1.Mediating role of medical coping strategies in the relationship of perceived social support and resilience in patients with occupational pneumoconiosis
Xiaoli ZENG ; Xinxiang QIU ; Xiaoyuan LIN ; Lvqin WEN ; Yan ZENG
China Occupational Medicine 2024;51(5):544-549
Objective To investigate the mediating role of medical coping strategies in the relationship between perceived social support and resilience among patients with occupational pneumoconiosis (hereinafter referred to as pneumoconiosis). Methods A total of 240 pneumoconiosis patients were selected as the study subjects using the convenience sampling method. The Perceived Social Support Scale, the 10-item Connor-Davidson Resilience Scale and Medical Coping Strategies Questionnaire were used to evaluate their perceived social support, resilience and medical coping strategies. AMOS 26.0 software was used to construct the structural equation model. Results The average scores of perceived social support and resilience were (56.6±0.9) and (20.9±7.5), respectively. The scores for the dimensions of confrontation, avoidance and resignation of medical coping strategies were (20.2±3.6), (11.2±3.1) and (18.1±2.9), respectively. The score of resilience was positively correlated with the score of perceived social support, avoidance dimension and confrontation dimension of medical coping strategies (r=0.260, 0.176, 0.174, all P<0.01). It was negatively correlated with resignation coping (r=-0.292, P<0.01). The results of mediating effect test showed that the total effect of perceived social support on resilience was 0.252 [95% confidence interval (CI) was 0.056-0.448], which mainly affected the resilience by affecting the resignation coping (95%CI: -0.458 to -0.104), with the indirect effect value of 0.120, accounting for 47.6% of the total effect. Conclusion The resilience of pneumoconiosis patients is moderately low. Resignation coping in medical coping strategies plays a mediating role between perceived social support and resilience in pneumoconiosis patients.
2.Serum hepatitis B virus pregenomic RNA profiles in patients with chronic hepatitis B on long-term antiviral therapy
Jiali PAN ; Hao LUO ; Xiaxia ZHANG ; Yifan HAN ; Hongyu CHEN ; Zhan ZENG ; Xiaoyuan XU
Chinese Journal of Hepatology 2024;32(1):16-21
Objective:To explore the clinical changes in levels of the new clinical marker serum hepatitis B virus (HBV) pregenomic RNA (pgRNA) in patients with chronic hepatitis B (CHB) with long-term antiviral therapy.Methods:100 CHB cases who were initially treated with nucleos(t)ide analogues (NAs) at Peking University First Hospital were included. The levels of alanine aminotransferase (ALT), HBV DNA, hepatitis B e-antigen (HBeAg), and hepatitis B surface antigen (HBsAg) during the follow-up period were measured. The TaqMan-based real-time quantitative PCR method was used to detect serum HBV pgRNA levels. The independent sample t-test and Mann-Whitney U test were used to compare continuous variables between groups, while Pearson's χ2 test and Fisher's exact test were used to compare categorical variables. Results:HBV pgRNA levels decreased significantly in patients who developed virological responses at 48 weeks ( n = 54) during subsequent treatment compared to those who did not ( n = 46). The HBV pgRNA level was lower in HBeAg-positive patients than in HBeAg-negative patients ( P < 0.05 or P < 0.01). Patients with higher HBV DNA and HBeAg-positivity levels at baseline had a higher HBV pgRNA level following antiviral therapy. There was no statistically significant difference in HBV pgRNA levels in patients with different HBV pgRNA levels at baseline after antiviral therapy. There was no correlation between serum HBV pgRNA and HBsAg at baseline, but there was a correlation after long-term antiviral therapy, while there was a weak correlation between HBV pgRNA and HBsAg at the fifth and ninth years of antiviral therapy ( r = 0.262, P = 0.031; r = 0.288, P = 0.008). Conclusion:HBV pgRNA levels were higher with higher HBV activity in CHB patients with long-term antiviral therapy.
