RESUMO
Most cases of pyruvate dehydrogenase complex (PDHc) deficiency are attributable to mutations in the PDHA1 gene which encodes the E(1)α subunit, with few cases of mutations in the genes for E(3), E3BP (E(3) binding protein), E(2) and E(1)-phosphatase being reported. Only seven patients with deficiency of the E(1)ß subunit have been described, with mutations in the PDHB gene in six of them. Clinically they presented with a non-specific encephalomyopathy. We report two patients with new mutations in PDHB and Leigh syndrome. Patient 1 was a boy with neonatal onset of hyperlactataemia, corpus callosum hypoplasia and a convulsive encephalopathy. After neurological deterioration, he died at age 5 months. Autopsy revealed the characteristic features of Leigh syndrome. Patient 2, also a boy, presented a milder clinical course. First symptoms were noticed at age 16 months with muscular hypotonia, lactic acidosis and recurrent episodes of somnolence and transient tetraparesis. MRI revealed bilateral signal hyperintensities in the globus pallidus, midbrain and crura cerebri. PDHc and E(1) activities were deficient in fibroblasts in patient 1; in patient 2 PDHc deficiency was found in skeletal muscle. Mutations in PDHA1 were excluded. Sequencing of PDHB revealed a homozygous point mutation (c.302T>C), causing a predicted amino acid change (p.M101T) in patient 1. Patient 2 is compound heterozygote for mutations c.301A>G (p.M101V) and c.313G>A (p.R105Q). All three mutations appear to destabilize the E(1) enzyme with a decrease of both E(1)α and E(1)ß subunits in immunoblot analysis. To our knowledge, these patients with novel PDHB mutations are the first reported with Leigh syndrome.
Assuntos
Doença de Leigh/enzimologia , Mutação Puntual , Piruvato Desidrogenase (Lipoamida)/deficiência , Piruvato Desidrogenase (Lipoamida)/genética , Sequência de Aminoácidos , Sequência de Bases , Criança , Pré-Escolar , Triagem de Portadores Genéticos , Homozigoto , Humanos , Lactente , Recém-Nascido , Doença de Leigh/diagnóstico , Doença de Leigh/genética , Masculino , Dados de Sequência MolecularRESUMO
INTRODUCTION: Primitive neuroectodermal tumors (PNETs) are malign neoplasms of the central nervous system which mainly locate in cerebellum (medulloblastoma). Primary intraspinal PNETs are rare. Within this group, we have found ten cases of purely intramedullary PNETs (IPNETs). In this report, we describe a new IPNET case and review the literature about these infrequent intramedullary tumors. CASE REPORT: A 17 month-old boy showed progressive decrease of motion in his lower extremities. Spine magnetic resonance imaging revealed an intramedullary expansive lesion from T3 to T10. A near-total removal was performed. The pathological diagnosis was PNET. Subsequent chemotherapy was recommended. Six months after operation, holocord progression has occurred. CONCLUSION: IPNETs are uncommon tumors affecting children and young adults. They are characterized by recurrence, progression or intracranial dissemination. Outcome is dismal: most patients die within two years in spite of surgical resection followed by radiotherapy and chemotherapy.
Assuntos
Tumores Neuroectodérmicos Primitivos/patologia , Neoplasias da Medula Espinal/patologia , Vértebras Torácicas , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carboplatina/administração & dosagem , Cisplatino/administração & dosagem , Terapia Combinada , Ciclofosfamida/administração & dosagem , Progressão da Doença , Etoposídeo/administração & dosagem , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Metotrexato/administração & dosagem , Tumores Neuroectodérmicos Primitivos/tratamento farmacológico , Tumores Neuroectodérmicos Primitivos/cirurgia , Paraparesia/etiologia , Prognóstico , Neoplasias da Medula Espinal/tratamento farmacológico , Neoplasias da Medula Espinal/cirurgiaRESUMO
The diaphragm is the main breathing muscle and contraction of the diaphragm is vital for ventilation so any disease that interferes with diaphragmatic innervation, contractile muscle function, or mechanical coupling to the chest wall can cause diaphragm dysfunction. Diaphragm dysfunction is associated with dyspnoea, intolerance to exercise, sleep disturbances, hypersomnia, with a potential impact on survival. Diagnosis of diaphragm dysfunction is based on static and dynamic imaging tests (especially ultrasound) and pulmonary function and phrenic nerve stimulation tests. Treatment will depend on the symptoms and causes of the disease. The management of diaphragm dysfunction may include observation in asymptomatic patients with unilateral dysfunction, surgery (i.e., plication of the diaphragm), placement of a diaphragmatic pacemaker or invasive and/or non-invasive mechanical ventilation in symptomatic patients with bilateral paralysis of the diaphragm. This type of patient should be treated in experienced centres. This review aims to provide an overview of the problem, with special emphasis on the diseases that cause diaphragmatic dysfunction and the diagnostic and therapeutic procedures most commonly employed in clinical practice. The ultimate goal is to establish a standard of care for diaphragmatic dysfunction.
