With the development of preimplantation genetic testing (PGT) technology, the application of third-generation sequencing technology in PGT has been increasing. This article reports the pregnancy outcome of a patient with autosomal dominant polycystic kidney disease who underwent PGT using the third-generation sequencing technology. It summarizes the technical characteristics of third-generation sequencing technology, as well as its significant advantages and limitations in PGT for families with de novo mutations.

With the development of preimplantation genetic testing (PGT) technology, the application of third-generation sequencing technology in PGT has been increasing. This article reports the pregnancy outcome of a patient with autosomal dominant polycystic kidney disease who underwent PGT using the third-generation sequencing technology. It summarizes the technical characteristics of third-generation sequencing technology, as well as its significant advantages and limitations in PGT for families with de novo mutations.

This article reported the diagnosis and management of a case of a child with Kabuki syndrome. Kabuki syndrome is characterized by distinct facial features, skeletal anomalies, abnormal skin texture, and intellectual disabilities, and is primarily caused by heterozygous mutations in the lysine methyltransferase 2D(KMT2D) gene. The onset in this patient was insidious, presenting with short stature and intellectual impairment. Genetic testing identified a pathogenic heterozygous variant in the KMT2D gene. This article focuses on analyzing the necessity and appropriateness of growth hormone therapy in children with Kabuki syndrome, and includes a review of relevant literature to improve clinicians′ understanding of this rare condition.

Objective:To investigate the relationship between thoracic aortic calcification (TAC) and autonomic nervous system (ANS) function in patients receiving continuous ambulatory peritoneal dialysis (CAPD).Methods:It was a cross-sectional study. The CAPD patients with dialysis duration >6 months between January and December 2022 were retrospectively enrolled. The baseline clinical data, heart rate variability (HRV) data such as standard deviation of all normal to normal intervals (SDNN), root mean square of successive differences between adjacent normal-to-normal intervals (RMSSD), high frequency (HF), very low frequency (VLF), low frequency (LF), LF/HF, acceleration capacity (AC) and deceleration capacity (DC), and skin sympathetic nerve activity (SKNA) were collected. TAC was defined as TAC score (TACS) >100 AU. The patients were divided into TACS >100 AU group and TACS≤100 AU group based on whether the thoracic aorta was calcified. The differences of those data between the two groups were compared. Logistic regression model was used to analyze the related factors of TAC. Spearman correlation analysis method was used to analyze the correlation between peripheral blood neuropeptide Y, ANS parameters, average amplitude SKNA (aSKNA) and TACS.　Cox regression model was used to analyze the risk factors of all-cause mortality in patients with CAPD.Results:The study included 106 CAPD patients with 50 males (47.2%), age of (46.04±11.10) years and dialysis duration of (41.55±30.52) months. TACS>100 AU group exhibited significantly lower heart rate ( t=2.015, P=0.046), DC ( t=2.131, P=0.035), LF/HF ( Z=3.332, P<0.001) and ln(LF/HF) ( t=3.326, P=0.001), and higher AC ( t=-2.392, P=0.019) than TACS≤100 AU group. Multivariate logistic regression analysis results showed that after adjusting for age and eosinophil count, lnVLF ( OR=0.66, 95% CI 0.45-0.98, P=0.038), lnLF ( OR=0.69, 95% CI 0.49-0.97, P=0.032), DC ( OR=0.79, 95% CI 0.64-0.99, P=0.039) and AC ( OR=1.32, 95% CI 1.04-1.68, P=0.021) were independently correlated with the risk of TAC. Spearman correlation analysis showed that neuropeptide Y level in peripheral blood was correlated with aSKNA ( r=0.23, P=0.017), lnSDNN ( r=-0.20, P=0.036) and TACS ( r=0.19, P=0.048). During the follow-up period of (25.8±4.2) months, 5 patients (4.72%) died, including 1 patient in the TACS≤100 AU group and 4 patients in the TACS>100 AU group. Compared with the survival group, the death group had higher TACS ( Z=-2.262, P=0.024) and lower LF/HF ( Z=-2.750, P=0.006). Cox regression analysis results showed that increased ln(LF/HF) was an independent influencing factor for all-cause mortality in CAPD patients ( HR=0.22, 95% CI 0.05-0.83, P=0.026). Conclusions:HRV parameters (lnVLF, lnLF, AC and DC) of CAPD patients are independently associated with TAC. The dysfunction of ANS in CAPD patients (especially the decreased vagus nerve activity) may promote TAC.

