1.Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
Yue JIANG ; An SONG ; Jiajia WANG ; Xinqi CHENG ; Jing YANG ; Yan JIANG ; Mei LI ; Weibo XIA ; Xiaoping XING ; Min NIE ; Ou WANG
Osteoporosis and Sarcopenia 2025;11(1):22-28
Objectives:
Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study.
Methods:
Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting.
Results:
Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed.
Conclusions
In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.
2.Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
Yue JIANG ; An SONG ; Jiajia WANG ; Xinqi CHENG ; Jing YANG ; Yan JIANG ; Mei LI ; Weibo XIA ; Xiaoping XING ; Min NIE ; Ou WANG
Osteoporosis and Sarcopenia 2025;11(1):22-28
Objectives:
Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study.
Methods:
Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting.
Results:
Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed.
Conclusions
In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.
3.Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
Yue JIANG ; An SONG ; Jiajia WANG ; Xinqi CHENG ; Jing YANG ; Yan JIANG ; Mei LI ; Weibo XIA ; Xiaoping XING ; Min NIE ; Ou WANG
Osteoporosis and Sarcopenia 2025;11(1):22-28
Objectives:
Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study.
Methods:
Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting.
Results:
Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed.
Conclusions
In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.
4.Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
Yue JIANG ; An SONG ; Jiajia WANG ; Xinqi CHENG ; Jing YANG ; Yan JIANG ; Mei LI ; Weibo XIA ; Xiaoping XING ; Min NIE ; Ou WANG
Osteoporosis and Sarcopenia 2025;11(1):22-28
Objectives:
Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study.
Methods:
Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting.
Results:
Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed.
Conclusions
In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.
5.Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
Yue JIANG ; An SONG ; Jiajia WANG ; Xinqi CHENG ; Jing YANG ; Yan JIANG ; Mei LI ; Weibo XIA ; Xiaoping XING ; Min NIE ; Ou WANG
Osteoporosis and Sarcopenia 2025;11(1):22-28
Objectives:
Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study.
Methods:
Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting.
Results:
Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed.
Conclusions
In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.
6.Improvement effect of rehabilitation nursing based on IKAP theory on patients with urinary incontinence after radical prostatectomy.
Ting-Ting XIA ; Wen-Fang CHEN ; Jie LIU ; Xiao-Wen TAN ; Juan LI ; Yan-Yan ZHANG ; Yu-Mei CAO ; Song XU ; Ting-Ling ZHANG
National Journal of Andrology 2025;31(5):438-443
OBJECTIVE:
To explore the improvement effect of rehabilitation nursing based on information-knowledge-belief-behavior (IKAP) theory on urinary incontinence patients after radical prostatectomy.
METHODS
Sixty-six patients with urinary incontinence who received robot-assisted laparoscopic radical prostatectomy in General Hospital of Eastern Theater Command from January 2021 to January 2023 were selected and divided into control group (n=33) and observation group (n=33) according to random number table method. The patients in the control group were treated with rehabilitation nursing. The patients in the observation group were treated with rehabilitation nursing guided by IKAP theory. The recovery of urinary incontinence, duration of urinary incontinence, subjective well-being, quality of life, psychological and emotional indexes of patients in the two groups were compared. Results: The total effective rate of urinary incontinence recovery in the observation group was significantly higher than that in the control group (90.91% vs 60.61%,P<0.05). The duration of urinary incontinence in the observation group was significantly shorter than that in the control group ([3.36±1.54]d vs [4.15±1.36]d,P<0.05). And the subjective well-being score in observation group was significantly higher than that in the control group ([19.36±2.69]points vs [11.65±2.65]points, P<0.05). There was no significant difference in preoperative physical function, social function,and mental health scores between the two groups (P>0.05). And all scores in the observation group were significantly higher than those in the control group after surgery (P<0.05). There was no significant difference in the preoperative SAS and SDS scores between the two groups of patients (P>0.05). And the scores of SAS and SDS in observation group were lower than those of the control group after the operation (P<0.05). Conclusion: Rehabilitation nursing based on IKAP theory can significantly improve urinary incontinence in patients with prostate cancer after surgery, which promotes the recovery of urinary incontinence, shortens the time of urinary incontinence, and improves the subjective well-being and quality of life, as well as reduces the negative impact of negative emotions. Therefore, it can be widely promoted and implemented in clinical practice.
