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Sample records for congenital fiber type

  1. Congenital fiber type disproportion.

    PubMed

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. PMID:26526626

  2. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

    PubMed

    Clarke, Nigel F; Waddell, Leigh B; Cooper, Sandra T; Perry, Margaret; Smith, Robert L L; Kornberg, Andrew J; Muntoni, Francesco; Lillis, Suzanne; Straub, Volker; Bushby, Kate; Guglieri, Michela; King, Mary D; Farrell, Michael A; Marty, Isabelle; Lunardi, Joel; Monnier, Nicole; North, Kathryn N

    2010-07-01

    The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate whether mutations in RYR1 are a cause of CFTD we sequenced RYR1 in seven CFTD families in whom the other known causes of CFTD had been excluded. We identified compound heterozygous changes in the RYR1 gene in four families (five patients), consistent with autosomal recessive inheritance. Three out of five patients had ophthalmoplegia, which may be the most specific clinical indication of mutations in RYR1. Type 1 fibers were at least 50% smaller, on average, than type 2 fibers in all biopsies. Recessive mutations in RYR1 are a relatively common cause of CFTD and can be associated with extreme fiber size disproportion. PMID:20583297

  3. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

    PubMed Central

    Lawlor, Michael W.; DeChene, Elizabeth T.; Roumm, Emily; Geggel, Amelia S.; Moghadaszadeh, Behzad; Beggs, Alan H

    2009-01-01

    Congenital fiber type disproportion (CFTD) is a rare congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings. Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases. The muscle tropomyosin 3 gene, TPM3, is mutated in rare cases of nemaline myopathy that typically exhibit type 1 fiber hypotrophy with nemaline rods, and recently mutations in the TPM3 gene were also found to cause CFTD. We screened the TPM3 gene in patients with a clinical diagnosis of CFTD, nemaline myopathy, and with undefined congenital myopathies. Mutations in TPM3 were identified in 6 out of 13 patients with CFTD, as well as in one case of nemaline myopathy. Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance. Several mutation-negative cases exhibited other abnormalities, such as central nuclei and central cores. These results support the utility of the CFTD diagnosis in directing the course of genetic testing. PMID:19953533

  4. A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies.

    PubMed

    Kimura, Shigemi; Ozasa, Shiro; Nomura, Keiko; Kosuge, Hirofumi; Yoshioka, Kowasi

    2013-01-01

    Congenital fiber type disproportion (CFTD) is a form of congenital myopathy, which is defined by type 1 myofibers that are 12% smaller than type 2 myofibers, as well as a general predominance of type 1 myofibers. Conversely, myasthenia gravis (MG) is an acquired immune-mediated disease, in which the acetylcholine receptor (AChR) of the neuromuscular junction is blocked by antibodies. Thus, the anti-AChR antibody is nearly specific to MG. Herein, we report on a case of CFTD with increased anti-AChR antibody levels. A 23-month-old boy exhibited muscle hypotonia and weakness. Although he could walk by himself, he easily fell down and could not control his head for a long time. His blood test was positive for the anti-AChR antibody, while a muscle biopsy revealed characteristics of CFTD. We could not explain the relationship between MG and CFTD. However, we considered different diagnoses aside from MG, even when the patient's blood is positive for the anti-AChR antibody. PMID:23762716

  5. 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

  6. 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 ...

  7. 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 ...

  8. 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

  9. 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…

  10. 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

  11. 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 ...

  12. Bilateral agenesis of arcuate fasciculus demonstrated by fiber tractography in congenital bilateral perisylvian syndrome.

    PubMed

    Kilinc, Ozden; Ekinci, Gazanfer; Demirkol, Ezgi; Agan, Kadriye

    2015-03-01

    Congenital bilateral perisylvian syndrome (CBPS) is a type of cortical developmental abnormality associated with distinctive clinical and imaging features. Clinical spectrum of this syndrome is quite heterogeneous, with different degrees of neurological impairment in affected individuals. High-definition magnetic resonance imaging (MRI) has a great importance in revealing the presence of CBPS, but is limited in elucidating the heterogeneous clinical spectrum. The arcuate fasciculus (AF) is a prominent language tract in the perisylvian region interconnecting Broca and Wernicke areas, and has a high probability of being affected developmentally in CBPS. Herein, we report a case of CBPS with investigation of AF using diffusion tensor imaging (DTI) and fiber tractography in relation to clinical findings. We postulated that proven absence of AF on DTI and fiber tractography would correlate with a severe phenotype of CBPS. PMID:24852949

  13. Contractile Properties of Single Permeabilized Muscle Fibers from Congenital Cleft Palates and Normal Palates of Spanish Goats

    PubMed Central

    Hanes, Michael C.; Weinzweig, Jeffrey; Kuzon, William M.; Panter, Kip E.; Buchman, Steven R.; Faulkner, John A.; Yu, Deborah; Cederna, Paul S.; Larkin, Lisa M.

    2009-01-01

    Background Analysis of the composition of muscle fibers constituent to a cleft palate could provide significant insight into the cause of velopharyngeal inadequacy. The authors hypothesized that levator veli palatini muscle dysfunction inherent to cleft palates could affect the timing and outcome of cleft palate repair. Methods Single, permeabilized muscle fibers from levator veli palatini muscles of three normal (n = 19 fibers) and three chemically induced congenital cleft palates (n = 21 fibers) of 14-month-old goats were isolated, and contractile properties were evaluated. The maximum isometric force and rate constants of tension redevelopment (ktr) were measured, and the specific force and normalized power were calculated for each fiber. Results The ktr measures indicate that cleft fibers are predominantly fast-fatigable; normal fibers are slow fatigue-resistant: after a 10-minute isometric contraction, fibers from cleft palates had a loss of force 16 percent greater than that from normal palates (p = 0.0001). The cross-sectional areas of the fibers from cleft palates (2750 ± 209 μm2) were greater (p = 0.05) than those from normal palates (2226 ± 143 μm2). Specific forces did not differ between the two groups. Maximum normalized power of fibers from cleft palates (11.05 ± 1.82 W/l) was greater (p = 0.0001) than fibers from normal palates (1.60 ± 0.12 W/l). Conclusions There are clear physiologic differences in single muscle fibers from cleft palates and normal palates: cleft palate fibers are physiologically fast, have greater fatigability, and have greater power production. Detection of functional and/or fiber type differences in muscles of cleft palates may provide preoperative identification of a patient's susceptibility to velopharyngeal inadequacy and permit early surgical intervention to correct this clinical condition. PMID:17440342

  14. The Effect of Cleft Palate Repair on Contractile Properties of Single Permeabilized Muscle Fibers From Congenitally Cleft Goat Palates

    PubMed Central

    Hanes, Michael C.; Weinzweig, Jeffrey; Panter, Kip E.; McClellan, W. Thomas; Caterson, Stefanie A.; Buchman, Steven R.; Faulkner, John A.; Yu, Deborah; Cederna, Paul S.; Larkin, Lisa M.

    2009-01-01

    Inherent differences in the levator veli palatini (LVP) muscle of cleft palates before palatoplasty may play a role in persistent postrepair velopharyngeal insufficiency (VPI). Contractile properties of LVP muscle fibers were analyzed from young (2-month) normal (YNP), young congenitally cleft (YCP) and again on the same YCP subjects 6 months after palatoplasty, mature repaired palate (MRP). The cross-sectional area and rate of force development (ktr) were measured. Specific force (sF0) and normalized power (nPmax) were calculated. Using ktr to determine fiber type composition, YNP was 44% type 1 and 56% type 2, while YCP was 100% type 2. Two MRP subjects shifted to 100% type 1; 1 demonstrated increased resistance to fatigue. No differences in sF0 were observed. nPmax increased with presence of type 2 fibers. The persistent state of type 2 fibers following palatoplasty leads to increased fatigue in the LVP of MRP subjects and may cause VPI symptoms. PMID:18216514

  15. 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.

  16. 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.

  17. 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

  18. Association of a congenital long QT syndrome type 1 with Takotsubo cardiomyopathy.

    PubMed

    El-Battrawy, Ibrahim; Behnes, Michael; Borggrefe, Martin; Akin, Ibrahim

    2016-08-01

    The occurrence of takotsubo cardiomyopathy in a patient with congenital long QT syndrome has rarely been described. This case report discusses the occurrence of a clinically overt takotsubo cardiomyopathy accompanied by congenital long QT syndrome type 1 in a female patient. PMID:27525086

  19. Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.

    PubMed

    Gurgel-Giannetti, Juliana; Reed, Umbertina C; Marie, Sueli K; Zanoteli, Edmar; Fireman, Moacir A T; Oliveira, Acary S B; Werneck, Lineu C; Beggs, Alan H; Zatz, Mayana; Vainzof, Mariz

    2003-03-01

    Nemaline myopathy is a structural congenital myopathy associated with the presence of rodlike structures inside the muscle fibers and type I predominance. It may be caused by mutations in at least five genes: slow alpha-tropomyosin 3 (chromosome 1q22-23), nebulin (chromosome 2q21.1-q22), actin (chromosome 1q42), tropomyosin 2 (chromosome 9p13), and troponin T1 (chromosome 19q13.4). The effect of these mutations in the expression of the protein and the mechanism of rod formation is still under investigation. We analyzed the possibility of progressive alterations with time and/or disease evolution, such as transformation of type I to type II fiber and rod pattern and distribution in muscle fibers from patients with nemaline myopathy, through a morphometric and immunohistochemical analysis of different muscle protein isoforms. A tendency of diffuse rods to be organized in the subsarcolemmal region was observed in two patients who were submitted to subsequent biopsies after 10 and 13 years. Additionally, we observed the expression of type II protein isoforms in type I fibers and a higher proportion of type II fibers in the younger patient of a pair of affected sibs, giving further support to the hypothesis of progressive conversion of type II to type I fibers in nemaline myopathy. PMID:12731651

  20. 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

  1. 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 ...

  2. Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.

    PubMed

    Akinci, Gulcin; Topaloglu, Haluk; Akinci, Baris; Onay, Huseyin; Karadeniz, Cem; Ergul, Yakup; Demir, Tevfik; Ozcan, Emin Evren; Altay, Canan; Atik, Tahir; Garg, Abhimanyu

    2016-06-01

    Congenital generalized lipodystrophy type 4 is an extremely rare autosomal recessive disorder. We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Further tests revealed ventricular and supraventricular arrhythmias, gastrointestinal dysmotility, atlantoaxial instability, lumbosacral scoliosis, and metabolic abnormalities associated with insulin resistance. A 16-year-old girl (patient-2) with congenital generalized lipodystrophy type 4 was previously reported. Here, we report on her long term clinical follow-up. She received several course of anti-arrhythmic treatments for catecholaminergic polymorphic ventricular tachycardia and rapid atrial fibrillation. An implantable cardioverter defibrillator was also placed. A homozygous PTRF mutation, c.259C > T (p.Gln87*), was identified in patient-1. Congenital generalized lipodystrophy type 4 was caused by homozygous PTRF c.481-482insGTGA (p.Lys161Serfs*41) mutation in patient-2. Our data indicate that patients with congenital generalized lipodystrophy type 4 should be meticulously evaluated for cardiac, neuromuscular, gastrointestinal and skeletal diseases, as well as metabolic abnormalities associated with insulin resistance. PMID:27167729

  3. Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha.

    PubMed

    Salihoglu, Ayse; Elverdi, Tugrul; Eskazan, Ahmet Emre; Eyice, Deniz; Bavunoglu, Isil; Ar, Muhlis Cem; Ongoren, Seniz; Guzel, Elif; Baslar, Zafer; Tunckale, Aydin; Tuzuner, Nukhet; Soysal, Teoman

    2016-06-01

    Congenital dyserythropoietic anemias are a rare group of inherited anemias characterized by ineffective erythropoiesis and distinct morphological abnormalities in the erythroblasts. Interferon alpha has been shown to be effective in type 1 congenital dyserythropoietic anemia but the optimal duration of therapy is undefined. We present here a 32-years-old female patient diagnosed with type 1 congenital dyserythropoietic anemia precipitated by pregnancy and treated successfully with a short course of interferon alpha resulting in a durable response. A literature search including PubMed database on previously published articles regarding congenital dyserythropoietic anemia type 1 patients treated with interferon is conducted. PMID:27408411

  4. 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...

  5. [The "candlestick" technique for the correction of certain types of congenital metacarpal synotosis].

    PubMed

    Foucher, G; Medina, J; Bollecker, V; Lorea, P

    2002-10-01

    Metacarpal synostosis is a rare congenital hand malformation requiring only occasionally a surgical correction. However in case of divergent epiphyses there is a progressive accentuation of the deformity. In the "Y" type of symmetrical synostosis, the authors propose a trapezoidal osteotomy with upside down relocation allowing realignement of the epiphyses without distant bone donor site. PMID:12491705

  6. Fiber optic chemical sensor constructed with different types of optical fiber

    NASA Astrophysics Data System (ADS)

    Hao, Tianyou; Xing, Xuekun; Liu, Chung-Chiun

    1992-03-01

    Optical fiber sensors have gained much attention in recent years. Optical fiber based chemical sensors often use a reaction chamber within which a chemical reaction involving the sensing species occurs. A color change may result from this chemical reaction and, with light passing through the reaction chamber, the light intensity can be modulated by this color change. Consequently, this change in light intensity can be used to quantify the sensing species present. In most of these chemical sensors, either one or two optical fibers will be used. If a single fiber is used, the signal derived from the chemical reaction is relatively weak. On the other hand, if either one or two optical fibers are used, a mirror-finished surface is usually required for the reflection of light to the detector. In this research, optical fiber sensors are constructed using two different types of fibers. One is a quartz fiber and the other is a plastic fiber. The plastic fiber is more flexible and can be bent or connected with a slant surface at the top of the fiber at 45 degree(s). Two types of sensors were constructed--a temperature sensor employing a thermochromic solution and a pH sensor using a pH sensitive dye. By using the two types of fiber, a mirror-finished surface is no longer necessary. The weak signal due to the use of a single fiber is also minimized.

  7. 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

  8. 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

  9. 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. PMID:27043388

  10. 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

  11. 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...

  12. Is Toxoplasma gondii type related to clinical outcome in human congenital infection? Systematic and critical review.

    PubMed

    Rico-Torres, C P; Vargas-Villavicencio, J A; Correa, D

    2016-07-01

    In human congenital toxoplasmosis the effects of parasite burden and pregnancy time at infection on clinical outcome are well known, but there is controversy regarding the role of Toxoplasma gondii type. Through a systematic review of the literature, we aimed to discern if T. gondii type has a role on clinical outcome in human congenital toxoplasmosis. We built up a database of congenital toxoplasmosis from reports of cases, case series and screening-based cohorts, which had information about parasite type, gestation time at maternal infection and/or clinical outcome in the product. Then, we obtained frequencies for loci used to genotype geographical origin of cases and types found. Also, odds ratios were calculated for association between time of maternal infection or parasite type on outcome. Type II parasites were the most common in Europe, Asia and Africa, while in America there were mainly atypical strains. More newborns with clinical problems were born from mothers infected during the first half of gestation than from those acquiring the parasite after week 24, regardless of parasite genotype (92.9 vs. 16.1 %, OR = 67.9, CI95 25.4-181.6). Type I and atypical parasites were associated with clinical problems as opposed to types II and III, regardless of pregnancy period at infection (86.9 vs. 72.9 %, OR = 2.47, CI95 1.1-5.4). A significant and remarkable tendency of type I parasites to be present during early pregnancy was also observed (94.4 vs. 5.6 %, P < 0.009). In addition to parasite burden and period of gestation, T. gondii genotype seems involved in CT clinical outcome. PMID:27146878

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

    NASA Astrophysics Data System (ADS)

    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

    2015-11-01

    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.

