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1.
Environ Res ; 258: 119413, 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38876422

RESUMO

Frequent detection of terbutaline in wastewater highlights its potential risks to human health associated in the environment. Exposure to terbutaline through contaminated water sources or food chain have adverse effects to human health. This work emphasized on the removal of terbutaline from wastewater using adsorption technology. Mechanochemically synthesized [Cu(INA)2] metal-organic frameworks (MOFs) and its magnetic composite ([Cu(INA)2]-MOF@Fe3O4) are designed with higher specific surface areas and tailored features to accommodate the molecular size and structure of terbutaline. Thus, batch experiment has been conducted using the [Cu(INA)2]-MOF and [Cu(INA)2]-MOF@Fe3O4 for the terbutaline adsorption. The adsorption efficiency achieved by the MOFs was 91.8% and 99.3% for the Cu(INA)2]-MOF and [Cu(INA)2]-MOF@Fe3O4 respectively. The optimum for the adsorption study included terbutaline concentration of 40 mg/L, adsorbent dose of 5 mg/L, pH of 11, temperature of 25 °C and equilibrium time of 40 min. The kinetics and isotherms have been described by pseudo-second order and Langmuir models, while the thermodynamics revealed the exothermic and spontaneous nature of the process. The promising performance of the MOFs is manifested on the ease of regeneration and reusability, achieving adsorption efficiency of 85.0% and 94.7% by the Cu(INA)2]-MOF and [Cu(INA)2]-MOF@Fe3O4, respectively at five consecutive cycles. The higher performance of the MOFs demonstrates their excellent potentialities for the terbutaline adsorption from the aqueous solution.

2.
Plast Reconstr Surg Glob Open ; 12(5): e5761, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38706466

RESUMO

Background: Plastic and reconstructive surgery services need to be improved in developing African countries. Research and article publications from those countries are limited. This review was conducted to identify published articles from Sudan in the area of plastic and reconstructive surgery. Methods: This review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines. The Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines were used for the preparation of this systematic review. A comprehensive systematic search was performed using PubMed, ScienceDirect, and Web of Science databases. Articles published in Sudan, specifically in the area of plastic and reconstructive surgery, and written in English were included in this review. Results: The total number of articles that fulfilled the inclusion criteria was 23. The articles were written from 1969 to 2023. Only two articles were published in the 20th century. The most common study type was a retrospective study of eight articles, and the most common study area was Khartoum Teaching Hospital. Regarding the publishing journals, the number of subscription journals was six (30%), whereas open access was 17 (70%). Conclusion: This review demonstrates the lack of articles published on plastic surgery in Sudan. Further investigation is needed to determine the challenges and problems associated with possible clarifications.

3.
Metabolites ; 13(4)2023 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-37110196

RESUMO

Commiphora gileadensis L. is an important endangered medicinal plant that belongs to the family Burseraceae. In this study, C. gileadensis callus culture was established successfully using mature leaves as explants cultured on Murashige and Skoog (MS) media supplemented with 24.50 µM of indole butyric acid (IBA) and 2.22 µM 6-Benzylaminopurine (BAP) (callus induction media). The obtained callus was maintained on MS medium supplemented with 16.11 µM naphthalene acetic acid (NAA) in combination with 6.66 µM BAP, which resulted in a substantial increase in callus fresh and dry weights. The cell suspension culture was established successfully using liquid callus induction media supplemented with 3.0 mg·L-1 proline. Thereafter, the chemical constituents of different C. gileadensis methanolic extracts (callus, cell suspension, leaves, and seeds) were profiled, and their cytotoxic and antimicrobial properties were investigated. The LC-MS GNPS analyses were applied for chemical profiling of the methanolic plant extracts, and several natural products were identified, including flavonols, flavanones, and flavonoids glycosides, with two unusual families that included puromycin, 10-hydroxycamptothecin, and justicidin B. The methanolic extracts have shown selective antimicrobial and cytotoxic properties against different microbes and cancer cell lines. For instance, leaf extract showed the highest zone of inhibition for Staphylococcus aureus, while cell suspension culture was effective against Staphylococcus epidermidis and Staphylococcus aureus. All extracts showed selective activity against A549 cell lines for the cytotoxicity assay, while the leaf extract had a broad cytotoxic effect against all tested cell lines. This study revealed that C. gileadensis callus and cell suspension cultures can be employed to increase the in vitro formation of biologically active compounds that may have cytotoxicity and antibacterial action against different cancer cell lines and bacterial species. Further studies are required to isolate and identify such constituents that corroborate the observed activities.

