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Flavia M. N. P. Aslanian Maria Teresa Q. Marques Haroldo J. Matos Luciane F. S. Pontes Luis Cristvo S. Porto Lucia M. S. Azevedo Absalom L. Filgueira 《Journal der Deutschen Dermatologischen Gesellschaft》2006,4(10):842-847
Background: Lichen sclerosus (LS) has been identified with increased frequency in families,often associated with HLA markers, mainly DQ7. A genetic co‐etiology seems likely in this setting. Moreover, there is an association of LS with autoimmune disorders, such as the presence of anti‐thyroid peroxidase autoantibodies (anti‐TPO), a hallmark of autoimmune thyroid diseases. Patients and Methods: In 3 families affected by LS, we verified their HLA markers, and identified previously undiagnosed cases of LS and autoimmune disorders. 30 individuals were examined with history, skin biopsy, HLA class I and II typing by PCR‐SSP, and measurement of anti‐TPO, free thyroxine and thyroidstimulating hormones (TSH) levels. Results: There were 8 cases of LS, 50 % of them anti‐TPO+. Autoimmune disorders were found in 40 % (total) and in 87.5 % of those affected. Most common HLA markers were B*15, B*57, CW*03, CW*07, CW*18, DRB1*04, DRB1*07, DRB4*. The three latter have been previously associated with LS. Conclusion: New cases of LS and autoimmune disorders can be detected in first degree relatives of patients with LS. The presence of anti‐TPO antibodies strongly suggests autoimmune thyroiditis. There is intra‐familial association between the haplotype HLA‐B*15 ‐DRB1*04 ‐DRB4* and anti‐TPO,emphasizing their link with thyroiditis. New familial approaches might help to make clear the pathogenesis of LS and its association with autoimmune diseases. 相似文献
3.
L. Porto E. Hattingen U. Pilatus M. Kieslich B. Yan D. Schwabe F. E. Zanella H. Lanfermann 《Child's nervous system》2007,23(3):305-314
Background Diagnosis of brainstem lesions in children based on magnetic resonance imaging alone is a challenging problem. Magnetic resonance
spectroscopy (MRS) is a noninvasive technique for spatial characterization of biochemical markers in tissues and gives information
regarding cell membrane proliferation, neuronal damage, and energy metabolism.
Methods We measured the concentrations of biochemical markers in five children with brainstem lesions and evaluated their potential
diagnostic significance. Images and spectra were acquired on a 1.5-T imager. The concentrations of N-acetylaspartate, tetramethylamines (e.g., choline), creatine, phosphocreatine, lactate, and lipids were measured within lesions
located at the brainstem using Point-resolved spectroscopy sequences.
Results Diagnosis based on localized proton spectroscopy included brainstem glioma, brainstem encephalitis, demyelination, dysmyelination
secondary to neurofibromatosis type 1 (NF 1), and possible infection or radiation necrosis. In all but one patient, diagnosis
was confirmed by biopsy or by clinical follow-up.
Conclusions This small sample of patients suggests that MRS is important in the differential diagnosis between proliferative and nonproliferative
lesions in patients without neurofibromatosis. Unfortunately, in cases of NF 1, MRS can have a rather misdiagnosis role. 相似文献
4.
5.
Roberto Rivera-Luna Marta Zapata-Tarrés Aurora Medina-Sansón Enrique López-Aguilar Ana Niembro-Zúñiga J. Amador Zarco Alfonso Marhx-Bracho Fernando Rueda-Franco Leticia Bornstein-Quevedo 《Child's nervous system》2007,23(5):543-547
Objective The purpose of this study is to analyze clinical aspects and disease-free survival (DFS) in children less than 3 years of
age diagnosed with low-grade astrocytoma.
Methods In a period of 24 years (1980–2004), a total of 43 (5.4%) children were registered with these characteristics. Twenty-three
patients had pilocytic astrocytoma, 18 diffused, and 2 mixed. Thirty-one (72.1%) children had incomplete surgical tumor resection
and 12 (27.9%) had a complete tumor resection. Twelve (27.9%) patients had cranial radiotherapy and 17 (39.5%) received chemotherapy.
Overall survival was recorded in 23 (53%). DFS was 50% at 250 months of follow-up for the whole group. DFS for the supratentorial
group was 60% at 250 months, whereas, for the infratentorial, it was 22% at 120 months (p = 0.008).
Conclusion The only favorable prognostic pattern was the supratentorial presentation. Radiotherapy and chemotherapy did not alter the
outcome. 相似文献
6.
Antonio Amoroso Pierluigi Garzia Marta Vadacca Sara Galluzzo Flavia Del Porto Anna P Mitterhofer Antonella Afeltra 《The Journal of adolescent health》2003,32(1):94-97
We report on a 26-year-old female affected by Noonan syndrome (NS), a congenital disorder characterized by various phenotypic features and congenital anomalies) associated with a variety of autoimmune diseases, including systemic lupus erythematosus, celiac disease, and Hashimoto thyroiditis. Autoimmunity is seldom described in NS and the association between this congenital disease and three autoimmune disorders has not been previously reported. Should the occurrence of autoimmune disorders in NS be confirmed, a relevant clinical and laboratory evaluation of NS patients should be performed in order to clarify whether the immune system involvement represents only an occasional event or is a feature of the disease. 相似文献
7.
