Association between grip strength, walking pace and incident peripheral artery disease: A prospective study of 430,886 UK biobank participants.

Background and aims: Patients with peripheral artery disease (PAD) presented overall muscle weakness and reduced physical performance. Previous study focused on the impact of muscle weakness on outcomes of established PAD, however the relationship between compromised muscle function and incident PAD remained unclear. Methods: A prospective study involving 430,886 participants aged 40-69 y from UK biobank was conducted. The main outcome was incident PAD. Grip strength and walking pace were used as indicators for muscle function. Grip strength was measured using a Jamar J00105 hydraulic hand dynamometer, while walking pace was self-reported by the participants. Cox proportional hazard models were employed to investigate the relationship between grip strength, walking pace, and incident PAD. Results: A total of 430,886 individuals were included in the final analysis. The mean age of the participants were 56.44 years, and 55.3 % were female. Over a median follow-up period of 13.81 years, 5,661 participants developed PAD. Higher grip strength, whether absolute or relative, exhibited a dose-dependent inverse association with incident PAD. Each 1 kg increment in absolute grip strength and each 0.01 kg/kg increase in relative grip strength were associated with reduced PAD risk by 2 % (HR: 0.98; 95 % CI [0.97-0.98]) and 83 % (HR: 0.17; 95 % CI [0.13-0.23]), respectively. Slow walking pace significantly correlated with increased PAD risk, while brisk walking pace was associated with decreased PAD risk. Conclusion: Absolute grip strength, relative grip strength and walking pace were inversely associated with the risk of incident PAD.

[Tempo-spatial Variations in Nitrogen and Phosphorus Loads in Jianli-Hankou Reach of the Middle Yangtze River During the Past 20 Years].

Ammonia nitrogen （NH4+-N） and total phosphorus （TP） were the major control pollutants in the Yangtze River Basin. Based on measured data from 2003 to 2020, the temporal and spatial variations in concentrations and fluxes of NH4+-N and TP in the Jianli to Hankou （JL-HK） reach of the Middle Yangtze River were studied, and the impacts of flow-sediment factors, tributary inflows, and others on variations in NH4+-N and TP fluxes were discussed. The results showed that： ① In recent years, NH4+-N and TP concentrations in the mainstream have declined significantly, with annual NH4+-N and TP concentrations at each monitoring station in 2020 averagely decreasing by 41% and 34% compared to those in 2003, respectively. Spatially, NH4+-N and TP concentrations decreased and then increased along the mainstream. NH4+-N and TP concentrations of tributary inflows, which include the Dongting Lake and Han River, were generally lower than that of the mainstream. The multi-year average values of NH4+-N and TP concentrations were both averaged at 0.12 mg·L-1 in the mainstream and were averaged at 0.11 mg·L-1 and 0.09 mg·L-1 in the tributary inflows. ② The flux differences between the upper and lower sections net of tributary confluences showed that NH4+-N and TP fluxes were lost in the Jianli to Luoshan （JL-LS） sub-reach and increased in the Luoshan to Hankou （LS-HK） sub-reach in most years. NH4+-N and TP fluxes decreased in the JL-LS sub-reach, which was related to the lower NH4+-N and TP concentrations in lateral inflows, such as Dongting Lake, and thus lowered the NH4+-N and TP concentrations in the mainstream. The LS-HK sub-reach showed the opposite trends, and the water and sediment loads increased in this sub-reach. Across the whole JL-HK reach, TP flux as well as water and sediment loads were recharged along the reach, whereas NH4+-N flux was reduced greatly, which could be attributed to the pollution abatement conducted in the Yangtze River Basin, which mainly focused on NH4+-N. ③ The correlation analysis results showed that NH4+-N fluxes had the strongest correlation with NH4+-N concentrations but not significantly correlated with discharges and sediment transport rates, indicating that NH4+-N was mainly controlled by point source pollution in the study reach. TP fluxes had higher correlations with discharges and sediment transport rates in high flow level periods, and the correlations between TP fluxes and TP concentrations were better in low flow level periods, reflecting that point source pollution contributed more to TP in dry seasons compared to flood seasons.