Assuntos
Diafragma/fisiopatologia , Nervo Frênico/fisiopatologia , Paralisia Respiratória/terapia , Ultrassonografia/métodos , Diafragma/diagnóstico por imagem , Diafragma/inervação , Diafragma/cirurgia , Eventração Diafragmática/complicações , Eventração Diafragmática/diagnóstico por imagem , Eventração Diafragmática/fisiopatologia , Fluoroscopia/métodos , Humanos , Microcirurgia/métodos , Nervo Frênico/lesões , Nervo Frênico/patologia , Nervo Frênico/cirurgia , Radiografia/métodos , Respiração Artificial/métodos , Respiração Artificial/tendências , Testes de Função Respiratória/métodos , Paralisia Respiratória/etiologia , Estimulação Elétrica Nervosa Transcutânea/métodosRESUMO
Meningioangiomatosis (MA) is a rare benign intracraneal lesion. The majority of cases are sporadic although the association of this lesion with familial neurofibromatosis (NF) type 2 is well known. NF-associated MA may be multifocal and is often asymptomatic and diagnosed at autopsy. Non-associated cases are usually symptomatic, occurs in children and young adults and frequently arise in leptomeninges and underlying cerebral cortex. In the present work, we describe two new non-associated cases of MA in two boys, seven and one year old with seizures that disappeared after surgical excision. Histopathologically, the lesion was predominantly cellular in one case and more fibrous in the other. From the literature review we concluded that sporadic cases present as single lesions which manifest by seizures or persistent headaches. Rarely MA has been described to coexist with meningiomas. Histopathologically, MA is characterized by a plaque-like proliferation of meningothelial and fibroblast- like cells surrounding small vessels and trapping islands of gliotic cortical tissue. The lesion does not show significant atypia, mitosis or necrosis. Although all cases of MA share unifying features, there are different degrees of histological presentation with cases predominantly cellular and others more fibrous and calcified. This could correspond to different stages in the evolution of the MA. Symptoms disappear with the complete excision of the lesion.
Assuntos
Angiomatose/diagnóstico , Neoplasias Meníngeas/diagnóstico , Meningioma/diagnóstico , Adolescente , Adulto , Idoso , Angiomatose/etiologia , Angiomatose/patologia , Criança , Feminino , Humanos , Lactente , Masculino , Neoplasias Meníngeas/etiologia , Neoplasias Meníngeas/patologia , Meningioma/etiologia , Meningioma/patologia , Pessoa de Meia-Idade , Neurofibromatose 2/complicações , Literatura de Revisão como AssuntoRESUMO
Xanthogranulomas of the choroids plexus (XG) are benign tumours of debatable etiology which become rarely symptomatic. Only few cases have been studied with MRI. A new case of xanthogranuloma of the third ventricle showing unusual features in the CT and MRI studies in a 47-year-old man with a 2-month history of gait and urinary disturbances and cognitive impairment is reported. The literature concerning clinical and neuroradiological presentation of intracranial xanthogranulomas is reviewed.