4.
Artigo em Inglês | MEDLINE | ID: mdl-36078492

RESUMO

Background: The knee joint is one of the most important joints in terms of its functions of providing great stability, movement and weight bearing. Among the contributors to knee joint stability, there is the anterior cruciate ligament (ACL). Kinesiophobia is said to be the fear of movement or the fear of re-injury. Kinesiophobia is the most extreme form of fear of movement, and it is defined as an excessive, irrational, and debilitating fear of physical movement and activity resulting from a feeling of vulnerability to painful injury or re-injury. Aim: To estimate the prevalence and effect of kinesiophobia among patients with ACL reconstruction in the Aseer region, in southern Saudi Arabia. Methodology: A descriptive cross-sectional approach was used involving those patients who underwent ACL reconstruction surgery in Aseer Central Hospital during the period of October 2017 to October 2019. The Tampa Scale for Kinesiophobia (TSK) and ACL-Return to Sport after Injury (ACL-RSI) scale were used to determine kinesiophobia and the readiness to return to sport after ACL injury or reconstructive surgery. Result: The research included 130 ACL reconstruction patients with ages ranging from 18 to 45 years with a mean age of 27.2 + 7.5 years. More than 97% of the participants were males. In 67.7% of the cases, the right leg was affected. A total of 10.8% of the patients recorded a low level of kinesiophobia, while only 6.9% recorded a high level. Conclusions: In conclusion, the study revealed that among patients who underwent ACL reconstruction, kinesiophobia was at a moderate level. Kinesiophobia was recorded more among middle-aged patients who waited a long time from the onset of injury until the ACL reconstruction surgery time.


Assuntos
Lesões do Ligamento Cruzado Anterior , Reconstrução do Ligamento Cruzado Anterior , Relesões , Adolescente , Adulto , Lesões do Ligamento Cruzado Anterior/epidemiologia , Lesões do Ligamento Cruzado Anterior/cirurgia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Volta ao Esporte , Adulto Jovem
5.
Mediators Inflamm ; 2018: 8206983, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30116153

RESUMO

Pemphigus foliaceus (PF) is a rare autoimmune skin disease caused by anti-Dsg1 pathogenic autoantibodies. It is considered as a Th2-mediated disease. Likewise, Th17 cells were recently described in the pathogenesis of the disease but their role is still unclear. We aimed to unravel the eventual implication of the IL23/Th17 pathway in the development of PF. A case-control study was conducted on 115 PF patients and 201 healthy controls using PCR-RFLP and AS-PCR methods. SNPs in IL23R, RORγt, IL17A, IL17F, IL17AR, TNFa, and STAT3 genes were genotyped. mRNA expression of IL23R and RORγt was evaluated using Q-PCR. The frequency of circulating Th17 cells was analyzed by flow cytometry. Genetic associations between IL23R>rs11209026, IL17A>rs3748067, IL17F>rs763780, and TNFa>rs1800629 and the susceptibility to PF were reported. Moreover, we revealed a significant increased frequency of circulating CD4+IL17+ cells as well as higher mRNA levels of RORγt and IL23R in PBMCs of patients. However, no significant increase of RORγt and IL23R mRNA expression was observed in lesional skin biopsies. In spite of the little size of specimens, our results provide converging arguments for the contribution of the IL23/Th17 pathway in the pathogenesis of PF.


Assuntos
Interleucina-23/metabolismo , Pênfigo/imunologia , Células Th17/imunologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia , Estudos de Casos e Controles , Feminino , Citometria de Fluxo , Frequência do Gene , Genótipo , Humanos , Interleucina-17/genética , Interleucina-17/metabolismo , Interleucina-23/genética , Masculino , Pessoa de Meia-Idade , Razão de Chances , Polimorfismo de Nucleotídeo Único , Estudos Retrospectivos , Tunísia , Adulto Jovem
6.
Am J Respir Cell Mol Biol ; 58(5): 658-667, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29100477

