ObjectiveTo summarize the clinical manifestations and treatment of plasma cell mastitis. MethodsWe retrospectively analyzed the diagnosis and treatment of 53 patients with plasma cell mastitis admitted into the hospital between January 2008 and December 2014. ResultsTwelve patients with nipple discharge underwent mammary gland segment resection in which the complete discharging tube system and part of the normal gland were resected. In the 26 patients with inflammatory masses, 12 had acute inflammation with mass formation who were treated with abscess incision drainage and silver alginate wound dressing before second-stage lesion resection. Fourteen patients with only local swelling, tenderness and no abscess formation underwent lesion resection after the abscesses were reduced by combined traditional Chinese medicine (TCM) and western medical treatment. Seven patients with painless mass all had abscesses in the areola area, among whom 5 had complete inflammatory capsule and they underwent lumpectomy. Two patients had cheese-like tissue beside the abscess, and they underwent segmental resection. In the 8 patients with chronic fistula, one at the age of 51 was cured by simple mastectomy after recurrence, and the other 7 underwent lesion resection after combined TCM and western medical treatment. All the 53 patients were diagnosed to have plasma cell mastitis by surgical biopsy, and they were all cured with no recurrence 6 months after surgery. Conclusions Plasma cell mastitis is usually misdiagnosed because of its diversified clinical manifestations. For patients whose lesion is large and not confined, it's better for them to receive combined TCM and western medical treatment. Surgical time and approach should be chosen appropriately. Surgical lesion resection is the only method for complete treatment in patients with plasma cell mastitis.
ObjectiveTo summarize clinical electrophysiological features and efficacy of some of Anti-epileptic drugs(AEDs) of Juvenile myoclonic epilepsy (JME). MethodsClinical electrophysiological information of 101 outpatients with JME observed at Xuanwu Hospital from Jul. 2001 to Sep. 2014 was retrospectively analyzed, including the seizure types, trigger factors, electroencephalogram. We followed some of these patients and compared the efficacy between different AEDs. Result According to different seizure types, there are four subtypes: Myoclonus (MJ) only 11.88%, MJ+generalized tonic-clonic seizure(GTCS) 75.24%, MJ+GTCS+Absence(Abs) 11.88%, MJ+Abs 1.00%. Patients with typical ictal generalized poly-spike and waves (PSW) or spike and waves (SW) or spikes account for 96.80%. And 75.00% of patients have no MJ and 91.80% have no GTCS with valproic acid monotherapy. 65.00% and 88.24% of patients were seizure free of MJ and GTCS recpectively. But the difference of efficacy between these two drugs have no statistically significance. Sleep deprivation was the primary trigger factors, accounting for 16.83%. ConclusionJME has clinical heterogeinety, clinicians should fully understand the whole condition of JME individual, including their clinical manifestation, EEG features, reaction to AEDs, trigger factors, habitual patterns and so on, in order to help making individualized therapy.
ObjectiveTo investigate the clinical and imaging features of patients with pulmonary lymphangioleiomyomatosis (PLAM),to improve the knowledge of this disease. MethodsEighteen patients with PLAM admitted into Zhongshan Hospital between 2003 and 2013 were retrospectively analyzed. Relevant literatures were reviewed. ResultsAll the 18 cases were female and had dyspnea on exertion. Three of them suffered from chylothorax,6 from pneumothorax and 5 from hemoptysis. The high resolution CT (HRCT) findings in all the 18 cases showed multiple small cysts with thin wall diffusely distributing in the bilateral lung. PLAM was confirmed by biopsy in 14 cases. Pulmonary function tests in 4 cases showed obstructive ventilatory dysfunction. Nine cases (50%) were misdiagnosed as other diseases. All the patients were given symptomatic and supportive treatment. Literatures review showed that as a rare diffuse lung disease,PLAM is more common in women of childbearing age,mainly presenting with dyspnea,hemoptysis,pneumothorax and chylothorax. Diagnosis of the disease relies on medical history,HRCT features and lung tissue biopsy pathology. HRCT examination has diagnostic value for PLAM. Although anti-estrogen treatment has certain effects,rapamycin may be a promising drug for PLAM therapy. ConclusionPatients with PLAM have characteristic clinical and radiographic manifestations. Early diagnosis and effective treatment are keys to the management of patients with PLAM.
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.
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.
ObjectiveTo identify and observe the pathogenic genes and clinical phenotypes of a family with a special platelet phenotype, Hermansky-Pudlak syndrome type 6 (HSP6). MethodsA retrospective clinical study. In November 2019, one proband and three family members from six HSP families who visited Henan Eye Hospital were included in the study. The child's medical history and family history were inquired in detail. The proband and all family members underwent best corrected visual acuity (BCVA), fundus color photography, frequency-domain optical coherence tomography, and general physical examination. The proband underwent platelet transmission electron microscopy (PTEM) and colonoscopy. Peripheral venous blood was collected from the proband, her parents and younger brother, and genomic DNA was extracted. Whole exome sequencing (WES) was used to screen pathogenic genes and their loci. Bioinformatics analysis determines the pathogenicity of gene variation sites. Fluorescence quantitative polymerase chain reaction (RT-qPCR) and Western blot were used to verify the related variations. ResultsThe proband (Ⅱ-1) was a 7-year-old female. The BCVA in both eyes was 0.1, who exhibited mild horizontal nystagmus and iris depigmentation. Fundus examination revealed obvious depigmentation and an underdeveloped fovea centralis. At the age of 7, the patient underwent colonoscopy due to acute gastrointestinal bleeding. A polyp approximately 5 mm in size was found on the floor of the sigmoid colon, with erosion and mucosal leukoplakia on its surface. PTEM showed that the number of platelet dense granules was normal, but the nuclei were small or exhibited low compactness. The skin on both lower legs showed pigmentation. The clinical phenotypes of the proband’s parents (Ⅰ-1, Ⅰ-2) and younger brother (Ⅱ-2) showed no obvious abnormalities. WES revealed that the proband carried compound heterozygous variants in exon 1 of the HPS6 gene: c.60_64dup (p.L22fs) (M1) and c.1147_1148del (p.L383fs) (M2). The mother carried the M1 variant, while the father and younger brother carried the M2 variant. Bioinformatics analysis predicted that both variants were pathogenic. RT-qPCR results showed that, compared with the relative expression level of HPS6wt mRNA, the relative expression levels of HPS6L22fs and HPS6L383fs mRNA were significantly decreased (t = 3.549, 4.560; P＜0.05). Western blot analysis demonstrated that the HPS6L383fs protein was truncated, whereas the HPS6L22fs protein was not detected. ConclusionsThis family is a special HPS6 with a normal number of dense platelet granules. The compound heterozygous variations of M1 and M2 in the HPS6 gene are pathogenic genes in this family.