Associations of Diabetes and Prediabetes With Mortality and Life Expectancy in China: A National Study.

OBJECTIVE: To investigate the excess mortality and life-years lost associated with diabetes and prediabetes in China. RESEARCH DESIGN AND METHODS: This national cohort study enrolled 135,405 participants aged 18 years or older from the general population in China. Cox proportional hazards regression models were used to estimate adjusted mortality rate ratio (RR). The life table method was used to estimate life expectancy. RESULTS: Among the 135,405 participants, 10.5% had diabetes and 36.2% had prediabetes in 2013. During a median follow-up of 6 years, 5517 deaths were recorded, including 1428 and 2300 deaths among people with diabetes and prediabetes, respectively. Diabetes and prediabetes were significantly associated with increased risk of all-cause (diabetes: RR, 1.61 [95% CI 1.49, 1.73]; prediabetes: RR, 1.08 [95% CI 1.01, 1.15]), and cardiovascular disease (diabetes: RR, 1.59 [95% CI 1.41, 1.78]; prediabetes: RR, 1.10 [95% CI 1.00, 1.21]) mortality. Additionally, diabetes was significantly associated with increased risks of death resulting from cancer, respiratory disease, liver disease, and diabetic ketoacidosis or coma. Compared with participants with normoglycemia, life expectancy of those with diabetes and prediabetes was shorter, on average, by 4.2 and 0.7 years at age 40 years, respectively. The magnitude of the associations of diabetes and prediabetes with all-cause and cardiovascular disease mortality varied by age and residence. CONCLUSIONS: In this national study, diabetes and prediabetes were significantly associated with reduced life expectancy and increased all-cause and cause-specific mortality risks. The disparities in excess mortality associated with diabetes and prediabetes between different ages and residences have implications for diabetes and prediabetes prevention and treatment programs.

Deep random forest with ferroelectric analog content addressable memory.

Deep random forest (DRF), which combines deep learning and random forest, exhibits comparable accuracy, interpretability, low memory and computational overhead to deep neural networks (DNNs) in edge intelligence tasks. However, efficient DRF accelerator is lagging behind its DNN counterparts. The key to DRF acceleration lies in realizing the branch-split operation at decision nodes. In this work, we propose implementing DRF through associative searches realized with ferroelectric analog content addressable memory (ACAM). Utilizing only two ferroelectric field effect transistors (FeFETs), the ultra-compact ACAM cell performs energy-efficient branch-split operations by storing decision boundaries as analog polarization states in FeFETs. The DRF accelerator architecture and its model mapping to ACAM arrays are presented. The functionality, characteristics, and scalability of the FeFET ACAM DRF and its robustness against FeFET device non-idealities are validated in experiments and simulations. Evaluations show that the FeFET ACAM DRF accelerator achieves ∼106×/10× and ∼106×/2.5× improvements in energy and latency, respectively, compared to other DRF hardware implementations on state-of-the-art CPU/ReRAM.

High-order rogue wave and mixed interaction patterns for the three-component Gross-Pitaevskii equations in F=1 spinor Bose-Einstein condensates.

Under investigation are the three-component Gross-Pitaevskii equations in F=1 spinor Bose-Einstein condensates. Various localized waves' generation mechanisms have been derived from plane wave solutions using modulation instability. The perturbed continuous waves produce a large number of rogue wave structures through the split-step Fourier numerical method. Based on the known Lax pair, we construct the generalized iterative (n,N-n)-fold Darboux transformation to generate various high-order solutions, including the bright-dark-bright structure of rogue waves, periodic waves, and their mixed interaction structures. Numerical simulations show that rogue waves with a two-peaked structure have robust noise resistance and stable dynamical behavior. The asymptotic states of high-order rogue waves as the parameter approaches infinity are also predicted using the large parameter asymptotic technique. In addition, the position of these localized wave patterns can be controlled by some special parameters. These results may help us understand the dynamic behavior of spinor condensates for the mean-field approximation.