Assuntos
Neoplasias do Plexo Corióideo/diagnóstico , Plexo Corióideo/patologia , Granuloma/diagnóstico , Terceiro Ventrículo/anatomia & histologia , Xantomatose/diagnóstico , Neoplasias do Plexo Corióideo/patologia , Neoplasias do Plexo Corióideo/cirurgia , Granuloma/patologia , Granuloma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Literatura de Revisão como Assunto , Terceiro Ventrículo/patologia , Resultado do Tratamento , Xantomatose/patologia , Xantomatose/cirurgiaRESUMO
We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous C-to-A mutation results in the replacement of a highly conserved alanine at amino acid position 659 with an aspartic acid in the C-terminal domain of the myophosphorylase gene protein, near binding sites for pyridoxal phosphate and glucose. Our data further expand the genetic heterogeneity in patients with McArdle's disease.
Assuntos
Doença de Depósito de Glicogênio Tipo V/diagnóstico , Doença de Depósito de Glicogênio Tipo V/genética , Homozigoto , Mutação de Sentido Incorreto/genética , Fosforilases/genética , Adulto , Sítios de Ligação/genética , Biópsia , Sequência Conservada , Análise Mutacional de DNA , Humanos , Masculino , Músculo Esquelético/enzimologia , Músculo Esquelético/patologia , Fosforilases/metabolismo , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , EspanhaRESUMO
We studied two patients with ragged-red fibers and combined defects of the mitochondrial respiratory chain in their muscle biopsy. One had mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, and harbored a T3258C transition in the tRNA(Leu(UUR)) gene. The other showed myopathy plus cardiomyopathy and had an A3280G mutation in the same gene. Both mutations were heteroplasmic, abundant in muscle of the patients, less abundant in blood, and still less abundant in blood from their maternal relatives. In both patients, single muscle fiber analysis revealed greater abundance of mutant genomes in ragged-red fibers than in normal fibers, supporting the pathogenicity of both mutations.
Assuntos
DNA Mitocondrial/genética , Músculo Esquelético/patologia , Doenças Musculares/genética , Mutação , Miocárdio/patologia , RNA de Transferência de Leucina/genética , Acidose Láctica/genética , Adenina , Adulto , Biópsia , Cardiomiopatias/genética , Citosina , Feminino , Guanina , Humanos , Masculino , Encefalomiopatias Mitocondriais/genética , Fenótipo , Polimorfismo Genético , Acidente Vascular Cerebral/genética , TiminaRESUMO
We studied 10 patients with a variable degree of mtDNA depletion in muscle. Seven patients showed a clear-cut myopathic pattern, while the three remaining had brain involvement. There was no relationship between age at onset and relative mtDNA copy number in muscle, but we found an apparent correlation between clinical severity and degree of muscle mtDNA depletion. Muscle morphology showed that mtDNA depletion was associated with mitochondrial proliferation and cytochrome c oxidase negative fibers. Biochemical studies revealed single or combined defects of mtDNA-dependent respiratory chain complexes. Our data indicate that patients with mtDNA depletion may have a more variable age at onset and clinical evolution and wider phenotype than previously thought. The diagnosis of this condition, so far regarded as rare, may have been overlooked to some extent.
Assuntos
DNA Mitocondrial/genética , DNA Mitocondrial/metabolismo , Miopatias Mitocondriais/diagnóstico , Miopatias Mitocondriais/genética , Músculo Esquelético/metabolismo , Fatores Etários , Southern Blotting , Criança , Pré-Escolar , Deficiência de Citocromo-c Oxidase , DNA Ribossômico/metabolismo , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mitocôndrias/enzimologia , Mitocôndrias/metabolismo , Miopatias Mitocondriais/enzimologia , Músculo Esquelético/enzimologiaRESUMO
PURPOSE: To report a case of primary cutaneous adenoid cystic carcinoma involving the eyelid. METHODS: We examined a 70-year-old woman with an 18-month history of a gradually enlarging, blue-colored mass in the medial third of the right upper eyelid. Excisional biopsy and additional resection of the medially infiltrated margin resulted in tumor-free edges. Superior cervical and orbital evaluations were performed. RESULTS: Histopathologic evaluation revealed a primary cutaneous adenoid cystic carcinoma. No gland pathology was documented. No tumor recurrence has been noted. CONCLUSION: Primary cutaneous adenoid cystic carcinoma, an uncommon tumor of the skin, should be added to the differential diagnosis of eyelid tumors.
