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ObjectiveTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease involving multiple organ system. Renal angiomyolipoma (RAML) is a leading cause of death for adult TSC patients. Our study aims at investigating the clinical manifestations of TSC-RAML to enable clinicians to have a better understanding of the disease in Chinese patients.MethodsWe reviewed retrospectively the data collected from patients with TSC-RAML in Peking Union Medical College Hospital from January 2014 to January 2023. We also collected information about the age, gender, imageological examination, RAML stage, and comorbidities.ResultsA total of 186 TSC-RAML patients were registered, 65 of whom were males and 121 were females(male-to-female ratio 1∶1.86). The median age of all patients was 31 years old. Totally, 117 cases (62.9%)of RAML were rated stage 6. Twenty-two cases (11.8%) had a history of tumor rupture and bleeding. Research shows statistical differences between high and low grade on RAML rupture bleeding(P=0.0475). Angiofibromas/fibrous cephalic plaque (155/186, 83.3%), subependymal nodules(103/146, 70.5%), lymphangioleiomyomatosis (102/157, 65.0%), hypomelanotic macules (114/186, 61.3%), and shagreen patch (83/186, 44.6%)were the most common clinical manifestations. All patients with lymphangioleiomyomatosis(LAM) were female(P < 0.0001).ConclusionsFemale patients predominated TSC-RAML patients. Most RAML were in stage 6. About 11.8% cases had a history of tumor rupture and hemorrhage. The higher grade meant the higher proportion of tumor rupture and hemorrhage. Dermatological and nervous lesions were the most common comorbidities. All patients with LAM in this study were female.
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As a commonly used traditional Chinese medicine in clinical practice， Tripterygium wilfordii has the functions of dispelling wind and removing dampness， detoxicating and destroying parasites， detumescence， pain relief， promoting blood circulation， and dredging collateral. Modern pharmacological studies show that it also has other functions such as anticancer， anti-inflammation， and immunosuppression. It has been widely used to treat autoimmune diseases， renal diseases， and tumors. T. wilfordii contains a variety of chemical components， among which triptolide （TP） can cause varying degrees of damage to human digestive， circulatory， reproductive， and other systems， with liver injury being the most common one， which greatly limits the development of TP in new drug research and industrial application. Therefore， the authors focused on the research hotspot of TP-induced liver injury and summarized relevant Chinese and international literature regarding the clinical manifestations， injury mechanisms， and detoxification strategies of TP-induced liver injury. This helps to provide a scientific basis for the clinical drug safety and scientific drug supervision of TP. The clinical manifestations of TP-induced liver injury are mostly abnormal transaminases， loss of appetite， nausea and vomiting， anorexia， yellow staining of skin and sclera， and yellow urine. The mechanisms of the above clinical manifestations involve apoptosis， oxidative stress， influence on cytochrome P450 superfamily， macrophage polarization， regulation of biological clock gene Clock， etc. Among them， cell apoptosis is related to neurogenic locus notch homolog protein 1 （Notch1）， dynamin-related protein 1 （Drp1）-cytochrome C （Cyt C）， phosphatidylinositide 3-kinases （PI3K）/protein kinase B （Akt）， mitogen-activated protein kinase （MAPK）， tumor suppressor protein 53 （p53）， Fas cell surface death receptor （Fas）/Caspase-8， and other signaling pathways. Oxidative stress is related to inhibition of nuclear factor-erythroid 2-related factor 2 （NRF2） signaling pathway， promotion of cytochrome P450 2E1 （CYP2E1） expression， and excessive accumulation of reactive oxygen （ROS）. The influence of the cytochrome P450 superfamily is manifested as reducing the substrate affinity， activity， and expression of cytochrome P450 3A （CYP3A）， cytochrome P450 2C9 （CYP2C9）， cytochrome P450 2C19 （CYP2C19）， and cytochrome P450 1A2 （CYP1A2）. Promoting the transformation of macrophages into the M1 type is related to the secretion of inflammatory factors and the accumulation of endotoxin， and the internal rhythmic regulation of the biological clock gene Clock， is related to the expression of cytochrome P450 3A11 （CYP3A11） metabolic enzyme. The detoxification strategies in the clinical application include herbs-processing detoxification strategy and drug-pairing detoxification. The traditional Chinese medicines and monomers that are helpful for detoxification include Glycyrrhiza uralensis， Paeonia lactiflora， Lysimachia christinae， Rehmannia glutinosa， saffron， and paeoniflorin. The reviews and discussion about these topics can help to provide more references for related research and clinical application of TP.