3.Methods and clinical effects of reconstructing facial and cervical scars with expanded flaps based on the "MLT" principle
Mingqiu TAO ; Mitao HUANG ; Pengfei LIANG ; Minghua ZHANG ; Pihong ZHANG ; Zhiyou HE ; Jizhang ZENG ; Jie ZHOU ; Xu CUI ; Le GUO ; Situo ZHOU ; Yan YANG ; Tinghong XIE ; Xiaoyuan HUANG
Chinese Journal of Burns 2024;40(7):657-664
Objective:To explore the methods and clinical effects of reconstructing facial and cervical scars with expanded flaps based on the "MLT" principle.Methods:The study was a retrospective observational study. From January 2019 to May 2022, 74 patients with facial and cervical scars after burn or trauma injuries who met the inclusion criteria were admitted to Xiangya Hospital of Central South University, including 38 males and 36 females, aged from 5 to 58 years, including 24 patients with simple facial involvement, 24 patients with simple cervical involvement, and 26 patients with both facial and cervical involvement, with scar area ranging from 12 to 145 cm2. By following the "MLT" principle (color and texture similar to the face; flap area large enough to reconstruct the entire defect; skin tissue thin enough to transmit the expression, so as to facilitate the shape of the face and five features); in the stage Ⅰ surgery, the skin and soft tissue expanders (hereinafter referred to as the expanders) were implanted, and in the stage Ⅱ surgery, the expander removal+scar resection+flap transplantation to repair the secondary wound was performed, and the wound in the donor area of flap was directly sutured. After operation, silicone gel preparation and laser therapy were used to prevent scar hyperplasia. The expansion ratio and time period of expanders, the occurrence of complications of skin and soft tissue expansion surgery, the type of flap used, and the survival of flap after the stage Ⅱ surgery were observed and recorded. The long-term effect of facial and cervical reconstruction and the recovery of donor area and recipient area of flap were evaluated during the postoperative follow-up after surgery.Results:The expansion ratio of 135 expanders ranged from 1.36 to 3.00 times, and the expansion time period ranged from 6 to 14 months. During skin and soft tissue expansion surgery, 8 patients had poor healing of incisions after expander placement, 7 patients had expander rupture, 5 patients had infection in incisions after expander placement, 3 patients had expander exposure, 2 patients had difficult filling the injection pot, and 1 patient had water leakage from the injection pot. Dorsal shoulder expanded flaps with double blood supply of transverse cervical artery and circumflex scapular artery were used in 8 patients, the expanded flaps of anterior transverse carotid artery perforator were used in 11 patients, the expanded flaps of internal thoracic artery perforator were used in 12 patients, tandem expanded flaps of upper chest and neck were used in 16 patients, dorsal thoracic artery perforator expanded flaps were used in 5 patients, and adjacent rotary propulsive expanded flaps were used in 22 patients. After the stage Ⅱ surgery, the flaps of 71 patients were completely survived. One patient had blood circulation disorder in the flap, and the flap survived after hyperbaric oxygen treatment. Necrosis occurred at the end of the flaps in 2 patients, which healed after dressing change. After the surgery, 42 patients were followed up for 3 to 24 months. The color, texture, and thickness of flaps were good and similar to the surrounding normal skin tissue in the recipient area, the appearance and function of the face and neck were significantly improved, and the wound location in the donor and recipient areas of flaps was concealed with slight scar formation.Conclusions:In the reconstruction of facial and neck scars, by following the "MLT" principle, the expanded flap was carefully designed before surgery, the local aesthetic features within the subunit are reconstructed during the stage Ⅱ surgery, and standard anti-scar treatment measures are actively adopted after surgery. After reconstruction, the color, texture, and thickness of flaps were close to the normal skin in face and neck, and the appearance and function of face and neck are significantly improved, with less linear scars left. It is beneficial to improve the therapeutic effect.
