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1.
Injury ; 55(7): 111603, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38761711

ABSTRACT

PURPOSE: This multicenter retrospective study focuses on understanding the incidence, causative bacteria, and risk factors for Periprosthetic Joint Infection (PJI) following hemiarthroplasty in elderly patients with displaced femoral neck fractures (FNF). METHODS: From 2016 to 2020, 1,619 patients were diagnosed with displaced FNFs and treated surgically across 11 centers. After exclusions, 1,438 patients (399 men and 1,039 women) were included in the study, averaging 82.1 years in age and 20.2 kg/m² in BMI, observed over 25.7 months on average. Data on demographics, medical history, surgical details, and complications were described. RESULTS: PJI occurred in 20 of the 1438 patients (1.4%). The causative organism was methicillin-susceptible Staphylococcus aureus in 6 patients and methicillin-resistant S. aureus in 6 patients. In patients' backgrounds, the average age was slightly higher in the non-PJI group (82.1 years) compared to the PJI group (80.4 years). There was a higher percentage of males in the PJI group (45%) than in the non-PJI group (27.5%). Drug history showed that the prevalence of anticoagulant use in the PJI group was 25%. Peripheral vascular disease and diabetes mellitus were more prevalent in the PJI group. Most patients in both groups were independent in daily activities. The blood transfusion rate was significantly higher in the PJI group (50%) than in the non-PJI group (23.8%). Notably, the incidence of hematoma was higher in the PJI group (40%). CONCLUSION: This multicenter retrospective study demonstrates a low incidence (1.4%) of PJI in elderly patients undergoing hemiarthroplasty for FNF, primarily due to Staphylococcus aureus. Increased usage of antiplatelets and anticoagulants, as well as comorbidities related to atherosclerosis, like peripheral vascular disease and diabetes mellitus, were observed in patients with PJI. Additionally, these patients experienced higher rates of blood transfusion and postoperative hematomas, highlighting the need for careful management. It should be noted, however, that this finding is a conclusion limited by study design issues, including the retrospective design, small PJI sample size, and variability in treatment approaches.


Subject(s)
Femoral Neck Fractures , Hemiarthroplasty , Prosthesis-Related Infections , Humans , Male , Female , Retrospective Studies , Aged, 80 and over , Femoral Neck Fractures/surgery , Risk Factors , Hemiarthroplasty/adverse effects , Aged , Incidence , Prosthesis-Related Infections/epidemiology , Prosthesis-Related Infections/microbiology , Staphylococcal Infections/epidemiology , Arthroplasty, Replacement, Hip/adverse effects
2.
Int J Methods Psychiatr Res ; 33(1): e2015, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38363207

ABSTRACT

OBJECTIVES: This study validated the Japanese version of the Attention-Deficit/Hyperactivity Disorder-Rating Scale-5 (ADHD-RS-5) and the Disruptive Behavior Disorders Rating Scale. We extended the ADHD-RS-5 by adding the oppositional defiant disorder and conduct disorder subscales to compare the two rating scales psychometrically. METHODS: We examined the internal consistency, test-retest reliability, construct validity and criterion validity of the two rating scales in 135 Japanese outpatients aged 6-18 years. RESULTS: The internal consistency and test-retest reliability were good for all the subscales of the two rating scales except for the conduct disorder subscale of the ADHD-RS-5 extended. Good construct validity was revealed by expected correlational patterns between subscales from the two rating scales and the Children Behavior Checklist. The criterion validity was good for all the subscales of the two rating scales rated by parents, while teacher-ratings revealed substantially lower predictive ability for all the subscales. Agreement between parent- and teacher-ratings of the two rating scales was generally moderate and using predictive ratings alone of both ratings showed the best predictive ability among the integration methods examined. CONCLUSION: The two rating scales have sound psychometric properties and will aid in screening and severity assessment of externalizing disorders in Japanese clinical settings.