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Objective To analyze the clinical characteristics and influencing factors of non-small cell lung cancer (NSCLC) patients with chronic obstructive pulmonary disease (COPD) in Hubei province, and to provide a theoretical basis for the diagnosis and treatment of NSCLC patients with COPD. Methods A total of 246 NSCLC patients admitted to our hospital from 2018 to 2020 were selected and divided into control group (without COPD, n=125) and observation group (with COPD, n=121) according to COPD. The clinical characteristics of chest pain, hemoptysis, emasculation, atelectasis and pleural effusion were compared between the two groups. The values of FEV1/FVC, RV/TLC and DLCO in the two groups were measured by pulmonary function detector. The age, gender, smoking, smoking history, proportion of lung squamous cell carcinoma, TNM stage and other clinical data of all subjects were analyzed by self-made survey scale of our hospital. Univariate analysis and logistic regression were used to analyze the risk factors of COPD in NSCLC patients. Results Among 246 NSCLC patients, 121 patients (49.19%) were complicated with COPD, including 76 males and 45 females, and there was a statistical difference between the two groups (χ2=4.891, P>0.05). The average age of the observation group (61.02±4.82) was significantly higher than that of the control group (59.76±4.73) (t=2.069, P0.05). Male (OR=2.982), smoking history (OR=2.623) and lung squamous cell carcinoma (OR=3.147) were risk factors for COPD in NSCLC patients (P<0.05). Conclusions NSCLC patients with COPD are more common in male smokers in Hubei Province, often accompanied by pleural effusion , severe hemoptysis and other symptoms , and their lung function is decreased. Early detection and standardized treatment of COPD in the treatment of NSCLC can improve the prognosis of patients.
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Background: Information on bullous pemphigoid in an Indian context is scarce. Aim: To report clinico-demographic profile, associated comorbidities and prescription pattern of bullous pemphigoid patients in India. Methods: This was a retrospective study, where past records of all bullous pemphigoid patients diagnosed and treated between November 2013 and October 2019 were accessed and analysed. Patients having a compatible clinical presentation with either histopathological and/or direct immunofluorescence evidence of bullous pemphigoid were included. Results: There were 96 bullous pemphigoid patients, with a male: female ratio of 1.6:1. The mean age at diagnosis was 62.5 ± 2.2 years, with mean duration of illness 27.5 ± 4.5 months before presentation. Comorbidities were present in 80 (83%) patients, with type 2 diabetes mellitus (38.5%), hypertension (36.4%) and neurological illness (16.7%) being the commonest ones. Clinically, blisters were the predominant presentation in 81 (84.4%) patients. The majority (87.5%) of patients showed a predominant eosinophilic infiltrate on histopathology. Direct immunofluorescence revealed immunoglobulin G deposits with complement C3 in 77 (80.2%) cases. The majority of patients (77.1%) were treated with oral prednisolone, either alone (11.5%) or in combination (65.6%) with other topical and systemic agents. Topical steroids were used in 29.1%, azathioprine in 28%, dapsone in 16.7% and omalizumab in 6.2% of patients. Limitations: The study is retrospective. Immunofluorescence on salt split skin, direct immunofluorescence serration pattern analysis, and immunoblotting were not performed. Hence, there is a possibility that a few included cases were suffering from other subepidermal autoimmune bullous diseases like epidermolysis bullosa acquisita or anti-p200 pemphigoid. Conclusion: Bullous pemphigoid patients in this study had a younger age of onset and showed male preponderance. Comorbidities like type 2 diabetes, hypertension and neurological disorders were freq
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Psoriasis is a chronic autoimmune disorder that affects approximately 2-3% of the global population. It is characterized by red, scaly, and itchy patches on the skin that can cause signicant discomfort and have a negative impact on patients' quality of life. Despite being a well-known condition, the pathogenesis of psoriasis remains poorly understood, and there is no cure for the disease. Therefore, the management of psoriasis primarily focuses on symptom relief and improving patients' quality of life. The epidemiology of psoriasis varies by geographic location, ethnicity, and age, with some studies suggesting a higher prevalence among certain populations. The most common subtype of psoriasis is plaque psoriasis, which is characterized by erythematous plaques covered with silvery scales. Other clinical subtypes include guttate psoriasis, pustular psoriasis, erythrodermic psoriasis, and inverse psoriasis. Each subtype has unique clinical features and requires specic management strategies. Epidemiological studies have identied several risk factors for psoriasis, including family history, smoking, obesity, and stress. The exact mechanisms by which these factors contribute to the development and progression of psoriasis are not fully understood. However, it is thought that genetic and environmental factors interact to disrupt the normal immune response and trigger the inammatory cascade that drives psoriasis pathogenesis
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Objective:To explore the clinical features and prognosis of central nervous system involvement in patients with microscopic polyangiitis (MPA).Methods:We retrospectively investigated the clinical data of 138 MPA patients hospitalized with MPA in Tianjin Medical University General Hospital from January 1, 2010 to November 1, 2019. Patients were divided into two groups according to whether they had the central nervous system (CNS) involvement or not and then Kaplan-Meier survival curve was used to analyze the survival rate between the two groups, Logistic regression model analysis was adopted to analyze risk factors, and P<0.05 was considered statistically significant. Results:①29 patients (21.0%)among the 138 MPA had CNS-affected, including 13(44.8%) males and 16(55.2%) females. CNS involvement was present at the diagnosis of MPA in 20 cases (69.0%) and after the diagnosis of MPA in 9 cases (31.0%). ②The clinical manifestations were motor impairment in 14 cases (48.3%), sensory impairment in 10 cases (34.5%), speech loss in 9 cases (31.0%), headache in 8 cases (27.6%), consciousness disorder in 7 cases (24.1%), dysphagia and bucking in 4 cases (13.8%), cranial nerves involvement in 3 cases (10.3%). The imaging manifestations of the head included infarction, hemorrhage, infarction with hemorrhage and linear dural thickening. Five patients received lumbar puncture. One patient showed elevation of cerebrospinal fluid pressure, 1 patient had elevated protein and 5 patients showed elevation of LDH.③Eighteen patients received glucocortoid combined with cyclophosphamide. CNS symptoms recurred in 6 patients, four patients had recurrent cerebral infarction. ④Median survival time was 55 months in the CNS affected group [95% CI=(14.215, 95.785)] and 86 months in the N-CNS group [95% CI=(24.378, 147.622)]. Kaplan-Meier survival curve showed that there was no significant difference in survival rate between the two groups ( χ2=0.07, P=0.794) . Conclusion:The central nervous system involvement of microscopic polyangiitis is not uncommon. The clinical manifestations are various, with motor impairment the most. The most common imaging manifestation is cerebral infarction and the patients mainly presenteas multiple cerebral infarction. However, the CNS involvement of microscopic polyangiitis is not associated with mortality.
