1.Clinical, imaging, and genetic features of aceruloplasminemia caused by a novel c.1944C>G mutation in the ceruloplasmin gene: A case report and literature review
Journal of Apoplexy and Nervous Diseases 2026;43(3):248-253
Objective To investigate the clinical features and key diagnostic points of aceruloplasminemia (ACP), as well as the features of a novel pathogenic mutation. Methods A systematic analysis was performed for the clinical data of one patient with a confirmed diagnosis of ACP, and a literature review was performed based on related articles in China and globally. Results Based on the clinical features of this patient and the analysis of the family, it was clarified that the homozygous c.1944C>G (p.Ser648Arg) mutation in the Ceruloplasmin (CP) gene could cause ACP and was reported for the first time worldwide. Conclusion ACP is an extremely rare autosomal recessive disease due to abnormal iron metabolism caused by a significant reduction in ceruloplasmin, with the main clinical manifestations of retinopathy, diabetes, ataxia, and cognitive impairment, and genetic testing of the CPgene has a relatively high diagnostic value.
Ceruloplasmin
2.Choreo: A case report of Sydenham’s Chorea.
Pauline M. TAMBALO ; Raymond ESPINOSA ; Brenda ESPINOSA
Philippine Journal of Internal Medicine 2026;64(1):105-109
<p style="text-align: justify;" data-mce-style="text-align: justify;">A 19-year-old female with a 2-day history of involuntary fast jerk-like movements of the left upper and lower extremities presented at the emergency department. Patient had no other known comorbidities and family history was unremarkable. Anti-streptolysin O titer (ASO) and C-reactive protein (CRP) were all normal. Two-dimensional echocardiography (2D Echo) revealed thickened anterior mitral valve leaflet with prolapsed A2 scallop, mild mitral regurgitation, thickened right coronary cusp of aortic valve without restriction of motion, trivial aortic regurgitation, other findings were unremarkable. Patient was managed as a case of Sydenham’s chorea secondary to acute rheumatic fever, with valvular heart disease secondary. Patient was initially started on valproic acid 500mg tablet every 8 hours, benzathine penicillin 1.2M units intramuscular, and carvedilol 12.5mg/tablet twice a day. The patient was then shifted to haloperidol 5mg ¼ tablet twice a day, diphenhydramine 50mg intravenously coinciding with haloperidol doses due to visual side effects of valproic acid. This report highlights the importance of a high index of suspicion and complete history and physical examination in order to diagnose and manage movement disorders in a low-income setting.
p>
Human
;
Female
;
Young Adult: 19-24 Yrs Old
;
Movement Disorders
;
Diphenhydramine
;
Aortic Valve Insufficiency
;
Heart Valve Diseases
;
C-reactive Protein
3.Role of antibiotic eluting absorbable calcium sulfate in phaseⅠrevision treatment of periprosthetic knee infection.
Xiao-Bo CHEN ; Shuai-Lei LI ; Ai-Bin LIU ; Hao CHAI ; Yong-Qiang SUN
China Journal of Orthopaedics and Traumatology 2025;38(6):580-586
OBJECTIVE:
To explore the role of antibiotic-eluting absorbable calcium sulfate in treating periprosthetic infection after one-stage revision of knee arthroplasty.
METHODS:
A retrospective analysis was performed on 36 patients(36 knees)who underwent phaseⅠrevision for periprosthesis infection after total knee arthroplasty from January 2018 to March 2022. All patients were underwent knee cavity puncture before operation and had positive results of aseptic body fluid culture, 21 patients received revision combined with antibiotic loaded calcium sulfate at stageⅠ(calcium sulfate group) during operation, and 15 patients underwent renovation at stageⅠ(revision group). There were 9 males and 12 females in calcium sulfate group, aged from 54 to 76 years old with an average of(67.6±6.2) years old. There were 15 patients in revision group, including 4 males and 11 females, aged from 60 to 75 years old with average of (69.6±4.1) years old. The levels of serum C-reactive protein (CRP), interleukin-6 (IL-6) at 7, 14, 30 and 90 days after operation were compared between two groups, and the rate of end-infection control at follow-up were compared. The systemic antibiotic application time, hospital stay and postoperative complications were observed between two groups.