  14. 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

  15. 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. PMID:23152195

  16. Special-purpose fiber type 475--toxicological assessment.

    PubMed

    Bernstein, D M

    2007-02-01

    Type 475 special-purpose glass fiber is rather unique among the family of synthetic mineral fibers. It is used not for insulation but for "high-end" filtration products designed for high and ultra-high purity filtration of air and liquids. The designation for these types of filters varies with country and includes HEPA, ULPA, EU 10-13, EN1822, and S3. In its evaluation, type 475 has been grouped together with E-glass another special-purpose fibre often with little distinction made in terms of its chemistry and corresponding toxicological response. The detailed review of the available toxicology data on type 475 glass fibers clearly shows that following inhalation of this fiber even at relatively high doses, which likely exceed that at which lung overload in the rat is known to occur, type 475 glass fibers are not fibrogenic and do not cause tumors. These data clearly show an important differentiation in potency between type 475 glass fibers and E-glass and support treating these two types of fibers independently and not equating them though the term "special-purpose fibers." Analysis of the intraperitoneal studies taking into account fibre dimensions shows that at 109 fibers injected, there was a 0.3 tumor incidence. While these studies indicate according to the European Commission (EC) classification criteria that 475 should not be fully exonerated as a carcinogen, the results of the inhalation study fully support classification in category 3. The IP results are more difficult to interpret, however, the IP study itself provides no toxicological basis for determining what range of dose-response should correspond to EU category 3 or 2. Following the EC classification criteria, the toxicological data clearly indicate that 475 fibers are appropriately classified in EC category 3. PMID:17169862

  17. Muscle fiber type diversification during exercise and regeneration.

    PubMed

    Qaisar, Rizwan; Bhaskaran, Shylesh; Van Remmen, Holly

    2016-09-01

    The plasticity of skeletal muscle can be traced down to extensive metabolic, structural and molecular remodeling at the single fiber level. Skeletal muscle is comprised of different fiber types that are the basis of muscle plasticity in response to various functional demands. Resistance and endurance exercises are two external stimuli that differ in their duration and intensity of contraction and elicit markedly different responses in muscles adaptation. Further, eccentric contractions that are associated with exercise-induced injuries, elicit varied muscle adaptation and regenerative responses. Most adaptive changes are fiber type-specific and are highly influenced by diverse structural, metabolic and functional characteristics of individual fiber types. Regulation of signaling pathways by reactive oxygen species (ROS) and oxidative stress also plays an important role in muscle fiber adaptation during exercise. This review focuses on cellular and molecular responses that regulate the adaptation of skeletal muscle to exercise and exercise-related injuries. PMID:27032709

  18. Congenital toxoplasmosis in wild boar (Sus scrofa) and identification of the Toxoplasma gondii types involved.

    PubMed

    Calero-Bernal, Rafael; Gómez-Gordo, Luis; Saugar, José María; Frontera, Eva; Pérez-Martín, Juan Enrique; Reina, David; Serrano, Francisco Javier; Fuentes, Isabel

    2013-10-01

    Congenital toxoplasmosis has been little described in wild animals. We report a case of vertical transmission in wild boar (Sus scrofa). Necropsy and histopathologic examination of a pregnant female and her three fetuses revealed all to have lesions compatible with acute toxoplasmosis. Nested polymerase chain reaction B1 gene detected Toxoplasma gondii in maternal (heart and diaphragm) and fetal (central nervous system, retina, optic nerve, heart, lung, tongue, and diaphragm) samples. The mother had a mixed infection of T. gondii types I and III. One fetus with type III infection developed no malformations, but the others-one with type I infection and one infected by types I and III-showed bilateral ocular agenesis, prognathism, and agenesis of the nasal cartilage. These results suggest the pathogenicity of the various T. gondii types may differ in wild boars. PMID:24502733

  19. 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

  20. Congenital dyserythropoietic anemia type II associated with G6PD Seattle in a Sicilian child.

    PubMed

    Gangarossa, S; Romano, V; Miraglia del Giudice, E; Perrotta, S; Iolascon, A; Schiliro, G

    1995-01-01

    A 2-year-old Sicilian boy was investigated because of chronic nonspherocytic hemolytic anemia (CNSHA) associated with hepatosplenomegaly. Appropriate studies revealed deficiency of glucose-6-phosphate dehydrogenase type Seattle (G6PD Seattle). In addition, bone marrow morphology, serological studies and analysis of red cell membrane proteins revealed congenital dyserythropoietic anemia (CDA) type II (or HEMPAS). Because G6PD Seattle on its own does not cause CNSHA, we believe that the clinical manifestations in this patient are essentially due to the CDA type II abnormality. However, the coexistence of these two different red cell abnormalities may affect the clinical picture specifically by making CDA type II more hemolytic than it would have been otherwise. PMID:7725848

  1. Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.

    PubMed

    Castori, M; Morlino, S; Sana, M E; Paradisi, M; Tadini, G; Angioni, A; Malacarne, M; Grammatico, P; Iascone, M; Forzano, F

    2016-08-01

    Palmoplantar keratoderma-congenital alopecia (PPKCA) syndrome is a rare genodermatosis, with two clinically recognizable forms: dominant (Type 1) and recessive (Type 2). Reports of only 18 patients have been published to date, and the molecular basis of the condition is unknown. We describe two cases with PPKCA Type 2 (PPKCA2), comprising a novel patient, originally reported as an example of autosomal ichthyosis follicularis-atrichia-photophobia syndrome, and the 6-year follow-up of a previously published case. Extensive molecular studies of both patients excluded mutations in all the known genes associated with PPK and partially overlapping syndromes. The striking similarities between these two patients confirm PPKCA2 as a discrete genodermatosis, of which the main features are congenital and universal alopecia, diffuse keratosis pilaris, facial erythema, and a specific PPK with predominant involvement of the fingertips and borders of the hands and feet, with evolution of sclerodactyly, contractures and constrictions. Clinical follow-up of these patients has demonstrated progressive worsening of the hand involvement and attenuation of facial erythema. PMID:27339777

  2. 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

  3. Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.

    PubMed

    Coman, D; McGill, J; MacDonald, R; Morris, D; Klingberg, S; Jaeken, J; Appleton, D

    2007-07-01

    We report 3 siblings (1 male and 2 female) recently diagnosed with congenital disorder of glycosylation type Ia (CDG-Ia) in their mid-20s. They experience mild mental retardation but manage to function independently in society. Their professions are library assistant, professional artistic painter and secretarial work. All three siblings have cerebellar hypoplasia and ataxia, but are able to ambulate easily. Two of the siblings have required strabismus surgical repairs. All have antithrombin III deficiency, osteoporosis, and mild dysmorphic features. Hypergonadotrophic hypogonadism was a feature of the two female siblings. A type 1 sialotransferrin pattern and phosphomannomutase (PMM) deficiency have been demonstrated. They are compound heterozygotes for R141H and L32R mutations in the PMM2 gene. While there is clinical heterogeneity in CDG-Ia, we believe that our patients are among the mildest of intellectually affected CDG-Ia patients reported to date. PMID:17451957

  4. 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

  5. FGF10 Signaling differences between type I pleuropulmonary blastoma and congenital cystic adenomatoid malformation

    PubMed Central

    2013-01-01

    Background Type I pleuropulmonary blastoma (PPB) and congenital cystic adenomatoid malformation of the lung (CCAM) are cystic lung diseases of childhood. Their clinical and radiological presentations are often similar, and pathologic discrimination remains difficult in many cases. As a consequence, type I PPB and CCAM are frequently confused, leading to delayed adequate management for type I PPB. Recent studies have suggested a role for fibroblast growth factor (FGF) 10 signal pathway in CCAM pathogenesis. The objective of our study was to determine whether FGF10 signaling differs between CCAM and type I PPB. Methods Immunohistochemical studies were performed for expression of FGF10, its receptor FGFR2b, and its inhibitor sonic hedgehog (SHH) in focal type I PPB (n=6), CCAM type I (n=7), CCAM type II (n=7), and control lungs (n=5). Results FGF10, FGFR2b, and SHH expressions differed markedly between type I PPB and both types of CCAM. Type I and type II CCAM cystic walls expressed FGF10, FGFR2b, and SHH, whereas staining was absent or poor in type I PBB cystic walls. Expression of FGF10, FGFR2b, and SHH did not differ between CCAM cystic walls and control airway walls. Conclusions These findings show that immunohistochemistry with FGF10, FGFR2b, or SHH could be useful in differentiating CCAM from type I PPB, when a child presents with a focal cystic lung lesion. The absence of strong expression of FGF10, FGFR2b, and/or SHH makes the diagnosis of CCAM very doubtful. PMID:24004862

  6. Fiber intake and inflammation in type 1 diabetes

    PubMed Central

    2014-01-01

    Background Higher intake of dietary fiber is associated with lower risk of coronary heart disease, the leading cause of mortality among people with type 1 diabetes. The protective effect includes the anti-inflammatory properties of some foods. Population-based studies have shown an inverse association between some nutritional habits and high sensitive -C-reactive protein (hs-CRP). This study aimed to ascertain the association between fiber intake and hs-CPR levels in patients with type 1 diabetes. Methods This cross-sectional study was conducted with 106 outpatients with type 1 diabetes; age 40 ± 11 years; diabetes duration of 18 ± 8.8 years. Dietary intake was evaluated by 3-day weighed-diet records. Patients were categorized in 2 groups, according to fiber intake (>20 g/day and <20 g/day). Results The group with fiber intake > 20 g/day had lower hs-CRP levels [median (25th-75th) 0.7 mg/dl (0.4-2.4) vs. 1.9 mg/dl (1.0-4.4); P = 0.002], than the other group. Controlled for HbA1c and energy intake, an inverse relation was observed between hs-CRP levels and total fiber [ß = − 0.030 (SE: 0.0120), P = 0.02], soluble fiber [ß = − 0.078 (SE: 0.0421), P = 0.06] and insoluble fiber [ß = − 0.039 (SE: 0.01761), P = 0.026]. Even, after additional adjustment fibers remained associated with lower hs-CRP levels. Total fibers were stratified in 4 groups: < 10 g/day, from 10 to < 20 g/day, from 20 to 30 g/day and > 30 g/day. Compared to the group who ingested < 10 g/day of total fiber (referent group), the group who consumed > 30 g/d had significantly lower hs-CRP levels [−2.45 mg/L, P = 0.012] independent of the HbA1c values. Conclusions The present study suggests that an increased consumption of dietary fiber > 30 g/day may play a role in reducing inflammation in individuals with type 1 diabetes. PMID:25002911

  7. Congenital Anomalies in Infant with Congenital Hypothyroidism

    PubMed Central

    Razavi, Zahra; Yavarikia, Alireza; Torabian, Saadat

    2012-01-01

    Objective Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran. Methods The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinic of Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life. Results A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males) were recruited during the period between May 2006-2010. Overall, 30 (20%) infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1%) had congenital cardiac anomalies such as: ASD (n=3), VSD (n=2), PS (n =1), PDA (n=1). Three children (2.6%) had developmental dysplasia of the hip (n=3). Conclusion The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies. PMID:23074545

  8. Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.

    PubMed

    Bar-Yosef, Omer; Polak-Charcon, Sylvie; Hoffman, Chen; Feldman, Zeev P; Frydman, Moshe; Kuint, Jacob

    2008-12-01

    We describe a newborn infant with multiple congenital skull fractures and intracranial hemorrhage. He also had multiple skin folds suggesting a connective tissue abnormality. Electron microscopy of the skin biopsy showed collagen abnormalities with a "hieroglyphic appearance." The analysis of the synthesis of collagen in the cultured dermal fibroblasts demonstrated an accumulation of procollagen I. Molecular analysis found a nonsense mutation Q225X in ADAMTS2 gene, which encodes procollagen I N-terminal proteinase. All these findings confirmed the diagnosis of Ehlers-Danlos syndrome type VIIC (MIM 225410). Family studies suggested a founder effect in Ashkenazi Jews originating from Belarus. Prenatal diagnosis in the subsequent pregnancy reassured the parents that the fetus was an unaffected carrier. PMID:18973246

  9. Transcriptional regulatory circuits controlling muscle fiber type switching.

    PubMed

    Liu, Jing; Liang, XiJun; Gan, ZhenJi

    2015-04-01

    Skeletal muscle fitness plays vital roles in human health and disease and is determined by developmental as well as physiological inputs. These inputs control and coordinate muscle fiber programs, including capacity for fuel burning, mitochondrial ATP production, and contraction. Recent studies have demonstrated crucial roles for nuclear receptors and their co-activators, and microRNAs (miRNAs) in the regulation of skeletal muscle energy metabolism and fiber type determination. In this review, we present recent progress in the study of nuclear receptor signaling and miRNA networks in muscle fiber type switching. We also discuss the therapeutic potential of nuclear receptors and miRNAs in disease states that are associated with loss of muscle fitness. PMID:25794945

  10. Prenatal Androgens and Gender-Typed Behavior: A Study of Girls with Mild and Severe Forms of Congenital Adrenal Hyperplasia.

    ERIC Educational Resources Information Center

    Servin, Anna; Nordenstrom, Anna; Larsson, Agne; Bohlin, Gunilla

    2003-01-01

    Examined gender-typed behavior and interests in 2- to 10-year-old girls with congenital adrenal hyperplasia (CAH) and in unaffected girls matched for age. Found that, compared with unaffected girls, girls with CAH were more interested in masculine toys and less interested in feminine toys and were more likely to report having male playmates and…

  11. Investigation of fiber maturity effect on saw-type lint cleaner fiber damage and yarn properties

    Technology Transfer Automated Retrieval System (TEKTRAN)

    One-half of plots of two cotton cultivars with similar mature fiber length were harvested after two defoliation treatments (early/late) to get less and more mature cottons. These seed cotton lots were ginned with the same seed cotton cleaning but with 0, 1, or 3 saw-type lint cleaners with low dryi...

  12. 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

  13. Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy.

    PubMed Central

    Poulton, J; Harley, H G; Dasmahapatra, J; Brown, G K; Potter, C G; Sykes, B

    1995-01-01

    Neither the maternal inheritance pattern nor the early onset of congenital myotonic dystrophy are fully explained. One possible mechanism is that mitochondrial DNA (mtDNA) mutations might interact with the DM gene product, producing an earlier onset than would otherwise occur. We have used Southern hybridisation to show that high levels of major rearrangements of mtDNA are not present in muscle of five and in blood of 35 patients with congenital myotonic dystrophy. We used sequence analysis to show that no one particular mtDNA morph appears to cosegregate with congenital onset. A minor degree of depletion of mtDNA compared with nuclear DNA was present in the muscle of five patients with congenital DM, but we propose that this is not the primary cause of the muscle pathology but secondary to it. We have not found evidence that mtDNA is involved in congenital myotonic dystrophy. PMID:8544195

  14. Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan

    PubMed Central

    2011-01-01

    Fukuyama-type congenital muscular dystrophy (FCMD) is a severe form of muscular dystrophy accompanied by abnormalities in the eye and brain. The incidence of FCMD is particularly high in the Japanese population. Mutations in the fukutin gene have been identified in patients with FCMD. Fukutin is predicted to be a Golgi apparatus resident protein and to be involved in the post-translational modification of cell-surface proteins. Recently, progress has been made in our understanding of the molecular mechanisms by which the mutation of fukutin leads to the phenotype of FCMD. Loss of function of fukutin results in defective glycosylation of α-dystroglycan, a central component of the dystrophin-glycoprotein complex, leading to disruption of the linkage between basal lamina and cytoskeleton. This disruption is implicated in the pathogenesis of both the MD and brain anomalies in FCMD. Furthermore, genetic analyses have revealed that the spectrum of the FCMD phenotype is much wider than originally thought. In this review, we summarize the diverging clinical phenotype of FCMD and its molecular pathomechanisms.

  15. Acute Liver Failure in a Pediatric Patient with Congenital Dysery-Thropoietic Anemia Type I Treated with Deferasirox.

    PubMed

    Ling, Galina; Pinsk, Vered; Golan-Tripto, Inbal; Ling, Eduard

    2015-09-23

    Congenital dyserythropoietic anemias (CDA) represent a heterogeneous group of disorders characterized by morphological abnormalities of erythroid precursor cells and various degrees of hemolysis. Iron overload is a result of continuous hemolysis and recurrent transfusions. It is treated with iron chelators, including deferasirox. We present here a case of acute liver failure in a 12 years old girl with CDA type I treated with deferasirox and discuss the approach to treatment. PMID:26487935

  16. 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

  17. 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.

  18. 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

  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. Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.

    PubMed

    Srivastava, Tarak; Garola, Robert E; Kestila, Marjo; Tryggvason, Karl; Ruotsalainen, Vesa; Sharma, Mukut; Savin, Virginia J; Jalanko, Hannu; Warady, Bradley A

    2006-05-01

    We report a Caucasian boy of Italian descent with congenital nephrotic syndrome of the Finnish type (NPHS1, CNF, MIM 256300) who developed recurrence of proteinuria and hypoalbuminemia on the seventh post-operative day following living related renal transplantation from his paternal aunt. The allograft biopsy was normal except for effacement of podocyte foot processes on electron microscopy. He was treated by the substitution of mycophenolate mofetil with cyclophosphamide for 12 weeks, in addition to cyclosporine, prednisone and daclizumab. His proteinuria resolved quickly following the initiation of cyclophosphamide treatment, and he remains in remission 4 years after receiving his transplant. His native and allograft kidneys were evaluated for nephrin expression by immunohistochemistry, DNA analysis for the NPHS1 mutation, serum for the presence of auto-antibodies to nephrin by both enzyme-linked immunosorbent assay (ELISA) and fetal glomeruli immunofluorescence assay, and serum for glomerular permeability to albumin (Palb) activity using a functional in vitro assay for Palb. Nephrin expression was completely absent in the native kidney, while it was decreased in the allograft compared with normal. DNA analysis of the NPHS1 gene revealed mutations 3248G>T and 3250delG in exon 24, causing G1083V and 1084Vfs, respectively, inherited from his father, and 3478C>T in exon 27, that leads to R1160X, inherited from his mother. Serum was negative for auto-antibodies to nephrin. Interestingly, the Palb activity was increased at the time of recurrence of proteinuria following transplantation (Palb 0.73+/-0.10) and remained elevated when retested more than 3 years later (Palb 0.54+/-0.09). This is the first report of increased Palb activity in recurrence of proteinuria following transplantation in NPHS1. We speculate the role of increased Palb activity in the recurrence of proteinuria following transplantation in NPHS1. PMID:16518627

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

    PubMed

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

    2016-05-01

    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

  2. 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

  3. 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

  4. 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...

