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1.
Opt Lett ; 49(2): 399-402, 2024 Jan 15.
Article in English | MEDLINE | ID: mdl-38194578

ABSTRACT

For a Rydberg atom-based sensor to change its sensing frequency, the wavelength of the Rydberg state excitation laser must be altered. The wavelength shifts required can be on the order of 10 nm. A fast-tunable narrow-linewidth laser with broadband tuning capability is required. Here, we present a demonstration of a laser system that can rapidly switch a coupling laser as much as 8 nm in less than 50 µs. The laser system comprises a frequency-stabilized continuous wave laser and an electro-optic frequency comb. A filter enables selection of individual comb lines. A high-speed electro-optic modulator is used to tune the selected comb line to a specific frequency, i.e., an atomic transition. Through Rydberg atom-based sensing experiments, we demonstrate frequency hopping between two Rydberg states and a fast switching time of 400 µs, which we show can be reduced to ∼50 µs with a ping-pong scheme. If updating the RF frequency is not required during frequency hopping, a 200 ns switching time can be achieved. These results showcase the potential of the laser system for advanced Rydberg atom-based radio frequency sensing applications, like communications and radar.

2.
Phys Rev Lett ; 132(7): 075101, 2024 Feb 16.
Article in English | MEDLINE | ID: mdl-38427884

ABSTRACT

Gyrokinetic simulations of the fishbone instability in DIII-D tokamak plasmas find that self-generated zonal flows can dominate the nonlinear saturation by preventing coherent structures from persisting or drifting in the energetic particle phase space when the mode frequency down-chirps. Results from the simulation with zonal flows agree quantitatively, for the first time, with experimental measurements of the fishbone saturation amplitude and energetic particle transport. Moreover, the fishbone-induced zonal flows are likely responsible for the formation of an internal transport barrier that was observed after fishbone bursts in this DIII-D experiment. Finally, gyrokinetic simulations of a related ITER baseline scenario show that the fishbone induces insignificant energetic particle redistribution and may enable high performance scenarios in ITER burning plasma experiments.

3.
Phys Rev Lett ; 132(1): 017001, 2024 Jan 05.
Article in English | MEDLINE | ID: mdl-38242669

ABSTRACT

The ideal superconductor provides a pristine environment for the delicate states of a quantum computer: because there is an energy gap to excitations, there are no spurious modes with which the qubits can interact, causing irreversible decay of the quantum state. As a practical matter, however, there exists a high density of excitations out of the superconducting ground state even at ultralow temperature; these are known as quasiparticles. Observed quasiparticle densities are of order 1 µm^{-3}, tens of orders of magnitude greater than the equilibrium density expected from theory. Nonequilibrium quasiparticles extract energy from the qubit mode and can induce dephasing. Here we show that a dominant mechanism for quasiparticle poisoning is direct absorption of high-energy photons at the qubit junction. We use a Josephson junction-based photon source to controllably dose qubit circuits with millimeter-wave radiation, and we use an interferometric quantum gate sequence to reconstruct the charge parity of the qubit. We find that the structure of the qubit itself acts as a resonant antenna for millimeter-wave radiation, providing an efficient path for photons to generate quasiparticles. A deep understanding of this physics will pave the way to realization of next-generation superconducting qubits that are robust against quasiparticle poisoning.

4.
Phys Rev Lett ; 132(9): 092501, 2024 Mar 01.
Article in English | MEDLINE | ID: mdl-38489643

ABSTRACT

Three ΔI=1 bands with the πg_{9/2}⊗νg_{9/2} configuration have been identified in _{35}^{74}Br_{39}. Angular distribution, linear polarization, and lifetime measurements were performed to determine the multipolarity, type, mixing ratio, and absolute transition probability of the transitions. By comparing these experimental observations with the corresponding fingerprints and the quantum particle rotor model calculations, the second and third lowest bands are, respectively, suggested as the chiral partner and one-phonon wobbling excitation built on the yrast band. The evidence indicates the first chiral wobbler in nuclei.