RESULTS:
Calcium sulfate group were followed up for 12 to 29 months with an average of(18.9±4.2) months, and the infection control rate was 90.5%;while revision group were followed up 18 to 29 months with average of (21.6±3.7) months, and the infection control rate was 86.7% (13/15). There were no significant differences in follow-up time and infection control rate between two groups(P>0.05). Postoperative levels of CRP and IL-6 at 7, 14 and 30 days in calcium sulfate group were (32.79±11.48), (15.50±6.52), (9.36±3.32) mg·L-1 and (17.31±6.15) pg·ml-1, respectively;which were lower than those in revision group (40.65±11.32), (30.15±10.57), (18.97±5.86) mg·L-1 and (25.54±6.73) pg·ml-1, had statistical differences(P<0.05). There were no significant differences in IL-6 levels at 7 and 14 days after operation and CRP levels at 90 days after operation between two groups (P>0.05). The hospitalization time and systemic antibiotic application time in calcium sulfate group were (18.4±2.2) and (63.5±21.4) d, respectively;which were better than those in revision group (20.5±2.4) and (82.7±16.9) d, and had statistical differences(P<0.05). No significant wound complications and hypercalcemia were observed in calcium sulfate group.
CONCLUSION
Antibiotic eluted absorbable calcium sulfate could be used to treat periprosthetic knee infection, significantly reducing CRP levels in the early postoperative period, shortening hospital stay and systemic antibiotic application time, but it does not significantly improve the control rate of revision infection at stageⅠ.
Humans
;
Male
;
Female
;
Aged
;
Prosthesis-Related Infections/surgery*
;
Middle Aged
;
Calcium Sulfate/administration & dosage*
;
Arthroplasty, Replacement, Knee/adverse effects*
;
Retrospective Studies
;
Anti-Bacterial Agents/therapeutic use*
;
Interleukin-6/blood*
;
C-Reactive Protein/metabolism*
;
Reoperation
;
Knee Prosthesis/adverse effects*
4.Correlation analysis of clinical features between wet and dry gangrene in diabetic foot.
Yu-Zhen WANG ; Cheng-Lin JIA ; Yong-Kang ZHANG ; Jun-Lin DENG ; Zong-Hao DAI ; Cheng ZHAO ; Ye-Min CAO
China Journal of Orthopaedics and Traumatology 2025;38(9):884-890
OBJECTIVE:
To explore clinical characteristics, lesion sites and correlation differences of different types of diabetic foot gangrene, and to provide evidence-based basis for clinical classification of diabetic foot gangrene.
METHODS:
A retrospective analysis was conducted on 266 patients with newly diagnosed diabetic foot gangrene who were admitted from January 2018 to December 2018, including 183 males and 83 females, aged from 35 to 92 years old with an average of (69.55±10.84) years old, and they were divided into wet gangrene group and dry gangrene group according to the different natures of gangrene. There were 139 patients in wet gangrene group, including 98 males and 41 females, aged from 35 to 90 years old with an average of (68.95±10.93) years old. There were 127 patients in dry gangrene group, including 85 males and 42 females, aged from 38 to 92 years old with an average of (70.21±10.75) years old. Body mass index (BMI), waist-to-hip ratio (WHR), body temperature, skin temperature difference between the affected and healthy sides of the lower extremities, and Wagner grade between two groups were recorded to evaluate symptoms and signs. The white blood cell count (WBC), neutrophil percentage (NEUT%), and C-reactive protein (C-reactive protein), erythrocyte sedimentation rate (ESR), procalcitonin (PCT), and interleukin-6 (IL-6) in peripheral blood between two groups were detected and compared to evaluate the infection status;the severity of diabetic peripheral neuropathy (DPN) was evaluated by using Toronto Clinical Scoring System (TCSS);the degree of pain in patients with diabetic foot gangrene was evaluated by numerical rating scale (NRS); ankle-brachial index (ABI) and popliteal artery blood flow velocity were used to evaluate the degree of arterial lesions. Spearman correlation analysis was used to analyze the correlations between gangrene TCSS, ABI and age, BMI, WHR, body temperature, calf skin temperature difference, WBC, NEUT%, CRP, ESR, PCT, IL-6, NRS, and Wagner classification indicators.
