骨斑点症X 线诊断(附家族三代3 例报道及文献复习)

目的:探讨家族性骨斑点症的临床及X线表现特征,提高X线诊断准确水平。方法:回顾性分析经临床证实的3例骨斑点症患者的临床及X线表现,并复习相关文献。结果:家族性骨斑点症X线特征为关节骨端多发斑点状致密影,边缘清楚,密度均匀。本组患者中2例有症状,1例患者无任何症状。常规生化检测无异常。结论:根据典型的X线特征及遗传特点,对骨斑点症可见做出正确诊断。     

Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature

Obesity in humans is a complex polygenic trait with high inter-individual heritability estimated at 40-70%. Candidate gene, DNA linkage and genome-wide association studies (GWAS) have allowed for the identification of a large set of genes and genomic regions associated with obesity. Structural chromosome abnormalities usually result in congenital anomalies, growth retardation and developmental delay. Occasionally, they are associated with hyperphagia and obesity rather than growth delay. We report four new individuals with structural chromosome abnormalities involving 10q22.3-23.2, 16p11.2 and Xq27.1-q28 chromosomal regions with early childhood obesity and developmental delay. We also searched and summarized the literature for structural chromosome abnormalities reported in association with childhood obesity.     

布氏杆菌脑膜炎病例报道2例及文献复习

目的:目前布氏杆菌性脑膜炎在国内只是偶见报道,本文报道2例布氏杆菌性脑膜炎,对其诊断及治疗进行探讨,并对布氏杆菌脑膜炎进行文献回顾.方法:我们近期连续通过检查脑脊液内布氏杆菌抗体的办法诊断了2例布氏杆菌性脑膜炎,并通过给予四环素、利福霉素及链霉素治疗1个月并通过随访.结果:半年后脑脊液内布氏杆菌抗体恢复阴性,临床症状完全消失.结论:通过我们的观察应用上述3联药物综合治疗1月对布氏杆菌性脑膜炎是有效的.     

骨斑点症的X线分析(附6例报道及文献复习)

目的:对骨斑点症的临床特征、发病机理及鉴别诊断进行讨论,并探讨骨斑点症的X线特征,以提高对该病的影像学认识。方法:回顾性分析6例骨斑点症患者的临床及X线表现,其中3例患者属于同一家族,并对1例28岁患者随访1年,并复习相关文献。结果:病变好发部位为骨盆、跗骨、腕骨、指(趾)骨和长管状骨的骨骺及干骺端,影像表现为0.2~1.6 cm散在多发的大小不等的圆形或卵圆形致密阴影为特征,靠近关节面病灶较密集,大部分病灶位于松质骨内,病灶长轴与骨小梁走行相平行,密度均匀,边界清晰,相邻关节软骨骨质未见异常改变,其中4例病灶呈双侧对称性分布。1例随访病灶未见有明显变化。6例患者无任何症状,男女比为2:1,实验室相关检查均未见异常。结论:骨斑点症属于骨发育异常,是一种遗传性疾病,具有遗传学特点,X线检查是发现和诊断本病的主要依据,其X线表现具有特征性,熟悉其临床及X线特征有助于提高对该病的诊断。     

胎盘植入的影像学表现(病例报道及文献复习)

目的:探讨胎盘植入(placental implantation abnormality,PIA)的影像学表现特征。方法:分析经手术病理证实的1例胎盘植入的MRI及超声表现,并复习文献资料。结果:MRI:以同序列子宫外围肌层信号为参照,T_1WI植入胎盘呈等信号或略高信号,与宫壁结构分界不清;T_2WI植入胎盘呈高信号,信号强度高于宫壁,胎盘组织侵入肌层,结合带局部变薄或中断;T_1WI增强,胎盘显著强化,明显强于宫壁。超声:局部胎盘厚度增加,其内见多个大小不一、形态不规则的无回声区;胎盘后方子宫肌层厚薄不均,其内见大片状稍强回声区;胎盘与子宫肌层接触的地方有异常的彩色的血流。结论:胎盘植入的影像学表现具有特征性,MRI结合超声检查有助于做出正确的定位和定性诊断。     

The Cardiomyopathy of Muscular Dystrophy: Report of Two Cases with a Review of the Literature

About 50% of patients with progressive muscular dystrophy have a cardiomyopathy, manifested commonly by tachycardia, but also by arrythmias, refractory congestive heart failure and sudden death. Studies from the literature report manifold but nonspecific electrocardiographic changes in 41% to 85% of patients with progressive muscular dystrophy. The principal lesion is a diffuse myocardial fibrosis with minor degenerative changes in myocardial fibres unaccompanied by significant inflammation. The heart is enlarged and has a prominent deposit of epicardial fat. The myocardium is pale, coarse, flabby and friable, often showing gross evidence of scarring. The dilated chambers often contain mural thrombus.     