5.
Phys Rev Lett ; 132(7): 072502, 2024 Feb 16.
Article in English | MEDLINE | ID: mdl-38427897

ABSTRACT

Using the fusion-evaporation reaction ^{106}Cd(^{58}Ni,4n)^{160}Os and the gas-filled recoil separator SHANS, two new isotopes _{76}^{160}Os and _{74}^{156}W have been identified. The α decay of ^{160}Os, measured with an α-particle energy of 7080(26) keV and a half-life of 201_{-37}^{+58} µs, is assigned to originate from the ground state. The daughter nucleus ^{156}W is a ß^{+} emitter with a half-life of 291_{-61}^{+86} ms. The newly measured α-decay data allow us to derive α-decay reduced widths (δ^{2}) for the N=84 isotones up to osmium (Z=76), which are found to decrease with increasing atomic number above Z=68. The reduction of δ^{2} is interpreted as evidence for the strengthening of the N=82 shell closure toward the proton drip line, supported by the increase of the neutron-shell gaps predicted in theoretical models.

6.
Chemistry ; 30(13): e202303755, 2024 Mar 01.
Article in English | MEDLINE | ID: mdl-38149882

ABSTRACT

A structurally precise hydride-containing Pt-doped Cu-rich nanocluster [PtH2 Cu14 {S2 P(Oi Pr)2 }6 (CCPh)6 ] (1) has been synthesized. It consists of a bicapped icosahedral Cu14 cage that encapsulates a linear PtH2 unit. Upon the addition of two equivalents of CF3 COOH to 1, two hydrido clusters are isolated. These clusters are [PtHCu11 {S2 P(Oi Pr)2 }6 (CCPh)4 ] (2), which is a vertex-missing Cu11 cuboctahedron encaging a PtH moiety, and [PtH2 Cu11 {S2 P(Oi Pr)2 }6 (CCPh)3 ] (3), a distorted 3,3,4,4,4-pentacapped trigonal prismatic Cu11 cage enclosing a PtH2 unit. The electronic structure of 2, analyzed by Density Functional Theory, is a 2e superatom. The electrocatalytic activities of 1-3 for hydrogen evolution reaction (HER) were compared. Notably, Cluster 2 exhibited an exceptionally excellent HER activity within metal nanoclusters, with an onset potential of -0.03 V (at 10 mA cm-2 ), a Tafel slope of 39 mV dec-1 , and consistent HER activity throughout 3000 cycles in 0.5 M H2 SO4 . Our study suggests that the accessible central Pt site plays a crucial role in the remarkable HER activity and may provide valuable insights for establishing correlations between catalyst structure and HER activity.

7.
Inorg Chem ; 63(12): 5320-5324, 2024 Mar 25.
Article in English | MEDLINE | ID: mdl-38468603

ABSTRACT

A unique assembly of a two-electron superatom, [Ag10{S2P(OiPr)2}8], as a primary building unit in the construction of a supramolecule [Ag10{S2P(OiPr)2}8]2(µ-4,4'-bpy) through a 4,4'-bipyridine (4,4'-bpy) linker is reported. This approach is facilitated by an open site in the structure that allows for effective pairing. The assembled structure demonstrates a minimal solvatochromic shift across organic solvents with variable polarities, highlighting the influence of self-assembly on the photophysical properties of silver nanoclusters.

8.
Inorg Chem ; 63(5): 2766-2775, 2024 Feb 05.
Article in English | MEDLINE | ID: mdl-38253002

ABSTRACT

The first hydride-doped Pd/Ag superatoms stabilized by selenolates are reported: [PdHAg19(dsep)12] [dsep = Se2P(OiPr)2] 1 and [PdHAg20(dsep)12]+ 2. 1 was derived from the targeted transformation of [PdHAg19(dtp)12] [dtp = S2P(OiPr)2] by ligand exchange, whereas 2 was obtained from the addition of trifluoroacetic acid to 1, resulting in a symmetric redistribution of the capping silver atoms. The transformations are all achieved while retaining an 8-electron superatomic configuration. VT-NMR attests to the good stability of the NCs in solution, and single-crystal X-ray diffraction reveals the crucial role that the interstitial hydride plays in directing the position of the capping silver atoms. The total structures are reported alongside their electronic and optical properties. 1 and 2 are phosphorescent with a lifetime of 73 and 84 µs at 77 K, respectively. The first antibacterial activity data for superatomic bimetallic Pd/Ag nanoclusters are also reported.