RESULTS:
The body temperature, skin temperature difference between the affected and healthy sides of the lower extremities, Wagner grade, WBC, NEUT%, CRP, ESR, PCT, IL-6, TCSS score, ABI, and popliteal artery blood flow velocity in wet gangrene group were higher than those in dry gangrene group (P<0.01), and BMI, WHR, and NRS score in dry gangrene group were higher than those in wet gangrene group;the differences were all statistically significant (P<0.01). The results of Spearman correlation analysis showed TCSS score of gangrene patients was correlated with body temperature (r=0.214), calf skin temperature difference (r=0.364), WBC (r=0.240), NEUT% (r=0.291), CRP (r=0.347), ESR (r=0.167), PCT (r=0.241), IL-6 (r=0.316), and popliteal fossa arterial blood flow velocity (r=0.261) and Wagner grade (r=0.273) were positively correlated, and the differences were statistically significant (P<0.01). ABI was negatively correlated with age (r=-0.183), BMI (r=-0.252), WHR (r=-0.288), and NRS score (r=-0.354), and the differences were statistically significant (P<0.01).
CONCLUSION
Diabetic foot gangrene is an extremely difficult and critical disease. Wet gangrene has a significant synergic effect with infection and neuropathy, while dry gangrene is closely related to vascular occlusion. The main contradiction of gangrene could be revealed through blood vessels, nerves and infection, providing evidence-based basis for the selection of debridement timing, anti-infection strategies and revascularization, with the aim of reducing the risk of amputation.
Humans
;
Male
;
Female
;
Aged
;
Middle Aged
;
Diabetic Foot/diagnosis*
;
Aged, 80 and over
;
Adult
;
Retrospective Studies
;
Gangrene/physiopathology*
;
C-Reactive Protein
5.Coagulation profile PT, FBG, FDP, D-D as disease predictors of RA and pSS inflammatory immunity.
Wenwen MIN ; Lei WAN ; Feng LI ; Yu ZHANG ; Ying WANG ; Siyu LIANG
Chinese Journal of Cellular and Molecular Immunology 2025;41(10):895-904
Objective To explore the expression of coagulation indexes in rheumatoid arthritis (RA) and dry syndrome (pSS) and their relationships with inflammation and immune function. Methods A total of 61 patients with RA who were hospitalized in the Department of Rheumatology of Anhui Provincial Hospital of Traditional Chinese Medicine from March 12 to September 9, 2024 were selected as the RA group. And 61 patients with pSS who were hospitalized in the Department of Rheumatology of the same hospital September 4, 2023, to August 17, 2024, were selected as the pSS group. 61 healthy individuals who underwent routine medical checkups at the Physical Examination Center of Anhui Provincial Hospital of Traditional Chinese Medicine during the same period were included as the control group. Baseline clinical indexes before treatment were collected from patients in each group, including prothrombin time(PT), international normalized ratio(INR), thrombia time(TT), fibrinogen(FBG), activated partial thromboplastin time(APTT), fibrin (ogen) degradation products(FDP) and D-Dimer(D-D). Results The expression levels of PT, FBG, TT, FDP, and D-D in the RA group, the pSS group, and the normal group were significantly different. The expression levels of PT, FBG, FDP, and D-D in the RA group were all higher than those in the pSS group and the control group, respectively. And the expression level of TT in the pSS group was lower than that in control group. ROC curve analysis showed that the AUC of PT was 0.638, the AUC of FBG was 0.899, the AUC of FDP was 0.866, and the AUC of D-D was 0.919 in the RA group compared with the normal group. And the AUC of coagulation indexes for joint diagnosis of RA was higher than that of the indexes detected individually. pSS group had an AUC of PT of 0.618 compared with that of the normal group. The AUC of TT was 0.645, and the AUC of coagulation indexes for the joint diagnosis of pSS was higher than the AUC of each index detected separately. Association rule analysis showed that elevated D-D in RA patients had a significant correlation with elevated hs-CRP, CCP and RF, and elevated FBG had a significant correlation with elevated hs-CRP, ESR, RF and CCP. Elevated D-D in pSS patients had a correlation with elevated hs-CRP and anti-SSA, and elevated INR has correlation with elevated hs-CRP, anti-SSA and anti-SSB. Correlation analysis showed that PT, INR, FBG, FDP, and D-D were positively correlated with CRP and ESR, and TT was negatively correlated with CRP and ESR in the RA group. FBG, FDP, and D-D were positively correlated with CRP and ESR in the pSS group. Moreover, coagulation indexes were positively correlated with immune indexes in RA group and pSS group which were all significant. The results of multiple linear regression analysis showed that FBG was a positive correlate of hs-CRP and ESR in RA patients. For PSS patients, FBG and FDP were positive correlates of hs-CRP. APTT and FBG were positive correlates of ESR. Conclusion Compared with pSS, coagulation indexes (especially PT, FBG, FDP and D-D) are more informative for the early diagnosis of RA and the judgment of the degree of the disease, and can be used as an important predictor for the confirmation of the diagnosis of RA.
