The XXXXY Chromosome Anomaly: Report of Three New Cases and Review of 30 Cases from the Literature

The majority of abnormal sex chromosome complexes in the male have been considered to be variants of Klinefelter''s syndrome but an exception should probably be made in the case of the XXXXY individual who has distinctive phenotypic features. Clinical, radiological and cytological data on three new cases of XXXXY syndrome are presented and 30 cases from the literature are reviewed. In many cases the published clinical and radiological data were supplemented and re-evaluated. Mental retardation, usually severe, was present in all cases. Typical facies was observed in many; clinodactyly of the fifth finger was seen in nearly all.Radiological examination revealed abnormalities in the elbows and wrists in all the 19 personally evaluated cases, and other skeletal anomalies were very frequent. Cryptorchism is very common and absence of Leydig''s cells may differentiate the XXXXY chromosome anomaly from polysomic variants of Klinefelter''s syndrome. The relationship of this syndrome to Klinefelter''s syndrome and to Down''s syndrome is discussed.     

Dermatophytosis in Military in the Central-West Region of Brazil: Literature Review

Background

Dermatophytes represent a group of keratinophilic fungi capable of invading the superficial layer of the skin, hair, and nails of humans and animals. There is a high prevalence of dermatomycosis in tropical regions, and military personnel are susceptible to this kind of infection due to the type of occupational activities.

Objective

This study was to investigate dermatophytosis in military, in addition to predisposing factors to such infections.

Methods

The direct examination of the 221 samples obtained was conducted by preparing fresh slides, clarified with KOH. The clinical materials were seeded in duplicate in SDA and in Mycosel agar medium. The identification of the etiologic agents was performed according to the Riddell technique.

Results

99/221 (44.8 %) of the dermatophyte infection agents distributed in the three taxonomic genera that cause Tinea were recovered. The Trichophyton genus was the most representative and T. rubrum species 33 (33.3 %), the most prevalent. The other species found were as follows: T. tonsurans 13 (13.1 %), T. verrucosum 11 (11.1 %), T. interdigitale 9 (9.1 %), and T. mentagrophytes 6 (6.1 %). Among the most affected anatomical sites were skin 83 (83.8 %) and nails 17 (17.2 %).

Conclusions

Dermatophyte infections are common disorders in tropical countries. These infections lead to a variety of clinical manifestations. This study reports the incidence of dermatophytosis in the military personnel in the Central-West Region of Brazil. The occupational activities of the military individuals, in addition to the hot and humid climate of the region, can predispose them to infection by these fungal entities.     

Wegener's Granulomatosis: A Review of Three Cases

Clinical and autopsy features in three cases of Wegener''s granulomatosis are presented. The disease is characterized by the triad of necrotizing granulomatous lesions of the respiratory tract, segmental necrotizing angiitis of arteries and veins, and necrotizing glomerulitis commonly terminating in uremia. Correct antemortem diagnosis was made in two of the three cases-in one by recognition of the characteristic triad and in the other by a biopsy from the antrum. Pathological lesions were chiefly in respiratory tract, spleen, kidneys and blood vessels. Necrotizing granulomatous lesions were present in the lungs. Glomerular lesions were particularly severe and wide-spread in two of the three patients, leading to uremia. Trabeculitis of the spleen, an unusual lesion, was a noticeable feature in all three. Fibrinoid necrosis, with little or no inflammatory infiltration, was the prevailing type of vascular necrosis. The characteristics of the disease process suggest a hypersensitivity mechanism. Similarities to, but significant differences from, polyarteritis nodosa are recognized.     

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.     

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。     

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。     

Misspecifications of Stimulus Presentation Durations in Experimental Psychology: A Systematic Review of the Psychophysics Literature

Background

In visual psychophysics, precise display timing, particularly for brief stimulus presentations, is often required. The aim of this study was to systematically review the commonly applied methods for the computation of stimulus durations in psychophysical experiments and to contrast them with the true luminance signals of stimuli on computer displays.

