Objective:To investigate the efficacy of combined pelvic magnetic therapy and pelvic floor electromyographic (EMG) biofeedback therapy in perimenopausal women with pelvic floor dysfunction (PFD), and its effects on bladder function and urodynamic status.Methods:A total of 137 perimenopausal women with PFD treated at Shenzhen Hospital of Integrated Traditional Chinese and Western Medicine between February 2022 and May 2024 were enrolled. They were randomly divided into a control group ( n=68) and a study group ( n=69) by random number table method. Both groups received Kegel exercises. The control group additionally received pelvic floor EMG biofeedback therapy. The study group received combined pelvic magnetic therapy and pelvic floor EMG biofeedback therapy. The outcomes compared between groups were as follows: Bladder Function: First urge voiding volume (FVS), maximum urge voiding volume (MVS), post-void residual urine volume (PVR), prolapse of pelvic floor organs, urodynamics: Pressure of urethral maximum measurement (PUM), maximum urethral closure pressure (PMUC), bladder compliance (BC), pelvic floor muscle function: Pelvic floor muscle strength grade (PFMT), pelvic floor resting pressure (RP), vaginal dynamic pressure (VDPT). Normally distributed continuous data were presented as xˉ± s and compared by independent samples t-test. Categorical data were presented as case (%) and compared by χ2 test. Ranked data were compared by Kruskal-Wallis H test. A P-value<0.05 was considered statistically significant. Results:Baseline characteristics showed no significant differences between groups ( P>0.05). At post-treatment, the study group had a significantly higher clinical effective rate of 97.10% (67/69) compared to the control group, which was 88.24% (60/68) ( χ2=3.98, P=0.046). At post-treatment, the study group had significantly higher FVS [(238.29±10.22) mL vs. (229.37±10.54) mL, t=5.03, P<0.001] and MVS [(436.57±12.48) mL vs. (428.23±12.75) mL, t=3.87, P<0.001], and significantly lower PVR [(5.14±1.28) mL vs. (6.96±1.21) mL, t=8.55, P<0.001] compared to the control group. At post-treatment, urodynamic parameters were significantly higher in the study group: PUM [(10.08±0.97) kPa vs. (8.54±0.73) kPa, t=10.49, P<0.001], PMUC [(8.71±0.75) kPa vs. (7.68±0.64) kPa, t=8.64, P<0.001], and BC [(396.58±30.49) mL/kPa vs. (378.86±32.91) mL/kPa, t=3.27, P<0.001]. For pelvic organ prolapse (POP-Q), the distribution were as follows: Study Group: Grade 0: 16, Grade Ⅰ: 34, Grade Ⅱ: 18, Grade Ⅲ: 1, Grade Ⅳ: 0, control Group: Grade 0: 9, Grade Ⅰ: 31, Grade Ⅱ: 23, Grade Ⅲ:5, Grade Ⅳ: 0. The difference was statistically significant ( Z=2.08, P=0.037). At post-treatment, pelvic floor muscle function was significantly higher in the study group: PFMT [(4.21±0.29) vs. (3.84±0.23), t=8.27, P<0.001], RP [(9.59±1.26) cmH?O vs. (8.34±1.17) cmH?O, t=6.02, P<0.001], and VDPT [(82.74±3.36) cmH?O vs. (77.45±3.52) cmH?O, t=9.00, P<0.001]. Conclusion:Combined pelvic magnetic therapy and pelvic floor EMG biofeedback therapy demonstrates significant efficacy in treating PFD in perimenopausal women. It markedly improves bladder function and urodynamic status.

Objective:To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS).Methods:A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). Results:Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively, 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20 respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites induding, c. 204_205insTCTC (p.V69fs), c. 412G>C (p.G138R), c. 431T>G (p.V144G), and c. 875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. Conclusion:Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.

OBJECTIVE: To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS). METHODS: A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). RESULTS: Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively. 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20, respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites, including c.204_205insTCTC (p.V69fs), c.412G>C (p.G138R), c.431T>G (p.V144G), and c.875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. CONCLUSION Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.
Humans ; Male ; Female ; Glucose Transporter Type 1/deficiency* ; Monosaccharide Transport Proteins/deficiency* ; Child ; Child, Preschool ; Carbohydrate Metabolism, Inborn Errors/genetics* ; Mutation ; Infant ; Pedigree ; Adolescent ; Adult