Humans
;
Female
;
Male
;
Arthritis, Rheumatoid/diagnosis*
;
Middle Aged
;
Fibrin Fibrinogen Degradation Products/analysis*
;
Blood Coagulation
;
Adult
;
Fibrinogen/metabolism*
;
Partial Thromboplastin Time
;
Prothrombin Time
;
Aged
;
Inflammation/immunology*
;
ROC Curve
6.Research on the anti-inflammatory effects of a novel sleep-aid decoction on elderly insomnia patients across traditional Chinese medicine constitutional types.
Zhen WU ; Zhuoqiong BIAN ; Ailin CHEN ; Qiuping ZHANG ; Jie LI ; Hui ZHOU ; Hongying ZHU
Chinese Journal of Cellular and Molecular Immunology 2025;41(11):1007-1012
Objective To evaluate the clinical efficacy of a novel sleep-aid decoction in treating elderly insomnia patients with different traditional Chinese medicine (TCM) constitutional types, and its effects on neurotransmitter and inflammatory factor levels. Methods A total of 200 patients with four different TCM constitutions-peaceful, Qi-deficient, Yin-deficient, and Yang-deficient-were recruited. Peripheral blood neurotransmitter and inflammatory factor levels were measured for variations among insomnia patients across different constitutions. These patients were treated using the novel sleep-aid decoction, the effects of which were evaluated based on changes in neurotransmitters and inflammatory factors. Results Compared to the peaceful constitution group, insomnia patients with Qi-deficient, Yin-deficient, and Yang-deficient constitutions exhibited significantly elevated baseline levels of neurotransmitters (5-HT, GABA) and inflammatory factors (IL-6, TNF-α, IL-1β, CRP). Following the treatment, the Qi-deficient and Yin-deficient groups showed a marked increase in 5-HT levels, restored balance of Glu, GABA, and melatonin, and significant reductions in IL-6 and TNF-α levels. The overall effective rate was 83.5%, with optimal efficacy observed in the Qi-deficient (97.72%) and Yin-deficient (95.34%) groups. Conclusion The novel sleep-aid decoction is effective in treating insomnia in elderly patients, with the best results observed in the Qi-deficient and Yin-deficient constitution groups.
Humans
;
Sleep Initiation and Maintenance Disorders/blood*
;
Aged
;
Male
;
Female
;
Drugs, Chinese Herbal/therapeutic use*
;
Medicine, Chinese Traditional
;
Middle Aged
;
Tumor Necrosis Factor-alpha/blood*
;
Sleep Aids, Pharmaceutical/therapeutic use*
;
Anti-Inflammatory Agents/therapeutic use*
;
Interleukin-6/blood*
;
Interleukin-1beta/blood*
;
Neurotransmitter Agents/blood*
;
Aged, 80 and over
;
C-Reactive Protein/metabolism*
7.Empirical and modified hemostatic resuscitation for liver blast injury combined with seawater immersion: A preliminary study.
Haoyang YANG ; Chenglin DAI ; Dongzhaoyang ZHANG ; Can CHEN ; Zhao YE ; Xin ZHONG ; Yijun JIA ; Renqing JIANG ; Wenqiong DU ; Zhaowen ZONG
Chinese Journal of Traumatology 2025;28(3):220-225
PURPOSE:
To compare the effects of empirical and modified hemostatic resuscitation for liver blast injury combined with seawater immersion.