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

    PubMed Central

    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

  6. 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

  7. Effects of fiber type on force depression after active shortening in skeletal muscle.

    PubMed

    Joumaa, V; Power, G A; Hisey, B; Caicedo, A; Stutz, J; Herzog, W

    2015-07-16

    The aim of this study was to investigate force depression in Type I and Type II muscle fibers. Experiments were performed using skinned fibers from rabbit soleus and psoas muscles. Force depression was quantified after active fiber shortening from an average sarcomere length (SL) of 3.2µ m to an average SL of 2.6 µm at an absolute speed of 0.115f iber length/s and at a relative speed corresponding to 17% of the unloaded shortening velocity (V0) in each type of fibers. Force decay and mechanical work during shortening were also compared between fiber types. After mechanical testing, each fiber was subjected to myosin heavy chain (MHC) analysis in order to confirm its type (Type I expressing MHC I, and Type II expressing MHC IId). Type II fibers showed greater steady-state force depression after active shortening at a speed of 0.115 fiber length/s than Type I fibers (14.5±1.5% versus 7.8±1.7%). Moreover, at this absolute shortening speed, Type I fibers showed a significantly greater rate of force decay during shortening and produced less mechanical work than Type II fibers. When active shortening was performed at the same relative speed (17% V0), the difference in force depression between fiber types was abolished. These results suggest that no intrinsic differences were at the origin of the disparate force depressions observed in Type I and Type II fibers when actively shortened at the same absolute speed, but rather their distinct force-velocity relationships. PMID:26091619

  8. 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

  9. 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. PMID:26704658

  10. 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 ...

  11. 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

  12. Congenital Absence of Internal Carotid Artery with Rare Type of Intercavernous Anastamosis and Ruptured Cerebral Aneurysm

    PubMed Central

    Alurkar, Anand; Oak, Sagar; Kori, Smita

    2016-01-01

    Congenital absence of Internal Carotid Artery (ICA) is a rare anomaly seen in <0.01% of the population. Various collateral circulations develop in these cases to maintain adequate cerebral perfusion. High incidence of aneurysms is reported in these cases. Complete evaluation is required to detect other abnormalities usually seen in these patients. We report a case of congenital absence of right ICA in a 39-year-old female who presented with Subarachnoid Haemorrhage (SAH) and had a Middle Cerebral Artery Aneurysm (MCA). The right MCA got supply from the intercavernous communication from the left internal carotid artery. Skull base Computed Tomogram (CT) confirmed the congenital absence of right ICA. She underwent successful surgical clipping for the aneurysm. The high incidence of aneurysms, collateral circulations, embryological development and postulated mechanisms of this anomaly were discussed. The exact aetiology behind the absence of ICA remains unclear. It is important to differentiate this condition from acquired stenosis/occlusion due to atherosclerosis and carotid dissection. Recognising the anomaly is important and gains even more significance during surgical planning in cases of direct aneurysm clipping, carotid endarterectomy and transphenoidal surgeries. PMID:27190916

  13. 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.

  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. 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. PMID:20814949

  16. Hepatopancreatoduodenectomy for local recurrence of cholangiocarcinoma after excision of a type IV-A congenital choledochal cyst: a case report.

    PubMed

    Yamada, Mihoko; Ebata, Tomoki; Sugawara, Gen; Igami, Tsuyoshi; Mizuno, Takashi; Shingu, Yuji; Nagino, Masato

    2016-12-01

    Surgical resection is the only curative treatment for biliary tract cancer (BTC); however, the recurrence rate remains high even after curative resection. There are limited data regarding the effectiveness of surgical resection for recurrent BTC. We report the favorable survival outcome of a patient who underwent a hepatopancreatoduodenectomy for local recurrence of cholangiocarcinoma after excision of a type IV-A congenital choledochal cyst. The patient, a 25-year-old woman, had undergone excision of a type IV-A congenital choledochal cyst with hepaticojejunostomy. The resected specimen revealed an early cholangiocarcinoma. The local recurrence at the site of anastomosis was detected 4 years and 4 months after surgery. We performed a left trisectionectomy with caudate lobectomy combined with hepatic artery and portal vein resections and a pancreaticoduodenectomy. Histological examination revealed a moderately differentiated adenocarcinoma, and the final diagnosis was recurrence of cholangiocarcinoma. There are a few reports of extensive resection for recurrence of BTC; however, aggressive surgery is possible and may offer favorable survival in selected patients. PMID:26943695

  17. Pulmonary vascular disease in different types of congenital heart disease. Implications for interpretation of lung biopsy findings in early childhood.

    PubMed Central

    Haworth, S G

    1984-01-01

    Pulmonary vascular structure was studied by analysing serial reconstructions of the arterial pathways and random sections of tissue in the lungs of 16 children who died with different types of congenital heart disease and pulmonary hypertension. Cases of ventricular septal defect showed an appreciable increase in muscularity of both preacinar and intra-acinar (respiratory unit) arteries, and intimal proliferation was infrequent and mild. By contrast, cases of transposition of the great arteries with ventricular septal defect and atrioventricular septal defect showed an increase in preacinar muscularity, a short heavily muscularised arterial segment containing intimal proliferation at the entrance to the acinus, whereas the intra-acinar arteries beyond showed only a moderate increase in muscularity. In these children who were less than 1 year of age an increase in pulmonary vascular resistance was due to strategically placed small areas of intimal proliferation and not to widespread obliterative pulmonary vascular disease. The study demonstrated and explained differences in the appearance of the peripheral pulmonary arteries in different types of congenital heart disease, which help interpret the findings of lung biopsies. Images PMID:6498033

  18. 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

  19. 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.

  20. 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.

  1. The effect of rocuronium and sugammadex on neuromuscular blockade in a child with congenital myotonic dystrophy type 1.

    PubMed

    Pickard, Amelia; Lobo, Clinton; Stoddart, Peter A

    2013-09-01

    Myotonic dystrophy type 1 (MD1) is the commonest muscular dystrophy found in adults; however, it may present in the neonatal period with hypotonia, talipes, poor feeding, and respiratory failure. Inheritance is autosomal dominant with a defect in the DMPK gene found on the long arm of chromosome 19 with variable expansion of the cytosine-thymine-guanine (CTG) triplet repeat. A 14-month-old boy with congenital MD type 1 was scheduled for percutaneous endoscopic gastrostomy (PEG) insertion, orchidopexy, and division of tongue-tie. Following induction of anesthesia, acceleromyography was used to monitor neuromuscular function. This revealed a very rapid onset of profound neuromuscular block which lasted significantly longer than would be expected in a child without MD1. Sugammadex reversed the block rapidly. The anesthetic management of children with MD1 has been well described but not the acceleromyographic monitored use of rocuronium and its subsequent reversal with the new cyclodextrin sugammadex. PMID:23763618

  2. 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…

  3. Severe congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure.

    PubMed

    Yeung, Wai L; Lam, Ching W; Fung, Lai W E; Hon, Kam L E; Ng, Pak C

    2009-01-01

    We report a severe case of congenital myasthenia gravis in a Chinese newborn who presented with complete ptosis, severe hypotonia, dysphagia and respiratory insufficiency with recurrent apnea that required mechanical ventilatory support since birth. Routine neurophysiologic studies, including the 3-Hz repetitive stimulation test and electromyogram were normal. Neostigmine and edrophonium tests were also negative. However, decremental response to 3-Hz stimulation became apparent after depleting the muscles with trains of 10-Hz stimuli for 10 min. The infant was subsequently confirmed to have heterozygous mutations in the choline acetyltransferase genes, p.T553N and p.S704P. Both missense mutations are novel mutations. The child remained on positive pressure ventilation at 3 years of age despite treatment with high-dose anticholinesterase. This case highlights the difficulty of making an early diagnosis based on clinical presentation and routine electrophysiologic tests, especially when neonatologists are not familiar with this condition. Further, as there are different genetic defects causing different types of congenital myasthenia gravis, anticholinesterase therapy may be beneficial to some but detrimental to others. Therefore, the exact molecular diagnosis is an important guide to therapy. A high index of suspicion coupled with extended electrodiagnostic tests in clinically suspected patients will ensure the selection of appropriate genetic molecular study for confirming the diagnosis. PMID:18797171

  4. Congenital Generalized Lipodystrophy, Type 4 (CGL4) Associated with Myopathy due to Novel PTRF Mutations

    PubMed Central

    Shastry, Savitha; Delgado, Mauricio R.; Dirik, Eray; Turkmen, Mehmet; Agarwal, Anil K.; Garg, Abhimanyu

    2010-01-01

    Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near total absence of body fat since birth with predisposition to insulin resistance, diabetes, hypertriglyceridemia and hepatic steatosis. Three CGL loci, AGPAT2, BSCL2 and CAV1 have been identified previously. Recently, mutations in polymerase I and transcript release factor (PTRF) were reported in five Japanese patients presenting with myopathy and CGL (CGL4). We report on novel PTRF mutations and detailed phenotype of two male and three female patients with CGL4 belonging to two pedigrees of Mexican origin (CGL7100 and CGL178) and one pedigree of Turkish origin (CGL180). All patients had near total loss of body fat and congenital myopathy manifesting as weakness, percussion-induced muscle mounding and high serum creatine kinase levels. Four of them had hypertriglyceridemia. Three of them had atlantoaxial instability. Two patients belonging to CGL178 pedigree required surgery for pyloric stenosis in the first month of life. None of them had prolonged QT interval on electrocardiography but both siblings belonging to CGL7100 had exercise-induced arrhythmias. Three of them had mild acanthosis nigricans but had normal glucose tolerance. Two of them had hepatic steatosis. All patients had novel null mutations in PTRF gene. In conclusion, mutations in PTRF result in a novel phenotype that includes generalized lipodystrophy with mild metabolic derangements, myopathy, cardiac arrhythmias, atlantoaxial instability and pyloric stenosis. It is unclear how mutations in PTRF, which plays an essential role in formation of caveolae, affect a wide variety of tissues resulting in a variable phenotype. PMID:20684003

  5. Quantitative PCR analysis of laryngeal muscle fiber types

    PubMed Central

    Van Daele, Douglas J.

    2013-01-01

    Voice and swallowing dysfunction as a result of recurrent laryngeal nerve paralysis can be improved with vocal fold injections or laryngeal framework surgery. However, denervation atrophy can cause late-term clinical failure. A major determinant of skeletal muscle physiology is myosin heavy chain (MyHC) expression, and previous protein analyses have shown changes in laryngeal muscle fiber MyHC isoform with denervation. RNA analyses in this setting have not been performed, and understanding RNA levels will allow interventions better designed to reverse processes such as denervation in the future. Total RNA was extracted from bilateral rat thyroarytenoid (TA), posterior cricoarytenoid (PCA), and cricothyroid (CT) muscles in rats. Primers were designed using published MyHC isoform sequences. SYBR Green real time reverse transcription-polymerase chain reaction (SYBR-RT-PCR) was used for quantification. The electropherogram showed a clear separation of total RNA to 28S and 18S subunits. Melting curves illustrated single peaks for all type MyHC primers. All MyHC isoforms were identified in all muscles with various degrees of expression. Quantitative PCR is a sensitive method to detect MyHC isoforms in laryngeal muscle. Isoform expression using mRNA analysis was similar to previous analyses but showed some important differences. This technique can be used to quantitatively assess response to interventions targeted to maintain muscle bulk after denervation. PMID:20430402

  6. 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.

  7. 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 ...

  8. Intrauterine growth-restricted sheep fetuses exhibit smaller hindlimb muscle fibers and lower proportions of insulin-sensitive Type I fibers near term.

    PubMed

    Yates, Dustin T; Cadaret, Caitlin N; Beede, Kristin A; Riley, Hannah E; Macko, Antoni R; Anderson, Miranda J; Camacho, Leticia E; Limesand, Sean W

    2016-06-01

    Intrauterine growth restriction (IUGR) reduces muscle mass and insulin sensitivity in offspring. Insulin sensitivity varies among muscle fiber types, with Type I fibers being most sensitive. Differences in fiber-type ratios are associated with insulin resistance in adults, and thus we hypothesized that near-term IUGR sheep fetuses exhibit reduced size and proportions of Type I fibers. Placental insufficiency-induced IUGR fetuses were ∼54% smaller (P < 0.05) than controls and exhibited hypoxemia and hypoglycemia, which contributed to 6.9-fold greater (P < 0.05) plasma norepinephrine and ∼53% lower (P < 0.05) plasma insulin concentrations. IUGR semitendinosus muscles contained less (P < 0.05) myosin heavy chain-I protein (MyHC-I) and proportionally fewer (P < 0.05) Type I and Type I/IIa fibers than controls, but MyHC-II protein concentrations, Type II fibers, and Type IIx fibers were not different. IUGR biceps femoris muscles exhibited similar albeit less dramatic differences in fiber type proportions. Type I and IIa fibers are more responsive to adrenergic and insulin regulation than Type IIx and may be more profoundly impaired by the high catecholamines and low insulin in our IUGR fetuses, leading to their proportional reduction. In both muscles, fibers of each type were uniformly smaller (P < 0.05) in IUGR fetuses than controls, which indicates that fiber hypertrophy is not dependent on type but rather on other factors such as myoblast differentiation or protein synthesis. Together, our findings show that IUGR fetal muscles develop smaller fibers and have proportionally fewer Type I fibers, which is indicative of developmental adaptations that may help explain the link between IUGR and adulthood insulin resistance. PMID:27053651

  9. Fast response in-line gas sensor using C-type fiber and Ge-doped ring defect photonic crystal fiber.

    PubMed

    Kassani, Sahar Hosseinzadeh; Park, Jiyoung; Jung, Yongmin; Kobelke, Jens; Oh, Kyunghwan

    2013-06-17

    An in-line chemical gas sensor was proposed and experimentally demonstrated using a new C-type fiber and a Ge-doped ring defect photonic crystal fiber (PCF). The C-type fiber segment served as a compact gas inlet/outlet directly spliced to PCF, which overcame previous limitations in packaging and dynamic responses. C-type fiber was prepared by optimizing drawing process for a silica tube with an open slot. Splicing conditions for SMF/C-type fiber and PCF/C-type fiber were experimentally established to provide an all-fiber sensor unit. To enhance the sensitivity and light coupling efficiency we used a special PCF with Ge-doped ring defect to further enhance the sensitivity and gas flow rate. Sensing capability of the proposed sensor was investigated experimentally by detecting acetylene absorption lines. PMID:23787597

  10. Thermal Deformation Analysis of Vibrated-Type Optical Fibers Sensors

    SciTech Connect

    Michtchenko, Alexandre; Tulaikova, Tamara

    2010-05-28

    In this paper we analyzed and calculated the deformation based on noon symmetrical temperature distributions in the cross section of optical fiber. Deformation distortion causes the micro vibrations of the optical fibers under periodical thermal excitation applied to one side of cylindrical surface. Calculations were made to optimize the exposure and to minimize energy, needed for realization of this class of sensors based on vibrations.

  11. Transcriptional regulation and alternative splicing cooperate in muscle fiber-type specification in flies and mammals

    PubMed Central

    Spletter, Maria L.; Schnorrer, Frank

    2014-01-01

    Muscles coordinate body movements throughout the animal kingdom. Each skeletal muscle is built of large, multi-nucleated cells, called myofibers, which are classified into several functionally distinct types. The typical fiber-type composition of each muscle arises during development, and in mammals is extensively adjusted in response to postnatal exercise. Understanding how functionally distinct muscle fiber-types arise is important for unraveling the molecular basis of diseases from cardiomyopathies to muscular dystrophies. In this review, we focus on recent advances in Drosophila and mammals in understanding how muscle fiber-type specification is controlled by the regulation of transcription and alternative splicing. We illustrate the cooperation of general myogenic transcription factors with muscle fiber-type specific transcriptional regulators as a basic principle for fiber-type specification, which is conserved from flies to mammals. We also examine how regulated alternative splicing of sarcomeric proteins in both flies and mammals can directly instruct the physiological and biophysical differences between fiber-types. Thus, research in Drosophila can provide important mechanistic insight into muscle fiber specification, which is relevant to homologous processes in mammals and to the pathology of muscle diseases. PMID:24145055

  12. 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

  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. 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...

  15. 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.