Objective:To investigate the efficacy of combined pelvic magnetic therapy and pelvic floor electromyographic (EMG) biofeedback therapy in perimenopausal women with pelvic floor dysfunction (PFD), and its effects on bladder function and urodynamic status.Methods:A total of 137 perimenopausal women with PFD treated at Shenzhen Hospital of Integrated Traditional Chinese and Western Medicine between February 2022 and May 2024 were enrolled. They were randomly divided into a control group ( n=68) and a study group ( n=69) by random number table method. Both groups received Kegel exercises. The control group additionally received pelvic floor EMG biofeedback therapy. The study group received combined pelvic magnetic therapy and pelvic floor EMG biofeedback therapy. The outcomes compared between groups were as follows: Bladder Function: First urge voiding volume (FVS), maximum urge voiding volume (MVS), post-void residual urine volume (PVR), prolapse of pelvic floor organs, urodynamics: Pressure of urethral maximum measurement (PUM), maximum urethral closure pressure (PMUC), bladder compliance (BC), pelvic floor muscle function: Pelvic floor muscle strength grade (PFMT), pelvic floor resting pressure (RP), vaginal dynamic pressure (VDPT). Normally distributed continuous data were presented as xˉ± s and compared by independent samples t-test. Categorical data were presented as case (%) and compared by χ2 test. Ranked data were compared by Kruskal-Wallis H test. A P-value<0.05 was considered statistically significant. Results:Baseline characteristics showed no significant differences between groups ( P>0.05). At post-treatment, the study group had a significantly higher clinical effective rate of 97.10% (67/69) compared to the control group, which was 88.24% (60/68) ( χ2=3.98, P=0.046). At post-treatment, the study group had significantly higher FVS [(238.29±10.22) mL vs. (229.37±10.54) mL, t=5.03, P<0.001] and MVS [(436.57±12.48) mL vs. (428.23±12.75) mL, t=3.87, P<0.001], and significantly lower PVR [(5.14±1.28) mL vs. (6.96±1.21) mL, t=8.55, P<0.001] compared to the control group. At post-treatment, urodynamic parameters were significantly higher in the study group: PUM [(10.08±0.97) kPa vs. (8.54±0.73) kPa, t=10.49, P<0.001], PMUC [(8.71±0.75) kPa vs. (7.68±0.64) kPa, t=8.64, P<0.001], and BC [(396.58±30.49) mL/kPa vs. (378.86±32.91) mL/kPa, t=3.27, P<0.001]. For pelvic organ prolapse (POP-Q), the distribution were as follows: Study Group: Grade 0: 16, Grade Ⅰ: 34, Grade Ⅱ: 18, Grade Ⅲ: 1, Grade Ⅳ: 0, control Group: Grade 0: 9, Grade Ⅰ: 31, Grade Ⅱ: 23, Grade Ⅲ:5, Grade Ⅳ: 0. The difference was statistically significant ( Z=2.08, P=0.037). At post-treatment, pelvic floor muscle function was significantly higher in the study group: PFMT [(4.21±0.29) vs. (3.84±0.23), t=8.27, P<0.001], RP [(9.59±1.26) cmH?O vs. (8.34±1.17) cmH?O, t=6.02, P<0.001], and VDPT [(82.74±3.36) cmH?O vs. (77.45±3.52) cmH?O, t=9.00, P<0.001]. Conclusion:Combined pelvic magnetic therapy and pelvic floor EMG biofeedback therapy demonstrates significant efficacy in treating PFD in perimenopausal women. It markedly improves bladder function and urodynamic status.

Objective:To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS).Methods:A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). Results:Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively, 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20 respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites induding, c. 204_205insTCTC (p.V69fs), c. 412G>C (p.G138R), c. 431T>G (p.V144G), and c. 875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. Conclusion:Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.

Objective To use thermoluminescense dosimeters (TLDs) to evaluate the radiation doses to various critical organs in the computerized imaging reference systems (CIRS) 5 years old pediatric anthropomorphic phantom result ing from Varian kilovohage cone beam CT (kV-CBCT) system based on the standard scanning protocols.Effective dose were also calculated based on dose measurement.Methods A batch of TLDs with consistency no larger than 2％ were selected and annealed.First,the doses in an anthropomorphic pelvic phantom were measured using a CT chamber and TLDs,respectively,based on the standard pelvic protocols.The ratio of the both measurements is the TLD conversion coefficient.Other TLDs from the same batch were placed between two tissue-equivalent inserts and placed into the pre-drilled organ cavities of the pediatric phantom.By using standard protocols,the organs dose were measured,based on which the corresponding effective doses were calculated.Results The TLD conversion coefficient was 3.91 mGy/per reading.By using the standard head,low-dose thorax,pelvis protocol,the whole body effective dose was 0.63,6.85 and 19.3 mSv,respectively.Conclusions It is feasible for using the CT chamber-calibrated TLDs to measure the radiation doses from kV-CBCT to pediatric anthropomorphic phantom.The effective dose in pelvic protocol was higher than in thorax and head protocol,indicating that the pelvic protocol has a penitential to lead to larger radiation damage and higher risk of secondary cancer.

Objective To standardize the uncertainty assessment work of nationwide radiological technical service institutions in respect to individual dose monitoring, to enhance the relevant capability and to ensure the quality of assessment. Methods The 2017 nationwide individual dose monitoring assessment for external exposure was carried out, and the problems found in uncertainty assessment in the submitted reports were analyzed and summarized. Results A total of 259 personal dose monitoring technical service institutions submitted their completed assessment reports and verification/calibration certificates. The accuracy rate of Class A uncertainty evaluation was 20.8％ and that of class B 55.2％ for calibration, 50.6％ for energy response, 25.5％ for angle ring and 51.4％ non-linearity response, respectively. The accuracy rate of effective digits of the estimated values and their uncertainty was 30.4％. Conclusions The ability of these individual dose monitoring institutions to assess uncertainties remains to be improved. It is recommended to enhance systematic training of the institutions with respect to uncertainty evaluation and to standardize the assessment reports, so as to improve the accuracy of the monitoring result and the quality of accuracy reporting.