes a ubiquitously expressed protein of unknown function, codanin-1. Based on the morphological features of congenital dyserythropoietic anemia type I erythroblasts and data on a role in cell cycle progression of codanin-1 homolog in Drosophila we investigated the cellular localization and possible involvement of codanin-1 during the cell cycle. Design and Methods Codanin-1 localization was studied by immunofluorescence and immune electron microscopy. Cell cycle expression of codanin-1 was evaluated using synchronized HeLa cells. E2F proteins are the main regulator of G1/S transition. An E2F1-inducible cell line (U20S-ER-E2F1) enabled us to study codanin-1 expression following ectopic E2F1 induction. Direct binding of E2F1 to codanin-1 promoter was assessed by chromatin immunoprecipitation. We used a luciferase-reporter plasmid to study activation of CDAN1 transcription by E2F1. Results We localized codanin-1 to heterochromatin in interphase cells. During the cell cycle, high levels of codanin-1 were observed in the S phase. At mitosis, codanin-1 underwent phosphorylation, which coincided with its exclusion from condensed chromosomes. The proximal CDAN1 gene promoter region, containing five putative E2F binding sites, was found to be a direct target of E2F1. Conclusions Taken together, these data suggest that codanin-1 is a cell cycle-regulated protein active in the S phase. The exact role of codanin-1 during the S phase remains to be determined. Nevertheless this represents the first step towards understanding the function of the proteins involved in congenital dyserythropoietic anemia. PMID:19336738

  18. Chronic inhalation studies of two types of stone wool fibers in rats.

    PubMed

    Kamstrup, O; Ellehauge, A; Chevalier, J; Davis, J M; McConnell, E E; Thévenaz, P

    2001-07-01

    A summary is given of the pathology results after long-term inhalation in rats of insulation wool representing the new biosoluble types. The pathology results are compared with previously conducted long-term inhalation study with MMVF21 (traditional stone wool). The biosoluble fiber MMVF34/HT (HT) is characterized by a relatively high content of aluminum and a relatively low content of silica compared to the older MMVF21. HT has a high in vitro dissolution rate at pH 4.5, and a relatively low dissolution rate at pH 7.5. Male Fischer 344 rats were exposed at one exposure level of 30 mg/m(3) by nose-only inhalation of a well-characterized fiber test atmosphere. The fibers had been size selected to be largely rat respirable. The negative control group was exposed to filtered air. The exposure duration was 6 h/day, 5 days/wk for 104 wk, with a subsequent nonexposure period lasting until approximately 20% survival in the air control group. Interim sacrifices were performed at wk 13, 26, 52, 78, and 104 to monitor the progression of pulmonary change and fiber numbers. Effectively the main protocol for the previously conducted chronic study with MMVF21 was the same, except that there were three concentration levels (3, 16, and 30 mg/m(3)). In addition to the endpoints measured in the previous study, slides from both studies were evaluated for collagen deposition using a quantitative morphometric method. The results of the comparative study clearly showed a marked difference in the pulmonary pathogenicity of the MMVF21 and HT in terms of their fibrogenic potential. MMVF21 caused pulmonary fibrosis, but the HT fiber did not. The incidence of tumors for both the HT and the MMVF21 fiber was comparable to the control groups. PMID:11452357

  19. Fiber-Type Random Laser Based on a Cylindrical Waveguide with a Disordered Cladding Layer

    PubMed Central

    Zhang, Wei Li; Zheng, Meng Ya; Ma, Rui; Gong, Chao Yang; Yang, Zhao Ji; Peng, Gang Ding; Rao, Yun Jiang

    2016-01-01

    This letter reports a fiber-type random laser (RL) which is made from a capillary coated with a disordered layer at its internal surface and filled with a gain (laser dye) solution in the core region. This fiber-type optical structure, with the disordered layer providing randomly scattered light into the gain region and the cylindrical waveguide providing confinement of light, assists the formation of random lasing modes and enables a flexible and efficient way of making random lasers. We found that the RL is sensitive to laser dye concentration in the core region and there exists a fine exponential relationship between the lasing intensity and particle concentration in the gain solution. The proposed structure could be a fine platform of realizing random lasing and random lasing based sensing. PMID:27220636

  20. Nitrate Intake Promotes Shift in Muscle Fiber Type Composition during Sprint Interval Training in Hypoxia

    PubMed Central

    De Smet, Stefan; Van Thienen, Ruud; Deldicque, Louise; James, Ruth; Sale, Craig; Bishop, David J.; Hespel, Peter

    2016-01-01

    Purpose: We investigated the effect of sprint interval training (SIT) in normoxia, vs. SIT in hypoxia alone or in conjunction with oral nitrate intake, on buffering capacity of homogenized muscle (βhm) and fiber type distribution, as well as on sprint and endurance performance. Methods: Twenty-seven moderately-trained participants were allocated to one of three experimental groups: SIT in normoxia (20.9% FiO2) + placebo (N), SIT in hypoxia (15% FiO2) + placebo (H), or SIT in hypoxia + nitrate supplementation (HN). All participated in 5 weeks of SIT on a cycle ergometer (30-s sprints interspersed by 4.5 min recovery-intervals, 3 weekly sessions, 4–6 sprints per session). Nitrate (6.45 mmol NaNO3) or placebo capsules were administered 3 h before each session. Before and after SIT participants performed an incremental VO2max-test, a 30-min simulated cycling time-trial, as well as a 30-s cycling sprint test. Muscle biopsies were taken from m. vastus lateralis. Results: SIT decreased the proportion of type IIx muscle fibers in all groups (P < 0.05). The relative number of type IIa fibers increased (P < 0.05) in HN (P < 0.05 vs. H), but not in the other groups. SIT had no significant effect on βhm. Compared with H, SIT tended to enhance 30-s sprint performance more in HN than in H (P = 0.085). VO2max and 30-min time-trial performance increased in all groups to a similar extent. Conclusion: SIT in hypoxia combined with nitrate supplementation increases the proportion of type IIa fibers in muscle, which may be associated with enhanced performance in short maximal exercise. Compared with normoxic training, hypoxic SIT does not alter βhm or endurance and sprinting exercise performance. PMID:27378942

  1. Tensile Behavior of As-Fabricated and Burner-Rig Exposed SiC/SiC Composites with Hi-Nicalon Type-S Fibers

    NASA Technical Reports Server (NTRS)

    Yun, H. M.; Dicarlo, J. A.; Ogbuji, L. T.; Chen, Y. L.

    2002-01-01

    Tensile stress-strain curves were measured at room temperature and 1315 C for 2D-woven SiC/BN/SiC ceramic matrix composites (CMC) reinforced by two variations of Hi-Nicalon Type-S SiC fibers. These fibers, which contained a thin continuous carbon-rich layer on their as-produced surface, provided the as-fabricated CMC with good composite behavior and an ultimate strength and strain of -350 MPa and -0.5%, respectively. However, after un-stressed burner-rig exposure at 815 C for -100 hrs, CMC tensile specimens with cut edges and exposed interphases showed a significant decrease in ultimate properties with effectively no composite behavior. Microstructural observations show that the degradation was caused by internal fiber-fiber oxide bonding after removal of the carbon-rich fiber surface layer by the high-velocity combustion gases. On the other hand, SiC/BN/SiC CMC with Sylramic-iBN fibers without carbon-rich surfaces showed higher as-fabricated strength and no loss in strength after the same burner rig exposure. Based on the strong role of the carbon layer in these observations, a process method was developed and demonstrated for achieving better strength retention of Hi-Nicalon Type-S CMC during burner rig exposure. Other general approaches for minimizing this current deficiency with as-produced Type-S fibers are discussed.

  2. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  3. Congenital amusias.

    PubMed

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." PMID:25726292

  4. Nuclear receptor/microRNA circuitry links muscle fiber type to energy metabolism.

    PubMed

    Gan, Zhenji; Rumsey, John; Hazen, Bethany C; Lai, Ling; Leone, Teresa C; Vega, Rick B; Xie, Hui; Conley, Kevin E; Auwerx, Johan; Smith, Steven R; Olson, Eric N; Kralli, Anastasia; Kelly, Daniel P

    2013-06-01

    The mechanisms involved in the coordinate regulation of the metabolic and structural programs controlling muscle fitness and endurance are unknown. Recently, the nuclear receptor PPARβ/δ was shown to activate muscle endurance programs in transgenic mice. In contrast, muscle-specific transgenic overexpression of the related nuclear receptor, PPARα, results in reduced capacity for endurance exercise. We took advantage of the divergent actions of PPARβ/δ and PPARα to explore the downstream regulatory circuitry that orchestrates the programs linking muscle fiber type with energy metabolism. Our results indicate that, in addition to the well-established role in transcriptional control of muscle metabolic genes, PPARβ/δ and PPARα participate in programs that exert opposing actions upon the type I fiber program through a distinct muscle microRNA (miRNA) network, dependent on the actions of another nuclear receptor, estrogen-related receptor γ (ERRγ). Gain-of-function and loss-of-function strategies in mice, together with assessment of muscle biopsies from humans, demonstrated that type I muscle fiber proportion is increased via the stimulatory actions of ERRγ on the expression of miR-499 and miR-208b. This nuclear receptor/miRNA regulatory circuit shows promise for the identification of therapeutic targets aimed at maintaining muscle fitness in a variety of chronic disease states, such as obesity, skeletal myopathies, and heart failure.

  5. [Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions].

    PubMed

    Robaszkiewicz, Katarzyna; Moraczewska, Joanna

    2011-01-01

    Congenital myopathies are clinically and genetically heterogeneous disorders characterized by muscle structural abnormalities, muscle weakness and deformities. The clinical spectrum of the disease ranges from severe cases with early death to adult-onset cases with slow progression. In the skeletal muscle fibers, the specific structural changes are rod-shaped structures present in the sarcoplasm (nemaline myopathy – NM) or nuclei (intranuclear rod myopathy – IRM), cap-like structures peripherally located within muscle fibers (cap disease – CD), accumulations of actin filaments (actin myopathy – AM), changes in the fiber type proportion and size (congenital fiber type disproportion – CFTD), irregularity of Z-lines and abnormal localization of myofiber nuclei. Mutations in several genes encoding muscle proteins have been linked to congenital myopathy. These genes include a-skeletal actin (ACTA1), tropomyosin (TPM2 and TPM3), troponin (TNNT1) and nebulin (NEB). In vitro and in vivo studies show that mutations identified within these genes have varying impacts on thin filament protein structure, which affect polymerization and stabilization of actin filament, actin cellular localization and regulation of actin-myosin activity. Many lines of evidence suggest that mutated proteins have "toxic" effects. Unfortunately, there is no existing simple correlation between the degree of protein disruption, muscle pathologies and disease severity. PMID:21677359

  6. Pulse compression of a high-power thin disk laser using rod-type fiber amplifiers.

    PubMed

    Saraceno, C J; Heckl, O H; Baer, C R E; Südmeyer, T; Keller, U

    2011-01-17

    We report on two pulse compressors for a high-power thin disk laser oscillator using rod-type fiber amplifiers. Both systems are seeded by a standard SESAM modelocked thin disk laser that delivers 16 W of average power at a repetition rate of 10.6 MHz with a pulse energy of 1.5 μJ and a pulse duration of 1 ps. We discuss two results with different fiber parameters with different trade-offs in pulse duration, average power, damage and complexity. The first amplifier setup consists of a Yb-doped fiber amplifier with a 2200 μm2 core area and a length of 55 cm, resulting in a compressed average power of 55 W with 98-fs pulses at a repetition rate of 10.6 MHz. The second system uses a shorter 36-cm fiber with a larger core area of 4500 μm2. In a stretcher-free configuration we obtained 34 W of compressed average power and 65-fs pulses. In both cases peak powers of > 30 MW were demonstrated at several μJ pulse energies. The power scaling limitations due to damage and self-focusing are discussed.

  7. Coordinated expression of myosin heavy chains, metabolic enzymes, and morphological features of porcine skeletal muscle fiber types.

    PubMed

    Quiroz-Rothe, Eugenio; Rivero, José-Luis L

    2004-09-01

    Combined methodologies of electrophoresis, immunoblots, immunohistochemistry, histochemistry, and photometric image analysis were applied to characterize porcine skeletal muscle fibers according to their myosin heavy chain (MyHC) composition, and to determine on a fiber-to-fiber basis the correlation between contractile [MyHC (s), myofibrillar ATPase (mATPase), and sarco(endo)plasmic reticulum Ca(2+)-ATPase (SERCA) isoforms], metabolic [succinate dehydrogenase (SDH), and glycerol-3-phosphate dehydrogenase (GPDH) activities, glycogen, and phospholamban (PLB) contents], and morphological [cross-sectional area (CSA), capillary, and nuclear densities] features of individual myofibers. An accurate delineation of MyHC-based fiber types was obtained with the immunohistochemical method developed. This protocol showed a high sensitivity and objectivity to delineate hybrid fibers with overwhelming dominance of one MyHC isoform. The phenotypic differences in contractile, metabolic, and morphological properties seen between fiber types were related with MyHC content. Slow fibers had the lowest mATPase activity (related to shortening velocity), the highest SDH activity (oxidative capacity), the lowest GPDH activity (glycolytic metabolism), and glycogen content, the smallest CSA, the greatest capillary, and nuclear densities, and expressed slow SERCA isoform and PLB, but not the fast SERCA isoform. The reverse pattern was true for pure IIB fibers, whereas type IIA and IIX fibers had intermediate properties. Hybrid fibers had mean values intermediate in-between their respective pure phenotypes. Discrimination of myofibers according to their MyHC content was possible on the basis of their contractile and non-contractile profiles. These intrafiber interrelationships suggest that myofibers of control pigs exhibit a high degree of co-ordination in their physiological, biochemical, and anatomical features. This study may well be a useful baseline for future work on the pig meat

  8. Fourier transform infrared imaging and infrared fiber optic probe spectroscopy identify collagen type in connective tissues.

    PubMed

    Hanifi, Arash; McCarthy, Helen; Roberts, Sally; Pleshko, Nancy

    2013-01-01

    Hyaline cartilage and mechanically inferior fibrocartilage consisting of mixed collagen types are frequently found together in repairing articular cartilage. The present study seeks to develop methodology to identify collagen type and other tissue components using Fourier transform infrared (FTIR) spectral evaluation of matrix composition in combination with multivariate analyses. FTIR spectra of the primary molecular components of repair cartilage, types I and II collagen, and aggrecan, were used to develop multivariate spectral models for discrimination of the matrix components of the tissues of interest. Infrared imaging data were collected from bovine bone, tendon, normal cartilage, meniscus and human repair cartilage tissues, and composition predicted using partial least squares analyses. Histology and immunohistochemistry results were used as standards for validation. Infrared fiber optic probe spectral data were also obtained from meniscus (a tissue with mixed collagen types) to evaluate the potential of this method for identification of collagen type in a minimally-invasive clinical application. Concentration profiles of the tissue components obtained from multivariate analysis were in excellent agreement with histology and immunohistochemistry results. Bone and tendon showed a uniform distribution of predominantly type I collagen through the tissue. Normal cartilage showed a distribution of type II collagen and proteoglycan similar to the known composition, while in repair cartilage, the spectral distribution of both types I and II collagen were similar to that observed via immunohistochemistry. Using the probe, the outer and inner regions of the meniscus were shown to be primarily composed of type I and II collagen, respectively, in accordance with immunohistochemistry data. In summary, multivariate analysis of infrared spectra can indeed be used to differentiate collagen type I and type II, even in the presence of proteoglycan, in connective tissues

  9. Spindle representation relative to distribution of muscle fiber types in the cat capsularis muscle.

    PubMed

    Eldred, E; Yung, L; Roy, R R

    1997-01-01

    The spatial representation of muscle spindles (Sps) in the small (approximately 0.2 g), simply structured capsularis muscle that crosses anterior to the cat's hip joint was compared with the distribution of the slow oxidative (SO) and few (< 10%) fast oxidative-glycolytic (FOG) fibers of which it is composed to see if their distributions were consistent with a hypothesis that sensory input from Sps influences the incidence of extrafusal fiber types. In frozen sections from 4 muscles, FOG fibers were enumerated along 1-mm strips across the muscle's maximum width, and between the 'superficial' surface and the 'deep' one that contacts the joint. The locations of Sps in complete serial sections of 2 paraffin-embedded muscles, one perfused with the hip joint flexed and the other with it extended, were plotted on an outline of each muscle at its midlength, and their numbers and density in horizontal and sagittal 'strata' determined. In general, the incidence of Sps increased down the superficial-to-deep axis, while FOG fibers became fewer, as is consistent with support of SO status by Sp input. Along the craniocaudal axis, i.e. width, the numbers of FOG fibers rose toward the hip joint, but this was not associated with a monomodal gradient of Sps. In the extended muscle, however, the lengths of the axial bundle and capsular space of Sps in the half of the muscle next to the joint exceeded those in the longer, cranial half, implying that under stretch the input from Sps became higher toward the joint. In the non-extended muscle these lengths did not differ, although the lengths of extrafusal fibers isolated from 2 macerated muscles and normalized according to sarcomere length decreased linearily by approximately 50% along craniocaudal axis. It is explained that if elastic resistance of a Sp's sensory region exceeded that of an equivalent length of septal tissue in-series, the progressive shift in the ratio of compliances across this trapezoidally-shaped muscle should

  10. Mitochondrial Bioenergetics and Fiber Type Assessments in Microbiopsy vs. Bergstrom Percutaneous Sampling of Human Skeletal Muscle

    PubMed Central

    Hughes, Meghan C.; Ramos, Sofhia V.; Turnbull, Patrick C.; Nejatbakhsh, Ali; Baechler, Brittany L.; Tahmasebi, Houman; Laham, Robert; Gurd, Brendon J.; Quadrilatero, Joe; Kane, Daniel A.; Perry, Christopher G. R.

    2015-01-01

    Microbiopsies of human skeletal muscle are increasingly adopted by physiologists for a variety of experimental assays given the reduced invasiveness of this procedure compared to the classic Bergstrom percutaneous biopsy technique. However, a recent report demonstrated lower mitochondrial respiration in saponin-permeabilized muscle fiber bundles (PmFB) prepared from microbiopsies vs. Bergstrom biopsies. We hypothesized that ADP-induced contraction (rigor) of smaller length microbiopsy PmFB causes a greater reduction in maximal respiration vs. Bergstrom, such that respiration could be increased by a myosin II ATPase-inhibitor (Blebbistatin; BLEB). Eleven males and females each received a 2 mm diameter percutaneous microbiopsy and a 5 mm diameter Bergstrom percutaneous biopsy in opposite legs. Glutamate/malate (5/0.5 mM)—supported respiration in microbiopsy PmFB was lower than Bergstrom at submaximal concentrations of ADP. 5 μM BLEB reduced this impairment such that there were no differences relative to Bergstrom ± BLEB. Surprisingly, pyruvate (5 mM)-supported respiration was not different between either biopsy technique ±BLEB, whereas BLEB increased succinate-supported respiration in Bergstrom only. H2O2 emission was lower in microbiopsy PmFB compared to Bergstrom PmFB in the presence of BLEB. Microbiopsies contained fewer type I fibers (37 vs. 47%) and more type IIX fibers (20 vs. 8%) compared to Bergstrom possibly due to sampling site depth and/or longitudinal location. These findings suggest that smaller diameter percutaneous biopsies yield lower glutamate-supported mitochondrial respiratory kinetics which is increased by preventing ADP-induced rigor with myosin inhibition. Microbiopsies of human skeletal muscle can be utilized for assessing mitochondrial respiratory kinetics in PmFB when assay conditions are supplemented with BLEB, but fiber type differences with this method should be considered. PMID:26733870

  11. Early detection of nerve fiber loss by corneal confocal microscopy and skin biopsy in recently diagnosed type 2 diabetes.

    PubMed

    Ziegler, Dan; Papanas, Nikolaos; Zhivov, Andrey; Allgeier, Stephan; Winter, Karsten; Ziegler, Iris; Brüggemann, Jutta; Strom, Alexander; Peschel, Sabine; Köhler, Bernd; Stachs, Oliver; Guthoff, Rudolf F; Roden, Michael

    2014-07-01

    We sought to determine whether early nerve damage may be detected by corneal confocal microscopy (CCM), skin biopsy, and neurophysiological tests in 86 recently diagnosed type 2 diabetic patients compared with 48 control subjects. CCM analysis using novel algorithms to reconstruct nerve fiber images was performed for all fibers and major nerve fibers (MNF) only. Intraepidermal nerve fiber density (IENFD) was assessed in skin specimens. Neurophysiological measures included nerve conduction studies (NCS), quantitative sensory testing (QST), and cardiovascular autonomic function tests (AFTs). Compared with control subjects, diabetic patients exhibited significantly reduced corneal nerve fiber length (CNFL-MNF), fiber density (CNFD-MNF), branch density (CNBD-MNF), connecting points (CNCP), IENFD, NCS, QST, and AFTs. CNFD-MNF and IENFD were reduced below the 2.5th percentile in 21% and 14% of the diabetic patients, respectively. However, the vast majority of patients with abnormal CNFD showed concomitantly normal IENFD and vice versa. In conclusion, CCM and skin biopsy both detect nerve fiber loss in recently diagnosed type 2 diabetes, but largely in different patients, suggesting a patchy manifestation pattern of small fiber neuropathy. Concomitant NCS impairment points to an early parallel involvement of small and large fibers, but the precise temporal sequence should be clarified in prospective studies. PMID:24574045

  12. Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice

    PubMed Central

    Foltz, Steven J.; Modi, Jill N.; Melick, Garrett A.; Abousaud, Marin I.; Luan, Junna; Fortunato, Marisa J.; Beedle, Aaron M.

    2016-01-01

    Glycosylated α-dystroglycan provides an essential link between extracellular matrix proteins, like laminin, and the cellular cytoskeleton via the dystrophin-glycoprotein complex. In secondary dystroglycanopathy muscular dystrophy, glycosylation abnormalities disrupt a complex O-mannose glycan necessary for muscle structural integrity and signaling. Fktn-deficient dystroglycanopathy mice develop moderate to severe muscular dystrophy with skeletal muscle developmental and/or regeneration defects. To gain insight into the role of glycosylated α-dystroglycan in these processes, we performed muscle fiber typing in young (2, 4 and 8 week old) and regenerated muscle. In mice with Fktn disruption during skeletal muscle specification (Myf5/Fktn KO), newly regenerated fibers (embryonic myosin heavy chain positive) peaked at 4 weeks old, while total regenerated fibers (centrally nucleated) were highest at 8 weeks old in tibialis anterior (TA) and iliopsoas, indicating peak degeneration/regeneration activity around 4 weeks of age. In contrast, mature fiber type specification at 2, 4 and 8 weeks old was relatively unchanged. Fourteen days after necrotic toxin-induced injury, there was a divergence in muscle fiber types between Myf5/Fktn KO (skeletal-muscle specific) and whole animal knockout induced with tamoxifen post-development (Tam/Fktn KO) despite equivalent time after gene deletion. Notably, Tam/Fktn KO retained higher levels of embryonic myosin heavy chain expression after injury, suggesting a delay or abnormality in differentiation programs. In mature fiber type specification post-injury, there were significant interactions between genotype and toxin parameters for type 1, 2a, and 2x fibers, and a difference between Myf5/Fktn and Tam/Fktn study groups in type 2b fibers. These data suggest that functionally glycosylated α-dystroglycan has a unique role in muscle regeneration and may influence fiber type specification post-injury. PMID:26751696

  13. A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.

    PubMed

    Ravenscroft, Gianina; Wilmshurst, Jo M; Pillay, Komala; Sivadorai, Padma; Wallefeld, William; Nowak, Kristen J; Laing, Nigel G

    2011-01-01

    We describe a severe congenital myopathy patient of Xhosa native African origin with a novel de novo p.Gly152Ala skeletal muscle α-actin gene (ACTA1) mutation, who died at 6 months of age. The muscle pathology demonstrated abundant cytoplasmic and intranuclear rods, core-like areas and the unusual feature of larger type I than type II fibres. Our results further expand the phenotypes associated with ACTA1 mutations and provide support for the hypothesis that the structural abnormalities seen are a pathological continuum dependent on the precise mutation and biopsy location. Our results also demonstrate the likely world-wide distribution of de novo mutations in this gene. PMID:20850316

  14. Rapidly involuting congenital hemangioma with fetal involution.

    PubMed

    Maguiness, Sheilagh; Uihlein, Lily Changchien; Liang, Marilyn G; Kozakewich, Harry; Mulliken, John B

    2015-01-01

    Uncommon congenital hemangiomas differ from common infantile hemangiomas in their appearance, postnatal behavior, histopathology, and immunohistologic staining. Two types are well described in the literature: noninvoluting congenital hemangioma (NICH) and rapidly involuting congenital hemangioma (RICH). We report a series of infants with another presentation of congenital hemangioma that arises prenatally and is nearly regressed at birth. This was a retrospective case series. We describe six infants with unusual congenital vascular tumors. Each lesion presented at birth as a violaceous, atrophic plaque with a surrounding pale halo. The lesions involuted in infancy, fading in color and becoming atrophic, with prominent central veins, similar to RICH in the final stage of regression. The distinctive morphology and behavior suggests that these tumors undergo a life cycle of proliferation and involution during fetal life. We describe a new variant of congenital hemangioma that we refer to as rapidly involuting congenital hemangioma with fetal involution.

  15. Temporal thermal response of Type II-IR fiber Bragg gratings

    SciTech Connect

    Liao Changrui; Wang Dongning; Li Yuhua; Sun Tong; Grattan, Kenneth T. V.

    2009-06-01

    We use the phase mask method to investigate both experimentally and theoretically the temporal thermal response of Type II-IR fiber Bragg gratings inscribed by a femtosecond laser. A fast testing system is developed to measure the thermal response time by means of periodic CO2 laser irradiation, which creates a rapid temperature change environment. The temporal thermal response is found to be independent of the heat power and the heat direction, although the grating produced destroys the axial symmetry of the fiber. The measured values of the temporal thermal response are {approx}230 ms for heating and {approx}275 ms for cooling, which different from the simulation results obtained from a lumped system equation. The causes of such differences are investigated in detail.

  16. Longitudinal compressive failure modes in fiber composites End attachment effects on IITRI type test specimens

    NASA Technical Reports Server (NTRS)

    Chamis, C. C.; Sinclair, J. H.

    1985-01-01

    The end-attachment effects on longitudinal compressive strength of IITRI type specimen unidirectional fiber composites are formally assessed using finite-element analysis (FEA) in conjunction with composite mechanics. Sixteen different cases were analyzed to evaluate end-attachment effects (such as degree of misalignment, type of misalignment, progressive end-tab debonding, and specimen thickness) on stress distribution, peak stresses, buckling loads, and buckling mode shapes. The results obtained from the FEA and comparisons with fractured specimens show that eccentricities induce bending-type stresses which peak near the end-tabs and cause flexural type fracture. Also, guidelines are included for placing back-to-back strain gages to measure the presence/absence of possible end-attachment and eccentricity effects.

  17. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  18. A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.

    PubMed

    Arikoglu, Tugba; Yarali, Nese; Kara, Abdurrahman; Bay, Ali; Bozkaya, Ikbal O; Tunc, Bahattin; Percy, Melanie J

    2009-01-01

    The presence of central cyanosis that is unrelated to cardiopulmonary causes alerts clinicians to a possible diagnosis of methemoglobinemia. Congenital methemoglobinemia due to deficiency of nicotinamide-adenine dinucleotide (NADH)-cytochrome b5 reductase (cb(5)r) is an autosomal recessive disorder characterized by life long cyanosis. Here we report a six-year old boy who presented with central cyanosis and upon examination revealed a methemoglobin level of 19.0%. Sequencing the CYB5R3 gene identified a homozygous T-->C transition at base c.653, which changed codon 218 from leucine to proline (L218P) in cb(5)r protein. Treatment with ascorbic acid relieved the cyanosis and returned methemoglobin levels to normal. PMID:19579085

  19. Creatinine clearance, urinary excretion of glomerular basement membrane antigens and renal histology in congenital nephrotic syndrome of Finnish type.

    PubMed

    Huttunen, N P

    1977-04-01

    The endogenous creatinine clearance and urinary excretion rate of glomerular basement membrane (GBM) antigens were followed from 2 to 19 months in fifteen patients with congenital nephrotic syndrome (CNF). The quantitative examination of renal morphology was made on fourteen of these patients. Creatinine clearance increased during the first few months of life and thereafter gradually decreased. The urinary excretion rate of GBM antigens rose during the course of the disease. The creatinine clearance did not correlate significantly with glomerular fibrosis but it did correlate with tubular atrophy and interstitial fibrosis. The urinary excretion of GBM antigens correlated significantly with glomerular and interstitial fibrosis and with tubular atrophy. It is concluded that there is a clear progress in the disease and the renal histological changes probably are caused by accumulation of GBM material in glomeruli.

  20. The miRNA Transcriptome Directly Reflects the Physiological and Biochemical Differences between Red, White, and Intermediate Muscle Fiber Types

    PubMed Central

    Ma, Jideng; Wang, Hongmei; Liu, Rui; Jin, Long; Tang, Qianzi; Wang, Xun; Jiang, Anan; Hu, Yaodong; Li, Zongwen; Zhu, Li; Li, Ruiqiang; Li, Mingzhou; Li, Xuewei

    2015-01-01

    MicroRNAs (miRNAs) are small non-coding RNAs that can regulate their target genes at the post-transcriptional level. Skeletal muscle comprises different fiber types that can be broadly classified as red, intermediate, and white. Recently, a set of miRNAs was found expressed in a fiber type-specific manner in red and white fiber types. However, an in-depth analysis of the miRNA transcriptome differences between all three fiber types has not been undertaken. Herein, we collected 15 porcine skeletal muscles from different anatomical locations, which were then clearly divided into red, white, and intermediate fiber type based on the ratios of myosin heavy chain isoforms. We further illustrated that three muscles, which typically represented each muscle fiber type (i.e., red: peroneal longus (PL), intermediate: psoas major muscle (PMM), white: longissimus dorsi muscle (LDM)), have distinct metabolic patterns of mitochondrial and glycolytic enzyme levels. Furthermore, we constructed small RNA libraries for PL, PMM, and LDM using a deep sequencing approach. Results showed that the differentially expressed miRNAs were mainly enriched in PL and played a vital role in myogenesis and energy metabolism. Overall, this comprehensive analysis will contribute to a better understanding of the miRNA regulatory mechanism that achieves the phenotypic diversity of skeletal muscles. PMID:25938964

  1. Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features?☆,☆☆

    PubMed Central

    Feinberg, Adina; Hall, Nigel J.; Williams, Gretchen M.; Schultz, Kris Ann P.; Miniati, Doug; Hill, D. Ashley; Dehner, Louis P.; Messinger, Yoav H.; Langer, Jacob C.

    2016-01-01

    Background The management of congenital cystic lung lesions is controversial. Arguments for routine resection during infancy include the possibility of the lesion being Type I pleuropulmonary blastoma (PPB) rather than a cystic congenital pulmonary airway malformation (CPAM). We aimed to identify clinical and radiological features that might distinguish between CPAM and PPB and to develop a diagnostic algorithm based on these features. Methods All recorded cases of Type I PPB were retrieved from the International PPB Registry and compared with an institutional cohort of children undergoing resection of CPAM (2002–2013) that was noted at some stage to be at least partially cystic. Regression models were created to identify variables that might differentiate CPAM from PPB. Odds ratio (OR) and positive predictive value (PPV) were calculated for each variable and a decision algorithm developed. Results In 112 cases of Type I PPB and 103 of CPAM, factors favoring a diagnosis of CPAM included prenatal detection (OR 89.4), systemic feeding vessel (OR 61.7), asymptomatic (OR 8.0), and hyperinflated lung (OR 6.6). Factors favoring a diagnosis of PPB included bilateral or multisegment involvement (OR 2.4). A decision algorithm that helps to identify lesions requiring resection and those which can be safely observed is presented. Conclusion Clinical and radiological features can help to differentiate between CPAM and PPB. Our algorithm allows identification of children at higher risk of PPB in whom we would recommend resection and those at low risk in whom continued close observation is safe. PMID:26561249

  2. X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures.

    PubMed

    Askanas, V; Engel, W K; Reddy, N B; Barth, P G; Bethlem, J; Krauss, D R; Hibberd, M E; Lawrence, J V; Carter, L S

    1979-10-01

    Muscle cells in cultures established from biopsy specimens of two children with an infantile-fatal form of X-linked recessive muscle fiber smallness with central nuclei showed an unusual ability to proliferate through numerous passages. Ultrastructurally, the cultured muscle fibers appeared very immature even after several weeks. The nuclei were large, the number of ribosomes was greatly increased, the myofibrils remained unstriated, and glycogen was accumulated in large lakes. The plasmalemma bound concanavalin A, alpha-bungarotoxin, and ruthenium red normally, but with tannic acid it did not show the dark binding of mature fibers. Biochemically, in the cultured muscle fibers, beta-adrenergic receptors were quantitatively normal. The level of adenylate cyclase in membranes was less than in cultured normal muscle; this defect could be responsible for impaired control mechanisms resulting in the other abnormalities observed.

  3. Role of 17 beta-estradiol on type IV collagen fibers volumetric density in the basement membrane of bladder wall.

    PubMed

    de Fraga, Rogerio; Dambros, Miriam; Miyaoka, Ricardo; Riccetto, Cássio Luís Zanettini; Palma, Paulo César Rodrigues

    2007-10-01

    The authors quantified the type IV collagen fibers volumetric density in the basement membrane of bladder wall of ovariectomized rats with and without estradiol replacement. This study was conducted on 40 Wistar rats (3 months old) randomly divided in 4 groups: group 1, remained intact (control); group 2, submitted to bilateral oophorectomy and daily replacement 4 weeks later of 17 beta-estradiol for 12 weeks; group 3, sham operated and daily replacement 4 weeks later of sesame oil for 12 weeks; and group 4, submitted to bilateral oophorectomy and killed after 12 weeks. It was used in immunohistochemistry evaluation using type IV collagen polyclonal antibody to stain the fibers on paraffin rat bladder sections. The M-42 stereological grid system was used to analyze the fibers. Ovariectomy had an increase effect on the volumetric density of the type IV collagen fibers in the basement membrane of rat bladder wall. Estradiol replacement in castrated animals demonstrated a significative difference in the stereological parameters when compared to the castrated group without hormonal replacement. Surgical castration performed on rats induced an increasing volumetric density of type IV collagen fibers in the basement membrane of rats bladder wall and the estradiol treatment had a significant effect in keeping a low volumetric density of type IV collagen fibers in the basement membrane of rats bladder wall.

  4. Experimental observation of different soliton types in a net-normal group-dispersion fiber laser.

    PubMed

    Feng, Zhongyao; Rong, Qiangzhou; Qiao, Xueguang; Shao, Zhihua; Su, Dan

    2014-09-20

    Different soliton types are observed in a net-normal group-dispersion fiber laser based on nonlinear polarization rotation for passive mode locking. The proposed laser can deliver a dispersion-managed soliton, typical dissipation solitons, and a quasi-harmonic mode-locked pulse, a soliton bundle, and especially a dark pulse by only appropriately adjusting the linear cavity phase delay bias using one polarization controller at the fixed pump power. These nonlinear waves show different features, including the spectral shapes and time traces. The experimental observations show that the five soliton types could exist in the same laser cavity, which implies that integrable systems, dissipative systems, and dark pulse regimes can transfer and be switched in a passively mode-locked laser. Our studies not only verify the numeral simulation of the different soliton-types formation in a net-normal group-dispersion operation but also provide insight into Ginzburg-Landau equation systems.

  5. Fiber-type sensor of refractive indices and concentration of liquids

    NASA Astrophysics Data System (ADS)

    Zhang, Weigang; Xu, Zhaowen; Yang, Xiang-Peng; Kai, Guiyun; Yuan, Shou-Zhong; Dong, Xiaoyi

    2001-10-01

    A portable and practical fiber-type sensor, with which can determine the refractive index and the concentration of the liquid, has been designed and realized. The method combines simplicity of structure, facility of operation, wide range of measurement and low price. It can be used either by immersing the liquid or by pouring one drop of liquid into the sensing head. The measuring resolution of the refractive index is 1.41 X 10-4 for the refractive indices of 1.33 - 1.70, and the measuring resolution of the concentration is 2.67 X 10-4 for the salt solution and the sugar solution.

  6. QTL Analysis of Type I and Type IIA Fibers in Soleus Muscle in a Cross between LG/J and SM/J Mouse Strains

    PubMed Central

    Carroll, Andrew M.; Palmer, Abraham A.; Lionikas, Arimantas

    2011-01-01

    Properties of muscle fibers, i.e., their type, number and size, are important determinants of functional characteristics of skeletal muscle, and of the quality of meat in livestock. Genetic factors play an important role in determining variation in fiber properties, however, specific genes remain largely elusive. We examined histological properties of soleus muscle fibers in two strains of mice exhibiting a twofold difference in muscle mass, LG/J and SM/J, and their F2 intercross. The total number of muscle fibers (555 ± 106; mean ± SD) did not differ between the strains or between males and females. A higher percentage of type I fibers was observed in the LG/J compared to the SM/J strain (P < 0.001) in both males (45 ± 3 vs. 37 ± 4%) and females (58 ± 4 vs. 41 ± 3%). Across strains, females had a higher percentage of type I fibers than males (P < 0.001), and the sex effect was greater in the LG/J strain (strain-by-sex interaction, P < 0.001). The cross-sectional area (CSA) did not differ between type I and type IIA fibers, but was greater in the LG/J than the SM/J strain (1365 ± 268 vs. 825 ± 229 μm2, P < 0.001). Three significant quantitative trait locus (QTL) affecting CSA for type I and type IIA fibers mapped to chromosomes (Chr) 1, 6, and 11 and three suggestive QTL for percentage of type I fibers mapped to Chr 2, 3, and 4. Within each significant QTL, regions of conserved synteny were also implicated in variation of similar traits in an analogous study in pigs. Our results provide the evidence that the intercross between the SM/J and LG/J strains is a promising model to search for genes affecting muscle fiber properties. PMID:22303393

  7. QTL Analysis of Type I and Type IIA Fibers in Soleus Muscle in a Cross between LG/J and SM/J Mouse Strains.

    PubMed

    Carroll, Andrew M; Palmer, Abraham A; Lionikas, Arimantas

    2011-01-01

    Properties of muscle fibers, i.e., their type, number and size, are important determinants of functional characteristics of skeletal muscle, and of the quality of meat in livestock. Genetic factors play an important role in determining variation in fiber properties, however, specific genes remain largely elusive. We examined histological properties of soleus muscle fibers in two strains of mice exhibiting a twofold difference in muscle mass, LG/J and SM/J, and their F2 intercross. The total number of muscle fibers (555 ± 106; mean ± SD) did not differ between the strains or between males and females. A higher percentage of type I fibers was observed in the LG/J compared to the SM/J strain (P < 0.001) in both males (45 ± 3 vs. 37 ± 4%) and females (58 ± 4 vs. 41 ± 3%). Across strains, females had a higher percentage of type I fibers than males (P < 0.001), and the sex effect was greater in the LG/J strain (strain-by-sex interaction, P < 0.001). The cross-sectional area (CSA) did not differ between type I and type IIA fibers, but was greater in the LG/J than the SM/J strain (1365 ± 268 vs. 825 ± 229 μm(2), P < 0.001). Three significant quantitative trait locus (QTL) affecting CSA for type I and type IIA fibers mapped to chromosomes (Chr) 1, 6, and 11 and three suggestive QTL for percentage of type I fibers mapped to Chr 2, 3, and 4. Within each significant QTL, regions of conserved synteny were also implicated in variation of similar traits in an analogous study in pigs. Our results provide the evidence that the intercross between the SM/J and LG/J strains is a promising model to search for genes affecting muscle fiber properties.

  8. Influence of genetic type, slaughter weight and sex on ovine muscle fiber and fat-cell development.

    PubMed

    Hawkins, R R; Moody, W G; Kemp, J D

    1985-11-01

    Histological properties from the longissimus (LD) and semimembranosus (SM) muscles of 51 wether and ewe lambs from Hampshire rams and two ewe genetic types (SR, 1/2 Suffolk and 1/2 Rambouillet, and FS, 1/2 Finnish Landrace and 1/2 Southdown) and three slaughter live weights (32, 41 and 50 kg) were compared. Fibers in both muscles were classified as beta R (red), alpha R (intermediate) or alpha W (white). All LD muscle fiber types from FS ewe lambs increased in diameter from 32 to 41 kg, but decreased in diameter from 41 to 50 kg. Also, this quadratic effect with slaughter weight was found in alpha R and alpha W fibers from the SM muscle of FS wether and ewe lambs. However, diameters of alpha R and alpha W fibers from SR wether and ewe lambs and beta R fibers from SR ewe lambs increased linearly in the SM muscle with increasing slaughter weight. As slaughter weight increased, the proportion of alpha R fibers decreased in both the LD and SM muscles for SR wether and FS wether and ewe lambs. Concurrent with the increase in slaughter weight and decrease in alpha R fiber percentage, the proportion of alpha W fibers increased in the LD muscle of SR wether lambs, the SM muscle of SR ewe lambs and both muscles of FS wether and ewe lambs. Genetic type and sex groups, except SR ewe lambs, support the theory of transformation of alpha R to alpha W fibers with increasing slaughter weights. Fat-cell diameters increased in both muscles of SR wether and FS ewe lambs with increasing slaughter weights. Increases in fat traits of lamb carcasses were related to increases in red-fiber size. Alpha red fiber numbers were inversely related (P less than .05) to alpha W fiber numbers in both the LD and SM muscles (r = -.83 and -.79). The proportion of alpha R to alpha W fibers might be used as an indicator of physiological maturity for lambs.

  9. Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1.

    PubMed

    Jacobi, F K; Broghammer, M; Pesch, K; Zrenner, E; Berger, W; Meindl, A; Pusch, C M

    2000-07-01

    X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by impaired night vision, variably involving high myopia, nystagmus, decreased visual acuity, and strabismus. Linkage studies have identified two distinct loci for X-linked CSNB1 and CSNB2 on the short arm of chromosome X. The gene mutated in families displaying the "incomplete phenotype" of CSNB (i.e., CSNB2) has recently been identified. To identify novel candidate genes for the "complete form" of CSNB (i.e., CSNB1) we screened the physically vast region Xp11.3-Xp11.4 for cDNA sequences. This led us to identify and map the G protein coupled receptor (GPCR) gene GPR34 to Xp11.4 within 650 kb of the marker DXS993. Deletion screening via Southern blotting and direct sequencing of GPR34 revealed no mutations in 19 unrelated men with CSNB1, excluding a causal role in the disease. However, because of its expression in retinal and neural tissue and the involvement of GPCRs in transmembrane signal transduction, GPR34 remains a putative candidate gene for a number of ocular diseases which also map to the Xp11.4 region. PMID:10982042

  10. Differential sensitivity of myosin-heavy-chain-typed fibers to distinct aggregates of nerve-mediated activation.

    PubMed

    Dunn, S E; Michel, R N

    1999-02-01

    We studied the regulatory effects of nerve-mediated activity on the early expression of embryonic and adult myosin heavy chains (MHC) within inactive though still innervated rat plantaris and soleus muscle fibers. To this end, we stimulated motor nerves that were quiescent following treatment with tetrodotoxin (TTX) with paradigms designed to partition the influence of neural activation frequency and assessed the selective expression and accumulation of MHCs within muscle fibers using an array of specific antibodies. We show rapid de novo expression of IIx MHC within select soleus fibers in response to high-frequency activation for more than 0.01% of daily time. High-frequency aggregates were also the most effective in preventing the TTX-induced reexpression of embryonic MHCs within specific fibers. Only configurations that included high-frequency trains for more than 0.01% of daily time or combined with 10 Hz stimulation preserved the size of select fibers, used as a measure of the net cellular content of MHC. The effectiveness of this preservation varied according to the muscle type and MHC expressed, and, in a subset of fibers, was influenced by contractile loading status. Our results demonstrate that distinct subsets of MHC-typed fibers are differentially sensitive to the neural activation cues mediating the cellular expression of these proteins.

  11. A self-mixing based ring-type fiber-optic acoustic sensor

    NASA Astrophysics Data System (ADS)

    Wang, Lutang; Wu, Chunxu; Fang, Nian

    2014-07-01

    A novel, simple fiber-optic acoustic sensor consisting of a self-mixing effect based laser source and a ring-type interferometer is presented. With weak external optical feedbacks, the acoustic wave signals can be detected by measuring the changes of oscillating frequency of the laser diode, induced by the disturbances of sensing fiber, with the ring-type interferometer. The operation principles of the sensor system are explored in-depth and the experimental researches are carried out. The acoustic wave signals produced by various actions, such as by pencil broken, mental pin free falling and PZT are detected for evaluating the sensing performances of the experimental system. The investigation items include the sensitivity as well as frequency responses of the sensor system. An experiment for the detection of corona discharges is carried out, which occur in a high-voltage environment between two parallel copper electrodes, under different humidity levels. The satisfied experimental results are obtained. These experimental results well prove that our proposed sensing system has very high sensitivity and excellent high frequency responses characteristics in the detections of weak, high-frequency acoustic wave signals.

  12. [Composition, physico-chemical properties and molecular superstructure of dietary fiber preparations of the cellan type].

    PubMed

    Dongowski, G; Frigge, K; Zenke, I

    1995-07-01

    Dietary fiber preparations of "cellan" type were prepared from apples, white cabbage, sugar beet pulp, soy hulls and wheat bran by treatment with amylolytic and proteolytic enzymes as well as by chemical extractions. Scanning electron microscopic examinations show different morphological structures of the preparations and a high maintenance of native biomolecular superstructure. The content of pectin, protein, polysaccharide-hexoses and -pentoses and the composition of monosaccharides (also after their treatment with 4 or 8% sodium hydroxide) were determined. The cellans possess waterbinding capacities (WBC) between < 10 and > 25 g H2O/g and waterholding capacities between < 10 and > 50 g H2O/g. The WBC is related to the internal surface; it diminishes after treatment with NaOH. The interactions between the cellans and the adsorbed water were characterized by NMR-spin-lattice relaxation time T1. The molecular mobility increases as the water content grows. The T1-values of dried cellans decreased with increasing degree of moisture before drying. The supermolecular structure is comparatively disordered. Only in case of soy cellan a crystalline cellulose-I-modification could be identified by X-ray-diffraction pattern, esp. after NaOH treatment. The low degree of order of cellans was observed in the 13C-NMR spectra, too. Only the soy hull preparation resulted in a spectrum corresponding to well-ordered cellulose. The botanic source has an essential influence on the physico-chemical properties of dietary fiber preparations of cellan type.

  13. Congenital Toxoplasmosis

    PubMed Central

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  14. Passively mode-locked fiber laser by a cell-type WS2 nanosheets saturable absorber

    PubMed Central

    Yan, Peiguang; Liu, Aijiang; Chen, Yushan; Wang, JinZhang; Ruan, Shuangchen; Chen, Hao; Ding, Jinfei

    2015-01-01

    A cell-type saturable absorber has been demonstrated by filling the single mode photonic crystal fiber (SMPCF) with tungsten disulfide (WS2) nanosheets. The modulation depth, saturable intensity, and non-saturable loss of this SA are measured to be 3.53%, 159 MW/cm2 and 23.2%, respectively. Based on this SA, a passively mode-locked EDF laser has been achieved with pulse duration of 808 fs and repetition rate of 19.57 MHz, and signal-noise-ratio (SNR) of 60.5 dB. Our results demonstrate that the cell-type WS2 nanosheets SA can serve as a good candidate for short-pulse mode locker. PMID:26213180

  15. Evaluation of three different optical fiber temperature sensor types for application in gamma radiation environments

    SciTech Connect

    Berghmans, F.; Vos, F.; Decreton, M.

