Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 33
Filtrar
1.
J Family Med Prim Care ; 13(3): 984-989, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38736835

RESUMO

Introduction: The prostate is a gland belonging to the male reproductive system. Aging results in the dysfunction of the prostate that may present as inflammation, enlargement, and cancer. Additionally, the diseases of the prostate including cancers are slow in progression, and therefore, it is difficult to diagnose them early. Hence, it is increasingly important for physicians to recommend histopathological examination of the prostate gland to identify, manage, and treat prostate cancers. This study was conducted to assess prostate diseases among biopsy specimen collected from patients with signs of prostate diseases. Materials and Methods: This prospective study was conducted in the Department of Pathology, Deccan College of Medical Sciences, Owaisi Hospital, Hyderabad, between June 2012 and September 2014. All gross specimens (n = 300) of the prostate such as the needle biopsies of the prostate, transurethral resection of the prostate (TURP) chips, and excised specimens of the prostate were included in the study. Histopathological examinations of the biopsies were performed for nuclear size, chromatin material, nucleoli, membrane thickness, irregularity, cytoplasmic granularity, staining, and cell border conspicuity. The biopsies were also assessed for lobule formation, secretions, polymorphonuclear leukocytes, lymphocytes, macrophages, connective tissue stromal cells, their arrangements, and acellular connective tissue material. Results: Of 300 total prostatic biopsies performed, 56 (18.66%) were identified as inflammatory lesions of the prostate (prostatitis), 98 (32.66%) revealed benign prostatic lesions (benign prostatic hyperplasia (BPH)), 112 (37.33%) were identified as BPH with premalignant lesions, and 34 (11.33%) were revealed as malignant tumors of the prostate. Chronic prostatitis (67.85%) was the common inflammatory lesion. The majority (91.42%) revealed epithelial lesions compared to stromal lesions (08.58%). BPH was predominantly (28.00%) noticed among patients in the age group of 61-70 years. Prostatic intraepithelial neoplasia (PIN) was observed majorly (53.35%) in the age group of 61-70 years. Most of the prostatic cancers were identified as adenocarcinomas. However, three variants were also categorized as small cell carcinoma, signet ring cell carcinoma, and transitional cell carcinomas. Conclusions: The results reveal that prostatic adenocarcinomas are predominant among the study population. Additionally, prostatic diseases including cancer are commonly noticed among people belonging to the age group of 61-70 years. More than one-third of patients showed BPH with premalignant lesions, and a majority of the study population showed evidence of chronic prostatitis.

2.
BMC Res Notes ; 17(1): 111, 2024 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-38643202

RESUMO

OBJECTIVE: Mutational analysis of BCR::ABL1 kinase domain (KD) is a crucial component of clinical decision algorithms for chronic myeloid leukemia (CML) patients with failure or warning responses to tyrosine kinase inhibitor (TKI) therapy. This study aimed to detect BCR::ABL1 KD mutations in CML patients with treatment resistance and assess the concordance between NGS (next generation sequencing) and Sanger sequencing (SS) in detecting these mutations. RESULTS: In total, 12 different BCR::ABL1 KD mutations were identified by SS in 22.6% (19/84) of patients who were resistant to TKI treatment. Interestingly, NGS analysis of the same patient group revealed an additional four different BCR::ABL1 KD mutations in 27.4% (23/84) of patients. These mutations are M244V, A344V, E355A, and E459K with variant read frequency below 15%. No mutation was detected in 18 patients with optimal response to TKI therapy. Resistance to TKIs is associated with the acquisition of additional mutations in BCR::ABL1 KD after treatment with TKIs. Additionally, the use of NGS is advised for accurately determining the mutation status of BCR::ABL1 KD, particularly in cases where the allele frequency is low, and for identifying mutations across multiple exons simultaneously. Therefore, the utilization of NGS as a diagnostic platform for this test is very promising to guide therapeutic decision-making.