Subject(s)
Attention Deficit Disorder with Hyperactivity , Problem Behavior , Child , Humans , Attention Deficit Disorder with Hyperactivity/diagnosis , Psychometrics/methods , Reproducibility of Results , Japan , Outpatients , Psychiatric Status Rating Scales
3.
Opt Express ; 30(20): 36889-36899, 2022 Sep 26.
Article in English | MEDLINE | ID: mdl-36258609

ABSTRACT

We propose a magneto-optical diffractive deep neural network (MO-D2NN). We simulated several MO-D2NNs, each of which consists of five hidden layers made of a magnetic material that contains 100 × 100 magnetic domains with a domain width of 1 µm and an interlayer distance of 0.7 mm. The networks demonstrate a classification accuracy of > 90% for the MNIST dataset when light intensity is used as the classification measure. Moreover, an accuracy of > 80% is obtained even for a small Faraday rotation angle of π/100 rad when the angle of polarization is used as the classification measure. The MO-D2NN allows the hidden layers to be rewritten, which is not possible with previous implementations of D2NNs.

4.
Int J Methods Psychiatr Res ; 30(2): e1857, 2021 06.
Article in English | MEDLINE | ID: mdl-33216391

ABSTRACT

OBJECTIVES: This study was designed to examine the diagnostic performance of the social and communication disorders checklist (SCDC) and strength and difficulties questionnaire (SDQ) to detect autism spectrum conditions (ASC), along with the social responsiveness scale-second edition (SRS-2) as reference, in a psychiatry outpatient setting. METHODS: We translated the SCDC into Japanese since its Japanese version was unavailable. We examined its test-retest reliability as well as the internal consistency reliability and diagnostic performance of the three questionnaires among 41 Japanese psychiatric outpatients, using the best-estimate diagnosis of ASC based on the diagnostic interview for social and communication disorders, as a gold standard. RESULTS: The test-retest reliability was high for the SCDC. Although the internal consistency reliability was high for the SCDC and SRS-2, that was low for the prosocial and peer problem subscales of the SDQ. The performance of the SCDC, SDQ, and SRS-2 to detect ASC was moderate: the area under the ROC curve of 0.78, 0.78, and 0.84, respectively. CONCLUSIONS: Although questionnaires to detect ASC, including the three examined, generally have only moderate performance in this setting, these can be successfully applied to high-risk populations such as psychiatry outpatients, when multi-level rather than dichotomous likelihood ratios are used.


Subject(s)
Autism Spectrum Disorder , Psychiatry , Autism Spectrum Disorder/diagnosis , Humans , Outpatients , Psychometrics , Reproducibility of Results , Surveys and Questionnaires
5.
Compr Psychiatry ; 96: 152148, 2020 01.
Article in English | MEDLINE | ID: mdl-31756584

ABSTRACT

OBJECTIVE: The Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version (K-SADS-PL) is a widely used semi-structured diagnostic interview in child and adolescent psychiatry. However, given the extensive use of the K-SADS-PL in clinical practice and research and its adaptation for use in many languages and cultures, validation studies of the instrument are scarce. This study was designed to examine the inter-rater reliability, criterion validity and construct validity of the updated instrument, the K-SADS-PL for DSM-5, in Japanese outpatients totaling 95 children and adolescents. METHOD: We translated and adapted the updated instrument into Japanese using a standard forward-backward translation procedure. Two of nine experienced clinicians independently made diagnoses using the interview for each patient in a conjoint session. Discrepancies in diagnosis between two clinicians were resolved by consensus, and the consensus diagnosis was compared with a "best-estimate" diagnosis made by five experienced clinicians using all available data sources for patients who were blinded to the diagnosis using the K-SADS-PL for DSM-5. The "best-estimate" diagnosis of ASD was also based on the Diagnostic Interview for Social and Communication Disorders. RESULTS: The inter-rater reliability was very good, as shown by κ ≥ 0.8 for all disorders examined: autism spectrum disorder (ASD), attention-deficit hyperactivity disorder, tic disorders, selective mutism, enuresis and encopresis. The criterion validity was good, as shown by κ ≥ 0.6 for all disorders examined, except for ASD (κ = 0.59). This study also revealed good construct validity of the instrument by confirming the expected associations with each scale from the Social Responsiveness Scale-2nd edition and the Strengths and Difficulties Questionnaire. CONCLUSION: These results suggest that the K-SADS-PL for DSM-5 generates valid diagnoses in child and adolescent psychiatry.