METHODS:
Thirty rabbits were subjected to liver blast injury combined with seawater immersion, and were then divided into 3 groups randomly (n = 10 each): group A (no treatment after immersion), group B (empirical resuscitation with 20 mL hydroxyethyl starch, 50 mg tranexamic acid, 25 IU prothrombin complex concentrate and 50 mg/kg body weight fibrinogen concentrate), and group C (modified resuscitation with additional 10 IU prothrombin complex concentrate and 20 mg/kg body weight fibrinogen concentrate based on group B). Blood samples were gathered at specified moments for assessment of thromboelastography, routine coagulation test, and biochemistry. Mean arterial pressure, heart rate, and survival rate were also documented at each time point. The Kolmogorov-Smirnov test was used to examine the normality of data distribution. Multigroup comparisons were conducted with one-way ANOVA.
RESULTS:
Liver blast injury combined with seawater immersion resulted in severe coagulo-fibrinolytic derangement as indicated by prolonged prothrombin time (s) (11.53 ± 0.98 vs. 7.61 ± 0.28, p<0.001), activated partial thromboplastin time (APTT) (s) (33.48 ± 6.66 vs. 18.23 ± 0.89, p<0.001), reaction time (R) (min) (5.85 ± 0.96 vs. 2.47 ± 0.53, p<0.001), decreased maximum amplitude (MA) (mm) (53.20 ± 5.99 vs. 74.92 ± 5.76, p<0.001) and fibrinogen concentration (g/L) (1.19 ± 0.29 vs. 1.89 ± 0.32, p = 0.003), and increased D-dimer concentration (mg/L) (0.38 ± 0.32 vs. 0.05 ± 0.03, p = 0.005). Both empirical and modified hemostatic resuscitation could improve the coagulo-fibrinolytic states and organ function, as indicated by shortened APTT and R values, decreased D-dimer concentration, increased fibrinogen concentration and MA values, lower concentration of blood urea nitrogen and creatine kinase-MB in group B and group C rabbits in comparison to that observed in group A. Further analysis found that the R values (min) (4.67 ± 0.84 vs. 3.66 ± 0.98, p = 0.038), APTT (s) (23.16 ± 2.75 vs. 18.94 ± 1.05, p = 0.001), MA (mm) (60.10 ± 4.74 vs. 70.21 ± 3.01, p < 0.001), and fibrinogen concentration (g/L) (1.68 ± 0.21 vs. 1.94 ± 0.16, p = 0.013) were remarkably improved in group C than in group B at 2 h and 4 h after injury. In addition, the concentration of blood urea nitrogen (mmol/L) (24.11 ± 1.96 vs. 21.00 ± 3.78, p = 0.047) and creatine kinase-MB (U/L) (85.50 ± 13.60 vs. 69.74 ± 8.56, p = 0.013) were lower in group C than in group B at 6 h after injury. The survival rates in group B and group C were significantly higher than those in group A at 4 h and 6 h after injury (p < 0.001), however, there were no statistical differences in survival rates between group B and group C at each time point.
CONCLUSIONS
Modified hemostatic resuscitation could improve the coagulation parameters and organ function better than empirical hemostatic resuscitation.
Animals
;
Rabbits
;
Resuscitation/methods*
;
Liver/injuries*
;
Seawater
;
Blast Injuries/therapy*
;
Fibrinogen/administration & dosage*
;
Male
;
Tranexamic Acid/administration & dosage*
;
Immersion
;
Hydroxyethyl Starch Derivatives/administration & dosage*
8.Postoperative laboratory markers as predictors of early spinal surgical site infections: A retrospective cohort study.
Tianhong CHEN ; Renxin CHEN ; Hongliang ZHANG ; Qinyu FENG ; Lin CAI ; Jingfeng LI
Chinese Journal of Traumatology 2025;28(6):412-417
PURPOSE:
To screen laboratory markers with predictive value in early spinal surgical site infections (SSI) that are diagnosed within 30 days postoperatively.