Assuntos
Leucemia Mielogênica Crônica BCR-ABL Positiva , Humanos , Estudos de Coortes , Proteínas de Fusão bcr-abl/genética , Proteínas de Fusão bcr-abl/uso terapêutico , Inibidores de Proteínas Quinases/farmacologia , Inibidores de Proteínas Quinases/uso terapêutico , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Mutação , Resistencia a Medicamentos Antineoplásicos/genética
3.
Genet Res (Camb) ; 2022: 5870092, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36160031

RESUMO

Background: Glycogen storage disease type 1a (GSD1a) is a rare autosomal recessive metabolic disorder characterized by hypoglycaemia, growth retardation, lactic acidosis, hepatomegaly, hyperlipidemia, and nephromegaly. GSD1a is caused by a mutation in the G6PC gene encoding glucose-6-phosphatase (G6Pase); an enzyme that catalyses the hydrolysis of glucose-6-phosphate (G6P) to phosphate and glucose. Objective: To elaborate on the clinical findings, biochemical data, molecular genetic analysis, and short-term prognosis of 13 GSD1a patients in Malaysia. Methods: The information about 13 clinically classified GSD1a patients was retrospectively studied. The G6PC mutation analysis was performed by PCR-DNA sequencing. Results: Patients were presented with hepatomegaly (92%), hypoglycaemia (38%), poor weight gain (23%), and short stature (15%). Mutation analysis revealed nine heterozygous mutations; eight previously reported mutations (c.155 A > T, c.209 G > A, c.226 A > T, c.248 G > A, c.648 G > T, c.706 T > A, c.1022 T > A, c.262delG) and a novel mutation (c.325 T > C). The most common mutation found in Malaysian patients was c.648 G > T in ten patients (77%) of mostly Malay ethnicity, followed by c.248 G > A in 4 patients of Chinese ethnicity (30%). A novel missense mutation (c.325 T > C) was predicted to be disease-causing by various in silico software. Conclusions: The establishment of G6PC molecular genetic testing will enable the detection of presymptomatic patients, assisting in genetic counselling while avoiding the invasive methods of liver biopsy.


Assuntos
Doença de Depósito de Glicogênio , Hipoglicemia , Glucose , Glucose-6-Fosfatase/genética , Glucose-6-Fosfatase/metabolismo , Glucose-6-Fosfato , Doença de Depósito de Glicogênio/genética , Doença de Depósito de Glicogênio Tipo I , Hepatomegalia , Humanos , Malásia/epidemiologia , Mutação , Fosfatos , Estudos Retrospectivos
4.
Methods Mol Biol ; 2549: 379-398, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34505269

RESUMO

Genetically encoded fluorescent biosensors (GEFBs) enable researchers to visualize and quantify cellular processes in live cells. Induced pluripotent stem cells (iPSCs) can be genetically engineered to express GEFBs via integration into the Adeno-Associated Virus Integration Site 1 (AAVS1) safe harbor locus. This can be achieved using CRISPR/Cas ribonucleoprotein targeting to cause a double-strand break at the AAVS1 locus, which subsequently undergoes homology-directed repair (HDR) in the presence of a donor plasmid containing the GEFB sequence. We describe an optimized protocol for CRISPR/Cas-mediated knock-in of GEFBs into the AAVS1 locus of human iPSCs that allows puromycin selection and which exhibits negligible off-target editing. The resulting iPSC lines can be differentiated into cells of different lineages while retaining expression of the GEFB, enabling live-cell interrogation of cell pathway activities across a diversity of disease models.


Assuntos
Técnicas Biossensoriais , Células-Tronco Pluripotentes Induzidas , Sistemas CRISPR-Cas/genética , Diferenciação Celular/genética , Engenharia Genética , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo
5.
J Biomol Struct Dyn ; 40(19): 9067-9080, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34042018

RESUMO

The stimulus to the modeling of enzyme functioning sites comes from their potential to give insight into the natural enzyme's mechanistic pathways, ascertain the role of that different metal ion in the active site and construct better catalysts motivated by nature. The presence of metal ion leads to the activation of molecular oxygen in the metalloenzymes. The metalloenzymes such as the catechol oxidase (CO) enzyme that oxidizes the catechol to corresponding quinones which eventually protect damage tissues from plant and pathogen. Thus, the design and characterization of catalysts used as selectively and efficiently oxidation reactions have grown to be unique challenges for modern inorganic chemists. In this work, two novel tetranuclear complexes (1 and 2) have been synthesized in excellent yield. The complexes were characterized using various spectroscopic techniques such as FTIR, UV-Visible and PXRD pattern. The structure of 1 and 2 was elucidated by SC-XRD (single crystal X-ray diffraction) analysis. The magnetic study reveals the presence of the antiferromagnetic nature of 1 and 2. Both 1 and 2 shows a very good catecholase-like activity by oxidizing the catechol to analogous quinone in methanolic solution. Thus, a structure-activity relationship can further help us design other substituted tetranuclear complexes with enhanced catecholase like activity.Communicated by Ramaswamy H. Sarma.