Ren Drucker-Colín Leticia Verdugo-Díaz Milagros Mndez Jos Carrillo-Ruiz Consuelo Morgado-Valle Arturo Hernndez-Cruz Gabriel Corkidi 《Molecular and cellular neurosciences》1994,5(6)
Adrenal chromaffin cells in vitro respond to nerve growth factor (NGF) by expressing neuronal traits. Low frequency magnetic (LFM) field stimulation, while inducing a variety of effects on several cell types, has never been studied as to its effects on chromaffin cell cultures. The purpose of this study was to compare the effects of LFM field stimulation with that of NGF on the morphological phenotype, on noradrenaline (NA) release, and on membrane excitability of cultured chromaffin cells. We also tested the effects of grafting LFM and NGF-treated chromaffin cells into the caudate nucleus of rats with 6-hydroxydopamine lesions of the nigrostriatal pathway. The results of this study showed that LFM field stimulation produced neurite growth of cultured chromaffin cells in a manner similar to that of NGF exposure. The combination of the two procedures did not induce changes above those observed by NGF alone. Both NGF- and LFM-treated chromaffin cells released [3H]NA equally in response to a depolarizing concentration of KCl. On the other, Na+ current density of LFM field stimulation increased, but to a lesser extent than that seen in NGF-treated cells. In addition both types of cells when transplanted into nigrostriatal-lesioned animals induced a similar decrease in the motor asymmetries produced by the lesion. When NGF- or LFM-treated chromaffin cells where compared to untreated control cells, no significant differences were observed in [3H]NA release, on Na+ current densities, or on postgraft motor asymmetries. The results are discussed in terms of the fact that LFM-stimulated cells can be differentiated in a manner similar to NGF-treated cells, by acquiring sympathetic like traits which in turn can diminish motor asymmetries when grafted into nigrostriatal-lesioned rats. 相似文献
8.
Isabel Porto 《Journal of human lactation》2003,19(4):421-425
Infections involving helminths or parasitic worms affect more than 25% of the population worldwide. Because lactating women and their infants are often affected by the complications of these infections such as iron deficiency anemia and malnutrition, they benefit the most from drug therapy. However, scientific literature offers little information regarding transfer of anthelmintics in breast milk and its effects in lactating infants. Scabies and pediculosis, or lice, are common skin infections affecting school-aged children. Close contacts of infected children, which often include lactating mothers, need treatment with one of the several topical products available in the market. This article will review the physicochemical properties and use of anthelmintics, pediculicides, and scabicides while breastfeeding. 相似文献
9.
Gabriel Manjarrez Leticia Manuel-A Rosalio Mercado-C Jorge Hernandez-R 《International journal of developmental neuroscience》2003,21(5):283-289
In this study, we report that 5-HT(1A) receptors are already present in fractions of axonal growth cones, from the normal rat fetal brain (E-17). Also, in utero undernourished (UN) rat pups at birth show a noteworthy enhancement in the B(max) of [3H]5-hydroxytryptamine (5-HT) and [3H]8-hydroxy-(2-N,N-dipropilamin)-tetralin (([3H])8-OH-DPAT), in the brainstem and cerebral cortex up to the second week after birth. Afterwards, there is a significant decrease in the binding of these ligands. [125I]Cyanopindolo binding in the cerebral cortex only showed a decrease in the same period. An elevation of brain serotonin in both regions was also present. These findings together, suggest that the mechanisms of regulation of serotonergic receptors' expression during the period studied, may not depend on the amount of neurotransmitter in the synaptic cleft, because in the early UN brain it would be expected only a lower receptor's density due to the chronic serotonin increase. On this basis, we propose that developmental activation of brain serotonin biosynthesis observed in early UN animals may disrupt the mechanism regulating the expression of 5-HT receptors during development. 相似文献
10.
Leonardo F Fontenelle Edward C Lauterbach Leonardo L Telles Marcio Versiani Fábio H Porto Mauro V Mendlowicz 《Cognitive and behavioral neurology》2007,20(1):21-24
OBJECTIVE: We describe the case of a patient who developed an episode of catatonia during the course of her life-long obsessive-compulsive disorder (OCD) and discuss issues related to the etiopathogenesis, differential diagnosis, and therapeutic management of this association. BACKGROUND: Catatonia is conventionally considered a heterogeneous syndrome of motor dysregulation characterized by mutism, immobility, negativism, posturing (catalepsy), stereotypies, and echophenomena. The relationship between OCD and catatonia is still misunderstood and poses significant challenges to the diagnosis and treatment of patients with both conditions. METHOD: Naturalistic follow-up of a single case. RESULTS: A patient with OCD developed catatonia in concert with deteriorating mood, thought, and behavior. This atypical clinical presentation of individuals with OCD and the list of differential diagnosis raised during the patient's clinical assessment are discussed on 3 different levels: symptomatic presentation, comorbidity pattern, and pharmacodynamic mechanisms involved. CONCLUSIONS: The development of a systematic therapeutic plan for patients with OCD and comorbid catatonia includes: the fine-tuning of the antiobsessional treatment; management of comorbid disorders that may engender catatonia; prompt discontinuation, and subsequent slow reintroduction of drugs deemed to trigger toxic reactions or to worsen comorbid disorders and, ultimately, the catatonia; and the implementation of specific anticatatonia measures. 相似文献