Assuntos
Carcinoma Adenoide Cístico/patologia , Neoplasias Palpebrais/patologia , Neoplasias Cutâneas/patologia , Idoso , Carcinoma Adenoide Cístico/cirurgia , Neoplasias Palpebrais/cirurgia , Feminino , Humanos , Neoplasias Cutâneas/cirurgiaRESUMO
A 72-year-old Caucasian woman developed degeneration of the spinal cord long tracts, polyneuropathy, and optic atrophy after chronic ingestion of clioquinol (200 mg/day) since she was 45. Diseases with a similar clinical picture, notably vitamin B12 deficiency (B12D), and subacute myelo-optic neuropathy (SMON), are discussed with regard to the pathologic findings. In our patient findings were different from those reported in B12D, but similar to those in SMON. If, as we believe, our patient was suffering from the same disease as the SMON described by Japanese authors, this is the first case reported outside Japan in which pathological verification has been obtained.
Assuntos
Clioquinol/efeitos adversos , Atrofia Óptica/induzido quimicamente , Doenças da Medula Espinal/induzido quimicamente , Idoso , Encéfalo/patologia , Doenças Desmielinizantes/induzido quimicamente , Doenças Desmielinizantes/patologia , Feminino , Humanos , Degeneração Neural/efeitos dos fármacos , Fibras Nervosas Mielinizadas/ultraestrutura , Atrofia Óptica/patologia , Nervo Óptico/patologia , Espanha , Medula Espinal/patologia , Doenças da Medula Espinal/patologiaRESUMO
Two cases of non-progressive congenital hypotonia are described in siblings, male and female, aged 5 and 9 years, respectively, which morphologically correspond to myopathy with multicore or minicore. The study of these 2 cases is compared with those described in the literature, with special emphasis on the analysis of the histochemical picture. The disease in all the cases is defined by the presence of multiple small foci of loss of cross striation with loss of activity of myofibrillar ATPase and oxidative enzymes. Furthermore, a predominance and hypotrophy of type I fibers and in some cases hypertrophy of type II is constantly recorded, which is interpreted as an alteration in muscle maturation. We review other myopathies described with focal loss of cross-striation which associate central nuclei with the myofibrillar lesion, considering them to be myopathy with multicore or minicore.
Assuntos
Hipotonia Muscular/patologia , Adenosina Trifosfatases/metabolismo , Tecido Adiposo/patologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Hipotonia Muscular/genética , Músculos/patologiaRESUMO
Three pharmacological agents, L-carnitine, L-acetylcarnitine and gangliosides, were tested for their ability to enhance the regeneration of the rat sciatic nerve following transection and microsurgical repair. The drugs were administered intraperitoneally at the dose of 50 mg/kg/d for 28 and 56 d postoperatively. At the end of treatment, the motor function recovery of the peroneal component of the sciatic nerve was assessed and the regenerated nerves were analysed morphometrically on histological semi-thin sections. Also, the reinnervated extensor digitorum longus (EDL) muscles were studied histochemically using the adenosine-triphosphatase (ATP-ase) technique 56 d after surgery. Motor function assessment at 56 d after nerve repair revealed that L-acetylcarnitine-treated animals recovered a clinical grade significantly higher (p less than 0.05) than the control animals. Twenty-eight days after nerve repair, the number of myelinated fibres was significantly higher (p less than 0.05) in L-acetylcarnitine and ganglioside-treated animals than in control animals. However, 56 d after nerve repair the number of regenerated fibres in all the drug-treated groups was not significantly different from that of the control group. The EDL muscles of the drug-treated animals did not show significant differences from those of control animals with respect to fibre composition and fibre diameter although the L-acetylcarnitine-treated animals exhibited a significantly lower (p less than 0.05) degree of muscle atrophy than did the control animals. The results of the present work seem to indicate that L-acetylcarnitine and to a lesser extent gangliosides exert some favourable effect on the regeneration of the transected sciatic nerve in rats.(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