    1998-06-01

    The authors compare the gamma radiation response of three different types of commercially available optical fiber temperature sensors. These are semiconductor absorption, Fabry-Perot cavity and fluorescence sensors. In order to evaluate their possible application in nuclear environments, they first highlight the principles of operation and the constructions. They then report on the gamma irradiation results and explain the observed degradation phenomena. For all three sensor types, the basic transduction mechanism does not seem to be affected by gamma radiation. The semiconductor absorption sensor shows a good radiation resistance (up to 160 kGy) in its present form, whereas the other sensor constructions need to be adapted. For the semiconductor absorption sensor, additional neutron irradiation experiments are performed, which are found to affect the principle of operation of this sensor.

  16. A simultaneous interrogation system for intensity-type sensor/fiber Bragg grating/extrinsic Fabry-Perot interferometer

    NASA Astrophysics Data System (ADS)

    Jiang, Yi; Tang, Caijie

    2009-02-01

    A simultaneous interrogation system for an intensity-type sensor, fiber Bragg grating and an extrinsic Fabry-Perot interferometer is demonstrated. The three types of sensors occupy different wavelengths ranging from 1524 nm to 1563 nm, and all sensors are wavelength-division multiplexed and interrogated in one demodulation system. Experimental results show that a wavelength resolution of 2 pm for fiber Bragg grating, a loss resolution of 0.1 dB for an intensity-type sensor and a cavity-length resolution of 3.5 nm for an extrinsic Fabry-Perot interferometer are obtained. The cross-talk between the different sensors is also examined.

  17. Muscle enzyme and fiber type-specific sarcomere protein increases in serum after inertial concentric-eccentric exercise.

    PubMed

    Carmona, G; Guerrero, M; Cussó, R; Padullés, J M; Moras, G; Lloret, M; Bedini, J L; Cadefau, J A

    2015-12-01

    Muscle damage induced by inertial exercise performed on a flywheel device was assessed through the serum evolution of muscle enzymes, interleukin 6, and fiber type-specific sarcomere proteins such as fast myosin (FM) and slow myosin (SM). We hypothesized that a model of muscle damage could be constructed by measuring the evolution of serum concentration of muscle proteins following inertial exercise, according to their molecular weight and the fiber compartment in which they are located. Moreover, by measuring FM and SM, the type of fibers that are affected could be assessed. Serum profiles were registered before and 24, 48, and 144 h after exercise in 10 healthy and recreationally active young men. Creatine kinase (CK) and CK-myocardial band isoenzyme increased in serum early (24 h) and returned to baseline values after 48 h. FM increased in serum late (48 h) and remained elevated 144 h post-exercise. The increase in serum muscle enzymes suggests increased membrane permeability of both fast and slow fibers, and the increase in FM reveals sarcomere disruption as well as increased membrane permeability of fast fibers. Consequently, FM could be adopted as a fiber type-specific biomarker of muscle damage. PMID:25441613

  18. Symptoms of autism among children with congenital deafblindness.

    PubMed

    Dammeyer, Jesper

    2014-05-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism. PMID:24127166

  19. Are there parental socialization effects on the sex-typed behavior of individuals with congenital adrenal hyperplasia?

    PubMed

    Wong, Wang I; Pasterski, Vickie; Hindmarsh, Peter C; Geffner, Mitchell E; Hines, Melissa

    2013-04-01

    Influences of prenatal androgen exposure on human sex-typical behavior have been established largely through studies of individuals with congenital adrenal hyperplasia (CAH). However, evidence that addresses the potential confounding influence of parental socialization is limited. Parental socialization and its relationship to sex-typical toy play and spatial ability were investigated in two samples involving 137 individuals with CAH and 107 healthy controls. Females with CAH showed more boy-typical toy play and better targeting performance than control females, but did not differ in mental rotations performance. Males with CAH showed worse mental rotations performance than control males, but did not differ in sex-typical toy play or targeting. Reported parental encouragement of girl-typical toy play correlated with girl-typical toy play in all four groups. Moreover, parents reported encouraging less girl-typical, and more boy-typical, toy play in females with CAH than in control females and this reported encouragement partially mediated the relationship between CAH status and sex-typical toy play. Other evidence suggests that the reported parental encouragement of sex-atypical toy play in girls with CAH may be a response to the girls' preferences for boys' toys. Nevertheless, this encouragement could further increase boy-typical behavior in girls with CAH. In contrast to the results for toy play, we found no differential parental socialization for spatial activities and little evidence linking parental socialization to spatial ability. Overall, evidence suggests that prenatal androgen exposure and parental socialization both contribute to sex-typical toy play.

  20. Diagnostic, prognostic and therapeutic relevance of B-type natriuretic hormone and related peptides in children with congenital heart diseases.

    PubMed

    Cantinotti, Massimiliano; Giovannini, Stefania; Murzi, Bruno; Clerico, Aldo

    2011-04-01

    The aim of this article is to review the diagnostic and prognostic relevance of measurement of brain natriuretic peptide (BNP) and N-terminal pro-brain natriuretic peptide (NT-proBNP) in pediatric patients with congenital cardiac diseases (CHD). A computerized literature search in the National Library of Medicine using the keywords "BNP assay" and "NT-proBNP assay"+neonate/s and newborn/s was performed. Next, we refined the analysis to include only the studies specifically designed to evaluate the clinical usefulness of BNP and NT-proBNP measurements in children with CHD. Several authors suggested that BNP/NT-proBNP is clinically helpful as a diagnostic and prognostic marker for children with suspected CHD. BNP values are age dependent, even in paediatric populations. Unfortunately, accurate reference values for BNP and NT-proBNP for neonatal ages have only recently become available. As a result, the lack of homogenous and accurate decisional levels in the neonatal period greatly limits the clinical impact of the BNP assay, and also contributed to the production of conflicting results. Regardless of age, there is great variability in BNP/NT-proBNP values among CHD characterized by different hemodynamic and clinical conditions. In particular, cardiac defects characterized by left ventricular volume and pressure overload usually show a higher BNP response than CHD which is characterized by right ventricular volume or pressure overload. BNP and NT-proBNP may be considered helpful markers in the integral clinical approach for patients with CHD. Measurement of BNP cannot replace cardiac imaging (including echocardiography, angiography and magnetic resonance), but provide independent, low cost and complementary information for the evaluation of cardiac function and clinical status.

  1. A rare case of Chiari type-1 malformation accompanied by symptomatic cerebrospinal fluid hypovolemia: comparison of congenital Chiari type-1 malformation and acquired Chiari malformation secondary to cerebrospinal fluid hypovolemia: case report.

    PubMed

    Hatae, Ryusuke; Kohri, Ryusuke; Maeda, Kazushi; Miyazono, Masayuki

    2014-01-01

    A 23-year-old woman was injured in a rear-end collision. She had general malaise and posterior neck pain, which were more severe when she was in an upright position. Magnetic resonance imaging (MRI) revealed the presence of cerebellar tonsil descensus and syringomyelia in the spinal cord. Radioisotope (RI) cisternography showed signs of an early accumulation of RI in the bladder, and a delayed accumulation of RI in the cerebral fornix. We considered the possibilities of cerebrospinal fluid (CSF) hypovolemia and congenital Chiari type-1 malformation as being responsible for her headache. To obtain a definitive diagnosis, we performed gadolinium (Gd)-enhanced MR cisternography and found evidence of CSF leakage. We performed an epidural blood patch (EBP), and her symptoms resolved. In 2 years since the episode, her symptoms have not recurred, and additional treatment has not been required. In addition, MRI performed 2 years after the EBP did not reveal any changes. There seems no previous report which described successful differentiation of pre-existing congenital Chiari type-1 malformation from the acquired one caused by symptomatic CSF hypovolemia. Because treatment protocols differ between these two conditions, the establishment of a correct diagnosis is important.

  2. Absorption of carbohydrate-derived nutrients in sows as influenced by types and contents of dietary fiber.

    PubMed

    Serena, A; Jørgensen, H; Bach Knudsen, K E

    2009-01-01

    The current investigation was undertaken to study the absorption and plasma concentration of carbohydrate-derived nutrients [glucose, short-chain fatty acids (SCFA), and lactate] and the apparent insulin production in sows fed diets containing contrasting types and contents of dietary fiber. Six sows were fed 3 experimental diets, low fiber (LF; 177 g of dietary fiber and 44 g of soluble fiber/kg of DM), high soluble fiber (HF-S; 429 g of dietary fiber and 111 g of soluble fiber/kg of DM), and high insoluble fiber (HF-I; 455 g of dietary fiber and 74 g of soluble fiber/kg of DM), in a repeated crossover design. Variations in dietary concentration and solubility of dietary fiber were obtained by substituting starch-rich wheat and barley in the LF diet with dietary fiber-rich co-products (sugar beet pulp, potato pulp, pectin residue, brewers spent grain, pea hulls, and seed residue, which have distinct physicochemical properties). The main carbohydrate component of the LF diet was starch and nonstarch polysaccharides (cellulose and noncellulosic polysaccharides) for the 2 high dietary fiber diets. Consumption of the LF diet resulted in increased and rapid glucose absorption at 0 to 4 h postfeeding. With the HF-I diet, the glucose absorption pattern was similar but at a decreased rate, whereas it was decreased and delayed with the HF-S diet (diet, P < 0.001; time, P < 0.001). These differences were also reflected in the insulin response. The quantitative absorption of SCFA at 0 to 10 h postfeeding was greater when feeding the HF-S diet compared with the LF diet (P < 0.001) and intermediate when feeding the HF-I diet (P < 0.001). The study showed that feeding the high dietary fiber diets resulted in a increased and more uniform uptake of SCFA than when feeding the LF control. Moreover, the HF-S diet reduced diurnal variation in glucose and insulin concentrations.

  3. [An adulthood progressive case of congenital nemaline myopathy showing rimmed vacuoles in muscle biopsy and diffuse neurogenic changes on electromyography].

    PubMed

    Ikezoe, Koji; Murai, Hiroyuki; Kawajiri, Masakazu; Ohyagi, Yasumasa; Kira, Jun-ichi

    2004-07-01

    A 29-year-old woman with benign congenital nemaline myopathy is reported. She did not walk until the age of one year and seven months. Although she acquired the ability to run, she ran very slowly. She first noticed the progression of weakness of the limbs at age 21, and it worsened gradually. On admission, she showed moderate weakness in the face, neck, and four limbs. Serum creatine kinase was elevated to 218 U/l. Needle electromyography showed giant and polyphasic motor unit potentials with a reduced reference pattern in the four limbs diffusely. In muscle biopsy, about 10% of fibers had many small vacuoles, and half of them were rimmed. Modified Gomori trichrome stain revealed nemaline rods in about 20% of both type I and type II fibers. Fibers with large diameter and atrophic ones showed increased acid phosphatase activity. Type I fibers were small, and type II fibers numbered only 2%. We diagnosed her illness as a congenital nemaline myopathy that began in infancy and progressed in adulthood. The increased autophagic activity probably caused the progression of muscle weakness. Moreover, the presence of both nemaline rods and rimmed vacuoles may have contributed to the development of diffuse neurogenic changes seen in electromyography.

  4. Congenital scoliosis - Quo vadis?

    PubMed

    Debnath, Ujjwal K; Goel, Vivek; Harshavardhana, Nanjanduppa; Webb, John K

    2010-04-01

    Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV) which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions) and patient's age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only) surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the

  5. Observations of four types of pulses in a fiber laser with large net-normal dispersion.

    PubMed

    Wang, Leiran; Liu, Xueming; Gong, Yongkang; Mao, Dong; Duan, Lina

    2011-04-11

    Four different types of pulses are experimentally obtained in one erbium-doped all-fiber laser with large net-normal dispersion. The proposed laser can deliver the rectangular-spectrum (RS), Gaussian-spectrum (GS), broadband-spectrum (BS), and noise-like pulses by appropriately adjusting the polarization states. These kinds of pulses have distinctly different characteristics. The RS pulses can easily be compressed to femtosecond level whereas the pulse energy is restricted by the trend of multi-pulse shaping with excessive pump. The GS and BS pulses always maintain the single-pulse operation with much higher pulse-energy and accumulate much more chirp. After launching the pulses into the photonic-crystal fiber, the supercontinuum can be generated with the bandwidth of >700 nm by the BS pulses and of ~400 nm by the GS pulses, whereas it can hardly be generated by the RS pulses. The physical mechanisms behind the continuum generation are qualitatively investigated relating to different operating regimes. This work could help to a deeper insight of the normal-dispersion pulses. PMID:21503070

  6. A novel multi-coaxial hollow fiber bioreactor for adherent cell types. Part 1: hydrodynamic studies.

    PubMed

    Wolfe, Stephen P; Hsu, Edward; Reid, Lola M; Macdonald, Jeffrey M

    2002-01-01

    A novel multi-coaxial bioreactor for three-dimensional cultures of adherent cell types, such as liver, is described. It is composed of four tubes of increasing diameter placed one inside the other, creating four spatially isolated compartments. Liver acinar structure and physiological parameters are mimicked by sandwiching cells in the space between the two innermost semi-permeable tubes, or hollows fibers, and creating a radial flow of media from an outer compartment (ECC), through the cell mass compartment, and to an inner compartment (ICC). The outermost compartment is created by gas-permeable tubing, and the housing is used to oxygenate the perfusion media to periportal levels in the ECC. Experiments were performed using distilled water to correlate the radial flow rate (Q(r)) with (1) the pressure drop (DeltaP) between the media compartments that sandwich the cell compartment and (2) the pressure in the cell compartment (P(c)). These results were compared with the theoretical profile calculated based on the hydraulic permeability of the two innermost fibers. Phase-contrast velocity-encoded magnetic resonance imaging was used to visualize directly the axial velocities inside the bioreactor and confirm the assumptions of laminar flow and zero axial velocity at the boundaries of each compartment in the bioreactor. Axial flow rates were calculated from the magnetic resonance imaging results and were similar to the measured axial flow rates for the previously described experiments.

  7. Pasted type distributed two-dimensional fiber Bragg grating vibration sensor.

    PubMed

    Li, Tianliang; Tan, Yuegang; Zhou, Zude; Wei, Qin

    2015-07-01

    A pasted type distributed two-dimensional fiber Bragg grating (FBG) vibration sensor has been proposed and studied in this paper. The optical fiber is directly considered as an elastomer. The two-dimensional vibration can be separated by subtraction/addition of two FBGs' center wavelength shift. The principle of the sensor as well as numerical simulation and experimental analyses are presented. Experimental results show that the resonant frequencies of the sensor x/y main vibration direction are separately 1300/20.51 Hz, which are consistent with the numerical simulation analysis result. The flat frequency range resides in 10-750 Hz and 3-12 Hz, respectively; dynamic range is 28.63 dB; in the x main vibration direction, the sensor's sensitivity is 32.84 pm/g, with linearity 3.91% in the range of 10-60 m/s(2), while in the y main vibration direction, the sensor's sensitivity is 451.3 pm/g, with linearity 1.92% in the range of 1.5-8 m/s(2). The cross sensitivity is 3.91%. Benefitting from the two dimensional sensing properties, it can be used in distributed two-dimensional vibration measurement.

  8. Crystallographic Structure of Porcine Adenovirus Type 4 Fiber Head and Galectin Domains▿

    PubMed Central

    Guardado-Calvo, Pablo; Muñoz, Eva M.; Llamas-Saiz, Antonio L.; Fox, Gavin C.; Kahn, Richard; Curiel, David T.; Glasgow, Joel N.; van Raaij, Mark J.

    2010-01-01

    Adenovirus isolate NADC-1, a strain of porcine adenovirus type 4, has a fiber containing an N-terminal virus attachment region, shaft and head domains, and a C-terminal galectin domain connected to the head by an RGD-containing sequence. The crystal structure of the head domain is similar to previously solved adenovirus fiber head domains, but specific residues for binding the coxsackievirus and adenovirus receptor (CAR), CD46, or sialic acid are not conserved. The structure of the galectin domain reveals an interaction interface between its two carbohydrate recognition domains, locating both sugar binding sites face to face. Sequence evidence suggests other tandem-repeat galectins have the same arrangement. We show that the galectin domain binds carbohydrates containing lactose and N-acetyl-lactosamine units, and we present structures of the galectin domain with lactose, N-acetyl-lactosamine, 3-aminopropyl-lacto-N-neotetraose, and 2-aminoethyl-tri(N-acetyl-lactosamine), confirming the domain as a bona fide galectin domain. PMID:20686025

  9. Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.

    PubMed

    Robaszkiewicz, Katarzyna; Dudek, Elżbieta; Kasprzak, Andrzej A; Moraczewska, Joanna

    2012-10-01

    Missense mutations in human TPM3 gene encoding γ-tropomyosin expressed in slow muscle type 1 fibers, were associated with three types of congenital myopathies-nemaline myopathy, cap disease and congenital fiber type disproportion. Functional effects of the following substitutions: Leu100Met, Ala156Thr, Arg168His, Arg168Cys, Arg168Gly, Lys169Glu, and Arg245Gly, were examined in biochemical assays using recombinant tropomyosin mutants and native proteins isolated from skeletal muscle. Most, but not all, mutations decreased the affinity of tropomyosin for actin alone and in complex with troponin (±Ca(2+)). All studied tropomyosin mutants reduced Ca-induced activation but had no effect on the inhibition of actomyosin cross-bridges. Ca(2+)-sensitivity of the actomyosin interactions, as well as cooperativity of myosin-induced activation of the thin filament was affected by individual tropomyosin mutants with various degrees. Decreased motility of the reconstructed thin filaments was a result of combined functional defects caused by myopathy-related tropomyosin mutants. We conclude that muscle weakness and structural abnormalities observed in TPM3-related congenital myopathies result from reduced capability of the thin filament to fully activate actin-myosin cross-bridges. PMID:22749829

  10. Identification of three new mutations in the NADH-cytochrome b5 reductase gene responsible for recessive congenital methemoglobinemia type II

    SciTech Connect

    Mota-Vieira, L.; Kaplan, J.C.; Kahn, A.; Leroux, A.

    1994-09-01

    Recessive congenital methemoglobinemia (RCM; McKusick N{degrees}25800) due to NADH-cytochrome b5 reductase (cytb5r) deficiency leads to two different types of diseases: in type I form, cyanosis is the only symptom and the enzyme is only defective in red blood cells; in type II form, cyanosis is associated with severe mental retardation and neurological impairment and the enzyme defect is systemic. We have identified three new molecular defects in two unrelated patients with type II RCM. A homozygous C{r_arrow}T transition in codon 218 (Arg) was detected in the cDNA of one patient, resulting in a premature stop codon (TGA) in exon 8. Restriction enzyme analysis of genomic DNA confirmed the homozygosity of the propositus and heterozygosity for an identical defect in both parents. The second patient was found to be a compound heterozygote, carrying two different mutant alleles in the cyb5r gene. One allele presented a missense mutation (T{r_arrow}C) with substitution of Cys-203 (TGC) by Arg (CGC) in exon 7. The second allele showed a 3 bp deletion of nucleotides 815-817 of the cDNA. The CTG ATG sequence at position 814-819 in exon 9 coding for Leu-271 and Met-272 was replaced by the CTG triplet, with conservation of the Leu-271 and loss of the Met-272. To our knowledge, these are the first examples of a homozygous nonsense mutation and of a compound heterozygous mutation detected in the cytb5r gene. This finding supports the diversity of genetic defects in the cytb5r gene leading to the severe form of the disease.

  11. The effects of short-term exercise training on peak-torque are time- and fiber-type dependent.

    PubMed

    Ureczky, Dóra; Vácz, Gabriella; Costa, Andreas; Kopper, Bence; Lacza, Zsombor; Hortobágyi, Tibor; Tihanyi, József

    2014-08-01

    We examined the susceptibility of fast and slow twitch muscle fibers in the quadriceps muscle to eccentric exercise-induced muscle damage. Nine healthy men (age: 22.5 ± 1.6 years) performed maximal eccentric quadriceps contractions at 120°·s-1 over a 120° of knee joint range of motion for 6 consecutive days. Biopsies were taken from the vastus lateralis muscle before repeated bouts of eccentric exercise on the third and seventh day. Immunohistochemical procedures were used to determine fiber composition and fibronectin activity. Creatine kinase (CK) and lactate dehydrogenase (LDH) were determined in serum. Average torque was calculated in each day for each subject. Relative to baseline, average torque decreased 37.4% till day 3 and increased 43.0% from the day 3 to day 6 (p < 0.001). Creatine kinase and LDH were 70.6 and 1.5 times higher on day 3 and 75.5 and 1.4 times higher on day 6. Fibronectin was found in fast fibers in subjects with high CK level on day 3 and 7 after exercise, but on day 7, fibronectin seemed in both slow and fast fibers except in muscles of 2 subjects with high fast fiber percentage. Peak torque and muscle fiber-type composition measured at baseline showed a strong positive association on day 3 (r = 0.76, p < 0.02) and strong negative association during recovery between day 3 and day 6 (r = -0.76, p < 0.02), and day 1 and day 6 (r = 0.84, p < 0.001). We conclude that the damage of fast fibers preceded the damage of slow fibers, and muscles with slow fiber dominance were more susceptible to repeated bouts of eccentric exercise than fast fiber dominance muscles. The data suggest that the responses to repeated bouts of eccentric exercise are fiber-type-dependent in the quadriceps muscle, which can be the basis for the design of individualized strength training protocols.

  12. Congenital hypothyroidism.

    PubMed

    Rastogi, Maynika V; LaFranchi, Stephen H

    2010-01-01

    Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL) and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter. In general, the prognosis

  13. High-frequency stimulation selectively blocks different types of fibers in frog sciatic nerve.

    PubMed

    Joseph, Laveeta; Butera, Robert J

    2011-10-01

    Conduction block using high-frequency alternating current (HFAC) stimulation has been shown to reversibly block conduction through various nerves. However, unlike simulations and experiments on myelinated fibers, prior experimental work in our lab on the sea-slug, Aplysia, found a nonmonotonic relationship between frequency and blocking thresholds in the unmyelinated fibers. To resolve this discrepancy, we investigated the effect of HFAC waveforms on the compound action potential of the sciatic nerve of frogs. Maximal stimulation of the nerve produces a compound action potential consisting of the A-fiber and C-fiber components corresponding to the myelinated and unmyelinated fibers' response. In our study, HFAC waveforms were found to induce reversible block in the A-fibers and C-fibers for frequencies in the range of 5-50 kHz and for amplitudes from 0.1-1 mA. Although the A-fibers demonstrated the monotonically increasing threshold behavior observed in published literature, the C-fibers displayed a nonmonotonic relationship, analogous to that observed in the unmyelinated fibers of Aplysia. This differential blocking behavior observed in myelinated and unmyelinated fibers during application of HFAC waveforms has diverse implications for the fields of selective stimulation and pain management.

  14. Strain and high-temperature discrimination using a Type II fiber Bragg grating and a miniature fiber Fabry-Perot interferometer.

    PubMed

    Jiang, Yajun; Yang, Dexing; Yuan, Yuan; Xu, Jian; Li, Dong; Zhao, Jianlin

    2016-08-10

    A novel method for simultaneous measurement of strain and high temperature using a Type II fiber Bragg grating (FBG) and a miniature fiber Fabry-Perot interferometer (MFFPI) is proposed. The MFFPI is produced by fusion splicing a short section of quartz capillary tube with two single-mode fibers, and then it is exposed by a focused femtosecond laser and a phase mask to inscribe a Type II FBG nearby. The reflection spectrum of this sensor is the superposition of the reflection spectrum of the FBG and the interference fringe of the MFFPI. This sensor shows perfect high-temperature and strain responses. Because of the different responses to the uniform variations of strain and temperature, by measuring the reflection peak of FBG and one of the interference dips of the MFFPI, strain and temperature can be simultaneously determined. The resolutions of this particular sensor in measuring strain and temperature are estimated to be ±8.4  μϵ and ±3.3°C, respectively, in the range from 0 to 1122 μϵ and from 23°C to 600°C.

  15. Strain and high-temperature discrimination using a Type II fiber Bragg grating and a miniature fiber Fabry-Perot interferometer.

    PubMed

    Jiang, Yajun; Yang, Dexing; Yuan, Yuan; Xu, Jian; Li, Dong; Zhao, Jianlin

    2016-08-10

    A novel method for simultaneous measurement of strain and high temperature using a Type II fiber Bragg grating (FBG) and a miniature fiber Fabry-Perot interferometer (MFFPI) is proposed. The MFFPI is produced by fusion splicing a short section of quartz capillary tube with two single-mode fibers, and then it is exposed by a focused femtosecond laser and a phase mask to inscribe a Type II FBG nearby. The reflection spectrum of this sensor is the superposition of the reflection spectrum of the FBG and the interference fringe of the MFFPI. This sensor shows perfect high-temperature and strain responses. Because of the different responses to the uniform variations of strain and temperature, by measuring the reflection peak of FBG and one of the interference dips of the MFFPI, strain and temperature can be simultaneously determined. The resolutions of this particular sensor in measuring strain and temperature are estimated to be ±8.4  μϵ and ±3.3°C, respectively, in the range from 0 to 1122 μϵ and from 23°C to 600°C. PMID:27534477

  16. Effect of various fiber types and choice feeding of fiber on performance, gut development, humoral immunity, and fiber preference in broiler chicks.

    PubMed

    Sadeghi, Amin; Toghyani, Majid; Gheisari, Abasali

    2015-11-01

    Two experiments were conducted to investigate the effect of fibrous materials with one single diet or by choice feeding on performance, intestinal morphology, immunity, and fiber preference in broiler chicks. In experiment 1, 240-day-old chicks (Ross 308) were assigned to one of 4 treatments, comprising 5 replicates per treatment in a completely randomized design. Dietary treatments included: a basal diet (control) or 30 g/kg sugar beet pulp (SBP), 30 g/kg rice hull (RH), or 30 g/kg equal combination of them (SBP/RH) added to the basal diet. Results showed SBP and SBP/RH impaired daily weight gain (DWG) in the growing period compared with control (P < 0.05). Additionally, chickens that received SBP had deteriorated FCR across the entire rearing period (P < 0.05). In comparison to control and SBP, supplementing SBP/RH significantly increased antibody titer against Newcastle disease virus (NDV; P < 0.05) at 23 d of age. Furthermore, SBP reduced duodenal and ileal villus height compared with control at 21 d of age. In experiment 2, a total of 240 chicks were allotted to 4 experimental treatments of feeding: 1) control; or choice feeding between 2) control and SBP (C-SBP); 3) control and RH (C-RH); 4) control and SBP/RH (C- SBP/RH). Results indicated that chicks had a tendency to use separate sources of fiber. RH was consumed lower than C-SBP/RH and C-SBP in starter and growing periods, respectively (P < 0.05). Chickens choice fed RH and SBP/RH had greater daily feed intake than control across 14 to 28 d of age (P < 0.05). However, DWG reduced in all fiber fed birds (P < 0.05) and resulted in impaired FCR in broilers of the C-SBP group (P < 0.05). In addition, choice feeding of SBP/RH increased antibody titer against NDV as compared with control and SBP (P < 0.05). In conclusion, fiber inclusion in both experiments impaired growth performance but an equal combination of fiber improved immunity. In addition, broilers had a tendency to use separate sources of fiber. PMID

  17. Effect of various fiber types and choice feeding of fiber on performance, gut development, humoral immunity, and fiber preference in broiler chicks.

    PubMed

    Sadeghi, Amin; Toghyani, Majid; Gheisari, Abasali

    2015-11-01

    Two experiments were conducted to investigate the effect of fibrous materials with one single diet or by choice feeding on performance, intestinal morphology, immunity, and fiber preference in broiler chicks. In experiment 1, 240-day-old chicks (Ross 308) were assigned to one of 4 treatments, comprising 5 replicates per treatment in a completely randomized design. Dietary treatments included: a basal diet (control) or 30 g/kg sugar beet pulp (SBP), 30 g/kg rice hull (RH), or 30 g/kg equal combination of them (SBP/RH) added to the basal diet. Results showed SBP and SBP/RH impaired daily weight gain (DWG) in the growing period compared with control (P < 0.05). Additionally, chickens that received SBP had deteriorated FCR across the entire rearing period (P < 0.05). In comparison to control and SBP, supplementing SBP/RH significantly increased antibody titer against Newcastle disease virus (NDV; P < 0.05) at 23 d of age. Furthermore, SBP reduced duodenal and ileal villus height compared with control at 21 d of age. In experiment 2, a total of 240 chicks were allotted to 4 experimental treatments of feeding: 1) control; or choice feeding between 2) control and SBP (C-SBP); 3) control and RH (C-RH); 4) control and SBP/RH (C- SBP/RH). Results indicated that chicks had a tendency to use separate sources of fiber. RH was consumed lower than C-SBP/RH and C-SBP in starter and growing periods, respectively (P < 0.05). Chickens choice fed RH and SBP/RH had greater daily feed intake than control across 14 to 28 d of age (P < 0.05). However, DWG reduced in all fiber fed birds (P < 0.05) and resulted in impaired FCR in broilers of the C-SBP group (P < 0.05). In addition, choice feeding of SBP/RH increased antibody titer against NDV as compared with control and SBP (P < 0.05). In conclusion, fiber inclusion in both experiments impaired growth performance but an equal combination of fiber improved immunity. In addition, broilers had a tendency to use separate sources of fiber.

  18. Two Types of Functionally Distinct Fiber Containing Structural Protein Complexes Are Produced during Infection of Adenovirus Serotype 5

    PubMed Central

    Zhang, Bo; Yan, Yuhua; Jin, Jie; Lin, Hongyu; Li, Zongyi; Zhang, Xiaoyan; Liu, Jin; Xi, Chao; Lieber, Andre; Fan, Xiaolong; Ran, Liang

    2015-01-01

    Adenoviruses are common pathogens. The localization of their receptors coxsackievirus and adenovirus receptor, and desmoglein-2 in cell-cell junction complexes between polarized epithelial cells represents a major challenge for adenovirus infection from the apical surface. Structural proteins including hexon, penton base and fiber are excessively produced in serotype 5 adenovirus (Ad5)-infected cells. We have characterized the composition of structural protein complexes released from Ad5 infected cells and their capacity in remodeling cell-cell junction complexes. Using T84 cells as a model for polarized epithelium, we have studied the effect of Ad5 structural protein complexes in remodeling cell-cell junctions in polarized epithelium. The initial Ad5 infection in T84 cell culture was inefficient. However, progressive distortion of cell-cell junction in association with fiber release was evident during progression of Ad5 infection. Incubation of T84 cell cultures with virion-free supernatant from Ad5 infected culture resulted in distortion of cell-cell junctions and decreased infectivity of Ad5-GFP vector. We used gel filtration chromatography to fractionate fiber containing virion–free supernatant from Ad5 infected culture supernatant. Fiber containing fractions were further characterized for their capacity to inhibit the infection of Ad5-GFP vector, their composition in adenovirus structural proteins using western blot and LC-MS/MS and their capacity in remolding cell-cell junctions. Fiber molecules in complexes containing penton base and hexon, or mainly hexon were identified. Only the fiber complexes with relatively high content of penton base, but not the fiber-hexon complexes with low penton base, were able to penetrate into T84 cells and cause distortion of cell-cell junctions. Our findings suggest that these two types of fiber complexes may play different roles in adenoviral infection. PMID:25723153

  19. Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding. alpha. -mannosidase II

    SciTech Connect

    Fukuda, M.N.; Masri, K.A. ); Dell, A. ); Luzzatto, L. ); Moremen, K.W. )

    1990-10-01

    Congenital dyserythropoietic anemia type II, or hereditary erythroblastic multinuclearity with a positive acidified-serum-lysis test (HEMPAS), is a genetic anemia in humans inherited by an autosomally recessive mode. The enzyme defect in most HEMPAS patients has previously been proposed as a lowered activity of N-acetylglucosaminyltransferase II, resulting in a lack of polylactosamine on proteins and leading to the accumulation of polylactosaminyl lipids. A recent HEMPAS case, G.C., has now been analyzed by cell-surface labeling, fast-atom-bombardment mass spectrometry of glycopeptides, and activity assay of glycosylation enzymes. Significantly decreased glycosylation of polylactosaminoglycan proteins and incompletely processed asparagine-linked oligosaccharides were detected in the erythrocyte membranes of G.C. These results suggest that G.C. cells contain a mutation in {alpha}-ManII-encoding gene that results in inefficient expression of {alpha}-ManII mRNA, either through reduced transcription or message instability. This report demonstrates that HEMPAS is caused by a defective gene encoding an enzyme necessary for the synthesis of asparagine-linked oligosaccharides.

  20. Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

    PubMed

    Desai, Jigar; Velo, Marie Pia Rogines; Yamada, Koki; Overman, Lynne M; Engle, Elizabeth C

    2012-01-01

    Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a rare inherited strabismus syndrome characterized by non-progressive ophthalmoplegia. We previously identified that CFEOM1 results from heterozygous missense mutations in KIF21A, which encodes a kinesin motor protein. Here we evaluate the expression pattern of KIF21A in human brain and muscles of control and CFEOM1 patients, and during human and mouse embryonic development. KIF21A is expressed in the cell bodies, axons, and dendrites of many neuronal populations including those in the hippocampus, cerebral cortex, cerebellum, striatum, and motor neurons of the oculomotor, trochlear, and abducens nuclei from early development into maturity, and its spatial distribution is not altered in the CFEOM1 tissues available for study. Multiple splice isoforms of KIF21A are identified in human fetal brain, but none of the reported CFEOM1 mutations are located in or near the alternatively spliced exons. KIF21A immunoreactivity is also observed in extraocular and skeletal muscle biopsies of control and CFEOM1 patients, where it co-localizes with triadin, a marker of the excitation-contractile coupling system. The diffuse and widespread expression of KIF21A in the developing human and mouse central and peripheral nervous system as well as in extraocular muscle does not account for the restricted ocular phenotype observed in CFEOM1, nor does it permit the formal exclusion of a myogenic etiology based on expression patterns alone. PMID:22465342

  1. Cognition and Adaptive Skills in Myotonic Dystrophy Type 1: A Study of 55 Individuals with Congenital and Childhood Forms

    ERIC Educational Resources Information Center

    Ekstrom, Anne-Berit; Hakenas-Plate, Louise; Tulinius, Mar; Wentz, Elisabet

    2009-01-01

    Aims: To investigate cognitive abilities and adaptive skills in children and adolescents with myotonic dystrophy type 1 (DM1) and correlate the findings to the cytosine-thymine-guanine (CTG) repeat expansion size. Method: Cognitive level was assessed in 55 children and adolescents with DM1 (31 males, 24 females; mean age 12y 1mo, SD 5y 1mo; range…

  2. Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

    PubMed Central

    Logan, Clare V.; Cossins, Judith; Rodríguez Cruz, Pedro M.; Parry, David A.; Maxwell, Susan; Martínez-Martínez, Pilar; Riepsaame, Joey; Abdelhamed, Zakia A.; Lake, Alice V.R.; Moran, Maria; Robb, Stephanie; Chow, Gabriel; Sewry, Caroline; Hopkins, Philip M.; Sheridan, Eamonn; Jayawant, Sandeep; Palace, Jacqueline; Johnson, Colin A.; Beeson, David

    2015-01-01

    The neuromuscular junction (NMJ) consists of a tripartite synapse with a presynaptic nerve terminal, Schwann cells that ensheathe the terminal bouton, and a highly specialized postsynaptic membrane. Synaptic structural integrity is crucial for efficient signal transmission. Congenital myasthenic syndromes (CMSs) are a heterogeneous group of inherited disorders that result from impaired neuromuscular transmission, caused by mutations in genes encoding proteins that are involved in synaptic transmission and in forming and maintaining the structural integrity of NMJs. To identify further causes of CMSs, we performed whole-exome sequencing (WES) in families without an identified mutation in known CMS-associated genes. In two families affected by a previously undefined CMS, we identified homozygous loss-of-function mutations in COL13A1, which encodes the alpha chain of an atypical non-fibrillar collagen with a single transmembrane domain. COL13A1 localized to the human muscle motor endplate. Using CRISPR-Cas9 genome editing, modeling of the COL13A1 c.1171delG (p.Leu392Sfs∗71) frameshift mutation in the C2C12 cell line reduced acetylcholine receptor (AChR) clustering during myotube differentiation. This highlights the crucial role of collagen XIII in the formation and maintenance of the NMJ. Our results therefore delineate a myasthenic disorder that is caused by loss-of-function mutations in COL13A1, encoding a protein involved in organization of the NMJ, and emphasize the importance of appropriate symptomatic treatment for these individuals. PMID:26626625

  3. Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

    PubMed

    Logan, Clare V; Cossins, Judith; Rodríguez Cruz, Pedro M; Parry, David A; Maxwell, Susan; Martínez-Martínez, Pilar; Riepsaame, Joey; Abdelhamed, Zakia A; Lake, Alice V R; Moran, Maria; Robb, Stephanie; Chow, Gabriel; Sewry, Caroline; Hopkins, Philip M; Sheridan, Eamonn; Jayawant, Sandeep; Palace, Jacqueline; Johnson, Colin A; Beeson, David

    2015-12-01

    The neuromuscular junction (NMJ) consists of a tripartite synapse with a presynaptic nerve terminal, Schwann cells that ensheathe the terminal bouton, and a highly specialized postsynaptic membrane. Synaptic structural integrity is crucial for efficient signal transmission. Congenital myasthenic syndromes (CMSs) are a heterogeneous group of inherited disorders that result from impaired neuromuscular transmission, caused by mutations in genes encoding proteins that are involved in synaptic transmission and in forming and maintaining the structural integrity of NMJs. To identify further causes of CMSs, we performed whole-exome sequencing (WES) in families without an identified mutation in known CMS-associated genes. In two families affected by a previously undefined CMS, we identified homozygous loss-of-function mutations in COL13A1, which encodes the alpha chain of an atypical non-fibrillar collagen with a single transmembrane domain. COL13A1 localized to the human muscle motor endplate. Using CRISPR-Cas9 genome editing, modeling of the COL13A1 c.1171delG (p.Leu392Sfs(∗)71) frameshift mutation in the C2C12 cell line reduced acetylcholine receptor (AChR) clustering during myotube differentiation. This highlights the crucial role of collagen XIII in the formation and maintenance of the NMJ. Our results therefore delineate a myasthenic disorder that is caused by loss-of-function mutations in COL13A1, encoding a protein involved in organization of the NMJ, and emphasize the importance of appropriate symptomatic treatment for these individuals. PMID:26626625

  4. Breakthrough curves for toluene adsorption on different types of activated carbon fibers: application in respiratory protection.

    PubMed

    Balanay, Jo Anne G; Floyd, Evan L; Lungu, Claudiu T

    2015-05-01

    Activated carbon fibers (ACF) are considered viable alternative adsorbent materials in respirators because of their larger surface area, lighter weight, and fabric form. The purpose of this study was to characterize the breakthrough curves of toluene for different types of commercially available ACFs to understand their potential service lives in respirators. Two forms of ACF, cloth (AC) and felt (AF), with three surface areas each were tested. ACFs were challenged with six toluene concentrations (50-500 p.p.m.) at constant air temperature (23°C), relative humidity (50%), and air flow (16 l min-1) at different bed depths. Breakthrough data were obtained using continuous monitoring by gas chromatography using a gas sampling valve. The ACF specific surface areas were measured by an automatic physisorption analyzer. Results showed unique shapes of breakthrough curves for each ACF form: AC demonstrated a gradual increase in breakthrough concentration, whereas AF showed abrupt increase in concentration from the breakpoint, which was attributed to the difference in fiber density between the forms. AF has steeper breakthrough curves compared with AC with similar specific surface area. AC exhibits higher 10% breakthrough times for a given bed depth due to higher mass per bed depth compared with AF, indicating more adsorption per bed depth with AC. ACF in respirators may be appropriate for use as protection in environments with toluene concentration at the Occupational Safety and Health Administration Permissible Exposure Limit, or during emergency escape for higher toluene concentrations. ACF has shown great potential for application in respiratory protection against toluene and in the development of thinner, lighter, and more efficient respirators. PMID:25528579

  5. Breakthrough curves for toluene adsorption on different types of activated carbon fibers: application in respiratory protection.

    PubMed

    Balanay, Jo Anne G; Floyd, Evan L; Lungu, Claudiu T

    2015-05-01

    Activated carbon fibers (ACF) are considered viable alternative adsorbent materials in respirators because of their larger surface area, lighter weight, and fabric form. The purpose of this study was to characterize the breakthrough curves of toluene for different types of commercially available ACFs to understand their potential service lives in respirators. Two forms of ACF, cloth (AC) and felt (AF), with three surface areas each were tested. ACFs were challenged with six toluene concentrations (50-500 p.p.m.) at constant air temperature (23°C), relative humidity (50%), and air flow (16 l min-1) at different bed depths. Breakthrough data were obtained using continuous monitoring by gas chromatography using a gas sampling valve. The ACF specific surface areas were measured by an automatic physisorption analyzer. Results showed unique shapes of breakthrough curves for each ACF form: AC demonstrated a gradual increase in breakthrough concentration, whereas AF showed abrupt increase in concentration from the breakpoint, which was attributed to the difference in fiber density between the forms. AF has steeper breakthrough curves compared with AC with similar specific surface area. AC exhibits higher 10% breakthrough times for a given bed depth due to higher mass per bed depth compared with AF, indicating more adsorption per bed depth with AC. ACF in respirators may be appropriate for use as protection in environments with toluene concentration at the Occupational Safety and Health Administration Permissible Exposure Limit, or during emergency escape for higher toluene concentrations. ACF has shown great potential for application in respiratory protection against toluene and in the development of thinner, lighter, and more efficient respirators.

  6. Sensing interrogation technique for fiber-optic interferometer type of sensors based on a single-passband RF filter.

    PubMed

    Chen, Hao; Zhang, Shiwei; Fu, Hongyan; Zhou, Bin; Chen, Nan

    2016-02-01

    In this paper, a sensing interrogation system for fiber-optic interferometer type of sensors by using a single-passband radio-frequency (RF) filter has been proposed and experimentally demonstrated. The fiber-optic interferometer based sensors can give continuous optical sampling, and along with dispersive medium a single-passband RF frequency response can be achieved. The sensing parameter variation on the fiber-optic interferometer type of sensors will affect their free spectrum range, and thus the peak frequency of the RF filter. By tracking the central frequency of the passband the sensing parameter can be demodulated. As a demonstration, in our experiment a fiber Mach-Zehnder interferometer (FMZI) based temperature sensor has been interrogated. By tracking the peak frequency of the passband the temperature variation can be monitored. In our experiment, the sensing responsivity of 10.5 MHz/°C, 20.0 MHz/°C and 41.2 MHz/°C, when the lengths of sensing fiber are 1 m, 2 m and 4 m have been achieved.

  7. Relation between cycling exercise capacity, fiber-type composition, and lower extremity muscle strength and muscle endurance.

    PubMed

    Segerström, Asa B; Holmbäck, Anna M; Hansson, Ola; Elgzyri, Targ; Eriksson, Karl-Fredrik; Ringsberg, Karin; Groop, Leif; Wollmer, Per; Thorsson, Ola

    2011-01-01

    The aim of the study was to determine the relation between peak oxygen uptake V(O2)peak), peak work rate (WRpeak), fiber-type composition, and lower extremity strength and endurance during a maximal incremental cycle test. Thirty-nine healthy sedentary men, aged 30-46, participated in the study. Subjects performed a maximal incremental cycle test and isokinetic knee extension (KE) and flexion (KF) strength and endurance tests at velocities of 60 and 180° · s(-1). Muscle biopsies were taken from m. vastus lateralis and analyzed for fiber-type composition. A significant correlation existed between KE strength and V(O2)peak and WRpeak. Also, KF endurance correlated significantly to V(O2)peak and WRpeak. The KE endurance correlated significantly to WRpeak (rp = 0.32, p < 0.05) and almost significantly to V(O2)peak (rp = 0.28, p = 0.06). Stepwise multiple regression analyses showed that KE strength, KF endurance, and the percentage of type I fibers could explain up to 40% of the variation in V(O2) and WRpeak. The performance of sedentary subjects in a maximal incremental cycle test is highly affected by knee muscle strength and endurance. Fiber-type composition also contributes but to a smaller extent.

  8. Hollow fiber integrated microfluidic platforms for in vitro Co-culture of multiple cell types.

    PubMed

    Huang, Jen-Huang; Harris, Jennifer F; Nath, Pulak; Iyer, Rashi

    2016-10-01

    This study demonstrates a rapid prototyping approach for fabricating and integrating porous hollow fibers (HFs) into microfluidic device. Integration of HF can enhance mass transfer and recapitulate tubular shapes for tissue-engineered environments. We demonstrate the integration of single or multiple HFs, which can give the users the flexibility to control the total surface area for tissue development. We also present three microfluidic designs to enable different co-culture conditions such as the ability to co-culture multiple cell types simultaneously on a flat and tubular surface, or inside the lumen of multiple HFs. Additionally, we introduce a pressurized cell seeding process that can allow the cells to uniformly adhere on the inner surface of HFs without losing their viabilities. Co-cultures of lung epithelial cells and microvascular endothelial cells were demonstrated on the different platforms for at least five days. Overall, these platforms provide new opportunities for co-culturing of multiple cell types in a single device to reconstruct native tissue micro-environment for biomedical and tissue engineering research. PMID:27613401

  9. Research on a new type of fiber Bragg grating based corrosion sensor

    NASA Astrophysics Data System (ADS)

    Li, Peng; Song, Shide; Wang, Xiaona; Zhou, Weijie; Zhang, Zuocai

    2015-08-01

    Investigations of the corrosion of rebars in concrete structures are widely studied because of the serious damage to concrete caused by rebar corrosion. The rebar corrosion products in reinforced concrete take up 2~6 times the volume of the rebar. Based on this principle, a new type of fiber Bragg grating (FBG) corrosion sensor is proposed in this paper, which consists of two sensors, an FBG corrosion measurement sensor to measure the expansion strain caused by rebar corrosion, and a temperature compensation sensor to eliminate the cross-sensitivity of FBG corrosion sensor. The corrosion rate is derived by the wavelength shift of FBG corrosion sensor, so rebar corrosion can be monitored and assessed by the FBG wavelength shift. A customized rebar with epoxy fixing groove is designed to install a corrosion sensor on its surface and an embedded temperature compensation sensor. The corrosion sensor is embedded in cement mortar and subsequently casted in concrete. The performance of the corrosion sensor is studied in an accelerated electrochemical corrosion test. Experimental results show that the new type of corrosion sensor has advantage of relatively large measurement range of corrosion rate. The corrosion sensor is suitable to monitor slightly and moderately corroded rebars.

  10. Congenital Anomalies of the Limbs

    PubMed Central

    Gingras, G.; Mongeau, M.; Moreault, P.; Dupuis, M.; Hebert, B.; Corriveau, C.