Expert Consensus on Prevention and Treatment of Aging-Related Gonadal Dysfunction.

Aging-related hypogonadism involves complex mechanisms in humans, predominantly relating to the decline of multiple hormones and senile gonads. Late-onset hypogonadism (LOH) and erectile dysfunction (ED) are the main manifestations in men, while premature ovarian insufficiency (POI) and menopause are the main forms in women. Anti-aging measures include lifestyle modification and resistance training, hormonal supplementation, stem cell therapy, metformin, and rapamycin. In this expert consensus, the mechanisms, efficacy, and side effects of stem cell therapy on aging gonadal function are reviewed. Furthermore, various methods of stem cell therapy, administered intravenously, intracavernously, and intra-ovarially, are exemplified in detail. More clinical trials on aging-related gonadal dysfunction are required to solidify the foundation of this topic.

Danggui Sini decoction alleviates oxaliplatin-induced peripheral neuropathy by regulating gut microbiota and potentially relieving neuroinflammation related metabolic disorder.

BACKGROUND: Danggui Sini decoction (DSD), a traditional Chinese medicine formula, has the function of nourishing blood, warming meridians, and unblocking collaterals. Our clinical and animal studies had shown that DSD can effectively protect against oxaliplatin (OXA)-induced peripheral neuropathy (OIPN), but the detailed mechanisms remain uncertain. Multiple studies have confirmed that gut microbiota plays a crucial role in the development of OIPN. In this study, the potential mechanism of protective effect of DSD against OIPN by regulating gut microbiota was investigated. METHODS: The neuroprotective effects of DSD against OIPN were examined on a rat model of OIPN by determining mechanical allodynia, biological features of dorsal root ganglia (DRG) as well as proinflammatory indicators. Gut microbiota dysbiosis was characterized using 16S rDNA gene sequencing and metabolism disorders were evaluated using untargeted and targeted metabolomics. Moreover the gut microbiota mediated mechanisms were validated by antibiotic intervention and fecal microbiota transplantation. RESULTS: DSD treatment significantly alleviated OIPN symptoms by relieving mechanical allodynia, preserving DRG integrity and reducing proinflammatory indicators lipopolysaccharide (LPS), IL-6 and TNF-α. Besides, DSD restored OXA induced intestinal barrier disruption, gut microbiota dysbiosis as well as systemic metabolic disorders. Correlation analysis revealed that DSD increased bacterial genera such as Faecalibaculum, Allobaculum, Dubosiella and Rhodospirillales_unclassified were closely associated with neuroinflammation related metabolites, including positively with short-chain fatty acids (SCFAs) and sphingomyelin (d18:1/16:0), and negatively with pi-methylimidazoleacetic acid, L-glutamine and homovanillic acid. Meanwhile, antibiotic intervention apparently relieved OIPN symptoms. Furthermore, fecal microbiota transplantation further confirmed the mediated effects of gut microbiota. CONCLUSION: DSD alleviates OIPN by regulating gut microbiota and potentially relieving neuroinflammation related metabolic disorder.

Diallyl trisulfide inhibits osteosarcoma 143B cell migration, invasion and EMT by inducing autophagy.