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Objective:To explore the differences on clinical characteristics, concomitant diseases and treatment status between psoriasis and psoriatic arthritis (PsA), and provide clues for the early diagnosis and treatment of PsA.Methods:Data were collected by in-person interview of 225 patients with psoriasis and 299 patients with PSA who visited the department of rheumatology and Immunology and Department of Dermatology in People′s Hospital of Peking University from November 2020 to May 2021. After informed consent, the questionnaire was completed on site. The differences of clinical characteristics, concomitant diseases, mental health evaluation and treatment status between patients with arthritis (PsA) and patients with psoriasiswere analyzed and compared. Enumeration data were described by frequency. Chi square test was used to compare categorical variables. Multivariate Logistic regression analysis was used to determine the independent risk factors. P value of less than 0.05 was considered statistically significant. Results:Dactylitis [ OR(95% CI)=8.439(4.677,15.226), P<0.001], hip pain [ OR(95% CI)=3.442(1.829,6.480), P<0.001], heel pain [ OR(95% CI)=2.621(1.652,4.157), P<0.001] and low back pain [ OR(95% CI)=1.924(1.156,3.203), P=0.012] may be closely related to the progression of PsA ( P<0.05). The three most common concomitant diseases of patients with PsA and psoriasis both were overweight [43.1%(129/299)、29.3%(66/225)], fatty liver [(28.4%(85/299)、23.1%(52/225)]and hypertension[24.1%(72/299、13.3%(30/225)]. The proportion of osteoporosis in PsA group at the age of 30-39 and 40-49 years old was significantly higher than those in psoriasis group (30-39 years old:12.5%(10/80) vs 1.5%(1/65), χ2=6.14, P=0.013; 40~49 years old: 19.2%(15/78) vs 2.0%(1/51), χ2=8.46, P=0.004]. The proportion of hypertension in PsA group was also higher than that in psoriasis group at the age of 40~49 years old[7.0% (21/78) vs 2.7%(6/51), χ2=4.99, P=0.026)]. And the proportion of fatty liver in PsA group was also higher than that in psoriasis group at the age ≥60 years old [(46.0%(23/50) vs 29.1(7/24), χ2=4.99, P=0.025)]. Among 299 PsA patients, 47.1%(141/299) had anxiety tendency, 45.2%(135/299) had sleep disorder and 41.8%(125/299) had depression tendency. Among 225 psoriasis patients, 44.4%(100/225) had anxiety tendency, 40%(90/225) had sleep disorder and 36.9%(83/225) had depression tendency, there was no significant difference in above-mentioned situations between the PsA and psoriasis patients ( P>0.05). Conclusion:More attention should be paid to the management of concomitant diseases and psychological intervention in patients with PsA. When psoriasis patients occur with heel pain, dactylitis, low back pain and hip pain, the risk of development into PsA should be considered.
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Objective:To analyze the features of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) co-infected with other common respiratory pathogens among coronavirus disease 2019 (COVID-19) patients in Shanghai City, and to provide a reference for scientific prevention and control of COVID-19 and other respiratory infectious diseases.Methods:Descriptive epidemiological approaches were used to analyze the data of COVID-19 reported cases in Shanghai City from January 2020 to February 2021 in the information system of Chinese Disease Prevention and Control. Clinical data of the participants were collected, and their SARS-CoV-2 nucleic acid-positive respiratory specimens were collected at the time of illness onset or admission. Multiplex reverse transcription-polymerase chain reaction (RT-PCR) was performed to detect the 22 respiratory pathogens. Independent-samples t test was used for statistical analysis. Results:Of the 272 patients with COVID-19, 15(5.5%) had co-infection of SARS-CoV-2 with other respiratory pathogens, all of which were double infection. There were three cases infected with enterovirus/rhinovirus, two of each with adenovirus, human metapneumovirus and coronavirus NL63/HKU1, and one of each with coronavirus 229E, influenza A virus H1N1, parainfluenza virus 1 and respiratory syncytial virus B. Two cases infected with Mycoplasma pneumoniae. Among the 272 COVID-19 patients, 212(77.9%) had fever, 117(43.0%) had cough, 46(16.9%) had fatigue, and 35(12.9%) had sore throat. The white blood cell count of co-infection cases was higher than that of non-co-infection cases ((6.8±1.7)×10 9/L vs (5.3±1.6)×10 9/L), and the difference was statistically significant ( t=3.09, P=0.008). Conclusions:There is a certain proportion of co-infection of SARS-CoV-2 with other respiratory pathogens among the COVID-19 cases in Shanghai City, mainly viral pathogens, especially enterovirus/rhinovirus. A rational combination of drugs was recommended to improve the cure rate. Surveillance of acute respiratory infection should be further strengthened as well.