    1964-01-01

    As a preparatory step towards the development of a complete habilitation program for children with congenital limb anomalies associated with maternal ingestion of thalidomide, the medical records of all patients with congenital limb anomalies referred to the Rehabilitation Institute of Montreal in the past decade were studied, and an examination and a thorough reassessment were made of 41 patients (21 males and 20 females). In this paper, Part I, the medical and prosthetic aspects are dealt with and a form of management is described for each type of anomaly. The conclusions are reached that prosthetic fitting and training should be initiated very early in life and that co-operation of the parent is essential to successful habilitation of a child with congenital limb anomalies. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7 PMID:14154297

  11. Congenital hypothyroidism.

    PubMed

    Abduljabbar, Mohammad A; Afifi, Ashraf M

    2012-01-01

    Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. Babies with CH who are not identified and treated promptly develop severe mental retardation. Most of the babies with CH do not manifest the typical known signs and symptoms of hypothyroidism, and this is most likely due to transplacental passage of some maternal thyroid hormone in addition to some residual neonatal thyroid function, as might be seen with thyroid hypoplasia, an ectopic gland, or mild dyshormonogenesis. Screening for CH has enabled the virtual eradication of the devastating effects of mental retardation due to sporadic CH in most developed countries of the world. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Permanent CH refers to a persistent deficiency of thyroid hormone that requires life-long treatment. Transient CH refers to a temporary deficiency of thyroid hormone that is discovered at birth but recovers to normal in the first few months or years of life. In the last several decades, there have been exciting advances in our understanding of fetal and neonatal thyroid physiology. In addition, advances in molecular biology have helped in understanding the early events in thyroid gland embryogenesis, mechanisms of thyroid action in the brain, the molecular basis for many of the inborn errors of thyroid hormonogenesis, and thyroid hormone action. However, many questions and challenges are still not answered. For example, the increasing numbers of surviving small and premature neonates with abnormalities in thyroid function need definite diagnostic criteria and whether they require medical therapy. Another challenge is the dilemma of finding the best screening methodology that is sensitive and cost effective. PMID:22570946

  12. Congenital myopathies

    PubMed Central

    Colombo, Irene; Scoto, Mariacristina; Manzur, Adnan Y.; Robb, Stephanie A.; Maggi, Lorenzo; Gowda, Vasantha; Cullup, Thomas; Yau, Michael; Phadke, Rahul; Sewry, Caroline; Jungbluth, Heinz

    2015-01-01

    Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012. Results: Genetic characterization was achieved in 99 of 125 cases (79.2%), with RYR1 most frequently implicated (44/125). Neonatal/infantile onset was observed in 76%. At birth, 30.4% required respiratory support, and 25.2% nasogastric feeding. Twelve percent died, mainly within the first year, associated with mutations in ACTA1, MTM1, or KLHL40. All RYR1-mutated cases survived and did not require long-term ventilator support including those with severe neonatal onset; however, recessive cases were more likely to require gastrostomy insertion (p = 0.0028) compared with dominant cases. Independent ambulation was achieved in 74.1% of all patients; 62.9% were late walkers. Among ambulant patients, 9% eventually became wheelchair-dependent. Scoliosis of variable severity was reported in 40%, with 1/3 of (both ambulant and nonambulant) patients requiring surgery. Bulbar involvement was present in 46.4% and required gastrostomy placement in 28.8% (at a mean age of 2.7 years). Respiratory impairment of variable severity was a feature in 64.1%; approximately half of these patients required nocturnal noninvasive ventilation due to respiratory failure (at a mean age of 8.5 years). Conclusions: We describe the long-term outcome of a large cohort of patients with CMs. While overall course is stable, we demonstrate a wide clinical spectrum with motor deterioration in a subset of cases. Severity in the neonatal/infantile period is critical for survival, with clear genotype-phenotype correlations that may inform future counseling. PMID:25428687

  13. Air backed mandrel type fiber optic hydrophone with low noise floor

    NASA Astrophysics Data System (ADS)

    Rajesh, R.; V, Sreehari C.; N, Praveen Kumar; Awasthi, R. L.; K, Vivek; B, Vishnu M.; Santhanakrishnan, T.; Moosad, K. P. B.; Mathew, Basil

    2014-10-01

    Low noise fiber optic hydrophone based on optical fiber coil wound on air-backed mandrel was developed. The sensor can be effectively used for underwater acoustic sensing. The design and characterization of the hydrophone is illustrated in this paper. A fiber Mach-Zehnder Interferometer (MZI) was developed and coupled with a Distributed Feedback (DFB) fiber laser source and an optical phase demodulation system, with an active modulation in one of the arms. The sensor head design was optimized to achieve noise spectral density <10 μrad/√Hz, for yielding sufficient sensitivity to sense acoustic pressure close to Deep Sea Sate Zero (DSS0).

  14. Contractile properties, fiber types, and myosin isoforms in fast and slow muscles of hyperactive Japanese waltzing mice.

    PubMed

    Asmussen, Gerhard; Schmalbruch, Ina; Soukup, Tomás; Pette, Dirk

    2003-12-01

    This study focuses on the effects of neuromuscular hyperactivity on the contractile properties, fiber type composition, and myosin heavy chain (MHC) isoform expression of fast-twitch extensor digitorum longus (EDL) and slow-twitch soleus (SOL) muscles in Japanese waltzing mice (JWM) of the C57BL/6J-v2J strain. The same properties were studied in the homologous muscle of control CBA/J mice (CM). In comparison to CM, the JWM exhibited (i) longer activity periods, prolonged bouts of running and a higher food intake, (ii) slower twitch and tetanic contractions of both EDL and SOL muscles, decreased cold and post-tetanic potentiation of the EDL, as well as increased cold and post-tetanic depressions of the SOL. Electrophoretic analyses of MHC isoform revealed a shift toward slower isoforms in both EDL and SOL muscles of JWM as compared to the homologous muscles of CM, namely, a shift from the fastest MHCIIb to the MHCIId/x isoform in the EDL muscle and a shift from MHCIIa to MHCI in the SOL muscle. The latter also contained a higher percentage of type I fibers and displayed a higher capillary density than the SOL muscle of CM. These findings show that the inherently enhanced motor activity of the JWM leads to fiber type transitions in the direction of slower phenotypes. JWM thus represent a suitable model for studying fast-to-slow fiber transitions under the influence of spontaneous motor hyperactivity.

  15. A meta-analysis of asbestos-related cancer risk that addresses fiber size and mineral type.

    PubMed

    Berman, D Wayne; Crump, Kenny S

    2008-01-01

    Quantitative estimates of the risk of lung cancer or mesothelioma in humans from asbestos exposure made by the U.S. Environmental Protection Agency (EPA) make use of estimates of potency factors based on phase-contrast microscopy (PCM) and obtained from cohorts exposed to asbestos in different occupational environments. These potency factors exhibit substantial variability. The most likely reasons for this variability appear to be differences among environments in fiber size and mineralogy not accounted for by PCM. In this article, the U.S. Environmental Protection Agency (EPA) models for asbestos-related lung cancer and mesothelioma are expanded to allow the potency of fibers to depend upon their mineralogical types and sizes. This is accomplished by positing exposure metrics composed of nonoverlapping fiber categories and assigning each category its own unique potency. These category-specific potencies are estimated in a meta-analysis that fits the expanded models to potencies for lung cancer (KL's) or mesothelioma (KM's) based on PCM that were calculated for multiple epidemiological studies in our previous paper (Berman and Crump, 2008). Epidemiological study-specific estimates of exposures to fibers in the different fiber size categories of an exposure metric are estimated using distributions for fiber size based on transmission electron microscopy (TEM) obtained from the literature and matched to the individual epidemiological studies. The fraction of total asbestos exposure in a given environment respectively represented by chrysotile and amphibole asbestos is also estimated from information in the literature for that environment. Adequate information was found to allow KL's from 15 epidemiological studies and KM's from 11 studies to be included in the meta-analysis. Since the range of exposure metrics that could be considered was severely restricted by limitations in the published TEM fiber size distributions, it was decided to focus attention on four

  16. Congenital Intralabyrinthine Cholesteatoma

    PubMed Central

    Prasad, Sanjay; Prasad, Kiran; Azadarmaki, Roya

    2014-01-01

    A patient with a congenital intralabyrinthine cholesteatoma is presented. High-resolution computerized tomographic scans and intraoperative photomicrographs display features of intralabyrinthine extension. We discuss pathogenetic theories for the development of congenital intralabyrinthine cholesteatoma. The distinction of this condition from congenital cholesteatoma with labyrinthine erosion is discussed. PMID:25057421

  17. 2 kW average power from a pulsed Yb-doped rod-type fiber amplifier.

    PubMed

    Otto, Hans-Jürgen; Stutzki, Fabian; Modsching, Norbert; Jauregui, Cesar; Limpert, Jens; Tünnermann, Andreas

    2014-11-15

    This Letter reports on a fiber-laser system that, employing a 1 m long rod-type photonic-crystal fiber as its main-amplifier, emits a record average output power of 2 kW, by amplifying stretched ps-pulses. A further increase of the output power was only limited by the available laser-diode pump power. The energy of the pulses is 100 μJ, corresponding to MW-level peak powers extracted directly from the fiber of the main amplifier. The corresponding M2 at the maximum output power is <3, due to the onset of mode instabilities. The Letter covers the influence of this effect on the evolution of the beam quality with the output power. The numerical results show that the M2 value settles at around 3, even if the output average power is further increased. PMID:25490490

  18. 16 CFR 303.10 - Fiber content of special types of products.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... Acetate. 50 percent Cotton. Elastic: Rayon, cotton, nylon, rubber. (b) Where drapery or upholstery fabrics... last, as for example: Rayon Wool Acetate Metallic Other fibers (c)(1) Where a manufactured textile...% Rayon (4) All of the provisions as to fiber content disclosures contained in the Act and...

  19. 16 CFR 303.10 - Fiber content of special types of products.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... Acetate. 50 percent Cotton. Elastic: Rayon, cotton, nylon, rubber. (b) Where drapery or upholstery fabrics... last, as for example: Rayon Wool Acetate Metallic Other fibers (c)(1) Where a manufactured textile...% Rayon (4) All of the provisions as to fiber content disclosures contained in the Act and...

  20. 16 CFR 303.10 - Fiber content of special types of products.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... Acetate. 50 percent Cotton. Elastic: Rayon, cotton, nylon, rubber. (b) Where drapery or upholstery fabrics... last, as for example: Rayon Wool Acetate Metallic Other fibers (c)(1) Where a manufactured textile...% Rayon (4) All of the provisions as to fiber content disclosures contained in the Act and...

  1. 16 CFR 303.10 - Fiber content of special types of products.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... Acetate. 50 percent Cotton. Elastic: Rayon, cotton, nylon, rubber. (b) Where drapery or upholstery fabrics... last, as for example: Rayon Wool Acetate Metallic Other fibers (c)(1) Where a manufactured textile...% Rayon (4) All of the provisions as to fiber content disclosures contained in the Act and...

  2. 16 CFR 303.10 - Fiber content of special types of products.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... Acetate. 50 percent Cotton. Elastic: Rayon, cotton, nylon, rubber. (b) Where drapery or upholstery fabrics... last, as for example: Rayon Wool Acetate Metallic Other fibers (c)(1) Where a manufactured textile...% Rayon (4) All of the provisions as to fiber content disclosures contained in the Act and...

  3. Architecture of the subendothelial elastic fibers of small blood vessels and variations in vascular type and size.

    PubMed

    Shinaoka, Akira; Momota, Ryusuke; Shiratsuchi, Eri; Kosaka, Mitsuko; Kumagishi, Kanae; Nakahara, Ryuichi; Naito, Ichiro; Ohtsuka, Aiji

    2013-04-01

    Most blood vessels contain elastin that provides the vessels with the resilience and flexibility necessary to control hemodynamics. Pathophysiological hemodynamic changes affect the remodeling of elastic components, but little is known about their structural properties. The present study was designed to elucidate, in detail, the three-dimensional (3D) architecture of delicate elastic fibers in small vessels, and to reveal their architectural pattern in a rat model. The fine vascular elastic components were observed by a newly developed scanning electron microscopy technique using a formic acid digestion with vascular casts. This method successfully visualized the 3D architecture of elastic fibers in small blood vessels, even arterioles and venules. The subendothelial elastic fibers in such small vessels assemble into a sheet of meshwork running longitudinally, while larger vessels have a higher density of mesh and thicker mesh fibers. The quantitative analysis revealed that arterioles had a wider range of mesh density than venules; the ratio of density to vessel size was higher than that in venules. The new method was useful for evaluating the subendothelial elastic fibers of small vessels and for demonstrating differences in the architecture of different types of vessels.

  4. Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.

    PubMed

    Citirak, Gülsenay; Witting, Nanna; Duno, Morten; Werlauff, Ulla; Petri, Helle; Vissing, John

    2014-04-01

    Congenital myopathies are difficult to classify correctly through molecular testing due to the size and heterogeneity of the genes involved. Therefore, the prevalence of the various genetic causes of congenital myopathies is largely unknown. In our cohort of 94 patients with congenital myopathy, two related female patients and two sporadic, male patients were found to carry mutations in the tropomyosin 2 (TPM2) and tropomyosin 3 (TPM3) genes, respectively. This indicates a low (4.3%) frequency of TPM2 and TPM3 mutations as a cause of congenital myopathy. Compared to previously described patients carrying the same mutations as found in our study (c.503G>A, and c.502C>T in TPM3, and c.415_417delGAG in TPM2), clinical presentation and muscle morphological findings differed in our patients. Differences included variation in distribution of muscle weakness, presence of scoliosis and ptosis, physical performance and joint contractures. The variation in clinical profiles emphasizes the phenotypic heterogeneity. However, common features were also present, such as onset of symptoms in infancy or childhood, musculoskeletal deformities and normal or low plasma levels of creatine kinase. One patient had nemaline myopathy and fiber size disproportion, while three patients had congenital fiber type disproportion (CFTD) on muscle biopsies. TPM2-related CFTD has only been described in two cases, indicating that mutations in TPM2 are rare causes of CFTD. PMID:24507666

  5. South African experience with asbestos related environmental mesothelioma: is asbestos fiber type important?

    PubMed

    White, Neil; Nelson, Gill; Murray, Jill

    2008-10-01

    South Africa (SA), a country in which all three commercially important asbestos minerals have been mined and milled, has retained proven cases of mesothelioma linked with environmental exposure to asbestos. This study illustrates the importance of fiber type in the occurrence of environmental mesothelioma. Four studies have reviewed the source of occupational or environmental asbestos exposure in 504 histologically proven cases of mesothelioma in South Africa. One hundred and eighteen cases (23%) were thought to be related to environmental exposure to asbestos. In the vast majority of these cases, exposure was linked to crocidolite mining activities in the Northern Cape Province. Two cases were thought to have occurred in relation to amosite and Transvaal crocidolite exposure in the Limpopo Province. In the balance of cases there was some uncertainty. No cases were reported with exposure to South African chrysotile. Consequently, in the vast majority of cases of mesothelioma, environmental exposure to asbestos occurred in the Northern Cape Province, in proximity to mines, mills and dumps where crocidolite was processed. Crocidolite appears to be far more mesotheliomagenic than amosite, and chrysotile has not been implicated in the disease. This is true for both occupationally and environmentally exposed individuals.

  6. [Medicinal chemistry and pharmacology focused on cannabidiol, a major component of the fiber-type cannabis].

    PubMed

    Takeda, Shuso

    2013-01-01

    Considerable attention has focused on cannabidiol (CBD), a major non-psychotropic constituent of fiber-type cannabis plant, and it has been reported to possess diverse biological activities. Although CBD is obtained from non-enzymatic decarboxylation of its parent molecule, cannabidiolic acid (CBDA), several studies have investigated whether CBDA itself is biologically active. In the present report, the author summarizes findings indicating that; 1) CBDA is a selective cyclooxygenase-2 (COX-2) inhibitor, and ii) CBDA possesses an anti-migrative potential for highly invasive cancer cells, apparently through a mechanism involving inhibition of cAMP-dependent protein kinase A, coupled with an activation of the small GTPase, RhoA. Further, the author introduces recent findings on the medicinal chemistry and pharmacology of the CBD derivative, CBD-2',6'-dimethyl ether (CBDD), that exhibits inhibitory activity toward 15-lipoxygenase (15-LOX), an enzyme responsible for the production of oxidized low-density lipoprotein (LDL). These studies establish CBD as both an important experimental tool and as a lead compound for pharmaceutical development. In this review, the author further discusses the potential uses of CBD and its derivatives in future medicines.

  7. Characterization of the knob domain of the adenovirus type 5 fiber protein expressed in Escherichia coli.

    PubMed Central

    Henry, L J; Xia, D; Wilke, M E; Deisenhofer, J; Gerard, R D

    1994-01-01

    The adenovirus fiber protein is used for attachment of the virus to a specific receptor on the cell surface. Structurally, the protein consists of a long, thin shaft that protrudes from the vertex of the virus capsid and terminates in a globular domain termed the knob. To verify that the knob is the domain which interacts with the cellular receptor, we have cloned and expressed the knob from adenovirus type 5 together with a single repeat of the shaft in Escherichia coli. The protein was purified by conventional chromatography and functionally characterized for its interaction with the adenovirus receptor. The recombinant knob domain bound about 4,700 sites per HeLa cell with an affinity of 3 x 10(9) M-1 and blocked adenovirus infection of human cells. Antibodies raised against the knob also blocked virus infection. By gel filtration and X-ray diffraction analysis of protein crystals, the knob was shown to consist of a homotrimer of 21-kDa subunits. The results confirm that the trimeric knob is the ligand for attachment to the adenovirus receptor. Images PMID:8035520

  8. Simulation and measurement of optical access network with different types of optical-fiber amplifiers

    NASA Astrophysics Data System (ADS)

    Latal, Jan; Vogl, Jan; Koudelka, Petr; Vitasek, Jan; Siska, Petr; Liner, Andrej; Papes, Martin; Vasinek, Vladimir

    2012-01-01

    The optical access networks are nowadays swiftly developing in the telecommunications field. These networks can provide higher data transfer rates, and have great potential to the future in terms of transmission possibilities. Many local internet providers responded to these facts and began gradually installing optical access networks into their originally built networks, mostly based on wireless communication. This allowed enlargement of possibilities for end-users in terms of high data rates and also new services such as Triple play, IPTV (Internet Protocol television) etc. However, with this expansion and building-up is also related the potential of reach in case of these networks. Big cities, such as Prague, Brno, Ostrava or Olomouc cannot be simply covered, because of their sizes and also because of their internal regulations given by various organizations in each city. Standard logical and also physical reach of EPON (IEEE 802.3ah - Ethernet Passive Optical Network) optical access network is about 20 km. However, for networks based on Wavelength Division Multiplex the reach can be up to 80 km, if the optical-fiber amplifier is inserted into the network. This article deals with simulation of different types of amplifiers for WDM-PON (Wavelength Division Multiplexing-Passive Optical Network) network in software application Optiwave OptiSystem and than are the values from the application and from real measurement compared.

  9. Adrenalectomy eliminates both fiber-type differences and starvation effects on denervated muscle.

    PubMed

    Almon, R R; Dubois, D C

    1988-12-01

    This report describes changes in muscle mass of innervated and denervated pairs of muscles taken from intact and adrenalectomized 250-g male Sprague-Dawley rats provided with different diets. Diets ranged from a nutritionally complete liquid diet to starvation (water only). In the intact animals, muscles with a more tonic character (soleus) are less sensitive to starvation than are muscles with a more phasic character (extensor digitorum longus), whereas the opposite is true of denervation. In the intact animals, starvation greatly increased the amount of atrophy following denervation. In the adrenalectomized animals, starvation had no effect on the amounts of atrophy following denervation. Furthermore, adrenalectomy virtually eliminated the fiber-type differences in the amount of atrophy following denervation. In addition, a comparison between denervated muscles from intact animals and adrenalectomized animals subjected to starvation demonstrates that all denervated muscles from the adrenalectomized animals atrophy less. Finally, it was observed that although an adrenalectomized animal can tolerate 6 days of starvation, an adrenalectomized-castrated animal cannot tolerate even short periods of starvation. The difference appears to be due to low amounts of corticosterone of testicular origin.

  10. Severe congenital actin related myopathy with myofibrillar myopathy features.

    PubMed

    Selcen, Duygu

    2015-06-01

    Mutations in ACTA1 have been associated with different pathologic findings including nemaline myopathy, intranuclear rod myopathy, actin myopathy, cap myopathy, congenital fiber type disproportion, and core myopathy. Myofibrillar myopathies are morphologically distinct but genetically heterogeneous muscular dystrophies arising from mutations in Z-disk related proteins. We report a 26-month-old boy with significantly delayed motor development requiring mechanical ventilation and tube-feeding since birth. The muscle biopsy displayed typical features of myofibrillar myopathy with abnormal expression of multiple proteins. Whole exome sequencing revealed two-amino-acid duplication in ACTA1. In cell culture system, mutant actin was expressed at ~11% of wild-type, and mutant actin formed pleomorphic cytoplasmic aggregates whereas wild-type actin appeared in filamentous structures. We conclude that mutations in ACTA1 can cause pathologic features consistent with myofibrillar myopathy, and mutations in ACTA1 should be considered in patients with severe congenital hypotonia associated with muscle weakness and features of myofibrillar myopathy. PMID:25913210

  11. GC-MS analysis of the total delta9-THC content of both drug- and fiber-type cannabis seeds.

    PubMed

    Ross, S A; Mehmedic, Z; Murphy, T P; Elsohly, M A

    2000-01-01

    A GC-MS method was performed to determine the total delta9-THC content in both drug- and fiber-type cannabis seeds. Drug-type seeds were found to contain much higher levels of delta9-THC (35.6-124 microg/g) than fiber (hemp) seeds (0-12 microg/g). The majority of delta9-THC was found to be located on the surface of the seeds. Approximately 90% of the total delta9-THC was removed by a simple, quick wash with chloroform. Washed drug-type seeds contained less than 10 microg/g. Separation of the seeds into the kernel and testa showed that the bulk of delta9-THC is located in the testa, mainly on the outside. The kernels of drug- and fiber-type cannabis seeds contained less than 2 and 0.5 microg delta9-THC/g seeds, respectively. Fluctuations in the delta9-THC content of different replicates of the same type of seeds could be the result of the degree of contamination on the outside of the seeds.

  12. [Congenital heart diseases and sports].

    PubMed

    Martínez Quintana, E; Agredo Muñoz, J; Rodríguez González, F; Nieto Lago, V

    2008-04-01

    Congenital heart diseases are a frequent cause of cardiology consultation. New diagnostic and therapeutic techniques have allowed greater survival and quality of life of patients who wish to participate in sports. What they can do is not always easy to determine. Guidelines are helpful at the time of deciding, although finally is the doctor the one that must determine in each case the situation of the patient and the type of exercise they can do depending on the severity and type of cardiopathy.

  13. Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II.

    PubMed

    Fukuda, M N; Dell, A; Scartezzini, P

    1987-05-25

    Congenital dyserythropoietic anemia type II or hereditary erythroblastic multinuclearity with positive acidified serum test (HEMPAS) is a genetic disease caused by membrane abnormality. Previously we have found that Band 3 and Band 4.5 are not glycosylated by lactosaminoglycans in HEMPAS erythrocytes, whereas normally these proteins have lactosaminoglycans (Fukuda, M. N., Papayannopoulou, T., Gordon-Smith, E. C., Rochant, H., and Testa, U. (1984) Br. J. Haematol. 56, 55-68). In order to find out where glycosylation of lactosaminoglycans stops, we have analyzed the carbohydrate structures of HEMPAS Band 3. By fast atom bombardment-mass spectrometry, methylation analysis, and hydrazinolysis followed by exoglycosidase treatments, the following structure was elucidated: (formula; see text) N-Linked glycopeptides synthesized in vitro by reticulocyte microsomes from HEMPAS were shown to be predominantly the above short oligosaccharide, whereas those from normal reticulocytes contain large molecular weight carbohydrates. The N-acetylglucosaminyltransferase II, which transfers N-acetylglucosamine to the C-2 position of the Man alpha 1----6Man beta 1----arm of the biantennary core structure, was therefore examined by using Man alpha 1----6(GlcNAc beta 1----2Man alpha 1----3)Man beta 1----4GlcNAc beta 1----4GlcNAcol as an acceptor. N-Acetylglucosaminyltransferase II activity was demonstrated in the lymphocyte microsome fraction from normal individuals. However, this enzyme activity was found to be decreased in those from HEMPAS patients. These results suggest that the primary defect of HEMPAS lies in the lowered activity of N-acetylglucosaminyltransferase II. PMID:2953718

  14. Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II.

    PubMed

    Fukuda, M N; Dell, A; Scartezzini, P

    1987-05-25

    Congenital dyserythropoietic anemia type II or hereditary erythroblastic multinuclearity with positive acidified serum test (HEMPAS) is a genetic disease caused by membrane abnormality. Previously we have found that Band 3 and Band 4.5 are not glycosylated by lactosaminoglycans in HEMPAS erythrocytes, whereas normally these proteins have lactosaminoglycans (Fukuda, M. N., Papayannopoulou, T., Gordon-Smith, E. C., Rochant, H., and Testa, U. (1984) Br. J. Haematol. 56, 55-68). In order to find out where glycosylation of lactosaminoglycans stops, we have analyzed the carbohydrate structures of HEMPAS Band 3. By fast atom bombardment-mass spectrometry, methylation analysis, and hydrazinolysis followed by exoglycosidase treatments, the following structure was elucidated: (formula; see text) N-Linked glycopeptides synthesized in vitro by reticulocyte microsomes from HEMPAS were shown to be predominantly the above short oligosaccharide, whereas those from normal reticulocytes contain large molecular weight carbohydrates. The N-acetylglucosaminyltransferase II, which transfers N-acetylglucosamine to the C-2 position of the Man alpha 1----6Man beta 1----arm of the biantennary core structure, was therefore examined by using Man alpha 1----6(GlcNAc beta 1----2Man alpha 1----3)Man beta 1----4GlcNAc beta 1----4GlcNAcol as an acceptor. N-Acetylglucosaminyltransferase II activity was demonstrated in the lymphocyte microsome fraction from normal individuals. However, this enzyme activity was found to be decreased in those from HEMPAS patients. These results suggest that the primary defect of HEMPAS lies in the lowered activity of N-acetylglucosaminyltransferase II.

  15. Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-α2-deficient congenital muscular dystrophy (MDC1A)

    PubMed Central

    2012-01-01

    Background Laminin-α2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available. Antagonists of the angiotensin II receptor type 1 (AT1), including the anti-hypertensive drug losartan, have been shown to block also the profibrotic action of transforming growth factor (TGF)-β and thereby ameliorate disease progression in mouse models of Marfan syndrome. Because fibrosis and failure of muscle regeneration are the main reasons for the severe disease course of MDC1A, we tested whether L-158809, an analog derivative of losartan, could ameliorate the dystrophy in dyW/dyW mice, the best-characterized model of MDC1A. Methods L-158809 was given in food to dyW/dyW mice at the age of 3 weeks, and the mice were analyzed at the age of 6 to 7 weeks. We examined the effect of L-158809 on muscle histology and on muscle regeneration after injury as well as the locomotor activity and muscle strength of the mice. Results We found that TGF-β signaling in the muscles of the dyW/dyW mice was strongly increased, and that L-158809 treatment suppressed this signaling. Consequently, L-158809 reduced fibrosis and inflammation in skeletal muscle of dyW/dyW mice, and largely restored muscle regeneration after toxin-induced injury. Mice showed improvement in their locomotor activity and grip strength, and their body weight was significantly increased. Conclusion These data provide evidence that AT1 antagonists ameliorate several hallmarks of MDC1A in dyW/dyW mice, the best-characterized mouse model for this disease. Because AT1 antagonists are well tolerated in humans and widely used in clinical practice, these results suggest that losartan may offer a potential future treatment of patients with MDC1A. PMID:22943509

  16. Fiber in Diet Is Associated with Improvement of Glycated Hemoglobin and Lipid Profile in Mexican Patients with Type 2 Diabetes.

    PubMed

    Velázquez-López, Lubia; Muñoz-Torres, Abril Violeta; García-Peña, Carmen; López-Alarcón, Mardia; Islas-Andrade, Sergio; Escobedo-de la Peña, Jorge

    2016-01-01

    Objective. To assess the association of dietary fiber on current everyday diet and other dietary components with glycated hemoglobin levels (HbA1c), glucose, lipids profile, and body weight body weight, in patients with type 2 diabetes. Methods. A cross-sectional survey of 395 patients with type 2 diabetes was performed. HbA1c, fasting glucose, triglycerides, and lipids profile were measured. Weight, waist circumference, blood pressure, and body composition were measured. Everyday diet with a semiquantitative food frequency questionnaire was evaluated. ANOVA, Kruskal-Wallis, chi-square tests and multivariate logistic regression were used in statistical analysis. Results. Higher fiber intake was associated with a low HbA1c, high HDL-c levels, low weight, and waist circumference. The highest tertile of calories consumption was associated with a higher fasting glucose level and weight. The highest tertile of carbohydrate consumption was associated with a lower weight. The lowest tertile of total fat and saturated fat was associated with the highest tertile of HDL-c levels, and lower saturated fat intake was associated with lower weight (p < 0.05). Conclusions. A higher content of fiber in the diet reduces HbA1c and triglycerides, while improving HDL-c levels. Increasing fiber consumption while lowering calorie consumption seems to be an appropriate strategy to reduce body weight and promote blood glucose control.

  17. Fiber in Diet Is Associated with Improvement of Glycated Hemoglobin and Lipid Profile in Mexican Patients with Type 2 Diabetes.

    PubMed

    Velázquez-López, Lubia; Muñoz-Torres, Abril Violeta; García-Peña, Carmen; López-Alarcón, Mardia; Islas-Andrade, Sergio; Escobedo-de la Peña, Jorge

    2016-01-01

    Objective. To assess the association of dietary fiber on current everyday diet and other dietary components with glycated hemoglobin levels (HbA1c), glucose, lipids profile, and body weight body weight, in patients with type 2 diabetes. Methods. A cross-sectional survey of 395 patients with type 2 diabetes was performed. HbA1c, fasting glucose, triglycerides, and lipids profile were measured. Weight, waist circumference, blood pressure, and body composition were measured. Everyday diet with a semiquantitative food frequency questionnaire was evaluated. ANOVA, Kruskal-Wallis, chi-square tests and multivariate logistic regression were used in statistical analysis. Results. Higher fiber intake was associated with a low HbA1c, high HDL-c levels, low weight, and waist circumference. The highest tertile of calories consumption was associated with a higher fasting glucose level and weight. The highest tertile of carbohydrate consumption was associated with a lower weight. The lowest tertile of total fat and saturated fat was associated with the highest tertile of HDL-c levels, and lower saturated fat intake was associated with lower weight (p < 0.05). Conclusions. A higher content of fiber in the diet reduces HbA1c and triglycerides, while improving HDL-c levels. Increasing fiber consumption while lowering calorie consumption seems to be an appropriate strategy to reduce body weight and promote blood glucose control. PMID:27144178

  18. Fiber in Diet Is Associated with Improvement of Glycated Hemoglobin and Lipid Profile in Mexican Patients with Type 2 Diabetes

    PubMed Central

    Velázquez-López, Lubia; Muñoz-Torres, Abril Violeta; García-Peña, Carmen; López-Alarcón, Mardia; Islas-Andrade, Sergio; Escobedo-de la Peña, Jorge

    2016-01-01

    Objective. To assess the association of dietary fiber on current everyday diet and other dietary components with glycated hemoglobin levels (HbA1c), glucose, lipids profile, and body weight body weight, in patients with type 2 diabetes. Methods. A cross-sectional survey of 395 patients with type 2 diabetes was performed. HbA1c, fasting glucose, triglycerides, and lipids profile were measured. Weight, waist circumference, blood pressure, and body composition were measured. Everyday diet with a semiquantitative food frequency questionnaire was evaluated. ANOVA, Kruskal-Wallis, chi-square tests and multivariate logistic regression were used in statistical analysis. Results. Higher fiber intake was associated with a low HbA1c, high HDL-c levels, low weight, and waist circumference. The highest tertile of calories consumption was associated with a higher fasting glucose level and weight. The highest tertile of carbohydrate consumption was associated with a lower weight. The lowest tertile of total fat and saturated fat was associated with the highest tertile of HDL-c levels, and lower saturated fat intake was associated with lower weight (p < 0.05). Conclusions. A higher content of fiber in the diet reduces HbA1c and triglycerides, while improving HDL-c levels. Increasing fiber consumption while lowering calorie consumption seems to be an appropriate strategy to reduce body weight and promote blood glucose control. PMID:27144178

  19. Solitonic supercontinuum of femtosecond mid-IR pulses in W-type index tellurite fibers with two zero dispersion wavelengths

    NASA Astrophysics Data System (ADS)

    Kedenburg, S.; Steinle, T.; Mörz, F.; Steinmann, A.; Nguyen, D.; Rhonehouse, D.; Zong, J.; Chavez-Pirson, A.; Giessen, H.

    2016-11-01

    We present a detailed experimental parameter study on mid-IR supercontinuum generation in W-type index tellurite fibers, which reveals how the core diameter, pump wavelength, fiber length, and pump power dramatically influence the spectral broadening. As pump source, we use femtosecond mid-IR pulses from a post-amplified optical parametric oscillator tunable between 1.7 μm and 4.1 μm at 43 MHz repetition rate. We are able to generate red-shifted dispersive waves up to a wavelength of 5.1 μm by pumping a tellurite fiber in the anomalous dispersion regime between its two zero dispersion wavelengths. Distinctive soliton dynamics can be identified as the main broadening mechanism resulting in a maximum spectral width of over 2000 nm with output powers of up to 160 mW. We experimentally demonstrated that efficient spectral broadening with considerably improved power proportion in the important first atmospheric transmission window between 3 and 5 μm can be achieved in robust W-type tellurite fibers pumped at long wavelengths by ultra-fast lasers.

  20. Overexpression of the Mitochondrial T3 Receptor p43 Induces a Shift in Skeletal Muscle Fiber Types

    PubMed Central

    Casas, François; Pessemesse, Laurence; Grandemange, Stéphanie; Seyer, Pascal; Gueguen, Naïg; Baris, Olivier; Lepourry, Laurence; Cabello, Gérard; Wrutniak-Cabello, Chantal

    2008-01-01

    In previous studies, we have characterized a new hormonal pathway involving a mitochondrial T3 receptor (p43) acting as a mitochondrial transcription factor and consequently stimulating mitochondrial activity and mitochondrial biogenesis. We have established the involvement of this T3 pathway in the regulation of in vitro myoblast differentiation.We have generated mice overexpressing p43 under control of the human α-skeletal actin promoter. In agreement with the previous characterization of this promoter, northern-blot and western-blot experiments confirmed that after birth p43 was specifically overexpressed in skeletal muscle. As expected from in vitro studies, in 2-month old mice, p43 overexpression increased mitochondrial genes expression and mitochondrial biogenesis as attested by the increase of mitochondrial mass and mt-DNA copy number. In addition, transgenic mice had a body temperature 0.8°C higher than control ones and displayed lower plasma triiodothyronine levels. Skeletal muscles of transgenic mice were redder than wild-type animals suggesting an increased oxidative metabolism. In line with this observation, in gastrocnemius, we recorded a strong increase in cytochrome oxidase activity and in mitochondrial respiration. Moreover, we observed that p43 drives the formation of oxidative fibers: in soleus muscle, where MyHC IIa fibers were partly replaced by type I fibers; in gastrocnemius muscle, we found an increase in MyHC IIa and IIx expression associated with a reduction in the number of glycolytic fibers type IIb. In addition, we found that PGC-1α and PPARδ, two major regulators of muscle phenotype were up regulated in p43 transgenic mice suggesting that these proteins could be downstream targets of mitochondrial activity. These data indicate that the direct mitochondrial T3 pathway is deeply involved in the acquisition of contractile and metabolic features of muscle fibers in particular by regulating PGC-1α and PPARδ. PMID:18575627

  1. [Enzymopathic congenital hyperlactacidemia].

    PubMed

    Leroux, J P; Marsac, C; Saudubray, J M

    1976-01-01

    Congenital enzymopathic hyperlactacidemia results from a defect of utilisation of pyruvate either at the level of the pyruvate junction (pyruvate-carboxylase, pyruvate-dehydrogenase and Kreb's cycle), or at the level of the unidirectional enzymes on neo-glucogenesis and of neo-glycogenogenesis, e.g. glucose-6-phosphatase, phosphoenol-pyruvate-carboxykinase and glycogen synthetase. The enzymopathies which affect neoglucogenesis associate hyper-lactacidemia and fasting hypoglycemia and more or less marked hepatomegaly. Type I glycogenesis (von Gierke's disease) is the best known example. Enzymopathies which affect the pyruvate junction and the Krebs cycle, may be manifested in addition by: --either chronic neuropathies, e.g. Leigh's disease, recurrent ataxia, and moderate hyperalactacidemia,--or, as in congenital lactic acidoses, which have a rapid and severe prognosis with major hyperlactacidemia. Functional investigation, in particular, loading tests are of great value in orientation and justify the practice of tissue biopsy which permits the enzyme diagnosis. Recent, still unconfirmed knowledge of the pathogenesis of these diseases emphasizes the considerable importance of estimation of blood lactic acid in the investigation of metabolic acidoses of hereditary origin. PMID:184725

  2. Multiple isoforms of myofibrillar proteins in crustacean muscle: evidence for two slow fiber types

    SciTech Connect

    Mykles, D.L.

    1986-01-01

    Four distinct patterns of myofibrillar proteins, extracted from fast and slow muscles of the lobster, Homarus americanus, are distinguished by different assemblages of regulatory and contractile protein variants. Multiple isoforms of troponin-T, -I, and -C, paramyosin, and myosin light chains occur in six muscles of the claws and abdomen. Analysis of glycerinated fibers from the claws of lobster and land crab, Gecarcinus lateralis, show that more than one isoform is expressed in a single fiber, forming unique assemblages by which subgroups can be discriminated within the broader categories of fast and slow fibers. 9 refs., 3 figs.

  3. No association of dietary fiber intake with inflammation or arterial stiffness in youth with type 1 diabetes

    PubMed Central

    Jaacks, Lindsay M.; Crandell, Jamie; Liese, Angela D.; Lamichhane, Archana P.; Bell, Ronny A.; Dabelea, Dana; D'Agostino, Ralph B.; Dolan, Lawrence M.; Marcovina, Santica; Reynolds, Kristi; Shah, Amy S.; Urbina, Elaine M.; Wadwa, R. Paul; Mayer-Davis, Elizabeth J.

    2014-01-01

    Aim To examine the association of dietary fiber intake with inflammation and arterial stiffness among youth with type 1 diabetes (T1D) in the US. Methods Data are from youth ≥ 10 years old with clinically diagnosed T1D for ≥ 3 months and ≥ 1 positive diabetes autoantibody in the SEARCH for Diabetes in Youth Study. Fiber intake was assessed by food frequency questionnaire with measurement error (ME) accounted for by structural sub-models derived using additional 24-hour dietary recall data in a calibration sample and the respective exposure-disease model covariates. Markers of inflammation, measured at baseline, included IL-6 (n=1405), CRP (n=1387), and fibrinogen (n=1340); markers of arterial stiffness, measured approximately 19 months post-baseline, were available in a subset of participants and included augmentation index (n=180), pulse wave velocity (n=184), and brachial distensibility (n=177). Results Mean (SD) T1D duration was 47.9 (43.2) months; 12.5% of participants were obese. Mean (SD) ME-adjusted fiber intake was 15 (2.8) g/day. In multivariable analyses, fiber intake was not associated with inflammation or arterial stiffness. Conclusion Among youth with T1D, fiber intake does not meet recommendations and is not associated with measures of systemic inflammation or vascular stiffness. Further research is needed to evaluate whether fiber is associated with these outcomes in older individuals with T1D or among individuals with higher intakes than those observed in the present study. PMID:24613131

  4. The Relationship between Muscle Fiber Type-Specific PGC-1α Content and Mitochondrial Content Varies between Rodent Models and Humans

    PubMed Central

    Gouspillou, Gilles; Sgarioto, Nicolas; Norris, Brandon; Barbat-Artigas, Sébastien; Aubertin-Leheudre, Mylène; Morais, Jose A.; Burelle, Yan; Taivassalo, Tanja; Hepple, Russell T.

    2014-01-01

    PGC-1α regulates critical processes in muscle physiology, including mitochondrial biogenesis, lipid metabolism and angiogenesis. Furthermore, PGC-1α was suggested as an important regulator of fiber type determination. However, whether a muscle fiber type-specific PGC-1α content exists, whether PGC-1α content relates to basal levels of mitochondrial content, and whether such relationships are preserved between humans and classically used rodent models are all questions that have been either poorly addressed or never investigated. To address these issues, we investigated the fiber type-specific content of PGC-1α and its relationship to basal mitochondrial content in mouse, rat and human muscles using in situ immunolabeling and histochemical methods on muscle serial cross-sections. Whereas type IIa fibers exhibited the highest PGC-1α in all three species, other fiber types displayed a hierarchy of type IIx>I>IIb in mouse, type I = IIx> IIb in rat, and type IIx>I in human. In terms of mitochondrial content, we observed a hierarchy of IIa>IIx>I>IIb in mouse, IIa >I>IIx> IIb in rat, and I>IIa> IIx in human skeletal muscle. We also found in rat skeletal muscle that type I fibers displayed the highest capillarization followed by type IIa >IIx>IIb. Finally, we found in human skeletal muscle that type I fibers display the highest lipid content, followed by type IIa>IIx. Altogether, our results reveal that (i) the fiber type-specific PGC-1α and mitochondrial contents were only matched in mouse, (ii) the patterns of PGC-1α and mitochondrial contents observed in mice and rats do not correspond to that seen in humans in several respects, and (iii) the classical phenotypes thought to be regulated by PGC-1α do not vary exclusively as a function of PGC-1α content in rat and human muscles. PMID:25121500

  5. Effects of Birefringence and Nonlinearity on Optical Pulse Propagation in New Types of Optical Fibers

    SciTech Connect

    Curtis R. Menyuk; Gary M. Carter

    2005-05-15

    The purpose of this grant was to allow us to complete work that we had already begun on spun optical fibers and to begin studies of holey and photonic crystal optical fibers. The work on spun optical fibers was completed with great success. It led to several publications in collaboration with our co-workers at the Universita di Padova, and the student who carried out this work received a major award from the Universita di Padova. The work on holey and photonic crystal fibers has proceeded more slowly, but, in collaboration with Korean co-workers at the Gwangju Institute of Science and Technology, we have developed three different computational models that allow us to calculate the modes of these fibers: a Galerkin model, a plane wave model, and a multipole model. We have applied these models to the study of mode coupling in periodic gratings. In collaboration with scientists at the Naval Research Laboratory, we have also applied these models to the study of pulse compression in tapered fibers and the development of nonlinear fibers that are capable of handling large powers in high-index and chalcogenide glasses. European and Asian countries have made large investments in the development of these new glass technologies, while the United States has not. As a consequence, the United States is falling behind in what we believe will prove to be a critical area of nanotechnology. It is our view that by investing in this project, the Department of Energy has helped lay the groundwork for future development of special fiber technology in the United States, once the decision has been made that the United States cannot continue to stand on the sidelines as this technology--which appears to have great commercial and military value--is developed elsewhere.

  6. Optical frequency upconversion technique for transmission of wireless MIMO-type signals over optical fiber.

    PubMed

    Shaddad, R Q; Mohammad, A B; Al-Gailani, S A; Al-Hetar, A M

    2014-01-01

    The optical fiber is well adapted to pass multiple wireless signals having different carrier frequencies by using radio-over-fiber (ROF) technique. However, multiple wireless signals which have the same carrier frequency cannot propagate over a single optical fiber, such as wireless multi-input multi-output (MIMO) signals feeding multiple antennas in the fiber wireless (FiWi) system. A novel optical frequency upconversion (OFU) technique is proposed to solve this problem. In this paper, the novel OFU approach is used to transmit three wireless MIMO signals over a 20 km standard single mode fiber (SMF). The OFU technique exploits one optical source to produce multiple wavelengths by delivering it to a LiNbO3 external optical modulator. The wireless MIMO signals are then modulated by LiNbO3 optical intensity modulators separately using the generated optical carriers from the OFU process. These modulators use the optical single-sideband with carrier (OSSB+C) modulation scheme to optimize the system performance against the fiber dispersion effect. Each wireless MIMO signal is with a 2.4 GHz or 5 GHz carrier frequency, 1 Gb/s data rate, and 16-quadrature amplitude modulation (QAM). The crosstalk between the wireless MIMO signals is highly suppressed, since each wireless MIMO signal is carried on a specific optical wavelength.

  7. Optical Frequency Upconversion Technique for Transmission of Wireless MIMO-Type Signals over Optical Fiber

    PubMed Central

    Shaddad, R. Q.; Mohammad, A. B.; Al-Gailani, S. A.; Al-Hetar, A. M.

