Objective To investigate early clinical manifestations of osteogenic sarcoma to help establishment of an early diagnosis of the disease.Methods A total of 92 patients with osteogenic sarcoma in the extremities were admitted to our hospital from April 1984 to October 2002. Of the 92 patients, 71 (42 males and 29 females; averaged age 17.4 years, range 666 years; illness course 1-28 weeks) had a complete record of their medical history and examination. From their first medical visits, we obtained their clinical symptoms, physical sings, diagnoses, and duration of the delayed diagnoses. The patients were pathologically confirmed as having osteogenic sarcoma in the extremities, with the lesions located in the distal femur in 38 patients, proximal tibia in 22, proximal femur in 3, proximal fibula in 3, proximal humerus in 2, distal tibia in 2, and distalradius in 1. Results Of the 71 patients, 70 had a local pain and/or a palpable mass, 37 had a persistent pain with no difference between day and night, 23 had an intermittent pain, and 11 had a nocturnal pain. Of the 71 patients, 42 had an initial pain related to trauma, and 3 of the 42 patients had a pathologic fracture. The patients with the local mass had a delayed diagnosis of osteogenic sarcoma with a delayed duration of 1-14 weeks, averaged 4 weeks; however, the patients without the local mass had a delayed diagnosis of this disease, with a delayed duration of 3-30 weeks averaged 14 weeks. In the patients undergoing an X-ray examination at the first medical visit, the duration of the delayed diagnoses was 1-20 weeks, averaged 8 weeks, but in the patients without an X-ray examination at first, the duration was 4-30 weeks, averaged 16 weeks. Conclusion Intermittent and persistent pains and local masses are the most characteristic clinical manifestations in the early stage of osteogenic sarcoma. A history of trauma often helps to make a diagnosis of the disease. Carefulclinical examination and observation should be given to adolescent patients whohave a recurrent pain around the joint.
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 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.
ObjectivesTo compare the clinical features of combined pulmonary fibrosis and emphysema (CPFE) and idiopathic pulmonary fibrosis (IPF).MethodsEighty-three patients diagnosed as CPFE or IPF for the first time were retrospectively analyzed from June 2014 to July 2018 in Nanjing Drum Tower Hospital, including 47 patients in the CPFE group and 36 in the IPF group. The demographic characteristics, clinical manifestations, pulmonary function, cardiac ultrasound, blood gas analysis and prognosis of the two groups were compared.ResultsThe proportion of smokers in the CPFE group was higher than IPF group (P<0.05), but dyspnea was lower (P<0.05). The FVC, FVC%pred, FEV1, FEV1%pred and VC% of the CPFE group were higher than IPF group (P<0.05), while FEV1/FVC%pred in the IPF group was higher than CPFE group (P<0.05). DLCO/VA%pred of CPFE group decreased more significantly than IPF group (P<0.05), RV/TLC%pred of CPFE group increased annually, while decreased annually in IPF group (P<0.01). The RV%pred of CPFE increased annually, while that of IPF group decreased annually (P<0.05). There was no significant difference in arterial oxygen pressure and pulmonary artery pressure between the two groups. As for prognosis, the 1- and 3-year survival rate of the CPFE group were 87.9% and 73.8% respectively, those of the IPF group were 84.1% and 65.8% respectively, and no significantly difference was observed between two groups (P=0.95).ConclusionsCompared with IPF, patients with CPFE usually have more smokers, less proportion of dyspnea, almost normal lung volume, more rapidly decreased DLCO/VA%pred, and no significant difference in prognosis.
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.
ObjectiveTo explore the clinical characteristics of different types of prolactinoma and the therapeutic effect of bromocriptine.MethodsThe medical records of patients with prolactinoma treated by bromocriptine from January 2010 to December 2016 were retrospectively analyzed, and the patients were followed up.ResultsA total of 106 cases of prolactinoma were included, in whom 67 were microprolactinomas, 31 were macroprolactinomas, and 8 were giant prolactinoma. There were differences in the distributions of gender and age, prolactin level, clinical manifestations and the effective dose of bromocriptine among the three groups (P<0.05). After the treatment of bromocriptine, the level of serum prolactin was restored to normal in 61 cases in microprolactinoma group, 26 cases in macroprolactinoma group and 6 cases in giant prolactioma group. For improvement of the main symptoms, there were 63 patients in microprolactinoma group, 27 in macroprolactinoma group and 6 in giant prolactioma group. Furthermore, the shrink or disappearance was achieved in 28 patients in microprolactinoma group, 23 in macroprolactinoma group, and 8 in giant prolactioma group. The statistical results showed no significant difference in normal prolactin level and improvement of symptoms among the three groups (P>0.05), but the reduction of tumor volume were statistically different (P<0.05).ConclusionsMicroprolactinomas and macroprolactinomas are mostly seen in childbearing-aged women with main manifestations of menstrual disorders and lactation, while giant prolactinomas are mostly seen in middle-aged men, with main manifestations of headaches and visual field disorders. Bromocriptine has a good effect on prolactin adenomas with various sizes. Therefore bromocriptine should be the first choice for different types of prolactinomas.
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.
Hydroxychloroquine is widely used in a variety of autoimmune diseases. However, long-term use of hydroxychloroquine can cause severe retinopathy, which has a complex pathogenic mechanism and diverse clinical manifestations, mainly manifested as photoreceptor and retinal pigment epithelial damage and irreversible vision loss. Identifying damage before retinitis pigment epithelium lesions preserve central vision, so early detection is crucial to slow disease progression and reduce vision loss. The development of multimodal imaging technology and the issuance of the latest treatment guidelines provide a powerful tool for the early screening and treatment of hydroxychloroquine retinopathy. Proficient in the latest guidelines for the treatment of hydroxychloroquine can better guide clinicians to do a good job in disease screening and management, recommend risks, safe dosages and appropriate screening procedures to patients and strengthen the prevention of hydroxychloroquine retinopathy, which will help save the vision of more patients and reduce the waste of medical resources.
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.