  16. [Dietary fibers: current trends and health benefits in the metabolic syndrome and type 2 diabetes].

    PubMed

    Mello, Vanessa D de; Laaksonen, David E

    2009-07-01

    Dietary fiber may contribute to both the prevention and treatment of type 2 diabetes mellitus (T2DM). In epidemiological studies the intake of insoluble fiber, but not the intake of soluble fiber, has been inversely associated with the incidence of T2DM. In contrast, in postprandial studies, meals containing sufficiently quantities of beta-glucan, psyllium, or guar gum have decreased insulin and glucose responses in both healthy individuals and patients with T2DM. Diets enriched sufficiently in soluble fiber may also improve overall glycemic control in T2DM. Insoluble fiber has little effect on postprandial insulin and glucose responses. Fiber increases satiety. In some studies, insoluble fiber has been associated with less weight gain over time. Limited cross-sectional evidence suggests an inverse relationship between intake of cereal fiber and whole-grains and the prevalence of the metabolic syndrome. Although long-term data from trials focusing on specifically dietary fiber are lacking, meeting current recommendations for a minimum fiber intake of 25 g/d based on a diet rich in whole grains, fruits and legumes will probably decrease the risk of obesity, the metabolic syndrome and T2DM. PMID:19768242

  17. 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.

  18. Aging, muscle fiber type, and contractile function in sprint-trained athletes.

    PubMed

    Korhonen, Marko T; Cristea, Alexander; Alén, Markku; Häkkinen, Keijo; Sipilä, Sarianna; Mero, Antti; Viitasalo, Jukka T; Larsson, Lars; Suominen, Harri

    2006-09-01

    Biopsy samples were taken from the vastus lateralis of 18- to 84-yr-old male sprinters (n = 91). Fiber-type distribution, cross-sectional area, and myosin heavy chain (MHC) isoform content were identified using ATPase histochemistry and SDS-PAGE. Specific tension and maximum shortening velocity (V(o)) were determined in 144 single skinned fibers from younger (18-33 yr, n = 8) and older (53-77 yr, n = 9) runners. Force-time characteristics of the knee extensors were determined by using isometric contraction. The cross-sectional area of type I fibers was unchanged with age, whereas that of type II fibers was reduced (P < 0.001). With age there was an increased MHC I (P < 0.01) and reduced MHC IIx isoform content (P < 0.05) but no differences in MHC IIa. Specific tension of type I and IIa MHC fibers did not differ between younger and older subjects. V(o) of fibers expressing type I MHC was lower (P < 0.05) in older than in younger subjects, but there was no difference in V(o) of type IIa MHC fibers. An aging-related decline of maximal isometric force (P < 0.001) and normalized rate of force development (P < 0.05) of knee extensors was observed. Normalized rate of force development was positively associated with MHC II (P < 0.05). The sprint-trained athletes experienced the typical aging-related reduction in the size of fast fibers, a shift toward a slower MHC isoform profile, and a lower V(o) of type I MHC fibers, which played a role in the decline in explosive force production. However, the muscle characteristics were preserved at a high level in the oldest runners, underlining the favorable impact of sprint exercise on aging muscle. PMID:16690791

  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. 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.

  1. The rural-urban effect on spatial genetic structure of type II Toxoplasma gondii strains involved in human congenital toxoplasmosis, France, 2002-2009.

    PubMed

    Ajzenberg, Daniel; Collinet, Frédéric; Aubert, Dominique; Villena, Isabelle; Dardé, Marie-Laure; Devillard, Sébastien

    2015-12-01

    Congenital toxoplasmosis involves Toxoplasma gondii type II strains in 95% of cases in France. We used spatial principal component analysis (sPCA) and 15 microsatellite markers to investigate the spatial genetic structure of type II strains involved in 240 cases of congenital toxoplasmosis in France from 2002 through 2009. Mailing addresses of patients were geo-referenced a posteriori in decimal degrees and categorized into urban or rural areas of residence. No spatial genetic structure was found for type II strains that infected mothers who were living in urban areas, but a global spatial genetic structure was found for those that infected mothers who were living in a rural environment. Our results suggest that sources of infection by T. gondii are different in rural and urban areas in France, and advocate for targeted messages in the prevention of toxoplasmosis according to the type of residence of susceptible people. PMID:26305624

  2. 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

  3. Atypical Spitz Tumor Arising on a Congenital Linear Plaque-Type Blue Nevus: A Case Report With a Review of the Literature on Plaque-Type Blue Nevus

    PubMed Central

    Guadagno, Antonio; Campisi, Caterina; Cabiddu, Francesco; Kutzner, Heinz; Parodi, Aurora; Fiocca, Roberto

    2015-01-01

    Abstract: The plaque-type blue nevus (PTBN) is a rare variant of blue nevus, of which only a few reports are described. A nodular growth within a preexistent PTBN should always alert to the possibility of malignant transformation. The authors report the first case of an atypical Spitz tumor arising on a congenital linear PTBN in a 60-year-old woman. The diagnosis of “atypical Spitz tumor” is here used to describe a microscopic “gray zone” in which it is not possible to differentiate with adequate certainty between a Spitz nevus and a spitzoid melanoma. This report adds to and summarizes the small body of literature describing PTBN and discusses diagnostic and clinical implications. PMID:25943242

  4. 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

  5. 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

  6. 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.

  7. Small- and Large-Fiber Neuropathy After 40 Years of Type 1 Diabetes

    PubMed Central

    Sveen, Kari Anne; Karimé, Bassam; Jørum, Ellen; Mellgren, Svein Ivar; Fagerland, Morten Wang; Monnier, Vincent M.; Dahl-Jørgensen, Knut; Hanssen, Kristian F.

    2013-01-01

    OBJECTIVE To study large- and small-nerve fiber function in type 1 diabetes of long duration and associations with HbA1c and the advanced glycation end products (AGEs) N-ε-(carboxymethyl)lysine (CML) and methylglyoxal-derived hydroimidazolone. RESEARCH DESIGN AND METHODS In a long-term follow-up study, 27 persons with type 1 diabetes of 40 ± 3 years duration underwent large-nerve fiber examinations, with nerve conduction studies at baseline and years 8, 17, and 27. Small-fiber functions were assessed by quantitative sensory thresholds (QST) and intraepidermal nerve fiber density (IENFD) at year 27. HbA1c was measured prospectively through 27 years. Serum CML was measured at year 17 by immunoassay. Serum hydroimidazolone was measured at year 27 with liquid chromatography–mass spectrometry. RESULTS Sixteen patients (59%) had large-fiber neuropathy. Twenty-two (81%) had small-fiber dysfunction by QST. Heat pain thresholds in the foot were associated with hydroimidazolone and HbA1c. IENFD was abnormal in 19 (70%) and significantly lower in diabetic patients than in age-matched control subjects (4.3 ± 2.3 vs. 11.2 ± 3.5 mm, P < 0.001). IENFD correlated negatively with HbA1c over 27 years (r = −0.4, P = 0.04) and CML (r = −0.5, P = 0.01). After adjustment for age, height, and BMI in a multiple linear regression model, CML was still independently associated with IENFD. CONCLUSIONS Small-fiber sensory neuropathy is a major manifestation in type 1 diabetes of 40 years duration and more prevalent than large-fiber neuropathy. HbA1c and the AGEs CML and hydroimidazolone are important risk factors in the development of large- and small-fiber dysfunction in long-term type 1 diabetes. PMID:24026557

  8. 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

  9. 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

  10. 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

  11. Numbers and types of asbestos fibers in subjects with pleural plaques.

    PubMed Central

    Warnock, M. L.; Prescott, B. T.; Kuwahara, T. J.

    1982-01-01

    The authors analyzed asbestos fibers in lung samples from 20 subjects with pleural plaques discovered on autopsy and compared the findings to their previous analyses of lungs from subjects with little or no asbestos exposure and no plaques. Sixteen of the subjects with plaques had a history of exposure to asbestos. The authors used electron-optical methods and energy-dispersive x-ray spectroscopy to investigate the structure, diffraction patterns, and chemical composition of the asbestos fibers. The subjects with plaques had significantly higher median concentrations than the control subjects for amosite and crocidolite fibers (P less than 0.01) but not for the other fiber types. Minimal microscopic asbestosis was present in the 3 subjects who had the highest amosite concentrations. In the subjects with typical plaques, a history of asbestos exposure, and more fibers than in the control population, the relation of the plaques to asbestos was confirmed; for others, it was uncertain. PMID:7124907

  12. Signal processing algorithm for transmission-type Fabry-Pérot interferometric optical fiber sensor

    NASA Astrophysics Data System (ADS)

    Kim, Sang-Hoon; Lee, Jung-Ju; Kwon, Dong-Soo

    2001-08-01

    The recently developed transmission-type extrinsic Fabry-Pérot interferometric (TEFPI) optical fiber sensor can simply and effectively compensate for the difficult distinction of the measured direction of conventional EFPI optical fiber sensors. The TEFPI optical fiber sensor signal is composed of fringes and signal level variations, which correspond to the measured quantity and measured directions, respectively. In this paper, the signal processing algorithm, the fringe tracking method, is presented for TEFPI optical fiber sensors with a signal that differs from conventional interferometric sensors. The algorithm is verified by application to simulated and experimental sensor signals from strain measurements. The algorithm successfully processed TEFPI optical fiber sensor signals by finding the correct positions of peaks, valleys and signal levels, and by calculating the exact measured quantity and directions.

  13. 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

  14. 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.

  15. 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

  16. 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 ...

  17. Cerivastatin induces type-I fiber-, not type-II fiber-, predominant muscular toxicity in the young male F344 rats.

    PubMed

    Obayashi, Hisakuni; Nezu, Yoshikazu; Yokota, Hatsue; Kiyosawa, Naoki; Mori, Kazuhiko; Maeda, Naoyuki; Tani, Yoshiro; Manabe, Sunao; Sanbuissho, Atsushi

    2011-08-01

    3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors (statins) are associated with adverse skeletal muscle toxicity, but the underlying mechanism remains unclear. To investigate the pathological mechanism of statin-induced myotoxicity, cerivastatin (20 ppm; corresponding to 2 mg/kg/day) was dietarily administered to young male F344 rats for 10 days, and time-course clinical observations, measurement of plasma creatine kinase activity, and light and electron microscopy of type I fiber-predominant skeletal muscle (soleus) or type II fiber-predominant skeletal muscles (extensor digitorum longus and tibialis anterior), were performed. Clinical symptoms including weakness of hind limbs, staggering gait and body weight loss, accompanied by marked plasma creatinine kinase elevation in rats fed cerivastatin at around Day 6 to 8. Interestingly, microscopic examination revealed that cerivastatin-induced muscle damages characterized by hypercontraction (opaque) and necrosis of the fibers were of particular abundance in the soleus muscle at Day 8, whereas these histological lesions in the extensor digitorum longus and tibialis anterior were negligible, even at Day 9. Prior to manifestation of muscle damage, swollen mitochondria and autophagic vacuoles in the soleus were observed as the earliest ultra structural changes at Day 6; then activated lysosomes, disarray of myofibril and dilated sarcoplasmic reticulum vesicles became ubiquitous at Day 8. These results demonstrate that cerivastatin induces type I fiber-predominant muscles injury, which is associated with mitochondrial damage, in young male F344 rats. Since the rat exhibiting type I fiber-targeted injury is a unique animal model for statin-induced myotoxicity, it will be useful for gaining insight into mechanisms of statin-induced myotoxicity. PMID:21804308

  18. 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

  19. Congenital Type III von Willebrand’s disease unmasked by hypothyroidism in a Shetland sheepdog

    PubMed Central

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

    2015-01-01

    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

  20. 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

  1. Gompertzian mortality derived from competition between cell-types: congenital, toxicologic and biometric determinants of longevity.

    PubMed

    Bass, L; Green, H S; Boxenbaum, H

    1989-09-22

    Gompertz-Makeham kinetics of population mortality is derived in terms of competition between hypothetical life-prolonging and life-shortening regulatory elements (cells) interacting in each organism by generalized Volterra-type competitive exclusion. The model is developed on two levels, the first applicable to homogeneous populations, and the second, a statistical generalization, applicable to inhomogeneous populations. It offers a natural classification of effects of exogeneous agents on longevity, including hormetic and paradoxical effects of toxic substances, thus relating to problems of risk assessment by extrapolation from high to low doses. Two applications, concerning the effects of radiation on mice and Drosophila imagos, respectively, are used to illustrate the flexibility of the model in the analysis and interpretation of observational data. PMID:2615397

  2. 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

  3. Impact of a Saw-type Lint Cleaner's Operation on Fiber Quality

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The saw-type lint cleaner is the primary method of cleaning lint at gins. Two one-year studies were conducted to examine fiber quality properties produced by a saw-type lint cleaner in response to variations in: feed rate, saw speed, combing ratio, variety and lint moisture. One hairy-leaf and two...

  4. Niacin supplementation increases the number of oxidative type I fibers in skeletal muscle of growing pigs

    PubMed Central

    2013-01-01

    Background A recent study showed that niacin supplementation counteracts the obesity-induced muscle fiber switching 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, PGC-1α and PGC-1β, leading to muscle fiber switching and up-regulation of genes involved in mitochondrial fatty acid import and oxidation, citrate cycle, oxidative phosphorylation, mitochondrial biogenesis. The aim of the present study was to investigate whether niacin supplementation causes type II to type I muscle and changes the metabolic phenotype of skeletal muscles in growing pigs. Results 25 male, 11 wk old crossbred pigs (Danzucht x Pietrain) with an average body weight of 32.8 ± 1.3 (mean ± SD) kg were randomly allocated to two groups of 12 (control group) and 13 pigs (niacin group) which were fed either a control diet or a diet supplemented with 750 mg niacin/kg diet. After 3 wk, the percentage number of type I fibers in three different muscles (M. longissismus dorsi, M. quadriceps femoris, M. gastrocnemius) was greater in the niacin group and the percentage number of type II fibers was lower in the niacin group than in the control group (P < 0.05). The mRNA levels of PGC-1β and genes involved in mitochondrial fatty acid catabolism (CACT, FATP1, OCTN2), citrate cycle (SDHA), oxidative phosphorylation (COX4/1, COX6A1), and thermogenesis (UCP3) in M. longissimus dorsi were greater in the niacin group than in the control group (P < 0.05). Conclusions The study demonstrates that niacin supplementation induces type II to type I muscle fiber switching, and thereby an oxidative metabolic phenotype of skeletal muscle in pigs. Given that oxidative muscle types tend to develop dark, firm and dry pork in response to intense physical activity and/or high psychological stress levels preslaughter, a niacin

  5. 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

  6. 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.

  7. Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India

    PubMed Central

    Modi, Gaurang; Shah, Sandip; Panchal, Harsha; Patel, Apurva; Uparkar, Urmila; Anand, Asha; Parikh, Sonia; Patel, Kinnari; Shah, Kamlesh; Revannasiddaiah, Swaroop

    2015-01-01

    The most frequent form of congenital dyserythropoiesis (CDA) is congenital dyserythropoietic anemia II (CDA II). CDA II is a rare genetic anemia in humans, inherited in an autosomally recessive mode, characterized by hepatosplenomegaly normocytic anemia and hemolytic jaundice. Patients are usually transfusion-independent except in severe type. We are here reporting a case of severe transfusion-dependent type II congenital dyserythropoietic anemia in a 5-year-old patient who has undergone allogeneic hematopoietic stem cell transplantation (HSCT) at our bone marrow transplantation centre. Patient has had up until now more than 14 mL/kg/month of packed cell volume (PCV), which he required every 15 to 20 days to maintain his hemoglobin of 10 gm/dL and hematocrit of 30%. His pre-HSCT serum ferritin was 1500 ng/mL and he was on iron chelating therapy. Donor was HLA identical sibling (younger brother). The preparative regimen used was busulfan, cyclophosphamide, and antithymocyte globulin (Thymoglobulin). Cyclosporine and short-term methotrexate were used for graft versus host disease (GVHD) prophylaxis. Engraftment of donor cells was quick and the posttransplant course was uneventful. The patient is presently alive and doing well and he has been transfusion-independent for the past 33 months after HSCT. PMID:25692053

  8. [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

  9. RNA Sequencing Reveals a Slow to Fast Muscle Fiber Type Transition after Olanzapine Infusion in Rats

    PubMed Central

    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

  10. Skeletal muscle lipid content and oxidative activity in relation to muscle fiber type in aging and metabolic syndrome.