    2014-01-01

    The optical fiber is well adapted to pass multiple wireless signals having different carrier frequencies by using radio-over-fiber (ROF) technique. However, multiple wireless signals which have the same carrier frequency cannot propagate over a single optical fiber, such as wireless multi-input multi-output (MIMO) signals feeding multiple antennas in the fiber wireless (FiWi) system. A novel optical frequency upconversion (OFU) technique is proposed to solve this problem. In this paper, the novel OFU approach is used to transmit three wireless MIMO signals over a 20 km standard single mode fiber (SMF). The OFU technique exploits one optical source to produce multiple wavelengths by delivering it to a LiNbO3 external optical modulator. The wireless MIMO signals are then modulated by LiNbO3 optical intensity modulators separately using the generated optical carriers from the OFU process. These modulators use the optical single-sideband with carrier (OSSB+C) modulation scheme to optimize the system performance against the fiber dispersion effect. Each wireless MIMO signal is with a 2.4 GHz or 5 GHz carrier frequency, 1 Gb/s data rate, and 16-quadrature amplitude modulation (QAM). The crosstalk between the wireless MIMO signals is highly suppressed, since each wireless MIMO signal is carried on a specific optical wavelength. PMID:24772009

  8. Therapeutic effects of soluble dietary fiber consumption on type 2 diabetes mellitus

    PubMed Central

    Chen, Chunye; Zeng, Yuan; Xu, Jing; Zheng, Hongting; Liu, Jun; Fan, Rong; Zhu, Wenyi; Yuan, Lijia; Qin, Yu; Chen, Shihui; Zhou, Yong; Wu, Ying; Wan, Jing; Mi, Mantian; Wang, Jian

    2016-01-01

    Soluble dietary fiber (DF) reduces the risk of developing diabetes and may have therapeutic effects in patients with type 2 diabetes mellitus (DM2). The present study aimed to investigate the effect of soluble DF on metabolic control in patients with DM2. A total of 117 patients with DM2 between the ages of 40 and 70 were assessed. Patients were randomly assigned to one of two groups, and administered extra soluble DF (10 or 20 g/day), or to a control group (0 g/day) for one month. Blood glucose, serum insulin and connecting peptide (C-peptide) levels, and the insulin resistance index, as determined using the homeostatic model assessment method, were measured during fasting and up to 2-h postprandially prior to and following one month of treatment. Other measurements included serum levels of glycated albumin (GA), blood lipid profiles, and an analysis of the blood pressure, body weight and waist/hip ratio of all patients. Following intervention, the levels of 2-h blood glucose, fasting insulin and lipoprotein(a), and the insulin resistance index, were significantly improved in all groups. Furthermore, the fasting blood glucose, 2-h insulin, fasting C-peptide, 2-h C-peptide, GA and triglyceride (TG) levels were significantly improved in the soluble DF groups. The 20 g/day soluble DF group exhibited significantly improved fasting blood glucose and low-density lipoprotein levels, as well as a significantly improved insulin resistance index. In addition, 10 and 20 g/day soluble DF significantly improved the waist and hip circumferences and levels of TGs and apolipoprotein A. The results of the present study suggested that increased and regular consumption of soluble DF led to significant improvements in blood glucose levels, insulin resistance and metabolic profiles, without improving the secretory function of the islets of Langerhans, over a short-term intervention period in patients with DM2. PMID:27446349

  9. Emulsion Mapping in Pork Meat Emulsion Systems with Various Lipid Types and Brown Rice Fiber.

    PubMed

    Choi, Yun-Sang; Kim, Young-Boong; Kim, Hyun-Wook; Hwang, Ko-Eun; Song, Dong-Heon; Jeong, Tae-Jun; Park, Jinhee; Kim, Cheon-Jei

    2015-01-01

    This study was conducted to evaluate emulsion mapping between emulsion stability and cooking yields, apparent viscosity, and hardness of reduced-fat pork emulsion systems. The reduced-fat emulsion systems were supplemented with different lipid types and brown rice bran fiber (BRF) concentrations. Compared to the control with 30% back fat, lower emulsion stability and higher cooking yield of meat emulsion systems were observed in T1 (30% back fat+1% BRF), T2 (30% back fat+2% BRF), T3 (30% back fat+3% BRF), T4 (30% back fat+6% BRF), and T15 (10% back fat+10% canola oil+2% BRF). Lower emulsion stability and higher apparent viscosity were observed in T1, T2, T3, T4, and T8 (20% back fat+3% BRF) compared to the control. Lower emulsion stability and higher hardness was detected in all treatments compared with the control, except T5 (20% back fat), T10 (10% back fat+10% canola oil+2% BRF), T11 (10% back fat+10% olive oil+2% BRF), T12 (10% back fat+10% grape seed oil+2% BRF), and T13 (10% back fat+10% soybean oil+2% BRF). This approach has been found particularly useful for highlighting differences among the emulsified properties in emulsion meat products. Thus, the results obtained with emulsion mapping are useful in making emulsified meat products of desired quality characteristics, partially replacing pork back fat with a mix of 10% back fat, 10% canola oil and 2% BRF was most similar to the control with 30% pork back fat. PMID:26761836

  10. Emulsion Mapping in Pork Meat Emulsion Systems with Various Lipid Types and Brown Rice Fiber

    PubMed Central

    Choi, Yun-Sang; Kim, Young-Boong; Park, Jinhee

    2015-01-01

    This study was conducted to evaluate emulsion mapping between emulsion stability and cooking yields, apparent viscosity, and hardness of reduced-fat pork emulsion systems. The reduced-fat emulsion systems were supplemented with different lipid types and brown rice bran fiber (BRF) concentrations. Compared to the control with 30% back fat, lower emulsion stability and higher cooking yield of meat emulsion systems were observed in T1 (30% back fat+1% BRF), T2 (30% back fat+2% BRF), T3 (30% back fat+3% BRF), T4 (30% back fat+6% BRF), and T15 (10% back fat+10% canola oil+2% BRF). Lower emulsion stability and higher apparent viscosity were observed in T1, T2, T3, T4, and T8 (20% back fat+3% BRF) compared to the control. Lower emulsion stability and higher hardness was detected in all treatments compared with the control, except T5 (20% back fat), T10 (10% back fat+10% canola oil+2% BRF), T11 (10% back fat+10% olive oil+2% BRF), T12 (10% back fat+10% grape seed oil+2% BRF), and T13 (10% back fat+10% soybean oil+2% BRF). This approach has been found particularly useful for highlighting differences among the emulsified properties in emulsion meat products. Thus, the results obtained with emulsion mapping are useful in making emulsified meat products of desired quality characteristics, partially replacing pork back fat with a mix of 10% back fat, 10% canola oil and 2% BRF was most similar to the control with 30% pork back fat. PMID:26761836

  11. Corneal Confocal Microscopy Identifies Small-Fiber Neuropathy in Subjects With Impaired Glucose Tolerance Who Develop Type 2 Diabetes

    PubMed Central

    Azmi, Shazli; Ferdousi, Maryam; Petropoulos, Ioannis N.; Ponirakis, Georgios; Alam, Uazman; Fadavi, Hassan; Asghar, Omar; Marshall, Andrew; Atkinson, Andrew J.; Jones, Wendy; Boulton, Andrew J.M.; Tavakoli, Mitra; Jeziorska, Maria

    2015-01-01

    OBJECTIVE Impaired glucose tolerance (IGT) through to type 2 diabetes is thought to confer a continuum of risk for neuropathy. Identification of subjects at high risk of developing type 2 diabetes and, hence, worsening neuropathy would allow identification and risk stratification for more aggressive management. RESEARCH DESIGN AND METHODS Thirty subjects with IGT and 17 age-matched control subjects underwent an oral glucose tolerance test, assessment of neuropathic symptoms and deficits, quantitative sensory testing, neurophysiology, skin biopsy, and corneal confocal microscopy (CCM) to quantify corneal nerve fiber density (CNFD), branch density (CNBD), and fiber length (CNFL) at baseline and annually for 3 years. RESULTS Ten subjects who developed type 2 diabetes had a significantly lower CNFD (P = 0.003), CNBD (P = 0.04), and CNFL (P = 0.04) compared with control subjects at baseline and a further reduction in CNFL (P = 0.006), intraepidermal nerve fiber density (IENFD) (P = 0.02), and mean dendritic length (MDL) (P = 0.02) over 3 years. Fifteen subjects who remained IGT and 5 subjects who returned to normal glucose tolerance had no significant baseline abnormality on CCM or IENFD but had a lower MDL (P < 0.0001) compared with control subjects. The IGT subjects showed a significant decrease in IENFD (P = 0.02) but no change in MDL or CCM over 3 years. Those who returned to NGT showed an increase in CNFD (P = 0.05), CNBD (P = 0.04), and CNFL (P = 0.05), but a decrease in IENFD (P = 0.02), over 3 years. CONCLUSIONS CCM and skin biopsy detect a small-fiber neuropathy in subjects with IGT who develop type 2 diabetes and also show a dynamic worsening or improvement in corneal and intraepidermal nerve morphology in relation to change in glucose tolerance status. PMID:25877814

  12. Types of Congenital Heart Defects

    MedlinePlus

    ... of Medicine at Mount Sinai in New York City; Dr. Christine E. Seidman, professor of medicine and ... Clinical Genetics at Columbia University in New York City. The hangout is moderated by Dr. Jonathan R. ...

  13. Alberta Congenital Anomalies Surveillance System.

    PubMed Central

    Lowry, R B; Thunem, N Y; Anderson-Redick, S

    1989-01-01

    The Alberta Congenital Anomalies Surveillance System was started in 1966 in response to the thalidomide tragedy earlier in the decade. It was one of four provincial surveillance systems on which the federal government relied for baseline statistics of congenital anomalies. The government now collects data from six provinces and one territory. The Alberta Congenital Anomaly Surveillance System originally depended on three types of notification to the Division of Vital Statistics, Department of Health, Government of Alberta: birth notice and certificates of death and stillbirth; increased sources of ascertainment have greatly improved data quality. We present the data for 1980-86 and compare the prevalence rates of selected anomalies with the rates from three other surveillance systems. Surveillance systems do not guarantee that a new teratogen will be detected, but they are extremely valuable for testing hypotheses regarding causation. At the very least they provide baseline data with which to compare any deviation or trend. For many, if not most, congenital anomalies total prevention is not possible; however, surveillance systems can be used to measure progress in prevention. PMID:2819634

  14. Dermatoglyphic's in Congenital Cardiac Disease.

    PubMed

    Brijendra, Singh; Renu, Gupta; Dushyant, Agrawal; Rajneesh, Garg; Sunil, Katri

    2016-02-01

    Various dermatoglyphic parameters like finger print pattern, atd angle, absolute ridge count & ab, bc ,cd, and ad ridge counts were observed in 150 cases of congenital cardiac disease, comprising of 72 cases of Ventricular Septal Defects (VSD), 60 cases of Atrial Septal Defects (ASD), 9 cases of Coarctation of Aorta (COA) & 9 cases of Tetralogy of Fallot's (TOF). Same dermatoglyphic parameters were also studied in 300 controls and statistical comparison of cases and controls was done. In our study it was observed that the congenital cardiac disease cases exhibited preponderance of whorls (55.8%) with decrease in loop pattern (36.2%) as compared to those of controls and the difference was highly significant (P<0.001). The difference in the mean total finger ridge count (TFRC) of the controls and of the cases of Congenital Cardiac Diseases (CCD) was found to be highly significant (P<0.001), while the  mean atd angle in the cases of Congenital Cardiac Disease (CCD) was widen up and was statistically significant too. The mean ab, the mean bc ridge, the mean cd ridge and the mean ad ridge counts were also higher in the various type of CCD as compared to that controls and on statistical comparison, the difference was found to be highly significant.

  15. Reference values for vastus lateralis fiber size and type in healthy subjects over 40 years old: a systematic review and metaanalysis.

    PubMed

    Gouzi, Fares; Maury, Jonathan; Molinari, Nicolas; Pomiès, Pascal; Mercier, Jacques; Préfaut, Christian; Hayot, Maurice

    2013-08-01

    Skeletal muscle atrophy is a major systemic impairment in chronic diseases. Yet its determinants have been hard to identify because a clear research definition has not been agreed upon. The reduction in muscle fiber cross-sectional area (CSA) is a widely acknowledged marker of muscle atrophy, but no reference values for the muscle fiber CSA at the age of the onset of chronic disease have ever been published. Thus, we aimed to systematically review the studies providing data on fiber CSA and fiber type proportion in the vastus lateralis of the quadriceps of healthy subjects (age >40 yr) and then to pool and analyze the data from the selected studies to determine reference values for fiber CSA. We followed the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and identified 19 studies, including 423 subjects that matched the inclusion criteria. On the basis of fiber type and gender, the mean fiber CSA and the lower limits of normal (LLNs) were (%type I*60) + 1,743 μm(2) and (%type I*60) - 718 μm(2), respectively, for men; and (%type I*70) + 139 μm(2) and (%type I*70) - 1,485 μm(2), respectively, for women. There was no significant heterogeneity among subgroups of fiber type and gender. The pooled type I fiber proportion was 50.3% (LLN = 32.9%). In multivariate analysis, fiber CSA was significantly correlated with Vo2 peak (r = 190.92; P = 0.03), and type I fiber proportion was correlated with age (r = -0.024; P = 0.005), body mass index (r = 0.096; P = 0.005), and Vo2 peak (r = -0.053; P = 0.005). Our metaanalysis of a homogeneous set of studies is the first to provide valuable LLNs for fiber CSA according to fiber type and gender. This analysis will be improved by prospective assessment in well-characterized healthy subjects.

  16. Influence of laminate sequence and fabric type on the inherent acoustic nonlinearity in carbon fiber reinforced composites.

    PubMed

    Chakrapani, Sunil Kishore; Barnard, Daniel J; Dayal, Vinay

    2016-05-01

    This paper presents the study of influence of laminate sequence and fabric type on the baseline acoustic nonlinearity of fiber-reinforced composites. Nonlinear elastic wave techniques are increasingly becoming popular in detecting damage in composite materials. It was earlier observed by the authors that the non-classical nonlinear response of fiber-reinforced composite is influenced by the fiber orientation [Chakrapani, Barnard, and Dayal, J. Acoust. Soc. Am. 137(2), 617-624 (2015)]. The current study expands this effort to investigate the effect of laminate sequence and fabric type on the non-classical nonlinear response. Two hypotheses were developed using the previous results, and the theory of interlaminar stresses to investigate the influence of laminate sequence and fabric type. Each hypothesis was tested by capturing the nonlinear response by performing nonlinear resonance spectroscopy and measuring frequency shifts, loss factors, and higher harmonics. It was observed that the laminate sequence can either increase or decrease the nonlinear response based on the stacking sequence. Similarly, tests were performed to compare unidirectional fabric and woven fabric and it was observed that woven fabric exhibited a lower nonlinear response compared to the unidirectional fabric. Conjectures based on the matrix properties and interlaminar stresses were used in an attempt to explain the observed nonlinear responses for different configurations.

  17. Fiber intake and plasminogen activator inhibitor-1 in type 2 diabetes: Look AHEAD (Action for Health in Diabetes) Trial findings at baseline and 1 year

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Plasminogen activator inhibitor 1 (PAI-1) is elevated in obese individuals with type 2 diabetes and may contribute, independently of traditional factors, to increased cardiovascular disease risk. Fiber intake may decrease PAI-1 levels. We examined the associations of fiber intake and its changes wit...

  18. Congenital mirror movements.

    PubMed Central

    Schott, G D; Wyke, M A

    1981-01-01

    In this report are described seven patients assessed clinically and neuropsychologically in whom mirror movements affecting predominantly the hands occurred as a congenital disorder. These mirror movements, representing a specific type of abnormal synkinesia, may arise as a hereditary condition, in the presence of a recognisable underlying neurological abnormality, and sporadically, and the seven patients provide more or less satisfactory examples of each of these three groups. Despite the apparent uniformity of the disorder, the heterogeneity and variability may be marked, examples in some of our patients including the pronounced increase in tone that developed with arm movement, and the capacity for modulation of the associated movement by alteration of neck position and bio-feedback. Various possible mechanisms are considered; these include impaired cerebral inhibition of unwanted movements, and functioning of abnormal motor pathways. Emphasis has been placed on the putative role of the direct, crossed corticomotoneurone pathways and on the unilateral and bilateral cerebral events that precede movement. PMID:7288446

  19. [New type distributed optical fiber temperature sensor (DTS) based on Raman scattering and its' application].

    PubMed

    Wang, Jian-Feng; Liu, Hong-Lin; Zhang, Shu-Qin; Yu, Xiang-Dong; Sun, Zhong-Zhou; Jin, Shang-Zhong; Zhang, Zai-Xuan

    2013-04-01

    Basic principles, development trends and applications status of distributed optical fiber Raman temperature sensor (DTS) are introduced. Performance parameters of DTS system include the sensing optical fiber length, temperature measurement uncertainty, spatial resolution and measurement time. These parameters have a certain correlation and it is difficult to improve them at the same time by single technology. So a variety of key techniques such as Raman amplification, pulse coding technique, Raman related dual-wavelength self-correction technique and embedding optical switching technique are researched to improve the performance of the DTS system. A 1 467 nm continuous laser is used as pump laser and the light source of DTS system (1 550 nm pulse laser) is amplified. When the length of sensing optical fiber is 50 km the Raman gain is about 17 dB. Raman gain can partially compensate the transmission loss of optical fiber, so that the sensing length can reach 50 km. In DTS system using pulse coding technique, pulse laser is coded by 211 bits loop encoder and correlation calculation is used to demodulate temperature. The encoded laser signal is related, whereas the noise is not relevant. So that signal-to-noise ratio (SNR) of DTS system can be improved significantly. The experiments are carried out in DTS system with single mode optical fiber and multimode optical fiber respectively. Temperature measurement uncertainty can all reach 1 degrees C. In DTS system using Raman related dual-wavelength self-correction technique, the wavelength difference of the two light sources must be one Raman frequency shift in optical fiber. For example, wavelength of the main laser is 1 550 nm and wavelength of the second laser must be 1 450 nm. Spatial resolution of DTS system is improved to 2 m by using dual-wavelength self-correction technique. Optical switch is embedded in DTS system, so that the temperature measurement channel multiply extended and the total length of the sensing

  20. Skeletal muscle myostatin mRNA expression is fiber-type specific and increases during hindlimb unloading

    NASA Technical Reports Server (NTRS)

    Carlson, C. J.; Booth, F. W.; Gordon, S. E.

    1999-01-01

    Transgenic mice lacking a functional myostatin (MSTN) gene demonstrate greater skeletal muscle mass resulting from muscle fiber hypertrophy and hyperplasia (McPherron, A. C., A. M. Lawler, and S. -J. Lee. Nature 387: 83-90, 1997). Therefore, we hypothesized that, in normal mice, MSTN may act as a negative regulator of muscle mass. Specifically, we hypothesized that the predominately slow (type I) soleus muscle, which demonstrates greater atrophy than the fast (type II) gastrocnemius-plantaris complex (Gast/PLT), would show more elevation in MSTN mRNA abundance during hindlimb unloading (HU). Surprisingly, MSTN mRNA was not detectable in weight-bearing or HU soleus muscle, which atrophied 42% by the 7th day of HU in female ICR mice. In contrast, MSTN mRNA was present in weight-bearing Gast/PLT muscle and was significantly elevated (67%) at 1 day but not at 3 or 7 days of HU. However, the Gast/PLT muscle had only atrophied 17% by the 7th day of HU. Because the soleus is composed only of type I and IIa fibers, whereas the Gast/PLT expresses type IId/x and IIb in addition to type I and IIa, it was necessary to perform a more careful analysis of the relationship between MSTN mRNA levels and myosin heavy-chain (MHC) isoform expression (as a marker of fiber type). A significant correlation (r = 0.725, P < 0. 0005) was noted between the percentage of MHC isoform IIb expression and MSTN mRNA abundance in several muscles of the mouse hindlimb. These results indicate that MSTN expression is not strongly associated with muscle atrophy induced by HU; however, it is strongly associated with MHC isoform IIb expression in normal muscle.

  1. Effect of fiber orientation and type of restorative material on fracture strength of the tooth

    PubMed Central

    Moezizadeh, Maryam; Shokripour, Mohadeseh

    2011-01-01

    Aim: To determine the effect of fiber and its orientation on the fracture resistance of composite restorations in root-filled premolars. Materials and Methods: 50 sound human premolars were collected and assigned to five groups of ten specimens each. In group 1 (control), specimens were not root-filled. In the other four groups, MOD cavities were prepared and the cusps were reduced to 1.5 mm. In groups 2 and 3, the samples were filled with Z-250 and spectrum composites respectively without fiber reinforcement. Groups 4 and 5 were reinforced with Fiber-Ribbon-(Angelus) and restored with spectrum composite. Fibers were placed in the U-shaped design in group 4 while they were placed in the cross-shape in occlusal region in group 5. The fracture resistance was tested using a mechanical testing machine at crosshead speed of 1mm/min. Results: The fracture strength of control group was 1271.16±722.04 N while it was 952.05±330.16 N for group 2, 918.52±256.6 N for group 3, 857.13±184.58 N for group 4 and 1138.81±406.64 N for group 5. Fracture strength of group 5 was more than other groups except for group 1, there was no statistically significant differences. Conclusions: The reinforcement of composite with fiber does not increase fracture resistance of root-filled premolars significantly. PMID:22144799

  2. A Sliding-press-type Reel-to-reel Thermal Imprint System for Fiber Substrates

    NASA Astrophysics Data System (ADS)

    Ohtomo, Akihiro; Mekaru, Harutaka; Takagi, Hideki; Kokubo, Mitsunori; Goto, Hiroshi

    In the emerging fields related to healthcare, energy, and environment, realization of devices on flexible sheets is imminent. The materialization of such sheets would require fabrication of parts of devices on a fiber substrate where they can be assembled and interconnected by weaving. To broaden the area of a flexible sheet device, larger number of such devices will need to be formed directly on the fibers. Moreover, fabrication cost of a flexible sheet device, larger number of such devices will have to be addressed in order to make large size fabric manufacturable at affordable price. Therefore, a high-speed, low-cost, environmental friendly batch-manufacturing process of the devices on fiber is required. In this paper, we developed a reel-to-reel thermal imprint system combined with a sliding roller imprint mechanism. In this process, fiber substrate is sandwiched by a couple of flat molds, and these molds slide opposite direction each other under suitable press force and temperature. And then, we optimized conditions of this imprint process. Finally, we succeeded to imprint continuously more than 100 times and to fabricate 1.6 m long imprinted fiber. And we succeeded to imprint almost on entire cylindrical surface. A stable imprinted region was about 160° at each side.

  3. Eight weeks of ballistic exercise improves power independently of changes in strength and muscle fiber type expression.

    PubMed

    Winchester, Jason B; McBride, Jeffrey M; Maher, Margaret A; Mikat, Richard P; Allen, Brian K; Kline, Dennis E; McGuigan, Michael R

    2008-11-01

    This study investigated the effects of ballistic resistance training and strength training on muscle fiber composition, peak force (PF), maximal strength, and peak power (PP). Fourteen males (age = 21.3 +/- 2.9, body mass = 77.8 +/- 10.1 kg) with 3 months of resistance training experience completed the study. Subjects were tested pre and post for their squat one-repetition maximum (1RM) and PP in the jump squat (JS). Peak force and rate of force development (RFD) were tested during an isometric midthigh pull. Muscle biopsies were obtained from the vastus lateralis for analysis of muscle fiber type expression. Subjects were matched for strength and then randomly selected into either training (T) or control (C) groups. Group T performed 8 weeks of JS training using a periodized program with loading between 26 and 48% of 1RM, 3 days per week. Group T showed significant improvement in PP from 4088.9 +/- 520.6 to 5737.6 +/- 651.8 W. Rate of force development improved significantly in group T from 12687.5 +/- 4644.0 to 25343.8 +/- 12614.4 N x s(-1). PV improved significantly from 1.59 +/- 0.41 to 2.11 +/- 0.75 m x s(-1). No changes occurred in PF, 1RM, or muscle fiber type expression for group T. No changes occurred in any variables in group C. The results of this study indicate that using ballistic resistance exercise is an effective method for increasing PP and RFD independently of changes in maximum strength (1RM, PF), and those increases are a result of factors other than changes in muscle fiber type expression.

  4. Mortality from congenital abnormality in Malaysia 1991-1997: the effect of economic development on death due to congenital heart disease.

    PubMed

    Ho, J J

    2001-06-01

    An analysis was done of available data from the Department of Statistics Malaysia, on the type of congenital abnormality contributing to death, to determine whether progress in health care over recent years was associated with any decline in mortality from congenital abnormality. A significant decline in death due to congenital abnormality was observed between 1991 and 1996. This was attributable to a decline in deaths due to congenital heart disease occurring because of improvements in cardiac surgical services for infants. In 1997 death due to congenital heart disease increased significantly. This could be attributed to improvements in the diagnosis of congenital heart disease in the neonate.

  5. Congenital myopathies: an update.

    PubMed

    Nance, Jessica R; Dowling, James J; Gibbs, Elizabeth M; Bönnemann, Carsten G

    2012-04-01

    Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated. PMID:22392505

  6. Effects of Mechanical Overloading on the Properties of Soleus Muscle Fibers, with or without Damage in MDX and Wild Type Mice

    NASA Astrophysics Data System (ADS)

    Terada, Masahiro; Kawano, Fuminori; Ohira, Takashi; Oke, Yoshihiko; Nakai, Naoya; Ohira, Yoshinobu

    2008-06-01

    Effects of mechanical overloading on the characteristics of regenerating or not-regenerating soleus muscle fibers were studied. The muscle fibers of mdx mice were characterized by the localization of myonuclei. Muscle damage was also induced in wild type (WT) mice by injection of cardiotoxin (CTX) into soleus muscle. Overloading was applied for 14 days to the left soleus muscle in mdx and intact and CTX-injected WT mice by removing the distal tendons of plantaris and gastrocnemius muscles. The contralateral muscle served as the normal control. These animals were then allowed ambulation recovery in the cage. Central myonuclei were noted in many fibers of mdx and CTX-injected mice with or without overloading. In general, the fibers with central nuclei were considered as regenerating fibers. The fibers with more central nuclei were increased in mdx mice, but the fibers with more peripheral nuclei were increased in CTX-injected WT mice by overloading. The muscle satellite cells, neuromuscular junctions (NMJ), and myonuclei were stained. Most of the properties, such as number of myonuclei and satellite cells, size of NMJ, and fiber length, were not influenced by mechanical overloading in all mice. Approximately 0.6% branched fibers were seen in the intact soleus of mdx mice, although these fibers were not detected in WT mice. However, the percentage of these fibers was increased by overloading especially in mdx mice (~50% vs. ~2.5% in WT). In CTX-injected WT mice, these fibers were ~15% with or without overloading. The fiber cross sectional area in normal WT, but not in mdx and CTX-injected WT mice, was increased by overloading (p<0.05). These results suggested that the functional overload induced muscle damage in mdx mice, but promoted the regeneration in CTX-injected WT mice.

  7. Physiologic, metabolic, and muscle fiber type characteristics of musculus uvulae in sleep apnea hypopnea syndrome and in snorers.

    PubMed Central

    Sériès, F; Côté, C; Simoneau, J A; Gélinas, Y; St Pierre, S; Leclerc, J; Ferland, R; Marc, I

    1995-01-01

    Upper airway dilator muscles play an important role in the pathophysiology of sleep apnea hypopnea syndrome (SAHS). The mechanical and structural characteristics of these muscles remain unknown. The aim of this study was to compare the physiologic, metabolic, and fiber type characteristics of one upper airway dilator muscle (musculus uvulae, MU) in 11 SAHS and in seven nonapneic snorers. The different analyses were done on MU obtained during uvulo-palato-pharyngoplasty. Snorers and SAHS differed only in their apnea + hypopnea indices (11.5 +/- 5.9 and 34.2 +/- 14.6/h, respectively, mean +/- SD). Absolute twitch and tetanic tension production of MU was significantly greater in SAHS than in snorers while the fatigability index was similar in the two groups. Protein content and anaerobic enzyme activities of MU were significantly greater in SAHS than in snorers; no difference was observed for aerobic enzyme activities. The total muscle fiber cross-sectional area of MU was significantly higher in SAHS (2.2 +/- 0.9 mm2) than in snorers (1.1 +/- 0.7 mm2). The surface occupied by type IIA muscle fibers of MU was larger in SAHS (2.00 +/- 0.96) than in snorers (0.84 +/- 0.63 mm2). We conclude that the capacity for tension production and the anaerobic metabolic activity of MU are greater in SAHS than in snorers. PMID:7814616

  8. Sequence analysis of the E3 region and fiber gene of human adenovirus genome type 7h.

    PubMed

    Kajon, A E; Wadell, G

    1996-01-15

    Adenovirus type 7h is currently the predominant virulent genome type of serotype 7 isolated in Argentina, Chile, and Uruguay in association with severe infantile pneumonia. In order to characterize possible molecular determinants of pathogenicity, the nucleotide sequence of a 5904-bp fragment (76 to 93 mu) containing the entire E3 region and the fiber gene of Ad7h was established. The organization of the ORFs within the E3 region was similar to that reported for the prototype strains of Ad7 and Ad3. A comparison of the nucleotide and amino acid sequences of all ORFs revealed a higher homology between Ad7h and Ad7p than between Ad7h and Ad3 for 12.0K and 16.1K, whereas the 15.3K ORF and the adjacent fiber gene were strikingly more homologous to those of Ad3 (99.5 vs 81.1% and 98.2 vs 66.6%, respectively). The equivalent to ORF 7.7K in Ad7p was missing in Ad7h due to a deletion and a mutation affecting the start codon (ATG-->ATT). Although the hemagglutinin of the Ad7h fiber could not be characterized due to its lack of activity on monkey erythrocytes, our results indicate that Ad7h is an intermediate strain 7-3.

  9. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  10. Congenital hypomyelinating neuropathy: a reversible case.

    PubMed

    Ghamdi, M; Armstrong, D L; Miller, G

    1997-01-01

    A boy was born at 39 weeks gestation with severe weakness and hypotonia, fractured femurs, poor suck and swallow, and absent deep tendon reflexes. Electrodiagnostic studies revealed marked slowing of motor nerve conduction velocities and normal muscle electrical activity with no evidence of acute denervation. Muscle biopsy showed mild type 2 fiber predominance, and sural nerve biopsy revealed large axons without myelin, and axons with insufficient amount of myelin for their diameter. There was no evidence of inflammation or demyelination. Gradual clinical improvement in tone and strength occurred in a cephalocaudal direction. By 4 months, motor nerve conduction velocities and clinical examination were normal apart from absent deep tendon reflexes. On review at 19 months, motor development and neurological examination were completely normal. Pathogenesis of this reversible pathologically documented case of congenital hypomyelinating neuropathy is unclear. No evidence was found for an inflammatory, toxic, metabolic, or demyelinating cause. Abnormal expression of a developmental gene, as in reversible cytochrome oxidase deficiency, may be a cause of this neuropathy.

  11. Ultrahigh and persistent optical depths of cesium in Kagomé-type hollow-core photonic crystal fibers.

    PubMed

    Kaczmarek, Krzysztof T; Saunders, Dylan J; Sprague, Michael R; Kolthammer, W Steven; Feizpour, Amir; Ledingham, Patrick M; Brecht, Benjamin; Poem, Eilon; Walmsley, Ian A; Nunn, Joshua

    2015-12-01

    Alkali-filled hollow-core fibers are a promising medium for investigating light-matter interactions, especially at the single-photon level, due to the tight confinement of light and high optical depths achievable by light-induced atomic desorption (LIAD). However, until now these large optical depths could only be generated for seconds, at most once per day, severely limiting the practicality of the technology. Here we report the generation of the highest observed transient (>10(5) for up to a minute) and highest observed persistent (>2000 for hours) optical depths of alkali vapors in a light-guiding geometry to date, using a cesium-filled Kagomé-type hollow-core photonic crystal fiber (HC-PCF). Our results pave the way to light-matter interaction experiments in confined geometries requiring long operation times and large atomic number densities, such as generation of single-photon-level nonlinearities and development of single photon quantum memories.

  12. Transgenic mice expressing mutant Pinin exhibit muscular dystrophy, nebulin deficiency and elevated expression of slow-type muscle fiber genes

    SciTech Connect

    Wu, Hsu-Pin; Hsu, Shu-Yuan; Wu, Wen-Ai; Hu, Ji-Wei; Ouyang, Pin

    2014-01-03

    Highlights: •Pnn CCD domain functions as a dominant negative mutant regulating Pnn expression and function. •Pnn CCD mutant Tg mice have a muscle wasting phenotype during development and show dystrophic histological features. •Pnn mutant muscles are susceptible to slow fiber type gene transition and NEB reduction. •The Tg mouse generated by overexpression of the Pnn CCD domain displays many characteristics resembling NEB{sup +/−} mice. -- Abstract: Pinin (Pnn) is a nuclear speckle-associated SR-like protein. The N-terminal region of the Pnn protein sequence is highly conserved from mammals to insects, but the C-terminal RS domain-containing region is absent in lower species. The N-terminal coiled-coil domain (CCD) is, therefore, of interest not only from a functional point of view, but also from an evolutionarily standpoint. To explore the biological role of the Pnn CCD in a physiological context, we generated transgenic mice overexpressing Pnn mutant in skeletal muscle. We found that overexpression of the CCD reduces endogenous Pnn expression in cultured cell lines as well as in transgenic skeletal muscle fibers. Pnn mutant mice exhibited reduced body mass and impaired muscle function during development. Mutant skeletal muscles show dystrophic histological features with muscle fibers heavily loaded with centrally located myonuclei. Expression profiling and pathway analysis identified over-representation of genes in gene categories associated with muscle contraction, specifically those related to slow type fiber. In addition nebulin (NEB) expression level is repressed in Pnn mutant skeletal muscle. We conclude that Pnn downregulation in skeletal muscle causes a muscular dystrophic phenotype associated with NEB deficiency and the CCD domain is incapable of replacing full length Pnn in terms of functional capacity.

  13. The role of genotoxicity in asbestos-induced mesothelioma: an explanation for the differences in carcinogenic potential among fiber types.

    PubMed

    Barlow, Christy A; Lievense, Laura; Gross, Sherilyn; Ronk, Christopher J; Paustenbach, Dennis J

    2013-08-01

    The mechanism(s) underlying asbestos toxicity associated with the pathogenesis of mesothelioma has been a challenge to unravel for more than 60 years. A significant amount of research has focused on the characteristics of different fiber types and their potential to induce mesothelioma. These mechanistic studies of fiber toxicity have proceeded along two lines: those demonstrating biochemical mechanisms by which fibers induce disease and those investigating human susceptibility. Most recent studies focused on in vitro genotoxic effects induced by asbestos as the mechanism responsible for asbestos-induced disease. Although asbestos exerts a genotoxic effect at certain concentrations in vitro, a positive response in these tests does not indicate that the chemical is likely to produce an increased risk of carcinogenesis in exposed human populations. Thus far, findings from studies on the effects of fiber type in mesothelial cells are seriously flawed by a lack of a dose response relationship. The common limitation of these in vitro experiments is the lack of attention paid to the complexities of the human anatomy, biochemistry and physiology, which make the observed effects in these experimental systems difficult to extrapolate to persons in the workplace. Mechanistic differences between carcinogenic and genotoxic processes indicate why tests for genotoxicity do not provide much insight regarding the ability to predict carcinogenic potential in workers exposed to asbestos doses in the post-Occupational Safety and Health Administration era. This review discusses the existing literature on asbestos-induced genotoxicity and explains why these studies may or may not likely help characterize the dose-response curve at low dose.

  14. Congenital esophageal stenosis owing to tracheobronchial remnants

    PubMed Central

    Rebelo, Priscila Guyt; Ormonde, João Victor C.; Ormonde, João Baptista C.

    2013-01-01

    OBJECTIVE To emphasize the need of an accurate diagnosis of congenital esophageal stenosis due to tracheobronchial remnants, since its treatment differs from other types of congenital narrowing. CASE DESCRIPTION Four cases of lower congenital esophageal stenosis due to tracheobronchial remnants, whose definitive diagnosis was made by histopathology. Except for the last case, in which a concomitant anti-reflux surgery was not performed, all had a favorable outcome after resection and anastomosis of the esophagus. COMMENTS The congenital esophageal stenosis is an intrinsic narrowing of the organâ€(tm)s wall associated with its structural malformation. The condition can be caused by tracheobronchial remnants, fibromuscular stenosis or membranous diaphragm and the first symptom is dysphagia after the introduction of solid food in the diet. The first-choice treatment to tracheobronchial remnants cases is the surgical resection and end-to-end anastomosis of the esophagus. PMID:24142326

  15. Studies on the chronic toxicity (inhalation) of four types of refractory ceramic fiber in male Fischer 344 rats.

    PubMed

    Mast, R W; McConnell, E E; Anderson, R; Chevalier, J; Kotin, P; Bernstein, D M; Thevenaz, P; Glass, L R; Miiller, W C; Hesterberg, T W

    1995-01-01

    Abstract Refractory ceramic fibers (RCF) are man-made vitreous fibers used primarily in industrial high-temperature applications, especially for insulation of furnaces and kilns. Because of their increasing use and potential for human exposure, a chronic toxicity/carcinogenicity inhalation study was conducted in Fischer 344 (F344) rats. Five groups of 140 weanling male F344 rats were exposed via noseonly inhalation to either HEPA-filtered air (chamber controls) or 30 mg/m(3) (approximately 220 fibers/cm(3)) of three types [kaolin-based, high-purity, and aluminum zirconia silica (AZS)] of "size-selected" RCF fibers (approximately 1µ in diameter and approximately 20 um in length) and an "after-service" heat-treated (2400°F for 24 h) kaolin-based fiber for 6 h/day, 5 days/wk for 24 mo. They were then held unexposed until approximately 20% survival and then sacrificed at 30 mo. A positive control group of 80 F344 rats was exposed to 10 mg/m(3) chrysotile asbestos. Croups of 3-6 animals were sacrificed at 3, 6, 9, 12, 15, 18, and 24 mo to follow the progression of lesions and to determine fiber lung burdens. Additional groups of 3 rats were removed from exposure at 3, 6, 9, 12, and 18 mo and were held until sacrificed at 24 mo (recovery groups) for similar determinations. Lung burdens increased rapidly for all RCFs, appearing to plateau by about 12 mo. By 24 mo, lung burdens ranged from 2.6 to 9.6 × 10(5) fiberslmg of dry lung tissue for the RCFs tested. Treatment-related lesions were restricted to the lungs. To some extent all types of RCF resulted in macrophage infiltration, bronchiolization of proximal alveoli, and microgranuloma formation by 3 mo of exposure. Interstitial fibrosis was observed at 6 mo for all types of RCF, except the "after-service" fiber where fibrosis was not seen until 12 mo. The lesions progressed in severity until 12-15 mo, after which they plateaued. A minimal amount of focal pleural fibrosis was first observed at 9 mo and progressed to a

  16. Improvement of Endurance Based on Muscle Fiber-Type Composition by Treatment with Dietary Apple Polyphenols in Rats

    PubMed Central

    Okamoto, Shinpei; Akahoshi, Mariko; Suzuki, Takahiro; Do, Mai-Khoi Q.; Ohtsubo, Hideaki; Komiya, Yusuke; Lan, Mu; Waga, Toshiaki; Iwata, Akira; Nakazato, Koichi; Ikeuchi, Yoshihide; Anderson, Judy E.; Tatsumi, Ryuichi

    2015-01-01

    A recent study demonstrated a positive effect of apple polyphenol (APP) intake on muscle endurance of young-adult animals. While an enhancement of lipid metabolism may be responsible, in part, for the improvement, the contributing mechanisms still need clarification. Here we show that an 8-week intake of 5% (w/w) APP in the diet, up-regulates two features related to fiber type: the ratio of myosin heavy chain (MyHC) type IIx/IIb and myoglobin protein expression in plantaris muscle of 9-week-old male Fischer F344 rats compared to pair-fed controls (P < 0.05). Results were demonstrated by our SDS-PAGE system specialized for MyHC isoform separation and western blotting of whole muscles. Animal-growth profiles (food intake, body-weight gain, and internal-organ weights) did not differ between the control and 5% APP-fed animals (n = 9/group). Findings may account for the increase in fatigue resistance of lower hind limb muscles, as evidenced by a slower decline in the maximum isometric planter-flexion torque generated by a 100-s train of electrical stimulation of the tibial nerve. Additionally, the fatigue resistance was lower after 8 weeks of a 0.5% APP diet than after 5% APP, supporting an APP-dose dependency of the shift in fiber-type composition. Therefore, the present study highlights a promising contribution of dietary APP intake to increasing endurance based on fiber-type composition in rat muscle. Results may help in developing a novel strategy for application in animal sciences, and human sports and age-related health sciences. PMID:26222548

  17. Congenital CMV Infection

    MedlinePlus

    ... CMV Babies Born with CMV (Congenital CMV Infection) Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ... Detection and Intervention Helping Children With Congenital CMV Language: English Español (Spanish) File Formats Help: How do I ...

  18. Congenital heat disease

    SciTech Connect

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations.

  19. [Radiological evaluation of congenital tumors].

    PubMed

    Aguado del Hoyo, A; Ruiz Martín, Y; Lancharro Zapata, Á; Marín Rodríguez, C; Gordillo Gutiérrez, I

    2015-01-01

    In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used.

  20. Label-free immunoassay for porcine circovirus type 2 based on excessively tilted fiber grating modified with staphylococcal protein A.

    PubMed

    Luo, Binbin; Wu, Shengxi; Zou, Wengen; Zhang, Zhonghao; Zhao, Mingfu; Shi, Shenghui; Liu, Yong; Xi, Xiangfeng; Zeng, Zheng; Liang, Wangwang; Yan, Zhijun; Zhang, Lin

    2016-12-15

    Using excessively tilted fiber grating (Ex-TFG) inscribed in standard single mode fiber, we developed a novel label-free immunoassay for specific detection of porcine circovirus type 2 (PCV2), which is a minim animal virus. Staphylococcal protein A (SPA) was used to modify the silanized fiber surface thus forming a SPA layer, which would greatly enhance the proportion of anti-PCV2 monoclonal antibody (MAb) bioactivity, thus improving the effectiveness of specific adsorption and binding events between anti-PCV2 MAbs and PCV2 antigens. Immunoassay experiments were carried out by monitoring the resonance wavelength shift of the proposed sensor under different PCV2 titer levels. Anti-PCV2 MAbs were thoroughly dissociated from the SPA layer by treatment with urea, and recombined to the SPA layer on the sensor surface for repeated immunoassay of PCV2. The specificity of the immunosensor was inspected by detecting porcine reproductive and respiratory syndrome virus (PRRSV) first, and PCV2 subsequently. The results showed a limit of detection (LOD) for the PCV2 immunosensor of ~9.371TCID50/mL, for a saturation value of ~4.801×10(3)TCID50/mL, with good repeatability and excellent specificity. PMID:27518582

  1. Fiber-type-specific alphaB-crystallin distribution and its shifts with T(3) and PTU treatments in rat hindlimb muscles.

    PubMed

    Atomi, Y; Toro, K; Masuda, T; Hatta, H

    2000-04-01

    Changes in alphaB-crystallin content in adult rat soleus and extensor digitorum longus (EDL) were examined after 8 wk of 3,5, 3'-triiodothyronine (T(3)) and propylthiouracil (PTU) treatments. Cellular distributions of alphaB-crystallin expression related to fiber type, and distribution shifts with these treatments were also examined in detail from the gray level of reactivity to specific anti-alphaB-crystallin antibody. alphaB-crystallin content in both soleus and EDL muscles was significantly decreased after T(3), and that in EDL was significantly increased over twofold after PTU treatment. In both control soleus and EDL muscles, the gray level of type I fibers was higher than that of type II fibers. alphaB-crystallin expression among type II subtypes was muscle specific; the order was type I > IIa > IIx > IIb in control EDL muscle and type IIx > or = IIa in soleus muscle. The relation was basically unchanged in both muscles after T(3) treatment and was, in particular, well maintained in EDL muscle. Under hypothyroidism conditions with PTU, the mean alphaB-crystallin levels of type IIa and IIx fibers were significantly lower than levels under control conditions. Thus the relation between fiber type and the expression manner of stress protein alphaB-crystallin is muscle specific and also is well regulated under thyroid hormone, especially in fast EDL muscle.

  2. All-fiber dual-wavelength laser delivering two types of solitons

    NASA Astrophysics Data System (ADS)

    Li, W. L.

    2015-05-01

    We have proposed a compact all-fiber dual-wavelength laser based on a fiber Bragg grating (FBG) and semiconductor saturable absorber mirror (SESAM). The proposed laser mode locked by single-walled carbon nanotubes (SWNTs) delivers two kinds of solitons with pulse durations of ~1 ps and ~20 ps. The spectral width of the longer soliton pulses is ~0.14 nm, which attributes to the narrow bandwidth of the FBG. Shorter pulses with a spectral width of ~4 nm are mainly determined by the cavity length and intracavity dispersion. Our method provides a simple, stable, low-cost, and dual-scale ultrafast-pulsed laser source suitable for practical applications in optical communications and sensing.

  3. Behaviour of Different Types of Sand Randomly Mixing with Various Natural Fibers

    NASA Astrophysics Data System (ADS)

    Maity, J.; Chattopadhyay, B. C.; Mukherjee, S. P.

    2012-05-01

    For rapid expansion in transportation sector in India, a huge amount of construction of roads are being made through different schemes. Such constructions require massive quantity of conventional good brickbats for sub-base construction. But due to scarcity of raw materials for construction of good bricks and dearness of energy to make bricks, use of alternate materials for making sub-base is becoming more obligatory. In such condition, use of natural sands is being advocated. To improve the properties of such sands, to suit subbase characteristics, some natural fibers like jute, coir or Sabai grass can be used in random mixing with these sands, with the aim to increase the strength and decrease in deformability of the laid subbase layer. This work highlights the usefulness of construction of sub-base with sand and natural fibers composite system, as alternate material of construction.

  4. Distinct muscle apoptotic pathways are activated in muscles with different fiber types in a rat model of critical illness myopathy.

    PubMed

    Barnes, Benjamin T; Confides, Amy L; Rich, Mark M; Dupont-Versteegden, Esther E

    2015-06-01

    Critical illness myopathy (CIM) is associated with severe muscle atrophy and fatigue in affected patients. Apoptotic signaling is involved in atrophy and is elevated in muscles from patients with CIM. In this study we investigated underlying mechanisms of apoptosis-related pathways in muscles with different fiber type composition in a rat model of CIM using denervation and glucocorticoid administration (denervation and steroid-induced myopathy, DSIM). Soleus and tibialis anterior (TA) muscles showed severe muscle atrophy (40-60% of control muscle weight) and significant apoptosis in interstitial as well as myofiber nuclei that was similar between the two muscles with DSIM. Caspase-3 and -8 activities, but not caspase-9 and -12, were elevated in TA and not in soleus muscle, while the caspase-independent proteins endonuclease G (EndoG) and apoptosis inducing factor (AIF) were not changed in abundance nor differentially localized in either muscle. Anti-apoptotic proteins HSP70, -27, and apoptosis repressor with a caspase recruitment domain (ARC) were elevated in soleus compared to TA muscle and ARC was significantly decreased with induction of DSIM in soleus. Results indicate that apoptosis is a significant process associated with DSIM in both soleus and TA muscles, and that apoptosis-associated processes are differentially regulated in muscles of different function and fiber type undergoing atrophy due to DSIM. We conclude that interventions combating apoptosis with CIM may need to be directed towards inhibiting caspase-dependent as well as -independent mechanisms to be able to affect muscles of all fiber types.

  5. Sex-Based Differences in Skeletal Muscle Kinetics and Fiber-Type Composition

    PubMed Central

    Haizlip, K. M.; Harrison, B. C.

    2015-01-01

    Previous studies have identified over 3,000 genes that are differentially expressed in male and female skeletal muscle. Here, we review the sex-based differences in skeletal muscle fiber composition, myosin heavy chain expression, contractile function, and the regulation of these physiological differences by thyroid hormone, estrogen, and testosterone. The findings presented lay the basis for the continued work needed to fully understand the skeletal muscle differences between males and females. PMID:25559153

  6. Effect of resin type on the signal integrity of an embedded perfluorinated polymer optical fiber

    NASA Astrophysics Data System (ADS)

    Hamouda, Tamer; Peters, Kara; Seyam, Abdel-Fattah M.

    2012-05-01

    Polymer optical fibers (POF) hold many advantages for embedded sensing, such as their low cost, flexibility, high tensile strain limits and high fracture toughness. POF sensors may therefore be integrated into fiber reinforced composite structures for monitoring structural behavior. Since POFs do not require a protective coating, it is critical to verify that the resin system does not have a negative impact on the noise level or performance of POF sensors during composite manufacture. This study measured the effect of vinylester and epoxy resin systems on the signal loss of embedded perfluorinated, graded index POFs. Photon-counting optical time domain reflectometry (OTDR) was used to monitor the signal attenuation and backscattering level of the POFs throughout the resin curing cycle. Fourier transform infrared spectrometry (FTIR) and cross section analyses using scanning electronic microscope (SEM) images were also conducted to investigate whether the resin system caused chemical and physical changes of the POF. This study showed that vinylester resin caused a significant increase in the backscattering level of POF sensors and therefore induced high fiber signal losses. On the other hand, the POF treated with epoxy showed no change in backscattering level, indicating that no chemical or physical change had occurred to the POF.

  7. Fiber 3.0: An ecological growth model for northeastern forest types. Forest Service general technical report (Final)

    SciTech Connect

    Solomon, D.S.; Herman, D.A.; Leak, W.B.

    1995-05-22

    Fiber, a stand projection growth model, simulates the growth and structural development of stands in the Northeast. The internal structure of the model is specified and constructed by the ecological type classifications of sugar maple--ash, beech--red maple, oad--white pine, spruce--fir, hemlock--spruce, and cedar--black spruce. Guidelines are provided on operational procedures for the major commercial species growing on these different ecologic land classifications for a range of even-aged and uneven-aged silvicultural treatments and harvesting schedules.

  8. Stress generated by customized glass fiber posts and other types by photoelastic analysis.

    PubMed

    Bosso, Kátia; Gonini Júnior, Alcides; Guiraldo, Ricardo Danil; Berger, Sandrine Bittencourt; Lopes, Murilo Baena

    2015-01-01

    Endodontic posts are necessary to provide adequate retention and support when no sufficient remaining structure is available to retain the core. There are different materials and techniques to construct post-and-core, but there is no consensus about which one promotes better stress distribution on the remaining tooth structure. This study aimed to quantify and evaluate the distribution of stress in the root produced by customized glass fiber posts compared to different endodontic posts. Twenty-five simulated roots from photoelastic resin were made and divided into 5 groups: CPC, cast post-and-core; SP, screw post; CF, carbon fiber post; GF, glass fiber post; and CGF, customized glass fiber post. After cementing CPC and SP posts with zinc phosphate cement, and CF, GF and CGF posts with resin cement, resin cores were made for groups 2-5. Specimens were evaluated with vertical or 45° oblique loading. To analyze the fringes, the root was divided into 6 parts: palatal cervical, palatal middle, palatal apical, vestibular cervical, vestibular middle, and vestibular apical. The formed fringes were photographed and quantified. Data were recorded and subjected to two-way ANOVA and Tukey's test (5%). SP (1.95±0.60) showed higher stress (p<0.05) compared to the others (CPC-0.52±0.74; CF-0.50±0.75, GF-0.23±0.48 and CGF-0.45±0.83). All posts showed high stress in apical third (CPC-1.40±0.65; SP-2.30±0.44, CF-1.80±0.45, GF-1.20±0.45, CGF-1.70±1.03) Low stress was found in cervical third (CPC-0.20±0.45; CF-0.00±0.00, GF-0.00±0.00, CGF-0.00±0.00), except by SP (1.90±0.65), which showed statistical difference (p<0.05). Customized post showed high stress concentration at the root and conventional glass fiber posts showed more favorable biomechanical behavior.

  9. Intrinsic laryngeal muscles are spared from degeneration in the dy3K/dy3K mouse model of congenital muscular dystrophy type 1A.

