RESUMO
AIMS: We developed a new rapid and reliable method for identifying bacteria using a combination of Fourier transform infrared (FT-IR) spectroscopy of bacterial genomic DNA and multivariate analysis. METHODS AND RESULTS: FT-IR spectra of genomic DNA from four type strains of Pseudomonas spp., three type strains of Escherichia spp. and two type strains of Bacillus spp. were analysed in the 4000-400 cm-1 region. Spectral differences were found in the frequency regions of N-H stretching (amide I), C=O stretching vibrations (amide II) and PO2 - ionized asymmetric and symmetric stretching. Partial least squares discriminant analysis of the FT-IR spectra showed that the microbial strains could be discriminated by hierarchical clustering analysis. CONCLUSIONS: FT-IR spectral analysis of bacterial genomic DNA has potential for the rapid identification of bacteria at the genus and species levels. SIGNIFICANCE AND IMPACT OF THE STUDY: This study reports a new bacterial identification method using multivariate analysis of FT-IR spectra of bacterial genomic DNA.
Assuntos
Bactérias , Técnicas de Tipagem Bacteriana/métodos , DNA Bacteriano , Espectroscopia de Infravermelho com Transformada de Fourier/métodos , Bactérias/classificação , Bactérias/genética , DNA Bacteriano/análise , DNA Bacteriano/química , DNA Bacteriano/genéticaRESUMO
Bretherton et al. (2004) used the Special Sensor Microwave Imager (SSM/I) version 5 product to derive an exponential curve that describes the relationship between precipitation and column relative humidity (CRH) over the tropical oceans. The curve, which features a precipitation pickup at a CRH of about 0.75 and a rapid increase of precipitation with CRH after the pickup, has been widely used in the studies of the tropical atmosphere. This study re-examines the moisture-precipitation relationship by using the version 7 SSM/I data, in which several biases in the previous version are corrected, and evaluates the relationship in the Coupled Model Intercomparison Project phase 5 (CMIP5) models. In the revised exponential curve derived using the updated satellite data, the precipitation pick-up occurs at a higher CRH (~0.8), and precipitation increases more slowly with CRH than in the previous curve. In most CMIP5 models, the precipitation pickup is too early due to the common model bias of overestimated (underestimated) precipitation in the dry (wet) regime.
Assuntos
Leucemia/diagnóstico , Leucemia/genética , Translocação Genética , Doença Aguda , Adolescente , Adulto , Criança , Pré-Escolar , Análise Citogenética , Feminino , Humanos , Lactente , Leucemia/mortalidade , Leucemia/patologia , Masculino , Prognóstico , Estudos Retrospectivos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Análise de SobrevidaAssuntos
Plaquetas/efeitos dos fármacos , Stents Farmacológicos , Agregação Plaquetária/efeitos dos fármacos , Tetrazóis/farmacologia , Ticlopidina/análogos & derivados , Cilostazol , Clopidogrel , Sinergismo Farmacológico , Humanos , Testes de Função Plaquetária , Estudos Prospectivos , Receptores Purinérgicos P2Y12/metabolismo , Ticlopidina/uso terapêutico , Fatores de Tempo , Resultado do TratamentoRESUMO
OBJECTIVE: To determine the causes of acute abdominal pain in systemic lupus erythematosus (SLE) and to compare the clinical and laboratory data, especially antiphospholipid antibodies and the SLE Disease Activity Index (SLEDAI), between lupus enteritis (gastrointestinal vasculitis) and acute abdominal pain without lupus enteritis in patients with SLE. METHODS: A retrospective study was carried out for all patients admitted with SLE from 1993 to March 2001. The SLEDAI and laboratory data were collected at the time of diagnosis of SLE and at the time of acute abdominal pain. Lupus enteritis (gastrointestinal vasculitis) was diagnosed by clinical investigation and abdominal computed tomographic findings. RESULTS: Chart review identified 175 patients (20 male, 155 female) who had been admitted with SLE. Of these patients, 38 (22%) presented with acute abdominal pain. Lupus enteritis was the most common cause of acute abdominal pain. Patients were divided into three groups: group 1: lupus enteritis (n=17), group 2: acute abdominal pain without lupus enteritis (n=21), and group 3: SLE without acute abdominal pain (n=137). There was no difference in age and sex among the three groups. Antiphospholipid, anti-RNP, anti-Sm, anti-Ro, and anti-La antibodies did not differ among the three groups. There was no difference in the SLEDAI at the time of diagnosis and at the time of acute abdominal pain between groups 1 and 2. Complement, erythrocyte sedimentation rate, C reactive protein, and anti-dsDNA measured at the time of acute abdominal pain did not differ between groups 1 and 2. A drop in the white blood cell count at the time of abdominal pain was more prominent in group 1 than group 2. In lupus enteritis, the jejunum and ileum were the sites most commonly affected. Rectal involvement was rare. Even though four patients relapsed, all the patients with lupus enteritis, including those who relapsed, responded well to corticosteroid. CONCLUSION: Lupus enteritis is the most common cause of acute abdominal pain in SLE. All patients with lupus enteritis responded well to a high dose of a corticosteroid without surgical intervention. The SLEDAI and laboratory data, except leucopenia, do not correlate with the occurrence of lupus enteritis.