    PubMed

    Gueugneau, Marine; Coudy-Gandilhon, Cécile; Théron, Laëtitia; Meunier, Bruno; Barboiron, Christiane; Combaret, Lydie; Taillandier, Daniel; Polge, Cécile; Attaix, Didier; Picard, Brigitte; Verney, Julien; Roche, Frédéric; Féasson, Léonard; Barthélémy, Jean-Claude; Béchet, Daniel

    2015-05-01

    One of the most noticeable effects of aging is the reduction in skeletal muscle mass and strength (sarcopenia). The metabolic syndrome (MS) is also prevalent in old subjects, but its relevance to skeletal muscle characteristics has poorly been investigated. Immunohistochemical studies were performed with muscle biopsies from young (22 years) and old (73 years) men with and without MS to reveal age-dependent and MS-associated modifications of fiber-type characteristics. Atrophy of type II fibers and altered fiber shape characterized muscle aging in lean healthy men. In contrast, increased cross-sectional area of the most abundant type I and type IIA fibers, and reduced cytochrome c oxidase content in all fiber types, characterized MS. Aging and particularly MS were associated with accumulation of intramyocellular lipid droplets. Although lipids mostly accumulated in type I fibers, matrix-assisted laser desorption/ionization-mass spectrometry imaging of intramyocellular lipids did not distinguish fiber types, but clearly separated young, old, and MS subjects. In conclusion, our study suggests that MS in the elderly persons is associated with alterations in skeletal muscle at a fiber-type specific level. Overall, these fiber type-specific modifications may be important both for the age-related loss of muscle mass and strength and for the increased prevalence of MS in elderly subjects. PMID:24939997

  11. Idiopathic lactic acidemia with developmental delay and type 1 muscle fiber atrophy: report of two patients.

    PubMed

    Iso, A; Murakami, N; Yoneyama, H; Hanaoka, S; Kurokawa, T; Nonaka, I

    1993-01-01

    Two infants with generalized muscle hypotonia with mild muscle weakness and markedly delayed developmental milestones, had high lactate levels in serum and cerebrospinal fluid from early infancy. Biochemical and morphologic studies of biopsied muscles disclosed no abnormality except for type 1 fiber atrophy, which was quite different from patients with central nervous involvement with type 2 fiber atrophy. In both patients, the disease was not progressive and lactate levels gradually decreased. Although no metabolic defect was found, these patients probably shared common pathogenetic mechanism. PMID:8279656

  12. Fiber-type susceptibility to eccentric contraction-induced damage of hindlimb-unloaded rat AL muscles

    NASA Technical Reports Server (NTRS)

    Vijayan, K.; Thompson, J. L.; Norenberg, K. M.; Fitts, R. H.; Riley, D. A.

    2001-01-01

    Slow oxidative (SO) fibers of the adductor longus (AL) were predominantly damaged during voluntary reloading of hindlimb unloaded (HU) rats and appeared explainable by preferential SO fiber recruitment. The present study assessed damage after eliminating the variable of voluntary recruitment by tetanically activating all fibers in situ through the motor nerve while applying eccentric (lengthening) or isometric contractions. Muscles were aldehyde fixed and resin embedded, and semithin sections were cut. Sarcomere lesions were quantified in toluidine blue-stained sections. Fibers were typed in serial sections immunostained with antifast myosin and antitotal myosin (which highlights slow fibers). Both isometric and eccentric paradigms caused fatigue. Lesions occurred only in eccentrically contracted control and HU muscles. Fatigue did not cause lesions. HU increased damage because lesioned- fiber percentages within fiber types and lesion sizes were greater than control. Fast oxidative glycolytic (FOG) fibers were predominantly damaged. In no case did damaged SO fibers predominate. Thus, when FOG, SO, and hybrid fibers are actively lengthened in chronically unloaded muscle, FOG fibers are intrinsically more susceptible to damage than SO fibers. Damaged hybrid-fiber proportions ranged between these extremes.

  13. Dietary Fiber

    MedlinePlus

    Fiber is a substance in plants. Dietary fiber is the kind you eat. It's a type of carbohydrate. You may also see it listed on a food label as soluble fiber or insoluble fiber. Both types have important health benefits. Good sources of dietary fiber include Whole grains Nuts ...

  14. Restricting calcium currents is required for correct fiber type specification in skeletal muscle

    PubMed Central

    Sultana, Nasreen; Dienes, Beatrix; Benedetti, Ariane; Tuluc, Petronel; Szentesi, Peter; Sztretye, Monika; Rainer, Johannes; Hess, Michael W.; Schwarzer, Christoph; Obermair, Gerald J.; Csernoch, Laszlo

    2016-01-01

    ABSTRACT Skeletal muscle excitation-contraction (EC) coupling is independent of calcium influx. In fact, alternative splicing of the voltage-gated calcium channel CaV1.1 actively suppresses calcium currents in mature muscle. Whether this is necessary for normal development and function of muscle is not known. However, splicing defects that cause aberrant expression of the calcium-conducting developmental CaV1.1e splice variant correlate with muscle weakness in myotonic dystrophy. Here, we deleted CaV1.1 (Cacna1s) exon 29 in mice. These mice displayed normal overall motor performance, although grip force and voluntary running were reduced. Continued expression of the developmental CaV1.1e splice variant in adult mice caused increased calcium influx during EC coupling, altered calcium homeostasis, and spontaneous calcium sparklets in isolated muscle fibers. Contractile force was reduced and endurance enhanced. Key regulators of fiber type specification were dysregulated and the fiber type composition was shifted toward slower fibers. However, oxidative enzyme activity and mitochondrial content declined. These findings indicate that limiting calcium influx during skeletal muscle EC coupling is important for the secondary function of the calcium signal in the activity-dependent regulation of fiber type composition and to prevent muscle disease. PMID:26965373

  15. Congenital cataract

    MedlinePlus

    ... of the following birth defects: Chondrodysplasia syndrome Congenital rubella Conradi-Hünermann syndrome Down syndrome (trisomy 21) Ectodermal ... Images Eye Cataract - close-up of the eye Rubella syndrome Cataract References Dahan E. Pediatric cataract surgery. ...

  16. Congenital syphilis

    MedlinePlus

    ... fact that this disease can be cured with antibiotics if caught early, rising rates of syphilis among pregnant women in the United States have increased the number of infants born with congenital syphilis.

  17. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin. PMID:27076244

  18. Congenital toxoplasmosis

    MedlinePlus

    Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... Toxoplasmosis infection can be passed to a developing baby if the mother becomes infected while pregnant. The ...

  19. Congenital rubella

    MedlinePlus

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

  20. 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 ...

  1. 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

  2. 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. ...

  3. Fiber

    MedlinePlus

    ... short period of time can cause intestinal gas ( flatulence ), bloating , and abdominal cramps . This problem often goes ... 213. National Research Council. Dietary Reference Intakes for Energy, Carbohydrate, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and ...

  4. Comparison of regenerative and reinnervating capabilities of different functional types of nerve fibers.

    PubMed

    Navarro, X; Verdú, E; Butí, M

    1994-10-01

    Functional reinnervation of sweat glands (SGs), skin, and muscle in the mouse paw after sciatic nerve lesions was evaluated to allow comparisons of the regeneration efficiency of different functional types of nerve fibers. In four groups of mice the sciatic nerve was crushed, sectioned, and left unrepaired or repaired by suture or tubulization. Reappearance of SG secretion and pinprick responses occurred slightly earlier than recordings of compound muscle and nerve action potentials in all groups. The degree of reinnervation, with respect to preoperative control values, of SGs and skin nociceptors was higher than the amplitude of the action potentials, mainly when the nerve injury was severe. The chances for recovery progressively decreased with the severity of the lesion, affecting the larger nerve fibers most. These results indicate that, after injuries of peripheral nerves, all types of nerve fibers are able to regenerate in the mouse, although small size fibers (sudomotor and nociceptive) allow for a higher degree of functional recovery than large myelinated fibers (skeletomotor and sensory). PMID:7957736

  5. Congenital midline nasofrontal masses.

    PubMed

    Saettele, Megan; Alexander, Alan; Markovich, Brian; Morelli, John; Lowe, Lisa H

    2012-09-01

    Congenital midline nasal masses are uncommon anomalies including nasal dermoids/epidermoids, nasal glial heterotopias and encephaloceles. These lesions can occur at the nasal bridge, extend intranasally and have intracranial extension with communication to the subarachnoid space. Therefore, accurate diagnosis of these lesions is critically important for presurgical planning and prevention of potentially fatal complications. Neuroimaging is essential in the evaluation of congenital midline nasal masses to identify the specific type of lesion, evaluate for the presence of intracranial extension and allow for appropriate presurgical planning. PMID:22648391

  6. [Stereovectorcardiography. Analysis of congenital excitation-conduction anomalies using a new type of microelectronic equipment (author's transl)].

    PubMed

    Schmidt-Redemann, B; Haap, K; Krause, H; von Savigny, L; Behrens, U

    1980-04-01

    The results of the first clinical trial of a stereo-VCG used for the quantitative and qualitative analysis of congenital anomalies of excitation-conduction are elaborated and discussed. Normal values for paediatric cardiological patients were calculated for the following parameters with the help of measurements from 78 patients: Pmax, Rmax, Tmax-stereovectors, their elevation and azimut, the stereo-angle between Rmax/Tmax, Pmax/Tmax and Pmax/Rmax as well as the periods from the beginning of the ventricular excitation until Rmax and Tmax. The patients were divided into 4 age groups. The group of normal individuals was compared with 22 patients having anomalies of conduction. The results show that this new technique allows more differentiated analyses of the vector loops registered according to Frank's orthogonal corrected registering system than the conventional measurements in cases of congenital anomalies. PMID:7456595

  7. Expression of Dihydropyridine and Ryanodine Receptors in Type IIA Fibers of Rat Skeletal Muscle

    PubMed Central

    Anttila, Katja; Mänttäri, Satu; Järvilehto, Matti

    2007-01-01

    In this study, the fiber type specificity of dihydropyridine receptors (DHPRs) and ryanodine receptors (RyRs) in different rat limb muscles was investigated. Western blot and histochemical analyses provided for the first time evidence that the expression of both receptors correlates to a specific myosin heavy chain (MHC) composition. We observed a significant (p=0.01) correlation between DHP as well as Ry receptor density and the expression of MHC IIa (correlation factor r=0.674 and r=0.645, respectively) in one slow-twitch, postural muscle (m. soleus), one mixed, fast-twitch muscle (m. gastrocnemius) and two fast-twitch muscles (m. rectus femoris, m. extensor digitorum longus). The highest DHP and Ry receptor density was found in the white part of m. rectus femoris (0.058±0.0060 and 0.057±0.0158 ODu, respectively). As expected, the highest relative percentage of MHC IIa was also found in the white part of m. rectus femoris (70.0±7.77%). Furthermore, histochemical experiments revealed that the IIA fibers stained most strongly for the fluorophore-conjugated receptor blockers. Our data clearly suggest that the expression of DHPRs and RyRs follows a fiber type-specific pattern, indicating an important role for these proteins in the maintenance of an effective Ca2+ cycle in the fast contracting fiber type IIA. PMID:17576431

  8. 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

  9. Effects of fiber type and diet on nuclear magnetic resonance (NMR) relaxation times of skeletal muscle

    SciTech Connect

    Mardini, I.A.; McCarter, R.J.; Fullerton, G.D.

    1986-03-01

    NMR studies of muscle have typically used muscles of mixed fiber composition and have not taken into account the metabolic state of the host. Samples of psoas (type IIB fibers) and soleus (type I fibers) muscles were obtained from 3 groups of rabbits: group C, fed regular chow; group DK fed a potassium deficient diet; and group HC fed a high cholesterol diet. The T/sub 1/ and T/sub 2/ relaxation times of psoas and soleus muscles were not significantly different for group C. Following dietary manipulation, (groups KD and HC), however, the relaxation times of the psoas and soleus muscles were significantly different. There was also a significant difference in water content of psoas muscles in groups KD and HC vs. group C but the observed differences in NMR results could be only partially accounted for by the shift in water content. The authors results suggest that (1) changes in ion or cholesterol concentration are capable of inducing changes in water bonding and structuring in muscle tissues; (2) diet must be added to the growing list of environmental factors that can cause NMR contrast changes; (3) selective use of muscles rich in one fiber type or another for NMR measurements could provide either control or diagnostic information, related to changes in body composition.

  10. 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.

  11. 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.

  12. 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

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

    PubMed

    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

  14. Proteomic Studies of a Single CNS Synapse Type: The Parallel Fiber/Purkinje Cell Synapse

    PubMed Central

    Selimi, Fekrije; Cristea, Ileana M; Heller, Elizabeth; Chait, Brian T; Heintz, Nathaniel

    2009-01-01

    Precise neuronal networks underlie normal brain function and require distinct classes of synaptic connections. Although it has been shown that certain individual proteins can localize to different classes of synapses, the biochemical composition of specific synapse types is not known. Here, we have used a combination of genetically engineered mice, affinity purification, and mass spectrometry to profile proteins at parallel fiber/Purkinje cell synapses. We identify approximately 60 candidate postsynaptic proteins that can be classified into 11 functional categories. Proteins involved in phospholipid metabolism and signaling, such as the protein kinase MRCKγ, are major unrecognized components of this synapse type. We demonstrate that MRCKγ can modulate maturation of dendritic spines in cultured cortical neurons, and that it is localized specifically to parallel fiber/Purkinje cell synapses in vivo. Our data identify a novel synapse-specific signaling pathway, and provide an approach for detailed investigations of the biochemical complexity of central nervous system synapse types. PMID:19402746

  15. Proteomic studies of a single CNS synapse type: the parallel fiber/purkinje cell synapse.

    PubMed

    Selimi, Fekrije; Cristea, Ileana M; Heller, Elizabeth; Chait, Brian T; Heintz, Nathaniel

    2009-04-14

    Precise neuronal networks underlie normal brain function and require distinct classes of synaptic connections. Although it has been shown that certain individual proteins can localize to different classes of synapses, the biochemical composition of specific synapse types is not known. Here, we have used a combination of genetically engineered mice, affinity purification, and mass spectrometry to profile proteins at parallel fiber/Purkinje cell synapses. We identify approximately 60 candidate postsynaptic proteins that can be classified into 11 functional categories. Proteins involved in phospholipid metabolism and signaling, such as the protein kinase MRCKgamma, are major unrecognized components of this synapse type. We demonstrate that MRCKgamma can modulate maturation of dendritic spines in cultured cortical neurons, and that it is localized specifically to parallel fiber/Purkinje cell synapses in vivo. Our data identify a novel synapse-specific signaling pathway, and provide an approach for detailed investigations of the biochemical complexity of central nervous system synapse types. PMID:19402746

  16. [Congenital syphilis].

    PubMed

    Tabák, Réka; Tabák, Adám; Várkonyi, Viktória

    2010-01-10

    Syphilis has been a re-emerging disease in the past few decades. As a consequence, the prevalence of congenital syphilis is expected to be on the rise. Maternal syphilis may be related to several pathologies, such as miscarriage, stillbirth, or congenital syphilis in the child. Infants that acquire syphilis in utero are frequently asymptomatic, and the organ damage caused by the infection may be apparent only years later. Syphilis is a curable disease, and most of its complications in the infant can be prevented by screening and treating the mother. Every newborn potentially infected should be treated with penicillin immediately starting on the day of birth. PMID:20061233

  17. Effect of 23-day muscle disuse on sarcoplasmic reticulum Ca2+ properties and contractility in human type I and type II skeletal muscle fibers.

    PubMed

    Lamboley, C R; Wyckelsma, V L; Perry, B D; McKenna, M J; Lamb, G D

    2016-08-01

    Inactivity negatively impacts on skeletal muscle function mainly through muscle atrophy. However, recent evidence suggests that the quality of individual muscle fibers is also altered. This study examined the effects of 23 days of unilateral lower limb suspension (ULLS) on specific force and sarcoplasmic reticulum (SR) Ca(2+) content in individual skinned muscle fibers. Muscle biopsies of the vastus lateralis were taken from six young healthy adults prior to and following ULLS. After disuse, the endogenous SR Ca(2+) content was ∼8% lower in type I fibers and maximal SR Ca(2+) capacity was lower in both type I and type II fibers (-11 and -5%, respectively). The specific force, measured in single skinned fibers from three subjects, decreased significantly after ULLS in type II fibers (-23%) but not in type I fibers (-9%). Western blot analyses showed no significant change in the amounts of myosin heavy chain (MHC) I and MHC IIa following the disuse, whereas the amounts of sarco(endo)plasmic reticulum Ca(2+)-ATPase 1 (SERCA1) and calsequestrin increased by ∼120 and ∼20%, respectively, and the amount of troponin I decreased by ∼21%. These findings suggest that the decline in force and power occurring with muscle disuse is likely to be exacerbated in part by reductions in maximum specific force in type II fibers, and in the amount of releasable SR Ca(2+) in both fiber types, the latter not being attributable to a reduced calsequestrin level. Furthermore, the ∼3-wk disuse in human elicits change in SR properties, in particular a more than twofold upregulation in SERCA1 density, before any fiber-type shift. PMID:27365282

  18. SMS fiber structure with a multimode fiber graded index type for a temperature measurement using an intensity-based interrogation system

    NASA Astrophysics Data System (ADS)

    Mufarrikha, Ainun; Hatta, Agus M.; Koentjoro, Sekartedjo

    2015-01-01

    Temperature sensing based on a singlemode-multimode-singlemode (SMS) fiber structure with a graded index multimode fiber (GI-MMF) type using an intensity-based interrogation has been investigated numerically and experimentally. The effect of temperature on the SMS fiber structure with the MMF-GI type was modeled using a modal propagation analysis (MPA). The SMS fiber structures for temperature sensor was fabricated and tested with the MMF length of 57 mm. It is demonstrated experimentally, and supported with numerical results, that the sensor showed a sensitivity of 0.063 dB/°C with a temperature measurement range of 175-325°C. This sensor offers simple configuration and low cost of fabrication for the temperature measurement applications.