Background: Diallyl trisulfide (DATS), a compound derived from garlic, has been demonstrated its anti-cancer properties. While it has been shown to inhibit the expression of epidermal growth factor receptor (EGFR) in various cancers, its effects on osteosarcoma (OS) cells remain unclear. This study aimed to investigate the impacts of DATS on OS cells growth, migration, invasion, epithelial-mesenchymal transition (EMT) and autophagy, as well as its underlying mechanisms which was involving in the EGFR/PI3K/AKT/mTOR pathway. Methods: In this study, human osteosarcoma cells (143B) were treated with different concentrations of DATS (10, 50, 100 and 200 µM) for 24 and 48 h, respectively. Cell viability was measured using CCK8, the half lethal concentration was selected for the following experiments. Wound healing and transwell assays were performed to evaluate migration and invasion abilities, while flow cytometry was used to measure apoptosis. Quantitative reverse transcription polymerase chain reaction (qRT-PCR), Western blotting, and confocal imaging were employed to analyze the related mRNA and protein expression levels of epithelial-mesenchymal transition (EMT), EGFR/Phosphoinositide 3 kinase (PI3K)/AKT/Mammalian target of rapamycin (mTOR) signaling pathway and autophagy-related markers. Results: DATS significantly inhibited proliferation, migration and EMT in osteosarcoma cells. Additionally, DATS promoted cell apoptosis and induced autophagy, which could be rescued by the autophagy inhibitor 3-methyladenine (3-MA). Moreover, DATS treatment led to the inactivation of the EGFR/PI3K/AKT/mTOR pathway in osteosarcoma cells. Conclusions: This study demonstrated that DATS inhibited osteosarcoma cell growth, migration and EMT, but inducing apoptosis and autophagy. These effects were mediated by the inactivation of the EGFR/PI3K/AKT/mTOR signaling pathway. These findings suggested that DATS could serve as a potential therapeutic agent for osteosarcoma treatment.

Unraveling the mechanisms of NK cell dysfunction in aging and Alzheimer's disease: insights from GWAS and single-cell transcriptomics.

Background: Aging is an important factor in the development of Alzheimer's disease (AD). The senescent cells can be recognized and removed by NK cells. However, NK cell function is gradually inactivated with age. Therefore, this study used senescence as an entry point to investigate how NK cells affect AD. Methods: The study validated the correlation between cognition and aging through a prospective cohort of the National Health and Nutrition Examination Survey database. A cellular trajectory analysis of the aging population was performed using single-cell nuclear transcriptome sequencing data from patients with AD and different ages. The genome-wide association study (GWAS) cohort of AD patients was used as the outcome event, and the expression quantitative trait locus was used as an instrumental variable. Causal associations between genes and AD were analyzed by bidirectional Mendelian randomization (MR) and co-localization. Finally, clinical cohorts were constructed to validate the expression of key genes. Results: A correlation between cognition and aging was demonstrated using 2,171 older adults over 60 years of age. Gene regulation analysis revealed that most of the highly active transcription factors were concentrated in the NK cell subpopulation of AD. NK cell trajectories were constructed for different age populations. MR and co-localization analyses revealed that CHD6 may be one of the factors influencing AD. Conclusion: We explored different levels of AD and aging from population cohorts, single-cell data, and GWAS cohorts and found that there may be some correlations of NK cells between aging and AD. It also provides some basis for potential causation.

Isoimperatorin Inhibits Angiogenesis by Suppressing VEGFR2 Signaling Pathway.

PURPOSE: Angiogenesis involves in many pathological processes, including tumor metastasis, diabetic retinopathy, and rheumatoid arthritis. Therefore, identifying therapeutic drugs that target angiogenesis may be a promising strategy for disease treatment. Isoimperatorin is a furanocoumarin with anti-inflammatory and anti-microbial effects. However, the impacts of isoimperatorin on angiogenesis and its underlying mechanisms remain unclear. This study aimed to verify its effects on vascular endothelial growth factor (VEGF)-induced endothelial angiogenesis. METHODS: We employed various assays including 5-ethynyl-2'-deoxyuridine incorporation assay, transwell migration assay, wound healing assay, tube formation assay, and Western blot to evaluate the effects of isoimperatorin on angiogenesis in vitro. Additionally, we utilized Western blot and immunofluorescence analysis to examine the activation of vascular endothelial growth factor receptor (VEGFR) 2 and its downstream signaling pathways following isoimperatorin treatment. To further validate the anti-angiogenic effects of isoimperatorin in vivo, we conducted a matrigel plug assay and established an orthotopic tumor model. RESULTS: We demonstrated that pretreatment with isoimperatorin inhibited VEGF-induced endothelial cell proliferation, migration, and tube formation. Isoimperatorin also suppressed angiogenesis in vivo in a matrigel plug assay and in an orthotopic tumor model. Our results revealed that isoimperatorin exhibited anti-angiogenic effects via inhibiting VEGFR2 and its downstream signaling pathways activation. CONCLUSIONS: Our study showed that isoimperatorin suppressed angiogenesis by targeting the VEGFR2 signaling pathway and could be a potential therapeutic agent for targeting angiogenesis.

