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Background: Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy.
Results: We describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of whom 29 previously unpublished. We found 34 known and 18 previously unreported variants in ACAD9. No patients harbored biallelic loss of function mutations, indicating that this combination is unlikely to be compatible with life. Causal pathogenic variants were distributed throughout the entire gene, and there was no obvious genotype-phenotype correlation.
Most of the patients presented in the first year of life. For this subgroup the survival was poor (50% not surviving the first 2 years) comparing to patients with a later presentation (more than 90% surviving 10 years). The most common clinical findings were cardiomyopathy (85%), muscular weakness (75%) and exercise intolerance (72%). Interestingly, severe intellectual deficits were only reported in one patient and severe developmental delays in four patients. More than 70% of the patients were able to perform the same activities of daily living when compared to peers.
Conclusions: Our data show that riboflavin treatment improves complex I activity in the majority of patient-derived fibroblasts tested. This effect was also reported for most of the treated patients and is mirrored in the survival data. In the patient group with disease-onset below 1 year of age, we observed a statistically-significant better survival for patients treated with riboflavin.
Using 7.33 fb−1 of e+e− collision data collected by the BESIII detector at center-of-mass energies between 4.128 and 4.226~GeV, we observe for the first time the decay D±s→ωπ±η with a statistical significance of 7.6σ. The measured branching fraction of this decay is (0.54±0.12±0.04)%, where the first uncertainty is statistical and the second is systematic.
By analyzing the large-angle Bhabha scattering events e+e− → (γ)e+e− and diphoton events e+e− → (γ)γγ for the data sets collected at center-of-mass (c.m.) energies between 2.2324 and 4.5900 GeV (131 energy points in total) with the upgraded Beijing Spectrometer (BESIII) at the Beijing Electron-Positron Collider (BEPCII), the integrated luminosities have been measured at the different c.m. energies, individually. The results are important inputs for the R value and J/ψ resonance parameter measurements.
We search for the semi-leptonic decays Λ + c → Λπ+π−e+νe and Λ + c → pK0 Sπ−e+νe in a sample of 4.5 fb−1 of e+e− annihilation data collected in the center-of-mass energy region between 4.600 GeV and 4.699 GeV by the BESIII detector at the BEPCII. No significant signals are observed, and the upper limits on the decay branching fractions are set to be B(Λ+c → Λπ+π−e+νe ) < 3.9 × 10−4 and B(Λ + c → pK0Sπ−e+νe ) < 3.3 × 10−4 at the 90% confidence level, respectively.
Based on 4.5 fb−1 data taken at seven center-of-mass energies ranging from 4.600 to 4.699 GeV with the BESIII detector at the BEPCII collider, we measure the branching fractions of Λ + c → Σ + + hadrons relative to Λ + c → Σ +π +π −. Combining with the world average branching fraction of Λ + c → Σ +π +π −, their branching fractions are measured to be (0.377 ± 0.042 ± 0.020 ± 0.021)% for Λ + c → Σ +K+K−, (0.200 ± 0.023 ± 0.011 ± 0.011)% for Λ + c → Σ+K+π−, (0.414 ± 0.080 ± 0.030 ± 0.023)% for Λ + c → Σ +φ and (0.197 ± 0.036 ± 0.009 ± 0.011)% for Λ + c → Σ +K+K−(non-φ). In all the above results, the first uncertainties are statistical, the second are systematic and the third are from external input of the branching fraction of Λ + c → Σ +π +π −. Since no signal for Λ + c → Σ +K+π−π 0 is observed, the upper limit of its branching fraction is determined to be 0.13% at the 90% confidence level.
With data samples collected with the BESIII detector at seven energy points at √s = 3.68 − 3.71 GeV, corresponding to an integrated luminosity of 333 pb−1, we present a study of the Λ transverse polarization in the e+e− → ΛΛ¯ reaction. The signifcance of polarization by combining the seven energy points is found to be 2.6σ including the systematic uncertainty, which implies a non-zero phase between the transition amplitudes of the ΛΛ¯ helicity states. The modulus ratio and the relative phase of EM-psionic form factors combined with all energy points are measured to be RΨ = 0.71+0.10−0.10 ± 0.03 and ∆ΦΨ = 23+8.8−8.0 ± 1.6◦, where the frst uncertainties are statistical and the second systematic.
Using a data sample of e+e− collision data corresponding to an integrated luminosity of 2.93 fb−1 collected with the BESIII detector at a center-of-mass energy of s=3.773GeV, we search for the singly Cabibbo-suppressed decays D0→π0π0π0, π0π0η, π0ηη and ηηη using the double tag method. The absolute branching fractions are measured to be B(D0→π0π0π0)=(2.0±0.4±0.3)×10−4, B(D0→π0π0η)=(3.8±1.1±0.7)×10−4 and B(D0→π0ηη)=(7.3±1.6±1.5)×10−4 with the statistical significances of 4.8σ, 3.8σ and 5.5σ, respectively, where the first uncertainties are statistical and the second ones systematic. No significant signal of D0→ηηη is found, and the upper limit on its decay branching fraction is set to be B(D0→ηηη)<1.3×10−4 at the 90% confidence level.
The Born cross sections and effective form factors for process 𝑒+𝑒−→Ξ−¯Ξ+ are measured at eight center-of-mass energies between 2.644 and 3.080 GeV, using a total integrated luminosity of 363.9 pb−1 𝑒+𝑒− collision data collected with the BESIII detector at BEPCII. After performing a fit to the Born cross section of 𝑒+𝑒−→Ξ−¯Ξ+, no significant threshold effect is observed.
By analyzing 2.93 fb−1 of data taken at the ψ(3770) resonance peak with the BESIII detector, we measure the branching fractions for the hadronic decays D+ → K0S K0S K +, D+ → K0S K0Sπ+, D0 → K0S K0S and D0 → K0S K0S K0S . They are determined to be B(D+ → K0S K0S K +) = (2.54 ± 0.05stat. ± 0.12sys.) × 10−3, B(D+ → K0S K0Sπ+) = (2.70 ± 0.05stat. ± 0.12sys.) × 10−3, B(D0 → K0S K0S ) = (1.67 ± 0.11stat. ± 0.11sys.) × 10−4 and B(D0 → K0S K0S K0S ) = (7.21 ± 0.33stat. ± 0.44sys.) × 10−4, where the second one is measured for the first time and the others are measured with significantly improved precision over the previous measurements.