Acetilcarnitina/farmacologia , Carnitina/análogos & derivados , Carnitina/farmacologia , Gangliosídeos/farmacologia , Neurônios Motores/fisiologia , Regeneração Nervosa/efeitos dos fármacos , Nervo Isquiático/fisiologia , Animais , Injeções Intraperitoneais , Masculino , Neurônios Motores/efeitos dos fármacos , Músculos/inervação , Compressão Nervosa , Ratos , Ratos Endogâmicos , Nervo Isquiático/efeitos dos fármacos , Fatores de TempoRESUMO
Solitary fibrous tumor (SFT) is a mesenchymal neoplasm that has been recognized to occur almost all along the organism. Since its description in 1996 at the meninges, a total of 59 cases of meningeal SFT have been reported. Different authors have emphasized the difficulties in the differential diagnosis with other more frequent meningeal neoplasms such as meningioma or hemangiopericytoma, as the clinico-radiological characteristics of this lesion seem to be non specific and the morphological features on pathological study may resemble other spindle cell neoplasms. The diffuse and strong reactivity for CD34 and the negativity for EMA and S-100 are data allowing the diagnosis of SFT. We report the case of a 50-year-old woman suffering from headache, in whom MRI study showed a tentorial lesion initially thought to be a meningioma. In spite of morphological similarities with a fibrous meningioma, inmunohistochemical study finally led to the diagnosis of SFT. As occurred in previous cases, the findings in our patient reflect the similarities in clinico-radiological and pathological characteristics between meningeal SFT and other spindle cell meningeal neoplasms, mainly fibrous meningioma. When a clear diagnosis cannot be done based on typical findings on conventional hematoxylin-eosin study, inmunohistochemical study should be performed in meningeal spindle cell lesions to exclude SFT.
Assuntos
Dura-Máter/patologia , Neoplasias Meníngeas/patologia , Neoplasias de Tecido Fibroso/patologia , Fossa Craniana Posterior , Diagnóstico Diferencial , Feminino , Cefaleia/patologia , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Brainstem gangliogliomas are rare low-grade tumors that usually have a long clinical history. However, they may cause sudden death. There are only 31 cases of brainstem ganglioglioma reported in the literature, and only one has been studied with magnetic resonance (MR). We present three new cases of brainstem ganglion cell tumor studied with computed tomography (CT) (3 cases) and MR (2 cases) and discuss the clinical presentation, diagnostic imaging and treatment of these tumors. CASE DESCRIPTION: Age at presentation ranged from 19 to 59 years old. Two patients were female and 1 male. Duration of symptoms before diagnosis ranged from 1 year to nearly 14 years. Presenting complaints included syncope spells, cranial nerve deficits, headache, and gait instability. Imaging studies revealed well-circumscribed lesions involving the brainstem; the lesion was cystic in one case and calcified in one. They were iso- or hyperdense on CT scan, isodense on T1-weighted and hyperdense on T2-weighted MRI and frequently showed contrast enhancement. All tumors were operated through a posterior fossa craniectomy. Using microsurgical techniques only partial resection could be achieved, as there was no sharp delineation from the surrounding tissue in any case. Two of our patients had increased neurological deficits after surgery. Radiotherapy was not given. Follow-up of tumoral remnants has not shown clear tumor growth after 1, 3.5, and 10 years. CONCLUSIONS: Imaging characteristics of brainstem gangliogliomas do not seem to differ from those in other locations and are not specific. Radical surgery is rarely if ever possible, nor is it advisable because of the risk of functional deterioration. However, because of their benign histology, partial resection seems to carry a similar prognosis as tumors in other locations that are amenable to complete resection.