Powering Disturb-Free Reconfigurable Computing and Tunable Analog Electronics with Dual-Port Ferroelectric FET.

Single-port ferroelectric FET (FeFET) that performs write and read operations on the same electrical gate prevents its wide application in tunable analog electronics and suffers from read disturb, especially in the high-threshold voltage (VTH) state as the retention energy barrier is reduced by the applied read bias. To address both issues, we propose to adopt a read disturb-free dual-port FeFET where the write is performed on the gate featuring a ferroelectric layer and the read is done on a separate gate featuring a nonferroelectric dielectric. Combining the unique structure and the separate read gate, read disturb is eliminated as the applied field is aligned with polarization in the high-VTH state, thus improving its stability, while it is screened by the channel inversion charge and exerts no negative impact on the low-VTH state stability. Comprehensive theoretical and experimental validation has been performed on fully depleted silicon-on-insulator (FDSOI) FeFETs integrated on a 22 nm platform, which intrinsically has dual ports with its buried oxide layer acting as the nonferroelectric dielectric. Novel applications that can exploit the proposed dual-port FeFET are proposed and experimentally demonstrated for the first time, including FPGA that harnesses its read disturb-free feature and tunable analog electronics (e.g., frequency tunable ring oscillator in this work) leveraging the separated write and read paths.

CeRNA Network Reveals the Circular RNA Characterization in Goat Ear Fibroblasts Reprogramming into Mammary Epithelial Cells.

Circular RNAs (circRNAs) are a type of non-coding RNA that play a crucial role in the development and lactation of mammary glands in mammals. A total of 107 differentially expressed circRNAs (DE circRNAs) were found, of which 52 were up-regulated and 55 were down-regulated. We also found that DE circRNA host genes were mainly involved in GO terms related to the development process of mammary epithelial cells and KEGG pathways were mostly related to mammary epithelial cells, lactation, and gland development. Protein network analysis found that DE circRNAs can competitively bind to miRNAs as key circRNAs by constructing a circRNA-miRNA-mRNA network. CircRNAs competitively bind to miRNAs (miR-10b-3p, miR-671-5p, chi-miR-200c, chi-miR-378-3p, and chi-miR-30e-5p) involved in goat mammary gland development, mammary epithelial cells, and lactation, affecting the expression of core genes (CDH2, MAPK1, ITGB1, CAMSAP2, and MAPKAPK5). Here, we generated CiMECs and systematically explored the differences in the transcription profile for the first time using whole-transcriptome sequencing. We also analyzed the interaction among mRNA, miRNA, and cirRNA and predicted that circRNA plays an important role in the maintenance of mammary epithelial cells.

A Parameter Estimation of Photovoltaic Models Using a Boosting Flower Pollination Algorithm.

An accurate and reliable estimation of photovoltaic models holds immense significance within the realm of energy systems. In pursuit of this objective, a Boosting Flower Pollination Algorithm (BFPA) was introduced to facilitate the robust identification of photovoltaic model parameters and enhance the conversion efficiency of solar energy into electrical energy. The incorporation of a Gaussian distribution within the BFPA serves the dual purpose of conserving computational resources and ensuring solution stability. A population clustering strategy is implemented to steer individuals in the direction of favorable population evolution. Moreover, adaptive boundary handling strategies are deployed to mitigate the adverse effects of multiple individuals clustering near problem boundaries. To demonstrate the reliability and effectiveness of the BFPA, it is initially employed to extract unknown parameters from well-established single-diode, double-diode, and photovoltaic module models. In rigorous benchmarking against eight control methods, statistical tests affirm the substantial superiority of the BFPA over these controls. Furthermore, the BFPA successfully extracts model parameters from three distinct commercial photovoltaic cells operating under varying temperatures and light irradiances. A meticulous statistical analysis of the data underscores a high degree of consistency between simulated data generated by the BFPA and observed data. These successful outcomes underscore the potential of the BFPA as a promising approach in the field of photovoltaic modeling, offering substantial enhancements in both accuracy and reliability.