RESUMO

Hyperproliferative endothelial cells (ECs) play an important role in the pathogenesis of pulmonary arterial hypertension (PAH). Anoctamin (Ano)-1, a calcium-activated chloride channel, can regulate cell proliferation and cell cycle in multiple cell types. However, the expression and function of Ano1 in the pulmonary endothelium is unknown. We examined whether Ano1 was expressed in pulmonary ECs and if altering Ano1 activity would affect EC survival. Expression and localization of Ano1 in rat lung microvascular ECs (RLMVECs) was assessed using immunoblot, immunofluorescence, and subcellular fractionation. Cell counts, flow cytometry, and caspase-3 activity were used to assess changes in cell number and apoptosis in response to the small molecule Ano1 activator, Eact. Changes in mitochondrial membrane potential and mitochondrial reactive oxygen species (mtROS) were assessed using 5,5',6,6'-tetrachloro-1,1',3,3'-tetraethylbenzimidazolylcarbocyanine, iodide (mitochondrial membrane potential dye) and mitochondrial ROS dye, respectively. Ano1 is expressed in RLMVECs and is enriched in the mitochondria. Activation of Ano1 with Eact reduced RLMVEC counts through increased apoptosis. Ano1 knockdown blocked the effects of Eact. Ano1 activation increased mtROS, reduced mitochondrial membrane potential, increased p38 phosphorylation, and induced release of apoptosis-inducing factor. mtROS inhibition attenuated Eact-mediated p38 phosphorylation. Pulmonary artery ECs isolated from patients with idiopathic PAH (IPAH) had higher expression of Ano1 and increased cell counts compared with control subjects. Eact treatment reduced cell counts in IPAH cells, which was associated with increased apoptosis. In summary, Ano1 is expressed in lung EC mitochondria. Activation of Ano1 promotes apoptosis of pulmonary ECs and human IPAH-pulmonary artery ECs, likely via increased mtROS and p38 phosphorylation, leading to apoptosis.


Assuntos
Anoctamina-1/agonistas , Apoptose/efeitos dos fármacos , Benzamidas/farmacologia , Proliferação de Células/efeitos dos fármacos , Células Endoteliais/efeitos dos fármacos , Pulmão/irrigação sanguínea , Transdução de Sinais/efeitos dos fármacos , Tiazóis/farmacologia , Proteínas Quinases p38 Ativadas por Mitógeno/metabolismo , Animais , Anoctamina-1/metabolismo , Estudos de Casos e Controles , Hipóxia Celular , Células Cultivadas , Células Endoteliais/enzimologia , Células Endoteliais/patologia , Hipertensão Pulmonar Primária Familiar/enzimologia , Hipertensão Pulmonar Primária Familiar/patologia , Humanos , Mitocôndrias/efeitos dos fármacos , Mitocôndrias/enzimologia , Mitocôndrias/patologia , Proteínas de Neoplasias/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Ratos , Espécies Reativas de Oxigênio/metabolismo
7.
J Mal Vasc ; 39(4): 270-3, 2014 Jul.
Artigo em Francês | MEDLINE | ID: mdl-24908418

RESUMO

Activated proteinC resistance is a frequent prothrombotic abnormality. In most cases it is due to factorV Leiden mutation by nucleotide G1691A substitution. This recently described thrombophilic defect of activated proteinC resistance has been postulated to be implicated in the pathogenesis of idiopathic intracranial hypertension (IIH). We report a case of factorV Leiden mutation in association with IIH and their likely link and implication in the management of IIH.


Assuntos
Resistência à Proteína C Ativada/genética , Fator V/genética , Pseudotumor Cerebral/etiologia , Acetazolamida/uso terapêutico , Resistência à Proteína C Ativada/complicações , Isquemia Encefálica/etiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Pseudotumor Cerebral/tratamento farmacológico , Tromboflebite/etiologia
8.
Genet Mol Res ; 12(4): 5851-7, 2013 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-24301954

RESUMO

Most studies have used in vitro systems to test inflammatory responses of nanoparticles; these may not reflect the real biological response of body organs. In fact, certain nanoparticles have provoked opposite effects under in vitro and in vivo conditions. Current understanding of the biocompatibility of gold nanoparticles is controversial. We studied the acute (1 day) and sub-chronic (5 days) effects of gold nanoparticles (10 and 50 nm in diameter) on expression of interleukin-1 beta (IL-1ß), IL-6 and tumor necrosis factor alpha (TNF-α) in rat liver. Real-time PCR analysis showed that gold nanoparticles of both sizes significantly increased cytokine gene expression on day 1; this had subsided by day 5. The 50-nm gold nanoparticle produced more severe inflammation than the smaller gold nanoparticle. These findings indicate a possible biocompatibility of medium-sized gold nanoparticles, as they caused only a transient increase in proinflammatory cytokines, followed by normalization during sub-chronic repeated exposure.