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Objective:To analyze the clinical and epidemiological characteristics and changing trends of acquired immunodeficiency syndrome (AIDS)-associated talaromycosis in Shanghai City.Methods:The clinical data of patients with AIDS-associated talaromycosis hospitalized at Shanghai Public Health Clinical Center, Fudan University from Janauary 1, 2014 to December 31, 2021 were collected. The medical information included age, gender, place of origin, clinical symptoms, imaging manifestations, blood routine test, CD4 + T lymphocyte count. The chi-square test or Fisher exact probability test was used for statistical analysis. Univariate logistic regression was used to analyze the related risk factors for death. Results:From 2014 to 2021, a total of 12 165 AIDS patients were admitted, including 169 (1.4%) AIDS-assiociated talaromycosis patients. The proportions of AIDS-associated talaromycosis in AIDS inpatients from 2014 to 2021 were 1.8%(21/1 149), 1.1%(14/1 307), 1.3%(19/1 446), 0.9%(15/1 610), 1.2%(20/1 626), 1.2%(22/1 778), 1.7%(28/1 624) and 1.8%(30/1 625), respectively, which had not changed much. There was no statistically significant difference in the proportion of AIDS-associated talaromycosis in AIDS inpatients in different years ( χ2=9.50, P=0.218). Among the 169 patients, 157 cases (92.9%) were male, with the age of (37.9±12.2) years, and 35 were from Jiangxi Province, 31 from Shanghai Municipality, 29 from Zhejiang Province, 17 from Anhui Province, 14 from Fujian Province, 11 from Jiangsu Province, eight from Hunan Province, four from Heilongjiang Province, three cases each from Guangxi Zhuang Autonomous Region, Guizhou Province and Henan Province, two cases each from Hubei Province, Shandong Province, Shanxi Province, Yunnan Province and Guangdong Province, and one case from Chongqing Municipality. Patients from non-traditional endemic areas did not find a clear history of living in traditional endemic areas. Of 169 patients, 143(84.6%) cases had fever, 73(43.2%) had respiratory symptoms, and 26(15.4%) had rash during the course of the disease, 147(87.0%) had pulmonary imaging abnormalities, 94(55.6%) were complicated by other pathogens, and 44(26.0%) had hepatosplenomegaly, 137(81.1%) had CD4 + T lymphocyte count <50/μL. Twenty-three patients died, with the total fatality rate of 13.6%. The overall mortality rate showed a downward trend year by year. There was a statistically significant difference in the case fatality rate of AIDS-associated talaromycosis in different years (Fisher exact probability test, P=0.046). The result of univariate logistic regression model showed that patients with platelet count<50×10 9/L had an increased risk of death (odds ratio ( OR)=3.33, 95% confidence interval ( CI) 1.13 to 9.81, P=0.029). Conclusions:The overall change of AIDS-associated talaromycosis inpatients in Shanghai is not significant, while the prevalence rate has increased slightly in recent two years. The case fatality rate is declining year by year. The proportions of patients without a history of living in or traveling to epidemic areas and without rash as the first manifestation are high, and the main clinical manifestation is multi-system damage. Patients with platelet count<50×10 9/L have an increased risk of death.
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Primary pulmonary mucinous adenocarcinoma is a subtype of lung adenocarcinoma, and its epidemiology is similar to other pulmonary adenocarcinoma. Because of its low incidence rate, the survival data of patients with pulmonary mucinous adenocarcinoma are few and often contradictory. KRAS mutations often occur in pulmonary mucinous adenocarcinoma, but EGFR mutations are rare. The expression of PD-L1 in pulmonary mucinous adenocarcinoma is very low. Patients with early pulmonary mucinous adenocarcinoma can benefit from surgery. Lobectomy is still the standard operation at present, but sub lobectomy may also be effective for early pulmonary mucinous adenocarcinoma. Other treatment options include platinum based dual drug chemotherapy, targeted therapy targeting driving genes, and the recent rise of immunotherapy. Future new targets and corresponding treatments should require more research to confirm.
