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.

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.

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.

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.

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.

Objective: To investigate the preliminary screening results of Alzheimer's disease (AD) among the elderly in Ningbo City, Zhejiang Province and analyze the influencing factors, so as to provide insights into prevention and control of AD in the elderly. Methods: A multi-stage stratified proportional sampling method was used to select the registered residents aged 60 years and older in Ningbo City as subjects. Demographic characteristics, lifestyle factors, physical conditions and social activities of the subjects was evaluated with questionnaires. AD was screened using the Mini-Mental State Examination (MMSE), and factors affecting the positive rate of AD preliminary screening were identified using a multivariable logistic regression model. Results: A total of 34 027 elderly residents were investigated, with an mean age of (71.71±6.89) years. There were 15 115 males (44.42%) and 18 912 females (55.58%), 16 146 residents living in rural areas (47.45%) and 17 881 residents living in urban areas (52.55%). The positive rate of AD preliminary screening was 7.28% (2 476 cases). Multivariable logistic regression analysis showed that age (70 to 74 years, OR=1.357; 75 to 79 years, OR=1.807; 80 to 84 years, OR=2.782; 85 years and older, OR=4.907), gender (female, OR=1.118), residence (urban areas, OR=0.713), marital status (unmarried, OR=3.078; widowed/separated/divorced, OR=1.301), educational level (primary school, OR=0.629; junior high school and above, OR=0.609), occupation before retirement (others, OR=0.741), family genetic history (no, OR=0.651), household disposable monthly income (1 000 to 1 999 Yuan, OR=0.636; 2 000 to 2 999 Yuan, OR=0.569; 3 000 Yuan and above, OR=0.448), exercise (seldom, OR=0.855; regular, OR=0.780), number of chronic diseases (2~5, OR=1.328), hearing loss (no, OR=0.764), smell loss (no, OR=0.615), chronic constipation (no, OR=0.696), major negative life events (no, OR=0.804), subjective memory loss (no, OR=0.583), sleep quality (general, OR=0.640; good, OR=0.616), living style (living with spouse, OR=0.300; living alone, OR=0.315; living with children, OR=0.350) and social activities (2-3 times/week, OR=0.584; 4 times/week and more, OR=0.409) were factors affecting the positive rate of AD preliminary screening. Conclusions The positive rate of AD preliminary screening among the elderly in Ningbo City is relatively high. Age, gender, economic conditions, exercise, social activities and physical conditions were factors affecting the positive rate of AD preliminary screening.

OBJECTIVE: The design and development of split memory alloy sternum bone plate are discussed, and the effect of split memory alloy sternum bone plate internal fixation in the treatment of sternal fractures are analysed. METHODS: The structure of the product is designed according to the anatomy and physiological characteristics of human bones, and the cross section shape of the product is designed according to the cross section shape of human bones. Internal fixation is effective in the treatment of sternal fracture. RESULTS: The split memory alloy sternal plate was successfully designed and developed, and all the patients with sternal fractures treated by internal fixation were clinically healed, the hospitalization and fracture healing time were significantly shortened, and no obvious complications occurred. CONCLUSIONS The application of split memory alloy sternal plate internal fixation in the treatment of sternal fracture has the advantages of small trauma, simple operation, safety, reliable fixation, good histocompatibility and less complications, and is conducive to promoting fracture healing and respiratory function improvement.
Alloys ; Bone Plates ; Fracture Fixation, Internal ; Fracture Healing ; Humans ; Sternum/surgery*

OBJECTIVE: To analyze the characteristics of noise hazard in a nuclear power station. METHODS: The workplaces and working posts which exposed to occupational noise from two 1 000 MW power units in one nuclear power station in Guangdong Province was selected as study subjects using the convenience sampling method. Occupational health survey, noise measurement in the workplace and personal noise dosage measurement were used to monitor noise exposure, and to analyze the characteristics of occupational noise in the nuclear power station. RESULTS: The noise sources of the nuclear power plant were mainly distributed in the nuclear island, conventional island, and peripheral workshops. A total of 237 points of noise intensity were measured in the workplace. The intensity of noise ranged from 66.0 to 99.6 dB(A). The noise intensity in 62.4%(148/237) of points was equal or greater than 80.0 dB(A) and 34.2%(81/237) equal or greater than 85.0 dB(A). The percentage of detection points with noise intensity was equal or greater than 85.0 dB(A) from low to high were nuclear island, conventional island, and peripheral workshops with 22.0%, 37.5% and 53.8% respectively(P<0.01). The personal noise intensity of three positions including inspectors of operation department, preparation and main engine positions of mechanical department exceeded the occupational exposure limit(OEL), and the percentage of positions whose noise intensity exceeded the OEL was 9.7%(3/31). CONCLUSION: High-intensity noise sources of the nuclear power plant are widely distributed in the workshop areas of nuclear island, conventional island, and peripheral workshops. The noise level of some positions exceeded the standards of noise intensity. The prevention and control measures of noise hazards in posts with excessive noise should be strengthened.