Humans
;
Prostatectomy/adverse effects*
;
Urinary Incontinence/etiology*
;
Male
;
Quality of Life
;
Rehabilitation Nursing
;
Middle Aged
;
Aged
7.Expert consensus on the prevention and treatment of enamel demineralization in orthodontic treatment.
Lunguo XIA ; Chenchen ZHOU ; Peng MEI ; Zuolin JIN ; Hong HE ; Lin WANG ; Yuxing BAI ; Lili CHEN ; Weiran LI ; Jun WANG ; Min HU ; Jinlin SONG ; Yang CAO ; Yuehua LIU ; Benxiang HOU ; Xi WEI ; Lina NIU ; Haixia LU ; Wensheng MA ; Peijun WANG ; Guirong ZHANG ; Jie GUO ; Zhihua LI ; Haiyan LU ; Liling REN ; Linyu XU ; Xiuping WU ; Yanqin LU ; Jiangtian HU ; Lin YUE ; Xu ZHANG ; Bing FANG
International Journal of Oral Science 2025;17(1):13-13
Enamel demineralization, the formation of white spot lesions, is a common issue in clinical orthodontic treatment. The appearance of white spot lesions not only affects the texture and health of dental hard tissues but also impacts the health and aesthetics of teeth after orthodontic treatment. The prevention, diagnosis, and treatment of white spot lesions that occur throughout the orthodontic treatment process involve multiple dental specialties. This expert consensus will focus on providing guiding opinions on the management and prevention of white spot lesions during orthodontic treatment, advocating for proactive prevention, early detection, timely treatment, scientific follow-up, and multidisciplinary management of white spot lesions throughout the orthodontic process, thereby maintaining the dental health of patients during orthodontic treatment.
Humans
;
Consensus
;
Dental Caries/etiology*
;
Dental Enamel/pathology*
;
Tooth Demineralization/etiology*
;
Tooth Remineralization
8.Associations between Pesticide Metabolites and Decreased Estimated Glomerular Filtration Rate Among Solar Greenhouse Workers: A Specialized Farmer Group.
Teng Long YAN ; Xin SONG ; Xiao Dong LIU ; Wu LIU ; Yong Lan CHEN ; Xiao Mei ZHANG ; Xiang Juan MENG ; Bin Shuo HU ; Zhen Xia KOU ; Tian CHEN ; Xiao Jun ZHU
Biomedical and Environmental Sciences 2025;38(2):265-269
9.Application effects of soft silicone silver ion foam dressing in the treatment of scalp donor site wounds in burn patients
Peng WANG ; Chengxin XU ; Xiaochen SUN ; Xia WEI ; Mei SONG
Chinese Journal of Plastic Surgery 2024;40(1):76-81
Objective:Exploring the clinical effects of silicone silver ion foam dressing in managing scalp donor site wounds in burn patients.Methods:A retrospective analysis was conducted on the clinical data of burn patients admitted to the 940th Hospital of Joint Logistics Support Force of PLA from January 2020 to January 2023. Patients underwent intraoperative harvesting of split-thickness skin grafting to repair deep burn wounds, with the denuded scalp area covered by either silicone silver ion foam dressing (Group A) or petrolatum gauze (Group B). Comparison of the following 5 parameters between the two groups: (1) Postoperative wound healing time. (2) Initial dressing change pain score was assessed using the numeric rating scale (NRS). 0 points indicated no pain, 1-3 points indicated mild pain, 4-6 points indicated moderate pain, and 7-10 points indicated severe pain. (3) Number of dressing changes. (4) Secondary trauma score, with a total score ranging from 1 to 3, where a higher score indicates more severe trauma. (5) Proportion of wounds healed to grade A (number of grade A healed cases/total number of cases in each group×100%). Depending on the data type, between-group comparisons were performed using t-test, Wilcoxon rank-sum test, or chi-square test. P<0.05 was considered a statistically significant difference. Results:A total of 60 patients, with 30 in each Group A and Group B, were included in the study. Group A was comprised of 18 males and 12 females, with an average age of (29.4±16.6) years. The burn area was (21.43±5.66)% of the total body surface area (TBSA), and the area of skin taken from the scalp was (1.80±0.61)% of TBSA. Group B was comprised of 20 males and 10 females, with an average age of (30.2±16.2) years. The burn area was (21.37±5.67)% of TBSA, and the area of skin taken from the scalp was (1.78±0.63)% of TBSA. No statistically significant differences were observed in gender distribution, age, burn area, and scalp area between the two groups( P>0.05). The wound healing time in the denuded scalp area was shorter in Group A than in Group B [(5.97±0.41) days vs. (6.93±0.58) days, t=-7.40, P<0.001]. The initial NRS pain score during dressing change was lower in Group A than in Group B [3.0 (2.0, 4.0) points vs. 5.5 (4.0, 6.0) points, Z=-4.82, P<0.001]. Group A had fewer frequency of dressing changes compared to Group B [2 (2, 2) vs. 4 (3, 5), Z=-6.64, P<0.001]. The secondary injury score was lower in Group A than in Group B [1 (1, 1) points vs. 3 (3, 3) points, Z=-7.08, P<0.001]. The proportion of grade A healing was 96.7% (29/30) in Group A and 90.0% (27/30) in Group B, with no statistically significant difference between the two groups ( χ2=0.27, P=0.605). Conclusion:The application of silicone silver ion foam dressing to cover the denuded scalp area of burn patients significantly improves therapeutic efficacy compared to petrolatum gauze. It can shorten wound healing time, reduce the frequency of dressing changes, alleviate pain, minimize the occurrence of secondary injuries, and enhance patient comfort.