Subject(s)
Autism Spectrum Disorder/diagnosis , Child Behavior Disorders/diagnosis , Psychiatric Status Rating Scales , Adolescent , Child , Diagnostic and Statistical Manual of Mental Disorders , Female , Humans , Japan , Male , Outpatients , Reproducibility of Results , Translations
6.
Sci Rep ; 8(1): 776, 2018 01 15.
Article in English | MEDLINE | ID: mdl-29335497

ABSTRACT

We have studied the magneto-optical spectra of ultrathin magnetic films deposited on Si substrates coated with an oxide layer (SiOx). We find that the Kerr rotation angle and the ellipticity of ~1 nm thick CoFeB thin films, almost transparent to visible light, show a strong dependence on the thickness of the SiOx layer. The Kerr signal from the 1 nm CoFeB thin film can be larger than that of ~100 nm thick CoFeB films for a given SiOx thickness and light wavelength. The enhancement of the Kerr signal occurs when optical interference takes place within the SiOx layer. Interestingly, under such resonance condition, the measured Kerr signal is in some cases larger than the estimation despite the good agreement of the measured and calculated reflection amplitude. We infer the discrepancy originates from interface states that are distinct from the bulk characteristics. These results show that optical interference effect can be utilized to study the magneto-optical properties of ultrathin films.

8.
Nat Mater ; 16(1): 109-114, 2017 01.
Article in English | MEDLINE | ID: mdl-27723739

ABSTRACT

Metallic conduction generally requires high carrier concentration and wide bandwidth derived from strong orbital interaction between atoms or molecules. These requisites are especially important in organic compounds because a molecule is fundamentally an insulator; only multi-component salts with strong intermolecular interaction-namely, only charge transfer complexes and conducting polymers-have demonstrated intrinsic metallic behaviour. Herein we report a single-component electroactive molecule, zwitterionic tetrathiafulvalene(TTF)-extended dicarboxylate radical (TED), exhibiting metallic conduction even at low temperatures. TED exhibits d.c. conductivities of 530 S cm-1 at 300 K and 1,000 S cm-1 at 50 K with copper-like electronic properties. Spectroscopic and theoretical investigations of the carrier-generation mechanism and the electronic states of this single molecular species reveal a unique electronic structure with a spin-density gradient in the extended TTF moieties that becomes, in itself, a metallic state.

9.
No To Hattatsu ; 47(3): 220-4, 2015 May.
Article in Japanese | MEDLINE | ID: mdl-26211345
10.
J Nanosci Nanotechnol ; 14(6): 4449-54, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24738411

ABSTRACT

Highly soluble conductive polyanilines were synthesized from newly designed aniline derivatives: 2,5-bis(2-methoxyethoxy)aniline (2) and 2,5-bis[2-(2-methoxyethoxy)ethoxy]aniline (3). The corresponding polyanilines, P2 and P3, were characterized by means of fourier transform infrared (FT-IR), thermogravimetric analysis (TGA), and UV-VIS-NIR spectroscopies. The electrical conductivities at room temperature of emeraldine salt forms of P2 (P2-ES) and P3 (P3-ES) were evaluated to be sigma(rt) = 2.4 x 10(-3) and 1.7 x 10(-3) S/cm, respectively. The length of ethylene-1,2-dioxy chains on the polyaniline scarcely affected the electronic conductivity. A simple modification at 2,5-positions of aniline by introducing 1,2-ethlenedioxy groups dramatically altered the solubility of polyanilines in common organic solvents and water (400 g/L for P3-ES).


Subject(s)
Aniline Compounds/chemical synthesis , Nanostructures/chemistry , Nanostructures/ultrastructure , Organic Chemicals/chemistry , Solvents/chemistry , Water/chemistry , Crystallization/methods , Electric Conductivity , Materials Testing , Particle Size , Solubility , Surface Properties
11.
Chem Commun (Camb) ; 50(54): 7111-3, 2014 Jul 11.
Article in English | MEDLINE | ID: mdl-24671281

ABSTRACT

Ammonium tetrathiapentalene carboxylate [(TTPCOO)2NH4] was prepared via protonic defect-induction doping without electrochemical oxidation. The high electric conductivity of 13 S cm(-1) and Pauli paramagnetic-like behavior of magnetic susceptibility in a wide temperature range exhibit a melting of the charge degrees of freedom induced by a mobile dopant in a salt bridge. Solid-state (1)H NMR strongly indicates a stable metallic state of this compound down to 4 K.

