难辨认孢子丝菌病临床分析

探讨孢子丝菌病不典型的临床表现.孢子丝菌病是皮肤科常见的一种深部真菌病,典型的皮肤科特征是慢性肉芽肿、溃疡性损害、炎性结节等.而部分孢子丝菌病的患者由于各种各样的原因导致皮损丧失特征性临床表现,给皮肤科医生尤其是临床经验尚不丰富的年轻医师于该病的诊断带来了一定的困难.本文所讨论的8例患者均为就诊于我科门诊并已确诊为孢子丝菌病病例,皮损与典型的孢子丝菌病皮损表现不相符,希望皮肤科医师在以后的临床工作中遇到一些不典型皮损但是综合患者病史、生活环境、诊治过程等情况可考虑到此种疾病,及时给予明确的诊断,使患者能够得到及时、有效的治疗.     

Oral manifestations in chikungunya patients: A systematic review

BackgroundChikungunya fever is considered an abrupt onset arbovirus transmitted by mosquitoes, mainly Aedes aegypti and Aedes albopictus. The disease has a significant impact on the quality of life of affected persons, and many of its numerous symptoms have not yet been properly clarified, such as the manifestations that can occur in the oral cavity. The aim of this study was to identify the main oral manifestations related to chikungunya fever, as well as describe the demographic characteristics of patients, by conducting a systematic review of the literature.Methods and findingsSearches were performed in MEDLINE (PubMed), Embase (Elsevier), LILACS (VHL), Cochrane Library, Scopus, and CAPES electronic databases for theses and dissertations published up to January 16, 2021 without language and date restrictions. Additional manual searches of gray literature, reference list, and Google Scholar were carried out. We included 27 studies highlighting mainly oral manifestations that cause masticatory discomfort such as ulcers and oral thrush, gingival bleeding, pain and burning of the oral mucous membranes, temporomandibular joint (TMJ) arthralgia, opportunistic infections, and changes in taste.ConclusionsThere seems to be a predominance of oral manifestations that cause discomfort when chewing, such as ulcerations in the acute phase of the disease, with complete remission within 3 to 10 days after the onset, apparently mostly affecting women and older persons. These oral manifestations can be compatible with basic viral infections related to inflammatory response and transitory immunosuppression.     

Congenital constriction band syndrome. Pathophysiology and treatment.

The clinical manifestations of 88 children with congenital constriction band syndrome involvement of the hand were reviewed. Seventy-five of these children had evidence of digital or limb amputations, with 235 upper limb amputations and 138 lower limb amputations. In the hand, digital amputations were most common in the index, middle, and ring fingers, whereas in the foot, amputations of the hallux were most often noted. Band indentation was often present at multiple levels. Proximal bands may be associated with neural compression. Syndactyly was invariably associated with a proximal interdigital sinus or cleft and was frequently associated with distal amputation. Examination of a 27-week gestation stillborn specimen having manifestations of congenital constriction band syndrome demonstrated the intrauterine biologic response to band constriction. The variable clinical manifestations of congenital constriction band syndrome can best be explained as the response of the growing, embryologically defined limb to intrauterine deformation or band-induced compression and ischemia.     

PSYCHIATRIC ASPECTS OF PSYCHOMOTOR EPILEPSY

Psychomotor or temporal lobe epilepsy is a frequently missed diagnosis. It is often confused with grand mal and petit mal epilepsy. At times it is the first symptom of an organic neurological disease. It is often masked as a psychiatric disorder or is associated with a mental illness without clinically detectable seizures.These psychic manifestations simulate all of the neuroses and major psychiatric states. Excitement states with amnesia may lead to violent antisocial behavior. All these manifestations may be aggravated by alcohol.Thalamic epilepsy shows itself in similar psychiatric manifestations and accounts for behavior disorder in children more than temporal lobe epilepsy. Atypical seizures with vegetative or emotional aura and a characteristic electroencephalogram differentiate it from temporal lobe epilepsy.Proper understanding of the varied manifestations, with positive electroencephalographic findings, leads to the correct diagnosis in most cases. All patients with unusual or atypical personality or psychiatric-like states should have careful electroencephalographic examination. Anticonvulsant therapy and other psychiatric treatment procedures can relieve most cases. Surgical therapy sometimes is necessary.     

McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestation

BACKGROUND: Testis enlargement in McCune-Albright syndrome (MAS) is generally bilateral and associated with clinical and biochemical manifestations of sexual precocity. CASE REPORT: We describe for the first time an unreported clinical expression of MAS in a 4.6-year-old boy presenting with monolateral testis enlargement and no signs of sexual precocity or other clinical manifestations of MAS at the time of presenting with macroorchidism. Both testosterone and LHRH-stimulated gonadotropin levels were in the prepubertal range. Serum inhibin B was increased to a pubertal level indicating Sertoli cell activation. The histological and immunocytochemical evaluation of the enlarged testis revealed Sertoli cell hyperplasia with no mature Leydig cells. Mutation R201C of GNAS1 gene, classically responsible for MAS, was identified in DNA samples from the right testis biopsy and leukocytes. CONCLUSIONS: (a) MAS should be taken into consideration in the clinicopathological approach to a boy with monolateral macroorchidism; (b) testicular enlargement may be only the presenting clinical manifestation of MAS and is not necessarily linked to manifestations of peripheral precocious puberty; (c) testicular autonomous hyperfunction in MAS may be restricted to Sertoli cells, as also demonstrated previously by others.     

Correlation of serotype-specific dengue virus infection with clinical manifestations

Background

Disease caused by the dengue virus (DENV) is a significant cause of morbidity throughout the world. Although prior research has focused on the association of specific DENV serotypes (DENV-1, DENV-2, DENV-3, and DENV-4) with the development of severe outcomes such as dengue hemorrhagic fever and dengue shock syndrome, relatively little work has correlated other clinical manifestations with a particular DENV serotype. The goal of this study was to estimate and compare the prevalence of non-hemorrhagic clinical manifestations of DENV infection by serotype.

Methodology and Principal Findings

Between the years 2005–2010, individuals with febrile disease from Peru, Bolivia, Ecuador, and Paraguay were enrolled in an outpatient passive surveillance study. Detailed information regarding clinical signs and symptoms, as well as demographic information, was collected. DENV infection was confirmed in patient sera with polyclonal antibodies in a culture-based immunofluorescence assay, and the infecting serotype was determined by serotype-specific monoclonal antibodies. Differences in the prevalence of individual and organ-system manifestations were compared across DENV serotypes. One thousand seven hundred and sixteen individuals were identified as being infected with DENV-1 (39.8%), DENV-2 (4.3%), DENV-3 (41.5%), or DENV-4 (14.4%). When all four DENV serotypes were compared with each other, individuals infected with DENV-3 had a higher prevalence of musculoskeletal and gastrointestinal manifestations, and individuals infected with DENV-4 had a higher prevalence of respiratory and cutaneous manifestations.

Conclusions/Significance

Specific clinical manifestations, as well as groups of clinical manifestations, are often overrepresented by an individual DENV serotype.     

Immunodeficiency and autoimmunity: lessons from systemic lupus erythematosus

Recent evidence suggests that systemic autoimmunity and immunodeficiency are not separate entities, but rather are interconnected processes. Immunodeficiency results from distinct defects of the immune response and primarily presents as infections but also frequently with autoimmune features. Systemic autoimmunity is the combined effect of multiple genetic variations and infectious and immunoregulatory factors that result in dominant autoimmune manifestations, in addition to frequent and opportunistic infections. The overlap in disease manifestations and symptoms suggests that immunodeficiency should be considered in the presence of autoimmunity, and vice versa. In this review, we present the shared or similar aspects of immunodeficiency and autoimmunity using systemic lupus erythematosus as a paradigm and discuss the implications for clinical care.     