4.Evaluation of colloidal gold method for detection of HIV-1 antibody in the urine
Zhen NI ; Xiaoyuan HU ; Changyu ZENG ; Xuan GAO ; Mingjian NI
Shanghai Journal of Preventive Medicine 2023;35(9):899-904
ObjectiveTo verify and promote the HIV antibody urine test in a demonstration zone for HIV prevention and control in Xinjiang, and to assess the sensitivity and specificity of the test and the willingness of the volunteers, providing a basis for evaluating and determining whether it was suitable for large-scale use in the region. MethodsStratified cluster sampling was used to select the respondents in a place in Xinjiang for questionnaire survey and sample collecting. Questionnaire results were statistically described, and multivariate logistic regression analysis was used to explore the influencing factors of willingness to use HIV-1 urine test. The results of blood ELISA antibody detection method were used as a reference to calculate the specificity, sensitivity and Kappa value of urinary HIV-1 antibody in the total population and different populations. ResultsA total of 2 504 volunteers were recruited for the urine self-testing. The sensitivity of HIV-1 antibody urine test in the total population was 94.73% (54/57), the specificity was 100% (2 447), the positive predictive value was 100% (54/54), and the negative predictive value was 99.88% (2 447/2 450). The specificity of each population group was 100% when comparing different populations. The test sensitivity was 100% in pregnant women, prostitutes and drug users, 50% (1/2) in MSM subjects, with a Kappa value of 0.796. The test sensitivity was 80% (8/10) in the volunteers, with a Kappa value of 0.878. In the satisfaction survey, 73.1% population was more likely to receive urinary rapid test than the blood fast test, 93.8% of the population was willing to recommend the rapid urinary detection to other people. More than 70% of the population was satisfied with the rapid urinary detection. The multivariate logistic regression analysis showed that age, degree of education, occupation, marital status, payment method of medical expenses, and income level were the influence factors of the purchase of urine fast reagent for the self-testing (P<0.05). ConclusionUrinary HIV-1 antibody detection method has good reliability and public satisfaction. It is suitable for large-scale use in Xinjiang.
5.Repair methods of complex facial defect wounds involving paranasal sinuses and their clinical effectiveness
Pengfei LIANG ; Xisheng XU ; Pihong ZHANG ; Changlong BI ; Hua ZHANG ; Mitao HUANG ; Zhiyou HE ; Jizhang ZENG ; Yun HUANG ; Jia LI ; Xu CUI ; Situo ZHOU ; Minghua ZHANG ; Xiaoyuan HUANG
Chinese Journal of Burns 2023;39(3):221-227
Objective:To explore the repair methods of complex facial defect wounds involving paranasal sinuses and their clinical effectiveness.Methods:A retrospective observational study was conducted. From January 2020 to May 2022, 5 patients admitted to the Department of Burns and Plastic Surgery of Xiangya Hospital of Central South University and 4 patients admitted to the Department of Burns and Plastic Surgery of Chenzhou First People's Hospital with complex facial defect wounds involving paranasal sinuses met the inclusion criteria, including 6 males and 3 females, aged 35-69 years, including 4 patients with titanium mesh exposure combined with paranasal sinuses injury and 5 patients with tumor involving paranasal sinuses. After an adequate assessment of the damage by a multiple discipline team, titanium mesh removal, paranasal sinus debridement, and paranasal sinus mucosa removal were performed in patients with exposed titanium mesh, and radical tumor resection was performed in patients with tumors, with postoperative skin and soft tissue defects areas of 5.0 cm×2.5 cm to 18.0 cm×7.0 cm, anterior paranasal sinus wall defects/absence areas of 3 cm×2 cm to 6 cm×4 cm, and sinus cavity depths of 1 to 4 cm. Depending on the perforator course of the descending branch of the lateral circumflex femoral artery, the anterolateral femoral chimeric flap or anterolateral femoral myocutaneous flap (with flap area of 9 cm×4 cm to 19 cm×8 cm, muscle size of 5 cm×3 cm×3 cm to 11 cm×6 cm×3 cm) was transplanted to repair the defect, and the donor site wound was sutured directly. The type of tissue flap transplanted, the blood vessel of the recipient area, and the vascular anastomosis way during the operation, the recovery of the donor and recipient areas and the occurrence of complications after operation were observed. The appearance and blood supply of the recipient area and the recurrence of ulcers and tumors were followed up.Results:The anterolateral femoral myocutaneous flap transplantation was performed in 6 patients, and the anterolateral femoral chimeric flap transplantation was performed in 3 patients. The blood vessels in recipient areas were facial arteries and veins in 3 cases and superficial temporal arteries and veins in 6 cases. The superficial temporal arteries and veins were bridged with blood vessels in tissue flaps by flow-through way in 2 patients, and end-to-end anastomosis of blood vessels in donor and recipient areas was performed in 7 patients. After operation, all the tissue flaps survived, and the facial defect wounds were well repaired without cerebrospinal fluid leakage or paranasal sinus secretion leakage, no intracranial infection occurred, and the wounds in donor areas were healed well. Follow-up of 6-35 months after operation showed that all the patients had good blood supply in the recipient area, and the shape was acceptable; 4 patients with exposed titanium mesh had no recurrence of ulceration, and 5 patients with tumor had no local tumor recurrence or metastasis.Conclusions:Based on an adequate assessment of the extent of paranasal sinuses involved in the facial wound and the nature of the defect, good clinical effects can be achieved by using the anterolateral femoral muscle flap or the anterolateral femoral chimeric flap transplantation to repair complex facial defect wounds with open paranasal sinuses.