Assuntos
Interleucina-1beta/metabolismo , Interleucina-6/metabolismo , Fígado/metabolismo , Nanopartículas Metálicas/efeitos adversos , Fator de Necrose Tumoral alfa/metabolismo , Animais , Ouro/química , Ouro/farmacologia , Inflamação/induzido quimicamente , Inflamação/metabolismo , Interleucina-1beta/genética , Interleucina-6/genética , Fígado/efeitos dos fármacos , Masculino , Ratos , Ratos Wistar , Fator de Necrose Tumoral alfa/genética
9.
Neurochirurgie ; 59(4-5): 198-200, 2013.
Artigo em Francês | MEDLINE | ID: mdl-24367801

RESUMO

Epilepsy has been rarely reported in patients with neurofibromatosis type 1 (formally known as von Recklinghausen disease), which may occur in 3 to 6% of cases. This condition is generally related to neuronal migration anomalies or cortical malformations. We report a case of temporal epilepsy secondary to temporal meningocele due to sphenoidal dysplasia in a patient who presented with neurofibromatosis type 1 and also discuss this association.


Assuntos
Epilepsia do Lobo Temporal/etiologia , Meningocele/patologia , Neurofibromatose 1/patologia , Disfonia , Epilepsia do Lobo Temporal/diagnóstico , Humanos , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/diagnóstico , Meningocele/complicações , Neurofibromatose 1/complicações , Tomografia Computadorizada por Raios X , Adulto Jovem
10.
J Eur Acad Dermatol Venereol ; 27(3): e271-5, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22738420

RESUMO

BACKGROUND: Reactive oxygen species play a key role in the development of many dermatological disorders. OBJECTIVE: The purpose of this study is to examine the lipid peroxidation, protein oxidation and antioxidative profile in Tunisian pemphigus foliaceus (PF) patients. METHODS: Malondialdehyde (MDA), conjugated dienes (CD), protein thiol levels, catalase (CAT) and superoxide dismutase (SOD) activities were evaluated in skin biopsies of 13 patients compared to biopsies of 7 healthy controls. RESULTS: Oxidative stress was confirmed in these three types of patient biopsies as compared to controls. Thus, MDA, CD levels and catalase CAT and SOD activities were significantly increased in lesional, perilesional and normal biopsies of PF patients than in those of control subjects. Protein oxidative was confirmed by lower levels of protein thiols in lesional, perilesional and normal biopsies than in control's biopsies. Otherwise, in patients, a significant rise of these biomarkers was observed in lesional and perilesional biopsies compared with normal biopsies. CONCLUSION: This study shows that oxidative stress could be involved in the pathogenesis of PF by the spread of skin lesions and/or by the increase in auto-antibodies' reactivity.


Assuntos
Biomarcadores/metabolismo , Epiderme/metabolismo , Estresse Oxidativo , Pênfigo/metabolismo , Biópsia , Estudos de Casos e Controles , Catalase/metabolismo , Epiderme/enzimologia , Epiderme/patologia , Humanos , Malondialdeído/metabolismo , Pênfigo/enzimologia , Pênfigo/patologia , Compostos de Sulfidrila/metabolismo , Superóxido Dismutase/metabolismo , Tunísia
11.
Hum Immunol ; 74(1): 104-9, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23073295

RESUMO

Pemphigus foliaceus (PF) is an autoimmune blistering skin disease that partly results from genetic factors, especially from human leucocyte antigen (HLA) class II genes. Several data have reported the involvement of microsatellite (STR) markers across different regions of the HLA in many auto-immune diseases. To test the hypothesis of the existence of a major HLA haplotype predisposing to PF, we analyzed six polymorphisms of microsatellite loci at 6p21.3-21.4 spanning HLA: D6S291, D6S273, TNFa, MICA, D6S265 and D6S276 in 81 PF patients compared to 123 healthy individuals recruited from the south of Tunisia. In this study, after Bonferroni's correction, 3 STR alleles from the TNFa locus were associated with the disease: the allele TNFa(∗)2 (p(c) = 4.2×10(-6)) and, at a lower level, the TNFa(∗)5 (p(c) = 0.014) as susceptibility alleles and TNFa(∗)6 (p(c) = 0.014) as protective ones. Furthermore, the expression of the TNFa(∗)2/TNFa(∗)5 genotype seem to confer susceptibility to PF (p = 0.00001, OR = 11.25). Interestingly, no significant LD was found between TNFa2/TNFa5 alleles and DRB1(∗)03/DRB1(∗)04 alleles. However, the multivariant regression analysis indicates that both the HLA class II and the TNFa alleles remained significant (p < 0.001). Although, these findings rejected our hypothesis on the existence of HLA susceptibility haplotype, they assessed the role of TNFa loci. Accordingly, TNFa seem to contribute to the aethiopathogenesis of Tunisian endemic PF may be by the induction of a high TNFα production which is known to enhance the autoimmune cascade of the disease.