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Objective:To analyze the clinical data of adult patients with brucellosis and provide scientific basis for treatment of brucellosis.Methods:The medical records of 1 279 adult brucellosis patients treated in the Brucellosis Department of Hulunbuir People's Hospital from January 2013 to December 2020 were selected. Epidemiological characteristics, clinical characteristics, laboratory examination, complications and curative effect were analyzed retrospectively.Results:Among the 1 279 cases of brucellosis, there were 797 males and 482 females, with an average age of (39 ± 15) years. There were 464 cases in acute stage, 815 cases in chronic stage, and 1 221 cases contacted with animal fur such as cattle, sheep and sheep skin. The main clinical manifestations were fatigue (974), fever (819), hyperhidrosis (674) and joint and muscle pain (752). Spleen enlargement was the most common sign, with 151 cases in sequence. There were 623 complications in 1 279 patients with brucellosis. Bone and joint damage, blood system damage and liver damage were more common, with 563, 298 and 264 cases, respectively. Some patients even had multiple system damage. The titer range of in vitro agglutination test (SAT) in 1 279 patients with brucellosis was 1 ∶ 50++ to 1 ∶ 1 600++; 198 cases were positive for Brucella in blood culture; SAT was positive in 8 cases of cerebrospinal fluid and 4 cases of pleural effusion. There were 114 cases of leucopenia, 51 cases of leucopenia, 158 cases of thrombocytopenia, 93 cases of decreased hemoglobin, 205 cases of elevated alanine aminotransferase, 198 cases of elevated aspartate aminotransferase and 143 cases of elevated creatinine in 1 279 patients with brucellosis. Erythrocyte sedimentation rate increased in 587 cases and C-reactive protein increased in 563 cases. After treatment with two or three antibiotics for at least 12 weeks, the total effective rate was 98.3% (1 257/1 279). Conclusions:The clinical manifestations of brucellosis are varied. Clinicians should highly suspect brucellosis if the patient has a history of epidemiological exposure to brucellosis and has symptoms such as fever, sweating, joint muscle pain and fatigue. Early diagnosis and standardized treatment should be carried out to prevent the disease from becoming chronic and affecting the quality of life. The occupational population should strengthen physical examination and education for brucellosis.
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Objective:To analyze the clinical features of convulsion in rotavirus enteritis and the risk factors of multiple convulsion.Methods:The clinical data of children with rotavirus enteritis complicated with convulsion admitted to Xi'an Children's Hospital from January 2018 to March 2021 were retrospectively analyzed. According to whether there was fever during convulsion, they were divided into febrile seizure (FS) group and afebrile seizure (AFS) group.Results:A total of 274 children with rotavirus enteritis accompanied by convulsion were enrolled. The male to female ratio was 2.26∶1 in the FS group, while the male to female ratio was 1∶1.1 in the AFS group. The median number of vomiting in the AFS group was higher than that in the FS group: 4(2, 6) times per day vs. 2(1, 5) times per day, P<0.01. One convulsion was dominant in the FS group (80.68%), and more than two convulsions in the AFS group (62.90%). In the FS group, 60.23% of convulsions occurred on the first day of the course of disease, while in the AFS group,79.57% of convulsions mainly occurred on the second and third day of the course of disease. There was no statistical difference in duration of convulsion and overall course of disease between the two groups ( P>0.05). The median of hypersensitive C-reactive protein (CRP) and procalcitonin (PCT) in FS group were higher than those in AFS group: 5.52(1.45, 15.50) mg/L vs. 0.98(0.50, 3.17) mg/L, 0.17(0.07, 0.46) μg/L vs. 0.06(0.05, 0.15) μg/L. The median of alanine aminotransferase (ALT), aspartate aminotransferase (AST), uric acid (UA) and creatine kinase isoenzyme(CK-MB) in the AFS group were higher than those in the FS group: 28.00(21.00, 34.25) U/L vs. 25.00(19.00, 31.00) U/L, 53.00(45.00, 62.00) U/L vs. 50.00(40.00, 58.00) U/L, 390.00(296.00, 474.25) μmol/L vs. 331.00(250.00, 399.75) μmol/L, 67.00(49.75, 94.25) U/L vs. 59.50(37.25, 78.75) U/L, the differences were statistically significant ( P<0.05). The median age and the median of UA levels in ≥3 convulsions group were higher than those in ≤2 convulsions group: 21(18, 26) months vs. 18(15, 21) months, 411.00(296.50, 496.50) μmol/L vs. 364.00(278.00, 440.50) μmol/L, while the median of serum Na +, the mean value of serum Cl - in the ≥3 convulsions group were lower than those in the ≤2 convulsions group: 135.50(133.75, 137.25) mmol/L vs. 136.60(134.50, 138.20) mmol/L, (103.76 ± 3.26) mmol/L vs. (105.08 ± 4.26) mmol/L, the differences were statistically significant ( P<0.05). The age ≥18 months in children with rotavirus enteritis and convulsion ( OR = 3.359, P = 0.002, 95% CI 1.544 - 7.307) and the serum Cl - < 104.8 mmol/L ( OR = 2.17, P = 0.019, 95% CI 1.138 - 4.138) had an increased risk of convulsions ≥3 times during the course of rotavirus enteritis. Conclusions:Rotavirus enteritis FS mostly occurred on the first day of the course of disease, most of them had convulsion once, hs-CRP and PCT were relatively high. In AFS, convulsions were more than 2 times, and occurred on the 2nd and 3rd day of the course of disease. ALT, AST and UA were relatively high. Children with age ≥18 months and serum Cl - < 104.8 mmol/L had an increased risk of convulsions ≥3 times during the course of the disease.