Assuntos
Dor Abdominal/etiologia , Enterite/complicações , Lúpus Eritematoso Sistêmico/complicações , Dor Abdominal/imunologia , Doença Aguda , Adulto , Anticorpos Antifosfolipídeos/análise , Enterite/imunologia , Feminino , Humanos , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Estudos RetrospectivosRESUMO
Retroperitoneal fibrosis is a rare disease characterized by the formation of dense plaque of fibrous tissue covering the retroperitoneal structures. This disease is commonly presented as ureteral obstruction, but the involvement of duodenum is rare. We report a case of retroperitoneal fibrosis which was complicated with duodenal stenosis and was successfully treated with corticosteroids. A 58-yr-old man, who had history of aorto-iliac bypass graft due to arteriosclerosis obliterans with infrarenal aortic occlusion was admitted to the hospital with abdominal pain and a mass. Abdominal CT scan revealed the periaortic soft tissue mass encircling grafted aorta and stenosis of duodenal third portion. Retroperitoneal fibrosis with duodenal stenosis was diagnosed and prednisolone therapy was initiated. Follow-up CT scan showed that the patient responded to prednisolone therapy with eased pain, shrinking periaortic mass, and reduced duodenal stenosis.
Assuntos
Obstrução Duodenal/complicações , Fibrose Retroperitoneal/complicações , Anti-Inflamatórios/uso terapêutico , Obstrução Duodenal/diagnóstico por imagem , Obstrução Duodenal/tratamento farmacológico , Obstrução Duodenal/fisiopatologia , Glucocorticoides/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Prednisolona/uso terapêutico , Fibrose Retroperitoneal/diagnóstico por imagem , Fibrose Retroperitoneal/tratamento farmacológico , Fibrose Retroperitoneal/fisiopatologia , Tomografia Computadorizada por Raios X/métodos , Resultado do TratamentoRESUMO
We report the first case in the English literature of an intramural duodenal hematoma presenting as a complication of Helicobacter pylori-induced peptic ulcer disease. Intramural duodenal hematomas have been previously described in patients-usually in the setting of blunt trauma, postendoscopic biopsy, gastrostomy placement, and hemostatic therapy and in patients with a coagulopathy or bleeding diathesis-but not as a presentation of peptic ulcer disease. It is important to recognize this complication, as surgical management may benefit patients with a duodenal hematoma.
Assuntos
Duodenopatias/etiologia , Infecções por Helicobacter/complicações , Helicobacter pylori , Hematoma/etiologia , Úlcera Péptica Hemorrágica/etiologia , Úlcera Péptica/complicações , Biópsia , Diagnóstico Diferencial , Duodenopatias/patologia , Duodeno/patologia , Mucosa Gástrica/patologia , Obstrução da Saída Gástrica/etiologia , Obstrução da Saída Gástrica/patologia , Infecções por Helicobacter/patologia , Hematoma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Úlcera Péptica/patologia , Úlcera Péptica Hemorrágica/patologiaRESUMO
The recurrence of focal segmental glomerulosclerosis (FSGS) in transplants is a well-known problem in pediatric renal transplantation (Tx). Recently, the race of the recipient was recognized as a major variable associated with disease recurrence. In view of this finding, we report on our single-center experience of FSGS recurrence in Korean children, an ethnically homogeneous Far East Asian population. Clinical records and renal biopsy specimens, both native and graft, were reviewed for all pediatric renal Txs (recipient age < or = 18 yr) performed at Seoul National University Hospital from 1984 to 1999. Twenty-two children with primary FSGS received 22 allografts for renal replacement. The mean age of disease onset in these patients was 5.9 yr. The grafts were from 12 living-related, six living-unrelated, and four cadaveric donors, and all recipients were immunosuppressed with cyclosporin A (CsA)-based regimens. Post-transplant recurrence of FSGS was confirmed in nine patients (41%). Long-term graft survival in recurrent and non-recurrent groups was not significantly different. Risk factor analysis showed that patients with a disease duration shorter than 48 months (odds ratio 11.7, 95% CI 1.53-89.1) and a glomerulosclerosis percentage of < 55% by renal biopsy (odds ratio 16.0, 95% CI 1.45-176) were at greater risk of disease recurrence. These results suggest that Korean children are similar to non-African-American youngsters in the USA and Europe with respect to post-transplant recurrence of FSGS. The same may be true of other Far Eastern Asian children.