    PubMed

    Häger, Mattias; Durbeej, Madeleine

    2009-01-01

    Deficiency of laminin alpha2 chain leads to a severe form of congenital muscular dystrophy (MDC1A). Here, we analyzed whether the intrinsic laryngeal muscles (ILM) are spared in the dy(3K)/dy(3K) mouse model of complete laminin alpha2 chain absence. No muscle degeneration was evident; expression of various laminin chains was similar to that of limb muscles, and sustained integrin alpha7B expression was noted in laminin alpha2 chain-deficient ILM. We conclude that ILM are spared in MDC1A.

  10. Giant congenital melanocytic nevus.

    PubMed

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.

  11. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsα and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism. PMID:15863666

  12. Immunoglobulin-Mediated Agglutination of and Biofilm Formation by Escherichia coli K-12 Require the Type 1 Pilus Fiber

    PubMed Central

    Orndorff, Paul E.; Devapali, Aditya; Palestrant, Sarah; Wyse, Aaron; Everett, Mary Lou; Bollinger, R. Randal; Parker, William

    2004-01-01

    The binding of human secretory immunoglobulin A (SIgA), the primary immunoglobulin in the gut, to Escherichia coli is thought to be dependent on type 1 pili. Type 1 pili are filamentous bacterial surface attachment organelles comprised principally of a single protein, the product of the fimA gene. A minor component of the pilus fiber (the product of the fimH gene, termed the adhesin) mediates attachment to a variety of host cell molecules in a mannose inhibitable interaction that has been extensively described. We found that the aggregation of E. coli K-12 by human secretory IgA (SIgA) was dependent on the presence of the pilus fiber, even in the absence of the mannose specific adhesin or in the presence of 25 mM α-CH3Man. The presence of pilus without adhesin also facilitated SIgA-mediated biofilm formation on polystyrene, although biofilm formation was stronger in the presence of the adhesin. IgM also mediated aggregation and biofilm formation in a manner dependent on pili with or without adhesin. These findings indicate that the pilus fiber, even in the absence of the adhesin, may play a role in biologically important processes. Under conditions in which E. coli was agglutinated by SIgA, the binding of SIgA to E. coli was not increased by the presence of the pili, with or without adhesin. This observation suggests that the pili, with or without adhesin, affect factors such as cell surface rigidity or electrostatic repulsion, which can affect agglutination but which do not necessarily determine the level of bound immunoglobulin. PMID:15039312

  13. A new compound heterozygous frameshift mutation in the type II 3{beta}-hydroxysteroid dehydrogenase 3{beta}-HSD gene causes salt-wasting 3{beta}-HSD deficiency congenital adrenal hyperplasia

    SciTech Connect

    Zhang, L.; Sakkal-Alkaddour, S.; Chang, Ying T.; Yang, Xiaojiang; Songya Pang

    1996-01-01

    We report a new compound heterozygous frameshift mutation in the type II 3{Beta}-hydroxysteroid dehydrogenase (3{beta}-HSD) gene in a Pakistanian female child with the salt-wasting form of 3{Beta}-HSD deficiency congenital adrenal hyperplasia. The etiology for her congenital adrenal hyperplasia was not defined. Although the family history suggested possible 3{beta}-HSd deficiency disorder, suppressed adrenal function caused by excess glucocorticoid therapy in this child at 7 yr of age did not allow hormonal diagnosis. To confirm 3{beta}-HSD deficiency, we sequenced the type II 3{beta}-HSD gene in the patient, her family, and the parents of her deceased paternal cousins. The type II 3{beta}-HSD gene region of a putative promotor, exons I, II, III, and IV, and exon-intron boundaries were amplified by PCR and sequenced in all subjects. The DNA sequence of the child revealed a single nucleotide deletion at codon 318 [ACA(Thr){r_arrow}AA] in exon IV in one allele, and two nucleotide deletions at codon 273 [AAA(Lys){r_arrow}A] in exon IV in the other allele. The remaining gene sequences were normal. The codon 318 mutation was found in one allele from the father, brother, and parents of the deceased paternal cousins. The codon 273 mutation was found in one allele of the mother and a sister. These findings confirmed inherited 3{beta}-HSD deficiency in the child caused by the compound heterozygous type II 3{beta}-HSD gene mutation. Both codons at codons 279 and 367, respectively, are predicted to result in an altered and truncated type II 3{beta}-HSD protein, thereby causing salt-wasting 3{beta}-HSD deficiency in the patient. 21 refs., 2 figs., 1 tab.

  14. Congenital Portosystemic Shunt: Our Experience

    PubMed Central

    Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

    2015-01-01

    Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

  15. Efficiency of various modulation types in Step Index Polymer Optical Fiber

    NASA Astrophysics Data System (ADS)

    Siuzdak, Jerzy; Stepniak, Grzegorz

    2014-11-01

    Efficiency of PAM, CAP/QAM and OFDM/DMT modulation for Step Index Polymer Optical Fiber channel is analyzed theoretically. It is shown that for the same transmitted optical power and same BER they offer similar data throughputs. However, when the light source has limited dynamics the crucial factor is the peak to average power ratio of the modulating signal. This is the greatest for OFDM/DMT and smaller for CAP and PAM. Consequently, the efficiency for PAM and CAP should be comparable whereas that of DMT - inferior. This conclusion was confirmed by experimental results.

  16. Effect of four types of dietary fiber on the technological quality of pasta.

    PubMed

    Bustos, M C; Pérez, G T; León, A E

    2011-06-01

    The development of dietary fiber-enriched foods permits to obtain products with functional properties but can cause several problems in technological quality. The aim of this study was to study the quality of pasta obtained by replacing bread wheat flour with resistant starch II (RSII), resistant starch IV (RSIV), oat bran (OB) and inulin (IN) with the purpose of improving their nutritional quality. RSII, RSIV, OB and IN were substituted for a portion of bread wheat flour at levels 2.5%, 5.0%, 7.5% and 10.0%. Cooking properties, amylose and inulin losses, color and texture were measured. Finally, nutritional quality of enriched pasta was evaluated by protein losses during cooking and total dietary fiber. Microstructure of pasta was analyzed by scanning electron microscopy. Addition of RSII into pasta formulation improved the quality of the final product. RSIV-enriched pasta presented an improvement in textural characteristics and OB affected cooking properties positively up to 5% of substitution. Inulin was lost during cooking; besides, its addition negatively affected the technological quality of pasta. The results obtained in this study prove that it is possible to elaborate pasta with acceptable cooking quality and with improved nutritional characteristics by adding 10% of RSII and RSIV and 5% of OB. PMID:21593287

  17. Findings of Optical Coherence Tomography of Retinal Nerve Fiber Layer in Two Common Types of Multiple Sclerosis.

    PubMed

    Yousefipour, Gholamali; Hashemzahi, Zabihollah; Yasemi, Masood; Jahani, Pegah

    2016-06-01

    Multiple sclerosis (MS) is the most prevalent disease caused by the inflammatory demyelinating process that causes progressive nervous system degeneration over the time. Optical Coherence Tomography (OCT) is a non-invasive optical imaging technology, which can measure the thickness of retinal nerve fiber layer as well as the diameter of the macula. The purpose of the study is evaluation OCT findings in two common types of multiple sclerosis. For doing the cross-sectional study, 63 patients with two prevalent types of multiple sclerosis (35 patients with Relapse Remitting Multiple Sclerosis (RRMS) and 28 patients with Secondary Progressive Multiple Sclerosis (SPMS) were evaluated for 6 months. Exclusion criteria of the study were a history of optic neuritis, suffering from diabetes mellitus, hypertension, ocular disease, and the presence of other neurologic degenerative diseases. Then, the thickness of retinal nerve fiber layer (RNFL), as well as thickness and volume of the macula, were measured in the patients using OCT technology. The disability rate of patients was evaluated according to Expanded Disability Status Scale (EDSS). Finally, data was analyzed by means of SPSS software. Overall, 35 patients with RRMS (with mean age of 32.37+10.01, average disease period of 3.81+3.42 and mean EDSS of 1.84+0.45) and 28 patients with SPMS (with mean age of 39.21+9.33, average disease period of 11.32+5.87 and mean EDSS of 5.12+1.46) were assessed and compared in terms of retinal nerve fiber layer and size and thickness of macula. In all of these sections, the thicknesses were smaller in SPMS patients than patients with RRMS. But, there was a significant difference in total thickness (81.82µm versus 96.03µm with P=0.04) and thickness of temporal sector (54.5 µm versus 69.34 µm with P=0.04) of retinal nerve fiber layer and macular size at the superior sector of external ring (1.48 mm³ versus 1.58 mm³ with P=0.03), and nasal sector of external ring surrounding macula (1

  18. Congenital lobar emphysema

    PubMed Central

    Tural-Kara, Tuğçe; Özdemir, Halil; Çiftçi, Ergin; İnce, Erdal

    2016-01-01

    Congenital lobar emphysema is a rare disease, which is characterized by pulmoner hyperinflation. Depending on the degree of bronchial obstruction, the clinical presentation may be variable. We report a rare case with congenital lobar emphysema in a 38-days-old male infant who presented with severe respiratory distress and hypertension. Air trapping in the left upper lung and significant mediastinal shift to the right were observed on the chest x-ray. Emphysematous changes were detected on the thorax computed tomography and considered as congenital lobar emphysema. The upper left lobectomy was successfully performed by pediatric surgeons. On postoperative follow up, no sign of respiratory distress occurred and the patient was normotensive. In this report, a case with congenital lobar emphysema, which is a rare cause of respiratory distress and hypertension is discussed. PMID:27381542

  19. Giant congenital nevus

    MedlinePlus

    ... pigmented nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... baby grows in the womb. In some families bathing trunk nevi may be inherited. The condition may ...

  20. Adult Congenital Heart Association

    MedlinePlus

    ... survivable, manageable, yet in the routine years between infancy and adulthood, sometimes forgettable. The Adult Congenital Heart ... understand the continuum of the disease from its infancy. The Adult Congential Heart Association brings together valuable ...

  1. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  2. Congenital platelet function defects

    MedlinePlus

    Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... disorder may also cause severe bleeding. Platelet storage pool disorder (also called platelet secretion disorder) occurs when ...

  3. Congenital heart disease

    MedlinePlus

    ... about genetic counseling and screening if you have a family history of cogenital heart disease. ... Fraser CD, Carberry KE. Congenital heart disease. In: Townsend CM ... Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: ...

  4. Fiber intake and plasminogen activator inhibitor-1 in type 2 diabetes: Look AHEAD (Action for Health in Diabetes) trial findings at baseline and year 1.

    PubMed

    Belalcazar, L Maria; Anderson, Andrea M; Lang, Wei; Schwenke, Dawn C; Haffner, Steven M; Yatsuya, Hiroshi; Rushing, Julia; Vitolins, Mara Z; Reeves, Rebecca; Pi-Sunyer, F Xavier; Tracy, Russell P; Ballantyne, Christie M

    2014-11-01

    Plasminogen activator inhibitor 1 (PAI-1) is elevated in obese individuals with type 2 diabetes and may contribute, independently of traditional factors, to increased cardiovascular disease risk. Fiber intake may decrease PAI-1 levels. We examined the associations of fiber intake and its changes with PAI-1 before and during an intensive lifestyle intervention (ILI) for weight loss in 1,701 Look AHEAD (Action for Health in Diabetes) participants with dietary, fitness, and PAI-1 data at baseline and 1 year. Look AHEAD was a randomized cardiovascular disease trial in 5,145 overweight/obese patients with type 2 diabetes, comparing ILI (goal of ≥7% reduction in baseline weight) with a control arm of diabetes support and education. ILI participants were encouraged to consume vegetables, fruits, and grain products low in sugar and fat. At baseline, median fiber intake was 17.9 g/day. Each 8.3 g/day higher fiber intake was associated with a 9.2% lower PAI-1 level (P=0.008); this association persisted after weight and fitness adjustments (P=0.03). Higher baseline intake of fruit (P=0.019) and high-fiber grain and cereal (P=0.029) were related to lower PAI-1 levels. Although successful in improving weight and physical fitness at 1 year, the ILI in Look AHEAD resulted in small increases in fiber intake (4.1 g/day, compared with -2.35 g/day with diabetes support and education) that were not related to PAI-1 change (P=0.34). Only 31.3% of ILI participants (39.8% of women, 19.1% of men) met daily fiber intake recommendations. Increasing fiber intake in overweight/obese individuals with diabetes interested in weight loss is challenging. Future studies evaluating changes in fiber consumption during weight loss interventions are warranted.

  5. Push-out strength of fiber posts depending on the type of root canal filling and resin cement.

    PubMed

    Dimitrouli, Maria; Günay, Hüsamettin; Geurtsen, Werner; Lührs, Anne-Katrin

    2011-04-01

    The purpose of this study was to analyze the push-out strength of two fiber post systems/resin cements (RelyX Unicem/RelyX Fiber Post (RLX) and Variolink II/DT Light SL (VL)) depending on the root canal filling (RF). One hundred sixty extracted human teeth were divided into four groups: gutta-percha/AH Plus (GP), gutta-percha/Guttaflow (GF), pre-existing root canal filling (PRF), and without root canal filling (WRF). After root canal treatment, fiber posts were inserted using either RelyX® or Variolink II®/Excite DSC®. Half of the specimens were thermocycled (TC, 5,000 cycles, 5-55°C). All specimens were subjected to the push-out test (crosshead speed 1 mm/min). Three-way ANOVA showed a significant influence of either the RF or the resin cement/post system (p < 0.001). The highest bond strength was measured for VL-WRF without TC (16.5 ± 6.4 MPa). TC had no significant influence within the RLX groups. For groups PRF and WRF, significant differences were documented between VL and RLX (PRF 16.3 ± 6.0 vs 7.0 ± 2.4 MPa, p = 0.001; WRF 16.5 ± 6.4 vs 8.0 ± 5.0, p = 0.004) before TC. No differences were found after TC. The fracture mode analysis for VL showed mainly adhesive fractures between post and cement. For RLX, mixed fractures between post and tooth and between tooth and cement were predominantly determined. The adhesion of resin cements/post systems could be dependent on the type of RF. Higher bond strength values were found for the conventional ("etch and rinse") adhesive than for the "self-adhesive resin cement."

  6. Adhesive Fiber Stratification in Uropathogenic Escherichia coli Biofilms Unveils Oxygen-Mediated Control of Type 1 Pili

    PubMed Central

    Floyd, Kyle A.; Moore, Jessica L.; Eberly, Allison R.; Good, James A. D.; Shaffer, Carrie L.; Zaver, Himesh; Almqvist, Fredrik; Skaar, Eric P.; Caprioli, Richard M.; Hadjifrangiskou, Maria

    2015-01-01

    Bacterial biofilms account for a significant number of hospital-acquired infections and complicate treatment options, because bacteria within biofilms are generally more tolerant to antibiotic treatment. This resilience is attributed to transient bacterial subpopulations that arise in response to variations in the microenvironment surrounding the biofilm. Here, we probed the spatial proteome of surface-associated single-species biofilms formed by uropathogenic Escherichia coli (UPEC), the major causative agent of community-acquired and catheter-associated urinary tract infections. We used matrix-assisted laser desorption/ionization (MALDI) time-of-flight (TOF) imaging mass spectrometry (IMS) to analyze the spatial proteome of intact biofilms in situ. MALDI-TOF IMS revealed protein species exhibiting distinct localizations within surface-associated UPEC biofilms, including two adhesive fibers critical for UPEC biofilm formation and virulence: type 1 pili (Fim) localized exclusively to the air-exposed region, while curli amyloid fibers localized to the air-liquid interface. Comparison of cells grown aerobically, fermentatively, or utilizing an alternative terminal electron acceptor showed that the phase-variable fim promoter switched to the “OFF” orientation under oxygen-deplete conditions, leading to marked reduction of type 1 pili on the bacterial cell surface. Conversely, S pili whose expression is inversely related to fim expression were up-regulated under anoxic conditions. Tethering the fim promoter in the “ON” orientation in anaerobically grown cells only restored type 1 pili production in the presence of an alternative terminal electron acceptor beyond oxygen. Together these data support the presence of at least two regulatory mechanisms controlling fim expression in response to oxygen availability and may contribute to the stratification of extracellular matrix components within the biofilm. MALDI IMS facilitated the discovery of these mechanisms

  7. Whole grains, type 2 diabetes, coronary heart disease, and hypertension: links to the aleurone preferred over indigestible fiber.

    PubMed

    Lillioja, Stephen; Neal, Andrew L; Tapsell, Linda; Jacobs, David R

    2013-01-01

    Higher whole grain cereal intakes are associated with substantially lower risks of type 2 diabetes, coronary heart disease, and hypertension. These reduced risks have been established in large prospective studies that now include millions of person-years of follow-up. We analyze the results of 11 major prospective studies to provide recommendations about whole grain consumption. The following review establishes the amount of whole grains that should ideally be consumed based on prospective evidence; defines the nature of whole grains; identifies that the whole grain evidence is robust and not due to confounding; and provides a detailed assessment of several potential mechanisms for the effect of whole grains on health. We draw the following conclusions. Firstly, to maintain health, 40 grams or more of whole grains should be consumed daily. This is about a bowl of whole grain breakfast cereal daily, but 80% of the population does not achieve this. Secondly, aleurone in bran is a critical grain component generally overlooked in favor of indigestible fiber. Live aleurone cells constitute 50% of millers' bran. They store minerals, protein, and the antioxidant ferulic acid, and are clearly more than just indigestible fiber. Finally, we suggest potential roles for magnesium, zinc, and ferulic acid in the development of chronic disease. If the results of prospective studies were applied to the life-style practices of modern societies there exists the potential for enormous personal health and public financial benefits.

  8. Whole Grains, Type 2 Diabetes, Coronary Heart Disease, and Hypertension: Links to the Aleurone preferred over Indigestible Fiber

    PubMed Central

    Lillioja, Stephen; Neal, Andrew L; Tapsell, Linda; Jacobs, David R

    2012-01-01

    Higher whole grain cereal intakes are associated with substantially lower risks of type 2 diabetes, coronary heart disease, and hypertension. These reduced risks have been established in large prospective studies that now include millions of person-years of follow-up. We analyze the results of 11 major prospective studies to provide recommendations about whole grain consumption. The following review establishes the amount of whole grains that should ideally be consumed based on prospective evidence; defines the nature of whole grains; identifies that the whole grain evidence is robust and not due to confounding; and provides a detailed assessment of several potential mechanisms for the effect of whole grains on health. We draw the following conclusions. Firstly, to maintain health, 40 grams or more of whole grains should be consumed daily. This is about a bowl of whole grain breakfast cereal daily, but 80% of the population does not achieve this. Secondly, aleurone in bran is a critical grain component generally overlooked in favor of indigestible fiber. Live aleurone cells constitute 50% of millers’ bran. They store minerals, protein, and the antioxidant ferulic acid, and are clearly more than just indigestible fiber. Finally, we suggest potential roles for magnesium, zinc, and ferulic acid in the development of chronic disease. If the results of prospective studies were applied to the life-style practices of modern societies there exists the potential for enormous personal health and public financial benefits. PMID:23355358

  9. Intramyocellular lipid dependence on skeletal muscle fiber type and orientation characterized by diffusion tensor imaging and 1H-MRS

    NASA Astrophysics Data System (ADS)

    Valaparla, Sunil K.; Gao, Feng; Abdul-Ghani, Muhammad; Clarke, Geoffrey D.

    2014-03-01

    When muscle fibers are aligned with the B0 field, intramyocellular lipids (IMCL), important for providing energy during physical activity, can be resolved in proton magnetic resonance spectra (1H-MRS). Various muscles of the leg differ significantly in their proportion of fibers and angular distribution. This study determined the influence of muscle fiber type and orientation on IMCL using 1H-MRS and diffusion tensor imaging (DTI). Muscle fiber orientation relative to B0 was estimated by pennation angle (PA) measurements from DTI, providing orientation-specific extramyocellular lipid (EMCL) chemical shift data that were used for subject-specific IMCL quantification. Vastus lateralis (VL), tibialis anterior (TA) and soleus (SO) muscles of 6 healthy subjects (21-40 yrs) were studied on a Siemens 3T MRI system with a flex 4-channel coil. 1H-MRS were acquired using stimulated echo acquisition mode (STEAM, TR=3s, TE=270ms). DTI was performed using single shot EPI (b=600s/mm2, 30 directions, TR=4.5s, TE=82ms, and ten×5mm slices) with center slice indexed to the MRS voxel. The average PA's measured from ROI analysis of primary eigenvectors were PA=19.46+/-5.43 for unipennate VL, 15.65+/-3.73 for multipennate SO, and 7.04+/-3.34 for bipennate TA. Chemical shift (CS) was calculated using [3cos2θ-1] dependence: 0.17+/-0.02 for VL, 0.18+/-0.01 for SO and 0.19+/-0.004 ppm for TA. IMCL-CH2 concentrations from spectral analysis were 12.77+/-6.3 for VL, 3.07+/-1.63 for SO and 0.27+/-0.08 mmol/kg ww for TA. Small PA's were measured in TA and large CS with clear separation between EMCL and IMCL peaks were observed. Larger variations in PA were measured VL and SO resulting in an increased overlap of the EMCL on IMCL peaks.

  10. Temporal pulse compression in a xenon-filled Kagome-type hollow-core photonic crystal fiber at high average power.

    PubMed

    Heckl, O H; Saraceno, C J; Baer, C R E; Südmeyer, T; Wang, Y Y; Cheng, Y; Benabid, F; Keller, U

    2011-09-26

    In this study we demonstrate the suitability of Hollow-Core Photonic Crystal Fibers (HC-PCF) for multiwatt average power pulse compression. We spectrally broadened picosecond pulses from a SESAM mode-locked thin disk laser in a xenon gas filled Kagome-type HC-PCF and compressed these pulses to below 250 fs with a hypocycloid-core fiber and 470 fs with a single cell core defect fiber. The compressed average output power of 7.2 W and 10.2 W at a pulse repetition rate of approximately 10 MHz corresponds to pulse energies of 0.7 µJ and 1 µJ and to peak powers of 1.6 MW and 1.7 MW, respectively. Further optimization of the fiber parameters should enable pulse compression to below 50 fs duration at substantially higher pulse energies.

  11. Soluble and insoluble fiber (image)

    MedlinePlus

    ... stool. There are two types of dietary fiber, soluble and insoluble. Soluble fiber retains water and turns to gel during ... and nutrient absorption from the stomach and intestine. Soluble fiber is found in foods such as oat ...

  12. Picosecond to femtosecond pulses from high power self mode-locked ytterbium rod-type fiber laser.

    PubMed

    Deslandes, Pierre; Perrin, Mathias; Saby, Julien; Sangla, Damien; Salin, François; Freysz, Eric

    2013-05-01

    We have designed an ytterbium rod-type fiber laser oscillator with tunable pulse duration. This system that delivers more than 10 W of average power is self mode-locked. It yields femtosecond to picosecond laser pulses at a repetition rate of 74 MHz. The pulse duration is adjusted by changing the spectral width of a band pass filter that is inserted in the laser cavity. Using volume Bragg gratings of 0.9 nm and 0.07 nm spectrum bandwidth, this oscillator delivers nearly Fourier limited 2.8 ps and 18.5 ps pulses, respectively. With a 4 nm interference filter, one obtains picosecond pulses that have been externally dechirped down to 130 fs.

  13. [Congenital heart diseases in clinical practice].

    PubMed

    Ratti, Carlo; Veronesi, Benedetta; Grassi, Laura; Bompani, Bruno

    2012-05-01

    Congenital heart diseases are abnormalities in the heart's structure that are present at birth. Some are known to be associated with genetic disorders. They affect 8 out of every 1,000 newborns. They range from simple defects with no symptoms to complex defects. They are divided in two types: cyanotic and not cyanotic.

  14. [Congenital heart disease in Mexico. Regionalization proposal].

    PubMed

    Calderón-Colmenero, Juan; Cervantes-Salazar, Jorge Luis; Curi-Curi, Pedro José; Ramírez-Marroquín, Samuel

    2010-01-01

    Congenital cardiopathies are the most frequent congenital malformations. Reports of its prevalence around the world range from 2.1 to 12.3 for every 1000 newborns. Prevalence in our country remains unknown, but it probably occupies sixth place for mortality in infants less than a year old, and third place for mortality in those aged between 1 and 4 years. Based on birthrate, it is calculated that 10 to 12 000 infants in our country have some cardiac malformation. To understand the magnitude of the problem, it is important to identify the global number of newborns with some congenital cardiopathy each year and the type of malformation that they have, in order to determine the necessary resources and to plan their distribution. The main objective of regionalization is the justification of the resources with an emphasis in the specialized medical services to provide the best results for the patients. Hence, reason, based on the resources of each state, as well as their natality and infant mortality rates related to congenital cardiovascular pathology, we should proceed to regionalize the attention, and to simultaneously create a trustworthy database of the congenital cardiopathies. This should have many benefits, such as increase the number of total attended cases, improve the quality of attention, use appropriately the existent resources, and -surely- decrease the infant mortality.

  15. Genetic Syndromes associated with Congenital Heart Disease

    PubMed Central

    2015-01-01

    Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease. PMID:26413101

  16. Reduction of type IIb myosin and IIB fibers in tibialis anterior muscle of mini-muscle mice from high-activity lines.

    PubMed

    Bilodeau, Geneviève M; Guderley, Helga; Joanisse, Denis R; Garland, Theodore

    2009-03-01

    Selective breeding of laboratory house mice (Mus domesticus) for high voluntary wheel running has generated four replicate lines that show an almost threefold increase in daily wheel-running distances as compared with four nonselected control lines. An unusual hindlimb "mini-muscle" phenotype (small muscles, increased mitochondrial enzyme levels, disorganized fiber distribution) has increased in frequency in two of the four replicate selected lines. The gene of major effect that accounts for this phenotype is an autosomal recessive that has been mapped to a 2.6335 Mb interval on MMU11, but not yet identified. This study examined the tibialis anterior muscle to determine whether changes in muscle fiber types could explain such modifications in muscle size and properties. Although selected and control lines did not exhibit systematic differences in the fiber types present in the tibialis anterior muscle, as assessed by electrophoresis of myosin heavy chains (MHC) and by histochemistry, mini-muscle mice lacked type IIB fibers and the corresponding MHCs. Mini-muscle tibialis show increased activities of hexokinase and citrate synthase compared with the normally sized muscles, likely the result of the modified fiber types in the muscle. The mini-muscle phenotype is the major means through which selective breeding for high wheel running has modified the functional capacities of the hindlimb muscles, as normally sized tibialis anterior muscles from control and selected lines did not show general differences in their enzymatic capacities, MHC profiles or fiber type composition, with the exception of an elevated hexokinase activity and a reduced GPa activity in the selected lines. PMID:19177556

  17. Fiber Optics Technology.

    ERIC Educational Resources Information Center

    Burns, William E.

    1986-01-01

    Discusses various applications of fiber optics technology: information systems, industrial robots, medicine, television, transportation, and training. Types of jobs that will be available with fiber optics training (such as electricians and telephone cable installers and splicers) are examined. (CT)

  18. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    PubMed

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD. PMID:25497206

  19. Comparison of toluene adsorption among granular activated carbon and different types of activated carbon fibers (ACFs).

    PubMed

    Balanay, Jo Anne G; Crawford, Shaun A; Lungu, Claudiu T

    2011-10-01

    Activated carbon fiber (ACF) has been demonstrated to be a good adsorbent for the removal of organic vapors in air. Some ACF has a comparable or larger surface area and higher adsorption capacity when compared with granular activated carbon (GAC) commonly used in respiratory protection devices. ACF is an attractive alternative adsorbent to GAC because of its ease of handling, light weight, and decreasing cost. ACF may offer the potential for short-term respiratory protection for first responders and emergency personnel. This study compares the critical bed depths and adsorption capacities for toluene among GAC and ACF of different forms and surface areas. GAC and ACF in cloth (ACFC) and felt (ACFF) forms were challenged in stainless steel chambers with a constant concentration of 500 ppm toluene via conditioned air at 25°C, 50% RH, and constant airflow (7 L/min). Breakthrough data were obtained for each adsorbent using gas chromatography with flame ionization detector. Surface areas of each adsorbent were determined using a physisorption analyzer. Results showed that the critical bed depth of GAC is 275% higher than the average of ACFC but is 55% lower than the average of ACFF. Adsorption capacity of GAC (with a nominal surface area of 1800 m(2)/g) at 50% breakthrough is 25% higher than the average of ACF with surface area of 1000 m(2)/g, while the rest of ACF with surface area of 1500 m(2)/g and higher have 40% higher adsorption capacities than GAC. ACFC with higher surface area has the smallest critical bed depth and highest adsorption capacity, which makes it a good adsorbent for thinner and lighter respirators. We concluded that ACF has great potential for application in respiratory protection considering its higher adsorption capacity and lower critical bed depth in addition to its advantages over GAC, particularly for ACF with higher surface area.

  20. Adults with Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Web Booklet: Adults With Congenital Heart Defects Updated:Apr ... topic from the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: ...

  1. Parenting Styles and the Depressive Syndrome in Congenitally Blind Individuals.

    ERIC Educational Resources Information Center

    Lambert, Robert; West, Malcolm

    1980-01-01

    The article discusses the effect on congenitally blind children of three types of parents: those who are overprotective, those who push the child toward independence too soon, and those who are "good enough." (Author)

  2. Selected cases from the Arkadi M. Rywlin international pathology slide series: granular cell nevus of congenital type: a melanocytic proliferation exhibiting distinct morphologic, immunohistochemical, and ultrastructural features.

    PubMed

    De Pellegrin, Alessandro; Luzar, Bostjan; Suster, Saul; Falconieri, Giovanni

    2015-07-01

    A case of combined melanocytic nevus characterized by extensive granular cytoplasmic changes is described. Clinically, the lesion presented as an irregular, slightly asymmetric, and raised pigmented lesion of back with indistinct borders. Microscopically, a congenital pattern of distribution of melanocytes could be recognized growing along follicular and adnexal units. Melanocytes were arranged in sheets of epithelioid cells with abundant granular cytoplasm. A minor component featuring conventional dermal melanocytes was also present. Mitotic figures were not recognized. Immunohistochemistry was positive for Melan A and S100 protein in both conventional melanocytes and granular cells. In addition, the granular cells were also strongly positive for HMB45 and NKI-C3. The proliferative marker Ki67/MIB1 was nonreactive. Ultrastructural examination showed large cells with round to oval nuclei and numerous scattered cytoplasmic granules showing features consistent with lysosomes or autophagosomes. No premelanosomes, glycogen, lipid, or other distinctive organelles could be identified. Clinical follow-up at 2 years was uneventful. This unusual lesion may represent a peculiar dermal melanocytic proliferation in which the abundant granular cytoplasm is most likely due to degeneration of melanosomes induced by autophagocytic activity. The striking cytoplasmic granularity observed in this lesion may lead to confusion with other conditions, thus warranting adding granular cell nevus to the phenotypic spectrum of benign melanocytic proliferations.

  3. Congenital tracheobronchial stenosis.

    PubMed

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. PMID:27301600

  4. Two cases of spontaneous regression of congenital cholesteatomas.

    PubMed

    Kodama, Kozue; Hara, Mariko; Hasegawa, Masayo; Matsuzawa, Shingo; Shinnabe, Masahiro; Kanazawa, Hiromi; Yoshida, Naohiro; Iino, Yukiko

    2012-01-01

    Congenital cholesteatoma arises behind a normal, intact tympanic membrane and is most plausibly explained by the persistence of fetal epidermoid formation. It is generally accepted that cholesteatoma in children has greater aggressive growth activity than that in adults. The congenital type of cholesteatoma starts as a small pearl in the middle ear and eventually grows to involve the ossicles and then the attic and mastoid, causing varying degrees of destruction and functional impairment. However, here we report the cases of two children with congenital cholesteatoma which disappeared spontaneously during the follow-up period. To the best of our knowledge, this is the first report on the spontaneous regression of congenital cholesteatoma. On the basis of the two cases, we could take a "wait and watch" attitude for congenital cholesteatoma in the absence of severe infection, hearing loss, or bone destruction in the middle ear. PMID:21978906

  5. Congenital muscular torticollis.

    PubMed

    Nilesh, Kumar; Mukherji, Srijon

    2013-07-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy.

  6. Congenital muscular torticollis

    PubMed Central

    Nilesh, Kumar; Mukherji, Srijon

    2013-01-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy. PMID:24205484

  7. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  8. Urinary liver-type fatty acid-binding protein in septic shock: effect of polymyxin B-immobilized fiber hemoperfusion.

    PubMed

    Nakamura, Tsukasa; Sugaya, Takeshi; Koide, Hikaru

    2009-05-01

    We aimed to determine retrospectively whether urinary liver-type fatty acid-binding protein (L-FABP) levels are altered in patients with septic shock or severe sepsis without shock and whether polymyxin B-immobilized fiber (PMX-F) hemoperfusion affects these levels. Forty patients with septic shock, 20 patients with severe sepsis without shock, 20 acute renal failure (ARF) patients without septic shock (mean serum creatinine, 2.8 mg/dL), and 30 healthy volunteers were included in this study. Polymyxin B-immobilized fiber hemoperfusion was performed twice in 40 patients. In addition, 10 patients with septic shock without PMX-F treatment (conventional treatment) were also enrolled in this study. Their families did not choose PMX-F treatment. Thus, their informed consents to perform PMX-F treatment were not obtained. Septic shock or severe sepsis was defined by the American College of Chest Physicians/Society of Critical Care Medicine Consensus Conference Committee. Patients with septic shock were eligible for inclusion in the study if they had a definable source of infection and/or positive blood cultures. Patients with cardiogenic or hemorrhagic shock were excluded from the study. The patients were not randomly allocated to receive PMX-F treatment. Urinary and serum L-FABP levels were measured by enzyme-linked immunosorbent assay method. Plasma endotoxin levels in patients with septic shock were significantly higher than those in patients with severe sepsis (P < 0.05), patients with ARF (P < 0.001), and healthy subjects (P < 0.001). Urinary L-FABP levels in patients with septic shock were significantly higher than those in patients with severe sepsis without shock (P < 0.001), patients with ARF (P < 0.001), and healthy subjects (P < 0.001), whereas serum L-FABP levels showed no significant differences between patients with septic shock, patients with severe sepsis, patients with ARF, and healthy subjects. Urinary L-FABP was not correlated with serum L-FABP. Twenty

  9. Improving gene transfer in human renal carcinoma cells: Utilization of adenovirus vectors containing chimeric type 5 and type 35 fiber proteins

    PubMed Central

    ACHARYA, BISHNU; TERAO, SHUJI; SUZUKI, TORU; NAOE, MICHIO; HAMADA, KATSUYUKI; MIZUGUCHI, HIROYUKI; GOTOH, AKINOBU

    2010-01-01

    The transduction efficacy of adenovirus serotype 5 (Ad5) vector in human renal carcinoma cells is generally low due to the down-regulated expression of Coxsackie and adenovirus receptor (CAR) in target cells. By contrast, the infectivity of adenovirus serotype 35 vectors depends on the binding rate to CD46 receptor, independent of CAR. In this study, we examined whether an adenovirus vector containing chimeric type 5 and type 35 fiber proteins (Ad5/F35) increases transduction efficiency compared to Ad5 vector in human renal carcinoma cells in vitro. The expression of CAR was much lower in the human renal carcinoma cells than in control HEK293 cells. By contrast, the expression of CD46 was similar and perhaps at a higher level in the human renal carcinoma cells than in the HEK293 cells. The transduction efficacy of Ad5/F35 vector was dramatically higher compared to that of Ad5 in human renal carcinoma cells, and was correlated to the expression of CD46. Thus, Ad5/35 vector may be useful for the development of novel gene therapy approaches to renal cell carcinoma. PMID:22993573

  10. Improving gene transfer in human renal carcinoma cells: Utilization of adenovirus vectors containing chimeric type 5 and type 35 fiber proteins.

    PubMed

    Acharya, Bishnu; Terao, Shuji; Suzuki, Toru; Naoe, Michio; Hamada, Katsuyuki; Mizuguchi, Hiroyuki; Gotoh, Akinobu

    2010-05-01

    The transduction efficacy of adenovirus serotype 5 (Ad5) vector in human renal carcinoma cells is generally low due to the down-regulated expression of Coxsackie and adenovirus receptor (CAR) in target cells. By contrast, the infectivity of adenovirus serotype 35 vectors depends on the binding rate to CD46 receptor, independent of CAR. In this study, we examined whether an adenovirus vector containing chimeric type 5 and type 35 fiber proteins (Ad5/F35) increases transduction efficiency compared to Ad5 vector in human renal carcinoma cells in vitro. The expression of CAR was much lower in the human renal carcinoma cells than in control HEK293 cells. By contrast, the expression of CD46 was similar and perhaps at a higher level in the human renal carcinoma cells than in the HEK293 cells. The transduction efficacy of Ad5/F35 vector was dramatically higher compared to that of Ad5 in human renal carcinoma cells, and was correlated to the expression of CD46. Thus, Ad5/35 vector may be useful for the development of novel gene therapy approaches to renal cell carcinoma.

  11. Human epidemiology: a review of fiber type and characteristics in the development of malignant and nonmalignant disease.

    PubMed

    Merchant, J A

    1990-08-01

    Consideration of the human epidemiology of diseases arising from exposure to naturally occurring and man-made mineral fibers encompasses the several forms of asbestos (chrysotile, crocidolite, amosite, anthophyllite, tremolite-actinolite), other naturally occurring silicates (talc, sepiolite, erionite, attapulgite, vermiculite, and wollastonite), and man-made mineral fibers (glass continuous filament, glass/rock/slag insulation wools, ceramic and other refractory fibers, and glass microfibers). The diseases arising from exposures to some of these fibers include pleural thickening (plaques, diffuse pleural thickening, and calcification), pulmonary fibrosis, lung cancers, mesothelioma of the pleura and peritoneum, and other cancers). Risk factors important in assessing these diseases include assessment of latency, duration of exposure, cumulative exposure, fiber origin and characteristics (length and diameter), other possible confounding occupational or environmental exposures, and smoking. Methodological issues commonly presenting problems in evaluation of these data include assessment of the adequacy of environmental exposures, particularly in regard to fiber identification, distribution, and concentration over the duration of exposure, and the adequacy of study design to detect health effects (disease frequency, latency, and cohort size). Research priorities include further assessment and standardization of pleural thickening relative to fiber exposure, uniform mesothelioma surveillance, further epidemiological assessment of certain silicate and man-made mineral fiber cohorts with emphasis given to assessment of tremolite and small diameter glass and ceramic fibers. Further assessment of possible health risks of the general public should await improved definition of relevant fiber exposure in ambient air.

  12. Liver fibrosis in elderly cadavers: localization of collagen types I, III, and IV, α-smooth muscle actin, and elastic fibers.

    PubMed

    Mak, Ki M; Chu, Edward; Lau, K H Vincent; Kwong, Allison J

    2012-07-01

    We have shown a high prevalence of liver fibrosis in elderly cadavers with diverse causes of death by Sirius red stain; however, the various collagen types in these samples have yet to be evaluated. To further characterize the histopathology of the fibrotic lesions in the livers of these elderly cadavers, this study used immunohistochemistry and histochemistry to identify the principal collagens produced in liver fibrosis, fibrogenic cells and elastic fibers. Collagen I and III immunoreactions were found to colocalize in collagen fibers of fibrotic central veins, perisinusoidal fibrotic foci, portal tract stroma, and fibrous septa. α-Smooth muscle actin-expressing perisinusoidal hepatic stellate cells (HSCs), as well as perivenular, portal, and septal myofibroblasts, were closely associated with collagen fibers, reflecting their fibrogenic functions. HSCs and myofibroblasts were also noted to express collagen IV, which may contribute to production of basal lamina-like structures. In fibrotic livers, the sinusoidal lining showed variable immunostaining for collagen IV. Collagen IV immunostaining revealed vascular proliferation and atypical ductular reaction at the portal-septal parenchymal borders, as well as capillary-like vessels in the lobular parenchyma. While elastic fibers were absent in the space of Disse, they were found to codistribute with collagens in portal tracts, fibrous septa and central veins. Our combined assessment of collagen types, HSCs, myofibroblasts, and elastic fibers is significant in understanding the histopathology of fibrosis in the aging liver.

  13. Impact of index change saturation on the growth behavior of higher-order type I ultrafast induced fiber Bragg gratings

    SciTech Connect

    Smelser, Christopher W.; Mihailov, Stephen J.; Grobnic, Dan

    2008-05-15

    Ultrafast infrared induced fiber Bragg gratings in a hydrogen-loaded SMF-28 fiber are shown to exhibit complex and, what we believe to be, novel spectral evolutions. It is believed that the induced grating peak profile in the fiber is nonsinusoidal as a result of the nonlinear absorption required to modify the material. Rouard's method is used to show that the observed spectral evolution is a consequence of the saturation of the nonsinusoidal index change profile.

  14. The congenital cranial dysinnervation disorders.

    PubMed

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. PMID:25633065

  15. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  16. [Diagnosis of congenital infection].

    PubMed

    Sampedro Martínez, Antonio; Martínez, Luis Aliaga; Teatino, Pablo Mazuelas; Rodríguez-Granger, Javier

    2011-12-01

    In general, congenital diagnosis is based on: a) maternal serologic assays; b) microbiologic study of amniotic fluid or fetal blood sampling; and c) serology in children and microorganism detection by polymerase chain reaction (PCR) or culture. Congenital infections due to cytomegalovirus, herpes simplex, varicella, B19 erythrovirus and toxoplasmosis are usually the result of primary infection in the mother. Therefore, when IgG antibodies are detected before pregnancy, these infections are ruled out. Definitive serologic diagnosis of acute infection in pregnant women requires the demonstration of seroconversion (i.e., from seronegative to seropositive). In these cases, amniotic fluid or fetal blood sampling should be performed to determine the presence of intrauterine congenital infection. Cytomegalovirus, rubella and toxoplasmosis can be diagnosed by detection of specific IgM antibodies in fetal blood. However, PCR in amniotic fluid has replaced conventional prenatal diagnostic techniques, including fetal blood sampling, in the diagnosis of these infections. In the newborn, these infections may be confirmed by measuring IgM specific antibodies. B19 erythrovirus can be detected by PCR in amniotic fluid or fetal blood. Congenital varicella-zoster infection may be diagnosed on the basis of persistence of IgG antibodies after birth. Definitive diagnosis of herpes simplex virus infection requires viral isolation. Swabs or scraping from clinical specimens can be inoculated into susceptible cell lines for isolation. PMID:22305665

  17. Congenital complete atrioventricular block.

    PubMed Central

    Kertesz, N J; Fenrich, A L; Friedman, R A

    1997-01-01

    Congenital complete atrioventricular block is found in 1 of 22,000 live births. Over time, it has become apparent that these patients represent not a single distinct disease process, but several processes with the common manifestation of atrioventricular block. The evaluation of these patients to determine their risk of sudden death and need for pacing is not well defined. Images PMID:9456483

  18. Congenital Midline Cervical Cleft

    PubMed Central

    Villanueva-Meyer, Javier; Glastonbury, Christine; Marcovici, Peter

    2015-01-01

    Congenital midline cervical cleft is a rare anomaly that typically presents in the neonatal period as a thin suprasternal vertical band of erythematous skin with a nipple-like projection superiorly, which may exude fluid. We present the clinical and pathophysiologic features and the imaging findings of this uncommon, and rarely described entity in a newborn girl. PMID:25926928

  19. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  20. Congenital Heart Information Network

    MedlinePlus

    ... Barmash and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  1. Autism and Congenital Blindness.

    ERIC Educational Resources Information Center

    Hobson, R. Peter; Lee, Anthony; Brown, Rachel

    1999-01-01

    This study compared a group of nine children (ages 3 to 8) with congenital blindness and an autism-like syndrome with nine sighted children. Children with autism had more severe abnormalities in terms of their relationships with people and emotional expressions, and were more impaired in the area of pretend play. (CR)

  2. Multiple congenital coagulation deficiencies.

    PubMed

    BONNIN, J A; HICKS, N D; INNIS, M D; SIMPSON, D A

    1960-07-01

    A 6-week-old infant is presented who suffered from a congenital haemorrhagic disorder which caused death from subdural haemorrhage following mild trauma. Haematological investigation revealed deficiencies of factor VII and Christmas factor. Prower-Stuart factor was probably also deficient although investigation of this clotting factor was carried out only on serum obtained at necropsy.

  3. Human epidemiology: A review of fiber type and characteristics in the development of malignant and nonmalignant disease

    SciTech Connect

    Merchant, J.A. )

    1990-08-01

    Consideration of the human epidemiology of diseases arising from exposure to naturally occurring and man-made mineral fibers encompasses the several forms of asbestos, other naturally occurring silicates, and man-made mineral fibers. The diseases arising from exposures to some of these fibers include pleural thickening, pulmonary fibrosis, lung cancers, mesothelioma of the pleura and peritoneum, and other cancers. Risk factors important in assessing these diseases include assessment of latency, duration of exposure, cumulative exposure, fiber origin and characteristics, other possible confounding occupational or environmental exposures, and smoking. Methodological issues commonly presenting problems in evaluation of these data include assessment of the adequacy of environmental exposures, particularly in regard to fiber identification, distribution, and concentration over the duration of exposure, and the adequacy of study design to detect health effects. Research priorities include further assessment and standardization of pleural thickening relative to fiber exposure, uniform mesothelioma surveillance, further epidemiological assessment of certain silicate and man-made mineral fiber cohorts with emphasis given to assessment of tremolite and small diameter glass and ceramic fibers. Further assessment of possible health risks of the general public should await improved definition of relevant fiber exposure in ambient air.

  4. Motor unit reorganization in progressive muscular dystrophies and congenital myopathies.

    PubMed

    Szmidt-Sałkowska, Elżbieta; Gaweł, Małgorzata; Lipowska, Marta

    2015-01-01

    The aim of this study was to analyze motor unit reorganization in different types of progressive muscular dystrophies and congenital myopathies. The study population consisted of patients with genetically verified progressive muscular dystrophies: Duchenne (DMD) (n=54), Becker (BMD) (n=30), facio-scapulo-humeral (FSHD) (n=37), and Emery-Dreifuss (E-DD) (n=26). Patients with probable limb-girdle dystrophy (L-GD) (n=58) and congenital myopathies (n=35) were also included in the study. Quantitative EMG recordings were obtained from 469 muscles. Muscle activity at rest and during slight voluntary and maximal muscle contraction was analyzed. The motor unit activity potential (MUAP) duration, amplitude, area, size index (SI), polyphasicity, and the presence of "outliers" were evaluated. Diminished values of MUAP parameters and decreased maximal amplitude of maximal muscle contraction were recorded most frequently in DMD and mainly in the biceps brachii muscles. SI was the most frequently changed EMG parameter. "Outliers" with amplitude below the normal range were recorded more frequently then a decreased mean MUAP amplitude (what could indicate a very high sensitivity of this EMG parameter). Pathological interference pattern was recorded in 34.7% of biceps brachii and in 21.2% of rectus femoris muscles. In FSHD, decreased MUAP duration and SI and pathological interference pattern with low amplitude were recorded most frequently in the tibial anterior and deltoid muscles. The presence of potentials with reduced parameters is a result of decreasing motor unit area (reduced number and size of muscle fibers), while high amplitude potentials recorded in BMD and E-DD could indicate a slow and mild course of disease and muscle regeneration.

  5. Motor unit reorganization in progressive muscular dystrophies and congenital myopathies.

    PubMed

    Szmidt-Sałkowska, Elżbieta; Gaweł, Małgorzata; Lipowska, Marta

    2015-01-01

    The aim of this study was to analyze motor unit reorganization in different types of progressive muscular dystrophies and congenital myopathies. The study population consisted of patients with genetically verified progressive muscular dystrophies: Duchenne (DMD) (n=54), Becker (BMD) (n=30), facio-scapulo-humeral (FSHD) (n=37), and Emery-Dreifuss (E-DD) (n=26). Patients with probable limb-girdle dystrophy (L-GD) (n=58) and congenital myopathies (n=35) were also included in the study. Quantitative EMG recordings were obtained from 469 muscles. Muscle activity at rest and during slight voluntary and maximal muscle contraction was analyzed. The motor unit activity potential (MUAP) duration, amplitude, area, size index (SI), polyphasicity, and the presence of "outliers" were evaluated. Diminished values of MUAP parameters and decreased maximal amplitude of maximal muscle contraction were recorded most frequently in DMD and mainly in the biceps brachii muscles. SI was the most frequently changed EMG parameter. "Outliers" with amplitude below the normal range were recorded more frequently then a decreased mean MUAP amplitude (what could indicate a very high sensitivity of this EMG parameter). Pathological interference pattern was recorded in 34.7% of biceps brachii and in 21.2% of rectus femoris muscles. In FSHD, decreased MUAP duration and SI and pathological interference pattern with low amplitude were recorded most frequently in the tibial anterior and deltoid muscles. The presence of potentials with reduced parameters is a result of decreasing motor unit area (reduced number and size of muscle fibers), while high amplitude potentials recorded in BMD and E-DD could indicate a slow and mild course of disease and muscle regeneration. PMID:26188938

  6. Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes.

    PubMed

    Norman, Barbara; Esbjörnsson, Mona; Rundqvist, Håkan; Osterlund, Ted; von Walden, Ferdinand; Tesch, Per A

    2009-03-01

    Alpha-actinins are structural proteins of the Z-line. Human skeletal muscle expresses two alpha-actinin isoforms, alpha-actinin-2 and alpha-actinin-3, encoded by their respective genes ACTN2 and ACTN3. ACTN2 is expressed in all muscle fiber types, while only type II fibers, and particularly the type IIb fibers, express ACTN3. ACTN3 (R577X) polymorphism results in loss of alpha-actinin-3 and has been suggested to influence skeletal muscle function. The X allele is less common in elite sprint and power athletes than in the general population and has been suggested to be detrimental for performance requiring high power. The present study investigated the association of ACTN3 genotype with muscle power during 30-s Wingate cycling in 120 moderately to well-trained men and women and with knee extensor strength and fatigability in a subset of 21 men performing isokinetic exercise. Muscle biopsies were obtained from the vastus lateralis muscle to determine fiber-type composition and ACTN2 and ACTN3 mRNA levels. Peak and mean power and the torque-velocity relationship and fatigability output showed no difference across ACTN3 genotypes. Thus this study suggests that R577X polymorphism in ACTN3 is not associated with differences in power output, fatigability, or force-velocity characteristics in moderately trained individuals. However, repeated exercise bouts prompted an increase in peak torque in RR but not in XX genotypes, suggesting that ACTN3 genotype may modulate responsiveness to training. Our data further suggest that alpha-actinins do not play a significant role in determining muscle fiber-type composition. Finally, we show that ACTN2 expression is affected by the content of alpha-actinin-3, which implies that alpha-actinin-2 may compensate for the lack of alpha-actinin-3 and hence counteract the phenotypic consequences of the deficiency.

  7. Effects of Two Different Weight Training Programs on Swimming Performance and Muscle Enzyme Activities and Fiber Type.

    PubMed

    Belfry, Glen R; Noble, Earl G; Taylor, Albert W

    2016-02-01

    The effects of 2 different weight training programs incorporating bench press (BP) and pullover (PO) exercises on swimming performance, power, enzyme activity, and fiber type distribution were studied on 16 men (age = 23 ± 4 years). A 30-second group (n = 6) performed up to 20 repetitions of BP and PO in 30 seconds. The 2-minute group (n = 6) performed a maximum of 80 repetitions of BP and PO in 2 minutes. As participants reached the prescribed 20 or 80 repetitions, the weight was increased 4.5 kg. A third group (n = 4) served as nontraining controls. Exercise groups trained 3 times per week for 6 weeks. Maximal effort swims of 50 and 200 yd were performed before and after training. Training resulted in increases in work on both exercises in both groups pre- to post-training (BP 30 seconds, 722 ± 236-895 ± 250 kg; PO 30 seconds, 586 ± 252-1,090 ± 677 kg; and BP 2 minutes, 1,530 ± 414-1,940 ± 296; PO 2 minutes, 1,212 ± 406-2,348 ± 194, p ≤ 0.05). Swim performances of the 30-second group improved for both the 50-yd (32.0 ± 6.9 seconds, 30.0 ± 5.9 seconds, p ≤ 0.05) and 200-yd swims 200.0 ± 54 seconds, 182 ± 45.1 seconds (p ≤ 0.05), whereas 2-minute training improved only the 200-yd swim (198.3 ± 32.3 seconds, 186.2 ± 32.2 seconds). No changes in swim performance were observed for the control group. Triceps muscle succinate dehydrogenase activities increased (pre 3.48 ± 1.1 μmol · g(-1) wet weight per minute, post 6.25 ± 1.5 μmoles · g(-1) wet weight per minute, p ≤ 0.05) in only the 30-second training group, whereas phosphofructokinase activities and fiber type distribution did not change in either training group. This study has demonstrated that a 30-second 20-repetition weight training program, specific to the swimming musculature without concurrent swim training, improves swimming performances at both 50- and 200-yd distances. PMID:26815172

  8. Effects of Two Different Weight Training Programs on Swimming Performance and Muscle Enzyme Activities and Fiber Type.

    PubMed

    Belfry, Glen R; Noble, Earl G; Taylor, Albert W

    2016-02-01

    The effects of 2 different weight training programs incorporating bench press (BP) and pullover (PO) exercises on swimming performance, power, enzyme activity, and fiber type distribution were studied on 16 men (age = 23 ± 4 years). A 30-second group (n = 6) performed up to 20 repetitions of BP and PO in 30 seconds. The 2-minute group (n = 6) performed a maximum of 80 repetitions of BP and PO in 2 minutes. As participants reached the prescribed 20 or 80 repetitions, the weight was increased 4.5 kg. A third group (n = 4) served as nontraining controls. Exercise groups trained 3 times per week for 6 weeks. Maximal effort swims of 50 and 200 yd were performed before and after training. Training resulted in increases in work on both exercises in both groups pre- to post-training (BP 30 seconds, 722 ± 236-895 ± 250 kg; PO 30 seconds, 586 ± 252-1,090 ± 677 kg; and BP 2 minutes, 1,530 ± 414-1,940 ± 296; PO 2 minutes, 1,212 ± 406-2,348 ± 194, p ≤ 0.05). Swim performances of the 30-second group improved for both the 50-yd (32.0 ± 6.9 seconds, 30.0 ± 5.9 seconds, p ≤ 0.05) and 200-yd swims 200.0 ± 54 seconds, 182 ± 45.1 seconds (p ≤ 0.05), whereas 2-minute training improved only the 200-yd swim (198.3 ± 32.3 seconds, 186.2 ± 32.2 seconds). No changes in swim performance were observed for the control group. Triceps muscle succinate dehydrogenase activities increased (pre 3.48 ± 1.1 μmol · g(-1) wet weight per minute, post 6.25 ± 1.5 μmoles · g(-1) wet weight per minute, p ≤ 0.05) in only the 30-second training group, whereas phosphofructokinase activities and fiber type distribution did not change in either training group. This study has demonstrated that a 30-second 20-repetition weight training program, specific to the swimming musculature without concurrent swim training, improves swimming performances at both 50- and 200-yd distances.

  9. Cost-of-illness analysis reveals potential healthcare savings with reductions in type 2 diabetes and cardiovascular disease following recommended intakes of dietary fiber in Canada

    PubMed Central

    Abdullah, Mohammad M. H.; Gyles, Collin L.; Marinangeli, Christopher P. F.; Carlberg, Jared G.; Jones, Peter J. H.

    2015-01-01

    Background: Type 2 diabetes (T2D) and cardiovascular disease (CVD) are leading causes of mortality and two of the most costly diet-related ailments worldwide. Consumption of fiber-rich diets has been repeatedly associated with favorable impacts on these co-epidemics, however, the healthcare cost-related economic value of altered dietary fiber intakes remains poorly understood. In this study, we estimated the annual cost savings accruing to the Canadian healthcare system in association with reductions in T2D and CVD rates, separately, following increased intakes of dietary fiber by adults. Methods: A three-step cost-of-illness analysis was conducted to identify the percentage of individuals expected to consume fiber-rich diets in Canada, estimate increased fiber intakes in relation to T2D and CVD reduction rates, and independently assess the potential annual savings in healthcare costs associated with the reductions in rates of these two epidemics. The economic model employed a sensitivity analysis of four scenarios (universal, optimistic, pessimistic, and very pessimistic) to cover a range of assumptions within each step. Results: Non-trivial healthcare and related savings of CAD$35.9-$718.8 million in T2D costs and CAD$64.8 million–$1.3 billion in CVD costs were calculated under a scenario where cereal fiber was used to increase current intakes of dietary fiber to the recommended levels of 38 g per day for men and 25 g per day for women. Each 1 g per day increase in fiber consumption resulted in annual CAD$2.6 to $51.1 million savings for T2D and $4.6 to $92.1 million savings for CVD. Conclusion: Findings of this analysis shed light on the economic value of optimal dietary fiber intakes. Strategies to increase consumers’ general knowledge of the recommended intakes of dietary fiber, as part of healthy diet, and to facilitate stakeholder synergy are warranted to enable better management of healthcare and related costs associated with T2D and CVD in Canada. PMID

  10. An ultrastructural and histochemical study of the flexor tibialis muscle fiber types in male and female stick insects (Eurycantha calcarata, L).

    PubMed

    Pilehvarian, Ali Asghar

    2015-10-01

    In this study the ultrastructural and histochemical characteristics of the flexor tibialis muscle fibers of the specialized metathoracic legs in the male and those of homologous and unspecialized ones in the female stick insects, Eurycantha calcarata, L, were examined. For the ultrastructural analysis, the muscle was divided longitudinally and vertically to produce a total of 12 sample parts e.g., anterior-dorsal-distal (ADD), posterior-ventral-medial (PVM) and so on. Light and electron microscopes were used to observe the muscle tissue. The methods for myosin adenosine triphosphatase (mATPase) and nicotine adenine dinucleotide- tetrazolium (NADH-TR) staining were modified from the methods of (Stokes et al., '79; Anttila et al., 2009; Anttila and Manttari, 2009). Sections with thickness of 22 μm, were cut from the anterior and the posterior surfaces of the muscle, using a cryostat. The histochemical and ultrastructural results showed that the muscles of both the male and the female were mixtures of physiological fiber types, with predominantly fast fibers. The muscles were composed of fibers with different staining properties for both mATPase and NADH-TR activities. The population of fibers within the muscles was heterogeneous. The differences between the population of the male and that of the female were significant. The means of most criteria e.g., mitochondrial amount and sarcoplasmic reticulum area predicted that the muscle of the male contained more fast fibers than the female. The histochemical examination also showed that the muscle of the male contained more fibers stained darkly for mATPase and lightly for NADH-TR. PMID:26173440

  11. An ultrastructural and histochemical study of the flexor tibialis muscle fiber types in male and female stick insects (Eurycantha calcarata, L).

    PubMed

    Pilehvarian, Ali Asghar

    2015-10-01

    In this study the ultrastructural and histochemical characteristics of the flexor tibialis muscle fibers of the specialized metathoracic legs in the male and those of homologous and unspecialized ones in the female stick insects, Eurycantha calcarata, L, were examined. For the ultrastructural analysis, the muscle was divided longitudinally and vertically to produce a total of 12 sample parts e.g., anterior-dorsal-distal (ADD), posterior-ventral-medial (PVM) and so on. Light and electron microscopes were used to observe the muscle tissue. The methods for myosin adenosine triphosphatase (mATPase) and nicotine adenine dinucleotide- tetrazolium (NADH-TR) staining were modified from the methods of (Stokes et al., '79; Anttila et al., 2009; Anttila and Manttari, 2009). Sections with thickness of 22 μm, were cut from the anterior and the posterior surfaces of the muscle, using a cryostat. The histochemical and ultrastructural results showed that the muscles of both the male and the female were mixtures of physiological fiber types, with predominantly fast fibers. The muscles were composed of fibers with different staining properties for both mATPase and NADH-TR activities. The population of fibers within the muscles was heterogeneous. The differences between the population of the male and that of the female were significant. The means of most criteria e.g., mitochondrial amount and sarcoplasmic reticulum area predicted that the muscle of the male contained more fast fibers than the female. The histochemical examination also showed that the muscle of the male contained more fibers stained darkly for mATPase and lightly for NADH-TR.

  12. Composite Random Fiber Networks

    NASA Astrophysics Data System (ADS)

    Picu, Catalin; Shahsavari, Ali

    2013-03-01

    Systems made from fibers are common in the biological and engineering worlds. In many instances, as for example in skin, where elastin and collagen fibers are present, the fiber network is composite, in the sense that it contains fibers of very different properties. The relationship between microstructural parameters and the elastic moduli of random fiber networks containing a single type of fiber is understood. In this work we address a similar target for the composite networks. We show that linear superposition of the contributions to stiffness of individual sub-networks does not apply and interesting non-linear effects are observed. A physical basis of these effects is proposed.

  13. Eccentric contraction-induced injury to type I, IIa, and IIa/IIx muscle fibers of elderly adults

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Muscles of old laboratory rodents experience exaggerated force losses after eccentric contractile activity. We extended this line of inquiry to humans and investigated the influence of fiber myosin heavy chain (MHC) isoform content on the injury process. Skinned muscle fiber segments, prepared from ...

  14. The Bayesian Decoding of Force Stimuli from Slowly Adapting Type I Fibers in Humans

    PubMed Central

    Wright, James; Khamis, Heba; Birznieks, Ingvars; van Schaik, André

    2016-01-01

    It is well known that signals encoded by mechanoreceptors facilitate precise object manipulation in humans. It is therefore of interest to study signals encoded by the mechanoreceptors because this will contribute further towards the understanding of fundamental sensory mechanisms that are responsible for coordinating force components during object manipulation. From a practical point of view, this may suggest strategies for designing sensory-controlled biomedical devices and robotic manipulators. We use a two-stage nonlinear decoding paradigm to reconstruct the force stimulus given signals from slowly adapting type one (SA-I) tactile afferents. First, we describe a nonhomogeneous Poisson encoding model which is a function of the force stimulus and the force’s rate of change. In the decoding phase, we use a recursive nonlinear Bayesian filter to reconstruct the force profile, given the SA-I spike patterns and parameters described by the encoding model. Under the current encoding model, the mode ratio of force to its derivative is: 1.26 to 1.02. This indicates that the force derivative contributes significantly to the rate of change to the SA-I afferent spike modulation. Furthermore, using recursive Bayesian decoding algorithms is advantageous because it can incorporate past and current information in order to make predictions—consistent with neural systems—with little computational resources. This makes it suitable for interfacing with prostheses. PMID:27077750

  15. Development of a wavelength-separated type scintillator with optical fiber (SOF) dosimeter to compensate for the Cerenkov radiation effect.

    PubMed

    Ishikawa, Masayori; Nagase, Naomi; Matsuura, Taeko; Hiratsuka, Junichi; Suzuki, Ryusuke; Miyamoto, Naoki; Sutherland, Kenneth Lee; Fujita, Katsuhisa; Shirato, Hiroki

    2015-03-01

    The scintillator with optical fiber (SOF) dosimeter consists of a miniature scintillator mounted on the tip of an optical fiber. The scintillator of the current SOF dosimeter is a 1-mm diameter hemisphere. For a scintillation dosimeter coupled with an optical fiber, measurement accuracy is influenced by signals due to Cerenkov radiation in the optical fiber. We have implemented a spectral filtering technique for compensating for the Cerenkov radiation effect specifically for our plastic scintillator-based dosimeter, using a wavelength-separated counting method. A dichroic mirror was used for separating input light signals. Individual signal counting was performed for high- and low-wavelength light signals. To confirm the accuracy, measurements with various amounts of Cerenkov radiation were performed by changing the incident direction while keeping the Ir-192 source-to-dosimeter distance constant, resulting in a fluctuation of <5%. Optical fiber bending was also addressed; no bending effect was observed for our wavelength-separated SOF dosimeter.

  16. Development of a wavelength-separated type scintillator with optical fiber (SOF) dosimeter to compensate for the Cerenkov radiation effect

    PubMed Central

    Ishikawa, Masayori; Nagase, Naomi; Matsuura, Taeko; Hiratsuka, Junichi; Suzuki, Ryusuke; Miyamoto, Naoki; Sutherland, Kenneth Lee; Fujita, Katsuhisa; Shirato, Hiroki

    2015-01-01

    The scintillator with optical fiber (SOF) dosimeter consists of a miniature scintillator mounted on the tip of an optical fiber. The scintillator of the current SOF dosimeter is a 1-mm diameter hemisphere. For a scintillation dosimeter coupled with an optical fiber, measurement accuracy is influenced by signals due to Cerenkov radiation in the optical fiber. We have implemented a spectral filtering technique for compensating for the Cerenkov radiation effect specifically for our plastic scintillator-based dosimeter, using a wavelength-separated counting method. A dichroic mirror was used for separating input light signals. Individual signal counting was performed for high- and low-wavelength light signals. To confirm the accuracy, measurements with various amounts of Cerenkov radiation were performed by changing the incident direction while keeping the Ir-192 source-to-dosimeter distance constant, resulting in a fluctuation of <5%. Optical fiber bending was also addressed; no bending effect was observed for our wavelength-separated SOF dosimeter. PMID:25618136

  17. Viscoelastic properties of self-assembled type I collagen fibers: molecular basis of elastic and viscous behaviors.

    PubMed

    Silver, Frederick H; Ebrahimi, Ali; Snowhill, Patrick B

    2002-01-01

    We have studied the strain rate dependence of incremental stress-strain curves of self-assembled type I collagen fibers in an effort to understand the molecular phenomena that contribute to the macroscopic mechanical behavior of tendons. Results of viscoelastic tests at strain rates between 10% and 1000% per min suggest that the slope of the elastic stress-strain curve is to a first approximation independent of strain rate while the slope of the viscous stress-strain curve increases with increased strain rate. After correction of the slope of the viscous stress-strain curve for the changes in strain rate, it is observed that the apparent viscosity decreases with increased strain rate. It is concluded that the approximate strain rate independence of the elastic spring constant of collagen is consistent with the spring-like behavior of the 12 flexible regions that make up the collagen D-period. These regions are poor in the rigid amino acid residues proline and hydroxyproline. In contrast, the thixotropy of collagen is consistent with the slippage of subfibrillar subunits during tensile deformation. It is hypothesized that at high strain rates subfibrillar subunits appear to "hydroplane" by each other on a layer of loosely bound water. PMID:12685863

  18. Metformin Improves Insulin Signaling in Obese Rats via Reduced IKKbeta Action in a Fiber-Type Specific Manner.

    PubMed

    Bikman, Benjamin T; Zheng, Donghai; Kane, Daniel A; Anderson, Ethan J; Woodlief, Tracey L; Price, Jesse W; Dohm, G Lynis; Neufer, P Darrell; Cortright, Ronald N

    2010-01-01

    Metformin is a widely used insulin-sensitizing drug, though its mechanisms are not fully understood. Metformin has been shown to activate AMPK in skeletal muscle; however, its effects on the inhibitor of kappaB kinasebeta (IKKbeta) in this same tissue are unknown. The aim of this study was to (1) determine the ability of metformin to attenuate IKKbeta action, (2) determine whether changes in AMPK activity are associated with changes in IKKbeta action in skeletal muscle, and (3) examine whether changes in AMPK and IKKbeta function are consistent with improved insulin signaling. Lean and obese male Zuckers received either vehicle or metformin by oral gavage daily for four weeks (four groups of eight). Proteins were measured in white gastrocnemius (WG), red gastrocnemius (RG), and soleus. AMPK phosphorylation increased (P < .05) in WG in both lean (57%) and obese (106%), and this was supported by an increase in phospho-ACC in WG. Further, metformin increased IkappaBalpha levels in both WG (150%) and RG (67%) of obese rats, indicative of reduced IKKbeta activity (P < .05), and was associated with reduced IRS1-pSer(307) (30%) in the WG of obese rats (P < .02). From these data we conclude that metformin treatment appears to exert an inhibitory influence on skeletal muscle IKKbeta activity, as evidenced by elevated IkappaBalpha levels and reduced IRS1-Ser(307) phosphorylation in a fiber-type specific manner. PMID:20798864

  19. The health benefits of dietary fiber: beyond the usual suspects of type 2 diabetes, cardiovascular disease and colon cancer

    PubMed Central

    Kaczmarczyk, Melissa M.; Miller, Michael J.; Freund, Gregory G.

    2012-01-01

    Dietary fiber (DF) is deemed to be a key component in healthy eating. DF is not a static collection of undigestible plant materials that pass untouched or unencumbered through the gastrointestinal (GI) tract; instead, DFs are a vast array of complex saccharide-based molecules that can bind potential nutrients and nutrient precursors to prevent their absorption. Some DFs are fermentable, and the GI tract catabolism leads to the generation of various bioactive materials, such as short-chain fatty acids (SCFAs), that can markedly augment the GI tract biomass and change the composition of the GI tract flora. The health benefits of DFs include the prevention and mitigation of type 2 diabetes, cardiovascular disease and colon cancer. By modulating food ingestion, digestion, absorption and metabolism, DFs reduce the risk of hyperlipidemia, hypercholesterolemia and hyperglycemia. Emerging research has begun to investigate the role of DFs in immunomodulation. If substantiated, DFs could facilitate many biologic processes, including infection prevention and the improvement of mood and memory. This review describes the accepted physiologic functions of DFs and explores their new potential immune-based actions. PMID:22401879

  20. The health benefits of dietary fiber: beyond the usual suspects of type 2 diabetes mellitus, cardiovascular disease and colon cancer.

    PubMed

    Kaczmarczyk, Melissa M; Miller, Michael J; Freund, Gregory G

    2012-08-01

    Dietary fiber (DF) is deemed to be a key component in healthy eating. DF is not a static collection of undigestible plant materials that pass untouched or unencumbered through the gastrointestinal (GI) tract; instead, DFs are a vast array of complex saccharide-based molecules that can bind potential nutrients and nutrient precursors to prevent their absorption. Some DFs are fermentable, and the GI tract catabolism leads to the generation of various bioactive materials, such as short-chain fatty acids (SCFAs), that can markedly augment the GI tract biomass and change the composition of the GI tract flora. The health benefits of DFs include the prevention and mitigation of type 2 diabetes mellitus, cardiovascular disease and colon cancer. By modulating food ingestion, digestion, absorption and metabolism, DFs reduce the risk of hyperlipidemia, hypercholesterolemia and hyperglycemia. Emerging research has begun to investigate the role of DFs in immunomodulation. If substantiated, DFs could facilitate many biologic processes, including infection prevention and the improvement of mood and memory. This review describes the accepted physiologic functions of DFs and explores their new potential immune-based actions. PMID:22401879

  1. Downhill Running Excessive Training Inhibits Hypertrophy in Mice Skeletal Muscles with Different Fiber Type Composition.

    PubMed

    da Rocha, Alisson L; Pereira, Bruno C; Pauli, José R; de Souza, Claudio T; Teixeira, Giovana R; Lira, Fábio S; Cintra, Dennys E; Ropelle, Eduardo R; Júnior, Carlos R B; da Silva, Adelino S R

    2016-05-01

    The aim of this study was to verify the effects of running overtraining protocols performed in downhill, uphill, and without inclination on the proteins related to hypertrophy signaling pathway in extensor digitorum longus (EDL) and soleus of C57BL/6 mice. We also performed histological and stereological analyses. Rodents were divided into control (CT; sedentary mice), overtrained by downhill running (OTR/down), overtrained by uphill running (OTR/up), and overtrained by running without inclination (OTR). The incremental load, exhaustive, and grip force tests were used as performance evaluation parameters. 36 h after the grip force test, EDL and soleus were removed and immediately used for immunoblotting analysis or stored at -80°C for histological and stereological analyses. For EDL, OTR/down decreased the protein kinase B (Akt) and tuberous sclerosis protein 2 (TSC2) phosphorylation (p), and increased myostatin, receptor-activated Smads (pSMAD2-3), and insulin receptor substrate-1 (pIRS-1; Ser307/636). OTR/down also presented low and high relative proportions of cytoplasm and connective tissue, respectively. OTR/up increased the mammalian target of rapamycin (pmTOR), 70-kDa ribosomal protein S6 kinase 1 (pS6K1) and pSMAD2-3, and decreased pTSC2. OTR decreased pTSC2 and increased pIRS-1 (Ser636). For soleus, OTR/down increased S6 ribosomal protein (pS6RP) and pSMAD2-3, and decreased pIRS-1 (Ser639). OTR/up decreased pS6K1, pS6RP and pIRS-1 (Ser639), and increased pTSC2 (Ser939), and pSMAD2-3. OTR increased pS6RP, 4E-binding protein-1 (p4E-BP1), pTSC2 (Ser939), and pSMAD2-3, and decreased pIRS-1 (Ser639). In summary, OTR/down inhibited the skeletal muscle hypertrophy with concomitant signs of atrophy in EDL. The effects of OTR/up and OTR depended on the analyzed skeletal muscle type.

  2. A new family with congenital factor XIII deficiency showing a deficit of both subunit A and B. Type I factor XIII deficiency.

    PubMed

    Capellato, M G; Lazzaro, A R; Marafioti, F; Polato, G; Girolami, A

    1987-01-01

    In this study we present a new case of Factor XIII deficiency. The proposita, a 34 year old woman, showed a deficiency of both subunit a and subunit b, and a moderate bleeding tendency. Because of the concomitant decrease of subunits a and b the proposita is considered to be an example of Type I disease. Factor XIII levels were less than 10% both as activity and antigen. Several family members showed intermediate levels of both subunit a and b and were asymptomatic. They were considered to be heterozygotes. The hereditary pattern is autosomal incompletely recessive. Type I disease appears much less frequent than Type II.

  3. Bariatric Surgery Restores Cardiac and Sudomotor Autonomic C-Fiber Dysfunction towards Normal in Obese Subjects with Type 2 Diabetes

    PubMed Central

    Lieb, David C.; Wohlgemuth, Stephen D.

    2016-01-01

    Objective The aim was to evaluate the impact of bariatric surgery on cardiac and sudomotor autonomic C-fiber function in obese subjects with and without Type 2 diabetes mellitus (T2DM), using sudorimetry and heart rate variability (HRV) analysis. Method Patients were evaluated at baseline, 4, 12 and 24 weeks after vertical sleeve gastrectomy or Roux-en-Y gastric bypass. All subjects were assessed using SudoscanTM to measure electrochemical skin conductance (ESC) of hands and feet, time and frequency domain analysis of HRV, Neurologic Impairment Scores of lower legs (NIS-LL), quantitative sensory tests (QST) and sural nerve conduction studies. Results Seventy subjects completed up to 24-weeks of follow-up (24 non-T2DM, 29 pre-DM and 17 T2DM). ESC of feet improved significantly towards normal in T2DM subjects (Baseline = 56.71±3.98 vs 12-weeks = 62.69±3.71 vs 24-weeks = 70.13±2.88, p<0.005). HRV improved significantly in T2DM subjects (Baseline sdNN (sample difference of the beat to beat (NN) variability) = 32.53±4.28 vs 12-weeks = 44.94±4.18 vs 24-weeks = 49.71±5.19, p<0,001 and baseline rmsSD (root mean square of the difference of successive R-R intervals) = 23.88±4.67 vs 12-weeks = 38.06±5.39 vs 24-weeks = 43.0±6.25, p<0.0005). Basal heart rate (HR) improved significantly in all groups, as did weight, body mass index (BMI), percent body fat, waist circumference and high-density lipoprotein (HDL). Glycated hemoglobin (HbA1C), insulin and HOMA2-IR (homeostatic model assessment) levels improved significantly in pre-DM and T2DM subjects. On multiple linear regression analysis, feet ESC improvement was independently associated with A1C, insulin and HOMA2-IR levels at baseline, and improvement in A1C at 24 weeks, after adjusting for age, gender and ethnicity. Sudomotor function improvement was not associated with baseline weight, BMI, % body fat or lipid levels. Improvement in basal HR was also independently associated with A1C, insulin and HOMA2-IR levels at

  4. Removal of humic acid by a new type of electrical hollow-fiber microfiltration (E-HFMF)

    NASA Astrophysics Data System (ADS)

    Shang, Ran; Deng, Hui-ping; Hu, Jing-yi

    2010-11-01

    Low pressure membrane filtration, such as microfiltration, was widely used in the field of drinking water purification in the past few decades. Traditional microfiltration membranes are not efficient enough in the removal of natural organic matters (NOM) from raw water. Moreover, they tend to be fouled by the NOM and the filtration age of the membranes is thus shrinked. To tackle these problems, a new type of electrical hollow-fiber microfiltration module (E-HFMF) was designed. In the E-HFMF module, the hollow-fiber microfiltration membranes were placed into the radialized electrical field which functioned from the centre to the exterior of the cylindrical cavity. The main goal of the present study was to evaluate the efficiency of E-HFMF to remove the humic acid (HA, one of the main components of NOM). According to the parallel tests compared with the traditional microfiltration, the removal rate of humic acid was raised to 70%˜85% in terms of UV-254 and to 60%˜75% in terms of DOC when filtrating with the E-HFMF, while the removal rates of humic acid were 10%˜20% and 1%˜10% respectively when filtrating with the traditional microfiltration. The negative charged humic acid moved to the anode because of the electrophoresis, so few humic acid could be able to permeate through the membrane. The electrophoresis mobility of the humic acid permeating through the traditional microfiltration decreased by 19%, while the same index from the E-HFMF decreased by 75%. This indicated that the electrophoresis played a significant role on removing the humic acid. According to the gel permeate chromatograph analysis, humic acid aggregated in an electric field and thus forms loose and permeable cake layer on the membrane surface, which also relieved membrane fouling. Meanwhile, the negative charged humic acid migrating to the anode at the center minimized the deposition onto the membrane surface, and eliminated the membrane fouling as a result. During the E-HFMF filtration, the

  5. Fiber optic sensors

    NASA Technical Reports Server (NTRS)

    Hesse, J.; Sohler, W.

    1984-01-01

    A survey of the developments in the field of fiber optics sensor technology is presented along with a discussion of the advantages of optical measuring instruments as compared with electronic sensors. The two primary types of fiber optics sensors, specifically those with multiwave fibers and those with monowave fibers, are described. Examples of each major sensor type are presented and discussed. Multiwave detectors include external and internal fiber optics sensors. Among the monowave detectors are Mach-Zender interferometers, Michelson interferometers, Sagnac interferometers (optical gyroscopes), waveguide resonators, and polarimeter sensors. Integrated optical sensors and their application in spectroscopy are briefly discussed.

  6. Genetics of Nonsyndromic Congenital Hearing Loss.

    PubMed

    Egilmez, Oguz Kadir; Kalcioglu, M Tayyar

    2016-01-01

    Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). To date, 125 deafness loci have been reported in the literature: 58 DFNA loci, 63 DFNB loci, and 4 X-linked loci. Mutations in genes that control the adhesion of hair cells, intracellular transport, neurotransmitter release, ionic hemeostasis, and cytoskeleton of hair cells can lead to malfunctions of the cochlea and inner ear. In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear. PMID:26989561

  7. Effects of muscle fiber type on glycolytic potential and meat quality traits in different Tibetan pig muscles and their association with glycolysis-related gene expression.

    PubMed

    Shen, L Y; Luo, J; Lei, H G; Jiang, Y Z; Bai, L; Li, M Z; Tang, G Q; Li, X W; Zhang, S H; Zhu, L

    2015-11-13

    The myosin heavy chain (MyHC) composition, glycolytic potential, mitochondrial content, and gene expression related to energy metabolism were analyzed in eight muscles from Tibetan pigs, to study how meat quality develops in different muscle tissues. The muscles were classified into three clusters, based on MyHC composition: masseter, trapezius, and latissimus dorsi as 'slow-oxidative-type'; psoas major and semimembranosus as 'intermediate-type'; and longissimus dorsi, obliquus externus abdominis, and semitendinosus as 'fast-glycolytic-type'. The 'slow-oxidative-type' muscles had the highest MyHC I and MyHC IIA content (P < 0.01); 'intermediate-type' muscles, the highest MyHC IIx content (P < 0.01); and 'fast-glycolytic-type' muscles, the highest MyHC IIb content (P < 0.01). The pH values measured in 'slow-oxidative-type' muscles were higher than those in the other clusters were; however, the color of 'fast-glycolytic-type' muscles was palest (P < 0.01). Mitochondrial content increased in the order: fast-glycolytic-type < intermediate-type < slow-oxidative-type. In the 'slow-oxidative-type' muscles, the expression levels of genes related to ATP synthesis were higher, but were lower for those related to glycogen synthesis and glycolysis. Mitochondrial content was significantly positively correlated with MyHC I content, but negatively correlated with MyHC IIb content. MyHC I and mitochondrial content were both negatively correlated with glycolytic potential. Overall, muscles used frequently in exercise had a higher proportion of type I fibers. 'Slow-oxidative-type' muscles, rich in type I fibers with higher mitochondrial and lower glycogen and glucose contents, had a higher ATP synthesis efficiency and lower glycolytic capacity, which contributed to their superior meat quality.

  8. Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.

    PubMed

    Kugler, W; Pekrun, A; Laspe, P; Erdlenbruch, B; Lakomek, M

    2001-04-01

    Hereditary methemoglobinemia due to reduced nicotin amide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5r) deficiency is classified into an erythrocyte type (I) and a generalized type (II). We investigated the b5r gene of three unrelated patients with types I and II and found four novel mutations. The patient with type I was homozygous for a c.535 G-->A exchange in exon 6 (A179T). The patients with type II were found to be homozygous for a c.757 G-->A transition in exon 9 (V253M) and compound heterozygous for two mutations, respectively. One allele presented a c.379 A-->G transition (M127V). The second allele carried a sequence difference at the invariant 3' splice-acceptor dinucleotide of intron 4 (IVS4-2A-->G) resulting in skipping of exon 5. To characterize a possible effect of this mutation on RNA metabolism, poly(A)(+) RNA was analyzed by RT-PCR and sequencing. The results show that RNA is made from the allele harboring the 3'-splice site mutation. Furthermore, western blot analysis revealed a complete absence of immunologically detectable b5r in skin fibroblasts of this patient. The compound heterozygosity for the splice site and the missense mutations apparently caused hereditary methemoglobinemia type II in this patient. Hum Mutat 17:348, 2001. PMID:11295830

  9. Update on congenital glaucoma

    PubMed Central

    Mandal, Anil K; Chakrabarti, Debasis

    2011-01-01

    Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy–trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must. PMID:21150027

  10. Congenital idiopathic clubfoot deformities.

    PubMed

    Kyzer, S P; Stark, S L

    1995-03-01

    Clubfoot is a birth defect that is marked primarily by a deformed talus (ie, ankle) and calcaneous (ie, heel) that give the foot a characteristic "club-like" appearance. In congenital idiopathic clubfoot (ie, talipes equinovarus), the infant's foot points downward (ie, equinus) and turns inward (ie, varus), while the forefoot curls toward the heel (ie, adduction). This congenital disorder has an incidence of 1 in 400 live births, with boys affected twice as often as girls. Unilateral clubfoot is somewhat more common than bilateral clubfoot and may occur as an isolated defect or in association with other disorders (eg, chromosomal aberrations, cerebral palsy, spina bifida, arthrogryposis). Infantile clubfoot deformity is painless and is correctable with early diagnosis and prompt treatment. PMID:7778903

  11. Congenital hemifacial hyperplasia.

    PubMed

    Deshingkar, S A; Barpande, S R; Bhavthankar, J D

    2011-07-01

    Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge. PMID:22090778

  12. Congenital lipodystrophies and dyslipidemias.

    PubMed

    Prieur, Xavier; Le May, Cedric; Magré, Jocelyne; Cariou, Bertrand

    2014-09-01

    Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials.

  13. Congenital hemifacial hyperplasia

    PubMed Central

    Deshingkar, S. A.; Barpande, S. R.; Bhavthankar, J. D.

    2011-01-01

    Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge. PMID:22090778

  14. Congenital brachymetatarsia: three cases.

    PubMed

    Ferrández, L; Yubero, J; Usabiaga, J; Ramos, L

    1993-01-01

    We report on three cases with congenital brachymetatarsia, one with bilateral affectation, together with the results of a lengthening of the short metatarsal bones by progressive axial distraction using an external minifixator. The method proved to be easy to implement, permitting immediate functionality of the ankle and early load bearing. The immediate results (cosmetic) and later findings (functional) were excellent in all three cases. PMID:8314189

  15. Relationship between TBX20 gene polymorphism and congenital heart disease.

    PubMed

    Yang, X F; Zhang, Y F; Zhao, C F; Liu, M M; Si, J P; Fang, Y F; Xing, W W; Wang, F L

    2016-01-01

    Congenital heart disease in children is a type of birth defect. Previous studies have suggested that the transcription factor, TBX20, is involved in the occurrence and development of congenital heart disease in children; however, the specific regulatory mechanisms are yet to be evaluated. Hence, this study aimed to evaluate the relationship between the TBX20 polymorphism and the occurrence and development of congenital heart disease. The TBX20 gene sequence was obtained from the NCBI database and the polymorphic locus candidate was predicted. Thereafter, the specific gene primers were designed for the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) of DNA extracted from the blood of 80 patients with congenital heart disease and 80 controls. The results of the PCR were subjected to correlation analysis to identify the differences between the amplicons and to determine the relationship between the TBX20 gene polymorphism and congenital heart disease. One of the single nucleotide polymorphic locus was found to be rs3999950: c.774T>C (Ala265Ala). The TC genotype frequency in the patients was higher than that in the controls, similar to that for the C locus. The odds ratio of the TC genotypes was above 1, indicating that the presence of the TC genotype increases the incidence of congenital heart diseases. Thus, rs3999950 may be associated with congenital heart disease, and TBX20 may predispose children to the defect. PMID:27323105

  16. Congenital Cataract Screening

    PubMed Central

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  17. Congenital Cataract Screening

    PubMed Central

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  18. Congenital Cataract Screening.

    PubMed

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  19. Nonketotic hyperosmolar syndrome as an acute complication of type 1 diabetes onset in a 20-month-old boy with congenital central nervous system defect.

    PubMed

    Chumiecki, Miron; Minkina-Pedras, Mariola; Chobot, Agata; Jarosz-Chobot, Przemysława

    2012-01-01

    Hyperglycemic hyperosmolar syndrome (HHS) is one of the most severe acute complications of type 2 diabetes, but may also be developed in type 1 diabetes. Similar to ketoacidosis,HHS still remains one of the major causes of morbidity and mortality in patients with diabetes,despite a significant progress in understanding its pathogenesis and greater consensus on HHS diagnosis and treatment. It is mainly observed in elderly patients with type 2 diabetes. However,it may also occur in children,especially in infants and those with concomitant central nervous system (CNS) defects or suffering from severe infections associated with dehydration. The authors report a case of HHS in a 20-month-old child with central nervous system abnormality. Symptoms observed in our patient are characteristic for HHS. It must be emphasized that HHS may accompany diabetes onset also in children.

  20. Effect of antioxidants on push-out bond strength of hydrogen peroxide treated glass fiber posts bonded with two types of resin cement

    PubMed Central

    Khoroushi, Maryam; Mazaheri, Hamid; Tarighi, Pardis; Samimi, Pouran

    2014-01-01

    Objectives Hydrogen peroxide (H2O2) surface treatment of fiber posts has been reported to increase bond strength of fiber posts to resin cements. However, residual oxygen radicals might jeopardize the bonding procedure. This study examined the effect of three antioxidant agents on the bond strength of fiber posts to conventional and self-adhesive resin cements. Materials and Methods Post spaces were prepared in forty human maxillary second premolars. Posts were divided into five groups of 8 each: G1 (control), no pre-treatment; G2, 10% H2O2 pre-treatment; G3, G4 and G5. After H2O2 application, Hesperidin (HES), Sodium Ascorbate (SA) or Rosmarinic acid (RA) was applied on each group respectively. In each group four posts were cemented with Duo-Link conventional resin cement and the others with self-adhesive BisCem cement. Push-out test was performed and data were analyzed using 2-way ANOVA and tukey's post-hoc test (α = 0.05). Results There was a statistically significant interaction between the cement type and post surface treatment on push-out bond strength of fiber posts (p < 0.001, F = 16). Also it was shown that different posts' surface treatments significantly affect the push-out bond strength of fiber posts (p = 0.001). H2O2 treated posts (G2) and control posts (G1) cemented with Duo-link showed the highest (15.96 ± 5.07MPa) and lowest bond strengths (6.79 ± 3.94) respectively. Conclusions It was concluded that H2O2 surface treatment might enhance the bond strength of fiber posts cemented with conventional resin cements. The effect of antioxidants as post's surface treatment agents depends on the characteristics of resin cements used for bonding procedure. PMID:25383350

  1. Congenital Dislocation of the Hip

    PubMed Central

    Premi, J. M.

    1976-01-01

    The implications of a diagnosis of congenital dislocation of the hip and the importance of the role of the family physician in early detection and treatment are identified. A review of the salient clinical features of congenital dislocation of the hip is undertaken. The results of a survey carried out in the author's practice on an unusual incidence of congenital dislocated hip are reviewed. PMID:21308053

  2. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy.

  3. Flaxseed dietary fibers lower cholesterol and increase fecal fat excretion, but magnitude of effect depend on food type

    PubMed Central

    2012-01-01

    Background Dietary fibers have been proposed to play a role in cardiovascular risk as well as body weight management. Flaxseeds are a good source of dietary fibers, and a large proportion of these are water-soluble viscous fibers. Method Here, we examine the effect of flaxseed dietary fibers in different food matrices on blood lipids and fecal excretion of fat and energy in a double-blind randomized crossover study with 17 subjects. Three different 7-d diets were tested: a low-fiber control diet (Control), a diet with flaxseed fiber drink (3/day) (Flax drink), and a diet with flaxseed fiber bread (3/day) (Flax bread). Total fat and energy excretion was measured in feces, blood samples were collected before and after each period, and appetite sensation registered 3 times daily before main meals. Results Compared to control, Flax drink lowered fasting total-cholesterol and LDL-cholesterol by 12 and 15%, respectively, (p < 0.01), whereas Flax bread only produced a reduction of 7 and 9%, respectively (p < 0.05). Fecal fat and energy excretion increased by 50 and 23% with Flax drink consumption compared to control (p < 0.05), but only fecal fat excretion was increased with Flax bread compared to control (p < 0.05). Conclusion Both Flax drink and Flax bread resulted in decreased plasma total and LDL-cholesterol and increased fat excretion, but the food matrix and/or processing may be of importance. Viscous flaxseed dietary fibers may be a useful tool for lowering blood cholesterol and potentially play a role in energy balance. Trial Registration ClinicalTrials.gov: NCT00953004 PMID:22305169

  4. Patterns of Hydrocephalus Caused by Congenital Toxoplasma gondii Infection Associate With Parasite Genetics.

    PubMed

    Hutson, Samuel L; Wheeler, Kelsey M; McLone, David; Frim, David; Penn, Richard; Swisher, Charles N; Heydemann, Peter T; Boyer, Kenneth M; Noble, A Gwendolyn; Rabiah, Peter; Withers, Shawn; Montoya, Jose G; Wroblewski, Kristen; Karrison, Theodore; Grigg, Michael E; McLeod, Rima

    2015-12-15

    Four anatomical patterns of hydrocephalus secondary to congenital Toxoplasma gondii infection were identified and characterized for infants enrolled in the National Collaborative Chicago-based Congenital Toxoplasmosis Study. Analysis of parasite serotype revealed that different anatomical patterns associate with Type-II vs Not-Exclusively Type-II strains (NE-II) (P = .035).

  5. Micropenis and congenital adrenal hypoplasia.

    PubMed

    Bourgeois, M J; Jones, B; Waagner, D C; Dunn, D

    1989-01-01

    Micropenis is often an early sign of congenital hypopituitarism. It has also been associated with congenital adrenal hypoplasia in infants with anencephaly and pituitary agenesis. This report is on two infants with micropenis and congenital adrenal hypoplasia. One presented with a similar clinical course and postmortem findings to previously reported cases of adrenal hypoplasia and pituitary agenesis. The other patient represents the first reported case of an infant with micropenis and congenital adrenal hypoplasia in the absence of pituitary agenesis. The histologic patterns of adrenal hypoplasia, as well as the etiologic and clinical implications of its association with micropenis, are discussed.

  6. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... Home Health Conditions congenital hepatic fibrosis congenital hepatic fibrosis Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital hepatic fibrosis is a disease of the liver that is ...

  7. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... Registry: Leber congenital amaurosis 9 National Eye Institute: Gene Therapy for Leber Congenital Amaurosis These resources from MedlinePlus ... Additional NIH Resources (1 link) National Eye Institute: Gene Therapy for Leber Congenital Amaurosis Educational Resources (3 links) ...

  8. A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.

    PubMed

    Ding, Xuchen; Zhou, Nan; Lin, Hui; Chen, Jianjun; Zhao, Chunyuan; Zhou, Guangkai; Hejtmancik, J Fielding; Qi, Yanhua

    2014-01-01

    Congenital cataracts are one of the leading causes of visual impairment and blindness in children, and genetic factors play an important role in their development. This study aimed to identify the genetic defects associated with autosomal dominant congenital progressive punctate cataracts in a Chinese family and to explore the potential pathogenesis. Detailed family history and clinical data were recorded, and all the family members' blood samples were collected for DNA extraction. Linkage analysis was performed by microsatellite markers that are associated with punctate cataracts, and logarithm (base 10) of odds (LOD) scores were calculated using the LINKAGE program. Positive two-point LOD scores were obtained at markers D12S1622 (Zmax = 2.71 at θ = 0.0), D12S1724 (Zmax = 2.71 at θ = 0.0), and D12S90 (Zmax = 2.71 at θ = 0.0), which flank the major intrinsic protein of lens fiber (MIP) gene on chromosomal region 12q13. Direct sequencing of the encoding region of the MIP gene revealed a novel mutation (G>D) in exon 4 at nucleotide 644, which caused a substitution of glycine to aspartic acid at codon 215 (p.G215D) for the MIP protein. The mutation cosegregated with all patients with congenital progressive punctate cataracts, but it was absent in the healthy members. Bioinformatics analysis predicted that the mutation affects the function of the MIP protein. The wild type (WT) and G215D mutant of MIP were transfected with green fluorescent protein (GFP) into Hela cells separately, and it was found that the G215D mutant was aberrantly located in the cytoplasm instead of in the plasma membrane. In summary, our study presented genetic and functional evidence linking the new MIP mutation of G215D to autosomal dominant congenital cataracts, which adds to the list of MIP mutations linked to congenital progressive punctate cataracts.

  9. Effects of type and particle size of dietary fiber on growth performance and digestive traits of broilers from 1 to 21 days of age.

    PubMed

    Jiménez-Moreno, E; González-Alvarado, J M; González-Sánchez, D; Lázaro, R; Mateos, G G

    2010-10-01

    A trial was conducted to study the effects of type and particle size of dietary fiber on growth performance and digestive traits of broilers from 1 to 21 d of age. There was a negative control diet with 1.54% crude fiber, a positive control diet that included 3% cellulose (CEL), and 4 additional diets arranged factorially that included 3% oat hulls (OH) or sugar beet pulp (SBP) ground through a 0.5- or a 2.0-mm screen. For the entire experimental period, fiber inclusion improved BW gain (P≤0.01) and feed conversion ratio (P≤0.001), but particle size of the fiber source did not affect performance. The relative weight of the gizzard was higher (P≤0.001) with OH and SBP than with CEL or the control diet. Also, gizzard weight decreased (P≤0.001) with a reduction in particle size of the fiber source. Fiber inclusion increased HCl concentration and reduced gizzard pH (P≤0.01), and the effects were more noticeable with OH and SBP than with CEL. Fiber inclusion increased total tract apparent retention of nitrogen (P≤0.001) and soluble ash (P≤0.001) as well as the AMEn of the diet (P≤0.001). All of these effects were in general more pronounced with OH than with CEL, with SBP being intermediate. A reduction in particle size of the OH and SBP improved total tract apparent retention of DM (P≤0.001), nitrogen (P≤0.05), and soluble ash (P≤0.01) as well as the AMEn of the diet (P≤0.05). It is concluded that additional OH and SBP improves gizzard weight and growth performance in young chicks fed low-fiber diets and that the effects are more pronounced with OH than with CEL. Particle size of OH and SBP does not affect broiler performance, but coarse grinding increases gizzard development and reduces nutrient digestibility in young birds.