Epidermal growth factor receptor inhibitor (EGFRI) -related paronychia is a condition clearly related to EGFRI therapy, characterized by periungual erythema, edema, purulent exudates, periungual or subungual granulomatous lesions, and sometimes accompanied by thinning, fragility or even splitting and seperation of nail plates. Inhibition of epidermal function, inflammation and secondary infections, as well as angiogenesis are the core processes in the occurrence and development of EGFRI-related paronychia. This review summarizes epidemiology, pathogenesis, clinical manifestations, prevention and treatment of EGFRI-related paronychia.

This article reported the diagnosis and management of a case of a child with Kabuki syndrome. Kabuki syndrome is characterized by distinct facial features, skeletal anomalies, abnormal skin texture, and intellectual disabilities, and is primarily caused by heterozygous mutations in the lysine methyltransferase 2D(KMT2D) gene. The onset in this patient was insidious, presenting with short stature and intellectual impairment. Genetic testing identified a pathogenic heterozygous variant in the KMT2D gene. This article focuses on analyzing the necessity and appropriateness of growth hormone therapy in children with Kabuki syndrome, and includes a review of relevant literature to improve clinicians′ understanding of this rare condition.

Objective:To investigate the relationship between thoracic aortic calcification (TAC) and autonomic nervous system (ANS) function in patients receiving continuous ambulatory peritoneal dialysis (CAPD).Methods:It was a cross-sectional study. The CAPD patients with dialysis duration >6 months between January and December 2022 were retrospectively enrolled. The baseline clinical data, heart rate variability (HRV) data such as standard deviation of all normal to normal intervals (SDNN), root mean square of successive differences between adjacent normal-to-normal intervals (RMSSD), high frequency (HF), very low frequency (VLF), low frequency (LF), LF/HF, acceleration capacity (AC) and deceleration capacity (DC), and skin sympathetic nerve activity (SKNA) were collected. TAC was defined as TAC score (TACS) >100 AU. The patients were divided into TACS >100 AU group and TACS≤100 AU group based on whether the thoracic aorta was calcified. The differences of those data between the two groups were compared. Logistic regression model was used to analyze the related factors of TAC. Spearman correlation analysis method was used to analyze the correlation between peripheral blood neuropeptide Y, ANS parameters, average amplitude SKNA (aSKNA) and TACS.　Cox regression model was used to analyze the risk factors of all-cause mortality in patients with CAPD.Results:The study included 106 CAPD patients with 50 males (47.2%), age of (46.04±11.10) years and dialysis duration of (41.55±30.52) months. TACS>100 AU group exhibited significantly lower heart rate ( t=2.015, P=0.046), DC ( t=2.131, P=0.035), LF/HF ( Z=3.332, P<0.001) and ln(LF/HF) ( t=3.326, P=0.001), and higher AC ( t=-2.392, P=0.019) than TACS≤100 AU group. Multivariate logistic regression analysis results showed that after adjusting for age and eosinophil count, lnVLF ( OR=0.66, 95% CI 0.45-0.98, P=0.038), lnLF ( OR=0.69, 95% CI 0.49-0.97, P=0.032), DC ( OR=0.79, 95% CI 0.64-0.99, P=0.039) and AC ( OR=1.32, 95% CI 1.04-1.68, P=0.021) were independently correlated with the risk of TAC. Spearman correlation analysis showed that neuropeptide Y level in peripheral blood was correlated with aSKNA ( r=0.23, P=0.017), lnSDNN ( r=-0.20, P=0.036) and TACS ( r=0.19, P=0.048). During the follow-up period of (25.8±4.2) months, 5 patients (4.72%) died, including 1 patient in the TACS≤100 AU group and 4 patients in the TACS>100 AU group. Compared with the survival group, the death group had higher TACS ( Z=-2.262, P=0.024) and lower LF/HF ( Z=-2.750, P=0.006). Cox regression analysis results showed that increased ln(LF/HF) was an independent influencing factor for all-cause mortality in CAPD patients ( HR=0.22, 95% CI 0.05-0.83, P=0.026). Conclusions:HRV parameters (lnVLF, lnLF, AC and DC) of CAPD patients are independently associated with TAC. The dysfunction of ANS in CAPD patients (especially the decreased vagus nerve activity) may promote TAC.