Optical undular bores in Riemann problem of photon fluid with quintic nonlinearity.

This work develops the Whitham theory to study the Riemann problem of the Gerdjikov-Ivanov equation that describes the photon fluid with quintic nonlinearity. The one-phase periodic solution of the Gerdjikov-Ivanov equation and the corresponding Whitham equation are derived by the finite gap integration method. Subsequently, the main basic wave structures arising from the discontinuous initial-value conditions are found by distinguishing the distributions of the Riemann invariants. Some exotic optical undular bores are observed by classifying the solutions of the Riemann problem of the Gerdjikov-Ivanov equation. It is observed that the analytical results from Whitham theory are in excellent agreement with the numerical solutions.

All-cause mortality in moderate and severe COVID-19 patients with myocardial injury receiving versus not receiving azvudine: a propensity score-matched analysis.

Omicron is currently the dominant strain of severe acute respiratory syndrome coronavirus 2, but little is known about the characteristics and management of omicron related myocardial injury, particularly the potential benefit of the antiviral agent azvudine. Methods: Patients with confirmed and suspected coronavirus disease 2019 (COVID-19) admitted to Wuhan Union Hospital from December 7, 2022, to December 30, 2022, were included in this study. Cox regression was conducted to identify risk factors for all-cause mortality. A propensity score-matched analysis was performed at a 1:1 ratio with a caliper of 0.1 pooled standard deviations of relevant confounders. Results: The final analysis included a total of 332 patients (167 confirmed cases and 165 suspected cases), 42.77% (142/332) of the patients were 80 years of age or older and 68.67% (228/332) of them were men, 158 patients were treated with azvudine. In the matched cohort, the total mortality was 30.30% (60/198), 40 (20.20%, 40/198) patients received noninvasive ventilation and 22 (11.11%, 22/198) received invasive ventilation, 34 (17.17%, 34/198) patients were admitted to intensive care unit (ICU). The rate of shock, multiple organ damages and arrhythmia were 11.62% (23/198), 20.20% (40/198), and 12.12% (24/198), respectively. There was no significant difference on these clinical outcomes in patients treated with azvudine or not. Azvudine reduced early mortality (within 14 days from admission) (hazard ratio: 0.37, 95% confidence interval: 0.18-0.77) even after adjusting for other treatments including glucocorticoids, immunoglobin and anticoagulant therapy, but not the final in-hospital mortality of patients. Conclusions: Patients with COVID-19-related myocardial injury had a high mortality of about 30.30% (60/198). Azvudine improved the early survival of the patients but not final mortality.

Grading Criteria of Anthurium DUS Quantitative Characteristics by Multiple Comparison.

The determination of the grades and interval of quantitative characteristics is an important job while we draft new distinctness, uniformity and stability (DUS) test guidelines. Grading criteria should be adjusted because of the effect of year and site; it is also a key task to establish applicable criteria in the DUS test. Excellent criteria will improve the accuracy of the DUS evaluation. In this study, we analyzed the variability and distribution patterns of nine quantitative characteristics of 251 anthurium varieties. Three methods were used to establish the grade criteria: the two standard deviation methods, the two LSD0.05 methods and the multiple comparison method. The results showed that the coefficient of variation within varieties varied from 6.96% to 10.11%. The quantitative characteristics observed in this study did not follow a normal distribution, except spadix thickness at the middle and spathe size. In most characteristics, the standard deviations and LSD0.05 were similar, except for spathe size. The state interval set by multiple comparison methods for every characteristic was variable, and its mean was about 1.25 times that of the other two methods. The process of establishing grading criteria using the multiple comparison method was simpler, and the criteria were more accurate, with a lower error rate.

Evaluation of in vitro activity of herbal formula Di Er You and herb Coptis against bacteria isolated from dogs with otitis externa.

