ObjectiveTo observe and investigate the related factors that might affect clinical features of familial exudative vitreoretinopaty (FEVR) patients. MethodsA retrospective chart study. From January 2012 and December 2021, 42 patients with 84 eyes with a diagnosis of FEVR from Department of Ophthalmology, Peking University People's Hospital were included in the study. The patients came from 42 separate families. There were 31 males and 11 females, with an average age of first diagnosis was 16.6±33.7 months. There were 21 patients referred from other hospitals for the fundus disease found in eye screening after birth, 21 patients were first seen in our hospital. There were 4 and 38 premature and full-term infants, respectively. Two patients with a positive family history of FEVR. All patients are FEVR stages 1-5. The wide-angle digital pediatric retinal imaging system after general anesthesia for fluorescein fundus angiography (FFA) examination were performed for patients aged ＜5 years. If patients ≥ 5 years old, routine FFA examination was performed. Sixty-eight first-degree relatives from 28 families undergo routine fundus examinations and FFA examination. Genetic examination was performed for 26 families, including 26 probands and 57 first-degree relatives. Genetic examination were performed on gene the coreceptor of low density lipoprotein receptor-associated protein 5 (LRP5), Wnt receptor coiled protein 4 (FZD4), Norrie disease (NDP), tetraporin 12 (TSPAN12), catenin β1 (CTNNB1) genes known to be involved in FEVR. The clinical features and the genotype of FEVR were observed in relation to the clinical phenotype. ResultsAmong the 42 patients, 13 patients were first observed by strabismus and nystagmus, with the median age of 12 months. Eight patients were complained non-chasing or vision-related symptoms. Among the 84 eyes, FEVR stage 1 or 2, 3 or 4, and 5 were 50 (59.5%, 50/84), 31 (36.9%, 31/84), and 3 (3.6%, 3/84) eyes, respectively. Among the 23 patients who were > 3 months at first diagnosis, 16 patients had at least one eye severer than stage 3 (69.6%, 16/23). Of the 68 first-degree relatives, 22 (32.4%, 22/68) had FEVR-like changes. Among the 26 families that underwent genetic detection, 13 families (50%, 13/26) of 16 variants of FEVR-related genes were detected, of which 10 mutations of LRP5 gene were the most common. There were 10 families with single gene mutations, including 6, 2 and 2 families of LRP5, FZD4 and CTNNB1 genes, respectively. One family of LRP5 gene mutations were compound heterozygous mutations, 1 family with LRP5 gene mutaition combined with NDP gene mutation, and 1 family with LRP5 and TSPAN12 gene mutation. Among the proband with FEVR pathogenic genes, 6 cases with similiar stage of both eyes, and 7 cases with inconsistent disease stages, and there was no obvious correlation between gene mutations and clinical phenotypes. ConclusionIn addition to the age of first diagnosis, no exact factors affecting the clinical manifestations of FEVR are found, and the association between clinical phenotypic and genetic heterogeneity still needs to be further explored.
ObjectiveTo summarize the clinical pathologic features of primary tonsil tumor, in order to provide reference for its diagnosis and treatment.
MethodsWe retrospectively analyzed the clinical data from January 2002 to April 2012, and found 810 cases of malignant tumor and 113 cases of benign tumor. The pathologic patterns and clinical manifestations of these cases were recorded for analysis.
ResultsMost tonsil tumors were unilateral, and the malignant types were much more than the benign. The most common malignant tonsil tumors were lymphoma (610 cases), followed by squamous cell carcinoma (172 cases); inverted papilloma was the most common benign tumor (87 cases). Paresthesia in the pharynx was the most common clinical manifestation that existed in almost all cases.
ConclusionTonsil tumor pathological type is very important for its diagnosis, treatment and prognosis. Laying emphasis on pathological diagnosis and differential diagnosis could avoid missed diagnosis, misdiagnosis and improper treatment, which is particularly important for clinical physicians of the otolaryngology, head and neck surgery.