Pulmonary Alveolar Proteinosis—Review of the Literature with Follow-up Studies and Report of Two New Cases

In the period from 1958, when Rosen and coworkers first reported a condition in which the pulmonary alveoli are filled with an eosinophilic material, to the beginning of 1964, reports of 93 cases had accumulated in the world literature, including two cases included herein. The cause of this disease, which Rosen called “pulmonary alveolar proteinosis,” is not known, nor is there a known means of cure.The usual patient is a white man between 30 and 50 years of age who may do any kind of work. The first symptoms may be those of pulmonary infection or pulmonary insufficiency. Patients with pulmonary alveolar proteinosis are prone to nocardiosis and infection with other fungi. Diagnosis is made by lung biopsy.Twenty of the 93 patients reported upon were alive at the time of this review, 37 were dead and 36 had been lost to follow-up.     

Hematological Complications of Phenylbutazone Therapy: Review of the Literature and Report of Two Cases

Two examples of hematological toxicity following phenylbutazone therapy are described, one of agranulocytosis and one of aplastic anemia. In the first case, prednisolone in a dosage of 20 mg. daily restored neutrophil percentage and the total leukocyte count to normal, but the patient with aplastic anemia, having shown no response to corticosteroid therapy, became dependent on repeated blood transfusion.The English literature on the hematological toxicity of phenylbutazone is reviewed. Ten fatal cases of agranulocytosis have been recorded, as have eight cases of aplastic anemia, of which five proved fatal. Other toxic effects noted have included leukopenia, depression of erythropoiesis, megaloblastic anemia, thrombocytopenia and leukemia.     

Calcium Carbonate Toxicity: The Updated Milk-Alkali Syndrome; Report of 3 Cases and Review of the Literature

ObjectiveTo describe 3 patients with calcium carbonate-induced hypercalcemia and gain insights into the cause and management of the milk-alkali syndrome.MethodsWe report the clinical and laboratory data in 3 patients who presented with severe hypercalcemia (corrected serum calcium ≥ 14 mg/dL) and review the pertinent literature on milk-alkali syndrome.ResultsThe 3 patients had acute renal insufficiency, relative metabolic alkalosis, and low parathyroid hormone (PTH), PTH-related peptide, and 1,25-dihydroxyvitamin D concentrations. No malignant lesion was found. Treatment included aggressive hydration and varied amounts of furosemide. The 2 patients with the higher serum calcium concentrations received pamidronate intravenously (60 and 30 mg, respectively), which caused severe hypocalcemia. Of the 3 patients, 2 were ingesting acceptable doses of elemental calcium (1 g and 2 g daily, respectively) in the form of calcium carbonate. In addition to our highlighted cases, we review the history, classification, pathophysiologic features, and treatment of milk-alkali syndrome and summarize the cases reported from early 1995 to November 2003.ConclusionMilk-alkali syndrome may be a common cause of unexplained hypercalcemia and can be precipitated by small amounts of orally ingested calcium carbonate in susceptible persons. Treatment with hydration, furosemide, and discontination of the calcium and vitamin D source is adequate. Pamidronate treatment is associated with considerable risk for hypocalcemia, even in cases of initially severe hypercalcemia. (Endocr Pract. 2005;11: 272-280)     

膀胱子宫内膜异位症的超声诊断(附三例临床分析及文献复习)

本文通过3例经活检和手术证实的膀胱子宫内膜异位症的超声图像分析,讨论了膀恍子宫内膜异位症的超声诊断价值。 半数以上的膀胱子宫内膜异位症有盆腔手术史。临床表现为月经期伴尿频尿急和尿痛等尿道刺激的症状,抗炎治疗常难奏效,而月经净后症状自行缓解和消退。 超声图见子宫峡部的前壁外缘有不规则的隆起,呈低回声区并向膀胱后壁突起。在月经来潮前和来潮时此隆起包块稍见增大饱满。用丹那唑或三苯氧胺治疗病灶将逐渐缩小。本文比较了膀胱镜检查的优越性及其局限性,认为超声检查可作为首选的检查方法进行早期诊断,尤其对需采取保守治疗的患者,超声检查可作定期随访以观疗效,而不需反复进行膀胱镜检。超声检查此症应与膀胱血管瘤,膀胱癌,息肉和炎症溃疡等鉴别。     