6.Quantification of the iduronate-2-sulfatase activity in prenatal diagnosis of mucopolysaccharidosis type Ⅱ
Xiaoyuan ZHAO ; Wen ZHANG ; Yonglan HUANG ; Xueying SU ; Xiuzhen LI ; Huiying SHENG ; Chunhua ZENG ; Xi YIN ; Zongcai LIU ; Yanna CAI ; Li LIU
Chinese Journal of Applied Clinical Pediatrics 2022;37(24):1879-1882
Objective:To evaluate the activity of iduronate-2-sulfatase (IDS) in fetal villi and peripheral blood plasma of pregnant women at high risk of mucopolysaccharidosis type Ⅱ (MPS Ⅱ), and to discuss the application of gene analysis in prenatal diagnosis of MPS Ⅱ.Methods:The enzymatic testing and gene analysis results of 23 pregnant women at high risk of MPS Ⅱ, who underwent prenatal diagnosis in Guangzhou Women and Children′s Medical Center from February 2013 to December 2020, were analyzed retrospectively.The IDS activity in fetal villi (30 cases) and plasma (28 cases) was detected by artificial substrate fluorescence.The IDS activity in fetal villi (28 cases) and plasma (34 cases) of normal pregnant women was taken as control.Meanwhile, the fetal villi of both pregnant women at high risk of MPS Ⅱ and normal pregnant women were also analyzed by gene testing and for fetal sex identification.Data were compared between groups by the independent samples t test. Results:The normal reference values of the IDS activity in fetal villi and plasma of normal pregnant women were(71.2±23.4) nmol/(mg·4 h) and (611.1±114.5) nmol/(mL·4 h), respectively.Among the 30 cases of high-risk fetal villi, the IDS activity in fetal villi of 8 affected male fetuses was (1.7±0.3) nmol/(mg·4 h), which was significantly lower than that of 11 unaffected male fetuses (83.2±6.3) nmol/(mg·4 h) and that of 9 non-carrier female fetuses (80.0±7.5) nmol/(mg·4 h) ( t=10.8, 8.8; all P<0.01). Meanwhile, the IDS activity was measured in the maternal peripheral plasma of 28 pregnant women at high risk of MPS Ⅱ.Among them, the IDS activity in 8 affected male fetuses was(225.4±20.5) nmol/(mL·4 h), which was significantly lower than that in non-affected male fetuses[(451.0±15.1) nmol/(mL·4 h)] and that in non-carrier female fetuses[(467.7±45.3)nmol/(mL·4 h)]. Eight known pathogenic mutations were found in 30 cases at high risk of MPS Ⅱ of fetal villi, and the mutation types were c. 1048A>C, c.212G>A, c.514C>T, c.257C>T, c.425C>T, and c. 998C>T.Of the 8 cases, 6 affected male fetuses had significantly reduced IDS activities, and the other 2 female carriers had normal IDS enzyme activities. Conclusions:The IDS activity in fetal villi and peripheral plasma of pregnant woman is consistent with the gene analysis results.The IDS activity has an important reference value for the prenatal diagnosis of MPS Ⅱ in the first trimester.When no genetic mutations are found in the probands or the pathogenicity of the new mutation remains unclear, the IDS activity in fetal villi can be detected separately for the prenatal diagnosis of MPS Ⅱ.