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Objective:To Constructing a nomogram based on clinical, ultrasound and BRAF V600E gene for predicting cervical lymph node metastasis in patients with papillary thyroid carcinoma (PTC).Methods:The clinical data of 287 patients with PTC (374 malignant nodules) from December 2019 to December 2021 in the First Affiliated Hospital of Hunan Normal University were analyzed retrospectively. Among them, there were 205 nodes with cervical lymph node metastasis and 169 nodes without cervical lymph node metastasis. The echo type, capsule, boundary, shape, number, diameter, location, cystic and solid properties, aspect ratio, blood flow signal, echo distribution, ultrasonic classification, microcalcification and enlarged lymph nodes were observed by ultrasound. The mutation of BRAF V600E gene was detected by fluorescence polymerase chain reaction. The nomograph model for predicting neck lymph node metastasis in patients with PTC was constructed and validated by R3.6.3 software.Results:Univariate analysis result showed that gender, age, microcalcifications, aspect ratio, morphology, blood flow signal, diameter, echo distribution, enlarged lymph nodes, ultrasound classification and BRAF V600E gene were the risk factors for cervical lymph node metastasis in patients with PTC ( P<0.05 or <0.01). Multivariate Logistic regression analysis result showed that age (<40 years old), ultrasonic classification (≥4a) and diameter (>1 cm) were independent risk factors for cervical lymph node metastasis in patients with PTC ( OR = 2.847, 1.436 and 2.475; 95% CI 1.827 to 4.436, 1.075 to 1.918 and 1.505 to 4.069; P<0.01 or <0.05). The age, ultrasonic classification and diameter were included as predictors for constructing the nomogram model. The receiver operating characteristic curve analysis result shows that the area under the curve predicted by the nomogram model for neck lymph node metastasis in patients with PTC was 0.692 (95% CI 0.631 to 0.753). Conclusions:Nomogram based on age, ultrasonic classification and diameter is of high value in predicting neck lymph node metastasis in patients with PTC.
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Axenfeld-Rieger syndrome is a rare autosomal dominant hereditary disease characterized by anterior segment dysgenesis, which may be accompanied by various systemic defects, including craniofacial dysmorphism, hypodontia, microdontia, and redundant periumbilical skin.Its typical ocular manifestations include posterior embryotoxon, iris hypoplasia, peripheral anterior synechiae, corectopia and polycoria with a high prevalence of glaucoma.Patients can exhibit any combination of these features.However, family members with the same genotype may present different phenotypes due to phenotypic heterogeneity.Emerging evidence suggests that PITX2 and FOXC1 genes encoding transcription factors are primarily associated with genetic variants in ARS.Intragenic mutations and gene deletions are common types of genetic variations suspected to trigger changes in gene dosages and protein function.However, the underlying molecular mechanism remains unclear.Some patients with ARS carry mutations in the COL4A1, PRDM5, and CYP1B1 genes, but the pathogenicity of these variations has yet to be confirmed by further studies.This article provided an overview of the typical clinical features, potential correlations between phenotype and genotype, as well as gene function.
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Objective:To investigate the clinical characteristics of patients with keratoconus, and to explore the factors influencing keratoconus severity.Methods:A cross-sectional study was performed.A total of 908 patients (1 476 eyes) with primary keratoconus were enrolled in Henan Eye Hospital from January 2019 to December 2021.The medical history data of patients were collected by face-to-face questionnaire survey.Refractive parameters were measured by subjective optometry.Intraocular pressure (IOP) was measured by a non-contact tonometer, and corrected IOP was calculated by Dresden formula.Corneal topography parameters was obtained using Pentacam HR.The subgroup analysis of clinical characteristics of all patients was performed by age (<21 years, 21~<31 years, ≥31 years) and gender.Disease severity was graded based on steep keratometry (Ks), namely mild (Ks<48 D), moderate (48 D≤Ks<55 D) and severe (Ks≥55 D). The influencing factors of disease severity in keratoconus were analyzed by ordered Logistic regression.