Assuntos
Catecol Oxidase , Cobre , Estrutura Molecular , Cobre/química , Catecol Oxidase/química , Catecol Oxidase/metabolismo , Cristalografia por Raios X , Catálise
6.
Materials (Basel) ; 14(8)2021 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-33920865

RESUMO

Thermal performance, combustibility, and fire propagation of fly ash-metakaolin (FA-MK) blended geopolymer with the addition of aluminum triphosphate, ATP (Al(H2PO4)3), and monoaluminium phosphate, MAP (AlPO4) were evaluated in this paper. To prepare the geopolymer mix, fly ash and metakaolin with a ratio of 1:1 were added with ATP and MAP in a range of 0-3% by weight. The fire/heat resistance was evaluated by comparing the residual compressive strengths after the elevated temperature exposure. Besides, combustibility and fire propagation tests were conducted to examine the thermal performance and the applicability of the geopolymers as passive fire protection. Experimental results revealed that the blended geopolymers with 1 wt.% of ATP and MAP exhibited higher compressive strength and denser geopolymer matrix than control geopolymers. The effect of ATP and MAP addition was more obvious in unheated geopolymer and little improvement was observed for geopolymer subjected to elevated temperature. ATP and MAP at 3 wt.% did not help in enhancing the elevated-temperature performance of blended geopolymers. Even so, all blended geopolymers, regardless of the addition of ATP and MAP, were regarded as the noncombustible materials with negligible (0-0.1) fire propagation index.

7.
J Biomol Struct Dyn ; 39(11): 4037-4050, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32496965

RESUMO

Currently, most pathogens influencing a number of epidemics outline a notable warning to human health. It has pushed researchers to design new antimicrobial drugs using transition metals that are studied in proceeding fewer years for their antimicrobial properties. Henceforth, in this work, two mononuclear complexes [Imz-H][Fe(pda)2]⋅1⋅3H2O (1) and [Mn(Imz)6]⋅2Cl-⋅2H2O (2) [Imz = imidazole and H2pda = 2,6 pyridine dicarboxylic acid] are isolated and characterized systematically by various spectral and single-crystal XRD studies. The antimicrobial activity of the present hexadentate complexes of Fe(III) and Mn(II) against Gram-positive as well as Gram-negative bacteria is also assessed. Augmented activity against standard isolates of Staphylococcus aureus with a minimum inhibitory concentration (MIC) is observed. Similar activity was also observed toward Escherichia coli, Klebsiella pneumoniae and Listeria monocytogenes. 1 and 2 have excellent bactericidal activity, and no resistant mutant for S. aureus was seen. The compound also unveiled antibiofilm activity and was capable to disrupt significantly the pre-formed biofilms and this property was confirmed by XTT assay experiment. The MTT assay data indicate that 1 and 2 can be used as anticancer agents toward the RAW 64.7 (human macrophage/monocyte) cell line. Further, the molecular docking study reveals that the role of imidazole is very important in the biological activity of these complexes. Moreover, our results suggest that 1 and 2 with its effective anti-microbial, anti-biofilm and cytotoxicity activity can be used to treat bacterial and fungal infections and could be appraised clinically for further applications.Communicated by Ramaswamy H. Sarma.


Assuntos
Anti-Infecciosos , Listeria monocytogenes , Antibacterianos/farmacologia , Anti-Infecciosos/farmacologia , Compostos Férricos , Humanos , Imidazóis/farmacologia , Testes de Sensibilidade Microbiana , Simulação de Acoplamento Molecular , Staphylococcus aureus
8.
J Clin Lab Anal ; 34(6): e23254, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32141626