Objective To investigate whether there are differences in the detection of biochemical items such as electrolytes , total protein and urea between arterial plasma and venous plasma .Methods Self paired design was used to compare and study the biochemical results of different samples .70 samples ( 36 samples from male patients and 34 from female patients ) that were performed with both arterial blood gas analysis and biochemical item test of venous blood in Clinical Laboratory of Peking Union Medical College Hospital during the period from June to September of 2017 were collected.18 biochemical items like electrolytes in arterial blood and venous blood were synchronously detected by automatic biochemical analyzer.Statistic analyses were carried out by SPSS 18.00.Whether the deviation was of clinic significance was determined by National Health Standards ( WS/T 403-2012 ) and the total error admitted by Royal Society of Pathology of Australia .Regression analysis of Passing-Bablok was performed by MedCalc software . The difference between the results of different samples was investigated by drawing Bland -Altman diagram.Results The results of Ca, Cl, K, Na, P, TP, ALB, ALT, AST, LDH, Glu, Cr, Urea, TG, CHO, UA, CHE, TBA in the samples of arterial blood plasma were 2.46(2.25-2.56) mmol/L,(105.68 ±7.29)mmol/L, 3.81(3.54-4.03) mmol/L, 140.45(137.08-144.20) mmol/L, 0.97(0.77-1.11) mmol/L,(60.39 ±9.40)g/L,(31.23 ±6.81)g/L, 17.4(11.95 -30.05)U/L, 20.85(14.9 -34.03) U/L, 210.1(163.15-342.60) U/L, 7.58(5.95-10.04) mmol/L, 76.35(51.05-110.7) μmol/L, 6.94(3.98-11.08) mmol/L, 1.15(0.84-1.89) mmol/L, 3.31(2.73-4.35) mmol/L, 271.55(187.78-423.30) μmol/L,(4.71 ±2.17)KU/L, 2.19(1.09 -4.19) μmol/L,respectively, and 2.24(2.05-2.35) mmol/L,(103.98 ±7.32)mmol/L, 3.84(3.58 -4.19) mmol/L, 139.30(136.08 -142.33) mmol/L, 0.99(0.78-1.14) mmol/L,(60.37 ±9.67) g/L,(32.62 ±6.89) g/L, 17.6(12.75-31.2) U/L, 20.6(15.28-36.6) U/L, 233.95(176.48-363.75) U/L, 7.55(5.62-9.52) mmol/L, 77.15 (56.08-111.98) μmol/L, 6.94(3.97 -10.53) mmol/L, 1.13(0.83 -1.93) mmol/L, 3.23(2.71-4.37) mmol/L, 273.4(187.30-401.55) μmol/L,(4.74 ±2.21) KU/L, 2.29(1.02 -4.23) μmol/L respectively in the samples of venous blood plasma .The difference of results of TP、Glu、Cr、TG、CHE、TBA between two types of samples were of no statistic significance ( the values of t or Z were 0.121,-0.054,-0.269,-0.480,-1.730 and -1.843 respectively, P>0.05), among these items the difference of Glu was of notable clinical significance (>1/2 TE percentage:50％).The difference of results of Ca , Cl, K, Na, P, ALB, ALT, AST, LDH, Urea, CHO, UA between two types of samples were of statistic significance (the values of t or Z were -7.115,6.794,-2.119,-4.996,-3.483,-8.839,-2.419,-2.742,-3.833,-5.010,-2.060 and -2.467 respectively, P<0.05), among these items the difference of Urea, CHO, UA, Na, P and ALT was of no notable clinical significance ( >total TE percentage: 0％, 2.86％, 0％, 2.9％, 4.3％, 1.43％ respectively), while the difference of Ca, Cl, K, ALB, AST and LDH was of clinical significance (>total TE percentage:90％, 10％, 14.3％, 32.9％, 10.00％, 32.9％respectively).Conclusions The differences in the detected data of some biochemical items between venous plasma and arterial plasma demonstrated clinical significance .When detecting those biochemical items , clinicians should pay attention to the selection of arterial blood sample .It should be considered to establish a reference interval for related biochemical items of arterial blood when necessary .

INTRODUCTIONKnowing how patients value the quality of anaesthesia helps anaesthesiologists to customise their service. However, generalising findings from Western population-based willingness-to-pay studies across different cultures and societies might result in the oversight of some contextualised perspectives of the anaesthesia experience. This study aimed to capture the Singapore perspective of undesired post-anaesthesia outcomes.

METHODS132 patients recruited in a pre-anaesthetic evaluation clinic were given questionnaires describing ten possible post-anaesthetic outcomes. Outcomes were ranked for undesirability and assigned relative value through the hypothetical proportioning of SGD 100 to avoid their occurrence. Data was analysed with reference to patients' background and anaesthetic history.

RESULTSA response rate of 69.1% (n = 132/191) was achieved. Outcomes from the most to least undesirable were pain; vomiting; nausea; shivering; orodental trauma; sore throat; abrasions; somnolence; and thirst. Relative values allocated, in descending order, were pain; vomiting; nausea; orodental trauma; abrasions; sore throat; shivering; somnolence; and thirst.

CONCLUSIONSimilar to previous studies in Western populations, pain, vomiting and nausea were the top three adverse outcomes that Singapore patients wished to avoid. However, discrepancies with Western patients were seen in spending attitudes, possibly accounted for by differences in healthcare socioeconomics. This study provided a better understanding of Singapore patients' perspectives on post-anaesthesia adverse outcomes and could help to improve treatment strategy and resource management.

Adult ; Aged ; Aged, 80 and over ; Anesthesia ; adverse effects ; Anesthesiology ; methods ; Anesthetics ; Attitude to Health ; Female ; Health Care Costs ; Humans ; Language ; Male ; Middle Aged ; Pain ; etiology ; Postoperative Nausea and Vomiting ; Postoperative Period ; Singapore ; Surveys and Questionnaires ; Treatment Outcome ; Young Adult