METHODS:
Patients who underwent surgical treatment for internal spinal fixation between March 2022 and March 2023 in our hospital were retrospectively studied. The inclusion criteria were aged >18 years, undergoing internal fixation surgery, complete medical records with >30 days of postoperative follow-up, diagnosis was made within 30 days postoperatively, and an informed consent form was obtained. The exclusion criteria were abnormal white blood cell count or neutrophil percentage in the preoperative blood routine and combined diseases that may affect the C-reactive protein (CRP) or procalcitonin (PCT) values, including lower respiratory tract infection, renal insufficiency, and liver disease. We collected patients' personal information, surgical information, and blood laboratory data, including CRP, PCT, lymphocyte-neutrophil ratio, platelet-neutrophil ratio, and routine blood tests on preoperative and postoperative days 3, 5, and 7, from these patients. These data were statistically analyzed to determine which laboratory markers were statistically significant. The diagnostic value and optimal diagnostic threshold of these laboratory markers were further determined by receiver operating characteristic curve analysis.
RESULTS:
A total of 106 patients were enrolled in this study, of whom 8 patients were diagnosed with early SSI. A total of 4 laboratory markers were screened, namely, CRP on postoperative day 7 (optimal diagnostic threshold of ≥64.1 mg/L, sensitivity of 100%, specificity of 76.5%, area under the curve (AUC) of 0.908), PCT on postoperative day 7 (optimal diagnostic threshold of ≥0.2 ng/mL, sensitivity of 87.5%, specificity of 94.1%, AUC of 0.967), lymphocyte count on postoperative day 5 (optimal diagnostic threshold of ≤0.67 × 109/L, sensitivity of 50%, specificity of 95.9%, AUC of 0.760), and lymphocyte count on postoperative day 7 (optimal diagnostic threshold of ≤1.32 × 109/L, sensitivity of 87.5%, specificity of 55.1%, AUC of 0.721).
CONCLUSION
We concluded that CRP and PCT levels on postoperative day 7 and lymphocyte counts on postoperative days 5 and 7 are useful markers in screening for early spinal SSI.
Humans
;
Retrospective Studies
;
Male
;
Female
;
Biomarkers/blood*
;
Middle Aged
;
C-Reactive Protein/analysis*
;
Surgical Wound Infection/blood*
;
Procalcitonin/blood*
;
Adult
;
Aged
;
Postoperative Period
;
ROC Curve
;
Predictive Value of Tests
;
Spine/surgery*
9.Clinical characteristics and genotypes of patients with Congenital fibrinogen disorders.
Haijian WANG ; Shuang ZHENG ; Xiaomin YU ; Kaiwen WU ; Misheng ZHAO
Chinese Journal of Medical Genetics 2025;42(3):264-273
OBJECTIVE:
To explore the clinical features and genetic mutation sites of 28 patients with Congenital fibrinogen disorders (CFDs).
METHODS:
A total of 28 unrelated CFDs patients admitted to Wenzhou People's Hospital from June 2018 to April 2023 were enrolled into this research. A total of 2.7 mL of peripheral blood was collected from each patient for coagulation function tests, which included thrombin time (TT), fibrinogen activity (Fg:C), fibrinogen antigen (Fg:Ag), and gene detection. The Sanger sequencing method was employed to verify variations in the fibrinogen (Fg) protein-coding gene across 28 patients. Bioinformatics analyses, including harmfulness analysis, conservation analysis across different species, and spatial simulation predictions of variant proteins, were conducted byPolyPhen-2, PROVEAN, SnapGene, and Pymol softwares on the variant sites of these patients. Pathogenicity ratings for the detected variant sites were performed in accordance with the Standards and Guidelines for the Interpretation of Sequence variants by the American College of Medical Genetics and Genomics (ACMG) (hereafter referred to as the ACMG Guidelines). This study received approval from the Ethics Committee of Wenzhou People's Hospital (Approval No. KY-2023-269), and informed consent was obtained from all participants before enrollment.
RESULTS:
The clinical and genetic characteristics of 28 patients with CFDs in this study were as follows.