9.
Article in English | MEDLINE | ID: mdl-39031515

ABSTRACT

OBJECTIVE: To investigate the trimester-specific associations between maternal total physical activity level vs moderate-to-vigorous exercise and fetal growth disorders. METHODS: We analyzed 2062 mother-neonate pairs participating in the longitudinal China Medical University Birth Cohort Study. The Pregnancy Physical Activity Questionnaire was used to assess the physical activity level of women during the three trimesters. A higher level of total physical activity was defined as meeting or exceeding the cohort-specific 75th percentile, and a higher level of exercise was defined according to the Physical Activity Guidelines for Americans. Fetal growth disorder was defined as small-for-gestational age (SGA) or large-for-gestational age (LGA) at birth. RESULTS: Of the neonates included in this study, 7.1% were SGA and 15.5% were LGA. A higher level of total physical activity during the first trimester (adjusted relative risk (aRR), 0.62 (95% CI, 0.42-0.91)) and second trimester (aRR, 0.62 (95% CI, 0.41-0.95)) was associated with a lower risk of SGA, and a higher level of total physical activity during the third trimester was associated with a lower risk of LGA (aRR, 0.73 (95% CI, 0.54-0.97)). When analyzing physical activity by subtype, a higher level of occupational physical activity during the first and second trimesters was associated negatively with SGA risk, and higher levels of occupational and low-intensity physical activity during the first trimester were associated negatively with LGA risk. No significant association was found between maternal adherence to the Physical Activity Guidelines for Americans and risk of fetal growth disorders. CONCLUSIONS: A higher total physical activity level during the first and second trimesters was associated with a decreased risk of SGA, whereas a higher total physical activity level in the third trimester was associated with a decreased risk of LGA. Pregnant women should be advised to increase their total physical activity levels instead of focusing on engaging in only moderate-to-vigorous exercise. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.

10.
J Endocrinol Invest ; 47(7): 1763-1776, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38512446

ABSTRACT

PURPOSE: To investigate how sleeve gastrectomy (SG), a typical operation of bariatric surgery, attenuated symptom, and progression of diabetic kidney disease (DKD). METHODS: DKD model was induced by high-fat diet (HFD) combined with streptozocin in Wistar rats. SG was performed, and the group subjected to sham surgery served as control. The animals were euthanized 12 weeks after surgery, followed by sample collection for the subsequent experiment. The HK-2, a renal proximal tubular epithelial cell line derived from human, was utilized to investigate the potential mechanisms. RESULTS: SG improved metabolic parameters and glucose homeostasis, and could alleviate DKD in terms of renal function indices as well as histological and morphological structures in DM rats, accompanied with a significant reduction in renal tubular injury. Compared with sham group, SG reduced the renal tubular ferroptosis. To further clarify the mechanism involved, in vitro experiments were performed. In the presence of high glucose, renal tubular TGF-ß1 secretion was significantly increased in HK-2 cell line, which led to activation of ferroptosis through TGF-ß1/Smad3 signaling pathway. Inhibition of TGF-ß1 receptor and phosphorylation of Smad3 significantly ameliorated TGF-ß1-mediated ferroptosis. In vivo experiments also found that SG improved the hyperglycemic environment, reduced renal TGF-ß1 concentrations, and down-regulated the TGF-ß1/Smad3 signaling pathway. CONCLUSIONS: With the capacity to lower the glucose, SG could attenuate the ferroptosis by inhibiting TGF-ß1/Smad3 signaling pathway in DKD rats, and eventually attenuated DKD.


Subject(s)
Diabetes Mellitus, Experimental , Diabetic Nephropathies , Ferroptosis , Gastrectomy , Rats, Wistar , Signal Transduction , Smad3 Protein , Transforming Growth Factor beta1 , Animals , Diabetic Nephropathies/metabolism , Diabetic Nephropathies/pathology , Diabetic Nephropathies/etiology , Diabetic Nephropathies/prevention & control , Rats , Transforming Growth Factor beta1/metabolism , Smad3 Protein/metabolism , Signal Transduction/physiology , Male , Gastrectomy/methods , Ferroptosis/drug effects , Ferroptosis/physiology , Humans , Diabetes Mellitus, Experimental/metabolism , Diabetes Mellitus, Experimental/pathology , Down-Regulation , Kidney Tubules/pathology , Kidney Tubules/metabolism , Diet, High-Fat/adverse effects
11.
Oral Dis ; 2024 Jan 29.
Article in English | MEDLINE | ID: mdl-38287488