Assuntos
Cromossomos Humanos Par 6 , Cadeias HLA-DRB1/genética , Repetições de Microssatélites , Pênfigo/genética , Polimorfismo Genético/imunologia , Fator de Necrose Tumoral alfa/genética , Adulto , Alelos , Estudos de Casos e Controles , Feminino , Loci Gênicos , Predisposição Genética para Doença , Cadeias HLA-DRB1/imunologia , Haplótipos , Humanos , Desequilíbrio de Ligação , Masculino , Pênfigo/imunologia , Fator de Necrose Tumoral alfa/imunologia , Tunísia
12.
Hum Immunol ; 73(7): 732-5, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22561236

RESUMO

Crohn's disease (CD), ulcerative colitis (UC), systemic lupus erythematosus (SLE) and autoimmune polyglandular syndromes (APS) are autoimmune diseases (ADs) that may share common susceptibility pathways. We examined ribonucleo-protein, polypyrimidine tract-binding protein (PTB)-binding 2 (RAVER2) loci for these diseases in a cohort of 39 CD cases, 67 UC cases, 93 SLE cases, 60 APS cases and 162 healthy control subjects of Tunisian origin. We genotyped 3 SNPs of RAVER2 (rs2780814, rs1333739 and rs2780889) and evaluated it genetic association with each ADs, using X2-test. For each association, odds ratio (OR) and 95% CI were calculated. We show that rs2780814 is significantly associated with UC (P = 0.00016, P(corr) = 0.00048, OR = 3.66 (1.82; 7.34)). We also observed a trend of possible association to SLE (P = 0.023, P(corr) = 0.69, OR = 2.19 (1.1; 4.36)). None of these RAVER2 SNPs were associated with CD and APS susceptibility. These findings establish RAVER2 as a new UC genetic susceptibility factor and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between ADs suggesting different immunopathological roles of RAVER2 in these diseases.


Assuntos
Colite Ulcerativa/genética , Doença de Crohn/genética , Ribonucleoproteínas Nucleares Heterogêneas/genética , Lúpus Eritematoso Sistêmico/genética , Adulto , Estudos de Casos e Controles , Colite Ulcerativa/imunologia , Doença de Crohn/imunologia , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Tunísia
13.
Gynecol Obstet Fertil ; 39(1): e27-30, 2011 Jan.
Artigo em Francês | MEDLINE | ID: mdl-21183382

RESUMO

The inflammatory myofibroblastic tumour has clinical, biological or histological features sometimes misleading with a septic condition. Presenting symptoms are variable and arising circumstances remain obscure. We report three cases occurring in a postpartum context. The first patient, a 28-year-old female, had left psoitis with a sepsis the first day postpartum in relation with an inflammatory myofibroblastic tumour of the meso-ovary. The second patient, a 40-year-old woman, had a hepatic inflammatory myofibroblastic tumour revealed by a ruptured sub-capsular haematoma of the liver in the forth day postpartum. The third patient, a 32-year-old woman, had a pulmonary inflammatory myofibroblastic tumour, diagnosed 5 months after a delivery and which recurred 10 years after surgical treatment. These cases illustrate the difficulty to diagnose inflammatory myofibroblastic tumour, particularly in postpartum.