Assuntos
Neoplasias do Tronco Encefálico/cirurgia , Ganglioglioma/cirurgia , Adulto , Neoplasias do Tronco Encefálico/diagnóstico , Neoplasias do Tronco Encefálico/patologia , Neoplasias do Ventrículo Cerebral/diagnóstico , Neoplasias do Ventrículo Cerebral/patologia , Neoplasias do Ventrículo Cerebral/cirurgia , Craniotomia , Feminino , Quarto Ventrículo/patologia , Quarto Ventrículo/cirurgia , Ganglioglioma/diagnóstico , Ganglioglioma/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Derivação VentriculoperitonealRESUMO
The effects of acetyl-L-carnitine on some degenerative and regenerative phenomena following sciatic nerve transection in rats, were studied. In Experiment 1, acetyl-L-carnitine was administered intraperitoneally at the dose of 50 mg/kg/day for 28 and 56 days following transection and microsurgical repair of the sciatic nerve. On day 56, the acetyl-L-carnitine-treated rats showed a significantly (p less than 0.05) better motor recovery ("clinical assessment") of the peroneal component of the sciatic nerve than the control rats. Twenty-eight days after nerve repair, the acetyl-L-carnitine-treated rats showed a significantly higher (p less than 0.05) number of myelinated axons in the postlesional nerve stump than control rats. Finally, the treated rats had a significantly lower (p less than 0.05) presence of atrophic fibres in the extensor digitorum longus muscle. In Experiment 2 the sciatic nerve was cut. To prevent spontaneous regeneration, a metallic clip was applied to the distal nerve stump and then the nerve stumps were positioned in different anatomical compartments. After surgery, a group of rats was treated with acetyl-L-carnitine dissolved in the drinking water (75 mg/kg/day). Another group of rats received normal water and served as the control group. Three, 6, 9, 12 and 18 months postoperatively, in the rats of both groups, the proximal sciatic nerve stump was injected with horseradish peroxidase to label the spinal cord neurons of the sciatic nerve nucleus. While in untreated rats the number of horseradish peroxidase-labelled neurons decreased with the increase in denervation time, in acetyl-L-carnitine-treated rats the number of horseradish peroxidase-labelled neurons remained stable for as long as 12 months of denervation and decreased only after 18 months of denervation. Furthermore, acetyl-L-carnitine-treated rats showed a significantly higher (p less than 0.05) number of horseradish peroxidase-labelled neurons with respect to untreated rats both after 9 and 12 months of denervation. In Experiment 3, the sciatic nerve was cut and then repaired after periods of 3, 6, 9, 12, and 18 months. Four months after nerve repair, the sciatic nerve was again cut and the proximal nerve stump was injected with horseradish peroxidase to label the spinal cord neurons of the sciatic nerve nucleus. Both acetyl-L-carnitine-treated and untreated rats showed a tendency to have an increased number of horseradish peroxidase-labelled neurons with respect to intact rats of correspondent ages.(ABSTRACT TRUNCATED AT 400 WORDS)
Assuntos
Acetilcarnitina/farmacologia , Carnitina/análogos & derivados , Degeneração Neural/efeitos dos fármacos , Regeneração Nervosa/efeitos dos fármacos , Nervo Isquiático/fisiologia , Animais , Axônios/efeitos dos fármacos , Peroxidase do Rábano Silvestre , Masculino , Neurônios Motores/efeitos dos fármacos , Neurônios/efeitos dos fármacos , Ratos , Ratos Endogâmicos , Nervo Isquiático/efeitos dos fármacos , Nervo Isquiático/ultraestruturaRESUMO
In 16 women and 66 men, aged 14 to 36 years, 10 sedentary and 72 athletes, the histochemical characteristics of the vastus muscle fibres have been studied. Muscle biopsies were processed histochemically using the myofibrillar ATPase method, and were classified according to gender, sport activity and type of exercise. The average diameter of muscle fibres was larger in men than in women and in trained individuals than in sedentary ones. The largest percentage of Type I fibres was found in long distance runners; the smallest in those performing karate and triple jump. The largest percentage of Type IIA fibres was found in swimmers and the smallest in footballers. The largest percentages of Type IIB and IIC fibres were found in footballers. The largest average diameters of Type I and Type II fibres were found in swimmers and in long distance athletes respectively. Type I and Type II fibres were dominant in the aerobic group and the anaerobic one, respectively; the percentage of Type IIC fibres was smaller in the anaerobic group.
Assuntos
Fibras Musculares Esqueléticas/ultraestrutura , Músculo Esquelético/ultraestrutura , Esportes , Adenosina Trifosfatases/metabolismo , Adolescente , Adulto , Fatores Etários , Feminino , Histocitoquímica , Humanos , Perna (Membro)/fisiologia , Masculino , Fibras Musculares de Contração Rápida/enzimologia , Fibras Musculares de Contração Rápida/ultraestrutura , Fibras Musculares Esqueléticas/enzimologia , Fibras Musculares de Contração Lenta/enzimologia , Fibras Musculares de Contração Lenta/ultraestrutura , Músculo Esquelético/enzimologia , Miofibrilas/enzimologia , Miofibrilas/ultraestrutura , Fatores SexuaisRESUMO
PURPOSE: To report a case of congenital phakomatous choristoma (PC) of the eyelid, a rare tumor of lenticular anlage in the subcutaneous tissue and dermis. CASE: A boy had a mass in the right lower eyelid near the inner canthus at birth. At age 10 months, the tumor was excised. RESULTS: The tumor cells showed intense immunoreactivity positive for S-100 protein, vimentin, and periodic acid-Schiff. Keratin markers, epithelial membrane antigen, glial fibrillary acidic protein, muscle specific actin, and epithelial membrane antigen were negative. The histopathologic features were consistent with those of a PC. CONCLUSIONS: This histopathologic and immunoreactivity study supports the proposal that PC is a rare entity of lenticular anlage origin. Only 18 such cases have been described previously.