CLINICAL DATA:
Among the 28 patients, 2 cases were diagnosed with type I CFDs, while 26 cases were diagnosed with type II CFDs. And 50.0% (14/28) of the patients exhibited no clinical manifestations, while 28.6% (8/28) presented with bleeding manifestations, and 7.1% (2/28) exhibited thrombus manifestations, 3.6% (1/28) experienced both bleeding and thrombosis. Among female patients, 13.0% (3/23) exhibited a history of habitual abortion. All patients demonstrated TT and a significant decrease in Fg:C. Sanger sequencing revealed a total of 10 types of heterozygous variations in the FGA, FGB, and FGG genes across 28 patients, distributed among 9 loci. The variation at the γ c.902G>A/c.901C>T accounted for the highest proportion (35.7%, 10/28), followed by the Bβ c.569 A>G (28.6%, 8/28). Biological informatics analysis: the Aα c.180+1G>T mutation was predicted to be highly deleterious. And the Aα c.104G>A, Bβ c.425T>G, Bβ c.586C>T, and γ c.902G>A/c.901C>T variations were also predicted to be harmful. Conservation analysis indicates that the 9 variant sites were highly conserved among homo sapiens, musculus, ovis aries, scrofa, and rattus. Spatial conformation analysis revealed that some variations lead to an increase or decrease in the number of hydrogen bonds. ACMG guideline rating analysis: Among the ten variations in the Fg protein-coding genes FGA, FGB, and FGG identified in 28 patients, 9 variations (Aα c.104G>A, Aα c.180+1G>T, Bβ c.425T>G, Bβ c.569A>G, Bβ c.586C>T, Bβ c.643G>A, γ c.901C>T, γ c.902G>A, γ c.1001A>C) were classified as pathogenic, while one variation (γ c.908C>G) was classified as likely pathogenic.
CONCLUSION
In this study, the majority of CFDs patients are diagnosed with type II CFDs, with 50% presenting clinical symptoms predominantly manifesting as bleeding, thrombosis, and recurrent miscarriage. The mutation hotspots are mainly located in exon 2 of FGA, exon 4 of FGB, and exon 8 of FGG.
Humans
;
Female
;
Male
;
Afibrinogenemia/congenital*
;
Fibrinogen/metabolism*
;
Mutation
;
Genotype
;
Adult
;
Child
;
Adolescent
;
Child, Preschool
;
Infant
10.Risk factors for plastic bronchitis in children with macrolide-unresponsive Mycoplasma pneumoniae pneumonia and establishment of a nomogram model.
Xiao-Song SHI ; Xiao-Hua HE ; Jie CHEN
Chinese Journal of Contemporary Pediatrics 2025;27(1):62-67
OBJECTIVES:
To investigate the risk factors for plastic bronchitis (PB) in children with macrolide-unresponsive Mycoplasma pneumoniae pneumonia (MUMPP) and to establish a nomogram prediction model.
METHODS:
A retrospective analysis was conducted on 178 children with MUMPP who underwent bronchoscopy from January to December 2023. According to the presence or absence of PB, the children were divided into a PB group (49 children) and a non-PB group (129 children). The predictive factors for the development of PB in children with MUMPP were analyzed, and a nomogram prediction model was established. The model was assessed in terms of discriminatory ability, accuracy, and clinical effectiveness.
RESULTS:
The multivariate logistic regression analysis showed that older age and higher levels of lactate dehydrogenase and fibrinogen were closely associated with the development of PB in children with MUMPP (P<0.05). A nomogram model established based on these factors had an area under the receiver operating characteristic curve of 0.733 (95%CI: 0.651-0.816, P<0.001) and showed a good discriminatory ability. The Hosmer-Lemeshow goodness-of-fit test indicated that the predictive model had a good degree of fit (P>0.05), and the decision curve analysis showed that the model had a good clinical application value.
CONCLUSIONS
The risk nomogram model established based on age and lactate dehydrogenase and fibrinogen levels has good discriminatory ability, accuracy, and predictive efficacy for predicting the development of PB in children with MUMPP.
Retrospective Studies
;
Risk Factors
;
Nomograms
;
Mycoplasma pneumoniae/isolation & purification*
;
Pneumonia, Mycoplasma/microbiology*
;
Bronchitis/microbiology*
;
Macrolides/therapeutic use*
;
Drug Resistance, Bacterial
;
Bronchoscopy
;
Area Under Curve
;
ROC Curve
;
Fibrinogen/analysis*
;
Age Factors
;
Humans
;
Male
;
Female
;
Infant
;
Child, Preschool
;
Child
;
Adolescent
;
L-Lactate Dehydrogenase/blood*


Result Analysis
Print
Save
E-mail