7.Clinical effects of axillary propeller flaps in reconstructing the axillary fold scar contracture
Mengting DUAN ; Pengfei LIANG ; Pihong ZHANG ; Minghua ZHANG ; Licheng REN ; Ying WU ; Jizhang ZENG ; Le GUO ; Jiaxiong HU ; Xu CUI ; Mitao HUANG ; Situo ZHOU ; Xiaoyuan HUANG
Chinese Journal of Burns 2021;37(4):377-381
Objective:To explore the clinical effects of axillary propeller flaps in reconstructing the axillary fold scar contracture.Methods:A retrospective cohort study was conducted. From July 2016 to January 2020, 11 patients with anterior axillary fold or anterior and posterior axillary fold scar contractures after burns were admitted to Xiangya Hospital of Central South University, including 7 males and 4 females, aged 8 to 48 years. The lesions involved unilateral axilla in 9 cases and bilateral axilla in 2 cases, with the joint abduction angle of the affected shoulder ranging from 25 to 100°. The axillary fold contracture scars were excised and released, resulting in wound of 8 cm×5 cm-24 cm×20 cm. According to the condition of the residual normal skin in axilla, 2, 3, and 4-leaf propeller flaps with area of 5 cm×3 cm-24 cm×10 cm were designed to repair the wounds after scar excision and release. The donor site wound was closed by suturing directly, and the residual wound that could not be completely sutured was transplanted with free full-thickness skin grafts from the inner thigh or abdomen. The application of 2, 3, and 4-leaf propeller flaps, the joint abduction angle of the affected shoulder immediately after operation, and the survival of the flaps and skin grafts after operation were recorded. The recurrence of scar contracture, the appearance of the flaps, the joint abduction angle of the affected shoulder, and the functional recovery of the affected shoulder joint and upper arm were observed through a follow-up.Results:Among the 13 axillary propeller flaps transplanted in the 11 patients in this group, there were 9 double-leaf propeller flaps, two 3-leaf propeller flaps, and two 4-leaf propeller flaps. The joint abduction angle of the affected shoulder reached 110-165° immediately after operation. All the flaps survived after operation. Nine flap donor sites were repaired with free skin grafts, with skin grafts survived in 7 flap donor sites after operation. Scar erosion in incision and small area of skin graft necrosis developed in 2 flap donor sites. One of the wounds was debrided and repaired by transplantation of split-thickness skin grafts from inner thigh, and the other wound was healed after dressing changes. A follow-up of 6 to 24 months was conducted after surgery, and all the patients had no recurrence of axillary scar contracture; the color of the flap matched the receiving area; the elasticity of flap was good; the joint abduction angle of the affected shoulder reached 120-165°, and the joint pronation and supination, upper arm lifting and circular rotation of the affected shoulder were all good.Conclusions:Reconstruction of the axillary fold scar contracture with axillary propeller flaps has good result, with better flap appearance and recovery of the shoulder joint activity and upper arm function after operation.
8.Repair methods and clinical effects of full-thickness burn wounds deep to tendon or even bone in fingers
Pengfei LIANG ; Pihong ZHANG ; Minghua ZHANG ; Jizhang ZENG ; Jie ZHOU ; Mitao HUANG ; Xu CUI ; Le GUO ; Zhuoxian YAN ; Yanqin RAN ; Situo ZHOU ; Zhiyou HE ; Xiaoyuan HUANG
Chinese Journal of Burns 2021;37(7):614-621
Objective:To explore the repair methods and clinical effects of full-thickness burn wounds deep to tendon or even bone in fingers.Methods:A retrospective non-randomized controlled trial was conducted on the 98 patients with full-thickness finger burns deep to tendon or even bone who met the inclusion criteria and were hospitalized in Xiangya Hospital of Central South University from January 2010 to December 2019. Among the 98 patients, there were 81 males and 17 females, aged from 1 to 72 years, with 160 fingers involved. The wound area of each of affected fingers ranged from 2.0 cm×1.5 cm to 12.0 cm×3.5 cm, and the maximum wound area after merging the affected fingers was 12.0 cm×10.0 cm. For adult hands with multiple full-thickness burn wounds deep to tendon or even bone in multiple fingers or children with full-thickness finger burns deep to tendon or even bone, pedicled abdominal flaps were selected. For adults with single