  10. Colchicine myopathy: a vacuolar myopathy with selective type I muscle fiber involvement. An immunohistochemical and electron microscopic study of two cases.

    PubMed

    Fernandez, C; Figarella-Branger, D; Alla, P; Harlé, J-R; Pellissier, J-F

    2002-02-01

    Colchicine, a microtubule polymerization inhibitor, can very occasionally induce myopathy. We report two cases of colchicine myopathy. Both patients presented with myalgia and proximal muscle weakness. The first patient, an 80-year-old woman, had chronic renal failure related to renal amyloidosis. She had been treated by colchicine for 4 months. The second, a 75-year-old man with normal renal function, suffering from gout, was treated by colchicine for 3 weeks. Muscle biopsies displayed the same alterations, but the degree of severity was different. Conventional histology revealed vacuolar changes characterized by acid phosphatase-positive vacuoles and myofibrillar disarray foci. The lesions were selective for type I fibers. Ultrastructural study demonstrated autophagic vacuoles. Most of the vacuoles expressed dystrophin but not merosin. Several fibers reacted with anti-MHC class I antibody and granular deposits of membrane attack complex were observed on the surface of numerous myofibers. Anti-alphaB-crystallin antibody strongly reacted with vacuolar content. Physiopathologically, microtubules are primordial for vesicle movements and colchicine induces autophagic vacuole accumulation by preventing their fusion with lysosomes. The selective type I involvement is probably due to the higher tubulin amount in type I fibers. AlphaB-crystallin overexpression is related to its microtubule protection properties. Moreover, we suggest that vacuoles randomly floating in sarcoplasm might occasionally meet the plasma membrane and open in the extracellular space, leading to complement activation. Accurate diagnosis of colchicine myopathy is relevant because the treatment is based on colchicine interruption.

  11. Reduced Appendicular Lean Body Mass, Muscle Strength, and Size of Type II Muscle Fibers in Patients with Spondyloarthritis versus Healthy Controls: A Cross-Sectional Study

    PubMed Central

    2016-01-01

    Introduction. The purpose of this study was to investigate body composition, muscle function, and muscle morphology in patients with spondyloarthritis (SpA). Methods. Ten male SpA patients (mean ± SD age 39 ± 4.1 years) were compared with ten healthy controls matched for sex, age, body mass index, and self-reported level of physical exercise. Body composition was measured by dual energy X-ray absorptiometry. Musculus quadriceps femoris (QF) strength was assessed by maximal isometric contractions prior to test of muscular endurance. Magnetic resonance imaging of QF was used to measure muscle size and calculate specific muscle strength. Percutaneous needle biopsy samples were taken from m. vastus lateralis. Results. SpA patients presented with significantly lower appendicular lean body mass (LBM) (p = 0.02), but there was no difference in bone mineral density, fat mass, or total LBM. Absolute QF strength was significantly lower in SpA patients (p = 0.03) with a parallel trend for specific strength (p = 0.08). Biopsy samples from the SpA patients revealed significantly smaller cross-sectional area (CSA) of type II muscle fibers (p = 0.04), but no difference in CSA type I fibers. Conclusions. Results indicate that the presence of SpA disease is associated with reduced appendicular LBM, muscle strength, and type II fiber CSA.

  12. Reduced Appendicular Lean Body Mass, Muscle Strength, and Size of Type II Muscle Fibers in Patients with Spondyloarthritis versus Healthy Controls: A Cross-Sectional Study

    PubMed Central

    2016-01-01

    Introduction. The purpose of this study was to investigate body composition, muscle function, and muscle morphology in patients with spondyloarthritis (SpA). Methods. Ten male SpA patients (mean ± SD age 39 ± 4.1 years) were compared with ten healthy controls matched for sex, age, body mass index, and self-reported level of physical exercise. Body composition was measured by dual energy X-ray absorptiometry. Musculus quadriceps femoris (QF) strength was assessed by maximal isometric contractions prior to test of muscular endurance. Magnetic resonance imaging of QF was used to measure muscle size and calculate specific muscle strength. Percutaneous needle biopsy samples were taken from m. vastus lateralis. Results. SpA patients presented with significantly lower appendicular lean body mass (LBM) (p = 0.02), but there was no difference in bone mineral density, fat mass, or total LBM. Absolute QF strength was significantly lower in SpA patients (p = 0.03) with a parallel trend for specific strength (p = 0.08). Biopsy samples from the SpA patients revealed significantly smaller cross-sectional area (CSA) of type II muscle fibers (p = 0.04), but no difference in CSA type I fibers. Conclusions. Results indicate that the presence of SpA disease is associated with reduced appendicular LBM, muscle strength, and type II fiber CSA. PMID:27672678

  13. Differential effects of mild therapeutic exercise during a period of inactivity on power generation in soleus type I single fibers with age.

    PubMed

    Kim, Jong-Hee; Thompson, LaDora V

    2012-05-01

    The purpose of this study was to investigate the effects of mild therapeutic exercise (treadmill) in preventing the inactivity-induced alterations in contractile properties (e.g., power, force, and velocity) of type I soleus single fibers in three different age groups. Young adult (5- to 12-mo-old), middle-aged (24- to 31-mo-old), and old (32- to 40-mo-old) F344BNF1 rats were randomly assigned to three experimental groups: weight-bearing control (CON), non-weight bearing (NWB), and NWB with exercise (NWBX). NWB rats were hindlimb suspended for 2 wk, representing inactivity. The NWBX rats were hindlimb suspended for 2 wk and received therapeutic exercise on a treadmill four times a day for 15 min each. Peak power and isometric maximal force were reduced following hindlimb suspension (HS) in all three age groups. HS decreased fiber diameter in young adult and old rats (-21 and -12%, respectively). Specific tension (isometric maximal force/cross-sectional area) was significantly reduced in both the middle-aged (-36%) and old (-23%) rats. The effects of the mild therapeutic exercise program on fiber diameter and contractile properties were age specific. Mild treadmill therapeutic exercise attenuated the HS-induced reduction in fiber diameter (+17%, 93% level of CON group) and peak power (μN·fiber length·s(-1)) (+46%, 63% level of CON group) in young adult rats. In the middle-aged animals, this exercise protocol improved peak power (+60%, 100% level of CON group) and normalized power (kN·m(-2)·fiber length·s(-1)) (+45%, 108% level of CON group). Interestingly, treadmill exercise resulted in a further reduction in shortening velocity (-42%, 67% level of CON group) and specific tension (-29%, 55% level of CON group) in the old animals. These results suggest that mild treadmill exercise is beneficial in attenuating and preventing inactivity-induced decline in peak power of type I soleus single fibers in young adult and middle-aged animals, respectively. However, this

  14. Experiment K-6-21. Effect of microgravity on 1) metabolic enzymes of type 1 and type 2 muscle fibers and on 2) metabolic enzymes, neutransmitter amino acids, and neurotransmitter associated enzymes in motor and somatosensory cerebral cortex. Part 1: Metabolic enzymes of individual muscle fibers; part 2: metabolic enzymes of hippocampus and spinal cord

    NASA Technical Reports Server (NTRS)

    Lowry, O.; Mcdougal, D., Jr.; Nemeth, Patti M.; Maggie, M.-Y. Chi; Pusateri, M.; Carter, J.; Manchester, J.; Norris, Beverly; Krasnov, I.

    1990-01-01

    The individual fibers of any individual muscle vary greatly in enzyme composition, a fact which is obscured when enzyme levels of a whole muscle are measured. The purpose of this study was therefore to assess the changes due to weightless on the enzyme patterns composed by the individual fibers within the flight muscles. In spite of the limitation in numbers of muscles examined, it is apparent that: (1) that the size of individual fibers (i.e., their dry weight) was reduced about a third, (2) that this loss in dry mass was accompanied by changes in the eight enzymes studied, and (3) that these changes were different for the two muscles, and different for the two enzyme groups. In the soleus muscle the absolute amounts of the three enzymes of oxidative metabolism decreased about in proportion to the dry weight loss, so that their concentration in the atrophic fibers was almost unchanged. In contrast, there was little loss among the four enzymes of glycogenolysis - glycolysis so that their concentrations were substantially increased in the atrophic fibers. In the TA muscle, these seven enzymes were affected in just the opposite direction. There appeared to be no absolute loss among the oxidative enzymes, whereas the glycogenolytic enzymes were reduced by nearly half, so that the concentrations of the first metabolic group were increased within the atrophic fibers and the concentrations of the second group were only marginally decreased. The behavior of hexokinase was exceptional in that it did not decrease in absolute terms in either type of muscle and probably increased as much as 50 percent in soleus. Thus, their was a large increase in concentration of this enzyme in the atrophied fibers of both muscles. Another clear-cut finding was the large increase in the range of activities of the glycolytic enzymes among individual fibers of TA muscles. This was due to the emergence of TA fibers with activities for enzymes of this group extending down to levels as low as

  15. Congenital granular cell epulis.

    PubMed

    Conrad, Rachel; Perez, Mia C N

    2014-01-01

    Congenital granular cell epulis is a rarely reported lesion of unknown histogenesis with a strong predilection for the maxillary alveolar ridge of newborn girls. Microscopically, it demonstrates nests of polygonal cells with granular cytoplasm, a prominent capillary network, and attenuated overlying squamous epithelium. The lesion lacks immunoreactivity for S-100, laminin, chromogranin, and most other markers except neuron-specific enolase and vimentin. Through careful observation of its unique clinical, histopathologic, and immunohistochemical features, this lesion can be distinguished from the more common adult granular cell tumor as well as other differential diagnoses.

  16. Neonatal congenital microvillus atrophy

    PubMed Central

    Pecache, N; Patole, S; Hagan, R; Hill, D; Charles, A; Papadimitriou, J

    2004-01-01

    Congenital microvillous atrophy (CMVA) is the leading cause of neonatal secretory diarrhoea with onset either in the first 72 hours of life (early onset) or at 6–8 weeks after birth (late onset). To date over 30 cases have been reported worldwide. The prognosis for this life threatening condition continues to be poor. Therapeutic agents like somatostatin and epidermal growth factor are either ineffective or of marginal benefit. Overall five year survival after small bowel transplantation is currently ∼50%. The following brief review is aimed towards helping neonatologists/perinatologists in the early diagnosis, and management of CMVA and in counselling the parents appropriately. PMID:14970294

  17. [Congenital linear nevus sebaceus].

    PubMed

    Linnemann, Anders; Bygum, Anette; Fenger-Grøn, Jesper

    2011-09-01

    An unusual case of nevus sebaceous is described. Nevus sebaceous is a congenital epidermal hamartoma of the skin and the predilection site is the head or neck. In this case the nevus followed the lines of Blaschko along the back of the left lower extremity. The linear lesion seemed papulovesicular which caused suspicion of incontinentia pigmenti or infection, and the boy received antimicrobial treatment until a biopsy revealed the correct diagnosis. We wish to emphasize this clinical picture to spare the patient and relatives from unnecessary tests, treatment and concern. PMID:21893006

  18. Congenital anterior urethral diverticulum.

    PubMed

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

    Congenital anterior urethral diverticulum (CAUD) may be found all along the anterior urethra and may present itself at any age, from infant to adult. Most children with this condition present with difficulty in initiating micturition, dribbling of urine, poor urinary stream, or urinary tract infection. A careful history will reveal that these children never had a good urinary stream since birth, and the telltale sign is a cystic swelling of the penile urethra. In this paper, we present two cases of CAUD that were managed by excision of the diverticulum with primary repair. PMID:26328174

  19. Method Of Bonding A Metal Connection To An Electrode Including A Core Having A Fiber Or Foam Type Structure For An Electrochemical Cell, An

    DOEpatents

    Loustau, Marie-Therese; Verhoog, Roelof; Precigout, Claude

    1996-09-24

    A method of bonding a metal connection to an electrode including a core having a fiber or foam-type structure for an electrochemical cell, in which method at least one metal strip is pressed against one edge of the core and is welded thereto under compression, wherein, at least in line with the region in which said strip is welded to the core, which is referred to as the "main core", a retaining core of a type analogous to that of the main core is disposed prior to the welding.

  20. Development of internal components for M38999 type connectors, for use in advanced photonic applications and with specialty optical fibers

    NASA Astrophysics Data System (ADS)

    Whitebook, Alan; Caloz, Francois

    2014-09-01

    This presentation outlines development work performed to produce internal components (connector insert assemblies & optical terminus assemblies) to be fit into MIL-DTL-38999, or commercial off the shelf (COTS) equivalent, connector housings. Connectors modified with these internal components are then suitable for optical termination and transmission through specialty fibers such as polarization maintaining, small core single-mode, and others, with the ability to achieve high levels of performance in the areas of insertion loss, return loss, polarization extinction ratio (as applicable) and power handling capability (as applicable.) Technical details are presented to illustrate features within the optical terminus, and its insert cavity, which serves to allow for fiber/ferrule polar orientation, concentricity of mated termini ferrules and fibers terminated within, and other attributes designed to support optical performance goals. Finally, optical performance data is given and discussed to illustrate results achieved by production of evaluation cable assemblies. emblies.

  1. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

    PubMed Central

    Engel, Andrew G.; Shen, Xin-Ming; Selcen, Duygu; Sine, Steven M.

    2015-01-01

    The congenital myasthenic syndromes are diverse disorders linked by abnormal signal transmission at the motor endplate that stem from defects in single or multiple proteins. Multiple endplate proteins are affected by mutations of single enzymes required for protein glycosylation, and deletion of PREPL exerts its effect by activating adaptor protein 1. Finally, neuromuscular transmission is also impaired in some congenital myopathies. The specific diagnosis of some syndromes is facilitated by clinical clues pointing to a disease gene. In absence of such clues, exome sequencing is a useful tool for finding the disease gene. Deeper understanding of disease mechanisms come from structural and in vitro electrophysiologic studies of the patient endplate, and from engineering the mutant and wild-type gene into a suitable expression system that can be interrogated by appropriate electrophysiologic and biochemical studies. Most CMS are treatable. Importantly, however, some medication beneficial in one syndrome can be detrimental in another. PMID:25792100

  2. Dietary fiber, magnesium, and glycemic load alter risk of type 2 diabetes in a multiethnic cohort in Hawaii.

    PubMed

    Hopping, Beth N; Erber, Eva; Grandinetti, Andrew; Verheus, Martijn; Kolonel, Laurence N; Maskarinec, Gertraud

    2010-01-01

    The influence of dietary fiber, magnesium (Mg), and glycemic load (GL) on diabetes was examined in the Hawaii component of the Multiethnic Cohort. The 75,512 Caucasian, Japanese American, and Native Hawaiian participants aged 45-75 y at baseline completed a FFQ. After 14 y of follow-up, 8587 incident diabetes cases were identified through self-reports and health plans. We applied Cox regression stratified for age at cohort entry and adjusted for ethnicity, BMI, physical activity, education, and total energy with further stratifications by sex and ethnicity. When comparing extreme quintiles, total fiber intake was associated with reduced diabetes risk among all men [hazard ratio (HR): 0.75; 95% CI: 0.67, 0.84; P-trend < 0.001) and women (HR: 0.95; 95% CI: 0.85, 1.06; P-trend = 0.05). High intake of grain fiber reduced diabetes risk significantly by 10% in men and women. High vegetable fiber intake lowered risk by 22% in all men but not women. Mg intake reduced risk (HR = 0.77 and 0.84 for men and women, respectively) and, due to its strong correlation with fiber (r = 0.83; P < 0.001), may explain the protective effect of fiber. The top GL quintile was associated with a significantly elevated diabetes incidence in Caucasian men and in all women except Japanese Americans. Overall, several associations were more pronounced in Caucasians than in the other groups. These findings suggest that protection against diabetes can be achieved through food choices after taking into account body weight, but, due to differences in commonly consumed foods, risk estimates may differ by ethnic group. PMID:19889808

  3. Congenital Cytomegalovirus Infection.

    PubMed

    Bale, James F.; Miner, Lonnie; Petheram, Susan J.

    2002-05-01

    Intrauterine infection with cytomegalovirus (CMV), a betaherpesvirus, remains the most frequent congenital virus infection in many regions of the world. Although most CMV-infected newborns lack signs of CMV infection, approximately 10% have signs that can consist of low birth weight, jaundice, hepatosplenomegaly, skin rash, microcephaly, and chorioretinitis. Neonates with signs of CMV infection at birth have high rates of audiologic and neurodevelopmental sequelae. Although postnatal therapy with ganciclovir transiently reduces virus shedding and may lessen the audiologic consequences of CMV in some infected infants, additional strategies are needed to prevent congenital CMV disease and to improve the neurodevelopmental prognosis of infants infected with CMV in utero. Some cases of intrauterine infections can be prevented in susceptible women by avoiding contact with the urine or saliva of young children who may be shedding CMV. Vaccines against CMV remain in the experimental stages of development. Termination of pregnancy can be offered to women whose infants have evidence of intrauterine CMV infection and sonographic signs of central nervous system damage. Infants who survive symptomatic intrauterine infections have high rates of neurodevelopmental sequelae and require comprehensive evaluation and therapy through center and home-based early intervention programs. PMID:11931729

  4. [Genetics of congenital lipodystrophies].

    PubMed

    Buffet, A; Lombes, M; Caron, P

    2015-10-01

    Congenital lipodystrophies are heterogeneous genetic diseases, leading to the loss of adipose tissue. This loss of adipose tissue can be generalized or partial, thus defining different phenotypes. These lipodystrophies have a major metabolic impact, secondary to lipotoxicity. This lipotoxicity is responsible for insulin resistance, dyslipidemia and hepatic steatosis. The severity of the metabolic impact correlates with the severity of the loss of adipose tissue. Mutations in 15 predisposition genes are currently described; BSCL2 and AGPT2 genes are the major genes in the generalized forms. On the contrary, LMNA and PPARG gene mutations are recovered in partial lipodystrophies forms. These different genes encode for proteins involved in adipocyte physiology, altering adipocyte differentiation, triglycerides synthesis and lysis or playing a major role in the lipid droplet formation. Congenital lipodystrophies treatment is based on the management of metabolic comorbidities but recombinant leptin therapy appears to have promising results. These different points have been recently discussed during the 2015 Endocrine Society Congress, notably by S. O'Rahilly and are highlighted in this review.

  5. [Genetics of congenital deafness].

    PubMed

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  6. Effect of acute and chronic eccentric exercise on FOXO1 mRNA expression as fiber type transition factor in rat skeletal muscles.

    PubMed

    Azad, Milad; Khaledi, Neda; Hedayati, Mehdi

    2016-06-15

    Skeletal muscle is a highly elastic tissue which can respond to various functional demands by altering fiber-type composition. Exercise affects muscle fiber phenotype. One of the transcription factors that induce fiber-type transition is forkhead box O1 (FOXO1). Since eccentric contraction considered an essential part of exercise, so we are interested to see the effects of eccentric exercise (acute/chronic) on FOXO1 as an important factor of fiber-type transition in rat skeletal muscles. Twenty-four Sprague-Dawley rats (190-235g) were divided to 3 groups of 8 rats: 1) chronic eccentric exercise (CEE), 2) acute eccentric exercise (AEE), and 3) control (C). The exercise groups underwent downhill running protocol. CEE was running on treadmill in 3 days of week for 9 weeks, that slope and duration gradually managed from -4° to -16° and 15 to 90 min, respectively. AEE group was running with 16 m/min on -16° slope for 3 consecutive days that included 18 sets of 5 min with rest interval of 2 min in between. Soleus and super vastus lateralis (SVL) muscles mRNA were analyzed by real-time RT-PCR. SVL FOXO1 mRNA levels increased by 3.92-fold in the AEE and decreased 0.56-fold in the CEE group and were not significant in soleus muscle. In soleus muscle, myosin heavy chain (MHC) IIa, IIx, and IIb decreased in the AEE group and MHC IIa and IIx decreased in the CEE group. In SVL muscle, MHC I, IIa, and IIx increased in the AEE group and MHC IIa and IIX increased in the CEE group. In summary, both acute and chronic eccentric exercise could lead to change in FOXO1 mRNA only in fast SVL muscle of rat and so could induce fiber-type transition in both muscles regardless of changes in expression of FOXO1. So, oxidative stress can play important role in change of FOXO1.

  7. Genetics Home Reference: PMM2-congenital disorder of glycosylation

    MedlinePlus

    ... CDG (CDG-Ia) Genetic Testing Registry: Carbohydrate-deficient glycoprotein syndrome type I These resources from MedlinePlus offer ... area? Other Names for This Condition carbohydrate-deficient glycoprotein syndrome type Ia CDG Ia CDG1a CDGS1a congenital ...

  8. Small congenital nevi associated with melanoma: case reports and considerations.

    PubMed

    Betti, R; Inselvini, E; Vergani, R; Crosti, C

    2000-09-01

    Melanocytic nevi, both congenital and acquired, are considered to be precursors of melanomas. Data about the malignant potential of these nevi are conflicting, particularly with reference to the nevus of the smallest size. Patients with preexisting melanocytic nevi (both congenital and acquired) have risks of developing melanoma that differ from those of subjects without them. The purpose of this study was to verify the presence of melanoma in preexisting nevi both congenital (congenital nevus associated melanoma) (CNAM) and acquired (ANAM). In particular, we investigated melanomas associated with small congenital nevi (SCN). A cohort of 190 patients with primary melanomas was studied. Congenital nevi were called "small" (SCN) when their diameters were less than 1.5 cm. Epiluminescence microscopy (ELM) was performed to further improve the clinical diagnosis and to observe the more subtle changes in the preexisting nevi. Forty of the 190 cases of melanoma were associated with preexisting nevi; of these, 15 had congenital features with a CNAM largest diameter of 1.5 cm. These 15 cases were melanomas of the superficial type with a mean tumor thickness lower than that of ANAM (0.33 vs 1.50). There were no differences between the locations of CNAM and other melanomas. Male patients were significantly more affected. ELM microscopy permitted us to detect the early malignant changes in nevi and thus to improve our diagnosis. A high percentage of small congenital nevi were found to be associated with melanomas. They may be considered as melanomas precursors. Because of their large number and frequency, prophylactic removal of all SCN is not feasible. However, they should be removed as soon as possible when clinical or ELM changes are observed.

  9. Neurologic course of congenital disorders of glycosylation.

    PubMed

    Pearl, P L; Krasnewich, D

    2001-06-01

    Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and neuropathy. The metabolic defect is in N-linked oligosaccharide synthesis, and diagnosis is made by a serum transferrin isoelectric focusing. We reviewed the neurologic course of 10 children with congenital disorders of glycosylation (ages 13 months to 7 years). All had severe developmental delay and ataxia; none walked unassisted, and the highest level of communication was simple sign language in one patient. Five of 10 children had seizures (absence, complex partial, tonic clonic). Only one patient has had strokelike episodes, despite reports that they are common in this population. The underlying basis of these episodes has been hypothesized to be coagulopathy due to dysfunctional, incorrectly glycosylated coagulation factors. This 5-year-old patient with congenital disorders of glycosylation type Ia had two strokelike episodes, with evolving hemiparesis over 5 to 6 days' duration, followed by focal tonic-clonic seizures. Coagulation studies were normal. Electroencephalography showed transient hemispheric polymorphous delta-range slowing and suppression. Magnetic resonance imaging revealed corresponding cortical swelling. Magnetic resonance angiography was normal. Magnetic resonance spectroscopy revealed a decrease in the N-acetylaspartate peak, suggesting neuronal loss, with normal lactate peak. The neuroradiologic data do not support a thrombotic, embolic, or hemorrhagic basis for strokelike episodes in carbohydrate-deficient glycoprotein syndrome; other mechanisms must be considered.

  10. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy.

  11. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy. PMID:25037085

  12. Congenital Self-Healing Reticulohistiocytosis

    PubMed Central

    Lee, Young H.; Talekar, Mala K.; Chung, Catherine G.; Bell, Moshe D.

    2014-01-01

    Congenital self-healing reticulohistiocytosis, also known as congenital self-healing Langerhans cell histiocytosis or Hashimoto-Pritzker disease, is a Langerhans cell histiocytosis. It is characterized by skin lesions in the newborn period in an otherwise healthy infant that show a Langerhans cell infiltrate in the skin on histological analysis. These findings subsequently spontaneously involute. This report describes two newborns who presented at birth with differing presentations of congenital self-healing reticulohistiocytosis. A review of the disorder, including diagnosis and evaluation, is presented. PMID:24578781

  13. Fetal MRI as Complementary Study of Congenital Cystic Adenomatoid Malformation During Pregnancy: A Single Case Report

    PubMed Central

    Miranda-Paanakker, Alberto; Gomez-Leal, Paloma; Navarro-Sanchez, Patricia; Bueno-Crespo, Andres; Martinez-Cendan, Juan Pedro; Remezal-Solano, Manuel

    2016-01-01

    Fetal lung masses are rare findings in prenatal ultrasound scanning in general population, of which congenital cystic adenomatoid malformation is the most commonly diagnosed type. This paper reports a single case of congenital cystic adenomatoid malformation detected at our hospital and the subsequent clinical follow-up using ultrasound scanning and fetal magnetic resonance imaging. PMID:27186452

  14. Congenital sensorineural hearing loss

    SciTech Connect

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  15. Congenital erythropoietic porphyria.

    PubMed

    Fritsch, C; Lang, K; Bolsen, K; Lehmann, P; Ruzicka, T

    1998-01-01

    Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-recessive disorders of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces. Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. Splenomegaly and hemolytic anemia are typical internal symptoms. Skeletal changes such as osteolysis and calcifications are frequent. Up to date 130 cases of CEP have been published. Splenectomy and erythrocyte transfusions showed some beneficial effect. Bone marrow transplantation was performed in 3 patients and stem cell transplantation in 1. The best therapy is the avoidance of sunlight. We give a report on our latest cases of CEP. PMID:10343205

  16. Intense Raman scattering on hybrid Au/Ag nanoplatforms for the distinction of MMP-9-digested collagen type-I fiber detection.

    PubMed

    Sivashanmugan, Kundan; Liao, Jiunn-Der; Shao, Pei-Lin; Liu, Bernard Haochih; Tseng, Te-Yu; Chang, Chih-Yu

    2015-10-15

    Well-ordered Au-nanorod arrays were fabricated using the focused ion beam method (denoted as fibAu_NR). Au or Ag nanoclusters (NCs) of various sizes and dimensions were then deposited on the fibAu_NR arrays using electron beam deposition to improve the surface-enhanced Raman scattering (SERS) effect, which was verified using a low concentration of crystal violet (10(-)(5)M) as the probe molecule. An enhancement factor of 6.92 × 10(8) was obtained for NCsfibAu_NR, which is attributed to the combination of intra-NC and NR localized surface plasmon resonance. When 4-aminobenzenethiol (4-ABT)-coated Au or Ag nanoparticles (NPs) were attached to NCsfibAu_NR, the small gaps between 4-ABT-coated NPs and intra-NCs allowed detection at the single-molecule level. Hotspots formed at the interfaces of NCs/NRs and NPs/NCs at a high density, producing a strong local electromagnetic effect. Raman spectra from as-prepared type I collagen (Col-I) and Ag-NP-coated Col-I fibers on NCsfibAu_NR were compared to determine the quantity of amino acids in their triple helix structure. Various concentrations of matrix-metalloproteinase-9-digested Col-I fibers on NCsfibAu_NR were qualitatively examined at a Raman laser wavelength of 785nm to determine the changes of amino acids in the Col-I fiber structure. The results can be used to monitor the growth of healing Col-I fibers in a micro-environment. PMID:25957832

  17. FIBER LENGTH DISTRIBUTION MEASUREMENT FOR LONG GLASS AND CARBON FIBER REINFORCED INJECTION MOLDED THERMOPLASTICS

    SciTech Connect

    Kunc, Vlastimil; Frame, Barbara J; Nguyen, Ba N.; TuckerIII, Charles L.; Velez-Garcia, Gregorio

    2007-01-01

    Procedures for fiber length distribution (FLD) measurement of long fiber reinforced injection molded thermoplastics were refined for glass and carbon fibers. Techniques for sample selection, fiber separation, digitization and length measurement for both fiber types are described in detail. Quantitative FLD results are provided for glass and carbon reinforced polypropylene samples molded with a nominal original fiber length of 12.7 mm (1/2 in.) using equipment optimized for molding short fiber reinforced thermoplastics.

  18. [Congenital heart diseases in women].

    PubMed

    Putotto, Carolina; Unolt, Marta; Caiaro, Angela; Marino, Dario; Massaccesi, Valerio; Marino, Bruno; Digilio, Maria Cristina

    2013-02-01

    Are there gender differences in prevalence, surgical results and long-term survival of patients with congenital heart disease? Available literature data allow us to state what follows. At birth there is a mild but significant prevalence of congenital heart disease in females. The most severe congenital heart diseases are less frequent in girls, but when they are present in females, they are linked to a higher surgical mortality rate, due perhaps to lower weight at birth and to the prevalence of extracardiac malformations and/or of associated genetic syndromes. On the other hand, in adults, surgery for congenital heart disease is at higher risk in males, and so the long-term survival rate is higher in females. Particular psychological attitudes, a higher incidence of pulmonary hypertension, as well as specific problems linked to the reproductive function characterize congenital heart disease in adult women. The knowledge and analysis of these data are essential for a correct management of congenital heart disease in neonates, children and adults.

  19. In vivo Ca2+ buffering capacity and microvascular oxygen pressures following muscle contractions in diabetic rat skeletal muscles: fiber-type specific effects.

    PubMed

    Eshima, Hiroaki; Poole, David C; Kano, Yutaka

    2015-07-15

    In Type 1 diabetes, skeletal muscle resting intracellular Ca(2+) concentration ([Ca(2+)]i) homeostasis is impaired following muscle contractions. It is unclear to what degree this behavior is contingent upon fiber type and muscle oxygenation conditions. We tested the hypotheses that: 1) the rise in resting [Ca(2+)]i evident in diabetic rat slow-twitch (type I) muscle would be exacerbated in fast-twitch (type II) muscle following contraction; and 2) these elevated [Ca(2+)]i levels would relate to derangement of microvascular partial pressure of oxygen (PmvO2 ) rather than sarcoplasmic reticulum dysfunction per se. Adult male Wistar rats were divided randomly into diabetic (DIA: streptozotocin ip) and healthy (CONT) groups. Four weeks later extensor digitorum longus (EDL, predominately type II fibers) and soleus (SOL, predominately type I fibers) muscle contractions were elicited by continuous electrical stimulation (120 s, 100 Hz). Ca(2+) imaging was achieved using fura 2-AM in vivo (i.e., circulation intact). DIA increased fatigability in EDL (P < 0.05) but not SOL. In recovery, SOL [Ca(2+)]i either returned to its resting baseline within 150 s (CONT 1.00 ± 0.02 at 600 s) or was not elevated in recovery at all (DIA 1.03 ± 0.02 at 600 s, P > 0.05). In recovery, EDL CONT [Ca(2+)]i also decreased to values not different from baseline (1.06 ± 0.01, P > 0.05) at 600 s. In marked contrast, EDL DIA [Ca(2+)]i remained elevated for the entire recovery period (i.e., 1.23 ± 0.03 at 600 s, P < 0.05). The inability of [Ca(2+)]i to return to baseline in EDL DIA was not associated with any reduction of SR Ca(2+)-ATPase (SERCA) 1 or SERCA2 protein levels (both increased 30-40%, P < 0.05). However, Pmv(O2) recovery kinetics were markedly slowed in EDL such that mean Pmv(O2) was substantially depressed (CONT 27.9 ± 2.0 vs. DIA 18.4 ± 2.0 Torr, P < 0.05), and this behavior was associated with the elevated [Ca(2+)]i. In contrast, this was not the case for SOL (P > 0.05) in that

  20. Effect of natural fiber types and sodium silicate coated on natural fiber mat/PLA composites: Tensile properties and rate of fire propagation

    NASA Astrophysics Data System (ADS)

    Thongpin, C.; Srimuk, J.; hipkam, N.; Wachirapong, P.

    2015-07-01

    In this study, 3 types of natural fibres, i.e. jute, sisal and abaca, were plain weaved to fibre mat. Before weaving, the fibres were treated with 5% NaOH to remove hemi cellulose and lignin. The weaving was performed by hand using square wooden block fit with nails for weaving using one and two types of natural fibres as weft and warp fibre to produce natural fibre mat. The fibre mat was also impregnated in sodium silicate solution extracted from rich husk ash. The pH of the solution was adjusted to pH 7 using H2SO4 before impregnation. After predetermined time, sodium silicate was gelled and deposited on the mat. The fabric mat and sodium silicate coated mat were then impregnated with PLA solution to produce prepreg. Dried pepreg was laminated with PLA sheet using compressing moulding machine to obtain natural fibre mat/PLA composite. The composite containing abaca aligned in longitudinal direction with respect to tension force enhanced Young's modulus more than 300%. Fibre mat composites with abaca aligned in longitudinal direction also showed tensile strength enhancement nearly 400% higher than neat PLA. After coating with sodium silicate, the tensile modulus of the composites was found slightly increased. The silicate coating was disadvantage on tensile strength of the composite due to the effect of sodium hydroxide solution that was used as solvent for silicate extraction from rice husk ash. However, sodium silicate could retard rate of fire propagation about 50%compare to neat PLA and about 10% reduction compared to fibre mat composites without sodium silicate coated fibre mat.

  1. Calcium concrements in the pineal gland of the Arctic fox (Vulpes lagopus) and their relationship to pinealocytes, glial cells and type I and III collagen fibers.

    PubMed

    Bulc, M; Lewczuk, B; Prusik, M; Gugołek, A; Przybylska-Gornowicz, B

    2010-01-01

    The aim of the present study was to analyze the presence and morphology of the pineal concretions in the Arctic fox and their relationship to pinealocytes, glial cells and collagen fibers. Pineals collected from 7-8 month-old and 3-4 year-old foxes (6 in each age-group) were investigated. Sections of the glands were stained with HE, Mallory's method and alizarin red S as well as subjected to a combined procedure involving immunofluorescent staining with antibodies against antigen S, glial fibril acid protein (GFAP), type I and III collagen and histochemical staining with alizarin red S. The pineal concretions were found in 2 of 6 investigated Arctic foxes aged 3 years and they were not observed in animals aged 7-8 months. The acervuli were present in the parenchyma and the connective tissue septa. They were more numerous in the distal part than in the proximal part of the gland. The acervuli stained with alizarin red S revealed an intensive red fluorescence, what enabled the use of this compound in a combined histochemical-immunofluorescent procedure. A majority of cells in the fox pineal showed positive staining with antibodies against antigen S, a marker of pinealocytes. GFAP-positive cells were especially numerous in the proximal part of the gland. Both antigen S- and GFAP-positive cells were frequently observed close to the concrements. Collagen fibers of type I and III were found in the capsule, connective tissue septa and vessels. Immunoreactive fibers did not form any capsules or basket-like structures surrounding the concrements. PMID:20731181

  2. Kagome-type hollow-core photonic crystal fibers for beam delivery and pulse compression of high-power ultrafast lasers

    NASA Astrophysics Data System (ADS)

    Saraceno, C. J.; Emaury, F.; Diebold, A.; Schriber, C.; Debord, B.; Gérôme, F.; Südmeyer, T.; Benabid, F.; Keller, U.

    2015-02-01

    Tremendous progress has been achieved in the last years in the field of ultrafast high-power sources. Among the different laser technologies driving this progress, thin-disk lasers (TDLs) have gained significant ground, both from amplifiers and modelocked oscillators. Modelocked TDLs are particularly attractive, as they allow for unprecedented high energy and average powers directly from an oscillator. The exponential progress in the performance of these sources drives growing needs for efficient means of beam delivery and pulse compression at high average power (< 100 W) and high peak power (> 10 MW). This remains a challenging regime for standard fiber solutions: microstructured large-mode-area silica photonic-crystal fibers (PCFs) are good candidates, but peak powers are limited to ≈4-6 MW by self-focusing. Hollow-core (HC) capillaries are adapted for higher peak powers, but exhibit high losses and are not suitable for compact beam delivery. In parallel to the progress achieved in the performance of ultrafast laser systems, recent progress in novel hollow-core PCF designs are currently emerging as an excellent solution for these challenges. In particular, Inhibited-coupling Kagome-type HC-PCFs are particularly promising: their intrinsic guiding properties allow for extremely high damage thresholds, low losses over wide transmission windows and ultra-low dispersion. In our most recent results, we achieve pulse compression in the hundred-watt average power regime using Kagome-type HC-PCFs. We launch 127-W, 18-μJ, 740-fs pulses from our modelocked TDL into an Ar-filled fiber (13 bar), reaching 93% transmission. The resulting spectral broadening allows us to compress the pulses to 88 fs at 112 W of average power, reaching 105 MW of peak power, at 88% compression efficiency. These results demonstrate the outstanding suitability of Kagome HC-PCFs for compression and beam delivery of state-of-the-art kilowatt-class ultrafast systems.

  3. Gerbode Defect of Congenital Variety in an Infant: A Case Report

    PubMed Central

    Kumar, Ravindra; Abhinay, Abhishek; Prasad, Rajniti; Mishra, Om Prakash

    2016-01-01

    Gerbode defect is a rare communication from left ventricle to right atrium. It is of two types: congenital versus acquired OR Direct (type I) versus Indirect (type II). Acquired forms are more common and increasingly reported than congenital. We report a second Indian case of such a rare defect and highlight the salient points of all such previously reported cases to make aware the clinicians and paediatricians of need of early diagnosis and timely surgery/ referral for successful outcome. PMID:27042552

  4. A success story in congenital adrenal hyperplasia.

    PubMed

    Kriplani, Alka; Lunkad, Amol; Agarwal, Nutan; Kulshreshtha, Bindu; Ariachery, C Aminni

    2012-12-01

    Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by enzyme defects in adrenal steroidogenic pathways. CAH due to 21-hydroxylase deficiency accounts for 95 % of cases. This case was diagnosed to have simple virilizing type of CAH and started on dexamethasone, and underwent genitoplasty and clitoroplasty at 25 years of age, then was married 3 years after surgery and conceived spontaneously 2 years after marriage, to deliver a healthy male baby. Thus, proper diagnosis and treatment with steroids and genitoplasty can give females with CAH a normal sexual, normal menstrual, and reproductive function.

  5. PGC-1alpha plays a functional role in exercise-induced mitochondrial biogenesis and angiogenesis but not fiber-type transformation in mouse skeletal muscle.

    PubMed

    Geng, Tuoyu; Li, Ping; Okutsu, Mitsuharu; Yin, Xinhe; Kwek, Jyeyi; Zhang, Mei; Yan, Zhen

    2010-03-01

    Endurance exercise stimulates peroxisome proliferator-activated receptor gamma coactivator-1alpha (PGC-1alpha) expression in skeletal muscle, and forced expression of PGC-1alpha changes muscle metabolism and exercise capacity in mice. However, it is unclear if PGC-1alpha is indispensible for endurance exercise-induced metabolic and contractile adaptations in skeletal muscle. In this study, we showed that endurance exercise-induced expression of mitochondrial enzymes (cytochrome oxidase IV and cytochrome c) and increases of platelet endothelial cell adhesion molecule-1 (PECAM-1, CD31)-positive endothelial cells in skeletal muscle, but not IIb-to-IIa fiber-type transformation, were significantly attenuated in muscle-specific Pgc-1alpha knockout mice. Interestingly, voluntary running effectively restored the compromised mitochondrial integrity and superoxide dismutase 2 (SOD2) protein expression in skeletal muscle in Pgc-1alpha knockout mice. Thus, PGC-1alpha plays a functional role in endurance exercise-induced mitochondrial biogenesis and angiogenesis, but not IIb-to-IIa fiber-type transformation in mouse skeletal muscle, and the improvement of mitochondrial morphology and antioxidant defense in response to endurance exercise may occur independently of PGC-1alpha function. We conclude that PGC-1alpha is required for complete skeletal muscle adaptations induced by endurance exercise in mice. PMID:20032509

  6. Estrogen/ERR-α signaling axis is associated with fiber-type conversion of upper airway muscles in patients with obstructive sleep apnea hypopnea syndrome

    PubMed Central

    Chen, H. H.; Lu, J.; Guan, Y. F.; Li, S. J.; Hu, T. T.; Xie, Z. S.; Wang, F.; Peng, X. H.; Liu, X.; Xu, X.; Zhao, F. P.; Yu, B. L.; Li, X. P.

    2016-01-01

    Estrogen is related with the low morbidity associated with obstructive sleep apnea hypopnea syndrome (OSAS) in women, but the underlying mechanisms remain largely unknown. In this study, we examined the relationship between OSAS and estrogen related receptor-α (ERR-α). We found that the expression levels of ERR-α and Myh7 were both downregulated in palatopharyngeal tissues from OSAS patients. In addition, we report that ERR-α is dynamically expressed during differentiation of C2C12 myoblasts. Knockdown of ERR-α via instant siRNA resulted in reduced expression of Myh7, but not Myh4. Furthermore, differentiation of C2C12 cells under 3% chronic intermittent hypoxia, a model resembling human OSAS, was impaired and accompanied by a obvious reduction in Myh7 expression levels. Moreover, activation of ERR-α with 17β-estradiol (E2) increased the expression of Myh7, whereas pretreatment with the ERR-α antagonist XCT790 reversed the E2-induced slow fiber-type switch. A rat ovariectomy model also demonstrated the switch to fast fiber type. Collectively, our findings suggest that ERR-α is involved in estrogen-mediated OSAS by regulating Myhc-slow expression. The present study illustrates an important role of the estrogen/ERR-α axis in the pathogenesis of OSAS, and may represent an attractive therapeutic target, especially in postmenopausal women. PMID:27250523

  7. Congenital cataracts and other abnormalities in a female with 46.X, del(X)(q26q28)mat: A new locus for X-linked congenital cataract?

    SciTech Connect

    Babul, R.; Chitayat, D.; Teshima, I.

    1994-09-01

    Three forms of X-linked congenital cataracts have been delineated: congenital cataract with posterior Y-sutural opacities in heterozygotes, congenital cataract and microcornea or microphthalmia and congenital cataract-dental syndrome (Nance-Horan syndrome). Of these, only the Nance-Horan syndrome has been mapped to Xp22.3-p21.1. However, Warburg has suggested that these different forms of X-linked congenital cataracts are due to deletions of varying sizes, placing them in the vicinity of the Nance-Horan syndrome region. We report on a female patient born to a 29-year-old primigravida woman who at birth was found to have hypotonia, dysmorphic facial features, hydrocephalus and dense white congenital bilateral cataracts. Other ophthalmological findings included bilateral nystagmus and shallow orbits. Chromosome analysis revealed 46,X,del(X)(q26q28)mat. The mother, however, is phenotypically normal. Brain CT scan on the female infant revealed communicating hydrocephalus and a muscle biopsy showed congenital muscle fiber disproportion. An EMG and NCV were normal. At 4 years of age, her height and weight were below -3SD and her OFC was +2SD. Molecular studies using DNA markers located in Xq26-qter have revealed that the proximal breakpoint in the patient and her mother is defined by the HPRT locus while the distal breakpoint is defined by the locus DXS1108. This indicates that the deletion is not terminal but rather interstitial, retaining sequences proximal to the telomeric region. Other molecular studies are in progress to determine the X-inactivation status of the deleted chromosome in our patient and her mother as a possible explanation for the variation in the phenotype. These clinical and molecular findings suggest that another locus for X-linked congenital cataract exists at Xq26-28.

  8. Capillary stretching of fibers

    NASA Astrophysics Data System (ADS)

    Duprat, C.; Protiere, S.

    2015-09-01

    We study the interaction of a finite volume of liquid with two parallel thin flexible fibers. A tension along the fibers is imposed and may be varied. We report two morphologies, i.e. two types of wet adhesion: a weak capillary adhesion, where a liquid drop bridges the fibers, and a strong elastocapillary adhesion where the liquid is spread between two collapsed fibers. We show that geometry, capillarity and stretching are the key parameters at play. We describe the collapse and detachment of the fibers as a function of two nondimensional parameters, arising from the geometry of the system and a balance between capillary and stretching energies. In addition, we show that the morphology, thus the capillary adhesion, can be controlled by changing the tension within the fibers.

  9. [Congenital lumbar hernia].

    PubMed

    Peláez Mata, D J; Alvarez Muñoz, V; Fernández Jiménez, I; García Crespo, J M; Teixidor de Otto, J L

    1998-07-01

    Hernias in the lumbar region are abdominal wall defects that appear in two possible locations: the superior lumbar triangle of Grynfelt-Lesshaft and the inferior lumbar triangle of Petit. There are 40 cases reported in the pediatric literature, and only 16 are considered congenital, associated with the lumbocostovertebral syndrome and/or meningomyelocele. A new case is presented. A premature newborn with a mass in the left flank that increases when the patient cries and reduces easily. The complementary studies confirm the diagnosis of lumbar hernia and reveal the presence of lumbocostovertebral syndrome associated. At the time of operation a well defined fascial defect at the superior lumbar triangle of Grynfelt-Lesshaft is primarily closed. The diagnosis of lumbar hernia is not difficult to establish but it is necessary the screening of the lumbocostovertebral syndrome. We recommend the surgical treatment before 12 months of age; the objective is to close the defect primarily or to use prosthetic material if necessary. PMID:12602034

  10. [Consanguinity and congenital abnormalities].

    PubMed

    Søgaard, Marie; Vedsted-Jakobsen, Agnete

    2003-04-28

    Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

  11. Congenital mirror movements

    PubMed Central

    Méneret, Aurélie; Depienne, Christel; Riant, Florence; Trouillard, Oriane; Bouteiller, Delphine; Cincotta, Massimo; Bitoun, Pierre; Wickert, Julia; Lagroua, Isabelle; Westenberger, Ana; Borgheresi, Alessandra; Doummar, Diane; Romano, Marcello; Rossi, Simone; Defebvre, Luc; De Meirleir, Linda; Espay, Alberto J.; Fiori, Simona; Klebe, Stephan; Quélin, Chloé; Rudnik-Schöneborn, Sabine; Plessis, Ghislaine; Dale, Russell C.; Sklower Brooks, Susan; Dziezyc, Karolina; Pollak, Pierre; Golmard, Jean-Louis; Vidailhet, Marie; Brice, Alexis

    2014-01-01

    Objective: We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51. Methods: We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server. Results: We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of DCC, one DCC mutation leading to a frameshift, 5 missense variants in DCC, and 2 missense variants in RAD51. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (p < 0.001 for both RAD51 and DCC). Conclusion: Mutations and variants in DCC and RAD51 are strongly associated with CMM, but additional genes causing CMM remain to be discovered. PMID:24808016

  12. [Congenital foot abnormalities].

    PubMed

    Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

    2015-03-01

    The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities. PMID:25524290

  13. [Current Management of Congenital Diaphragmatic Hernia].

    PubMed

    Sakoda, Akiko; Matsufuji, Hiroshi

    2015-07-01

    Three types of congenital diaphragmatic hernias( Bochdalek hernia, Morgagni hernia, and esophageal hiatus hernia) are described with case presentation. In the Bochdalek hernia, the most common type of congenital diaphragmatic hernia, abdominal contents pass into the thorac bia diaphragmatic defect, limiting the space available for the developing lungs. Resulting lung hypoplasia, many infants experience severe respiratory distress within minutes of birth and may require resuscitation and stabilization of cardio-pulmonary function prior to surgery. The Morgagni hernia is rare and often incidentally diagnosed on routine chest x-ray in asymptomatic patients. Repair is still advisable due to risk of strangulated bowel and respiratory distress. Esophageal hiatal hernias usually produce symptoms of gastroesophageal reflux( GERD) and rarely result in incarceration of stomach or other organs. Surgical interventions for GERD, such as Nissen fundoplication, usually target neurologically impaired children in order to prevent aspiration pneumonia and improve quality of life. Laparoscopic surgery is beneficial for all types of diaphragmatic hernia, especially in older children, but careful consideration should be made based on individual patient background. PMID:26197915

  14. In situ fabrication of depth-type hierarchical CNT/quartz fiber filters for high efficiency filtration of sub-micron aerosols and high water repellency

    NASA Astrophysics Data System (ADS)

    Li, Peng; Zong, Yichen; Zhang, Yingying; Yang, Mengmeng; Zhang, Rufan; Li, Shuiqing; Wei, Fei

    2013-03-01

    We fabricated depth-type hierarchical CNT/quartz fiber (QF) filters through in situ growth of CNTs upon quartz fiber (QF) filters using a floating catalyst chemical vapor deposition (CVD) method. The filter specific area of the CNT/QF filters is more than 12 times higher than that of the pristine QF filters. As a result, the penetration of sub-micron aerosols for CNT/QF filters is reduced by two orders of magnitude, which reaches the standard of high-efficiency particulate air (HEPA) filters. Simultaneously, due to the fluffy brush-like hierarchical structure of CNTs on QFs, the pore size of the hybrid filters only has a small increment. The pressure drop across the CNT/QF filters only increases about 50% with respect to that of the pristine QF filters, leading to an obvious increased quality factor of the CNT/QF filters. Scanning electron microscope images reveal that CNTs are very efficient in capturing sub-micron aerosols. Moreover, the CNT/QF filters show high water repellency, implying their superiority for applications in humid conditions.We fabricated depth-type hierarchical CNT/quartz fiber (QF) filters through in situ growth of CNTs upon quartz fiber (QF) filters using a floating catalyst chemical vapor deposition (CVD) method. The filter specific area of the CNT/QF filters is more than 12 times higher than that of the pristine QF filters. As a result, the penetration of sub-micron aerosols for CNT/QF filters is reduced by two orders of magnitude, which reaches the standard of high-efficiency particulate air (HEPA) filters. Simultaneously, due to the fluffy brush-like hierarchical structure of CNTs on QFs, the pore size of the hybrid filters only has a small increment. The pressure drop across the CNT/QF filters only increases about 50% with respect to that of the pristine QF filters, leading to an obvious increased quality factor of the CNT/QF filters. Scanning electron microscope images reveal that CNTs are very efficient in capturing sub-micron aerosols

  15. [Congenital uterine anomalies: diagnosis, prognosis and management in 2008].

    PubMed

    Rossier, Marie-Claude; Bays, Virginie; Vial, Yvan; Achtari, Chahin

    2008-10-22

    The müllerian anomalies or congenital uterine anomalies are relatively frequent if we keep in mind that 3-4% of our female patients present with a müllerian anomaly, although many among them are asymptomatic. It is important to evoke this diagnosis for all patients with a history of recurrent miscarriage, late abortion and premature delivery, for the adolescent consulting for primary amenorrhea, dysmenorrhea or dyspareunia as well as for the woman consulting for infertility. We will review pathogenesis, diagnostic methods, standard classification with a description of the different types of congenital uterine anomalies and the recommended management.

  16. Bochdalek Congenital Diaphragmatic Hernia in an Adult Sheep

    PubMed Central

    Williams, R. D.; Katz, M. G.; Fargnoli, A. S.; Kendle, A. P.; Mihalko, K. L.; Bridges, C. R.

    2016-01-01

    Summary Congenital diaphragmatic hernia (CDH) is a rare condition. The aetiology of CDH is often unclear. In our case, a hollow mass was noted on MRI. Cardiac ejection fraction was diminished (47.0%) compared to 60.5% (average of 10 other normal animals, P < 0.05). The final diagnosis of congenital diaphragmatic hernia (Bochdalek type) was made when the sheep underwent surgery. The hernia was right-sided and contained the abomasum. Lung biopsy demonstrated incomplete development with a low number of bronchopulmonary segments and vessels. The likely cause of this hernia was genetic malformation. PMID:26293994

  17. Congenital Microstomia in a Neonate with Impending Respiratory Compromise

    PubMed Central

    Nguyen, Khoa N.; Semenov, Igor; Blasiole, Brian; Robison, Jacob G.; Chi, David H.

    2014-01-01

    Microstomia is the term used to describe a reduction in the size of the oral aperture that is severe enough to compromise quality of life, nutrition, and cosmesis. Few cases of congenital microstomia have been reported as most microstomia cases are due to burn injuries. We are presenting a case of a neonate who was found to be in respiratory distress with severe congenital microstomia from no known cause. This case illustrates the rarity of this type of pathologic anatomy as well as the teamwork and tools necessary to treat these patients. PMID:25610661

  18. Congenital malformations of the vertebral column in ancient amphibians.

    PubMed

    Witzmann, F; Rothschild, B M; Hampe, O; Sobral, G; Gubin, Y M; Asbach, P

    2014-04-01

    Temnospondyls, the largest group of Palaeozoic and Mesozoic amphibians, primitively possess rhachitomous vertebrae with multipartite centra (consisting of one horse-shoe-shaped inter- and paired pleurocentra). In a group of temnospondyls, the stereospondyls, the intercentra became pronounced and disc-like, whereas the pleurocentra were reduced. We report the presence of congenital vertebral malformations (hemi, wedge and block vertebrae) in Permian and Triassic temnospondyls, showing that defects of formation and segmentation in the tetrapod vertebral column represent a fundamental failure of somitogenesis that can be followed throughout tetrapod evolution. This is irrespective of the type of affected vertebra, that is, rhachitomous or stereospondylous, and all components of the vertebra can be involved (intercentrum, pleurocentrum and neural arch), either together or independently on their own. This is the oldest known occurrence of wedge vertebra and congenital block vertebra described in fossil tetrapods. The frequency of vertebral congenital malformations in amphibians appears unchanged from the Holocene.

  19. Pseudoacromegaly in congenital generalised lipodystrophy (Berardinelli-Seip syndrome).

    PubMed

    Chakraborty, Partha Pratim; Datta, Saumik; Mukhopadhyay, Satinath; Chowdhury, Subhankar

    2016-01-01

    Pseudoacromegaly, or acromegaloidism, is characterised by a clinical appearance mimicking acromegaly in the absence of documented hypersomatotropism or past exposure to excess growth hormone. It can develop secondary to a number of congenital and acquired conditions of which severe insulin resistance is an important example. Lipodystrophy syndromes are a group of rare disorders of which autosomal recessive congenital generalised lipodystrophy is the most common type. Patients with this disorder are predisposed to insulin resistance and its associated complications such as diabetes mellitus, hypertriglyceridaemia, fatty liver, polycystic ovaries and acanthosis nigricans. Elevated circulating insulin levels in these patients rarely can give rise to soft tissue and bony overgrowth, with resultant acromegaloidism. We report an adolescent girl presenting with unusual prominence of her hands and feet; a thorough evaluation ultimately revealed a diagnosis of congenital generalised lipodystrophy. PMID:27068725

  20. Variability of cadmium, lead, and zinc tolerance and accumulation among and between germplasms of the fiber crop Boehmeria nivea with different root-types.

    PubMed

    Yang, B; Zhou, M; Zhou, L L; Xue, N D; Zhang, S L; Lan, C Y

    2015-09-01

    Crop germplasms substantially vary in their tolerance for and accumulation of heavy metals, and assessment of this variability plays a significant role in selecting species to use in phytoremediation projects. Here, we examined germplasm-variations in cadmium (Cd), lead (Pb), and zinc (Zn) tolerance and accumulation in ramie (Boehmeria nivea), a fiber crop native to China, which has received little attention. In an 8-week greenhouse test, fourteen germplasms of ramie, among and within deep, middle, and shallow rooted-types, were compared for growth and metal accumulation traits. Results showed that both tolerance and accumulation traits varied across germplasms and rooted-types. The deep rooted-type germplasms produced more biomass and had higher tolerance to metals than the two others. In addition, considerable variations in metal accumulation were observed among plant organs (root, stem, and leaf), rooted-types, germplasms, and metal supply. However, the observed variations in metal tolerance and accumulation among both germplasms and rooted-types were not significant in most cases. In addition to supporting the idea of a certain degree of constitutional metal tolerance for ramie, our results also contribute to deep-rooted germplasms of ramie as a good candidate, rather than middle-/shallow- ones as a least-bad option, for the remediation of multi metal-contaminated soils. PMID:25948381

  1. High-Speed Fiber Switches

    NASA Astrophysics Data System (ADS)

    Margulis, Walter; Tarasenko, Oleksandr; Yu, Zhangwei; Fonjallaz, Pierre-Yves; Knape, Harald

    2008-10-01

    All-fiber optical switches based on fiber with electrodes exhibit transition times <10 ns. The devices are monolithic and robust, they are simple and could potentially be manufactured at low cost. The insertion loss is extremely low and the devices are compatible with single mode fiber technology. Two types of switches are discussed, one based on polarization rotation, the other one relying on the wavelength shift of a fiber Bragg grating (FBG).

  2. Long-Term Effects of Botulinum Toxin Complex Type A Injection on Mechano- and Metabo-Sensitive Afferent Fibers Originating from Gastrocnemius Muscle

    PubMed Central

    Caron, Guillaume; Marqueste, Tanguy; Decherchi, Patrick

    2015-01-01

    The aim of the present study was to investigate long term effects of motor denervation by botulinum toxin complex type A (BoNT/A) from Clostridium Botulinum, on the afferent fibers originating from the gastrocnemius muscle of rats. Animals were divided in 2 experimental groups: 1) untreated animals acting as control and 2) treated animals in which the toxin was injected in the left muscle, the latter being itself divided into 3 subgroups according to their locomotor recovery with the help of a test based on footprint measurements of walking rats: i) no recovery (B0), ii) 50% recovery (B50) and iii) full recovery (B100). Then, muscle properties, metabosensitive afferent fiber responses to potassium chloride (KCl) and lactic acid injections and Electrically-Induced Fatigue (EIF), and mechanosensitive responses to tendon vibrations were measured. At the end of the experiment, rats were killed and the toxin injected muscles were weighted. After toxin injection, we observed a complete paralysis associated to a loss of force to muscle stimulation and a significant muscle atrophy, and a return to baseline when the animals recover. The response to fatigue was only decreased in the B0 group. The responses to KCl injections were only altered in the B100 groups while responses to lactic acid were altered in the 3 injected groups. Finally, our results indicated that neurotoxin altered the biphasic pattern of response of the mechanosensitive fiber to tendon vibrations in the B0 and B50 groups. These results indicated that neurotoxin injection induces muscle afferent activity alterations that persist and even worsen when the muscle has recovered his motor activity. PMID:26485650

  3. Matrix Cracking in 3D Orthogonal Melt-Infiltrated SiC/SiC Composites with Various Z-Fiber Types

    NASA Technical Reports Server (NTRS)

    Morscher, Gregory N.; Yun, Hee Mann; DiCarlo, James A.

    2003-01-01

    The occurrence of matrix cracks in melt-infiltrated SiC/SiC composites with a 3D orthogonal architecture was determined at room temperature for specimens tested in tension oriented in the X-direction (parallel to Z-bundle weave direction) and Y-direction (perpendicular to Z-bundle weave direction) and Y-direction (perpendicular to Z-bundle weave direction). The fiber-types were Sylramic and Sylramic-IBN in the X and Y-directions and lower modulus ZMI, T300, and rayon in the Z-direction. Acoustic emission (AE) was used to monitor the matrix cracking activity. For Y-direction composites, the AE data was used to determine the exact (+/- 0.25 mm) location where matrix cracks occurred in the 3D orthogonal architecture. This enabled the determination of the stress-dependent matrix crack distributions for small but repeatable matrix rich 'unidirectional' and the matrix poor 'cross-ply' regions within the architecture. It was found that matrix cracking initiated at very low stresses (approx. 40 MPa) in the 'unidirectional' regions for the largest z-direction fiber tow composites. Decreasing the size of the z-fiber bundle, increased the stress for matrix cracking in the 'unidirectional' regions. Matrix cracking in the 'cross-ply' regions always occurred at higher stresses than in 'unidirectional' regions, and the stress-dependent matrix crack distribution of the 'cross-ply' regions was always over a wider stress-range than the 'unidirectional' regions. For composites tested in the X-direction, a lower elastic modulus and a narrower and lower stress-range for matrix cracking were observed compared to composites tested in the Y-direction.

  4. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered. PMID:26769614

  5. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  6. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively.

  7. Congenital Vascular Malformation

    MedlinePlus

    ... types. The more primitive ones appear as thinwalled lakes in which venous blood collects and when they ... collection of grape-like clusters of these venous lakes. This type usually does not affect the venous ...

  8. Fiber biology

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cotton fiber cells arising from seed epidermis is the most important agricultural textile commodity in the world. To produce fully mature fibers, approximately two months of fiber developmental process are required. The timing of four distinctive fiber development stages consisting of initiation, ...

  9. Genetics Home Reference: congenital dyserythropoietic anemia

    MedlinePlus

    ... Understand Genetics Home Health Conditions CDA congenital dyserythropoietic anemia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  10. Care and Treatment for Congenital Heart Defects

    MedlinePlus

    ... Physical Activity Recommendations for Heart Health • Tools & Resources Web Booklets on Congenital Heart Defects These online publications ... to you or your child’s defect and concerns. Web Booklet: Adults With Congenital Heart Defects Web Booklet: ...

  11. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  12. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity.

  13. Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.

    PubMed

    Veenma, Danielle; Brosens, Erwin; de Jong, Elisabeth; van de Ven, Cees; Meeussen, Connie; Cohen-Overbeek, Titia; Boter, Marjan; Eussen, Hubertus; Douben, Hannie; Tibboel, Dick; de Klein, Annelies

    2012-03-01

    The occurrence of phenotypic differences between monozygotic (MZ) twins is commonly attributed to environmental factors, assuming that MZ twins have a complete identical genetic make-up. Yet, recently several lines of evidence showed that both genetic and epigenetic factors could have a role in phenotypic discordance after all. A high occurrence of copy number variation (CNV) differences was observed within MZ twin pairs discordant for Parkinson's disease, thereby stressing on the importance of post-zygotic mutations as disease-predisposing events. In this study, the prevalence of discrepant CNVs was analyzed in discordant MZ twins of the Esophageal Atresia (EA) and Congenital Diaphragmatic Hernia (CDH) cohort in the Netherlands. Blood-derived DNA from 11 pairs (7 EA and 4 CDH) was screened using high-resolution SNP arrays. Results showed an identical copy number profile in each twin pair. Mosaic chromosome gain or losses could not be detected either with a detection threshold of 20%. Some of the germ-line structural events demonstrated in five out of eleven twin pairs could function as a susceptible genetic background. For example, the 177-Kb loss of chromosome 10q26 in CDH pair-3 harbors the TCF7L2 gene (Tcf4 protein), which is implicated in the regulation of muscle fiber type development and maturation. In conclusion, discrepant CNVs are not a common cause of twin discordancy in these investigated congenital anomaly cohorts. PMID:22071887

  14. In situ fabrication of depth-type hierarchical CNT/quartz fiber filters for high efficiency filtration of sub-micron aerosols and high water repellency.

    PubMed

    Li, Peng; Zong, Yichen; Zhang, Yingying; Yang, Mengmeng; Zhang, Rufan; Li, Shuiqing; Wei, Fei

    2013-04-21

    We fabricated depth-type hierarchical CNT/quartz fiber (QF) filters through in situ growth of CNTs upon quartz fiber (QF) filters using a floating catalyst chemical vapor deposition (CVD) method. The filter specific area of the CNT/QF filters is more than 12 times higher than that of the pristine QF filters. As a result, the penetration of sub-micron aerosols for CNT/QF filters is reduced by two orders of magnitude, which reaches the standard of high-efficiency particulate air (HEPA) filters. Simultaneously, due to the fluffy brush-like hierarchical structure of CNTs on QFs, the pore size of the hybrid filters only has a small increment. The pressure drop across the CNT/QF filters only increases about 50% with respect to that of the pristine QF filters, leading to an obvious increased quality factor of the CNT/QF filters. Scanning electron microscope images reveal that CNTs are very efficient in capturing sub-micron aerosols. Moreover, the CNT/QF filters show high water repellency, implying their superiority for applications in humid conditions. PMID:23467703

  15. Flexible coaxial-type fiber solid-state asymmetrical supercapacitor based on Ni3S2 nanorod array and pen ink electrodes

    NASA Astrophysics Data System (ADS)

    Wen, Jian; Li, Songzhan; Zhou, Kai; Song, Zengcai; Li, Borui; Chen, Zhao; Chen, Tian; Guo, Yaxiong; Fang, Guojia

    2016-08-01

    Fiber supercapacitors have attracted public attentions because of their merits of relatively high capacitance density, flexibility and easy integration with various electronic devices. In this work, a flexible coaxial-type fiber solid-state asymmetrical supercapacitor (ASC) based on Ni3S2 nanorod array electrode and pen ink electrode was successfully fabricated. The Ni3S2 nanorod array electrode was synthesized by directly growing Ni3S2 nanorod arrays on a nickel wire through a facile hydrothermal method and the pen ink electrode as negative electrode was synthesized by a simple dip-coating method. The solid-state ASC device presents a stable voltage window of 1.4 V and behaves a high specific capacitance of 34.9 F g-1 (87.25 F cm-1) at a scan rate of 10 mV s-1. Compared with the symmetric supercapacitor (SSC) based on Ni3S2 electrodes, the ASC device provide an increased energy density of 8.2 Wh kg-1 (0.81 mWh cm-3) at the power density of 214.6 W kg-1 (21.12 mW cm-3). In addition, the ASC device also exhibits excellent electrochemical stability with 93.1% of initial specific capacitance after 3000 consecutive cycles and good mechanical stability. These encouraging results present its great potential in flexible solid-state energy storage devices.

  16. Beam delivery and pulse compression to sub-50 fs of a modelocked thin-disk laser in a gas-filled Kagome-type HC-PCF fiber.

    PubMed

    Emaury, Florian; Dutin, Coralie Fourcade; Saraceno, Clara J; Trant, Mathis; Heckl, Oliver H; Wang, Yang Y; Schriber, Cinia; Gerome, Frederic; Südmeyer, Thomas; Benabid, Fetah; Keller, Ursula

    2013-02-25

    We present two experiments confirming that hypocycloid Kagome-type hollow-core photonic crystal fibers (HC-PCFs) are excellent candidates for beam delivery of MW peak powers and pulse compression down to the sub-50 fs regime. We demonstrate temporal pulse compression of a 1030-nm Yb:YAG thin disk laser providing 860 fs, 1.9 µJ pulses at 3.9 MHz. Using a single-pass grating pulse compressor, we obtained a pulse duration of 48 fs (FWHM), a spectral bandwidth of 58 nm, and an average output power of 4.2 W with an overall power efficiency into the final polarized compressed pulse of 56%. The pulse energy was 1.1 µJ. This corresponds to a peak power of more than 10 MW and a compression factor of 18 taking into account the exact temporal pulse profile measured with a SHG FROG. The compressed pulses were close to the transform limit of 44 fs. Moreover, we present transmission of up to 97 µJ pulses at 10.5 ps through 10-cm long fiber, corresponding to more than twice the critical peak power for self-focusing in silica.

  17. Flexible coaxial-type fiber solid-state asymmetrical supercapacitor based on Ni3S2 nanorod array and pen ink electrodes

    NASA Astrophysics Data System (ADS)

    Wen, Jian; Li, Songzhan; Zhou, Kai; Song, Zengcai; Li, Borui; Chen, Zhao; Chen, Tian; Guo, Yaxiong; Fang, Guojia

    2016-08-01

    Fiber supercapacitors have attracted public attentions because of their merits of relatively high capacitance density, flexibility and easy integration with various electronic devices. In this work, a flexible coaxial-type fiber solid-state asymmetrical supercapacitor (ASC) based on Ni3S2 nanorod array electrode and pen ink electrode was successfully fabricated. The Ni3S2 nanorod array electrode was synthesized by directly growing Ni3S2 nanorod arrays on a nickel wire through a facile hydrothermal method and the pen ink electrode as negative electrode was synthesized by a simple dip-coating method. The solid-state ASC device presents a stable voltage window of 1.4 V and behaves a high specific capacitance of 34.9 F g-1 (87.25 F cm-1) at a scan rate of 10 mV s-1. Compared with the symmetric supercapacitor (SSC) based on Ni3S2 electrodes, the ASC device provide an increased energy density of 8.2 Wh kg-1 (0.81 mWh cm-3) at the power density of 214.6 W kg-1 (21.12 mW cm-3). In addition, the ASC device also exhibits excellent electrochemical stability with 93.1% of initial specific capacitance after 3000 consecutive cycles and good mechanical stability. These encouraging results present its great potential in flexible solid-state energy storage devices.

  18. Congenital Sialolipoma in an Infant.

    PubMed

    Mazlumoglu, Muhammed Recai; Altas, Enver; Oner, Fatih; Ucuncu, Harun; Calik, Muhammed

    2015-11-01

    Sialolipoma is a newly recognized tumor of the major and minor salivary glands and represents only 0.3% of all salivary gland tumors. Only 3 cases of congenital sialolipoma are available in the literature. In the current case, we performed a total parotidectomy with facial nerve preservation on a 12-week-old infant exhibiting huge mass in the parotid region. Histopathology results showed sialolipoma. There was no recurrence at the 18-month follow-up. Although it is a very rare disease in infants, congenital sialolipoma should be kept in mind in patients with parotid mass. The primary treatment is parotidectomy with facial nerve preservation. PMID:26594977

  19. [Congenital lumbar hernia and bilateral renal agenesis].

    PubMed

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia. PMID:17650728

  20. [Congenital lumbar hernia and bilateral renal agenesis].

    PubMed

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia.

  1. Risks and Benefits of Exercise Training in Adults With Congenital Heart Disease.

    PubMed

    Chaix, Marie-A; Marcotte, François; Dore, Annie; Mongeon, François-Pierre; Mondésert, Blandine; Mercier, Lise-Andrée; Khairy, Paul

    2016-04-01

    Exercise capacity in adults with various forms of congenital heart disease is substantially lower than that of the general population. Although the underlying congenital heart defect, and its sequelae, certainly contribute to observed exercise limitations, there is evidence suggesting that deconditioning and a sedentary lifestyle are important implicated factors. The prevalence of acquired cardiovascular comorbidities is on the increase in the aging population with congenital heart disease, such that obesity and a sedentary lifestyle confer increased risk. Health fears and misconceptions are common barriers to regular physical activity in adults with congenital heart disease, despite evidence linking lower functional capacity to poor outcomes, and data supporting the safety and efficacy of exercise in bestowing numerous physical and psychosocial rewards. With few exceptions, adults with congenital heart disease should be counselled to exercise regularly. In this contemporary review, we provide a practical approach to assessing adults with congenital heart disease before exercise training. We examine available evidence supporting the safety and benefits of exercise training. Risks associated with exercise training in adults with congenital heart disease are discussed, particularly with regard to sudden cardiac death. Finally, recommendations for exercise training are provided, with consideration for the type of congenital heart disease, the nature (ie, static vs dynamic) and intensity (ie, low, medium, high) of the physical activity, and associated factors such as systemic ventricular dysfunction and residual defects. Further research is required to determine optimal exercise regimens and to identify effective strategies to implement exercise training as a key determinant of healthy living. PMID:26868839

  2. Influence of dietary fiber type and amount on energy and nutrient digestibility, fecal characteristics, and fecal fermentative end-product concentrations in captive exotic felids fed a raw beef-based diet.

    PubMed

    Kerr, K R; Morris, C L; Burke, S L; Swanson, K S

    2013-05-01

    Little nutritional or metabolic information has been collected from captive exotic cats fed raw diets. In particular, fiber types and concentrations for use in raw meat-based diets for captive exotic felids have not been well studied. Our objective was to evaluate the effects of fiber type and concentration on apparent total tract energy and macronutrient digestibility, fecal characteristics, and fecal fermentative end-products in captive exotic felids. Four animals of each captive exotic species (jaguar (Panthera onca), cheetah (Acinonyz jubatus), Malayan tiger (Panthera tigris corbetti), and Siberian tiger (Panthera tigris altaica) were randomized in four 4 × 4 Latin square designs (1 Latin square per species) to 1 of the 4 raw beef-based dietary treatments (94.7 to 96.7% beef trimmings): 2 or 4% cellulose or 2 or 4% beet pulp. Felid species, fiber type, and fiber concentration all impacted digestibility and fecal fermentative end-products. Inclusion of beet pulp increased (P ≤ 0.05) fecal short-chain fatty acids and fecal output in all cats. Inclusion of 2 and 4% cellulose, and 4% beet pulp increased (P ≤ 0.05) fecal bulk and diluted fecal branched-chain fatty acid concentrations compared with 2% beet pulp. Apparent total tract DM, OM, fat, and GE digestibility coefficients decreased (P ≤ 0.05) linearly with BW of cats. Additionally, fecal moisture, fecal score, and concentrations of fermentative end-products increased (P ≤ 0.05) with BW. Although the response of many outcomes was dependent on cat size, in general, beet pulp increased wet fecal weight, fecal scores, and fecal metabolites, and reduced fecal pH. Cellulose generally reduced DM and OM digestibility, but increased dry fecal weight and fecal percent DM. Although beet pulp and cellulose fibers were tested individually in this study, these data indicate that the optimum fiber type and concentration for inclusion in captive exotic felid diets is likely a combination of fermentable and

  3. Influence of dietary fiber type and amount on energy and nutrient digestibility, fecal characteristics, and fecal fermentative end-product concentrations in captive exotic felids fed a raw beef-based diet.

    PubMed

    Kerr, K R; Morris, C L; Burke, S L; Swanson, K S

    2013-05-01

    Little nutritional or metabolic information has been collected from captive exotic cats fed raw diets. In particular, fiber types and concentrations for use in raw meat-based diets for captive exotic felids have not been well studied. Our objective was to evaluate the effects of fiber type and concentration on apparent total tract energy and macronutrient digestibility, fecal characteristics, and fecal fermentative end-products in captive exotic felids. Four animals of each captive exotic species (jaguar (Panthera onca), cheetah (Acinonyz jubatus), Malayan tiger (Panthera tigris corbetti), and Siberian tiger (Panthera tigris altaica) were randomized in four 4 × 4 Latin square designs (1 Latin square per species) to 1 of the 4 raw beef-based dietary treatments (94.7 to 96.7% beef trimmings): 2 or 4% cellulose or 2 or 4% beet pulp. Felid species, fiber type, and fiber concentration all impacted digestibility and fecal fermentative end-products. Inclusion of beet pulp increased (P ≤ 0.05) fecal short-chain fatty acids and fecal output in all cats. Inclusion of 2 and 4% cellulose, and 4% beet pulp increased (P ≤ 0.05) fecal bulk and diluted fecal branched-chain fatty acid concentrations compared with 2% beet pulp. Apparent total tract DM, OM, fat, and GE digestibility coefficients decreased (P ≤ 0.05) linearly with BW of cats. Additionally, fecal moisture, fecal score, and concentrations of fermentative end-products increased (P ≤ 0.05) with BW. Although the response of many outcomes was dependent on cat size, in general, beet pulp increased wet fecal weight, fecal scores, and fecal metabolites, and reduced fecal pH. Cellulose generally reduced DM and OM digestibility, but increased dry fecal weight and fecal percent DM. Although beet pulp and cellulose fibers were tested individually in this study, these data indicate that the optimum fiber type and concentration for inclusion in captive exotic felid diets is likely a combination of fermentable and

  4. Selectable dual-wavelength erbium-doped fiber laser with stable single-longitudinal-mode utilizing eye-type compound-ring configuration

    NASA Astrophysics Data System (ADS)

    Yeh, Chien-Hung; Chen, Jhih-Yu; Chen, Hone-Zhang; Chow, Chi-Wai

    2016-08-01

    In this paper, a tunable dual-wavelength erbium-doped fiber (EDF) ring laser with stable single-longitudinal-mode (SLM) under a tuning range of 1530.0-1560.0 nm is proposed and demonstrated. Here, the mode spacing of lasing dual-wavelength from 1.0 to 30.0 nm can be selected arbitrarily in any wavelength position. To accomplish the SLM output, the eye-type compound-ring scheme is proposed inside ring cavity for suppressing the multi-longitudinal-mode (MLM) highly. The entire measured output power and optical signal to noise ratio (OSNR) of each dual-wavelength are larger than -13.3 dBm and 60 dB respectively. In addition, the output stability measurement of proposed EDF laser is also performed and analyzed.

  5. A cylindrical core-shell-like TiO2 nanotube array anode for flexible fiber-type dye-sensitized solar cells

    PubMed Central

    2011-01-01

    A versatile anodization method was reported to anodize Ti wires into cylindrical core-shell-like and thermally crystallized TiO2 nanotube (TNT) arrays that can be directly used as the photoanodes for semi- and all-solid fiber-type dye-sensitized solar cells (F-DSSC). Both F-DSSCs showed higher power conversion efficiencies than or competitive to those of previously reported counterparts fabricated by depositing TiO2 particles onto flexible substrates. The substantial enhancement is presumably attributed to the reduction of grain boundaries and defects in the prepared TNT anodes, which may suppress the recombination of the generated electrons and holes, and accordingly lead to more efficient carrier-transfer channels. PMID:21711629

  6. High sensitive reflection type long period fiber grating biosensor for real time detection of thyroglobulin, a differentiated thyroid cancer biomarker: the Smart Health project

    NASA Astrophysics Data System (ADS)

    Quero, G.; Severino, R.; Vaiano, P.; Consales, M.; Ruvo, M.; Sandomenico, A.; Borriello, A.; Giordano, M.; Zuppolini, S.; Diodato, L.; Cutolo, A.; Cusano, A.

    2015-09-01

    We report the development of a reflection-type long period fiber grating (LPG) biosensor able to perform the real time detection of thyroid cancer markers in the needle washout of fine-needle aspiration biopsy. A standard LPG is first transformed in a practical probe working in reflection mode, then it is coated by an atactic-polystyrene overlay in order to increase its surrounding refractive index sensitivity and to provide, at the same time, the desired interfacial properties for a stable bioreceptor immobilization. The results provide a clear demonstration of the effectiveness and sensitivity of the developed biosensing platform, allowing the in vitro detection of human Thyroglobulin at sub-nanomolar concentrations.

  7. Role of estrogen on skeletal muscle mitochondrial function in ovariectomized rats: a time course study in different fiber types.

    PubMed

    Cavalcanti-de-Albuquerque, J P A; Salvador, I C; Martins, Eduarda Lopes; Jardim-Messeder, D; Werneck-de-Castro, J P S; Galina, A; Carvalho, D P

    2014-04-01

    Postmenopausal women are prone to develop obesity and insulin resistance, which might be related to skeletal muscle mitochondrial dysfunction. In a rat model of ovariectomy (OVX), skeletal muscle mitochondrial function was examined at short- and long-term periods after castration. Mitochondrial parameters in the soleus and white gastrocnemius muscle fibers were analyzed. Three weeks after surgery, there were no differences in coupled mitochondrial respiration (ATP synthesis) with pyruvate, malate, and succinate; proton leak respiration; or mitochondrial reactive oxygen species production. However, after 3 wk of OVX, the soleus and white gastrocnemius muscles of the OVX animals showed a lower use of palmitoyl-carnitine and glycerol-phosphate substrates, respectively, and decreased peroxisome proliferator-activated receptor-γ coactivator-1α expression. Estrogen replacement reverted all of these phenotypes. Eight weeks after OVX, ATP synthesis was lower in the soleus and white gastrocnemius muscles of the OVX animals than in the sham-operated and estrogen-treated animals; however, when normalized by citrate synthase activity, these differences disappeared, indicating a lower muscle mitochondria content. No differences were observed in the proton leak parameter. Mitochondrial alterations did not impair the treadmill exercise capacity of the OVX animals. However, blood lactate levels in the OVX animals were higher after the physical test, indicating a compensatory extramitochondrial ATP synthesis system, but this phenotype was reverted by estrogen replacement. These results suggest early mitochondrial dysfunction related to lipid substrate use, which could be associated with the development of the overweight phenotype of ovariectomized animals.

  8. Model Study of the Influence of Ambient Temperature and Installation Types on Surface Temperature Measurement by Using a Fiber Bragg Grating Sensor.

    PubMed

    Liu, Yi; Zhang, Jun

    2016-01-01

    Surface temperature is an important parameter in clinical diagnosis, equipment state control, and environmental monitoring fields. The Fiber Bragg Grating (FBG) temperature sensor possesses numerous significant advantages over conventional electrical sensors, thus it is an ideal choice to achieve high-accuracy surface temperature measurements. However, the effects of the ambient temperature and installation types on the measurement of surface temperature are often overlooked. A theoretical analysis is implemented and a thermal transfer model of a surface FBG sensor is established. The theoretical and simulated analysis shows that both substrate strain and the temperature difference between the fiber core and hot surface are the most important factors which affect measurement accuracy. A surface-type temperature standard setup is proposed to study the measurement error of the FBG temperature sensor. Experimental results show that there are two effects influencing measurement results. One is the "gradient effect". This results in a positive linear error with increasing surface temperature. Another is the "substrate effect". This results in a negative non-linear error with increasing surface temperature. The measurement error of the FBG sensor with single-ended fixation are determined by the gradient effect and is a linear error. It is not influenced by substrate expansion. Thus, it can be compensated easily. The measurement errors of the FBG sensor with double-ended fixation are determined by the two effects and the substrate effect is dominant. The measurement error change trend of the FBG sensor with fully-adhered fixation is similar to that with double-ended fixation. The adhesive layer can reduce the two effects and measurement error. The fully-adhered fixation has lower error, however, it is easily affected by substrate strain. Due to its linear error and strain-resistant characteristics, the single-ended fixation will play an important role in the FBG sensor

  9. Model Study of the Influence of Ambient Temperature and Installation Types on Surface Temperature Measurement by Using a Fiber Bragg Grating Sensor

    PubMed Central

    Liu, Yi; Zhang, Jun

    2016-01-01

    Surface temperature is an important parameter in clinical diagnosis, equipment state control, and environmental monitoring fields. The Fiber Bragg Grating (FBG) temperature sensor possesses numerous significant advantages over conventional electrical sensors, thus it is an ideal choice to achieve high-accuracy surface temperature measurements. However, the effects of the ambient temperature and installation types on the measurement of surface temperature are often overlooked. A theoretical analysis is implemented and a thermal transfer model of a surface FBG sensor is established. The theoretical and simulated analysis shows that both substrate strain and the temperature difference between the fiber core and hot surface are the most important factors which affect measurement accuracy. A surface-type temperature standard setup is proposed to study the measurement error of the FBG temperature sensor. Experimental results show that there are two effects influencing measurement results. One is the “gradient effect”. This results in a positive linear error with increasing surface temperature. Another is the “substrate effect”. This results in a negative non-linear error with increasing surface temperature. The measurement error of the FBG sensor with single-ended fixation are determined by the gradient effect and is a linear error. It is not influenced by substrate expansion. Thus, it can be compensated easily. The measurement errors of the FBG sensor with double-ended fixation are determined by the two effects and the substrate effect is dominant. The measurement error change trend of the FBG sensor with fully-adhered fixation is similar to that with double-ended fixation. The adhesive layer can reduce the two effects and measurement error. The fully-adhered fixation has lower error, however, it is easily affected by substrate strain. Due to its linear error and strain-resistant characteristics, the single-ended fixation will play an important role in the FBG

  10. Role of Calpain in the Formation of Human Papillomavirus Type 16 E1^E4 Amyloid Fibers and Reorganization of the Keratin Network ▿ ‡

    PubMed Central

    Khan, Jameela; Davy, Clare E.; McIntosh, Pauline B.; Jackson, Deborah J.; Hinz, Steven; Wang, Qian; Doorbar, John

    2011-01-01

    The human papillomavirus (HPV) type 16 E1^E4 (16E1^E4) protein is expressed in the middle to upper layers of infected epithelium and has several roles within the virus life cycle. It is apparent that within the epithelium there are multiple species of 16E1^E4 that differ in length and/or degree of phosphorylation and that some or all of these can associate with the cellular keratin networks, leading to network disruption. We show here that the cellular cysteine protease calpain cleaves the 16E1^E4 protein after amino acid 17 to generate species that lack the N terminus. These C-terminal fragments are able to multimerize and form amyloid-like fibers. This can lead to accumulation of 16E1^E4 and disruption of the normal dynamics of the keratin networks. The cleavage of E1^E4 proteins by calpain may be a common strategy used by α-group viruses, since we show that cleavage of type 18 E1^E4 in raft culture is also dependent on calpain. Interestingly, the cleavage of 16E1^E4 by calpain appears to be highly regulated as differentiation of HPV genome-containing cells by methylcellulose is insufficient to induce cleavage. We hypothesize that this is important since it ensures that the formation of the amyloid fibers is not prematurely triggered in the lower layers and is restricted to the upper layers, where calpain is active and where disruption of the keratin networks may aid virus release. PMID:21752901

  11. Model Study of the Influence of Ambient Temperature and Installation Types on Surface Temperature Measurement by Using a Fiber Bragg Grating Sensor.

    PubMed

    Liu, Yi; Zhang, Jun

    2016-07-01

    Surface temperature is an important parameter in clinical diagnosis, equipment state control, and environmental monitoring fields. The Fiber Bragg Grating (FBG) temperature sensor possesses numerous significant advantages over conventional electrical sensors, thus it is an ideal choice to achieve high-accuracy surface temperature measurements. However, the effects of the ambient temperature and installation types on the measurement of surface temperature are often overlooked. A theoretical analysis is implemented and a thermal transfer model of a surface FBG sensor is established. The theoretical and simulated analysis shows that both substrate strain and the temperature difference between the fiber core and hot surface are the most important factors which affect measurement accuracy. A surface-type temperature standard setup is proposed to study the measurement error of the FBG temperature sensor. Experimental results show that there are two effects influencing measurement results. One is the "gradient effect". This results in a positive linear error with increasing surface temperature. Another is the "substrate effect". This results in a negative non-linear error with increasing surface temperature. The measurement error of the FBG sensor with single-ended fixation are determined by the gradient effect and is a linear error. It is not influenced by substrate expansion. Thus, it can be compensated easily. The measurement errors of the FBG sensor with double-ended fixation are determined by the two effects and the substrate effect is dominant. The measurement error change trend of the FBG sensor with fully-adhered fixation is similar to that with double-ended fixation. The adhesive layer can reduce the two effects and measurement error. The fully-adhered fixation has lower error, however, it is easily affected by substrate strain. Due to its linear error and strain-resistant characteristics, the single-ended fixation will play an important role in the FBG sensor

  12. The Return of Congenital Rickets, Are We Missing Occult Cases?

    PubMed

    Elidrissy, Abdelwahab T H

    2016-09-01

    Congenital rickets is the term given to fetus born with clinical features of rickets, but those born with biochemical evidence of rickets without obvious clinical features still can be considered occult congenital rickets. Some of the affected babies with this disease have the intrauterine rachitic environment, but a calcium trans-placental pump prevents the fetus from having clinical features of rickets. They may present with hypocalcemia few days after birth or later with more florid features of rickets. Congenital rickets cases born with florid features reported over the last 40 years are few and can be divided into two groups. The first due to severe maternal osteomalacia in which their bones were so decalcified to have enough calcium to be pumped to their fetus. Another group in which newborn babies were hypocalcemic due to other maternal diseases as malabsorption, celiac disease, pre-eclampsia, and prematurity. All inherited rickets cases per se, or as part of other syndromes can be considered congenital rickets. Most cases seen in our region are due to maternal vitamin D deficiency with symptoms becoming obvious when the infants are breastfed, or may present with hypocalcemic convulsions or craniotabes. This is a review of congenital rickets with the aim of shedding light on this potentially acute disease that needs more attention and awareness in the neonatal period to avoid rare serious complications as cardiomyopathy or myelofibrosis and the complications of hypocalcemic convulsions. Congenital rickets cases seen simulate a tip of an ice-burg and its prevention is an important issue, especially with the tremendous urbanization with tall buildings living in sun-deprived flats as the commonest type of residence leading to the increasing incidence of maternal osteomalacia and rickets. PMID:27245342

  13. The Return of Congenital Rickets, Are We Missing Occult Cases?

    PubMed

    Elidrissy, Abdelwahab T H

    2016-09-01

    Congenital rickets is the term given to fetus born with clinical features of rickets, but those born with biochemical evidence of rickets without obvious clinical features still can be considered occult congenital rickets. Some of the affected babies with this disease have the intrauterine rachitic environment, but a calcium trans-placental pump prevents the fetus from having clinical features of rickets. They may present with hypocalcemia few days after birth or later with more florid features of rickets. Congenital rickets cases born with florid features reported over the last 40 years are few and can be divided into two groups. The first due to severe maternal osteomalacia in which their bones were so decalcified to have enough calcium to be pumped to their fetus. Another group in which newborn babies were hypocalcemic due to other maternal diseases as malabsorption, celiac disease, pre-eclampsia, and prematurity. All inherited rickets cases per se, or as part of other syndromes can be considered congenital rickets. Most cases seen in our region are due to maternal vitamin D deficiency with symptoms becoming obvious when the infants are breastfed, or may present with hypocalcemic convulsions or craniotabes. This is a review of congenital rickets with the aim of shedding light on this potentially acute disease that needs more attention and awareness in the neonatal period to avoid rare serious complications as cardiomyopathy or myelofibrosis and the complications of hypocalcemic convulsions. Congenital rickets cases seen simulate a tip of an ice-burg and its prevention is an important issue, especially with the tremendous urbanization with tall buildings living in sun-deprived flats as the commonest type of residence leading to the increasing incidence of maternal osteomalacia and rickets.

  14. Congenital Paraesophageal Hernia in a Cat.

    PubMed

    Tong, Kim; Guillou, Reunan; Vét, Doc

    2015-01-01

    A 3 mo old male domestic shorthair weighing 2 kg was presented for acute onset of anorexia, lethargy, paradoxical breathing, and a palpable mass effect in the cranial abdomen. Initial diagnostics and imaging suggested a pleuroperitoneal or hiatal hernia. Emergency abdominal exploration was performed, and a complex type II paraesophageal hiatal hernia was identified. The entire stomach, greater and lesser omenta, spleen, left limb of the pancreas, and the proximal segment of the descending duodenum were herniated through a discrete defect in the phrenicoesophageal ligament. After reduction of the herniated organs back into the abdomen, a phrenicoplasty, esophagopexy, and left-sided fundic gastropexy were performed. The cat recovered uneventfully from the procedure and was free of any signs of disease for at least 30 mo postoperatively. This is the first detailed report of the findings and successful surgical treatment of a complex congenital, type II paraesophageal hiatal hernia with complete herniation of the stomach, omenta, and spleen in a cat.

  15. Congenital Chagas disease: an update

    PubMed Central

    Carlier, Yves; Sosa-Estani, Sergio; Luquetti, Alejandro O; Buekens, Pierre

    2015-01-01

    Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi. PMID:25760448

  16. Angiocardiography in congenital heart malformations

    SciTech Connect

    Soto, B.; Pacifico, A.D.

    1990-01-01

    The contents of this book are well organized, it deals with the technique of angiocardiography, and describes the angiocardiographic anatomy of the normal heart and offers an excellent sequential analysis of cardiac morphology. The rest of the book describes the angiocardiographic findings observed in individual congenital cardiac disorders.

  17. Congenital thrombophilia associated to obstetric complications.

    PubMed

    Villarreal, Cynthia; García-Aguirre, Gerardo; Hernández, Carmen; Vega, Olynka; Borbolla, José R; Collados, María T

    2002-10-01

    During pregnancy there are hemostatic changes that result in a hypercoagulable state and can have thrombotic consequences. This condition can be aggravated in women who are carriers of congenital thrombophilic factors. This thrombotic tendency can manifest as thrombotic lesions in the placenta with compromise of utero-placental circulation, which are common characteristics present in obstetric complications, such as preeclampsia/eclampsia, miscarriage, fetal loss, intrauterine growth retardation, and abruptio placentae. In this paper we review data concerning about the association of congenital thrombophilia in pregnancy with obstetric complications, mainly preeclampsia and fetal loss, focusing in factor V Leiden and its related activated protein C resistance, prothrombin mutation G20210A and hyperhomocysteinemia related with C677T mutation of methylenetetrahydrofolate reductase. Although factor V Leiden has been the thrombophilic factor most studied, all three thrombophilic mutations have been related with obstetric complications; however, contradictory results about the specific association of each mutation with each type of obstetric complication are described. These discrepancies could obey to the ethnic difference of the studied groups, or to the fact that some studies were performed in closed populations with few migratory movement, where the genetic pool is relatively homogeneous, as well as the different inclusion and exclusion criteria. Even though this variability is present, the significance of recognizing true associations between these thrombophilic mutations and obstetric complications is essential in order to determine the likelihood of routinely screening for these conditions in pregnant women with risk factors for thrombosis and for carrying out specific prophylactic measures.

  18. Congenital anomalies in the baboon (Papio spp.)

    PubMed Central

    Fox, Benjamin; Owston, Michael A.; Kumar, Shyamesh; Dick, Edward J.

    2011-01-01

    Background A comprehensive survey of the prevalence of congenital anomalies in baboons has not been previously reported. We report the congenital anomalies observed over a 26-year period in a large captive baboon colony. Methods A computer search was performed for all baboon congenital anomalies identified at necropsy and recorded on necropsy submissions. Results We identified 198 congenital anomalies in 166 baboons from 9,972 necropsies (1.66% of total necropsies). The nervous, urogenital, musculoskeletal, and cardiovascular systems were most commonly affected. The most common organs affected were the brain, bone, heart, testicle, kidney, penis, aorta, and skeletal muscle. The most frequent congenital anomalies were blindness, seizures, and hydrocephalus. Conclusions The baboon has an overall frequency of congenital anomalies similar to humans and other nonhuman primates. Although the most frequently affected systems are similar, congenital anomalies involving the digestive system appear to be less common in the baboon. PMID:21332757

  19. Congenital Heart Defects

    MedlinePlus

    ... Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health. NIH: National Heart, Lung, and Blood Institute

  20. Coping with Congenital Hand Differences

    PubMed Central

    Franzblau, Lauren E.; Chung, Kevin C.; Carlozzi, Noelle; Chin, Autumn Y. T.; Nellans, Kate W.; Waljee, Jennifer F.

    2015-01-01

    Purpose Although functional outcomes following reconstruction for congenital hand differences are frequently described, much less is known regarding children’s ability to cope with psychosocial effects of these conditions. We qualitatively explored stress and coping mechanisms among children following reconstructive surgery for congenital hand differences. Methods Forty patients and their parents participated in semi-structured interviews examining stress related to hand functioning and appearance, emotional responses to stress, and coping strategies. Interviews were audio-taped, transcribed, and analyzed thematically. A consensus taxonomy for classifying content evolved from comparisons of coding by two reviewers. Themes expressed by participants were studied for patterns of connection and grouped into broader categories. Results In this sample, 58% of children and 40% of parents reported stress related to congenital hand differences, attributed to functional deficits (61%), hand appearance (27%), social interactions (58%), and emotional reactions (46%). Among the 18 children who reported stress, 43% of parents were not aware of the presence of stress. Eight coping strategies emerged, including humor (12%), self-acceptance (21%), avoidance (27%), seeking external support (30%), concealment (30%), educating others (9%), support programs (21%) and religion (24%). Conclusions Although children with congenital hand differences often experience emotional stress related to functional limitations and aesthetic deformities, many apply positive coping mechanisms that enhance self-esteem and self-esteem. Clinicians caring for children with congenital hand differences should inform families about potential sources of stress in order to direct resources toward strengthening coping strategies and support systems. Level of Evidence Level IV-Case series PMID:25502854