Methodology/Principal Findings

In a first step, we systematically scanned the citation index Web of Science for studies with experiments with stimulus presentations for brief durations. Articles which appeared between 2003 and 2009 in three different journals were taken into account if they contained experiments with stimuli presented for less than 50 milliseconds. The 79 articles that matched these criteria were reviewed for their method of calculating stimulus durations. For those 75 studies where the method was either given or could be inferred, stimulus durations were calculated by the sum of frames (SOF) method. In a second step, we describe the luminance signal properties of the two monitor technologies which were used in the reviewed studies, namely cathode ray tube (CRT) and liquid crystal display (LCD) monitors. We show that SOF is inappropriate for brief stimulus presentations on both of these technologies. In extreme cases, SOF specifications and true stimulus durations are even unrelated. Furthermore, the luminance signals of the two monitor technologies are so fundamentally different that the duration of briefly presented stimuli cannot be calculated by a single method for both technologies. Statistics over stimulus durations given in the reviewed studies are discussed with respect to different duration calculation methods.

Conclusions/Significance

The SOF method for duration specification which was clearly dominating in the reviewed studies leads to serious misspecifications particularly for brief stimulus presentations. We strongly discourage its use for brief stimulus presentations on CRT and LCD monitors.     

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.     

Use of Voriconazole for the Treatment of Paecilomyces lilacinus Cutaneous Infections: Case Presentation and Review of Published Literature

The fungus Paecilomyces lilacinus is a rare but emerging pathogen that causes severe human infections, especially in immunocompromised hosts. It is an important organism to identify due to its poor susceptibility to conventional antifungal drugs, including amphotericin B, itraconazole, and fluconazole. Oculomycosis and cutaneous infections are the two most common manifestations of P. lilacinus infections. Voriconazole has been used successfully to treat P. lilacinus endophthalmitis, but reports of skin and soft tissue infections treated with voriconazole are limited to six prior publications. Our immunocompromised patient had a subcutaneous P. lilacinus infection successfully treated with 3 months of voriconazole therapy.     

Cerebrovascular Diseases in West Central India

Cerebral angiographic findings in ischaemic stroke are described and discussed in detail. Though the Indian patients studied had altogether different social customs, living standards, and dietary habits from Western people, the relative incidence of various cerebral vascular lesions did not differ significantly. Irrespective of the poor nutritional status of the patients, thrombosis associated with atherosclerosis was chiefly responsible for a non-embolic cerebral infarction. Atherothrombosis in the young normotensive persons not showing any evidence of arteritis, diabetes mellitus, or hypercholesterolaemia was also identified.The grave risks involved in cerebral angiography in cases of acute stroke are re-emphasized.As to prognosis, the nutritional status, the type and territory of an ictal lesion, and the blood levels of sugar and cholesterol had no significant influence on the immediate survival-after a non-embolic cerebral infarction. However, a significantly greater number of deaths were encountered in the hypertensive patients. Female patients and patients with a large cerebral infarction had a poor prognosis.     

以急性心肌梗死为首发表现的肾病综合征1例及文献复习

目的:肾病综合征患者,较少出现并发动脉血栓,尤其少以动脉栓塞作为首发表现,结合汇报我院1例以急性心肌梗死为首发表现的肾病综合征患者的诊疗过程,探讨此类病人的诊治方法及预防措施.方法:报告中国人民解放军北京军区总医院1例以急性心肌梗死为首发表现的肾病综合征病例,汇报其临床资料、诊疗过程等并复习相关文献,对其临床表现、诊断、治疗及预后进行分析,并总结治疗经验,提出防治措施.结果:1例以急性心肌梗死为首发表现的肾病综合征患者经治疗病情好转后出院,出院后继续肾病综合征治疗,目前患者恢复良好.结论:肾病综合征患者,因为自身存在高凝状态,其引起静脉血栓较为常见,而引发动脉栓塞并不多见,以冠脉栓塞并为首发表现尤为少见,极易误诊或漏诊,在临床工作中应该引起足够重视.     

Rubinstein-Taybi Syndrome: Broad Thumbs and Great Toes,Facial Abnormalities and Mental Retardation: A Presentation of Three Cases

In 1963 Rubinstein and Taybi described, in seven children, a new symptom-complex characterized by broad thumbs and great toes, facial abnormalities, mental retardation and a cluster of congenital malformations. Since then 14 additional cases have been reported. In this paper three more such children are described. Chromosome studies were normal. The etiology of this disorder is unknown but it is probably genetic.