  19. 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

  20. 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…

  1. Kinetic Effects of Fiber Type on the Two Subcomponents of the Huxley-Simmons Phase 2 in Muscle

    PubMed Central

    Davis, Julien S.; Epstein, Neal D.

    2003-01-01

    The Huxley-Simmons phase 2 controls the kinetics of the first stages of tension recovery after a step-change in fiber length and is considered intimately associated with tension generation. It had been shown that phase 2 is comprised of two distinct unrelated phases. This is confirmed here by showing that the properties of phase 2fast are independent of fiber type, whereas those of phase 2slow are fiber type dependent. Phase 2fast has a rate of 1000–2000 s−1 and is temperature insensitive (Q10 ∼ 1.16) in fast, medium, and slow speed fibers. Regardless of fiber type and temperature, the amplitude of phase 2fast is half (∼0.46) that of phase 1 (fiber instantaneous stiffness). Consequently, fiber compliance (cross-bridge and thick/thin filament) appears to be the common source of both phase 1 elasticity and phase 2fast viscoelasticity. In fast fibers, stiffness increases in direct proportion to tension from an extrapolated positive origin at zero tension. The simplest explanation is that tension generation can be approximated by two-state transition from attached preforce generating (moderate stiffness) to attached force generating (high stiffness) states. Phase 2slow is quite different, progressively slowing in concert with fiber type. An interesting interpretation of the amplitude and rate data is that reverse coupling of phase 2slow back to Pi release and ATP hydrolysis appears absent in fast fibers, detectable in medium speed fibers, and marked in slow fibers contracting isometrically. Contracting slow and heart muscles stretched under load could employ this enhanced reversibility of the cross-bridge cycle as a mechanism to conserve energy. PMID:12829493

  2. 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

  3. Silica optical fibers with high oxygen excess in the core: a new type of radiation-resistant fiber

    NASA Astrophysics Data System (ADS)

    Kashaykin, Pavel F.; Tomashuk, Alexander L.; Salgansky, Mikhail Y.; Abramov, Alexey N.; Iskhakova, Lyudmila D.; Lobanov, Nikolay S.; Nishchev, Konstantin N.; Guryanov, Alexey N.; Dianov, Evgeny M.

    2015-05-01

    The technology, initial properties, and the value of radiation-induced attenuation (RIA) of light in the optical communication spectral range ~1.1-1.7 μm are discussed of the novel MCVD-produced undoped-silica-core F-dopedsilica- cladding fibers, of which the core is synthesized in high O2 excess (HOE) conditions (HOE-fibers). The RIA mechanisms are analyzed and compared in the HOE-fibers and in the F-doped-silica-core fibers previously commonly considered as the most radiation-resistant. The measured RIA values in the HOE-fibers and the literature data on the RIA in the commercial radiation-resistant F-doped-silica-core fibers of Fujikura are compared at λ=1.31 and 1.55 μm. Based on this consideration, the HOE-fibers are argued to be potentially superior to the F-doped-silica-core fibers as to radiation resistance especially at long wavelengths (in particular, at λ~1.55 μm). It is also argued that the fiber drawing tension reduction can further lower RIA in the HOE-fibers. A direct experimental comparison of RIA under γ-radiation from a 60Co-source at a dose rate of 8.7 Gy/s up to a dose of 94 kGy is carried out in two HOE-fibers and a commercial radiation-resistant fiber of European make. RIA in the HOE-fibers is found to be many times lower than that in the commercial fiber throughout the optical communication spectral range ~1.1-1.7 μm.

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

    PubMed

    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

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

    NASA Astrophysics Data System (ADS)

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

    2016-05-01

    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.

  6. SC-type multi-core optical-fiber connectors using a pressurization spring

    NASA Astrophysics Data System (ADS)

    Nomoto, Etsuko; Hiruma, Kenji; Sugawara, Toshiki; Tanaka, Kenichi; Lee, Yong

    2015-10-01

    Prototype standard-connector (SC)-type physical-contact connectors were designed and fabricated for a seven-core fiber. The ferrule in the connector has a capillary inserted into a pipe, which fits into a flange with freedom to slide. After the capillary (with the seven-core fiber) and the flange are aligned and adhered, a pressurization spring is used to press fit the flange to a plug frame in a housing. Several prototype connectors have been used to achieve a low attenuation (less than 0.5 dB) and high return loss (40 dB or more). These coupling characteristics indicate that these SC-type physical-contact connectors will be one of the key devices for achieving space division multiplexing (SDM).

  7. 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

  8. 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

  9. Prostaglandin E2/cyclooxygenase pathway in human skeletal muscle: influence of muscle fiber type and age.

    PubMed

    Liu, Sophia Z; Jemiolo, Bozena; Lavin, Kaleen M; Lester, Bridget E; Trappe, Scott W; Trappe, Todd A

    2016-03-01

    Prostaglandin E2 (PGE2) produced by the cyclooxygenase (COX) pathway regulates skeletal muscle protein turnover and exercise training adaptations. The purpose of this study was twofold: 1) define the PGE2/COX pathway enzymes and receptors in human skeletal muscle, with a focus on type I and II muscle fibers; and 2) examine the influence of aging on this pathway. Muscle biopsies were obtained from the soleus (primarily type I fibers) and vastus lateralis (proportionally more type II fibers than soleus) of young men and women (n = 8; 26 ± 2 yr), and from the vastus lateralis of young (n = 8; 25 ± 1 yr) and old (n = 12; 79 ± 2 yr) men and women. PGE2/COX pathway proteins [COX enzymes (COX-1 and COX-2), PGE2 synthases (cPGES, mPGES-1, and mPGES-2), and PGE2 receptors (EP1, EP2, EP3, and EP4)] were quantified via Western blot. COX-1, cPGES, mPGES-2, and all four PGE2 receptors were detected in all skeletal muscle samples examined. COX-1 (P < 0.1) and mPGES-2 were ∼20% higher, while EP3 was 99% higher and EP4 57% lower in soleus compared with vastus lateralis (P < 0.05). Aging did not change the level of skeletal muscle COX-1, while cPGES increased 45% and EP1 (P < 0.1), EP3, and EP4 decreased ∼33% (P < 0.05). In summary, PGE2 production capacity and receptor levels are different in human skeletal muscles with markedly different type I and II muscle fiber composition. In aging skeletal muscle, PGE2 production capacity is elevated and receptor levels are downregulated. These findings have implications for understanding the regulation of skeletal muscle adaptations to exercise and aging by the PGE2/COX pathway and related inhibitors. PMID:26607246

  10. 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.

  11. 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. PMID:23676496

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

    PubMed Central

    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.

    2013-01-01

    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. PMID:23676496

  13. 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. PMID:21263681

  14. Skeletal muscle fiber type composition and performance during repeated bouts of maximal, concentric contractions

    NASA Technical Reports Server (NTRS)

    Colliander, E. B.; Dudley, G. A.; Tesch, P. A.

    1988-01-01

    Force output and fatigue and recovery patterns were studied during intermittent short-term exercise. 27 men performed three bouts of 30 maximal unilateral knee extensions on 2 different occasions. Blood flow was maintained or occluded during recovery periods (60 s). Blood flow was restricted by inflating a pneumatic cuff placed around the proximal thigh. Muscle biopsies from vastus lateralis were analyzed for identification of fast twitch (FT) and slow twitch (ST) fibers and relative FT area. Peak torque decreased during each bout of exercise and more when blood flow was restricted during recovery. Initial peak torque (IPT) and average peak torque (APT) decreased over the three exercise bouts. This response was 3 fold greater without than with blood flow during recovery. IPT and APT decreased more in individuals with mainly FT fibers than in those with mainly ST fibers. It is suggested that performance during repeated bouts of maximal concentric contractions differs between individuals with different fiber type composition. Specifically, in high intensity, intermittent exercise with emphasis on anaerobic energy release a high FT composition may not necessarily be advantageous for performance.

  15. Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1

    PubMed Central

    Haghighi, Amirreza; Razzaghy-Azar, Maryam; Talea, Ali; Sadeghian, Mahnaz; Ellard, Sian; Haghighi, Alireza

    2012-01-01

    Congenital generalized lipodystrophy (CGL) is an autosomal recessive disease characterized by the generalized scant of adipose tissue. CGL type 1 is caused by mutations in gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2). A clinical and molecular genetic investigation was performed in affected and unaffected members of two families with CGL type 1. The AGPAT2 coding region was sequenced in index cases of the two families. The presence of the identified mutations in relevant parents was tested. We identified a novel nonsense mutation (c.685G>T, p.Glu229*) and a missense substitution (c.514G>A, p.Glu172Lys). The unaffected parents in both families were heterozygous carrier of the relevant mutation. The results expand genotype–phenotype spectrum in CGL1 and will have applications in prenatal and early diagnosis of the disease. This is the first report of Persian families identified with AGPAT2 mutations. PMID:22902344

  16. Evolutive leukoencephalopathy in congenital cytomegalovirus infection.

    PubMed

    Krakar, Goran; Đaković, Ivana; Delin, Sanja; Bošnjak, Vlatka Mejaški

    2015-01-01

    Congenital cytomegalovirus infection is the most common infectious cause of congenital brain injury. Type and severity of congenital cytomegalovirus infection-related brain abnormalities depend on the developmental stage of the central nervous system at the time of fetal infection. The aim of this study was to follow the course of leukoencephalopathy in a patient with congenital cytomegalovirus infection. We describe brain magnetic resonance imaging (MRI) findings of a boy with symptomatic congenital cytomegalovirus infection performed at the age of 3 weeks, 13 months, and 4 and 7 years. Neonatal brain MRI showed most of characteristic findings in congenital cytomegalovirus infection with most prominent white matter abnormalities and cortical dysplasia. MRI follow-up images showed that cortical dysgenesis remained unchanged and static, whereas white matter abnormalities evolved over the years. We propose that leukoencephalopathy in congenital cytomegalovirus infection is not only nonprogressive or static but even evolutive and suggests both underlying disruption and delay of myelination. PMID:24453153

  17. 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

  18. Cannabidiolic-acid synthase, the chemotype-determining enzyme in the fiber-type Cannabis sativa.

    PubMed

    Taura, Futoshi; Sirikantaramas, Supaart; Shoyama, Yoshinari; Yoshikai, Kazuyoshi; Shoyama, Yukihiro; Morimoto, Satoshi

    2007-06-26

    Cannabidiolic-acid (CBDA) synthase is the enzyme that catalyzes oxidative cyclization of cannabigerolic-acid into CBDA, the dominant cannabinoid constituent of the fiber-type Cannabis sativa. We cloned a novel cDNA encoding CBDA synthase by reverse transcription and polymerase chain reactions with degenerate and gene-specific primers. Biochemical characterization of the recombinant enzyme demonstrated that CBDA synthase is a covalently flavinylated oxidase. The structural and functional properties of CBDA synthase are quite similar to those of tetrahydrocannabinolic-acid (THCA) synthase, which is responsible for the biosynthesis of THCA, the major cannabinoid in drug-type Cannabis plants. PMID:17544411

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

    PubMed

    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

  20. 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

  1. Dexmedetomidine for an awake fiber-optic intubation of a parturient with Klippel-Feil syndrome, Type I Arnold Chiari malformation and status post released tethered spinal cord presenting for repeat cesarean section

    PubMed Central

    Shah, Tanmay H.; Badve, Manasi S.; Olajide, Kowe O.; Skorupan, Havyn M.; Waters, Jonathan H.; Vallejo, Manuel C.

    2011-01-01

    Patients with Klippel-Feil Syndrome (KFS) have congenital fusion of their cervical vertebrae due to a failure in the normal segmentation of the cervical vertebrae during the early weeks of gestation and also have myriad of other associated anomalies. Because of limited neck mobility, airway management in these patients can be a challenge for the anesthesiologist. We describe a unique case in which a dexmedetomidine infusion was used as sedation for an awake fiber-optic intubation in a parturient with Klippel-Feil Syndrome, who presented for elective cesarean delivery. A 36-year-old female, G2P1A0 with KFS (fusion of cervical vertebrae) who had prior cesarean section for breech presentation with difficult airway management was scheduled for repeat cesarean delivery. After obtaining an informed consent, patient was taken in the operating room and non-invasive monitors were applied. Dexmedetomidine infusion was started and after adequate sedation, an awake fiber-optic intubation was performed. General anesthetic was administered after intubation and dexmedetomidine infusion was continued on maintenance dose until extubation. Klippel-Feil Syndrome (KFS) is a rare congenital disorder for which the true incidence is unknown, which makes it even rare to see a parturient with this disease. Patients with KFS usually have other congenital abnormalities as well, sometimes including the whole thoraco-lumbar spine (Type III) precluding the use of neuraxial anesthesia for these patients. Obstetric patients with KFS can present unique challenges in administering anesthesia and analgesia, primarily as it relates to the airway and dexmedetomidine infusion has shown promising result to manage the airway through awake fiberoptic intubation without any adverse effects on mother and fetus. PMID:24765318

  2. Differential reduction in corneal nerve fiber length in patients with type 1 or type 2 diabetes mellitus

    PubMed Central

    Stem, Maxwell S.; Hussain, Munira; Lentz, Stephen I.; Raval, Nilesh; Gardner, Thomas W.; Pop-Busui, Rodica; Shtein, Roni M.

    2014-01-01

    Aim To examine the relationship between corneal nerve fiber length (CNFL) and diabetic neuropathy (DN) status in patients with type 1 or type 2 diabetes mellitus (DM) Methods In this cross-sectional study, we examined 25 diabetic patients without DN, 10 patients with mild DN, 8 patients with severe DN, and 9 controls without diabetes. DN status was assigned based on a combination of clinical symptoms, signs, and electrophysiological testing. Patients underwent corneal confocal microscopy (CCM) of the sub-basal nerve plexus. Post-hoc analysis of the CCM images was performed to quantify the average CNFL, and ANOVA was used to assess for differences in CNFL. Results All 25 subjects without DN had type 1 DM, and subjects with DN had type 2 DM. Participants with severe DN had significantly lower CNFL (12.5 ± 6.1 mm/mm2) compared to controls (20.7 ± 2.2 mm/mm2) (p=0.009). However, lower CNFL was also found in participants with type 1 DM who did not have DN (15.1 ± 4.7 mm/mm2) relative to controls (p=0.033). Conclusions CCM of the sub-basal nerve plexus may be an indicator of early peripheral nerve degeneration in type 1 DM. Type of diabetes, in addition to degree of neuropathy, may influence the extent of corneal nerve damage. PMID:25044236

  3. The effect of various denier capillary channel polymer fibers on the alignment of NHDF cells and type I collagen.

    PubMed

    Sinclair, Kristofer D; Webb, Ken; Brown, Philip J

    2010-12-15

    If tissue engineers are to successfully repair and regenerate native tendons and ligaments, it will be essential to implement contact guidance to induce cellular and type I collagen alignment to replicate the native structure. Capillary channel polymer (CC-P) fibers fabricated by melt-extrusion have aligned micrometer scale surface channels that may serve the goal of achieving biomimetic, physical templates for ligament growth and regeneration. Previous work characterizing the behavior of normal human dermal fibroblasts (NHDF), on the 19 denier per filament (dpf) CC-P fibers, demonstrated a need for improved cellular and type I collagen alignment. Therefore, 5 and 9 dpf CC-P fibers were manufactured to determine whether their channel dimensions would achieve greater alignment. A 29 dpf CC-P fiber was also examined to determine whether cellular guidance could still be achieved within the larger dimensions of the fiber's channels. The 9 dpf CC-P fiber appeared to approach the topographical constraints necessary to induce the cellular and type I collagen architecture that most closely mirrored that of native ACL tissue. This work demonstrated that the novel cross-section of the CC-P fiber geometry could approach the necessary surface topography to align NHDF cells along the longitudinal axis of each fiber. PMID:20925084

  4. Jaw muscle fiber type distribution in Hawaiian gobioid stream fishes: histochemical correlations with feeding ecology and behavior.