RESUMO

BACKGROUND: Serum protein electrophoresis (SPE) is a widely used laboratory technique to diagnose patients with multiple myeloma (MM) and other disorders related to serum protein. In patients with MM, abnormal monoclonal protein can be detected by SPE and further characterized using immunofixation electrophoresis (IFE). There are several semi-automated agarose gel-based systems available commercially for SPE and IFE. In this study, we sought to evaluate the analytical performance of fully automated EasyFix G26 (EFG26) and semi-automated HYDRASYS 2 SCAN (H2SCAN) for both SPE and IFE. METHODS: Both instruments were operated according to manufacturer's instructions. Samples used include a commercially available normal control serum (NCS) and patients' specimens. The following were evaluated: precision and comparison studies for SPE, and reproducibility and comparison studies for IFE. Statistical analyses were performed using Microsoft Excel. RESULTS: For SPE repeatability study, our results showed that EFG26 has higher coefficient of variation (%CV) compared with H2SCAN for both samples except for monoclonal component with %CV of 0.97% and 1.18%, respectively. Similar results were obtained for SPE reproducibility study except for alpha-1 (4.16%) and beta (3.13%) fractions for NCS, and beta fractions (5.36%) for monoclonal sample. Subsequently, reproducibility for IFE was 100% for both instruments. Values for correlation coefficients between both instruments ranged from 0.91 to 0.98 for the five classic bands. CONCLUSION: Both instruments demonstrated good analytical performance characterized by high precision, reproducibility and correlation.


Assuntos
Eletroforese das Proteínas Sanguíneas/instrumentação , Proteínas Sanguíneas/análise , Imunoeletroforese/instrumentação , Automação Laboratorial , Eletroforese das Proteínas Sanguíneas/métodos , Proteínas Sanguíneas/imunologia , Humanos , Imunoeletroforese/métodos , Proteínas do Mieloma/análise , Reprodutibilidade dos Testes
9.
Indian J Otolaryngol Head Neck Surg ; 71(Suppl 2): 1351-1356, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31750176

RESUMO

(1) To correlate the findings of high resolution computed tomography (HRCT) scans with operative findings in chronic otitis media (attico antral disease). (2) To assess the role of HRCT in chronic otitis media (attico antral disease). This prospective observational study undertaken at a tertiary level teaching hospital included 50 patients of chronic otitis media (attico antral disease) who underwent pre-operative HRCT scanning and the findings were compared with the operative findings and correlation between the two was assessed with appropriate statistical methods. HRCT findings correlated well for the status of malleus and incus, facial nerve canal, lateral semicircular canal, and sinus plate but were less accurate for stapes and tegmen plate. As for disease extent and prediction of cholesteatoma the degree of correlation was site dependent being greater in mastoid air cell system and epitympanum and lesser in mesotympanum and hypotympanum. HRCT despite of its value in management of chronic otitis media has its drawbacks and limitations. CT's accuracy of prediction in some aspects of the disease varies with the site of pathology and this point must always be kept in mind by the operating surgeon. We suggest that each health care centre should establish their own correlative indices for HRCT temporal bone imaging in COM. HRCT cannot be entirely relied upon in management of chronic otitis media patients. However against the backdrop of improved radiological skills in interpreting temporal bone ct images, improved CT machines and importantly the growing concern over medicolegal issues, the role of pre operative CT scan in COM is much more than what was thought previously. Undoubtedly, it is a very useful 'aid' to management BUT a well-trained, experienced and alert surgeon is the key for an accurate diagnosis and successful management of chronic otitis media (attico-antral disease).

10.
Hum Gene Ther ; 30(11): 1349-1360, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31373227

RESUMO

Safe delivery of CRISPR/Cas endonucleases remains one of the major barriers to the widespread application of in vivo genome editing. We previously reported the utility of adeno-associated virus (AAV)-mediated CRISPR/Cas genome editing in the retina; however, with this type of viral delivery system, active endonucleases will remain in the retina for an extended period, making genotoxicity a significant consideration in clinical applications. To address this issue, we have designed a self-destructing "kamikaze" CRISPR/Cas system that disrupts the Cas enzyme itself following expression. Four guide RNAs (sgRNAs) were initially designed to target Streptococcus pyogenes Cas9 (SpCas9) and after in situ validation, the selected sgRNAs were cloned into a dual AAV vector. One construct was used to deliver SpCas9 and the other delivered sgRNAs directed against SpCas9 and the target locus (yellow fluorescent protein [YFP]), in the presence of mCherry. Both constructs were packaged into AAV2 vectors and intravitreally administered in C57BL/6 and Thy1-YFP transgenic mice. After 8 weeks, the expression of SpCas9 and the efficacy of YFP gene disruption were quantified. A reduction of SpCas9 mRNA was found in retinas treated with AAV2-mediated YFP/SpCas9 targeting CRISPR/Cas compared with those treated with YFP targeting CRISPR/Cas alone. We also show that AAV2-mediated delivery of YFP/SpCas9 targeting CRISPR/Cas significantly reduced the number of YFP fluorescent cells among mCherry-expressing cells (∼85.5% reduction compared with LacZ/SpCas9 targeting CRISPR/Cas) in the transfected retina of Thy1-YFP transgenic mice. In conclusion, our data suggest that a self-destructive "kamikaze" CRISPR/Cas system can be used as a robust tool for genome editing in the retina, without compromising on-target efficiency.