12.
J Autism Dev Disord ; 44(5): 993-1007, 2014 May.
Article in English | MEDLINE | ID: mdl-24342972

ABSTRACT

We comprehensively compared all available questionnaires for measuring quantitative autistic traits (QATs) in terms of reliability and construct validity in 3,147 non-clinical and 60 clinical subjects with normal intelligence. We examined four full-length forms, the Subthreshold Autism Trait Questionnaire (SATQ), the Broader Autism Phenotype Questionnaire, the Social Responsiveness Scale2-Adult Self report (SRS2-AS), and the Autism-Spectrum Quotient (AQ). The SRS2-AS and the AQ each had several short forms that we also examined, bringing the total to 11 forms. Though all QAT questionnaires showed acceptable levels of test-retest reliability, the AQ and SRS2-AS, including their short forms, exhibited poor internal consistency and discriminant validity, respectively. The SATQ excelled in terms of classical test theory and due to its short length.


Subject(s)
Autistic Disorder/physiopathology , Surveys and Questionnaires , Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Phenotype , Psychometrics/statistics & numerical data , Reproducibility of Results , Self Report , Young Adult
13.
Dalton Trans ; 42(11): 3821-6, 2013 Mar 21.
Article in English | MEDLINE | ID: mdl-23302820

ABSTRACT

A single crystal of anilinium tetrathiafulvalene-2-carboxylate exhibits a characteristic electrical conduction; it is a semiconductor with activation-type transport above 200 K; σ(rt) = 0.16 S cm(-1) with an activation energy of 0.11 eV. On the other hand, below 200 K, it does not obey the Arrhenius relation but is conductive even at 4 K with 2.1 × 10(-4) S cm(-1) at a frequency of 2 MHz. Its behavior exhibits strong frequency dependence and suggests a particular conduction coupled with dielectric relaxation, reflecting its ionic nature. The crystal structure of the salt shows that conducting molecules are assembled supramolecularly with multiple nonbonding interactions, such as the hydrogen bond, and the π/π and CH/π interactions. The hydrogen bond and CH/π interactions have a short bond length, which is similar to the charge-assisted-type interaction observed in organometallics.

14.
J Hum Genet ; 54(12): 721-6, 2009 Dec.
Article in English | MEDLINE | ID: mdl-19893580

ABSTRACT

Results of twin studies have shown that autism spectrum disorders (ASDs) are attributable to complex multigenic interactions rather than to a single susceptibility gene. However, the growing number of distinct, individually rare genetic causes of ASDs, mostly copy number variations (CNVs), favors an alternative to the polygenic hypothesis, the two-component model, which suggests that ASDs are caused either by de novo mutation or by dominant inheritance from asymptomatic carriers of such a mutation. To verify this hypothesis, we estimated the distribution of ASD-risk among both catchment area-based families and multiplex families. Our results suggest that the models with more than three risk components are preferable to the two-component model. Our results also suggest that the largest proportion of ASD cases is caused by dominant inheritance. We additionally show that Supplementary information regarding prevalence has a crucial role in analyzing proband-ascertained data.


Subject(s)
Algorithms , Child Development Disorders, Pervasive/genetics , Models, Genetic , Child, Preschool , Family Health , Female , Gene Frequency , Genes, Dominant , Genetic Predisposition to Disease , Humans , Infant , Male , Risk Factors , Siblings
15.
J Hum Genet ; 54(1): 56-61, 2009 Jan.
Article in English | MEDLINE | ID: mdl-19158814

ABSTRACT

Although there is accumulating evidence that intelligence quotient (IQ) indexes some aspects of the autistic spectrum disorders (ASDs), the causal relationship between autistic traits and IQ remains controversial. We examined the sources of covariation between autistic traits and IQ. As males have a four times greater risk of ASDs than females, gender-specific effects were also explored. Autistic traits and IQ were assessed in 45 twin male-male, female-female and opposite-sex pairs ascertained by the regional screening system in Nagoya, Japan. Sex-limited Cholesky structural equation models were used to decompose the correlations between autistic traits and IQ into genetic and environmental components, including sex-specific factors. Genetic correlations between autistic traits and IQ were high and not significantly different between boys and girls (-0.94 and -0.95, respectively), but genetic factors underlying the autistic traits were not entirely shared with the IQ. The individual-specific environmental correlation between autistic traits and IQ was estimated at -0.29 for boys and -0.59 for girls. There is a substantial overlap between the genetic factors that influence individual variation in autistic traits and IQ, irrespective of gender. The individual life experiences that increase autistic traits, however, have a moderate overlap with those that contribute to individual IQs.