ABSTRACT

OBJECTIVE: This study aimed to enhance the quintessential "five temporomandibular disorder (TMD) symptoms" (5Ts) screener by incorporating frequency options and distinguishing between TMJ and muscle pain. The diagnostic accuracy along with cut-off points for the effective identification of TMDs was also established. METHODS: Participants, aged ≥18 years, were recruited from a university-based hospital. After completing surveys encompassing demographic data and the enhanced 5Ts (with frequency options [5Ts-F] and differentiation of TMJ/muscle pain [6Ts-F]), protocolized interviews and clinical examinations were performed following DC/TMD. The diagnostic accuracy and best cut-off points were determined with the area under the receiver operating characteristic curves (AUCs). RESULTS: 324 participants were recruited (mean age 30.0 ± 11.4 years). Among these, 86.4% had TMDs. 5Ts exhibited high diagnostic accuracy for detecting all TMDs (AUC = 0.92) with sensitivity/specificity values of 83.9%/88.6%. Both 5Ts-F and 6Ts-F had slightly better accuracy (AUCs = 0.95/0.96), comparable sensitivity, and superior specificity (97.7%) compared to 5Ts. The best cut-off points were 1.5 for 5Ts and 2.5 for 5Ts-F/6Ts-F. CONCLUSIONS: Although all three TMD screeners presented high diagnostic accuracy, 5Ts-F/6Ts-F had notably improved specificity. 5Ts scores of >1.5 and 5Ts-F/6Ts-F scores of >2.5 are to be applied for screening the presence of TMDs.

12.
Rhinology ; 2024 Aug 01.
Article in English | MEDLINE | ID: mdl-39066656

ABSTRACT

BACKGROUND: Posterior nasal neurectomy (PNN) is a commonly employed surgical approach for the treatment of allergic rhinitis (AR). Due to its denervation effect on the nasal mucosa, PNN may potentially alter the motion and defensive capability of cilia. Previous research on the effects of neural regulation and denervation on cilia has been limited by the absence of a feasible in vivo evaluation method for assessing ciliary function. METHODOLOGY: Utilizing a new system developed by our team for visualizing and analyzing ciliary motion in vivo, we analysed ciliary beat frequency and distance in vivo and histomorphological changes in a murine PNN and AR model. Ovalbumin, histamine and neurotransmitters (acetylcholine chloride, α receptor agonist and ß receptor agonist) were applied to investigate the responsiveness and neural regulation of the nasal mucosa. RESULTS: Denervation resulting from PNN led to a reduction in nasal ciliary beat frequency (CBF) to 78% of the control, as well as diminished response towards allergens and histamine. Among neurotransmitters examined, α receptor agonists exhibited inhibitory effects on in vivo ciliary motion while acetylcholine and ß receptor agonists demonstrated stimulatory effects. PNN did not affect the reactivity of in vivo cilia towards these neurotransmitters. CONCLUSIONS: PNN-induced denervation can reduce ciliary motion, potentially compromising the defensive capability of nasal mucosa. Neural regulation and the neurotransmitters involved have significant effect on ciliary motion.