Assuntos
Sistemas CRISPR-Cas/genética , Edição de Genes , Retina/metabolismo , Animais , Sequência de Bases , Eletrorretinografia , Técnicas de Transferência de Genes , Células HEK293 , Humanos , Camundongos Endogâmicos C57BL , RNA Guia de Cinetoplastídeos/genética , Reprodutibilidade dos Testes , Retina/fisiologia , Tomografia de Coerência Óptica
11.
Orphanet J Rare Dis ; 14(1): 143, 2019 06 14.
Artigo em Inglês | MEDLINE | ID: mdl-31200731

RESUMO

BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate, leading to skeletal and other systemic impairments. Data on MPS IVA in Asian populations are scarce. METHODS: This is a multicentre descriptive case series of 21 patients comprising all MPS IVA patients in Malaysia. Mutational analysis was performed by PCR and Sanger sequencing of the GALNS gene in 17 patients. RESULTS: The patients (15 females and 6 males) had a mean age (± SD) of 15.5 (± 8.1) years. Mean age at symptom onset was 2.6 (± 2.1) years and at confirmed diagnosis was 6.9 (± 4.5) years. The study cohort included patients from all the main ethnic groups in Malaysia - 57% Malay, 29% Chinese and 14% Indian. Common presenting symptoms included pectus carinatum (57%) and genu valgum (43%). Eight patients (38%) had undergone surgery, most commonly knee surgeries (29%) and cervical spine decompression (24%). Patients had limited endurance with lower mean walking distances with increasing age. GALNS gene analysis identified 18 distinct mutations comprising 13 missense, three nonsense, one small deletion and one splice site mutation. Of these, eight were novel mutations (Tyr133Ser, Glu158Valfs*12, Gly168*, Gly168Val, Trp184*, Leu271Pro, Glu320Lys, Leu508Pro). Mutations in exons 1, 5 and 9 accounted for 51% of the mutant alleles identified. CONCLUSIONS: All the MPS IVA patients in this study had clinical impairments. A better understanding of the natural history and the clinical and genetic spectrum of MPS IVA in this population may assist early diagnosis, improve management and permit timely genetic counselling and prenatal diagnosis.


Assuntos
Mucopolissacaridose IV/genética , Mucopolissacaridose IV/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Condroitina Sulfatases/genética , Condroitina Sulfatases/metabolismo , Estudos de Coortes , Feminino , Humanos , Malásia , Masculino , Mucopolissacaridose IV/metabolismo , Adulto Jovem
13.
Drug Res (Stuttg) ; 68(6): 344-348, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29232753

RESUMO

The seed kernels of Sesamum indicum L. (family: Pedaliaceae) were extracted with ethanol and yield of components determined by Gas Chromatography/Mass Spectrometry (GC/MS). The free radical scavenging activities of ethanolic extract against1, 1-Diphenyl-2-picrylhydrazyl (DPPH) were determined by UV spectrophotometer at 517 nm. Phytochemical screening revealed the presence of numerous bioactive compounds including steroids, phenolic, terpenoids, fatty acids and different types of ester compounds. The ethanolic extract was purified and analyzed by GC MS.The prevailing compounds found in ethanolic extract were Carvacrol (0.04%),Sesamol (0.11%), 4-Allyl-2-methoxy-phenol(0.04%),Palmitic acid (1.08%), cis-9-Hexadecenal (85.40%), Lineoleoyl chloride (0.52%), Palmitic acid ß-monoglyceride (0.40%), Dihydro-aplotaxene (0.61%), Oleoyl chloride (1.11%), (+)-Sesamin (4.73%), 1,3-Benzodioxole, 5-[4-(1,3-benzodioxol-5-yloxy)tetrahydro-1 H,3 H-furo [3,4-c]furan-1-yl], [1 S-(1,3,4,6α.), (2.01%)], 6-Nitrocholest-5-en-3-yl acetate (0.22%), Ergost-5-en-3ß-ol (2.35%) and 24-Propylidenecholesterol (0.16%). The presence ofsaturated and unsaturated fatty acids in ethanolicextract justifies the use of this plant to treat many ailments in folk and traditional medicine. Ethanolic extract have shown significant antioxidant activity(IC50120.38±2.8 µg/ml). The presence of phenolic (Sesamol), lignin (Sesamin) compounds and unsaturated fatty acids are reported as possible contributor for antioxidantactivity of seed extract.