Assuntos
Povo Asiático , Glomerulosclerose Segmentar e Focal/etnologia , Transplante de Rim/efeitos adversos , Criança , Pré-Escolar , Feminino , Glomerulosclerose Segmentar e Focal/etiologia , Glomerulosclerose Segmentar e Focal/cirurgia , Sobrevivência de Enxerto , Humanos , Lactente , Coreia (Geográfico) , Masculino , Recidiva , Fatores de RiscoRESUMO
Most T-cell lymphomas arise from mature alpabeta T-cells and commonly involve the nodes. Lymphomas bearing the gamadelta T-cell receptor (TCR) are very rare, and involve the lymph nodes minimally, if at all. Hepatosplenic gamadelta T-cell lymphoma is a recently identified, rare entity in which lymphoma cells bearing the gamadelta TCR infiltrate the sinusoids of the liver, splenic red pulp, and bone marrow. Its leukemic transformation is even more rare. Recently, we experienced a case of hepatosplenic gamadelta T-cell lymphoma in a 19-year-old woman who presented with epigastric pain, fever, massive splenomegaly, andpancytopenia. The splenectomy specimen and excisional biopsy of the liver revealed the infiltration of atypical T lymphocytes with the immunophenotypic markers of CD3 (+), CD45RO (pan-T antigen) (+), TIA-1(+), CD4(-),CD8 (-), CD56 (-), and S100 (-) in the sinusoids of the liver and splenic red pulp. Polymerase chain reaction (PCR) showed that these cells had the expression of the TCR gama gene rearrangements. Though the pancytopenia had improved after the splenectomy, the response of chemotherapy was transient. Her disease progressed rapidly and she expired in the leukemic phase. We report a case of hepatosplenic gamadelta T-cell lymphoma that developed in a young woman, along with a brief review of the literature.
Assuntos
Transplante de Rim/estatística & dados numéricos , Neoplasias/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Seguimentos , Sobrevivência de Enxerto , Humanos , Incidência , Transplante de Rim/mortalidade , Transplante de Rim/fisiologia , Coreia (Geográfico) , Neoplasias/classificação , Neoplasias/mortalidade , Estudos Retrospectivos , Taxa de Sobrevida , Fatores de TempoRESUMO
BACKGROUND/METHODS: To investigate the prevalence and clinical significance of hepatitis C virus (HCV) infection and its relationship with the development of hepatocellular carcinoma (HCC), 162 consecutive alcoholic patients with cirrhosis were studied. Alcohol intake and parenteral risk factors were investigated by interview using a questionnaire. All patients had consumed at least 80 g alcohol/day for at least the past 5 years. Sera were tested for anti-HCV using a third-generation enzyme immunoassay (EIA), hepatitis B s antigen (HBsAg), anti-HBs, anti-HBc and anti-HIV. Serum HCV-RNA was detected by a one-tube reverse transcription-polymerase chain reaction (RT-PCR) method. Patients were classified into three groups accroding to the presence or absence of viral markers: (i) cases without anti-HCV or HBsAg (group A); (ii) cases with HBsAg only (group B); and (iii) cases with anti-HCV only (group C). Demographic and clinical findings were compared among the three groups. RESULTS: Anti-HCV was present in 17 cases (10.5%) and HBsAg was present in 47 cases (29%). No patient had both anti-HCV and HBsAg. Group C subjects were the oldest, but the duration of drinking in this group was similar to that of group A. There was no significant difference in the daily alcohol intake among the three groups. Previous surgical operations and tattooing were more frequent in group C. Only one patient in group C was an intravenous drug user. The combined rate of HCC was significantly higher in groups B and C than in groups A (34, 23.5 and 6.1%, respectively). Laboratory data showed a higher platelet count, higher albumin level, lower bilirubin level and lower aspartate aminotransferase/alanine aminotransferase ratio in group C patients than in the other two groups. Hepatitis C virus RNA was detected in 14 of 85 cases tested (16.5%), in 11 of 12 cases (91.7%) with anti-HCV and in three of 73 cases (4.1%) without anti-HCV. CONCLUSIONS: Hepatitis C virus infection is frequent in alcoholic patients with cirrhosis in Korea. Hepatitis C virus, as well as hepatitis B virus, infection may have a synergistic effect on the development of HCC in alcoholic patients.