13.
J Clin Ultrasound ; 52(6): 667-674, 2024.
Article in English | MEDLINE | ID: mdl-38581196

ABSTRACT

OBJECTIVE: The aim of this study was to investigate the value of Broncoplasma Insufflation Sign in lung ultrasound signs in assessing the efficacy of bronchoalveolar lavage in severe Mycoplasma pneumoniae pneumonia in children. METHODS: Forty-seven children with severe Mycoplasma pneumoniae pneumonia were treated with medication and bronchial lavage. Laboratory and imaging results were collected, and lung ultrasonography was performed before bronchoalveolar lavage and 1, 3, and 7 days after lavage to record changes in Bronchial Insufflation Sign and changes in the extent of solid lung lesions. Factors affecting the effectiveness of bronchoalveolar lavage were analyzed using logistic regression and other factors. RESULTS: Bronchial Insufflation Sign Score and the extent of lung solid lesions were the factors affecting the effectiveness of bronchoalveolar lavage treatment. The smaller the area of lung solid lesions and the higher the Bronchial Insufflation Sign Score, the more effective the results of bronchoalveolar lavage treatment were, and the difference was statistically significant, with a difference of p < 0.05. The Bronchial Insufflation Sign Score had the highest sensitivity and specificity for the prediction of the efficacy of bronchoalveolar lavage treatment in the first 7 days after the treatment. CONCLUSION: Bronchial Insufflation Sign Score combined with the extent of solid lung lesions can assess the efficacy of bronchoalveolar lavage in the treatment of severe Mycoplasma pneumoniae pneumonia in children; lung ultrasound is a timely and effective means of assessing the efficacy of bronchoalveolar lavage.


Subject(s)
Bronchoalveolar Lavage , Lung , Pneumonia, Mycoplasma , Ultrasonography , Bronchoalveolar Lavage/methods , Mycoplasma pneumoniae , Pneumonia, Mycoplasma/diagnostic imaging , Pneumonia, Mycoplasma/therapy , Lung/diagnostic imaging , Humans , Female , Infant , Child, Preschool , Child , Ultrasonography/methods , Treatment Outcome , Insufflation , Sensitivity and Specificity
14.
Br Poult Sci ; : 1-8, 2024 Jul 12.
Article in English | MEDLINE | ID: mdl-38995225

ABSTRACT

1. This trial investigated the effect on embryo injected with ochratoxin A (OTA) and the growth performance, jejunal morphology and barrier of ducklings to 21 d old.2. Two hundred forty, fertilised eggs were individually weighed and randomly assigned to two groups, a control (CON) and the OTA treatment, according to average egg weight. On d 13 of embryonic development, the treatment group was injected with 8 ng OTA/g egg and the CON group was injected with NaHCO3 solution as a placebo. All newly hatched ducklings were assigned to the CON or OTA group based on the different treatments. Each treatment consisted of six replicates and each included 10 ducklings and the experiment lasted until 21 d of age.3. The results showed that embryos injected with OTA affected the 21 d body weight (BW) and average daily gain (ADG) of ducklings (p < 0.05). OTA exposure increased the relative weights of the liver, pancreas, gizzard, proventriculus and jejunum (p < 0.05); and decreased the relative length of the jejunum of ducklings (p < 0.05). Moreover, jejunal crypt depth increased (p < 0.05) and the villus height-to-crypt depth ratio (Vh/Cd) decreased in the OTA-injected group (p < 0.05). Compared with those in the CON group, the mRNA expression of Zonula Occludens-1; (ZO-1) (p = 0.0582) and Occludin; (p = 0.0687) in the OTA treatment group was downregulated.4. The findings demonstrated that a single low-dose injection of OTA increased body weight and daily gain in ducklings. Moreover, embryo exposure to OTA had negative effects with increased relative weight of organs and the jejunal crypt depth, decreased relative length of the intestine and mRNA expression of tight junctions (ZO-1, Occludin).

15.
Rev Neurol (Paris) ; 2024 May 07.
Article in English | MEDLINE | ID: mdl-38719768

ABSTRACT

BACKGROUND: Clopidogrel resistance (CR) is associated with adverse clinical outcomes in acute ischemic stroke or transient ischemic attack (TIA) patients. However, whether CR affects the long-term clinical prognosis remains to be clarified. The ABCD-GENE score is a novel risk model that identifies CR in cardiovascular disease patients; its diagnostic ability and application in ischemic stroke or TIA remain to be studied. This study aimed to investigate the diagnostic ability of the ABCD-GENE score for CR and analyze the relationship between CR and long-term clinical prognosis in patients with ischemic stroke or TIA. METHODS: From January 2018 to January 2021, 251 ischemic stroke or TIA patients who were treated with clopidogrel for more than three months after onset and maintained the medication until the follow-up time were enrolled, and platelet reactivity was detected by thromboelastography. CYP2C19 gene analysis was performed. Adverse clinical outcomes were recorded from 3months after onset. The median follow-up time was 878days. RESULTS: The prevalence of CR was 33.9%. The proportion of CYP2C19 loss-of-function carriers was 62.2%. The ABCD-GENE score≥10 was independently associated with CR (OR=1.82, 95% CI: 1.02-3.24, P=0.041), and the C-statistic value of the score (as a binary and integer variable) on CR was 0.58 and 0.63, respectively. The risk of long-term adverse clinical outcomes was not significantly different between CR and clopidogrel sensitive groups (12.94% vs. 11.44%, HR=1.22, 95% CI: 0.57-2.62, P=0.603). A similar result was observed between ABCD-GENE score≥10 and ABCD-GENE score<10 groups (10.38% vs. 12.64%, HR=1.19, 95% CI: 0.55-2.60, P=0.666). CONCLUSIONS: In ischemic stroke or TIA patients, the ABCD-GENE score could identify the risk of CR. CR was not associated with long-term adverse clinical outcomes.