ObjectiveTo observe the clinical characteristics of elderly patients with demyelinating optic neuritis (DON), and preliminarily analyze the related factors affecting their visual prognosis. MethodsA observational clinical case-control study. A total of 107 patients with DON who were diagnosed and hospitalized in Beijing Tongren Hospital and its medical alliance Department of Ophthalmology, Beijing Puren Hospital from March 2019 to October 2023 were included in this study. Detailed medical histories were recorded, including time of onset, presence of ocular pain, treatment modalities, and follow-up status. All affected eyes underwent best-corrected visual acuity (BCVA) testing, orbital magnetic resonance imaging (MRI), and laboratory tests, including erythrocyte sedimentation rate (ESR), antinuclear antibodies (ANA), extractable nuclear antigens (ENA), aquaporin-4 (AQP4) antibodies, and myelin oligodendrocyte glycoprotein (MOG) antibodies in peripheral blood. Based on age, patients were categorized into the elderly DON group (≥50 years) and the young and middle-aged DON group (＜50 years), comprising 50 and 57 cases, respectively. Furthermore, the elderly DON group was subdivided by serum-specific antibody status into the AQP4 antibody-positive ON group (AQP4-ON group), the MOG antibody-positive ON group (MOG-ON group), and the double-negative ON group (DN-ON group), with 18, 10, and 22 cases respectively. The median follow-up duration was 36 months. Follow-up assessments were conducted using the same equipment, methods, and relevant examinations as those applied at baseline. Binary logistic regression analysis was performed to identify factors associated with visual prognosis in elderly DON patients. ResultsCompared with the DON group of young and middle-aged people, the incidence of binocular disease, accelerated ESR, MRI imaging score, the incidence of combined cardiovascular and cerebrovascular diseases, diabetes, tumors, and the proportion of adverse reactions of glucocorticoids in the elderly group were higher, and the proportion of ocular pain was lower. The differences were statistically significant (P＜0.05). Six months after the treatment, the number of cases with BCVA＞0.3 in the affected eyes in the elderly DON group and the young and middle-aged DON group was 28 (56.0%, 28/50) and 42 (73.7%, 42/57), respectively. The number of patients with BCVA＞0.3 in the elderly DON group was significantly lower than that in the young and middle-aged DON group, and the difference was statistically significant (P=0.034). Moreover, with the increase of age, the degree of improvement in visual acuity showed a decreasing trend. The proportion of females in the AQP4-ON group, the proportion of optic chiasm and posterior optic pathway involvement in acute MRI, and the positive rate of ANA/ENA were significantly higher than those in the MOG-ON group and the DN-ON group, and the differences were statistically significant (P＜0.05). The rate of optic disc edema in the MOG-ON group was significantly higher than that in the AQP4-ON group, and the difference was statistically significant (P=0.031). One and six months after treatment, the BCVA in the MOG-ON group was significantly better than that in the AQP4-ON group and the DN-ON group, and the difference was statistically significant (P＜0.05). The results of binary logistic regression analysis showed that at the onset of the disease, BCVA＜0.01 [odds ratio (OR) =2.60, 95% confidence interval (CI) 1.23-5.52, P=0.013] and accelerated ESR (OR=4.68, 95%CI 1.08-20.18, P=0.039) was an independent risk factor affecting the prognosis of BCVA in elderly patients with DON. ConclusionsThere are different clinical characteristics between elderly DON patients and young and middle-aged patients. The risk of combined systemic diseases and side effects of glucocorticoids is higher, and the visual prognosis is worse. There are also differences in clinical characteristics and visual prognosis among subgroups of different serological antibodies in elderly DON. Advanced age, the lowest visual acuity at onset and immune inflammatory indicators are all factors affecting the visual prognosis of DON.
Objective
To improve the knowledge of pulmonary mucosa-associated lymphoid tissue (MALT)lymphoma.
Methods
A patient diagnosed as pulmonary MALT lymphoma was reported and related literatures were reviewed.
Results
The patient was a 58-year-old male,admitted due to intermittent fever,cough,sputum production,chest tightness and fatigue for 4 years.The patient was diagnosed as "pulmonary tuberculosis and tuberculous pleurisy" in other hospital and received anti-tuberculosis treatment for 3 years.The CT of the chest showed consolidation in the right middle lobe,right low lobe and left lower lobe with bronchial ventilation levy,miliary nodules in the right middle lobe,interstitial thickening,and right pleural effusion.Ultrasound guided lung biopsy pathology of the right lung showed diffuse small lymphocytes infiltration.The immunohistochemistry showed positive staining of CD20,CD79α and Vim,and weakly positive staining of Ki67(15%).Therefore,the patient was finally diagnosed pulmonary MALT lymphoma.