    PubMed

    Maie, Takashi; Meister, Andrew B; Leonard, Gerald L; Schrank, Gordon D; Blob, Richard W; Schoenfuss, Heiko L

    2011-12-01

    Differences in fiber type distribution in the axial muscles of Hawaiian gobioid stream fishes have previously been linked to differences in locomotor performance, behavior, and diet across species. Using ATPase assays, we examined fiber types of the jaw opening sternohyoideus muscle across five species, as well as fiber types of three jaw closing muscles (adductor mandibulae A1, A2, and A3). The jaw muscles of some species of Hawaiian stream gobies contained substantial red fiber components. Some jaw muscles always had greater proportions of white muscle fibers than other jaw muscles, independent of species. In addition, comparing across species, the dietary generalists (Awaous guamensis and Stenogobius hawaiiensis) had a lower proportion of white muscle fibers in all jaw muscles than the dietary specialists (Lentipes concolor, Sicyopterus stimpsoni, and Eleotris sandwicensis). Among Hawaiian stream gobies, generalist diets may favor a wider range of muscle performance, provided by a mix of white and red muscle fibers, than is typical of dietary specialists, which may have a higher proportion of fast-twitch white fibers in jaw muscles to help meet the demands of rapid predatory strikes or feeding in fast-flowing habitats. PMID:21978841

  5. On He bubbles in neutron irradiated SYLRAMIC type SiC fibers

    SciTech Connect

    Gelles, David S; Youngblood, Gerald E

    2006-03-01

    SylramicTM type SiC fibers, which contain at least 2.3 wt% B, were examined by TEM following neutron irradiation to dose levels of ~7 dpa in HFIR at 800°C and to ~1 dpa in ATR at 1090°C. At these radiation damage dose levels, transmutation of the boron-10 component effectively “dopes” the Sylramic type fibers with up to 10,000 appm helium. Following irradiation at 800°C, bubble development was too fine to resolve even by high resolution TEM. However, following irradiation at 1090°C helium bubble development was resolvable, but complex. A fine dispersion of 1-nm bubbles was observed within the SiC grains and a coarse, non-uniform distribution of irregular 25-nm bubbles was observed on grain boundaries. In addition, some unusual arrays of planar 2.5-nm thick bubbles were observed in the SiC grains and equiaxed bubbles were observed in the boride precipitate particles contained within the fiber microstructure. Not unexpectedly, helium retention and bubble formation in β-SiC depends on details of the polycrystalline microstructure as well as the irradiation conditions.

  6. 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

  7. 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.

  8. 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.

  9. Congenital Adrenal Hyperplasia

    MedlinePlus

    MENU Return to Web version Congenital Adrenal Hyperplasia Overview What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia, or CAH, is a disorder that affects the adrenal glands. The adrenal ...

  10. 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

  11. Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.

    PubMed

    Keira, Yoko; Noguchi, Satoru; Kurokawa, Rumi; Fujita, Masako; Minami, Narihiro; Hayashi, Yukiko K; Kato, Takashi; Nishino, Ichizo

    2007-04-01

    Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in CAPN3, which encodes an intracellular cysteine protease. To elucidate the fundamental molecular changes that may be responsible for the pathological features of LGMD2A, we employed cDNA microarray analysis. We divided LGMD2A muscles into two groups according to specific pathological features: an early-stage group characterized by the presence of active necrosis and a regeneration process and a later-stage group characterized by the presence of lobulated fibers. After comparing the gene expression profiles of the two groups of LGMD2A muscles with control muscles, we identified 29 genes whose mRNA expression profiles were specifically altered in muscles with lobulated fibers. Interestingly, this group included genes that encode actin filament binding and regulatory proteins, such as gelsolin, PDZ and LIM domain 3 (PDLIM3) and troponin I1. Western blot analysis confirmed the upregulation of these proteins. From these results, we propose that abnormal increased expression of actin filament binding proteins may contribute to the changes of the intra-myofiber structures, observed in lobulated fibers in LGMD2A. PMID:17258832

  12. Type I collagen and polyvinyl alcohol blend fiber scaffold for anterior cruciate ligament reconstruction.

    PubMed

    Cai, Changbin; Chen, Cheng; Chen, Guangxing; Wang, Fuyou; Guo, Lin; Yin, Li; Feng, Dehong; Yang, Liu

    2013-06-01

    The aim of this study was to perform an evaluation of a braided fiber scaffold for anterior cruciate ligament (ACL) reconstruction. The scaffold was composed of 50% type I collagen (Col-I) and 50% polyvinyl alcohol (PVA). First, the biocompatibility and in vitro weight loss of the scaffold were tested. Then, the scaffolds were used to reconstruct the ACL in China Bama mimi pigs. At 24 weeks post-operation, the mechanical properties and histology of the regenerated ACL were analyzed. The maximum load and tensile strength were 472.43± 15.2 N and 29.71± 0.96 MPa, respectively; both were ~75% of those of native ACL and ~90% of those of fiber scaffold. This indicated that the scaffold maintained a large portion of native ACL's mechanical properties, and tissue formation on the scaffold compensated most of the tensile strength loss caused by scaffold degradation. Histology and immunohistology analysis showed the morphology and major extracellular matrix components of the regenerated ligament resembled the native ACL. Thus, the Col-I/PVA blend fiber ACL scaffold showed good potential for clinical applications. PMID:23531980

  13. Acute effects of taurine on sarcoplasmic reticulum Ca2+ accumulation and contractility in human type I and type II skeletal muscle fibers.

    PubMed

    Dutka, T L; Lamboley, C R; Murphy, R M; Lamb, G D

    2014-10-01

    Taurine occurs in high concentrations in muscle and is implicated in numerous physiological processes, yet its effects on many aspects of contractility remain unclear. Using mechanically skinned segments of human vastus lateralis muscle fibers, we characterized the effects of taurine on sarcoplasmic reticulum (SR) Ca2+ accumulation and contractile apparatus properties in type I and type II fibers. Prolonged myoplasmic exposure (>10 min) to taurine substantially increased the rate of accumulation of Ca2+ by the SR in both fiber types, with no change in the maximum amount accumulated; no such effect was found with carnosine. SR Ca2+ accumulation was similar with 10 or 20 mM taurine, but was significantly slower at 5 mM taurine. Cytoplasmic taurine (20 mM) had no detectable effects on the responsiveness of the Ca2+ release channels in either fiber type. Taurine caused a small increase in Ca2+ sensitivity of the contractile apparatus in type I fibers, but type II fibers were unaffected; maximum Ca(2+)-activated force was unchanged in both cases. The effects of taurine on SR Ca2+ accumulation (1) only became apparent after prolonged cytoplasmic exposure, and (2) persisted for some minutes after complete removal of taurine from the cytoplasm, consistent with the hypothesis that the effects were due to an action of taurine from inside the SR. In summary, taurine potentiates the rate of SR Ca2+ uptake in both type I and type II human fibers, possibly via an action from within the SR lumen, with the degree of potentiation being significantly reduced at low physiological taurine levels. PMID:25123198

  14. 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. PMID:25322103

  15. Ferrule fabrication for the MT-type optical fiber connector using the microinjection process

    NASA Astrophysics Data System (ADS)

    Lee, Chung-Jui; Lin, Jen-Fin

    2008-11-01

    This study presents a novel design to fabricate the hole array mold parts for 12 ports of the MT-type ferrule using a LIGA process. This fabrication technique can reduce the positioning error efficiently when making the mold assembly. The present design also makes replacing the mold parts convenient. The hole fabrication consists of a single x-ray exposure and development process, Ni-Co (nickel-cobalt) electroforming, and microinjection molding for a fast-curing epoxy liquid compound. Compared to conventional transfer molding technology, the present method for microinjection reduces the cycle time to about 35 s and saves on raw material. The 12 ports in the MT-type optical fiber ferrule were designed using the JIS C5981 and IEC60874-16 specifications. The diameters of the fiber holes had errors of <=1 µm, and their position was smaller than 2 µm these dimensions conform to the single-mode specifications. The proposed LIGA technique has been proven to be effective in reducing the positioning error in mold assembly construction. For the single-mode MT-type connector in the present study, the mean insertion loss (IL) was lower than that shown in the reported literature while the mean return loss (RL) was higher. The uniformities exhibited in IL and RL are much better than those previously reported.

  16. Relationship between shot put performance and triceps brachii fiber type composition and power production.

    PubMed

    Terzis, G; Georgiadis, G; Vassiliadou, E; Manta, P

    2003-09-01

    It is commonly accepted that shot put performance is mainly determined by the ability of the lower body to produce power. The purpose of the present study was to investigate the relationship between shot put performance and triceps brachii muscle fiber type composition and strength capacity. Thirteen male physical education students were selected to participate in the study based upon their shot put performance after 5 weeks of shot put technique instruction. At the completion of this technique-instruction period, they performed the following tests: shot put with a 6-kg shot, isokinetic torque measurements of the elbow extensors at 0, 0.52, 1.04, 1.57, 2.09, 3.14, and 4.19 rad.s(-1), maximal strength (1 RM) and explosive-throwing bench-press tests, one-arm seated shot put with 1-, 2-, 3-, 4-, 5- and 6-kg shot. Whole-body and dominant upper-arm bioimpedance measurements were used to estimate whole-body and upper-arm muscle mass. Muscle biopsy samples from the long head of the dominant triceps brachii were obtained and analyzed for fiber type composition with ATPase histochemistry. Shot put performance was significantly correlated with type II fiber area ( r=0.70, P<0.01), one-arm seated shot put (range r=0.60 to r=0.79, P<0.05), elbow extensors' isokinetic torque (range r=0.65 to r=0.78, P<0.05), bench-press tests ( r>0.86, P<0.01) and estimated arm muscle cross-sectional area ( r=0.68, P<0.05). These results suggest that fiber type composition and the functional capacity of triceps brachii muscle (e.g., isokinetic torque) explain a part of shot put performance. The magnitude of the correlation coefficients between shot put and the upper-body power tests suggests that other body parts (e.g., lower extremities) may play a significant role in this event. PMID:12768426

  17. 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.

  18. 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

  19. 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

  20. 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

  1. 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. PMID:22810998

  2. 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

  3. Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.

    PubMed Central

    Thiel, Christian; Schwarz, Markus; Hasilik, Martin; Grieben, Ulrike; Hanefeld, Folker; Lehle, Ludwig; von Figura, Kurt; Körner, Christian

    2002-01-01

    Deficiency of the endoplasmic reticulum enzyme dolichyl-phosphate mannose (Dol-P-Man):Man(7)GlcNAc(2)-PP-dolichyl mannosyltransferase leads to a new type of congenital disorder of glycosylation, designated type Ig. The patient 1 presented with a multisystemic disorder with microcephaly, developmental retardation, convulsions and dysmorphic signs. The isoelectric focusing pattern of the patient's serum transferrin showed the partial loss of complete N-glycan side chains. In skin fibroblasts from the patient, the activity of Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol mannosyltransferase was severely reduced leading to the accumulation of Man(7)GlcNAc(2)-PP-Dol, which was transferred to newly synthesized glycoproteins. Sequencing of the Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol mannosyltransferase cDNA revealed a compound heterozygosity for two point mutations, leading to the exchange of leucine(158) for a proline residue and a premature translation stop with loss of the C-terminal 74 amino acids. The parents were heterozygous for one of the two mutations. Retroviral expression of the wild-type Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol mannosyltransferase cDNA in patient's fibroblasts normalized the mannosyltransferase activity. PMID:12093361

  4. 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.

  5. 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

  6. Microvascular oxygen pressures in muscles comprised of different fiber types: Impact of dietary nitrate supplementation.

    PubMed

    Ferguson, Scott K; Holdsworth, Clark T; Wright, Jennifer L; Fees, Alex J; Allen, Jason D; Jones, Andrew M; Musch, Timothy I; Poole, David C

    2015-08-01

    Nitrate (NO3(-)) supplementation via beetroot juice (BR) preferentially improves vascular conductance and O2 delivery to contracting skeletal muscles comprised predominantly of type IIb + d/x (i.e. highly glycolytic) fibers following its reduction to nitrite and nitric oxide (NO). To address the mechanistic basis for NO3(-) to improve metabolic control we tested the hypothesis that BR supplementation would elevate microvascular PO2 (PO2mv) in fast twitch but not slow twitch muscle. Twelve young adult male Sprague-Dawley rats were administered BR ([NO3(-)] 1 mmol/kg/day, n = 6) or water (control, n = 6) for 5 days. PO2mv (phosphorescence quenching) was measured at rest and during 180 s of electrically-induced 1-Hz twitch contractions (6-8 V) of the soleus (9% type IIb +d/x) and mixed portion of the gastrocnemius (MG, 91% type IIb + d/x) muscles. In the MG, but not the soleus, BR elevated contracting steady state PO2mv by ~43% (control: 14 ± 1, BR: 19 ± 2 mmHg (P < 0.05)). This higher PO2mv represents a greater blood-myocyte O2 driving force during muscle contractions thus providing a potential mechanism by which NO3(-) supplementation via BR improves metabolic control in fast twitch muscle. Recruitment of higher order type II muscle fibers is thought to play a role in the development of the VO2 slow component which is inextricably linked to the fatigue process. These data therefore provide a putative mechanism for the BR-induced improvements in high-intensity exercise performance seen in humans. PMID:25280991

  7. Microvascular oxygen pressures in muscles comprised of different fiber types: Impact of dietary nitrate supplementation

    PubMed Central

    Ferguson, Scott K.; Holdsworth, Clark T.; Wright, Jennifer L.; Fees, Alex J.; Allen, Jason D.; Jones, Andrew M.; Musch, Timothy I.; Poole, David C.

    2014-01-01

    Nitrate (NO3−) supplementation via beetroot juice (BR) preferentially improves vascular conductance and O2 delivery to contracting skeletal muscles comprised predominantly of type IIb + d/x (i.e. highly glycolytic) fibers following its reduction to nitrite and nitric oxide (NO). To address the mechanistic basis for NO3− to improve metabolic control we tested the hypothesis that increased NO bioavailability via BR supplementation would elevate microvascular PO2 (PO2mv) in fast twitch but not slow twitch muscle. Twelve young adult male Sprague-Dawley rats were administered BR ([NO3−] 1 mmol/kg/day, n=6) or water (control, n=6) for 5 days. PO2mv (phosphorescence quenching) was measured at rest and during 180s of electrically induced 1-Hz twitch contractions (6–8 V) of the soleus (9% type IIb +d/x) and mixed portion of the gastrocnemius (MG, 91% type IIb + d/x) muscles. In the MG, but not the soleus, BR elevated contracting steady state PO2mv by ~43% (control: 13.7 ± 0.5, BR: 19 ± 1.6 mmHg, (P<0.05). This higher PO2mv represents a greater blood-myocyte O2 driving force during muscle contractions thus providing a potential mechanism by which NO3− supplementation via BR improves metabolic control in fast twitch muscle. Recruitment of higher order type II muscle fibers is thought to play a role in the development of the V.O2 slow component which is inextricably linked to the fatigue process. These data therefore provide a putative mechanism for the BR-induced improvements in high-intensity exercise performance seen in humans. PMID:25280991

  8. Congenital neuroblastoma

    PubMed Central

    Evans, A. R.

    1965-01-01

    The clinical histories and post-mortem findings in five cases of neuroblastoma are described, and an account given of the microscopic characteristics of the tumours. In four of the cases the tumour was present at birth and was probably so in the fifth case. In only one case was the presence of the malignant tumour a significant factor in causing death. The differential diagnosis of such tumours is discussed. The accumulated evidence of many recorded cases suggests that neuroblastoma, becoming manifest in the early months or weeks of life, and congenital tumour, would be included in such a group, and has an appreciably better prognosis than has this same tumour when it becomes manifest in later childhood. The literature is briefly reviewed to illustrate this aspect of prognosis and possible reasons for it are indicated. Images PMID:14247705

  9. Congenital Cholesteatoma.

    PubMed

    Walker, David; Shinners, Michael J

    2016-05-01

    Congenital cholesteatoma is one of the more common causes of the onset of childhood conductive hearing loss unrelated to middle ear effusion. If undiagnosed, the disease can progress to irreversibly destroy the conductive hearing architecture, as well as the surrounding skull base of the lateral temporal bone. When diagnosed early, the growth can be removed and the conductive hearing mechanism preserved in the vast majority of patients. Because most children are asymptomatic, the burden falls on primary care providers to perform pneumatic otoscopy and visualize all quadrants of the tympanic membrane even in young children who frequently resist attempts to conduct a thorough examination to rule out suspicious lesions. [Pediatr Ann. 2016;45(5):e167-e170.]. PMID:27171804

  10. Congenital amusia.

    PubMed

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. PMID:23622169

  11. Dietary Fiber

    MedlinePlus

    Fiber is a substance in plants. Dietary fiber is the kind you eat. It's a type of carbohydrate. You may also see it listed on a food label as soluble ... types have important health benefits. Good sources of dietary fiber include Whole grains Nuts and seeds Fruit and ...

  12. The effect of fiber reinforcement type and water storage on strength properties of a provisional fixed partial denture resin.