16.
Zhonghua Nei Ke Za Zhi ; 63(1): 74-80, 2024 Jan 01.
Article in Zh | MEDLINE | ID: mdl-38186121

ABSTRACT

Objective: To compare the short-term efficacy and the safety of microwave ablation (MWA) and radiofrequency ablation (RFA) in the treatment of benign thyroid nodules (BTNs). Methods: This prospective randomized controlled trial, performed from December 2019 to September 2021, included 36 patients with solid or predominantly solid BTNs who met the eligibility criteria and provided written informed consent at the Nanjing sub-center (Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine). Patients were assigned to either the MWA group or the RFA group (18 patients in each group) at a ratio of 1∶1 using a block randomization design and allocation concealment using sealed envelope randomization. The independent-sample t-test and χ2 test were used to compare the volume reduction rates (VRRs), effective rates (VRRs≥50%), cosmetic scores, and complication rates at 1, 3, and 6 months after treatment between the two groups. Results: The clinical characteristics of the two groups of patients were comparable. After ablation, the nodule volume was significantly reduced in both groups. At 1, 3, and 6 months, there was no significant difference in the volume between the two groups (all P>0.05). At 3 months, the RFA group had a larger VRRs than that in the MWA group (62.08%±12.46% vs. 46.90%±23.16%, t=-2.45, P=0.021). However, at 1 and 6 months, no statistical significance was observed (both P>0.05). No significant difference was observed in the effective rates at the last follow-up (14/18 vs. 18/18, P=0.104). However, the RFA group had a lower cosmetic score than that in the MWA group (1.78±0.43 vs. 2.17±0.51, t=-2.47, P=0.019). There was no statistically significant difference in the complication rates between the two groups (all P>0.05). Conclusions: Both MWA and RFA were effective and safe treatments for BTNs, with no significant differences in short-term efficacy and safety. In addition, the RFA group showed slightly more favorable outcomes than the MWA group in terms of cosmetic improvement.


Subject(s)
Radiofrequency Ablation , Thyroid Nodule , Humans , Microwaves , Prospective Studies , Thyroid Nodule/surgery , Hospitals
17.
Zhonghua Yi Xue Za Zhi ; 104(26): 2438-2444, 2024 Jul 09.
Article in Zh | MEDLINE | ID: mdl-38978368

ABSTRACT

Objective: To evaluate the application of whole exome sequencing (WES) in the diagnosis of hereditary eye diseases. Methods: A total of 24 patients who came to the Obstetrics and Gynecology Hospital of Fudan University for reproductive genetic counseling from December 2020 to December 2023 with the main complaint of congenital eye disorders were included in this study. All cases had no known infections or exposure to known teratogenic drugs, karyotype and chromosome microarray analysis (CMA) abnormalities. Genomic DNA was extracted from the peripheral blood of the probands and their family members and tested for WES. Among them, three individual WES and 21 Trio WES were performed. Potential pathogenic sites were screened and analyzed by Sanger sequencing. For RPGRIP1:c.1611+26G>A site, minigene vector was constructed and RT-qPCR was performed to detect the effect of mRNA splicing. Results: A total of 24 families were collected in this study, of which 20 yielded positive results, achieving a diagnosis rate of 83.3% (20/24). The results involved 21 genes and identified 30 distinct variants, 19 of which were new variants reported. Prenatal diagnostic analysis of family 3 revealed that the fetus carried a c.6970G>T heterozygous nonsense mutation in the PRPF8 gene. The results of RT-PCR with the minigene vector at the non-classical splice site in family 24 indicated that the transcription product of the mutant plasmid was partially retained 104 bp in intron 12, resulting in a p.Glu538Valfs*12 alteration of the protein. Conclusions: The high detection rate of WES in the diagnosis of hereditary eye diseases further supports the advantages of its application as an important molecular detection tool for determining the etiology of hereditary eye diseases.