Assuntos
Carcinoma Hepatocelular/complicações , Hepatite C/complicações , Cirrose Hepática Alcoólica/complicações , Neoplasias Hepáticas/complicações , Adulto , Idoso , Carcinoma Hepatocelular/epidemiologia , Carcinoma Hepatocelular/virologia , Feminino , Hepacivirus/genética , Hepacivirus/imunologia , Anticorpos Anti-Hepatite/sangue , Hepatite B/complicações , Hepatite B/diagnóstico , Hepatite B/epidemiologia , Hepatite C/diagnóstico , Hepatite C/epidemiologia , Humanos , Coreia (Geográfico)/epidemiologia , Cirrose Hepática Alcoólica/epidemiologia , Cirrose Hepática Alcoólica/virologia , Neoplasias Hepáticas/epidemiologia , Neoplasias Hepáticas/virologia , Masculino , Pessoa de Meia-Idade , Prevalência , RNA Viral/sangueRESUMO
Nitric oxide (NO) is produced by NO synthases (nNOS, iNOS, and eNOS) expressed in various human tissues and depending on the amount of NO produced in each tissue, the physiological function of NO is determined. However, due to the difficulty in obtaining normal human tissues, little is known about the basal levels of each of the three NOS mRNAsand proteins expressed constitutively in various human tissues. Results of the present study indicate that the basal levels of each of the three NOS mRNAs and proteins expressed in various regions of brain and peripheral tissues are different both in their sizes and in their contents. In Northern blot analysis, two different-sized mRNAs were found for each NOS isozymes: for the nNOS, approximately 12 and <12 kb mRNAs; for the iNOS, 4.2 and 4.5 kb mRNAs; for the eNOS, 4.2 and 4.4 kb mRNAs. In the Western blot, several different-sized NOS proteins were detected ( approximately 160, approximately 140, and approximately 130 kDa for nNOS; approximately 130 kDa for iNOS and eNOS) with tissue-specific expression patterns. These differential expression patterns of NOS mRNAs and proteins were caused by alternative splicing in the open-reading frame, and 5'- and/or 3'-untranslated regions of NOS mRNAs. These results suggest that regulation for differential expression of the three NOS genes in various human tissues may occur by alternative splicing of the NOS mRNAs in tissue-specific patterns.
Assuntos
Perfilação da Expressão Gênica , Regulação Enzimológica da Expressão Gênica , Óxido Nítrico Sintase/genética , Óxido Nítrico Sintase/metabolismo , Regiões 3' não Traduzidas/genética , Regiões 5' não Traduzidas/genética , Processamento Alternativo/genética , Western Blotting , Encéfalo/anatomia & histologia , Encéfalo/embriologia , Encéfalo/enzimologia , Células Cultivadas , Condrócitos/metabolismo , Humanos , Isoenzimas/química , Isoenzimas/genética , Isoenzimas/metabolismo , Fígado/enzimologia , Pulmão/embriologia , Pulmão/enzimologia , Peso Molecular , Óxido Nítrico Sintase/química , Óxido Nítrico Sintase Tipo I , Óxido Nítrico Sintase Tipo II , Óxido Nítrico Sintase Tipo III , Fases de Leitura Aberta/genética , RNA Mensageiro/análise , RNA Mensageiro/genética , Baço/enzimologiaRESUMO
The objective of this study was to determine whether brow elevation occurs as a result of paralysis of brow depressors after botulinum toxin A injection. The study's design was a prospective case series with pretreatment and posttreatment outcome evaluation with statistical analysis at a university-based division of facial plastic surgery private clinic. Twenty-two patients of a consecutive sample desiring a cosmetic enhancement underwent injection of botulinum toxin A directed to brow depressors. Injections consisted of 7 to 10 units of botulinum toxin A (Botox, Allergan, Irvine, Calif.) into selected brow depressor muscle (lateral orbicularis oculi) bilaterally. No patients withdrew for adverse effects. All patients were evaluated 2 weeks after treatment. The outcomes were measured by change in brow elevation along vertical axis extending from both midpupil and lateral canthus to the caudal row of brow hairs with eyes at neutral gaze and the head at Frankfort plane. Preintervention and postintervention brow height was measured by the primary clinical investigator. The average brow elevation from the midpupil observed after selected injection of brow depressors with botulinum toxin A was 1.02 mm (p = 0.038). The average brow elevation from the lateral canthus observed after selected injection of brow depressors with botulinum toxin A was 4.83 mm (p<0.0001). Significant temporal brow elevation occurs as the result of paralysis of brow depressors by using botulinum toxin A injection. This procedure may be considered an alternative to surgical brow elevation.