Lyme borreliosis (Lyme disease): molecular and cellular pathobiology and prospects for prevention, diagnosis and treatment

Lyme borreliosis is a systemic infection caused by the spirochaete Borrelia burgdorferi, which is transmitted by tick bites and maintained in a delicately balanced ecological cycle. Recent increases in the population densities of tick hosts, the abundance of ticks and the proximity of man to natural tick habitats have led to an escalating worldwide incidence of Lyme borreliosis, and nonspecific clinical manifestations have yielded significant misunderstanding of the disease. After entry, B. burgdorferi activates local inflammation, yet evades host defences and facilitates dissemination by potentially masquerading with host components such as plasmin and complement. The extent of tissue injury is determined by the aggressiveness of host inflammation and immunological reactions, as well as by genetic attributes of the spirochaete. The clinical presentation can be highly varied, including early manifestations that are limited to erythema migrans and ranging to disseminated infection with arthritis, carditis, cranial nerve palsy, peripheral neuropathy, meningitis, or other manifestations. Diagnostic tests have improved, but are unhelpful during certain stages of infection. Therapy varies depending on the degree of involvement, and recovery is usually rapid and complete. Post-treatment clinical manifestations in the absence of evidence for active infection are still poorly understood. The understanding of how B. burgdorferi survives in the environment and interacts with human and mammalian hosts has improved. However, further advances in prevention and therapy depend on continued investigation of the ecological risks and improved understanding of the pathobiology of this obligate bacterial parasite.     

Microcephaly in familial holoprosencephaly

The holoprosencephaly sequence (HS) is characterized by abnormalities in forebrain cleavage and midface development. Familial holoprosencephaly has been reported in several families and there appears to be variable expression of the disorder in those who inherit the gene. Previous investigators have suggested hypotelorism and/or missing central incisors as mild manifestations of autosomal dominant HS. We evaluated a large kindred with three individuals with severe brain anomalies and 12 individuals with minor manifestations of the disorder. The most consistent sign in those mildly affected was microcephaly. We suggest that head circumference is an important part of the evaluation of the relatives of a patient with holoprosencephaly.     

Positive IgG Western blot for Borrelia burgdorferi in Colombia.

In order to evaluate the presence of specific IgG antibodies to Borrelia burgdorferi in patients with clinical manifestations associated with Lyme borreliosis in Cali, Colombia, 20 serum samples from patients with dermatologic signs, one cerebrospinal fluid (CSF) sample from a patient with chronic neurologic and arthritic manifestations, and twelve serum samples from individuals without clinical signs associated with Lyme borreliosis were analyzed by IgG Western blot. The results were interpreted following the recommendations of the Centers for Diseases Control and Prevention (CDC) for IgG Western blots. Four samples fulfilled the CDC criteria: two serum specimens from patients with morphea (localized scleroderma), the CSF from the patient with neurologic and arthritic manifestations, and one of the controls. Interpretation of positive serology for Lyme disease in non-endemic countries must be cautious. However these results suggest that the putative "Lyme-like" disease may correlate with positivity on Western blots, thus raising the possibility that a spirochete genospecies distinct from B. burgdorferi sensu stricto, or a Borrelia species other than B. burgdorferi sensu lato is the causative agent. Future work will focus on a survey of the local tick and rodent population for evidence of spirochete species that could be incriminated as the etiologic agent.     

Ultrasonographic and radiographic diagnosis of breast nodules in young women]

Mammography as a priority method of diagnosis of breast nodules in young women is of low efficacy as a result of a dense background of the breast as distinct from echography permitting the detection of abnormal lesion against this background. Altogether 126 patients with clinical manifestations of breast nodules were investigated. Apparatus methods used for investigation of 38 of them, revealed but manifestations of fibrocystic mastopathy. Assessment of the efficacy of x-ray and ultrasound diagnostic methods was performed in 88 patients with breast nodules (the patients varied in age from 14 to 40). Radiodiagnostic accuracy in benign tumors was 54.1%, that in malignant tumors--78.1%. Ultrasound investigation proved to be the most informative method for diagnosis of breast nodules in young women, and the use of a proposed algorithm would permit optimization of the diagnostic process.     