Subject(s)
Exome Sequencing , Eye Diseases, Hereditary , Humans , Eye Diseases, Hereditary/genetics , Eye Diseases, Hereditary/diagnosis , Female , Prenatal Diagnosis/methods , Mutation , Pedigree
18.
Zhonghua Yi Xue Za Zhi ; 104(7): 547-551, 2024 Feb 20.
Article in Zh | MEDLINE | ID: mdl-38317368

ABSTRACT

In this study, a case of Lynch syndrome (LS) family line with a novel mutation site in the MLH1 c.463dupC gene was reported and the clinical and pathogenic genetic features of this family were analyzed. A 40-year-old female patient with colon cancer diagnosed at the First Affiliated Hospital of Kunming Medical University on October 2, 2020 was retrospectively included. The clinical data of the family were collected and the family lineage was drawn. The family tumor history met the Amsterdam Criteria Ⅱ and the diagnostic criteria of LS in Chinese, which was a typical LS family lineage. A germline code-shift missense mutation c.463dupC in the MLH1 gene located in exon 6, a possible pathogenic variant, was detected by second-generation sequencing (NGS) in the patient. Subsequently, Sanger sequencing was performed on a total of 20 direct lineage members of the family of the MLH1 gene, 7 cases were found to harbor the mutation and included in the LS high-risk control. Follow-up to October 2023 showed that the patient had endometrial and cervical polyps, one case had colorectal cancer, and two cases had intestinal polyps, all were treated with early intervention and therapy; two cases did not show any clinical symptoms. This study is the first to report a new mutation site for the potentially pathogenic MLH1 c.463dupC, providing a rationale for the pathogenicity of the mutation and standardized health management for familial carriers.


Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis , Female , Humans , Adult , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/pathology , Genetic Predisposition to Disease , Retrospective Studies , MutL Protein Homolog 1/genetics , Mutation
19.
Zhonghua Yi Xue Za Zhi ; 104(13): 1028-1035, 2024 Apr 02.
Article in Zh | MEDLINE | ID: mdl-38561297

ABSTRACT

Objective: To investigate the impact of lumbar paraspinal muscle degeneration and postoperative failure to restore ideal Roussouly classification on the occurrence of mechanical complications (MC) following long-segment spinal correction surgery in female patients with degenerative scoliosis (DS). Methods: The clinical data of 72 female DS patients who underwent long-segment spinal correction surgery in Gulou Hospital from June 2017 to November 2021 were retrospectively analyzed. According to whether restoring the ideal Roussouly classification after surgery, the patients were divided into R group(recovery group) (n=51) and N group(non-recovery group) (n=21). According to whether mechanical complications occurred after operation within two years, the patients were divided into MC (mechanical complications)group (n=24) and NMC(non-mechanical complications) group (n=48). The RM group (n=14) experienced mechanical complications in the R group, while the RN group (n=37) did not. The NM group (n=10) experienced mechanical complications in the N group, while the NN group (n=11) did not.Radiographic assessment included Sagittal parameters of spine and pelvis, standardized cross-sectional area (SCSA) and fat infiltration rate (FI%) of paraspinal muscle at each lumbar disc level. Results: The age of DS patients in this study was (61.4±6.2) years.The incidence of MC was 33.33%(n=24)in all patients. The incidence of MC was 27.45%(n=14)in group R and 47.62%(n=10) in group N. The correction amount of pelvic tilt angle (PT) (-11.62°±10.06° vs -7.04°±8.45°, P=0.046) and T1 pelvic angle(TPA)(-12.88°±11.23° vs -7.31°±9.55°, P=0.031)during surgery were significantly higher in MC group compared to the NMC group. In group R, the FI% of paraspinal muscles in each lumbar segment of patients with postoperative MC was higher than that in patients without MC (P<0.05). In the R and N groups, there was no significant difference inthe SCSA of the lumbar paravertebral muscles between patients with postoperative MC and those without MC at each level (all P>0.05). Multivariate logistic regression analysis showed that the average FI% of lumbar PSM was correlated with the occurrence of MC after spinal fusion in DS patients.The average FI% of lumbar PSM≥22.63% was a risk factors for MC after spinal fusion (P=0.010,OR=1.088, 95%CI:1.020-1.160). Conclusions: Female DS patients with higher degree of preoperative paraspinal muscle degeneration have a higher incidence of postoperative mechanical complications. For these patients,.there is still a higher risk of mechanical complications after surgery even if the ideal Roussouly classification is restored after surgery.