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Henan Eye Hospital (No.HNEECKY-2019[5]). All subjects or guardians were informed of the purpose and significance of the study and written informed consent was obtained.Results:Of the 908 patients, 622 were with bilateral keratoconus and 286 were with unilateral keratoconus.The median age of onset was 20(17, 26) years, and the median age of diagnosis was 21(18, 27) years.The ratio of males to females was 3.05∶1.There were 9.80%(89/908) of the patients having a history of allergy, 25.55%(232/908) having a history of other systemic diseases, and 1.98%(18/908) having a family history of keratoconus.Of the 1 476 affected eyes, 27.57%(407/1 476) were diagnosed as severe keratoconus, and 61.94%(568/917) had a history of eye rubbing.The medians of sphericity, cylindricity, IOP, corrected IOP, Ks, thinnest corneal thickness (TCT), anterior corneal surface elevation (AE) and posterior corneal surface elevation (PE) were -4.00(-7.00, -1.75)D, -3.50(-6.00, -1.50)D, 12.00(10.30, 13.80)mmHg, 15.40(13.60, 17.00)mmHg, 49.85(46.40, 54.90)D, 460.00(425.00, 490.00)μm, 21.00(13.00, 34.75)μm, 51.00(33.00, 75.00)μm, respectively.The spherical refraction, IOP and corrected IOP were lower and the cylindrical refraction was higher in patients at age <21 years than in patients at age 21~<31 years, and the TCT of patients at age <21 years was higher than that at age ≥31 years, and the differences were statistically significant (all at P<0.05). Compared with female patients, male patients had younger onset age, lower spherical refraction, IOP and corrected IOP, as well as higher cylindrical refraction, AE and PE, showing statistically significant differences (all at P<0.05). The spherical refraction and IOP of male patients were lower than those of female patients at age <21 years, and the cylindrical refraction was higher in males than in females among the patients at age 21~<31 years, and the differences were statistically significant (both at P<0.05). Among the patients with onset age <21 years and diagnosis age <21 years, the ratio of males to females in patients with severe keratoconus was higher than those with mild and moderate disease, and the difference was statistically significant (both at P<0.05). Older age of onset was a protective factor for disease severity in keratoconus (odds ratio=0.981, 95% confidence interval: 0.963~0.999). Conclusions:The younger the onset age of keratoconus patients, the more severe the disease.Among the patients with severe keratoconus, there were more male patients, and males have a younger onset age and severer conditions.It is suggested that early screening of keratoconus in children and adolescents should be strengthened in clinical work, and more active prevention and treatment measures should be taken for younger patients, especially males.
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Objective:To study the clinical characteristics and imaging features of neonatal ovarian cysts and to analyze treatment and prognosis of ovarian torsion.Methods:From January 2011 to December 2021,neonates with ovarian cysts admitted to the department of neonatology and pediatric surgery of our hospital were retrospectively studied. They were assigned into ovarian torsion group and non-torsion group. Their clinical manifestations, imaging features, pathological results, treatment and prognosis were reviewed and compared.Results:A total of 44 neonates with ovarian cysts were included, all without specific clinical manifestations. 10 neonates were treated with conservative therapy and 34 received surgery. Ovarian torsion were confirmed during surgery in 23 patients. All 34 patients received abdominal ultrasound preoperatively and 31 (91.2%, 31/34) were diagnosed with ovarian cysts. The accuracy rates of ultrasound for cyst location and ovarian torsion were 85.3% (29/34) and 82.6% (19/23),respectively. 30 patients received abdominal CT scan and 23 (76.7%, 23/30) were diagnosed with ovarian cysts. The accuracy rates of CT scan for cyst location and ovarian torsion were 53.3% (16/30) and 47.8% (11/23), respectively. Among the 34 patients treated with surgery, ovarian cyst dissection was performed in 11 patients and cyst resection in 23 patients with torsion necrosis. 24 patients had simple cysts including 15 torsion necrosis (62.5%, 15/24) and 10 had complicated cysts including 8 torsion necrosis(80.0%, 8/10). The average diameter of ovarian cysts was significantly larger in the torsion group [(8.4±1.6) cm] than the non-torsion group [(4.7±1.2) cm] ( P<0.05). Conclusions:Neonatal ovarian cysts are mostly unilateral without specific clinical manifestations. Large, bilateral and complex cysts are prone to torsion necrosis. Abdomen ultrasound has advantages than CT scan for the localization of the ovarian cyst and diagnosis of ovarian torsion. Surgical treatment is necessary after diagnosis.
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Thyroid cancer is the most common malignant tumor of the endocrine system, and its incidence is increasing year by year showing younger trend. The pathological types of thyroid cancer are papillary carcinoma, follicular carcinoma, medullary carcinoma and undifferentiated carcinoma. Medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC) are the two common types of thyroid cancer. Since MTC and PTC have different biological origins, invasiveness and prognosis. Therefore, the occurrence of both medullary carcinoma and papillary carcinoma is very rare and rarely reported in China and abroad and the treatment is challenging. In this paper, we review the pathogenesis, ancillary tests, diagnosis and treatment of this disease, with the aim of providing reference for clinical treatment of patients with medullary thyroid carcinoma complicated by papillary carcinoma.