or two fingers with full-thickness burns deep to tendon or even bone, the pedicled internal hand flaps and free tissue flaps were selected. The free tissue flap repair requires good vascular conditions in the recipient area with arteries and veins available for anastomosis. For thumb nail burns deep to tendon or even bone or partial absence of the thumb after burns, the thumbs were reconstructed with the first toenail flap or dorsal foot flap with the second toe. In this study, 45 pedicled abdominal flaps were used to repair the wounds in 91 fingers, 37 pedicled internal hand flaps were used to repair the wounds in 37 fingers, 26 free tissue flaps were used to repair the wounds in 28 fingers, 3 first toenail flaps were used to reconstruct 3 patients' thumb nails and to repair hand wounds, and 1 dorsal foot flap with the second toe was used to reconstruct 1 patient's thumb and to repair hand and wrist wounds. The tissue flap area was from 2.0 cm×1.5 cm to 20.0 cm×10.0 cm. The wound in the donor site was repaired by direct suture or full-thickness skin grafting from the medial upper arm of the affected limb or split-thickness skin grafting from the outer thigh. The postoperative survival of the tissue flap, postoperative complications, and appearance and function of the flap donor site were observed. For the patients who were followed up, their finger functions were evaluated at the last follow-up using the trial criteria for replantation function evaluation of the amputated finger issued by the Hand Surgery Society of the Chinese Medical Association, and the satisfaction of the patients was investigated using the Efficacy Satisfaction Scale. Data were statistically analyzed with Kruskal-Wallis H test and Nemenyi test. Results:Of the 112 tissue flaps, 104 tissue flaps survived completely and had good blood circulation; 1 pedicled thumb dorsal ulnar reverse island flap, 1 pedicled finger artery cutaneous branch reverse island flap, and 1 free grafted anterolateral thigh perforator flap were slightly necrotic at the end, which were repaired with outer thigh split-thickness skin graft after dressing change and granulation tissue growth; 2 free grafted tarsal external artery flaps and 1 pedicled thumb dorsal ulnar reverse island flap suffered from postoperative venous return obstruction, which survived after partial suture removal and heparin saline cleansing of the wound; 1 pedicled modified dorsal metacarpal artery retrograde island flap and 1 free grafted peroneal artery perforator flap were necrotic, which were repaired by a pedicled abdominal flap and a lateral upper arm flap free transplantation respectively in stage Ⅱ. After transplantation, the tissue flaps had good shape, soft texture, and good elasticity, without bloating. There was no functional disorder in the flap donor site, and only slight scar remained. A total of 117 fingers of the 72 patients received 3-24 months of outpatient or telephone follow-up. At the last follow-up, the excellent and good rates of function evaluation of fingers repaired with pedicled abdominal flap, pedicled internal hand flap, and free tissue flap were respectively 77.3% (51/66), 96.3% (26/27), and 95.8% (23/24). The function of fingers repaired with free tissue flap and pedicled internal hand flap was significantly better than that with pedicled abdominal flap ( P<0.01). The satisfaction of patients with fingers repaired by free tissue flaps was significantly higher than that by pedicled abdominal flap ( P<0.05). Conclusions:According to the specific situation of full-thickness burn wounds deep to tendon or even bone in fingers, the pedicled abdominal flap is used to repair the multiple full-thickness burn wounds deep to tendon or even bone in multiple fingers of adult or the full-thickness burn wounds deep to tendon or even bone in fingers of children, the pedicled internal hand flap or free tissue flap is used to repair the full-thickness burn wounds deep to tendon or even bone in single or two fingers of adult patients, and the first toenail flap or the dorsal foot flap with the second toe is used to reconstruct the thumbs with full-thickness burn deep to tendon or even bone, with high postoperative tissue flap survival rate and few complications. The functional recovery of the affected finger is better after repair with free tissue flap and pedicled internal hand flap, and the patients' satisfaction is the highest after free tissue flap repair.
