This study explored Wilms' tumor 1 (
) mutations in children with, or suspected of having, steroid-resistant nephrotic syndrome (SRNS), referred to or treated in our hospital in the past 6 years as ...well as the correlation between genotype and phenotype in
mutation-associated nephropathy in Chinese patients. In total, 76 patients participated in the study.
mutations were identified in 15 patients, 5 of whom harbored splice-site mutations in intron 9. Four of these 5 patients exhibited early onset of nephropathy and rapid deterioration of renal function. Missense mutations were detected in 8 patients, 4 of whom harbored hot-site mutations and had early-onset proteinuria. Of these 4 patients, rapid progression to end-stage renal disease was only observed in 1. Nonsense mutations were identified in 2 patients; both had a large number of immature glomeruli in the kidney cortex. Calcineurin inhibitors (CNI) were administered in 8 patients. Two patients with missense mutations and 1 patient with a nonsense mutation achieved complete remission. Two patients with missense mutations and 2 with splice-site mutations showed an improvement. One patient with a splice-site mutation showed no changes. In conclusion, a high
mutation rate was observed in this group of SRNS patients. Patients with splice-site mutations experienced a rapid disease progression, and patients harboring nonsense mutations showed a prominent glomerular developmental delay. CNI therapy was effective in patients with
missense mutations and nonsense mutations. .
NPHP1
is the most prevalent genetic factor in the development of juvenile nephronophthisis (NPHP). In our previous study,
NPHP1
homozygous point mutations were detected by Sanger sequencing in three ...cases from two nonconsanguineous pedigrees. However, mutant sites were detected in only one parent from each respective pedigree. To investigate whether other disease-causing mutations were present, targeted exome sequencing (TES) of 63 ciliopathy genes was performed in the probands of the two pedigrees. In addition to the previously detected point mutations, a complete heterozygous deletion of
NPHP1
(1-20 exons) in the other allele was found in each of the three patients. The deletions were inherited from one parent of each pedigree. These is the first report of Chinese NPHP patients harboring a complete heterozygous deletion of
NPHP1
in one allele and a point mutation in the other one. The study demonstrated that TES is helpful in identifying complicated mutations in patients with NPHP.
Coenzyme Q10 (CoQ10) is involved in the biosynthesis of adenosine triphosphate (ATP), and is most abundant in the mitochondrial membrane. The primary CoQ10 deficiency caused by COQ2 defect is mostly ...manifested as encephalopathy, encephalopathy with nephropathy, and rarely as an isolated nephrotic syndrome.
Clinical and pathological data and peripheral blood samples of 2 siblings with steroid-resistant nephrotic syndrome (SRNS) and their family members of a Chinese pedigree were collected. DNA was extracted and subjected to next-generation sequencing of target genes of hereditary nephropathy.
Compound heterozygous mutations of COQ2 (c.1058A > G, p.Y353C, paternal and c.973A > G, p.T325A, maternal)were identified in both siblings of the pedigree. Mutation of p.Y353C was novel. The proband was a girl, who presented with SRNS at the age of 7 months. CoQ10 was administered after the gene sequencing results came out. Proteinuria decreased gradually to 1+, occasionally negative. The child was normal in growth and intelligence. She is now 4 years old. The second patient was her elder brother. He was found to have SRNS at the age of 2 years old. Renal pathology indicated focal segmental glomerulosclerosis (FSGS). Electronic microcopy revealed that a large quantity of mitochondria with normal contour was accumulated within the podocytes. Both patients were in normal intelligence without convulsion.
The 2 cases harboring COQ2compound heterozygous mutations presented with isolated SRNS, with a renal pathology of FSGS and a large quantity of mitochondria with normal contour accumulated within the podocytes. CoQ10 was efficacy in eliminating proteinuria.
Stable operation of the DC-SRF photoinjector Quan, Shengwen; Hao, Jiankui; Lin, Lin ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
10/2015, Letnik:
798
Journal Article
Recenzirano
To obtain low-emittance electron beams with high average current, superconducting radio frequency photocathode guns have been developed by several laboratories worldwide. A DC-SRF injector, which ...combines a DC pierce gun and a superconducting cavity, has been developed at Peking University. Recently, stable operation of the DC-SRF photoinjector has produced encouraging results. The average beam current of 1mA in macropulses of 7ms with a repetition rate of 10Hz has been reached and can be kept at about 0.5mA for routine operation. In this paper, we describe the DC-SRF photoinjector and will discuss the experiments and the test results.
We present the first use of a tunable superconducting radio frequency cavity to perform a scan search for dark photon dark matter with novel data analysis strategies. We mechanically tuned the ...resonant frequency of a cavity embedded in the liquid helium with a temperature of \(2\) K, scanning the dark photon mass over a frequency range of \(1.37\) MHz centered at \(1.3\) GHz. By exploiting the superconducting radio frequency cavity's considerably high quality factors of approximately \(10^{10}\), our results demonstrate the most stringent constraints to date on a substantial portion of the exclusion parameter space, particularly concerning the kinetic mixing coefficient between dark photons and electromagnetic photons \(\epsilon\), yielding a value of \(\epsilon < 2.2 \times 10^{-16}\).
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