Assuntos
Coristoma/patologia , Doenças Palpebrais/patologia , Cristalino , Biomarcadores/análise , Coristoma/metabolismo , Coristoma/cirurgia , Proteínas do Olho/metabolismo , Doenças Palpebrais/metabolismo , Doenças Palpebrais/cirurgia , Humanos , Recém-Nascido , MasculinoRESUMO
BACKGROUND: To analyse the scientific product of research projects funded by Fondo de Investigación Sanitaria in 1988 emphasizing its relation to money granted. METHODS: 270 out of 610 projects were evaluated in relation to the amount granted. The number of papers published to each project and the impact factor assigned to the journals where these papers were published; we also assessed the mean cost of papers and impact factor units. These projects were coded following UNESCO classifications, and papers as per ISI standards. RESULTS: A total of 95 projects out of the 270 analysed produced no papers; the other 175 projects yielded 471 articles (2.7 per project); the mean cost of each article was 1.1 million pesetas, or 0.8 million if only the productive projects were considered. These papers reached a total of 818,709 impact factor units; the mean cost of the impact factor unit is 660,796 pesetas, or 459,626 pesetas if only productive projects are considered. CONCLUSIONS: Non productive projects were those that received less funding. 33% of projects produced papers published in journals with an assigned impact factor equal or inferior to one. There are evident differences among areas of knowledge in terms of impact factor. This study must be completed with a statistical analysis of reported data.
Assuntos
Publicações Periódicas como Assunto/estatística & dados numéricos , Editoração/economia , Editoração/estatística & dados numéricos , Apoio à Pesquisa como Assunto , Estudos de Avaliação como AssuntoRESUMO
By means of the modified trichromic method of Gomori, introduced by Engel and Cunningham in 1963 [1], it has been possible to demonstrate the presence of ragged-red fibers (RRF) in the mitochondrial myopathies. At present, to study these disorders in muscle biopsies, one may also use morphological, ultrastructural, histochemical, fluorescent, immunological and molecular biology methods. However, the alterations thus demonstrated in striated muscle are not always present in all these diseases due to mitochondrial alterations. At the same time, the multisystemic nature of these diseases also implies alterations in the central nervous system.
Assuntos
Miopatias Mitocondriais/patologia , Anticorpos Antinucleares/genética , Biópsia , DNA Mitocondrial/genética , Humanos , Mitocôndrias/patologia , Mitocôndrias/ultraestrutura , Miopatias Mitocondriais/genética , Músculo Esquelético/patologia , Músculo Esquelético/ultraestruturaRESUMO
Among the group of pituitary adenomas surgically treated, about 25-30% are not associated with clinical or analytical findings of hormonal hypersecretion. The development of immunohistochemical techniques has allowed the demonstration of a subgroup of adenomas that show immunoreactivity against several hormones among the group of, apparently, non-functioning adenomas. This subgroup has been called silent adenomas. Silent adenomas positive for ACTH show a singular clinical picture and different from those adenomas producing Cushing's disease, as they present more frequently as macroadenomas, with more frequent pituitary apoplexy, invasion of cavernous or sphenoidal sinus and recurrences. We present two new cases of silent corticotroph adenomas in two female patients that presented with pituitary apoplexy, one of them after giving birth after a normal full-term pregnancy. Both of them presented with macroadenomas that invaded the sphenoidal and cavernous sinus. Although both tumors were immunoreactive for ACTH, none of the patients presented clinical or analytical findings compatible with Cushing's disease.