ObjectiveTo explore the effects of cytokines on Febrile seizures (FS) in children with febrile seizures (Febrile seizures), febrile seizures duration and prognosis, and to explore the correlation between cytokines and the clinical manifestations and prognosis of FS. MethodsA retrospective analysis was performed on 121 children with FS (77 cases in the simple FS group and 44 cases in the complex FS group) who were treated in the pediatrics department of the Maternal and Child Health Hospital of Inner Mongolia Autonomous Region from January 2021 to October 2022 as the experimental group, including 71 males and 50 females, with a male-to-female ratio of 1.42:1, according to the type of attack (93 cases in the comprehensive group, 44 cases in the complex FS group). The focal group (28 cases) and convulsion duration (91 cases in <5 min group and 30 cases in ≥5 min group) were divided into groups, and 127 cases of children with fever but no convulsions were compared with the control group. In addition, 121 children with FS were followed up for 1 year by neurology specialist outpatient department and telephone follow-up. According to the follow-up, they were divided into the first course group, the relapse group and the secondary epilepsy group, so as to further explore the correlation between cytokines and the prognosis of children with FS. ResultsExperimental group compared with control group: Serum IL-1β (1.38 pg/mL), IL-2 (2.26 pg/mL), IL-4 (1.53 pg/mL), IL-6 (10.51 pg/mL), IL-10 (3.09 pg/mL), IL-12p70 (1.74 pg/mL), TNF-α (2.11 pg/mL), IFN-γ (46.56 pg/mL), IL-1β (1.38 pg/mL), IL-1β (1.26 pg/mL), IL-4 (1.53 pg/mL), IL-6 (10.51 pg/mL), IL-10 (3.09 pg/mL), IL-12P70 (1.74 pg/mL), TNF-α (2.11 pg/mL), IFN-γ (46.56 pg/mL). IFN-α (25.92 pg/mL) levels were higher, and the differences were statistically significant (P<0.05). There was no significant difference between the simple group and the complex group (P>0.05). <5 min group compared with control group: serum levels of IL-2 (2.32 pg/mL), IL-4 (1.53 pg/mL), IL-6 (9.65 pg/mL), IL-12p70 (1.74 pg/mL), TNF-α (2.11 pg/mL), IFN-γ (44.63 pg/mL), IFN-α (29.67 pg/mL) were higher, and the differences were statistically significant (P<0.05). Compared with control group, the levels of IL-2 (2.06 pg/mL), IL-6 (14.67 pg/mL), IL-12p70 (1.97 pg/mL), IFN-γ (58.56 pg/mL) and IFN-α (17.50 pg/mL) in ≥5 min group were higher, and the differences were statistically significant (P<0.05). ROC curve analysis showed that serum IFN-α had a high predictive value for FS onset, the cut-off point was 8.64pg/ml, and the sensitivity and specificity were 75.63% and 76.38%, respectively. There was no significant difference between the first course of disease group, relapse group and secondary epilepsy group. ConclusionSerum proinflammatory cytokines IL-1β, IL-2, IL-6, IL-12p70, TNF-α, IFN-γ, IFN-α and anti-inflammatory cytokines IL-4 and IL-10 are involved in the pathogenesis of FS. There was no correlation between the simplicity and complexity of serum cytokines. IL-2, IL-6, IL-12p70, IFN-γ, IFN-α were positively correlated with the duration of convulsion. When serum IFN-α>8.64 pg/ml, the possibility of FS attack increased.
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 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.
ObjectiveTo analyze the clinical manifestations and laboratory test results of 357 cases of first-diagnosed systemic lupus erythematosus (SLE), and provide a reference for SLE diagnosis. MethodsA total of 357 SLE patients on their first diagnosis were collected from 2008 to 2012 in our hospital, and the clinical manifestations and laboratory findings of these patients were recorded and analyzed. ResultsAll the patients had different clinical manifestations and serious multi-system damages. In these patients, there were 59.1% (211 cases) involved with arthritis, followed by rash and kidney damage. The complement declined in 75.9% of the patients according to the results of immunological tests. In the ENA spectrum inspection, anti-SSA antibody had the highest positive rate (51.3%), followed by anti-u1RNP antibody (44.0%), anti-dsDNA antibody and anti-nucleosome antibody. The first onset of most clinical manifestations was rash (43.4%), followed by arthritis and lower extremity edema; a few patients had headache or numbness as the first symptom. ConclusionSLE patients have diverse clinical manifestations, serious multi-system damages and outstanding heterogeneity, which is inconsistent with foreign reports.