Conclusions
Pulmonary MALT lymphoma has no specific clinical manifestations,so is easy to be misdiagnosed as pulmonary tuberculosis,pneumonia or lung cancer.The patients with suspicious pulmonary MALT lymphoma should undergo percutaneous lung biopsy,transbronchial lung biopsy or open lung biopsy as soon as possible for immunohistochemistry staining to confirm the diagnosis.
Pleuropulmonary blastoma (PPB) is a kind of rare malignancy which often occurs in children and is related to dysplasia. It always involves in pleura and lung. PPB is misdiagnosed easily because of its special pathophysiological characters and complex biological behavior. Early detection and correct treatment are very important for thoracic surgeon to cure PPB. This paper reviews the advance of pathophysiological characters, molecular genetic characters, clinical manifestation, clinical diagnosis and differential diagnosis, and treatment and prognosis of PPB.
Objective To investigate the clinical manifestation and radiological features of unknownetiology ostearthritic disease in Shigeng village of Chongzhou city in Sichuan province so as to lay a basis for further study. Methods The data were analyzed retrospectively. The epidemiology investigation, physical examination, movement functional assessment, lab test and X-ray examination were performed on 116 villagers of 3 years and more than. Quantitative analysis on roentgenography was conducted. Results Sixty-four villagers had unknown ostearthritic disease，the prevalence was 55.2%；17 patients were limp, the prevalence of limp was 26.6%，onset age mainly focused under 40 years. Main manifestation of osteoarthritic disease was fixed pain of knee joint or hip joint, and bilateral pain was significantly more than single pain, but local fever and swelling were not obvious. Mild or moderate pain account for 73.5% of patients, and pain was aggravated after physical labor or movement and could be relieved after rest. Joint pain had no influence on joint movement function for long time, leading to a limp due to the joint functional disorders at late stage. Physical examination illustrated the flexion contracture of the hip and limitation of internal and external rotation. The Harris scores were 86.5±17.1(left hip) and 86.3±17.2. 46 (right hip), and the excellent or good result was achieved in 46 patients, fair and poor results in 18 patients. The average HSS scores were 88.4±9.3(left knee) and 88.2±11.0(right knee). The excellent or good result was achieved in 61 patients, fair and poor results in 3 patients. The X-ray films showed degenerative disorders of hip joint such as narrowing of the joint space (47.6%)，articular surface sclerosis and deformation (30.2%), shallow and increased density acetabulum, increased obliquity and insuffi cient coverage of the femoral head by the acetabulum, and increased femoral neck-shaft angles. Radiological features of knee joint were bony spur or bony bridge，osteoporosis，incomplete and thickening articular surface with sclerosis and deformation，degenerative disorders. Conclusion Main clinical manifestation of unknown osteoarthritic disease in Chongzhou city was fixed pain of bilateral knee joint or combined with hip joint pain at early stage，and functional limitation in hip joint at late stage. Main radiological feature was hip joint degeneration. To effectively control the osteoarthritic disease ofthis area, much more etiology researches should be done.
Objective To investigate the clinical manifestations, CT and prognosis of pontine hemorrhage. Methods Analyze the summarized clinical data of 21 patients with pontine hemorrhage retrospectively. Results The period of 46-70 years old was vulnerable to pontine hemorrhage,and hypertension was the major risky factor of it. The death rate of pontine hemorrhage inceases when the bleeding beyond 5 ml. Nine of the 21 patients survived. Conclution The prognosis was highly related to the bleeding amount, the position of bleeding and the complication.
Objective
To improve the knowledge of bone marrow tuberculosis by summarizing the risk factors, clinical features, diagnosis, therapeutic response and prognosis.
Methods
The medical records of 62 patients with bone marrow tuberculosis from January 2004 to December 2014 were retrospectively analyzed.
Results
The patients included 34 males and 28 females. Their age ranged from 15 to 80 years with a mean age of 45.3±35.7 years. Among them, 21 cases (33.9%) had one or more risk factors such as advanced kidney disease or liver disease, chronic respiratory disease, rheumatoid immune system disease and diabetes. No specific clinical features were found in patients with bone marrow tuberculosis, and the most common symptom was fever (98.4%). Blood routine examination revealed that variety of hematological abnormalities include leucopenia, thrombocytopenia, anemia or pancytopenia occurred in 59 patients (95.2%). Chest CT scan showed typical disseminated tuberculosis in 22 patients (36.1%), secondary pulmonary tuberculosis in 6 patients (9.8%), and atypical manifestations of tuberculosis in 26 patients (42.6%). The common patterns of abdomen abnormalities on ultrasonic testing or CT scan were hepatosplenomegaly. Bone marrow biopsy was performed in all the 62 patients, among them, the needle-aspirated bone marrow specimens showed granulomatous lesions in 53 patients (85.5%). The acid-fast staining of bone marrow smear was performed in a total of 57 patients, which was positive in 28 patients (49.1%). Twenty-five patients completed phone call follow-up, and 8 patients died from bone marrow tuberculosis and its complications.
Conclusions
Bone marrow tuberculosis is a rare manifestation of disseminated tuberculosis. The common symptom of this disease is pyrexia . The clinical presentations and laboratory examinations of this disease are nonspecific. Bone marrow biopsy is a major method for diagnosis. Part of patients with bone marrow tuberculosis lack of imaging proof for lung lesion. Therefore, we should heighten vigilance for bone marrow tuberculosis in patients with fever of unknown origin.
ObjectiveTo analyze the clinical characteristics and epidemiological characteristics of patients with coronavirus disease 2019 treated early in Jiangxi province.MethodsFour-night patients with coronavirus disease 2019 treated in this hospital from January 21st to 27th, 2020 were included in this study. The epidemiological and clinical data of patients after admission were collected, and laboratory tests such as blood routine, urine routine, stool routine, liver and kidney function, electrolytes, myocardial enzymes, erythrocyte sedimentation (ESR), C-reactive protein (CRP), calcitonin, coagulation, T cell subset and Chest CT were reviewed. The clinical results of common and severe/critically ill patients were compared.ResultsOf the 49 patients, 40 were common and 9 were severe/critical. Fourty-six patients had a clear history of contact with Wuhan or other areas of Hubei. The sex ratio was 2.06∶1, and the average age was 42.9 years. The symptoms were mainly fever (78.7%), cough (38.8%), and fatigue (18.4%). 28.6% (14 cases) of patients had hypertension and diabetes. Serum lymphocyte count and calcium concentration of the patients were decreased, but lactate dehydrogenase, ESR, CRP and serum amyloid A were increased in these patients. T lymphocyte subsets (CD3+, CD4+, CD8+) decreased significantly in these patients. Forty-seven patients (95.9%) had single or scattered patchy ground glass density shadows on the chest CT. Compared with common patients, the patients with severe/critical patients were older (P=0.023), hospitalized later (P=0.002), and had higher comorbidities (P=0.017). ESR (P=0.001）, CRP (P=0.010) and the serum amyloid A (P=0.040) increased significantly, while CD3+ (P<0.001), CD4+ (P=0.012), CD8+ (P=0.006) decreased significantly in severe/critical patients.ConclusionsThe patients with coronavirus disease 2019 in Jiangxi province are commonly imported from Wuhan. Severe/critical patients are older, hospitalized later, and have more medical complications and more severe systemic inflammatory reactions than common patients.
Objective To investigate the clinical characteristics， diagnosis， and treatment of gastric stromal tumor. Methods Clinical data of 217 patients with gastric stromal tumor from October 2007 to July 2011 were analyzed. Results The main clinical manifestation were abdominal pain， abdominal distension， bloody stools， abdominal mass， and so on. The tumour located at cardiac part， fundus of stomach， body of stomach， and pylorus part was 24 cases （11.0%）， 103 cases （47.5%）， 59 cases （27.2%）， and 31 cases （14.3%）， respectively. All the 217 patients underwent endoscopic or surgical resection and diagnosed by pathology and immunohistochemistry. The patients of high-low risk， low risk， intermediate risk， and high risk was 56 cases （25.8%）， 67 cases （30.9%）， 41 cases （18.9%）， and 53 cases （24.4%）， respectively. One hundred and forty patients were followed-up for 7-52 months （average 35 months）. Thirty-five patients of high risk were investigated about the drug treatment after the first operation：19 cases were treated by using imatinib （tumor progressed in 2 cases） and 16 patients were not （tumor progressed in 9 patients）. The rate of progression of patients treated by imatinib was significantly lower than another group （χ2=8.426， P=0.004）. In 11 patients with tumor progressed， tumor recurrnce in 4 cases， tumor recurrence with diffused abdominal cavity metastasis in 1 case， tumor metastasized to humerus in 1 case， metastasized to liver and abdominal cavity in 1 case， and metastasized to liver in 4 cases. Conclusions Gastric stormal tumor is lack of specific clinical manifestations. Complete excision of the tumor is the main therapy method， and imatinib can improve prognosis.