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Objective:To analyse the clinical features and prognosis of pertussis in neonates and infants.Methods:The clinical data of neonates and infants with pertussis hospitalized in Children′s Hospital of Soochow University from September 2021 to September 2022 were retrospectively analyzed and grouped in terms of age, the severity of the disease, and whether a mixed infection, respectively.Results:A total of 40 infants with pertussis were analyzed.All cases showed improvement and were discharged after receiving active anti-infective treatment.In the neonatal group, higher rates of apnea and hyponatremia were observed compared to the non-neonatal group(all P<0.05).Additionally, peripheral blood leukocyte counts[20.9(15.0, 28.7)×10 9/L vs.16.6(11.3, 21.2)×10 9/L], neutrophil counts[4.6(3.7, 7.9)×10 9/L vs.3.2(2.1, 5.3)×10 9/L], γ-glutamyltransferase levels[78.0( 50.2, 109.4)U/L vs.22.5(15.1, 38.9)U/L], duration of hospitalization[21.5(16.8, 25.0)d vs.11.5(9.0, 19.8)d], and duration of oxygen use[7.0(0, 21.0)d vs.0(0, 2.3)d]were higher in the neonatal group than in the non-neonatal group(all P<0.05).However, the IgA level[0.02(0.02, 0.04)g/L vs.0.05(0.03, 0.09)g/L]was significantly lower in the neonatal group than in the non-neonatal group( P<0.05).In the severe group, the proportion of onset age of less than 3 months, fever, wheezing, shortness of breath, cyanosis after rough cough, apnea, decreased heart rate, wet rales on lung auscultation, respiratory failure, cardiac insufficiency, hyponatremia, CRP>8 mg/L, spotty/patchy shadows in the lungs, as well as the use of gammaglobulin, cardioactive drug and invasive ventilation, were higher than those in the non-severe group(all P<0.05).Furthermore, peripheral blood leukocyte counts[21.0(15.4, 37.4)×10 9/L vs.17.5(11.8, 21.2)×10 9/L], neutrophil counts[5.6(4.0, 10.7)×10 9/L vs.3.2(2.3, 4.6)×10 9/L], neutrophil to lymphocyte ratio[(0.6±0.4) vs.( 0.3±0.2)], systemic immune-inflammation index[237.5(109.5, 424.9) vs.135.9(75.4, 190.5)], γ-glutamyltransferase level[53.2(31.6, 87.4)U/L vs.29.5(15.2, 65.0)U/L], duration of oxygen use[18.0(12.8, 22.5)d vs.0(0, 0)d], and duration of hospitalization[24.5(21.8, 31.2)d vs.12.0(9.0, 16.8)d]were higher in the severe group than those in the non-severe group(all P<0.05).However, the IgA level[0.03(0.02, 0.04)g/L vs.0.05(0.03, 0.09)g/L]was significantly lower in the severe group than in the non-severe group( P<0.05).The mixed infection group had a longer duration of hospitalization and a higher proportion of fever than the single infection group(all P<0.05). Conclusion:Early detection of infantile pertussis can be challenging.Neonates with pertussis tend to experience severe symptoms, such as apnea, hyponatremia, elevated white blood cell count, and longer duration of oxygen use.Symptoms such as fever, wheezing, shortness of breath, decreased heart rate, wet lung rales, and spotty/patchy shadows in the lungs, as well as early elevated CRP, neutrophil to lymphocyte ratio, systemic immune-inflammation index, and decreased IgA levels are indicators of disease exacerbation.In mixed infections group, there is a higher proportion of fever.
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Group B streptococcus(GBS), also known as streptococcus agalactis, is a Gram-positive conditionally causative coccus that can colonize healthy humans.GBS is a common pathogen of bacterial meningitis in infants under 3 months of age.GBS serotype Ⅲ and sequence type 17(ST 17)are the most common and virulent, and there is a significant correlation between serotype Ⅲ and ST 17, and erythromycin resistance is high.Penicillin or ampicillin is the first-line drug in China.Children with GBS meningitis are at high risk of poor prognosis.Intrapartum antibiotic prophylaxis(IAP)may be given in the presence of specific risk factors for GBS invasion in newborns. IAP reduced the incidence of early-onset GBS, but did not significantly reduce early-onset mortality and late-onset morbidity.
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Objective:To investigate the clinical manifestations, pathological features, treatment and prognosis of primary bone lymphoma in children.Methods:The clinical data of children who were initially diagnosed as primary bone lymphoma and treated in Beijing Children's Hospital Affiliated to Capital Medical University from January 2016 to January 2020 were retrospectively analyzed, including gender, onset age, primary involvement site, clinical stage, pathological type, fracture, and clinical outcome. The related literature was reviewed.Results:All 11 children were initially diagnosed as primary bone lymphoma, with a median age of onset of 8.6 years old (2.7-12.3 years old), including 7 males and 4 females. There were 7 cases of diffuse large B-cell lymphoma (DLBCL), 3 cases of B lymphoblastic lymphoma (BLL), and 1 case of anaplastic large cell lymphoma (ALCL). The initial symptoms were bone pain in 8 cases, local swelling in 1 case, limp in 1 case, and fever in 1 case. One case was in stage Ⅰ, 7 cases were in stageⅡ, and 3 cases were in stage Ⅳ, and the most common sites of involvement were femur and tibia. All 11 cases were treated with chemotherapy according to different pathological types, with a median follow-up time of 45 months (7-80 months). Ten cases got complete remission, 1 case of BLL died of bone marrow recurrence after chemotherapy remission.Conclusions:The clinical manifestations of primary bone lymphoma in children are insidious, DLBCL is the most common pathological type, and the prognosis is good after standardized treatment.