Urinary Guanidinoacetate and Creatine Levels in Patients with HPRT Deficiency

Neurobehavioral manifestations of complete HPRT deficiency include severe action dystonia, choreathetosis, alteration of executive functions, and self-injurious behavior. Dystonic manifestations are also present in patients with partial HPRT deficiency. Pathophysiology of these manifestations is unknown. Guanidinoacetate is a neurotoxin implicated in certain dystonic syndromes. We have examined guanidinoacetate and creatine levels in urine from 11 HPRT deficient patients (9 with Lesch-Nyhan syndrome and 2 with partial deficiency). Urinary guanidinoacetate and creatine levels in HPRT deficient patients were within the normal range. Guanidinoactetate alteration does not seem to be implicated in the pathogenesis of the neurological disease associated with HPRT deficiency.     

Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency

Neurobehavioral manifestations of complete HPRT deficiency include severe action dystonia, choreathetosis, alteration of executive functions, and self-injurious behavior. Dystonic manifestations are also present in patients with partial HPRT deficiency. Pathophysiology of these manifestations is unknown. Guanidinoacetate is a neurotoxin implicated in certain dystonic syndromes. We have examined guanidinoacetate and creatine levels in urine from 11 HPRT deficient patients (9 with Lesch-Nyhan syndrome and 2 with partial deficiency). Urinary guanidinoacetate and creatine levels in HPRT deficient patients were within the normal range. Guanidinoactetate alteration does not seem to be implicated in the pathogenesis of the neurological disease associated with HPRT deficiency.     

Screening of an endothelial cDNA library identifies the C-terminal region of Nedd5 as a novel autoantigen in systemic lupus erythematosus with psychiatric manifestations

Anti-endothelial-cell antibodies are associated with psychiatric manifestations in systemic lupus erythematosus (SLE). Our primary aim in this study was to seek and characterize molecules that behave as endothelial autoantigens in SLE patients with psychiatric manifestations. By screening a cDNA library from human umbilical artery endothelial cells with serum from an SLE patient with psychosis, we identified one positive strongly reactive clone encoding the C-terminal region (C-ter) of Nedd5, an intracytoplasmatic protein of the septin family. To evaluate anti-Nedd5 serum immunoreactivity, we analyzed by ELISA specific IgG responses in 17 patients with SLE and psychiatric manifestations (group A), 34 patients with SLE without psychiatric manifestations (group B), 20 patients with systemic sclerosis, 20 patients with infectious mononucleosis, and 35 healthy subjects. IgG specific to Nedd5 C-ter was present in 14 (27%) of the 51 SLE patients. The mean optical density value for IgG immunoreactivity to Nedd5 C-ter was significantly higher in patients of group A than in those of group B, those with infectious mononucleosis, or healthy subjects (0.17 +/- 0.14 vs, respectively, 0.11 +/- 0.07, P = 0.04; 0.11 +/- 0.06, P = 0.034; and 0.09 +/- 0.045, P = 0.003, on Student's t-test). Moreover, IgG immunoreactivity to Nedd5 C-ter was significantly higher in patients with systemic sclerosis than in patients of group B or healthy subjects (0.18 +/- 0.18 vs, respectively, 0.11 +/- 0.07, P = 0.046; and 0.09 +/- 0.045, P = 0.003). The percentage of patients with anti-Nedd5 C-ter serum IgG was higher in group A than in group B (8 (47%) of 17, vs 6 (17%) of 34, P = 0.045, on Fisher's exact test). In order to clarify a possible mechanism by which Nedd5 might be autoantigenic, we observed that Nedd5 relocated from cytoplasm to the plasma membrane of EAhy926 endothelial cells after apoptotic stimuli. In conclusion, Nedd5 is a novel autoantigen of potential clinical importance that could be successfully used for a more thorough investigation of the pathogenesis of psychiatric manifestations in SLE. Although anti-Nedd5 autoantibodies are not specific to SLE, they are significantly associated with neuropsychiatric SLE and may represent immunological markers of psychiatric manifestations in this pathology.     