10.Application effects of soft silicone silver ion foam dressing in the treatment of scalp donor site wounds in burn patients
Peng WANG ; Chengxin XU ; Xiaochen SUN ; Xia WEI ; Mei SONG
Chinese Journal of Plastic Surgery 2024;40(1):76-81
Objective:Exploring the clinical effects of silicone silver ion foam dressing in managing scalp donor site wounds in burn patients.Methods:A retrospective analysis was conducted on the clinical data of burn patients admitted to the 940th Hospital of Joint Logistics Support Force of PLA from January 2020 to January 2023. Patients underwent intraoperative harvesting of split-thickness skin grafting to repair deep burn wounds, with the denuded scalp area covered by either silicone silver ion foam dressing (Group A) or petrolatum gauze (Group B). Comparison of the following 5 parameters between the two groups: (1) Postoperative wound healing time. (2) Initial dressing change pain score was assessed using the numeric rating scale (NRS). 0 points indicated no pain, 1-3 points indicated mild pain, 4-6 points indicated moderate pain, and 7-10 points indicated severe pain. (3) Number of dressing changes. (4) Secondary trauma score, with a total score ranging from 1 to 3, where a higher score indicates more severe trauma. (5) Proportion of wounds healed to grade A (number of grade A healed cases/total number of cases in each group×100%). Depending on the data type, between-group comparisons were performed using t-test, Wilcoxon rank-sum test, or chi-square test. P<0.05 was considered a statistically significant difference. Results:A total of 60 patients, with 30 in each Group A and Group B, were included in the study. Group A was comprised of 18 males and 12 females, with an average age of (29.4±16.6) years. The burn area was (21.43±5.66)% of the total body surface area (TBSA), and the area of skin taken from the scalp was (1.80±0.61)% of TBSA. Group B was comprised of 20 males and 10 females, with an average age of (30.2±16.2) years. The burn area was (21.37±5.67)% of TBSA, and the area of skin taken from the scalp was (1.78±0.63)% of TBSA. No statistically significant differences were observed in gender distribution, age, burn area, and scalp area between the two groups( P>0.05). The wound healing time in the denuded scalp area was shorter in Group A than in Group B [(5.97±0.41) days vs. (6.93±0.58) days, t=-7.40, P<0.001]. The initial NRS pain score during dressing change was lower in Group A than in Group B [3.0 (2.0, 4.0) points vs. 5.5 (4.0, 6.0) points, Z=-4.82, P<0.001]. Group A had fewer frequency of dressing changes compared to Group B [2 (2, 2) vs. 4 (3, 5), Z=-6.64, P<0.001]. The secondary injury score was lower in Group A than in Group B [1 (1, 1) points vs. 3 (3, 3) points, Z=-7.08, P<0.001]. The proportion of grade A healing was 96.7% (29/30) in Group A and 90.0% (27/30) in Group B, with no statistically significant difference between the two groups ( χ2=0.27, P=0.605). Conclusion:The application of silicone silver ion foam dressing to cover the denuded scalp area of burn patients significantly improves therapeutic efficacy compared to petrolatum gauze. It can shorten wound healing time, reduce the frequency of dressing changes, alleviate pain, minimize the occurrence of secondary injuries, and enhance patient comfort.

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