Subject(s)
Autistic Disorder/genetics , Genetics, Population , Intelligence Tests , Quantitative Trait, Heritable , Twins/genetics , Child , Female , Humans , Male , Models, Genetic
16.
Am J Med Genet B Neuropsychiatr Genet ; 147B(6): 844-9, 2008 Sep 05.
Article in English | MEDLINE | ID: mdl-18361421

ABSTRACT

An investigation of genetic structures underlying autistic traits was performed with samples from twins for which at least one proband had been ascertained as having autism spectrum disorders (ASDs) in our catchment area. In order to adjust for recent concepts of autism, we employed criteria for the broad spectrum of disease and the childhood autism rating scale (CARS) for quantitative assessment. The CARS test was performed on 45 twin pairs (19 monozygotic, 26 dizygotic) detected with a regional routine screening system. The obtained CARS scores were subjected to structural equation modeling (SEM), incorporating sex differences for each causal influence ascertainment correction, using the Mx software. A best fitting model of causal influences on autistic traits measured continuously, incorporating additive genetic (A) and non-shared environmental influences (E), was generated. With this AE model, the estimated heritability was 0.73 for males and 0.87 for females, based on the continuous CARS scores. There was no evidence for the existence of sex-specific genetic influences. Autistic traits were highly heritable in twins with even broad spectrum of autism, corresponding to the results of early studies based on classical autism. Additive genetic factors were more influential in females than males.


Subject(s)
Autistic Disorder/genetics , Genetic Predisposition to Disease , Twins/genetics , Autistic Disorder/diagnosis , Child, Preschool , Female , Humans , Infant , Intelligence Tests , Male , Models, Theoretical , Research Design , Twinning, Monozygotic/genetics , Twins, Dizygotic/genetics
18.
Biochem Genet ; 45(9-10): 713-24, 2007 Oct.
Article in English | MEDLINE | ID: mdl-17876700

ABSTRACT

The single-strand conformation polymorphism (SSCP) procedure has been applied in routine testing for hereditary diseases. Temperature, running buffer, gel composition, and fragment length can influence its sensitivity. Mutation detection in the clinical setting depends on the development of automated technology, especially for large genes, such as the dihydropyrimidine dehydrogenase (DPYD) gene, which codes the initial, rate-limiting enzyme in the catabolism of 5-fluorouracil (5FU). The authors have optimized the condition of SSCP with an automated system (GenePhor system, GE Healthcare UK Ltd.) to screen genetic polymorphisms in the DPYD gene. The efficiency of the method was evaluated using 21 positive controls (DNA samples with polymorphisms in the DPYD gene, previously characterized) and DNA samples from 35 Japanese. Results showed that the use of three different running buffers (pH 7.4, 8.3, and 9.0) in combination with other optimized conditions (10% polyacrylamide gel, 60-90 min at constant 900 V at 5 degrees C) resulted in a high polymorphism detection rate (95.3%), which was considered appropriate for routine screening. Therefore, this strategy could be useful for pharmacogenetic studies on 5FU.


Subject(s)
Dihydrouracil Dehydrogenase (NADP)/genetics , Electrophoresis, Polyacrylamide Gel/methods , Polymorphism, Single-Stranded Conformational , Base Sequence , DNA Primers/genetics , Dihydropyrimidine Dehydrogenase Deficiency/enzymology , Dihydropyrimidine Dehydrogenase Deficiency/genetics , Electrophoresis, Polyacrylamide Gel/statistics & numerical data , Genetic Techniques/statistics & numerical data , Genetics, Population , Humans , Japan , Mutagenesis, Site-Directed , Polymerase Chain Reaction/methods , Polymerase Chain Reaction/statistics & numerical data , Sensitivity and Specificity
19.
Rapid Commun Mass Spectrom ; 21(5): 799-806, 2007.
Article in English | MEDLINE | ID: mdl-17279485