肥大细胞增生症研究进展

肥大细胞增生症(mastocytosis)是由多种临床表现组成的一组疾病谱,其特征表现以肥大细胞在一个或多个器官异常浸润和积聚为主,常累及皮肤、消化道、骨髓、肝脾以及淋巴结,临床表现为皮肤瘙痒、潮红、恶心、呕吐、腹泻、腹痛等改变。针对存在以下情况需考虑本病:不明原因的溃疡或吸收不良;影像学检查发现骨骼扫描异常、肝脾肿大、淋巴结肿大;外周血异常;速发型过敏反应;或原因不明的低血压;一旦确定为肥大细胞增生症引起,应对疾病活动性、亚型和预后进行评估,并进行适当治疗;肥大细胞增多症根据临床表现、病理改变和预后分为7种不同类型,皮肤性及惰性系统性肥大细胞增多症预后较好,肥大细胞肉瘤预后最差。本文对肥大细胞增生症发病机制、临床特征、诊断、治疗及预后等方面的研究现状进行综述。     

Nonradiographic axial spondyloarthritis: clinical and therapeutic relevance

Current classification criteria for axial spondyloarthritis (axSpA) provide for the inclusion of patients with a wide range of presentations and manifestations. While not considered a formal subclassification, patients are often divided into radiographic or nonradiographic axSpA based on the presence or absence of radiographic sacroiliitis. This review will focus on nonradiographic axSpA and will discuss clinical manifestations of disease that distinguish, or in many cases do not distinguish, this entity from other individuals with axSpA. This review will also cover treatment paradigms for nonradiographic axSpA, particularly the use of biologic therapies, where current data suggest that nonradiographic disease should be managed largely the same as radiographic disease, or classical ankylosing spondylitis.     

多系统萎缩的早期综合诊断

目的:探讨多系统萎缩(multiple system atrophy,MSA)患者的临床表现及神经影像学新特征(脑桥"十字征"和"壳核裂隙征")在MSA早期诊断中的临床意义。方法:回顾性分析21例临床诊断为多系统萎缩(MSA)患者的临床表现和头部MRI资料。结果:21例MSA患者中,Shy-Drager综合征(MSA-A)9例,早期临床表现为体位性低血压,泌尿生殖功能障碍,头部MRI检查脑桥"壳核裂隙征"和"十字征"为Ⅰ期;橄榄体脑桥小脑萎缩(MSA-C)5例,3例发病后1年头部MRI脑桥"十字征"达Ⅱ期;"壳核裂隙征"为Ⅰ期,2例发病后3年头部MRI脑桥"十字征"达Ⅳ期。黑质纹状体变性(MSA-P)7例:早期临床均有运动迟缓、震颤等表现,3例发病后1年脑桥"十字征"Ⅰ期,"壳核裂隙征"Ⅲ期;3例发病后2年脑桥"十字征"Ⅰ期,"壳核裂隙征"Ⅰ期;另1例发病后9月脑桥"十字征"Ⅰ期",壳核裂隙征"Ⅱ期。结论:认为临床表现与头部MRI检查显示的新的影像学特征结合有助于MSA早期诊断。     

Chyluria with proteinuria or filarial nephropathy? An enigma

Lymphatic filariasis is endemic in India. Out of 128 million infected individuals worldwide, India accounts for 48 million cases [Manson's Tropical Diseases, 21st Ed. p 1488]. Filariasis can have protean manifestations, but Tropical pulmonary eosinophilia and chyluria are unusual manifestations reported mainly from South Asian countries [Manson's Tropical Diseases, 21st Ed. p 1494]. Chyluria occurs only in 2% of filarial afflicted patients in the filarial belt [Diamond E, Schapira HE. Chyluria--a review of literature. Urology 1985;26(5): 427-31]. Lymphatic filariasis presenting as chyluria may be equally rare. Predominant chyluria with no overt lymphatic filariasis remains an enigma.     

皮肤型孢子丝菌病316例临床分析

目的探讨孢子丝菌病的临床特征及病理特点,指导临床实践。方法分析1972～2007年间就诊于我院的孢子丝菌病447例,其中有详细资料者316例,做皮肤组织病理检查的203例中,105例做了PAS染色检查。结果春季发病者占50．34％,临床分型以固定型略多（52．53％）。儿童主要以面部发病。主要病理改变为混合细胞性肉芽肿。PAS染色阳性率为38．1％。结论孢子丝菌病常年皆可发病,近几年有增多的趋势,春季为本病高发季节。儿童皮损主要在面部,多为固定型。病理改变多为混合细胞性肉芽肿。病理切片、PAS染色诊断阳性率不高,确诊主要靠真菌培养。