Epidermal growth factor receptor inhibitor (EGFRI) -related paronychia is a condition clearly related to EGFRI therapy, characterized by periungual erythema, edema, purulent exudates, periungual or subungual granulomatous lesions, and sometimes accompanied by thinning, fragility or even splitting and seperation of nail plates. Inhibition of epidermal function, inflammation and secondary infections, as well as angiogenesis are the core processes in the occurrence and development of EGFRI-related paronychia. This review summarizes epidemiology, pathogenesis, clinical manifestations, prevention and treatment of EGFRI-related paronychia.

Objective To establish an evaluation criterion for high-quality nursing services in comprehensive hospitals of Grade Three in Guangdong Province and provide references for promoting the evaluation of high quality nursing services and standardising high quality nursing services.Methods Based on literature review,brainstorming and references of relevant domestic systems,standards and policies,a pool of evaluation index items and a preliminary questionnaire were constructed.Delphi method was used for two rounds of expert consultations on evaluation indicators.Results The positive coefficients of the two rounds of expert consultations were of 80.00%and 91.67%,respectively,with the authority coefficients both at 0.93.The Kendall coordination coefficients for hospital part were 0.128 and 0.116 respectively,for ward part were 0.193 and 0.107 with statistical differences(both P＜0.001).The evaluation criteria for high-quality nursing services in general hospitals above the third level in Guangdong Province involved in nursing services of hospitals and wards.There were 8 primary indicators,22 secondary indicators and 65 tertiary indicators in the nursing services at hospital part,and 9 primary indicators,23 secondary indicators and 50 tertiary indicators in the nursing services at ward part.Conclusions The evaluation criteria for high-quality nursing services in comprehensive hospitals above the third level in Guangdong Province,established in this study,are scientifically valid and reliable.They allow improvement of management system for the high-quality nursing services as well as guide the healthy development of high-quality nursing services.

Objective To investigate the characteristics and clinicopathology of v-raf murine sarcoma viral oncogene homolog Bl(BRAF)V600E mutations in papillary thyroid carcinoma(PTC)in Air Force flight personnel.Methods Data of cases and test results of BRAF V600E mutation were collected from Air Force aviators pathologically diagnosed with PTC.A univariate analysis of the relationship between BRAF V600E mutations and clinicopathologic features was performed.Results The overall rate of BRAF V600E mutations among 55 PTC flight crew members was 70.91％.The univariate analysis showed that the number of lymph node metastases in the BRAF V600E mutated group was larger than in the BRAF V600E unmutated group,and the proportion of BRAF V600E mutations in flight crews at intermediate risk of recurrence was higher than that in those at low risk of recurrence(P＜0.05).The presence or absence of BRAF V600E mutations did not affect the results of medical evaluation of PTC in flight personnel.Conclusion The rate of PTC BRAF V600E mutations in Air Force flight crews is similar to that of the general Chinese population.BRAF V600E mutations are associated with an increased number of lymph node metastases and risk of recurrence,and follow-up is recommended for flight personnel with PTC,especially those with BRAF V600E mutations.