OBJECTIVE: To determine the in vitro activity of the herbal formula Di Er You (DEY) and the single-herb Coptis against bacteria cultured from dogs with otitis externa. ANIMALS: 32 client-owned dogs diagnosed with otitis externa. METHODS: A sample of otic debris from each patient was collected and plated onto a fresh Sheep's Blood Agar plate in the hospital. After bacterial growth was confirmed, 4 wells were created, numbered randomly, and treated with saline (placebo), DEY, Coptis, and Zymox Otic Enzymatic Solution with 1% Hydrocortisone (Zymox). After 24 hours of incubation, the diameter of the zone of inhibition (dZOI) of each treatment was measured and recorded, and compared among treatments. A sample of the bacterial colonies grown was submitted to an outside lab for bacterial identification. RESULTS: The mean ± SD dZOI values for saline, DEY, Coptis, and Zymox treated wells were 0.25 ± 1.41, 12.47 ± 3.92, 14.25 ± 7.12, and 3.22 ± 5.12, respectively. Post hoc multiple comparisons test revealed that (1) saline-treated wells had significantly smaller dZOI values than the other 3 groups (all P < .001), (2) Zymox treated wells had significantly smaller dZOI values than either herbal treated groups (both P < .001), and (3) DEY treated wells had significantly smaller dZOI values than those treated with Coptis (P = .0042). CLINICAL RELEVANCE: The results from this in vitro study suggested that both DEY and Coptis could be effective treatments in inhibiting the growth of bacteria in dogs with otitis externa. Prospective randomized controlled clinical trials are warranted to confirm these findings.

A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome.

Background: Complete androgen insensitivity syndrome (CAIS, OMIM; 300068) is a disorder of sex development with X-linked recessive inheritance. Cases of CAIS usually present as female phenotype, with primary amenorrhea and/or inguinal hernia. Family aggregation is a rare scenario. Methods: This study is a retrospective analysis of CAIS cases in a three-generation pedigree. The patients' genomes were determined by sequencing the androgen receptor (AR) gene. The clinical data of the patients, including manifestations, hormone levels, and AR variants, were analyzed. Results: Sixteen people in this family were involved. A deletion variant (c.1847_1849del; p. Arg616del) was identified in exon 3 of AR, which encodes the DNA binding domain. Until now, four patients and four carriers have been identified in three generations of this family. All the patients live as female, and one has developed gonadal malignancy. Conclusion: The present study identified a deletion variant in three generations of a family with CAIS, including four carriers and four patients. This study verified the genetic pattern and the corresponding clinical characteristics of CAIS. Furthermore, a case with gonadal malignancy was discovered. The information on diagnosis and treatment in this pedigree is useful for prenatal diagnosis and genetic counseling of similar families.

[PACS and Photoshop assisted isosceles triangle osteotomy and Kirschner wire tension buckle fixation in the treatment of cubitus varus in children].

OBJECTIVE: To investigate the clinical efficacy of picture archiving and communication system (PACS) and Photoshop assisted isosceles triangle osteotomy and Kirschner wire fixation with tension band in the treatment of cubitus varus in children. METHODS: The clinic data of 20 children with cubitus varus treated with isosceles triangle osteotomy of distal humerus and Kirschner wire fixation with tension band from October 2014 to October 2019, were retrospectively analyzed. There were 13 males and 7 females, aged from 3.2 to 13.5 years old, the median age was 6.65 years old. PACS system was applied for the osteotomy design preoperatively, simulating and measuring the side length of isosceles triangle osteotomy. Then, Photoshop system was used to simulate the preoperative and postoperative osteotomy graphics, which could guide precise osteotomy during operation. RESULTS: All the 20 patients were followed up for 20 to 24 months, with a median of 22.5 months. At the last follow-up, the carrying angle of the affected limb was 5 ° to 13 °, with a median of 8.3 °. The clinical efficacy was evaluated according to the Flynn elbow function score:excellent in 16 cases, good in 2 cases, and fair in 2 cases. CONCLUSION: The treatment of cubitus varus in children by isosceles triangle osteotomy and Kirschner wire fixation with tension band assisted by PACS and Photoshop system has shown good clinical outcome.