Assuntos
Toxinas Botulínicas/administração & dosagem , Ritidoplastia/métodos , Blefaroplastia , Feminino , Humanos , Injeções , Masculino , Órbita , Estudos ProspectivosRESUMO
The deep nasolabial fold and other facial furrows and wrinkles have challenged the facial plastic surgeon. A variety of techniques have been used in the past to correct these troublesome defects. Advances in the last five years in new materials and design have created a subcutaneous implant that has excellent properties. This article reviews the development and use of Softform facial implant.
Assuntos
Materiais Biocompatíveis , Politetrafluoretileno , Ritidoplastia , Materiais Biocompatíveis/química , Materiais Biocompatíveis/história , Procedimentos Cirúrgicos Dermatológicos , História do Século XX , Humanos , Injeções Subcutâneas , Lábio/cirurgia , Nariz/cirurgia , Politetrafluoretileno/química , Politetrafluoretileno/história , Ritidoplastia/efeitos adversos , Ritidoplastia/história , Ritidoplastia/métodos , Ritidoplastia/tendências , Envelhecimento da Pele , Propriedades de SuperfícieRESUMO
BACKGROUND: The most common neoplasm of the parotid gland is the pleomorphic adenoma. The familial occurrence of such tumors arising within the parotid gland is rare, with only 3 previous reports in the literature. Bilateral synchronous pleomorphic adenomas of the parotid gland are also uncommon. We report 2 siblings with pleomorphic adenomas of the parotid gland, 1 of whom had bilateral synchronous mixed tumors. Patients and Methods Chromosomal analysis of tumor cells from the sibling with bilateral adenomas revealed the translocation t(3;12)(p21;q15). Chromosome 12q breakpoints have previously been identified in a wide variety of solid tumors including pleomorphic adenomas of the parotid gland. CONCLUSIONS: We discuss bilateral mixed tumors, familial parotid tumors, and the potential for a genetic predisposition for the recurrence of such parotid tumors, as suggested by characteristic chromosomal translocations associated with mixed tumors.
Assuntos
Adenoma Pleomorfo/genética , Neoplasias Parotídeas/genética , Adenoma Pleomorfo/diagnóstico , Adenoma Pleomorfo/patologia , Adenoma Pleomorfo/cirurgia , Cromossomos Humanos Par 12 , Feminino , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/genética , Neoplasias Parotídeas/diagnóstico , Neoplasias Parotídeas/patologia , Neoplasias Parotídeas/cirurgia , Translocação GenéticaRESUMO
Scrapie is a degenerative disease of the central nervous system of sheep and goats. The causative agent has been passaged to a number of laboratory species, including mice and hamster. Amyloid plaque formation and vacuolation, the signs of senile dementia, are found in the brains of mice infected with 87V scrapie agent. Dopamine (DA) and norepinephrine (NE) concentrations in the brains of scrapie-infected mice were measured with high-performance liquid chromatography-electrochemical detector (HPLC-ECD). A significant decrease in NE level was exhibited in all regions tested, whereas the level of DA decreased significantly only in cerebral cortex. Immunohistochemistry was used to examine immunoreactive catecholamine neurons in substantia nigra and locus ceruleus using antisera against tyrosine hydroxylase (TH). The population of TH-immunoreactive neurons in the substantia nigra and locus ceruleus were significantly decreased in scrapie-infected mice compared to controls. These data suggest that both the noradrenergic and dopaminergic system are sensitive to the action of scrapie agent 87V and that changes in the catecholamine levels in the brains of scrapie-infected mice may contribute to some of the clinical symptoms of the diseases, such as ataxia and apraxia.