Assuntos
Granuloma de Células Plasmáticas , Transtornos Puerperais , Adulto , Feminino , Granuloma de Células Plasmáticas/diagnóstico , Granuloma de Células Plasmáticas/etiologia , Humanos , Transtornos Puerperais/diagnóstico , Transtornos Puerperais/etiologia
14.
Ann Dermatol Venereol ; 137(10): 605-9, 2010 Oct.
Artigo em Francês | MEDLINE | ID: mdl-20932439

RESUMO

BACKGROUND: Basal cell carcinoma (BCC) occurs frequently in young patients with xeroderma pigmentosum (XP). Because tumours are multiple and usually found on the face, alternatives to surgery are proposed. The purpose of this study was to evaluate the efficacy of cryosurgery for BCC in XP patients. PATIENTS AND METHODS: This was a retrospective study that included all instances of BCC occurring in XP patients treated by cryosurgery between January 2002 and October 2008. RESULTS: Forty-five cases of primary facial BCC and one case of relapsing BCC (16 on the cheeks, 11 on the nose, six on the face and five on the inner edge of the eye area) were treated by cryosurgery in 18 XP patients (average age: 18.7 years; sex ratio: 0.5). Mean carcinoma size was 10mm. Thirty-six tumours were nodular and 10 were nodular and ulcerated. Follow-up ranged from 16 to 60 months (mean: 30 months). Complications were rare. Cosmetic results were satisfactory. We noted 10 cases of hypopigmentation (21.7%) and one notch on the nose following treatment for recurrent BCC on a radiotherapy scar. Relapse occurred in one case (2.17%). CONCLUSION: Because of its simplicity, its good safety, its sparing of skin and its reliability of oncological outcome, cryosurgery is the treatment of choice for CBC in XP patients.


Assuntos
Carcinoma Basocelular/cirurgia , Criocirurgia/métodos , Neoplasias Faciais/cirurgia , Neoplasias de Cabeça e Pescoço/cirurgia , Neoplasias Cutâneas/cirurgia , Xeroderma Pigmentoso/cirurgia , Adolescente , Adulto , Carcinoma Basocelular/diagnóstico , Criança , Neoplasias Faciais/diagnóstico , Feminino , Neoplasias de Cabeça e Pescoço/diagnóstico , Humanos , Masculino , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/cirurgia , Reoperação , Estudos Retrospectivos , Neoplasias Cutâneas/diagnóstico , Xeroderma Pigmentoso/diagnóstico , Adulto Jovem
15.
Rev Neurol (Paris) ; 166(11): 935-9, 2010 Nov.
Artigo em Francês | MEDLINE | ID: mdl-20472258

RESUMO

INTRODUCTION: Tuberous sclerosis is an autosomal dominant inherited phakomatosis. It is associated with a wide variety of central nervous system abnormalities, but intracranial aneurysms are rare. CASE REPORT: We report a 34-year-old patient fulfilling the diagnostic criteria of tuberous sclerosis in association with intracranial aneurysm. DISCUSSION: This association has been reported in only 17 other cases of tuberous sclerosis. We discuss the etiopathogenic mechanisms, preferential localizations and the various therapeutic propositions.


Assuntos
Aneurisma Intracraniano/complicações , Esclerose Tuberosa/complicações , Adulto , Anticonvulsivantes/uso terapêutico , Aspirina/uso terapêutico , Carbamazepina/uso terapêutico , Doenças das Artérias Carótidas/complicações , Humanos , Aneurisma Intracraniano/tratamento farmacológico , Imageamento por Ressonância Magnética , Masculino , Inibidores da Agregação Plaquetária/uso terapêutico , Esclerose Tuberosa/tratamento farmacológico , Ácido Valproico/uso terapêutico
16.
Neurochirurgie ; 56(4): 297-302, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20416909

RESUMO

INTRODUCTION: Segmental neurofibromatosis 1 (segmental NF-1) is a rare genodermatosis caused by somatic mutations in the NF-1 gene. It consists of localized characteristic skin lesions. A serial study using magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) of a brain tumor in a 16-year-old patient with segmental NF-1 is reported. CASE REPORT: A 16-year-old boy with congenital dorsal scoliosis and segmental NF-1 was evaluated for bilateral optic atrophy. Neurological examination showed an isolated tetra pyramidal syndrome. The cerebral MRI showed a bilateral brain lesion involving the basal ganglia, optic pathways, temporal lobes, and the midbrain. Serial MRSs showed a decreased N-acetylaspartate (NAA)/creatine ratio and increased choline/creatine ratio. An increase in the myoinositol (MYO)/creatine ratio and the presence of a lipid/lactate peak were also recorded. A neuroimaging follow-up with MRI and MRS performed 2 years later showed similar findings. COMMENTS AND CONCLUSION: We describe an MRS study of a brain tumor in a patient with segmental NF-1 for the first time. The MRS study showed similar findings, described earlier in rare studies of patients with the classic form of NF-1. MRS is a noninvasive technique for detecting the presence of tumor tissue in the brain through its metabolic activity. MRS plays an important role in clinical studies and it can be used to differentiate malignant and nonmalignant brain lesions from normal brain tissue.