Assuntos
Antioxidantes/análise , Ácidos Graxos/análise , Extratos Vegetais/química , Extratos Vegetais/farmacologia , Óleos de Plantas/análise , Sementes/química , Sesamum/química , Antioxidantes/química , Antioxidantes/isolamento & purificação , Ácidos Graxos/química , Ácidos Graxos/isolamento & purificação , Cromatografia Gasosa-Espectrometria de Massas , Fenóis/análise , Fenóis/isolamento & purificação , Óleos de Plantas/química , Óleos de Plantas/isolamento & purificação , Solventes/química , Esteroides/análise , Esteroides/isolamento & purificação , Terpenos/análise , Terpenos/isolamento & purificação
14.
Rev. Soc. Bras. Med. Trop ; 50(2): 239-242, Mar.-Apr. 2017. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1041406

RESUMO

Abstract INTRODUCTION: This study aimed to develop a duplex endpoint PCR assay for rapid detection and differentiation of Leptospira strains. METHODS: Primers were designed to target the rrs (LG1/LG2) and ligB (LP1/LP2) genes to confirm the presence of the Leptospira genus and the pathogenic species, respectively. RESULTS: The assay showed 100% specificity against 17 Leptospira strains with a limit of detection of 23.1pg/µl of leptospiral DNA and sensitivity of 103 leptospires/ml in both spiked urine and water. CONCLUSIONS: Our duplex endpoint PCR assay is suitable for rapid early detection of Leptospira with high sensitivity and specificity.


Assuntos
DNA Bacteriano/isolamento & purificação , Reação em Cadeia da Polimerase/métodos , Primers do DNA , Leptospira/classificação , Especificidade da Espécie , Sensibilidade e Especificidade , Leptospira/isolamento & purificação , Leptospira/genética
15.
Asian Spine J ; 10(4): 734-43, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27559455

RESUMO

STUDY DESIGN: Retrospective study. PURPOSE: To note the magnetic resonance imaging (MRI) differences between pathologically proven cases of atypical spinal tuberculosis and spinal metastasis in 40 cases. OVERVIEW OF LITERATURE: Spinal tuberculosis, or Pott's spine, constitutes less than 1% of all cases of tuberculosis and can be associated with a neurologic deficit. Breast, prostate and lung cancer are responsible for more than 80% of metastatic bone disease cases, and spine is the most common site of bone metastasis. Thus, early diagnosis and prompt management of these pathologies are essential in preventing various complications. METHODS: We retrospectively reviewed 40 cases of atypical tuberculosis and metastasis affecting the spine from the year 2012 to 2014, with 20 cases each that were proven by histopathological examination. MR imaging was performed on 1.5 T MR-Scanner (Magnetom Avanto, Siemens) utilizing standard surface coils of spine with contrast injection. Chi-square test was used for determining the statistical significance and p-values were calculated. RESULTS: The most common site of involvement was the thoracic spine, seen in 85% cases of metastasis and 65% cases of Pott's spine (p=0.144). The mean age of patients with tubercular spine was found to be 40 years and that of metastatic spine was 56 years. The following MR imaging findings showed statistical significance (p<0.05): combined vertebral body and posterior elements involvement, skip lesions, solitary lesion, intra-spinal lesions, concentric collapse, abscess formation and syrinx formation. CONCLUSIONS: Tuberculosis should be considered in the differential diagnosis of various spinal lesions including metastasis, fungal spondylodiskitis, sarcoidosis and lymphoma, particularly in endemic countries. Spinal tuberculosis is considered one of the great mimickers of disease as it could present in a variety of typical and atypical patterns, so proper imaging must be performed in order to facilitate appropriate treatment.