ABSTRACT

Tandem mass spectrometry (MS/MS) has become a prominent method for screening newborns for diseases such as organic acidemia and fatty acid oxidation defects, although current methods cannot separate acylcarnitine isomers. Accurate determination of dicarboxylic acylcarnitines such as methylmalonylcarnitine and glutarylcarnitine has not been carried out, because obtaining standards of these acylcarnitines is difficult. We attempted the individual determinations of acylcarnitines with isomers and dicarboxylic acylcarnitines by applying high-performance liquid chromatography (HPLC). Chromatographic separation was performed by gradient elution using a mixture of 0.08% aqueous ion-pairing agent and acetonitrile as the mobile phase. Mass transitions of m/z 161.8-->84.8 for carnitine and m/z 164.8-->84.8 for deuterated carnitine were monitored in positive ion electrospray ionization mode. One carnitine and 16 acylcarnitines were quantified. The limit of quantitation (LOQ) was 0.1 micromol/L for methylmalonylcarnitine and 0.05 micromol/L for the other acylcarnitines. Intra-day and inter-day coefficients of variance (CVs) were <8.3% and <8.8%, respectively, for all acylcarnitines in serum, and both were <9.2% in urine. Mean recoveries were >90% for all acylcarnitines. Human samples were quantified by this method. After addition of deuterated acylcarnitines as internal standards, acylcarnitines in serum or urine were extracted using a solid-phase extraction cartridge. In healthy adult individuals, isobutyryl-, 2-methylbutyryl- and isovalerylcarnitine were detected in serum and urine. Dicarboxylic acylcarnitines were detected in urine. High concentrations of methylmalonylcarnitine and propionylcarnitine were found in both the serum and the urine of a patient with methylmalonic acidemia. The described HPLC/MS/MS method could separate most acylcarnitine isomers and quantify them, potentially allowing detailed diagnoses and follow-up treatment for those diseases.


Subject(s)
Carnitine/analogs & derivatives , Spectrometry, Mass, Electrospray Ionization , Adult , Carnitine/blood , Carnitine/chemistry , Carnitine/urine , Child, Preschool , Female , Humans , Isomerism , Male , Metabolism, Inborn Errors/blood , Metabolism, Inborn Errors/enzymology , Metabolism, Inborn Errors/urine , Methylmalonic Acid/blood , Methylmalonyl-CoA Mutase/metabolism
20.
Biochim Biophys Acta ; 1772(1): 96-102, 2007 Jan.
Article in English | MEDLINE | ID: mdl-17113761

ABSTRACT

Inosine triphosphate pyrophosphatase (ITPase) catalyzes the conversion of inosine triphosphate (ITP) to the correspondent monophosphate. The ITPA c.94C>A and g.IVS2+21A>C allelic variants are associated with decreased red cell enzyme activity. The ITPA c.94C>A [P32T] sequence variant is associated with an increased risk of adverse drug reactions in patients treated with the thiopurine drug azathioprine. The aim of this study was to explore the molecular mechanisms of ITPase deficiency. ITPA mRNA was extracted from peripheral blood leukocytes (PBL), Epstein-Barr virus transformed lymphoblast cell cultures, reticulocytes, and cultured fibroblast from patients with known ITPA genotypes. ITPA mRNA was reversed transcribed, sequenced and the relative amounts of misspliced transcripts quantitated from three independent experiments. The ITPA g.IVS2+21A>C sequence variant resulted in missplicing of exon 3. The ITPA c.94C>A allelic variant resulted in missplicing of exons 2 and 3 representing, in PBL samples, 61% of the total mRNA expressed in ITPA c.94C>A homozygotes. We proposed that the ITPA c.94C>A allelic variant destroys an exonic splicing silencing (ESS) element in exon 2, resulting in the activation of two nearby upstream 5' splice sites and missplicing of the exons 2 and 3 cassette causing structural changes to the enzyme and contributing to ITPase deficiency.


Subject(s)
Alleles , Drug Hypersensitivity/genetics , Genetic Variation , Pyrophosphatases/genetics , RNA Splicing , Base Sequence , Cells, Cultured , Fibroblasts/metabolism , Humans , Molecular Sequence Data , Pyrophosphatases/biosynthesis , Pyrophosphatases/deficiency , RNA, Messenger/genetics , RNA, Messenger/metabolism
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