9.GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ
Yonglan HUANG ; Huiying SHENG ; Xuefang JIA ; Xueyun SU ; Xiaoyuan ZHAO ; Ting XIE ; Chengfang TANG ; Sichi LIU ; Xiuzhen LI ; Wen ZHANG ; Huifen MEI ; Chunhua ZENG ; Li LIU
Chinese Journal of Pediatrics 2021;59(3):189-194
Objectives:To explore the GAA varient spectrum and the genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ (Pompe disease, PD), as well as to estimate the disease incidence based on carrier rate of GAA varients in Guangzhou population.Methods:A total of 57 PD cases were retrospectively enrolled at Guangzhou Women and Children′s Medical Center from January 1, 2010 to May 31, 2020. All patients presented symptoms before the age of 18 years. Each diagnosis was further confirmed by GAA enzyme activity and GAA variants. The carrier rate of GAA varients was calculated based on variants detected by whole exon sequencing among 2 395 healthy children in Guangzhou.Results:Among the 57 PD patients (including male 26, female 31),twenty-eight patients with infantile onset PD (IOPD) presented with progressive general muscle weakness and cardiomyopathy. The mean ages of symptom onset and diagnosis were (2.5±1.4) and (5.0±3.0) months, respectively. Twenty-six cases died in the first year after birth.Twenty-three patients with late onset PD (LOPD) presented with progressive muscle weakness. Seven of them had respiratory failure at diagnosis. The mean ages of symptom onset and diagnosis were (12.0±5.0) and (17.0±7.5) years, respectively. Six children with atypical IOPD showed motor delay, muscle weakness and cardiomyopathy. Their diagnosis was confirmed at 2.5-7.0 years of age. Among the 57 patients, 47 different variants were identified in the GAA gene. Three variants: c.797C>T, c.1109G>A and c.1757C>T were novel. c.1935C>A (25/114, 21.9%) and c.2238G>C (15/114, 13.2%) were the most common variants, detected in 57.1% of IOPD and 65.2% (15/23) of LOPD patients, respectively. Among the 28 IOPD patients, 26 cases (92.9%) carried at least one missense variant which indicated positive cross-reactive immunologic material (CRIM). The carrier rate of pathogenic variants in GAA gene among healthy children was 24/2 395. The estimated incidence of PD in this population is about 1/40 000. The frequencies of pseudodeficiency variants c.1726G>A and c.2065G>A homozygotes were 26.3% (15/57) and 35.1% (20/57) in PD patients, which were significantly higher than those (1.7% (40/2 395) and 3.9% (94/2 395)) in healthy children (χ2=151.2, 121.9; both P<0.01). Conclusions:PD presents as a spectrum, some as atypical IOPD. The c.1935C>A and c.2238G>C are common variants, correlated with IOPD and LOPD respectively. The c.796C>T and c.1082C>T are usually found in atypical IOPD. The majority of IOPD patients is predicted to be CRIM positive. The estimated incidence of PD is about 1/40 000.
10. Application of pulmonary ultrasound in the diagnosis of COVID-19 pneumonia in neonates
Xiaoyuan FENG ; Xuwei TAO ; Lingkong ZENG ; Weiqi WANG ; Gen LI
Chinese Journal of Pediatrics 2020;58(5):E013-E013
Objective To investigate the application of pulmonary ultrasound in the diagnosis of neonatal novel coronavirus pneumonia (COVID-19). Methods In this retrospective study, the clinical data of 5 infants, who were admitted to the Department of Neonatology in Wuhan Children's hospital from 31 th January to 25 th February 2020, were collected. Bedside pulmondary ultrasound was conducted on admission, during the hospitalization, and before discharge, and the result were compared with the chest X-ray or CT done at the same time. Results Among the 5 cases who aged 1-18 days, 3 were male. The main clinical manifestations were respiratory and gastrointestinal symptoms. The pulmonary ultrasonography on admission showed abnormal pleural line and pulmonary edema of different severity in all 5 cases, presented as increase and fusion of B-line, and pulmonary interstitial syndrome; among them, one case also had a small-range consolidation. The chest CT on admission showed no obvious parenchymal infiltration in 2 cases, small strip or patchy high-density shadow in 2 cases, and ground glass change in one case. The re-examination of ultrosound during the hospitalization and at discharge showed improvement in all cases and were consistent with the chest X-ray taken at the sametime. Conclusions The main changes on the pulmonary ultrasonography in neonates with COVID-19 pneumonia are increase and fusion of B-line, abnormal pleural line, and nalveolar interstitial syndrome, and may combined with small range of pulmonary consolidation. The sensitivity of pulmonary ultrasound is higher than chest X-ray and CT in the diagnosis of pulmonary edema, and could be used in monitoring and evaluation of the disease.

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