    PubMed

    Uzun, Gülay; Keyf, Filiz

    2003-04-01

    Fracture resistance of provisional restorations is an important clinical concern. This property is directly related to transverse strength. Strengthening of provisional fixed partial dentures may result from reinforcement with various fiber types. This study evaluated the effect of fiber type and water storage on the transverse strength of a commercially available provisional resin under two different conditions. The denture resin was reinforced with either glass or aramid fiber or no reinforcement was used. Uniform samples were made from a commercially available autopolymerizing provisional fixed partial denture resin. Sixteen bar-shaped specimens (60 x 10 x 4 mm) were reinforced with pre-treated epoxy resin-coated glass fibers, with aramid fibers, or with no fibers. Eight specimens of each group, with and without fibers, were tested after 24 h of fabrication (immediate group), and after 30-day water storage. A three-point loading test was used to measure the transverse strength, the maximal deflection, and the modulus of elasticity. The Kruskal-Wallis Analysis of Variance was used to examine differences among the three groups, and then the Mann-Whitney U Test and Wilcoxon Signed Ranks Test were applied to determine pair-wise differences. The transverse strength and the maximal deflection values in the immediate group and in the 30-day water storage group were not statistically significant. In the group tested immediately, the elasticity modulus was found to be significant (P = 0.042). In the 30-day water storage group, all the values were statistically insignificant. The highest transverse strength was displayed by the glass-reinforced resin (66.25MPa) in the immediate group. The transverse strength value was 62.04MPa for the unreinforced samples in the immediate group. All the specimens exhibited lower transverse strength with an increase in water immersion time. The transverse strength value was 61.13 MPa for the glass-reinforced resin and was 61.24 MPa for the

  13. Congenital hypothyroidism

    PubMed Central

    Agrawal, Pankaj; Philip, Rajeev; Saran, Sanjay; Gutch, Manish; Razi, Mohd Sayed; Agroiya, Puspalata; Gupta, Keshavkumar

    2015-01-01

    Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4) or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ) and the age at diagnosis. Levothyroxine (l-thyroxine) is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential. PMID:25729683

  14. 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

  15. What proportion of congenital abnormalities can be prevented?

    PubMed Central

    Czeizel, A E; Intôdy, Z; Modell, B

    1993-01-01

    OBJECTIVE--To estimate the proportion of preventable congenital abnormalities in Hungary. DESIGN--Analysis of available Hungarian data-bases and of the effectiveness of primary, secondary, and tertiary preventive methods. SETTING--Databases of ad hoc epidemiological studies and of the Hungarian congenital abnormality registry. MAIN OUTCOME MEASURES--Prevalence at birth and prevalence after prevention in 73 congenital abnormality types or groups. RESULTS--Preventive methods are available for 51 (70%) of the 73 congenital abnormality types or groups evaluated. The birth prevalence of all congenital abnormalities could be reduced from 65 to 26 per 1000; thus 39 per 1000 (60%) are preventable. Without congenital dislocation of the hip, which is unusually common in Hungary, the preventable proportion of congenital abnormalities is 52%. CONCLUSION--Many congenital abnormalities can be prevented, but as they do not represent a single pathological category there is no single strategy for their prevention. Images p502-a p503-a PMID:8448464

  16. 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

  17. Radiation properties of two types of luminous textile devices containing plastic optical fibers

    NASA Astrophysics Data System (ADS)

    Selm, Bärbel; Rothmaier, Markus

    2007-05-01

    Luminous textiles have the potential to satisfy a need for thin and flexible light diffusers for treatment of intraoral cancerous tissue. Plastic optical fibers (POF) with diameters of 250 microns and smaller are used to make the textiles luminous. Usually light is supplied to the optical fiber at both ends. On the textile surface light emission occurs in a woven structure via damaged straight POFs, whereas the embroidered structure radiates the light out of macroscopically bent POFs. We compared the optical properties of these two types of textile diffusers using red light laser for the embroidery and light emitting diode (LED) for the woven structure as light sources, and found efficiencies for the luminous areas of the two samples of 19 % (woven) and 32 % (embroidery), respectively. It was shown that the efficiency can be greatly improved using an aluminium backing. Additional scattering layers lower the fluence rate by around 30 %. To analyse the homogeneity we took a photo of the illuminated surface using a 3CCD camera and found, for both textiles, a slightly skewed distribution of the dark and bright pixels. The interquartile range of brightness distribution of the embroidery is more than double as the woven structure.

  18. 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. PMID:26233410

  19. Signal processing algorithm of newly developed transmission-type extrinsic Fabry-Perot interferometric optical fiber sensor

    NASA Astrophysics Data System (ADS)

    Kim, Sang-Hoon; Lee, Jung-Ju; Kwon, Il-Bum

    2000-06-01

    The newly developed TEFPI (transmission-type extrinsic Fabry- Perot interferometric) optical fiber sensor can distinguish the direction of measurement more simply and effectively than the conventional reflection-type EFPI optical fiber sensors. The output signal of the TEFPI optical fiber sensor has the characteristics that the signal level of fringes shows a negative slope for a tensile direction and a positive slope for a compressive direction. Based on these characteristics, the direction of measurement of the TEFPI optical fiber sensor can be distinguished with ease. In this paper, the signal processing algorithm adequate to the TEFPI optical fiber sensor was developed. This algorithm can process signal with recognition of the positions of peaks, valleys and signal levels of fringes. Thus this can determine a measurement direction and the positions of direction changes by using the change trend of signal levels. The developed algorithm makes the post-process and real-time process of the signal of the TEFPI optical fiber sensor possible.

  20. 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.

  1. Congenital Heart Block Maternal Sera Autoantibodies Target an Extracellular Epitope on the α1G T-Type Calcium Channel in Human Fetal Hearts

    PubMed Central

    Rath, Arianna; Liu, Jie; Silverman, Earl D.; Liu, Xiaoru; Siragam, Vinayakumar; Ackerley, Cameron; Su, Brenda Bin; Yan, Jane Yuqing; Capecchi, Marco; Biavati, Luca; Accorroni, Alice; Yuen, William; Quattrone, Filippo; Lung, Kalvin; Jaeggi, Edgar T.; Backx, Peter H.; Deber, Charles M.; Hamilton, Robert M.

    2013-01-01

    Background Congenital heart block (CHB) is a transplacentally acquired autoimmune disease associated with anti-Ro/SSA and anti-La/SSB maternal autoantibodies and is characterized primarily by atrioventricular (AV) block of the fetal heart. This study aims to investigate whether the T-type calcium channel subunit α1G may be a fetal target of maternal sera autoantibodies in CHB. Methodology/Principal Findings We demonstrate differential mRNA expression of the T-type calcium channel CACNA1G (α1G gene) in the AV junction of human fetal hearts compared to the apex (18–22.6 weeks gestation). Using human fetal hearts (20–22 wks gestation), our immunoprecipitation (IP), Western blot analysis and immunofluorescence (IF) staining results, taken together, demonstrate accessibility of the α1G epitope on the surfaces of cardiomyocytes as well as reactivity of maternal serum from CHB affected pregnancies to the α1G protein. By ELISA we demonstrated maternal sera reactivity to α1G was significantly higher in CHB maternal sera compared to controls, and reactivity was epitope mapped to a peptide designated as p305 (corresponding to aa305–319 of the extracellular loop linking transmembrane segments S5–S6 in α1G repeat I). Maternal sera from CHB affected pregnancies also reacted more weakly to the homologous region (7/15 amino acids conserved) of the α1H channel. Electrophysiology experiments with single-cell patch-clamp also demonstrated effects of CHB maternal sera on T-type current in mouse sinoatrial node (SAN) cells. Conclusions/Significance Taken together, these results indicate that CHB maternal sera antibodies readily target an extracellular epitope of α1G T-type calcium channels in human fetal cardiomyocytes. CHB maternal sera also show reactivity for α1H suggesting that autoantibodies can target multiple fetal targets. PMID:24039792

  2. Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.

    PubMed

    Platzer, J; Engel, J; Schrott-Fischer, A; Stephan, K; Bova, S; Chen, H; Zheng, H; Striessnig, J

    2000-07-01

    Voltage-gated L-type Ca2+ channels (LTCCs) containing a pore-forming alpha1D subunit (D-LTCCs) are expressed in neurons and neuroendocrine cells. Their relative contribution to total L-type Ca2+ currents and their physiological role and significance as a drug target remain unknown. Therefore, we generated D-LTCC deficient mice (alpha1D-/-) that were viable with no major disturbances of glucose metabolism. alpha1D-/-mice were deaf due to the complete absence of L-type currents in cochlear inner hair cells and degeneration of outer and inner hair cells. In wild-type controls, D-LTCC-mediated currents showed low activation thresholds and slow inactivation kinetics. Electrocardiogram recordings revealed sinoatrial node dysfunction (bradycardia and arrhythmia) in alpha1D-/- mice. We conclude that alpha1D can form LTCCs with negative activation thresholds essential for normal auditory function and control of cardiac pacemaker activity. PMID:10929716

  3. 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...% Biconstituent Fiber (65% Nylon, 35% Polyester) 80% Matrix Fiber (60% Nylon, 40% Polyester) 15% Polyester...

  4. 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...% Biconstituent Fiber (65% Nylon, 35% Polyester) 80% Matrix Fiber (60% Nylon, 40% Polyester) 15% Polyester...

  5. 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...% Biconstituent Fiber (65% Nylon, 35% Polyester) 80% Matrix Fiber (60% Nylon, 40% Polyester) 15% Polyester...

  6. 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...% Biconstituent Fiber (65% Nylon, 35% Polyester) 80% Matrix Fiber (60% Nylon, 40% Polyester) 15% Polyester...

  7. 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...% Biconstituent Fiber (65% Nylon, 35% Polyester) 80% Matrix Fiber (60% Nylon, 40% Polyester) 15% Polyester...

  8. 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

  9. [Congenital myasthenic syndrome].

    PubMed

    Araga, Shigeru

    2008-06-01

    Congenital myasthenic syndromes (CMS) are rare heterogeneous disorders in which neuromuscular transmission is compromised by one or more specific mechanisms. CMS are clinically diagnosed by a history of fatigability and muscle weakness since infancy or early childhood, a decremental EMG response and the absence of acetylcholine receptor antibodies. CMS form a heterogeneous group of disorders which are classified as originating from presynaptic, synaptic or postsynaptic defects. Molecular genetic studies reveal a various type of mutations in synapse-associated genes. However, the genetic abnormalities of many CMS are still unresolved. This article outlines the classification of CMS and etiology of individual forms. PMID:18540366

  10. Effects of disuse by limb immobilization on different muscle fiber types

    NASA Technical Reports Server (NTRS)

    Booth, F. W.; Seider, M. J.; Hugman, G. R.

    1980-01-01

    The effects of disuse by limb immobilization on different muscle fiber types are reviewed. It is demonstrated that many changes occurring in atrophying skeletal muscles of young rats can be explained by the duration of the half-lives of muscle proteins. Differences are found to exist in responses of fast- and slow-twitch muscles due to disuse atrophy, and the appearance of plasticity in skeletal muscle begins to occur very soon after changes in the level of contractile activity. Rates of protein degradation increase in slow-twitch muscles at rapidly growing rates after approximately one day of limb immobilization; however, no change in the rates of protein degradation is noted in fast-twitch muscles of young rats.

  11. Abstract: Seasonal Fiber Responses of Three Sugarcane Cultivars to Soil Type and Crop Cycle

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Technical Abstract: Fiber content is an important trait of sugarcane (Saccharum spp.) cultivars. Sufficient fiber is needed to generate electricity for the sugarcane mill and refinery, but excessive fiber reduces sugar recovery. The purpose of this study was to determine the effects of sample coll...

  12. Parameter design of signal processing for transmission/reflection-type hybrid extrinsic Fabry Perot interferometric optical fiber sensors

    NASA Astrophysics Data System (ADS)

    Kim, Sang-Hoon; Lee, Jung-Ju

    2005-02-01

    A transmission/reflection-type hybrid extrinsic Fabry-Perot interferometric (TRHEFPI) optical fiber sensor presents transmission-type and reflection-type sensor signals simultaneously, and measurement directions can be robustly distinguished with the phase lead or lag of the linear combination signal from the original sensor signal. This sensor principle compensates for the ambiguous distinction of the measurement directions and direction changes of conventional interferometric optical fiber sensors, including extrinsic Fabry-Perot interferometric optical fiber sensors, due to the exclusive use of fringe counting in signal processing. Designing a sensor coefficient in the linear combination signal is one of the most important works in signal processing for the TRHEFPI optical fiber sensor because the magnitude of the phase shifts depends on the sensor coefficient. A design method of the sensor coefficient is presented in this research. The method was verified with experimental sensor signals and applied to strain measurement experiments. A method of absolute measurement using the TRHEFPI optical fiber sensor is also presented.

  13. Dietary fat content and fiber type modulate hind gut microbial community and metabolic markers in the pig.

    PubMed

    Yan, Hui; Potu, Ramesh; Lu, Hang; Vezzoni de Almeida, Vivian; Stewart, Terry; Ragland, Darryl; Armstrong, Arthur; Adeola, Olayiwola; Nakatsu, Cindy H; Ajuwon, Kolapo M

    2013-01-01

    Obesity leads to changes in the gut microbial community which contribute to the metabolic dysregulation in obesity. Dietary fat and fiber affect the caloric density of foods. The impact of dietary fat content and fiber type on the microbial community in the hind gut is unknown. Effect of dietary fat level and fiber type on hindgut microbiota and volatile fatty acid (VFA) profiles was investigated. Expression of metabolic marker genes in the gut, adipose tissue and liver was determined. A 2 × 2 experiment was conducted in pigs fed at two dietary fat levels (5% or 17.5% swine grease) and two fiber types (4% inulin, fermentable fructo-oligosaccharide or 4% solka floc, non-fermentable cellulose). High fat diets (HFD) resulted in a higher (P<0.05) total body weight gain, feed efficiency and back fat accumulation than the low fat diet. Feeding of inulin, but not solka floc, attenuated (P<0.05) the HFD-induced higher body weight gain and fat mass accumulation. Inulin feeding tended to lead to higher total VFA production in the cecum and resulted in a higher (P<0.05) expression of acyl coA oxidase (ACO), a marker of peroxisomal β-oxidation. Inulin feeding also resulted in lower expression of sterol regulatory element binding protein 1c (SREBP-1c), a marker of lipid anabolism. Bacteria community structure characterized by DGGE analysis of PCR amplified 16S rRNA gene fragments showed that inulin feeding resulted in greater bacterial population richness than solka floc feeding. Cluster analysis of pairwise Dice similarity comparisons of the DGGE profiles showed grouping by fiber type but not the level of dietary fat. Canonical correspondence analysis (CCA) of PCR- DGGE profiles showed that inulin feeding negatively correlated with back fat thickness. This study suggests a strong interplay between dietary fat level and fiber type in determining susceptibility to obesity. PMID:23573202

  14. 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

  15. 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.

  16. Saltatory conduction and a novel type of excitable fenestra in shrimp myelinated nerve fibers.

    PubMed

    Xu, K; Terakawa, S

    1993-01-01

    The findings of saltatory conduction in the invertebrate giant nerve fibers were mentioned, and the experiments for analyzing the mechanism of impulse conduction in the giant myelinated nerve fibers of Penaeus orientalis and Penaeus japonicus were reviewed. Saltatory conduction was also found in many middle- and small-sized myelinated nerve fibers of, at least, 6 species of Penaeus shrimps. Saltatory conduction with its morphological basis in myelinated nerve fibers of vertebrates and invertebrates were compared, and it was concluded that the myelination of the nerve fibers in vertebrates and invertebrates has occurred independently. PMID:8271510

  17. 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…

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. Congenital Heart Information Network

    MedlinePlus

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  5. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  6. Congenital heart disease

    MedlinePlus

    Congenital heart disease is a problem with the heart's structure and function that is present at birth. ... Congenital heart disease (CHD) can describe a number of different problems affecting the heart. It is the most common ...

  7. Adult Congenital Heart Association

    MedlinePlus

    ... to ACHA Search The futures of adults with congenital heart disease made brighter by their pasts Get Involved 2016 ... conference theme is "The Changing Landscape of Adult Congenital Heart Disease." Join Us Help us improve the quality of ...

  8. 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

  9. Hypokalemic periodic paralysis in primary hyperaldosteronism. Subclinical myopathy with atrophy of the type 2A muscle fibers.

    PubMed

    Bautista, J; Gil-Neciga, E; Gil-Peralta, A

    1979-01-01

    A case of a patient suffering from primary hyperaldosteronism is reported. In this case the disease is manifested clinically by periodic paralysis and hypopotasemia without permanent myopathy. The morphological study of the muscle demonstrates selective atrophy of the type 2A fibers as the most pronounced alteration. These findings suggest a chronic myopathic process. PMID:546663

  10. 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