Assuntos
Encéfalo/metabolismo , Dopamina/metabolismo , Neurônios/metabolismo , Norepinefrina/metabolismo , Proteínas PrPSc , Scrapie/metabolismo , Animais , Encéfalo/patologia , Cerebelo/metabolismo , Córtex Cerebral/metabolismo , Cricetinae , Feminino , Mesencéfalo/metabolismo , Camundongos , Camundongos Endogâmicos , Degeneração Neural/patologia , Neurônios/patologia , Especificidade de Órgãos , Ponte/metabolismo , Valores de Referência , Scrapie/patologia , Vacúolos/metabolismo , Vacúolos/patologiaRESUMO
The basic principles of successful total nasal reconstruction include providing a sufficient amount of tissue coverage, creating an adequate structural framework, and fashioning a viable inner lining. Relative uniformity of opinion exists regarding sources for tissue coverage and nasal lining. A variety of options exists, however, regarding the type of material used for nasal framework. Alloplastic metals, such as vitallium or titanium mesh, combined with autogenous soft tissue coverage, are reliable alternatives for use in total nasal reconstruction.
Assuntos
Rinoplastia/métodos , Cartilagem/transplante , Testa/cirurgia , Humanos , Mucosa Nasal/cirurgia , Mucosa Nasal/transplante , Septo Nasal/cirurgia , Transplante de Pele , Retalhos Cirúrgicos , Telas Cirúrgicas , Expansão de TecidoRESUMO
The vast majority of cerebellopontine angle (CPA) tumors are extraaxial masses arising from either the eighth nerve (acoustic neuroma) or meninges (meningioma). Rarely, a tumor that arises from the brain parenchyma may protrude laterally to present with a clinical and radiographic picture simulating that of the much more common extraaxial lesions. Three individuals with CPA lesions that ultimately proved at operation to be exophytic brain tumors (pontine medulloblastoma, cerebellar astrocytoma, and fourth ventricular ependymoma) are described. The clinical manifestations of these lesions, although not entirely typical, fell well within the possible range of presentation of benign tumors primary to the CPA. In two of these cases the tumor actually penetrated into the internal auditory canal. As the optimal management strategy for treating parenchymal tumors differs substantially from that for extraaxial lesions, it is essential that the surgeon have a preoperative awareness of the lesion's nature before embarking on a surgical endeavor. Critical to arriving at the correct diagnosis is the close examination of preoperative imaging studies. The clinician should be alerted to the possibility that a CPA tumor is of intraaxial origin when the preoperative magnetic resonance imaging scan shows 1) blurring of the margin between the tumor and brainstem or cerebellum; 2) a degree of peritumoral hyperintensity on T2-weighted scans disproportionate to the size of the extraaxial mass; and 3) dilation of the lateral recess of the fourth ventricle.
Assuntos
Neoplasias Encefálicas/diagnóstico , Neoplasias Cerebelares/diagnóstico , Ângulo Cerebelopontino , Idoso , Diagnóstico Diferencial , Ependimoma/diagnóstico , Feminino , Glioblastoma/diagnóstico , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Meduloblastoma/diagnósticoRESUMO
Although neurofibromatosis (NF) became widely recognized as a pathologic entity in the late 19th century, only relatively recently has a clear distinction been made between its generalized form and the central variety. The latter form is typified by bilateral acoustic neuromas (ANs), which may be accompanied by other intracranial tumors, in particular, meningiomas. Up until almost the current era, confusion regarding the protean manifestations of the 2 types of NF existed in the minds of clinicians and in the literature. In 1987, a consensus panel of the National Institutes of Health differentiated the clinical manifestations associated with classic von Recklinghausen syndrome from those of the predominantly intracranial subtype and they were subsequently deemed NF type 1 (NF-1) and NF type 2 (NF-2), respectively. During the last few years, the genetic flaws that underlie these 2 syndromes have been elucidated, revealing that their origins lie in defects on separate chromosomes. The early literature on the subject included repeated descriptions of patients with manifestations typical of NF-2. The investigators, however, considered the intracranial lesions to be merely 1 facet of the generalized form of the disease. A few prescient individuals, however, demonstrated an appreciation for the distinguishing characteristics between these superficially similar, yet quite different, syndromes. The goals of this article are to trace the evolution of the concept of NF-2 as a distinct clinical entity from NF-1 and to assess the early awareness of and attitudes toward bilateral ANs, familial ANs, and ANs associated with other intracranial tumors.