Subject(s)
Scoliosis , Spinal Fusion , Humans , Female , Middle Aged , Aged , Scoliosis/surgery , Paraspinal Muscles , Lumbar Vertebrae/surgery , Retrospective Studies , Risk Factors , Muscular Atrophy , Postoperative Complications , Spinal Fusion/adverse effects
20.
Zhonghua Yi Xue Za Zhi ; 104(1): 22-30, 2024 Jan 02.
Article in Zh | MEDLINE | ID: mdl-38178764

ABSTRACT

Objective: To investigate the correlations between cosmetic and radiographic parameters of shoulder balance, as well as the variations in cosmetic shoulder balance observed from different perspectives, among patients with adolescent idiopathic scoliosis (AIS) characterized by thoracic curves. Methods: A total of 43 patients with thoracic curves treated from July to October in 2022 in Nanjing Drum Tower Hospital were recruited in this study. There were 9 males and 34 females with a mean age of (14.3±1.5) years. All participants underwent comprehensive radiographic assessments and were photographed both from posterior and anterior views, focusing on the shoulder region as well as a higher level (maintaining a consistent vertical distance of 180 cm from the ground). Six cosmetic parameters were measured on the photographs: shoulder angle(α1), axilla angle(α2), shoulder area index 1(SAI1), shoulder area index 2 (SAI2), inner shoulder height (SHi) and outer shoulder height (SHo). Eight radiographic parameters were measured on the radiographs: radiographic shoulder height difference (RSHD), first rib angle (FRA), clavicle-rib cage intersection (CRCI), coracoid process height (CPH), T1 tilt, clavicle angle(CA), clavicle chest cage angle difference (CCAD) and Cobb angle. Differences among bilateral cosmetic indicators from different perspectives were analyzed and compared, and their correlation with bilateral radiographic indicators was studied. Results: There was no significant differences between anterior cosmetic parameters and posterior cosmetic parameters at the same level of observation(all P>0.05). However, when observing SHi, SHo, α1, and α2 at the shoulder level, it became evident that they exhibited significantly higher values compared to the corresponding higher level on the same side of the patients' bodies. This contrast was observed in both the dorsal [SHo: (0.11±1.20) cm vs (-0.44±1.39) cm, P=0.005; SHi: (0.64±0.86) cm vs (0.32±0.56) cm, P=0.003; α1:-0.47°±2.27° vs -0.77°±2.49°, P=0.014; α2:-3.06°±3.23° vs -2.21°±3.03°, P=0.034] and ventral [SHo: (0.12±1.29) cm vs (-0.48±1.35) cm, P=0.007; SHi: (0.61±0.88) cm vs (0.30±0.59) cm, P=0.006; α1:-0.46°±2.18° vs -0.69°±2.35°, P=0.018; α2:-3.26°±3.12° vs -2.05°±2.97°, P=0.029] aspects of the patients. SHi and SHo were more sensitive to this difference of height. The correlation coefficients between radiographic parameters and cosmetic aspects at the shoulder level varied from 0.374 to 0.767. Similarly, the correlation coefficients between radiographic parameters and cosmetic factors at the higher level ranged from 0.273 to 0.579 (all P<0.05). Conclusions: The cosmetic parameters had significant difference between different perspective of observation, the cosmetic parameters are needed to be observed at the shoulder level in the evaluation of patients' shoulder balance.


Subject(s)
Kyphosis , Scoliosis , Spinal Fusion , Male , Female , Humans , Adolescent , Child , Shoulder , Thoracic Vertebrae , Clavicle , Retrospective Studies
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