Assuntos
Neoplasias Encefálicas/patologia , Neurofibromatoses/patologia , Adolescente , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Química Encefálica/fisiologia , Neoplasias Encefálicas/metabolismo , Colina/metabolismo , Creatina/metabolismo , Humanos , Lactatos/metabolismo , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Masculino , Neurofibromatoses/metabolismo , Escoliose/complicações
17.
Br J Dermatol ; 162(4): 883-6, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20199544

RESUMO

Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A (XP-A) is characterized by the presence of neurological abnormalities in addition to cutaneous symptoms. In the present study, we report a particular family with XP-A in which some members showed an atypical clinical presentation, i.e. unexplained neurological abnormalities with discrete skin manifestations. Molecular investigation allowed identification of a novel XPA mutation and complete phenotype-genotype correlation for this new phenotypic expression of XP-A.


Assuntos
Doenças do Sistema Nervoso/genética , Proteína de Xeroderma Pigmentoso Grupo A/genética , Xeroderma Pigmentoso/genética , Adulto , Consanguinidade , Feminino , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Doenças do Sistema Nervoso/metabolismo , Linhagem , Fenótipo , Tunísia , Xeroderma Pigmentoso/metabolismo , Proteína de Xeroderma Pigmentoso Grupo A/metabolismo , Adulto Jovem
18.
Pathologica ; 101(3): 133-4, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19886550

RESUMO

Trichilemmoma is a benign cutaneous tumor that shows characteristics of differentiation similar to the outer hair sheath. We report the case of a woman presenting with a nodular tender mass of the back that was diagnosed as an isolated trichilemmoma. Several lines of evidence suggest that trichilemmoma should be considered in the differential diagnosis of any indistinct facial papule. This report documents a non-facial example of trichilemmoma. Atypical clinical appearance and localization of this neoplasm in our patient suggest that only histological findings are specific of this tumor.


Assuntos
Dorso/patologia , Doenças do Cabelo/patologia , Neoplasias Cutâneas/patologia , Feminino , Humanos , Pessoa de Meia-Idade
19.
Anal Chem ; 81(20): 8305-17, 2009 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-19775114

RESUMO

Matrix-assisted laser desorption/ionization (MALDI) is a new tool that can acquire the localization of various compounds, including peptides and proteins, directly from tissue sections. Despite the important developments recently performed in the field of MALDI imaging in tissue, the precise identification of compounds still needs improvement. We have developed N-terminal chemical derivatization strategies to improve tissue identification of proteins, including de novo sequencing performance. We have first focused on sulfonation agents, such as 4-SPITC and 3-SBASE. These two derivatizations were optimized to be performed directly on tissue sections. By adding a negative charge at the N-terminus of a tryptic digest peptide, we were able to generate a complete y fragment series directly from the tissue. Of these derivatizations, 3-SBASE has shown to be more efficient, as loss of the derivative group is one of the major fragmentation pathways for 4-SPITC. 3-SBASE was optimized so that the derivatization reaction could be automatically performed using an automatic microspotting device. It was then included in an automatic process that included automated trypsin digestion and matrix deposition. Derivatizations allowed the acquisition to be easily interpretable by MS(2) spectra, leading to very precise identification as well as easy manual reading of sequences for de novo sequencing. It was observed that only arginine-terminated peptides were observed after derivatization, likely due to the high gas-phase basicity of such peptides compared to those that are lysine-terminated. We also observed a stop in the y fragmentation series for peptides presenting a miscleavage. We have now begun to study a different derivatization using N-succinimidyloxycarbonylmethyl)tris(2,4,6-trimethoxyphenyl)phosphonium bromide (TMPP). This derivatization allows the orientating of a fragmentation toward a series of fragment ions, and thus it is independent of the presence of basic residues in the sequence. This derivatization can be performed at room temperature, which greatly facilitates the automation of the process. The TMPP derivatization therefore yields an advantageous new generation of derivatives suited for use in tissue.


Assuntos
Peptídeos/metabolismo , Proteínas/análise , Proteínas/química , Sequência de Aminoácidos , Animais , Biomarcadores/análise , Biomarcadores/química , Biomarcadores/metabolismo , Proteínas/metabolismo , Ratos , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz
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