原发性小肠淋巴瘤6例临床分析并文献复习

目的:探讨原发性小肠淋巴瘤临床特点,诊断及治疗方法。方法:对1997-2012年确诊的6例原发性小肠淋巴瘤患者的临床资料进行临床分析,总结其临床特点,同时复习相关文献。结果:隐性失血、脐周隐痛、腹部肿物、隐匿消瘦是原发性小肠淋巴瘤的最常见表现,而以全身症状为主的很少。推进式小肠镜及胶囊内镜的应用对该病诊断有重要价值,但阳性率较低。MSCT和MRE对本病的诊断有重要辅助作用。本组患者病理结果均为非霍奇金淋巴瘤,其中B细胞型4例,T细胞型2例,4例发生淋巴转移。6例患者中4例行手术切除治疗,2例行单纯化疗,2例死亡。结论:选择有效的检查手段,可提高小肠肿瘤的术前诊断,降低其误诊误治的发生率。手术切除是治疗该疾病的主要手段,采用手术后配合化疗及放疗的综合治疗可提高患者的生存率。     

Phocomelia: Report of Three Cases

Three infants were born with phocomelia in Winnipeg during the period from May 1961 to May 1962. In one case thalidomide had been administered to the mother early in the pregnancy. No etiological agent was discovered in the other two, both of whom died. Known teratogenic agents capable of causing phocomelia are reviewed, but no clear association with the two cases described in this report is evident.     

睾丸间质细胞瘤3例报告及文献复习

目的:探讨睾丸间质细胞瘤的临床病理特点及诊疗方法。方法:分析并总结3例睾丸间质细胞瘤患者的临床病理资料并文献复习。结果:1例术中冰冻切片诊断为睾丸间质细胞瘤,2例术前细针穿刺病理诊断为睾丸间质细胞瘤,病理组织学表现为瘤细胞呈团、条索或弥漫分布,体积较大,呈多角形胞质丰富嗜酸性,边界清楚。2例患者行单侧睾丸切除,1例行睾丸肿瘤剜除术,术后分别随访24、15、10个月未见复发。结论:睾丸间质细胞瘤发病率低,临床表现缺乏特异性,易误诊,确诊需依赖病理组织学检查,细针穿刺病理可明确诊断并有助于手术的选择及手术范围的确定。     

睾丸间质细胞瘤3例报告及文献复习

目的：探讨睾丸间质细胞瘤的临床病理特点及诊疗方法。方法：分析并总结3例睾丸间质细胞瘤患者的,J盏床病理资料并文献复习。结果：1例术中冰冻切片诊断为睾丸间质细胞瘤,2例术前细针穿刺病理诊断为睾丸间质细胞瘤,病理组织学表现为瘤细胞呈团、条索或弥漫分布,体积较大,呈多角形胞质丰富嗜酸性,边界清楚。2例患者行单侧睾丸切除,1例行睾丸肿瘤剜除术,术后分别随访24、15、10个月未见复发。结论：睾丸间质细胞瘤发病率低,临床表现缺乏特异性,易误诊,确诊需依赖病理组织学检查,细针穿刺病理可明确诊断并有助于手术的选择及手术范围的确定。     

Pleural Effusion an Unusual Feature of Paracoccidioidomycosis: Report of Two New Cases with a Systematic Review of the Literature

Paracoccidioidomycosis (PCM) is an endemic disease restricted geographically to Latin America. Brazil accounts for about 80 % of the reported cases, and lungs are most frequently affected. A suggestive radiograph of PCM may only be seen late in the course of the disease. At the beginning, it mimics tuberculosis. On the other hand, pleural effusion on rare occasions has been reported in PCM. For this reason, we report two cases with such uncommon manifestation. Our first patient presented pleural effusion probably caused by PCM (a previously unreported cause of lung mass accompanied by effusion); the second with proved pleural effusion due to PCM. A systematic review of the literature was done.     

Agranulocytosis: A Report of 30 Cases

Thirty cases of acute agranulocytosis, as defined by Schultz, were observed between 1946 and 1964 at the Hôtel-Dieu Hospital, Montreal. In 14 cases agents incriminated were: aminopyrine, phenylbutazone, sulfonamides and chlorpromazine. Aminopyrine alone was responsible for eight cases. In the remaining 16 cases no definite etiology was established. Clinical manifestations included fever, prostration, angina and multiple pharyngeal ulcerations; these were associated with severe leukopenia and agranulocytosis. The bone marrow showed hypoplasia, lymphocytosis and maturation arrest. Localized and pulmonary infections, pseudomembranous enterocolitis and septicemia were frequent complications in 21 cases and were usually responsible for death, which occurred in 12 cases. Almost all patients who developed septicemia or pseudomembranous enterocolitis died. The pathogenesis is still not clear, but chlorpromazine and its analogues may act as a metabolic inhibitor, while the aminopyrine group probably operates through an immune mechanism.