16.
Respirol Case Rep ; 4(3): e00155, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27516884

RESUMO

Teratomas of anterior mediastinum are rare. They are often slow growing, asymptomatic, and detected incidentally on chest imaging. Mycobacterium abscessus (M. abscessus) is an acid-fast bacillus that is classified as a pathogenic "rapid growing" non-tuberculous mycobacteria. It is an uncommon cause of human pathology, which may cause skin and soft tissue infection after skin injury following inoculation, minor trauma, and surgery. Here, we present an unusual case of benign cystic teratoma mimicking recurrent pleural effusion, which was subsequently complicated by M. abscessus infection following thoracotomy. Cystic teratoma is rare, but it needs to be considered whenever clinical and investigative work-up fails to provide a convincing diagnosis. A combined clinical, radiological, surgical, and histopathological assessment is important to arrive at the correct diagnosis. Rapidly growing mycobacteria needs to be included in the differential diagnosis of patients with non-resolving infected post-thoracotomy wound and who do not respond to broad-spectrum antibiotics.

17.
Mol Vis ; 21: 1185-90, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26539030

RESUMO

PURPOSE: The availability of molecular genetic testing for retinoblastoma (RB) in Malaysia has enabled patients with a heritable predisposition to the disease to be identified, which thus improves the clinical management of these patients and their families. In this paper, we presented our strategy for performing molecular genetic testing of the RB1 gene and the findings from our first 2 years of starting this service. METHODS: The peripheral blood of 19 RB probands, including seven bilateral and 12 unilateral cases, was obtained, and genomic DNA was extracted. Analysis of the RB1 exons and the promoter region was conducted first using PCR and direct sequencing. Next, multiplex ligation-dependent probe amplification (MLPA) analysis was performed for patients whom the first results were negative. For patients whom either the first or second method results were positive, parental samples were analyzed to determine the origin of the mutation. RESULTS: Ten RB1 mutations were identified in ten (52.6%) of the 19 probands (seven bilateral and three unilateral cases), of which 30.0% (3/10) was identified with MLPA. The detection rates in the bilateral and unilateral cases were 100.0% (7/7) and 25.0% (3/12), respectively. Three new RB1 mutations were discovered, two in patients with bilateral RB and one in patient with unilateral RB. Interestingly, all mutations detected with the PCR-sequencing method were predicted to create a premature stop codon. Eight mutations were proven to be de novo while one mutation was inherited from the mother in a family with a positive history of RB. CONCLUSIONS: Our results confirmed the heterogeneous nature of RB1 mutations and the predominantly de novo origin. The high prevalence of pathogenic truncating mutations was evident among local patients with RB. The combination of PCR sequencing and MLPA is recommended for sensitive identification of heritable RB cases.


Assuntos
Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Neoplasias da Retina/genética , Proteína do Retinoblastoma/genética , Retinoblastoma/genética , Povo Asiático , Pré-Escolar , Códon sem Sentido , Análise Mutacional de DNA , Éxons , Feminino , Expressão Gênica , Testes Genéticos , Humanos , Lactente , Íntrons , Malásia , Masculino , Regiões Promotoras Genéticas , Retina/metabolismo , Retina/patologia , Neoplasias da Retina/etnologia , Neoplasias da Retina/patologia , Retinoblastoma/etnologia , Retinoblastoma/patologia
18.
Ann Saudi Med ; 35(4): 321-3, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26497714

RESUMO

Giant cell reparative granuloma (GCRG) is a rare lesion that is a reactive process, not a true neoplasm. It was originally coined by Jaffe to describe lesions, which he believed were a response to intraosseous hemorrhage from jaw trauma. Regardless, GCRG is much more distinct from giant cell tumor (GCT) of bone, both histologically and clinically. We report a patient who presented with multiple facial swelling involving the facial skeleton that showed a multiloculated cystic appearance on CT involving the maxilla and mandible. The patient refused surgery, but after 6 months of follow up there was no progression.


Assuntos
Granuloma de Células Gigantes/patologia , Doenças Mandibulares/patologia , Doenças Maxilares/patologia , Adulto , Face/patologia , Feminino , Granuloma de Células Gigantes/diagnóstico por imagem , Humanos , Inflamação/etiologia , Doenças Mandibulares/diagnóstico por imagem , Doenças Maxilares/diagnóstico por imagem , Tomografia Computadorizada por Raios X
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA