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Sample records for gene clinical case

  1. Clinical classification and gene mutation of Chinese probands with Charcot-Marie-Tooth disease Analysis of 57 cases

    Institute of Scientific and Technical Information of China (English)

    Ruxu Zhang; Xiaobo Li; Xiaohong Zi; Shunxiang Huang; Fufeng Zhang; Kun Xia; Qian Pan; Beisha Tang

    2011-01-01

    Charcot-Mafie-Tooth (CMT) disease is the most common inherited peripheral neuropathic disorder.CMT is clinically and genetically heterogeneous. To date, 27 genes associated with the disease have been cloned. The present study carried out clinical classification according to clinical,electrophysiological and pathological features, conducted inheritance classification according to inheritance patterns, and performed mutation analysis of 13 CMT disease genes (PMP22, CX32,HSPB1, MNF2, MPZ, HSPB8, GDAP1, NFL, EGR2, SIMPLE, RAB7, LMNA, MTMR2) in 57 Chinese probands with CMT. Five cases of AD-CMT1 and 13 cases of sporadic CMT1 were diagnosed as CMT1A; five cases of X-CMT1, one case of X-CMT2 and one case of sporadic CMT1 were diagnosed as CMTX1; four cases of AD-CMT2 were diagnosed as CMT2F; one case of AD-CMT2 and one case of sporadic CMT2 were diagnosed as CMT2A2; one case of AD-CMT2 was diagnosed as CMT2L; one case of AD-CMT2 was diagnosed as CMT2J; one case of AR-CMT1 was diagnosed as CMT4A. Among the 57 CMT probands, seven genotypes were determined among 34 patients, with a detection rate of 59.6%. The results indicated that the clinical classification and inheritance classification are indispensable for selecting potential disease genes for mutation detection, and for efficient molecular diagnosis.

  2. [Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases].

    Science.gov (United States)

    Enacán, Rosa E; Masnata, María E; Belforte, Fiorella; Papendieck, Patricia; Olcese, María C; Siffo, Sofía; Gruñeiro-Papendieck, Laura; Targovnik, Héctor; Rivolta, Carina M; Chiesa, Ana E

    2017-06-01

    Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clínicos Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases Mutations in the DUOX2 gene have been described in transient and permanent congenital hypothyroidism. Two brothers with congenital hypothyroidism detected by neonatal screening with eutopic gland and elevated thyroglobulin are described. They were treated with levothyroxine until it could be suspended in both during childhood, assuming the picture as transient. Organification disorder was confirmed. Both patients were compounds heterozygous for a mutation in exon 9 of the paternal allele (c.1057_1058delTT, p.F353PfsX36 or p.F353fsX388) and in exon 11 of the maternal allele (c.1271T > G, p.Y425X) of DUOX2 gene. Our finding confirms that the magnitude of the defect of DUOX2 is not related to the number of inactivated alleles, suggesting compensatory mechanisms in the peroxide supply. Sociedad Argentina de Pediatría.

  3. Novel mutation of the PRNP gene of a clinical CJD case

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    Collinge John

    2006-11-01

    Full Text Available Abstract Background Transmissible spongiform encephalopathies (TSEs, a group of neurodegenerative diseases, are thought to be caused by an abnormal isoform of a naturally occurring protein known as cellular prion protein, PrPC. The abnormal form of prion protein, PrPSc accumulates in the brain of affected individuals. Both isoforms are encoded by the same prion protein gene (PRNP, and the structural changes occur post-translationally. Certain mutations in the PRNP gene result in genetic TSEs or increased susceptibility to TSEs. Case presentation A 70 year old woman was admitted to the hospital with severe confusion and inability to walk. Relatives recognized memory loss, gait and behavioral disturbances over a six month period prior to hospitalization. Neurological examination revealed Creutzfeldt-Jakob disease (CJD related symptoms such as incontinence, Babinski sign and myoclonus. EEG showed periodic sharp waves typical of sporadic CJD and cerebrospinal fluid analysis (CSF was positive for the presence of the 14-3-3-protein. As the disease progressed the patient developed akinetic mutism and died in the tenth month after onset of the disease symptoms. Unfortunately, no autopsy material was available. PRNP sequencing showed the occurrence of a point mutation on one allele at codon 193, which is altered from ACC, coding for a threonine, to ATC, encoding an isoleucine (T193I. Conclusion Here we report a novel mutation of the PRNP gene found in an elderly female patient resulting in heterozygosity for isoleucine and threonine at codon 193, in which normally homozygosity for threonine is expected (T193. The patient presented typical clinical symptoms of CJD. EEG findings and the presence of the 14-3-3 protein in the CSF, contributed to CJD diagnosis, allowing the classification of this case as a probable CJD according to the World Health Organization (WHO accepted criteria.

  4. Utilization of Gene Mapping and Candidate Gene Mutation Screening for Diagnosing Clinically Equivocal Conditions:A Norrie Disease Case Study

    Institute of Scientific and Technical Information of China (English)

    Vasiliki Chini; Danai Stambouli; Florina Mihaela Nedelea; George Alexandru Filipescu; Diana Mina; Marios Kambouris; Hatem El-Shanti

    2014-01-01

    Prenatal diagnosis was requested for an undiagnosed eye disease showing X-linked inheritance in a family. No medical records existed for the affected family members..Mapping of the X chromosome and candidate gene mutation screening i-dentified a c.C267A[p.F89L] mutation in NPD previously de-scribed as possibly causing Norrie disease..The detection of the c.C267A[p.F89L] variant in another unrelated family con-firms the pathogenic nature of the mutation for the Norrie dis-ease phenotype. Gene mapping, haplotype analysis, and can-didate gene screening have been previously utilized in research applications but were applied here in a diagnostic setting due to the scarcity of available clinical information..The clinical diagnosis and mutation identification were critical for provid-ing proper genetic counseling and prenatal diagnosis for this family.

  5. Clinical manifestations and gene mutation in a case of Machado-Joseph disease

    Institute of Scientific and Technical Information of China (English)

    Bin Zhang; Liru Li; Longxing Chen; Jie Huang

    2012-01-01

    This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission showed cerebellar ataxia and a history of hypertension. Cranial MRI demonstrated cerebellar and brain stem atrophy. Gene analysis showed abnormal amplification of the CAG trinucleotide repeat in exon 10 of the ataxin-3 (ATXN3) gene, resulting in 70–81 CAG repeats in the patient, with a significant positive family history.

  6. Case-control approach application for finding a relationship between candidate genes and clinical mastitis in Holstein dairy cattle.

    Science.gov (United States)

    Bagheri, Masoumeh; Moradi-Sharhrbabak, M; Miraie-Ashtiani, R; Safdari-Shahroudi, M; Abdollahi-Arpanahi, R

    2016-02-01

    Mastitis is a major source of economic loss in dairy herds. The objective of this research was to evaluate the association between genotypes within SLC11A1 and CXCR1 candidate genes and clinical mastitis in Holstein dairy cattle using the selective genotyping method. The data set contained clinical mastitis records of 3,823 Holstein cows from two Holstein dairy herds located in two different regions in Iran. Data included the number of cases of clinical mastitis per lactation. Selective genotyping was based on extreme values for clinical mastitis residuals (CMR) from mixed model analyses. Two extreme groups consisting of 135 cows were formed (as cases and controls), and genotyped for the two candidate genes, namely, SLC11A1 and CXCR1, using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), respectively. Associations between single nucleotide polymorphism (SNP) genotypes with CMR and breeding values for milk and protein yield were carried out by applying logistic regression analyses, i.e. estimating the probability of the heterogeneous genotype in the dependency of values for CMR and breeding values (BVs). The sequencing results revealed a novel mutation in 1139 bp of exon 11 of the SLC11A1 gene and this SNP had a significant association with CMR (P G and these genotypes had significant relationships with CMR. Overall, the results showed that SLC11A1 and CXCR1 are valuable candidate genes for the improvement of mastitis resistance as well as production traits in dairy cattle populations.

  7. A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS

    Directory of Open Access Journals (Sweden)

    M. Yu. Bobylova

    2015-01-01

    Full Text Available The introduction of the latest genetic techniques into practice could discover a basis for the comorbidity of genetic epilepsies and behavioral disturbances with cognitive impairments. Some chromosomal syndromes are characterized by a specific electroencephalogram (EEG pattern, the type of seizures, and the variant of the course of epilepsy. This paper describes a case of synaptic RAS GTP-ase-activating protein 1 (SYNGAP1 gene mutation in a 9-year-old female patient with eyelid myoclonic epilepsy, atypical absences, and atypical autism with mental retardation. The patient’s parents visited a physician for epilepsy (myoclonic absences, markedly delayed psycho-speech development, and specific communication problems in the child. The characteristics of autistic behavior were manifested from birth; routine EEG recorded epileptiform activity at the age of 2 years; epileptic seizures appeared at 5 years. Valproic acid and levetiracetam in this patient exerted a good effect on seizures; however, a clinical and encephalographic remission was achieved by a combination of levetiracetam and ethosuximide. The clinical case including the neurological and psychic statuses, logopedic characteristics, the result of psychological testing, and video-EEG monitoring findings are analyzed in detail.The SYNGAP1 gene is located on chromosome 6p21.3. About 50 cases of SYNGAP1 syndrome are now known worldwide. After normal maternal pregnancy and delivery, the patients show delayed psychomotor development with pronounced regression at 1 to 3 years of age. At this age, there are diffuse polyspike discharges on the EEG or an onset of generalized epileptic seizures (atonic, myoclonic, eyelid myoclonic, and absence seizures, commonly photosensitivity and autoinduction, mental development stops, speech regresses, behavioral disorders that are typical of autism develop. Drug-resistant epilepsy is noted in approximately half of the described cases. There is a correlation

  8. Clinical Case Registries (CCR)

    Data.gov (United States)

    Department of Veterans Affairs — The Clinical Case Registries (CCR) replaced the former Immunology Case Registry and the Hepatitis C Case Registry with local and national databases. The CCR:HIV and...

  9. Combining gene expression, demographic and clinical data in modeling disease: a case study of bipolar disorder and schizophrenia

    Directory of Open Access Journals (Sweden)

    Dobrin Seth

    2008-11-01

    Full Text Available Abstract Background This paper presents a retrospective statistical study on the newly-released data set by the Stanley Neuropathology Consortium on gene expression in bipolar disorder and schizophrenia. This data set contains gene expression data as well as limited demographic and clinical data for each subject. Previous studies using statistical classification or machine learning algorithms have focused on gene expression data only. The present paper investigates if such techniques can benefit from including demographic and clinical data. Results We compare six classification algorithms: support vector machines (SVMs, nearest shrunken centroids, decision trees, ensemble of voters, naïve Bayes, and nearest neighbor. SVMs outperform the other algorithms. Using expression data only, they yield an area under the ROC curve of 0.92 for bipolar disorder versus control, and 0.91 for schizophrenia versus control. By including demographic and clinical data, classification performance improves to 0.97 and 0.94 respectively. Conclusion This paper demonstrates that SVMs can distinguish bipolar disorder and schizophrenia from normal control at a very high rate. Moreover, it shows that classification performance improves by including demographic and clinical data. We also found that some variables in this data set, such as alcohol and drug use, are strongly associated to the diseases. These variables may affect gene expression and make it more difficult to identify genes that are directly associated to the diseases. Stratification can correct for such variables, but we show that this reduces the power of the statistical methods.

  10. Effects of TNFα, NOS3, MDR1 Gene Polymorphisms on Clinical Parameters, Prognosis and Survival of Multiple Myeloma Cases.

    Science.gov (United States)

    Basmaci, C; Pehlivan, M; Tomatir, Ag; Sever, T; Okan, V; Yilmaz, M; Oguzkan-Balci, S; Pehlivan, S

    2016-01-01

    It is not clear how gene polymorphisms affecting drugs can contributes totheir efficacy in multiple myeloma (MM). We here aimed to explore associations among gene polymorphisms of tumor necrosis factor alpha (TNFα), nitric oxide synthesis 3 (NOS3) and multi-drug resistance 1 (MDR1), clinical parameters, prognosis and survival in MM patients treated with VAD (vincristine-adriamycine-dexamethasone), MP (mephalane-prednisolone), autolougus stem cell transplantation (ASCT), BODEC (bortezomib-dexamethasone-cyclophosphamide) and TD (thalidomide-dexamethasone). We analyzed TNFα, NOS 3 and MDR1 in 77 patients with MM and 77 healthy controls. The genotyping was performed with PCR and/or PCR-RFLP. There was no clinically significant difference between MM and control groups when TNF α(-238) and (-857) and MDR1 gene polymorphisms were studied. However, the TNFαgene polymorphism (-308) GG genotype (p=0.012) and NOS3 (+894) TT genotype (p=0.008) were more common in the MM group compared to healthy controls. NOS3 (VNTR) AA (p=0.007) and NOS3 (+894) GG genotypes (p=0.004) were decreased in the MM group in contrast. In conclusion, the NOS3 (+894) TT and TNF α(-308) GG genotypes may have roles in myeloma pathogenesis.

  11. Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter – Case Report

    Science.gov (United States)

    Preda, L.; Dinca, O.; Bucur, A.; Dragomir, C.; Severin, E.

    2010-01-01

    Cherubism is a particular form of fibrous dysplasia of the jaws. Familial occurrence was reported in most cases. The condition is a rare hereditary disorder with autosomal dominant inheritance, with complete penetrance in males and incomplete penetrance in females and variable expressivity. It is known to be caused by mutations in the gene encoding SH3-domain binding protein 2, SH3BP2 gene. Major diagnostic criteria are cherubic facial appearance, painless hard enlargement of the jaws, and frequently associated dental abnormalities. The aim of the study was to analyze clinical and genetic features of cherubism in a family with 3 daughters in which the youngest one was affected. Clinical and radiographic examinations, hematological and biochemical evaluations and biopsy were performed. Molecular genetic analysis consisted of PCR amplification and direct sequencing of selected exons of the SH3BP2 gene. Cherubism was suspected based on clinical and radiographic examinations of the 9-year-old daughter. She presented asymmetrical enlargement of the mandible, speech and swallowing problems and dental abnormalities on the lower jaw. There was no history of similar clinical findings in any of the daughters or the parents of the affected girl. Abnormal results were obtained by genetic analysis. A c.1244G>A mutation was identified in exon 9 of the SH3BP2 gene in the asymptomatic mother and her affected daughter. The identified mutation in the SH3BP2 gene is probably disease-causing. The asymptomatic mother transmitted the gene mutation to her affected daughter. Our results confirm the reduced penetrance and variable expression of the gene mutation. PMID:21045962

  12. Lumbar stenosis: clinical case

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    Pedro Sá

    2014-08-01

    Full Text Available Lumbar stenosis is an increasingly common pathological condition that is becoming more frequent with increasing mean life expectancy, with high costs for society. It has many causes, among which degenerative, neoplastic and traumatic causes stand out. Most of the patients respond well to conservative therapy. Surgical treatment is reserved for patients who present symptoms after implementation of conservative measures. Here, a case of severe stenosis of the lumbar spine at several levels, in a female patient with pathological and surgical antecedents in the lumbar spine, is presented. The patient underwent two different decompression techniques within the same operation.

  13. [Neuroretinitis. Clinical cases].

    Science.gov (United States)

    Valverde-Gubianas, M; Ramos-López, J F; López-Torres, J A; Toribio-García, M; Milla-Peñalver, C; Gálvez Torres-Puchol, J; Medialdea-Marcos, S

    2009-08-01

    Evaluate the etiology and the most frequent funduscopic alterations of the neuroretinitis. We present the case of a woman 24 years old with a bilateral decrease of visual sharpness (AV), painless and progressive, the funduscopic examination of which reveals a bilateral optical disc edema, with no hemorrhages or exudates, retina edema of the posterior pole and phlebitic areas. The systematic study was normal except for the hemogram (18,000/mm(3) leucocytes with 79% neutrophils) and the positive serology next to a Chlamydia. We also present the case of a 64 years old woman with a decrease of AV at the right eye of one week duration. At the back of the eye a macular star can be seen, and papilla edema. A systematic study gave normal results and positive serology at Bartonella henselae. The illness produced by a cat scratch is the most common cause of neuroretinitis. The customary findings are a loss of AV, discromatopsia, afferent papillary defects and abnormality on the visual field. Other frequent findings at the back of the eye are hemorrhagic nerve fibers, cotton-like exudates, papilla edema, macular star and glassy inflammation. The roll of antibiotic therapy is questionable. Oral ciprofloxacine seems to give good results.

  14. Wolman病临床及LIPA基因突变1例%One case with Wolman disease: clinical features and LIPA gene mutation

    Institute of Scientific and Technical Information of China (English)

    朱燕凤; 张婷; 陈扬; 林凯; 陆铸今; 王晓红; 俞蕙; 陆国平

    2013-01-01

    Objective Wolman disease (WD) is a rare autosomal recessive lysosomal storage disease, caused by deficiency of lysosomal acid lipase ( LAL). In China, WD, the same type disorder as cholesteryl ester storage disease { CESD) , but with severe clinical manifestations, is still poorly recognized. The purpose of this study was to investigate the clinical features, genetic abnormality of WD. Methods Clinical manifestations, laboratory examinations, and genetic testing of one case of WD were presented, analyzed, and discussed. The related literatures were reviewed. Results A approximately 5-month-old female infant presented typical WD clinical features, including massive hepatosplenomegaly, remarkable jaundice, liver failure, severe coagulopathy, depressed bone marrow function, bilateral calcified adrenal glands, and in bone marrow aspirate, multiple foamy, vacuolated cytoplasm, sea-blue histiocytes with negative periodic acid schiff staining were observed. Sequencing of the LIPA gene revealed that she was a homozygote with the nonsense mutation ( c. 796G > T) in exon 7, resulting in the change of amino acid 266 from Gly to termination codon (GGA-TGA). This mutation finally result in a synthesis of the truncated protein ( p. G266 * ). Conclusions The case presented here is the second WD case reported in mainland China. Based on the size of our population, WD and CESD are both underestimated. With the progress in DNA sequencing technique, and recognition the nature of WD and CESD, hopefully more cases will be diagnosed and recognized.%目的 探讨Wolman病的临床特点及分子诊断的意义.方法 对1例符合Wolman病临床表现的患儿进行白细胞溶酶体酸性脂酶LIPA基因测序,分析其突变的类型.结果 约5月龄女婴,发现“皮肤黄染10余天,加重伴发热3d”入院.查体见肝脾显著肿大,黄疸.实验室检查提示贫血,肝功能衰竭,高三酰甘油血症;X线胸腹片和腹部增强CT均提示特征性

  15. Detection of myxoma viruses encoding a defective M135R gene from clinical cases of myxomatosis; possible implications for the role of the M135R protein as a virulence factor

    OpenAIRE

    Larsen Lars E; Breum Solvej Ø; Polacek Charlotta; Belsham Graham J; Bøtner Anette

    2010-01-01

    Abstract Background Myxoma virus is a member of the Poxviridae and causes disease in European rabbits. Laboratory confirmation of the clinical disease, which occurs in the autumn of most years in Denmark, has been achieved previously using antigen ELISA and electron microscopy. Results An unusually large number of clinically suspected cases of myxomatosis were observed in Denmark during 2007. Myxoma virus DNA was detected, using a new real time PCR assay which targets the M029L gene, in over ...

  16. Clinical case of toxocariasis chorioretinitis

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    I. G. Pikhovskaia

    2014-07-01

    Full Text Available The clinical case of a toxocariasis chorioretinitis which is of interest for ophthalmologists is described. Insufficient knowledge of clinic and diagnostics of a lesion of eyes by Toxocara canis, their infrequent occurrence, similarity of the ophthalmologic picture with inflammatory diseases and eye neoplasms can be at the bottom of gross diagnostic mistake and wrong choice of treatment tactics.

  17. Clinical case of toxocariasis chorioretinitis

    Directory of Open Access Journals (Sweden)

    I. G. Pikhovskaia

    2013-01-01

    Full Text Available The clinical case of a toxocariasis chorioretinitis which is of interest for ophthalmologists is described. Insufficient knowledge of clinic and diagnostics of a lesion of eyes by Toxocara canis, their infrequent occurrence, similarity of the ophthalmologic picture with inflammatory diseases and eye neoplasms can be at the bottom of gross diagnostic mistake and wrong choice of treatment tactics.

  18. [MICROSCOPIC COLITIS: THE CLINICAL CASE].

    Science.gov (United States)

    Kulygina, Y A; Skalinskaya, M I; Ageeva, T A

    2015-01-01

    During past years incidence and prevalence of microscopic colitis (MC) have increased, that is possible caused to the improvement of knowledge of doctors about the disease. This article contain modern views on epidemiology, diagnostic and variant of microscopic colitis treatment. A typical clinical picture of MC in the form of recurrent a watery diarrhea, with the absence of pathologic changes at roentgenologic and endoscopic investigations is described with the example of a clinical case.

  19. Disseminated cysticercosis: clinical spectrum, Toll-like receptor-4 gene polymorphisms and role of albendazole: A prospective follow-up of 60 cases with a review of 56 published cases.

    Science.gov (United States)

    Qavi, Abdul; Garg, Ravindra Kumar; Malhotra, Hardeep Singh; Jain, Amita; Kumar, Neeraj; Malhotra, Kiran Preet; Srivastava, Pradeep Kumar; Verma, Rajesh; Sharma, Praveen Kumar

    2016-09-01

    In this study, we describe clinical and imaging spectrum, and the natural course of patients with disseminated cysticercosis. How albendazole affects the course of disease has also been evaluated. We assessed the Toll-like receptor-4 gene polymorphisms, to know the reason for the apparently higher prevalence of disseminated cysticercosis in India.Sixty consecutive patients with disseminated cysticercosis were enrolled. Sixty age-and-sex-matched healthy controls were also enrolled for the purpose of genetic study. Twenty patients, who gave consent, were treated with albendazole along with corticosteroids. Forty patients did not give consent for antiparasitic therapy. Assessment for Toll-like receptor-4 gene polymorphisms (Asp299Gly and Thr399Ile genes) was done. Patients were followed for 6 months. We also performed a literature search of cases published in English language using PubMed electronic database and analyzed 56 cases thus available.There was an increased risk (6.63 fold and 4.61 fold) of disseminated cysticercosis in the presence of Asp299Gly and Thr399Ile polymorphisms in Toll-like receptor-4, respectively. The allelic frequency of Gly (11% vs. 3%, P = 0.024, odds ratio [OR] = 3.52) and Ile alleles (11% vs. 2%, P = 0.009, OR = 4.738) in disseminated cysticercosis was high. Albendazole resulted in complete disappearance of all cerebral lesions in 35% (7/20) patients and reduction in lesion load in remaining 65% (13/20) patients. No significant change in number of cysticercal lesion was noted in patients who did not receive albendazole. No major adverse reaction following antiparasitic treatment was noted. Three deaths were recorded in patients who did not receive antiparasitic treatment.Of the 56 cases reported in PubMed, 33 patients received antiparasitic treatment with follow-up data available for 31 patients. Most (24) of these patients received albendazole. A significant clinical and/or imaging improvements, on follow up, were observed in 27 patients

  20. Supernumerary Jawbone Tooth: Clinical Case

    OpenAIRE

    Rivas Gutiérrez, Jesús; Carlos Sánchez, María Dolores

    2016-01-01

    Introduction: supernumerary teeth are dental development anomalies, alsoknown as hyperdontia or extra teeth. Their prevalence ranges between 0.3% and 3.8%.Their morphology may be normal or dismorphic and are associated to the etiology ofocclusal alterations. It is important to make an early diagnostic through a radiographicalstudy. Case presentation:this article presents a clinical case of a supernumerary tooth thatcaused rotation and crowding of the anterior bottom teeth, which was addressed...

  1. Gene electrotransfer in clinical trials

    DEFF Research Database (Denmark)

    Gehl, Julie

    2014-01-01

    Electroporation is increasingly being used for delivery of chemotherapy to tumors. Likewise, gene delivery by electroporation is rapidly gaining momentum for both vaccination purposes and for delivery of genes coding for other therapeutic molecules, such as chronic diseases or cancer. This chapte...... describes how gene therapy may be performed using electric pulses to enhance uptake and expression.......Electroporation is increasingly being used for delivery of chemotherapy to tumors. Likewise, gene delivery by electroporation is rapidly gaining momentum for both vaccination purposes and for delivery of genes coding for other therapeutic molecules, such as chronic diseases or cancer. This chapter...

  2. Detection of myxoma viruses encoding a defective M135R gene from clinical cases of myxomatosis; possible implications for the role of the M135R protein as a virulence factor

    DEFF Research Database (Denmark)

    Belsham, Graham; Polacek, Charlotta; Breum, Solvej Østergaard

    2010-01-01

    Background: Myxoma virus is a member of the Poxviridae and causes disease in European rabbits. Laboratory confirmation of the clinical disease, which occurs in the autumn of most years in Denmark, has been achieved previously using antigen ELISA and electron microscopy. Results: An unusually large...... number of clinically suspected cases of myxomatosis were observed in Denmark during 2007. Myxoma virus DNA was detected, using a new real time PCR assay which targets the M029L gene, in over 70% of the clinical samples submitted for laboratory confirmation. Unexpectedly, further analysis revealed......: It appears that expression of the full-length myxoma virus M135R protein is not required for virulence in rabbits. Hence, the frame-shift mutation in the M135R gene in the nonpathogenic 6918 virus strain is not sufficient to explain the attenuation of this myxoma virus but one/some of the other frame...

  3. Clinical significance of fluorescence in situ hybridization for detection of hTERC gene amplification in cervical cancer and precancerous tissues cases

    Directory of Open Access Journals (Sweden)

    Shuang LIU

    2012-06-01

    Full Text Available Objective  To detect the human telomerase RNA gene (hTERC amplification in cervical lesions, and explore its clinical significance. Methods  The tissues of the cervical lesions were collected from 195 patients, including 33 of chronic cervicitis, 34 of CINⅠ, 37 of CIN Ⅱ-Ⅲ, 30 of cervical squamous cell carcinoma, and 61 of cervica1 adenocarcinoma, and abnormal hTERC was detected with amplification of fluorescence in situhybridization (FISH. The relationship between hTERC gene amplification and clinicopathological parameters was analyzed. Results  Among the 195 patients, the positive rate of hTERC gene amplification was 3.03% (1/33, 29.41% (10/34, 72.97% (27/37, 100% (30/30, 91.8% (56/61 in chronic cervicitis, CINⅠ, CIN Ⅱ-Ⅲ, cervical squamous cell carcinoma and cervica1 adenocarcinoma respectively, and the results showed that hTERC amplification rate was significantly higher in group CIN Ⅱ-Ⅲthan in group CINⅠ(P 0.05. Conclusion  Detection of gene amplification by FISH technology can be used as a means for accurate diagnosis and prediction of the histologically difficult-to-diagnose lesion and for risk assessment after treatment of cervical precancerous lesions.

  4. A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disorders

    Directory of Open Access Journals (Sweden)

    M.Yu Bobylova

    2014-01-01

    Full Text Available The practical introduction of the latest genetic techniques could provide the basis for comorbidity of genetic epilepsies and behavioral disorders with cognitive impairments. This article describes a case of SNGAP1 mutation in an 8-year-old female patient having symptomatic epilepsy with epileptic eyelid myoclonia and atypical absences, atypical autism with mental retardation. A detailed clinical discussion deals with neurological and mental states, logopedic characteristics, and psychological examination findings, as well as video-EEG monitoring data.

  5. Rogue Genes May Cause Some ALS Cases

    Science.gov (United States)

    ... https://medlineplus.gov/news/fullstory_166795.html Rogue Genes May Cause Some ALS Cases Most people with ... 21, 2017 WEDNESDAY, June 21, 2017 (HealthDay News) -- Gene mutations may cause up to 17 percent of ...

  6. Detection of myxoma viruses encoding a defective M135R gene from clinical cases of myxomatosis; possible implications for the role of the M135R protein as a virulence factor

    Directory of Open Access Journals (Sweden)

    Larsen Lars E

    2010-01-01

    Full Text Available Abstract Background Myxoma virus is a member of the Poxviridae and causes disease in European rabbits. Laboratory confirmation of the clinical disease, which occurs in the autumn of most years in Denmark, has been achieved previously using antigen ELISA and electron microscopy. Results An unusually large number of clinically suspected cases of myxomatosis were observed in Denmark during 2007. Myxoma virus DNA was detected, using a new real time PCR assay which targets the M029L gene, in over 70% of the clinical samples submitted for laboratory confirmation. Unexpectedly, further analysis revealed that a high proportion of these viral DNA preparations contained a frame-shift mutation within the M135R gene that has previously been identified as a virulence factor. This frame-shift mutation results in expression of a greatly truncated product. The same frame-shift mutation has also been found recently within an avirulent strain of myxoma virus (6918. However, three other frame-shift mutations found in this strain (in the genes M009L, M036L and M148R were not shared with the Danish viruses but a single nucleotide deletion in the M138R/M139R intergenic region was a common feature. Conclusions It appears that expression of the full-length myxoma virus M135R protein is not required for virulence in rabbits. Hence, the frame-shift mutation in the M135R gene in the nonpathogenic 6918 virus strain is not sufficient to explain the attenuation of this myxoma virus but one/some of the other frame-shift mutations alone or in conjunction with one/some of the thirty two amino acid substitutions must also contribute. The real time PCR assay for myxoma virus is a useful diagnostic tool for laboratory confirmation of suspected cases of myxomatosis.

  7. Detection of myxoma viruses encoding a defective M135R gene from clinical cases of myxomatosis; possible implications for the role of the M135R protein as a virulence factor.

    Science.gov (United States)

    Belsham, Graham J; Polacek, Charlotta; Breum, Solvej Ø; Larsen, Lars E; Bøtner, Anette

    2010-01-16

    Myxoma virus is a member of the Poxviridae and causes disease in European rabbits. Laboratory confirmation of the clinical disease, which occurs in the autumn of most years in Denmark, has been achieved previously using antigen ELISA and electron microscopy. An unusually large number of clinically suspected cases of myxomatosis were observed in Denmark during 2007. Myxoma virus DNA was detected, using a new real time PCR assay which targets the M029L gene, in over 70% of the clinical samples submitted for laboratory confirmation. Unexpectedly, further analysis revealed that a high proportion of these viral DNA preparations contained a frame-shift mutation within the M135R gene that has previously been identified as a virulence factor. This frame-shift mutation results in expression of a greatly truncated product. The same frame-shift mutation has also been found recently within an avirulent strain of myxoma virus (6918). However, three other frame-shift mutations found in this strain (in the genes M009L, M036L and M148R) were not shared with the Danish viruses but a single nucleotide deletion in the M138R/M139R intergenic region was a common feature. It appears that expression of the full-length myxoma virus M135R protein is not required for virulence in rabbits. Hence, the frame-shift mutation in the M135R gene in the nonpathogenic 6918 virus strain is not sufficient to explain the attenuation of this myxoma virus but one/some of the other frame-shift mutations alone or in conjunction with one/some of the thirty two amino acid substitutions must also contribute. The real time PCR assay for myxoma virus is a useful diagnostic tool for laboratory confirmation of suspected cases of myxomatosis.

  8. [Congenital retinal folds in different clinical cases].

    Science.gov (United States)

    Munteanu, M

    2005-01-01

    We present 12 clinical cases of congenital retinal folds with different etiologies: posterior primitive vitreous persistency and hyperplasia (7 cases),retinocytoma (1 case). retinopathy of prematurity (1 case), astrocytoma of the retina (1 case), retinal vasculitis (1 case), Goldmann-Favre syndrome (1 case). Etiopathogenic and nosological aspects are discussed; the congenital retinal folds are interpreted as a symptom in a context of a congenital or acquired vitreo-retinal pathology.

  9. Lung Cancer Gene Signatures and Clinical Perspectives

    Directory of Open Access Journals (Sweden)

    Ruprecht Kuner

    2013-12-01

    Full Text Available Microarrays have been used for more than two decades in preclinical research. The tumor transcriptional profiles were analyzed to select cancer-associated genes for in-deep functional characterization, to stratify tumor subgroups according to the histopathology or diverse clinical courses, and to assess biological and cellular functions behind these gene sets. In lung cancer—the main type of cancer causing mortality worldwide—biomarker research focuses on different objectives: the early diagnosis of curable tumor diseases, the stratification of patients with prognostic unfavorable operable tumors to assess the need for further therapy regimens, or the selection of patients for the most efficient therapies at early and late stages. In non-small cell lung cancer, gene and miRNA signatures are valuable to differentiate between the two main subtypes’ squamous and non-squamous tumors, a discrimination which has further implications for therapeutic schemes. Further subclassification within adenocarcinoma and squamous cell carcinoma has been done to correlate histopathological phenotype with disease outcome. Those tumor subgroups were assigned by diverse transcriptional patterns including potential biomarkers and therapy targets for future diagnostic and clinical applications. In lung cancer, none of these signatures have entered clinical routine for testing so far. In this review, the status quo of lung cancer gene signatures in preclinical and clinical research will be presented in the context of future clinical perspectives.

  10. [Vertical fractures: apropos of 2 clinical cases].

    Science.gov (United States)

    Félix Mañes Ferrer, J; Micò Muñoz, P; Sánchez Cortés, J L; Paricio Martín, J J; Miñana Laliga, R

    1991-01-01

    The aim of the study is to present a clinical review of the vertical root fractures. Two clinical cases are presented to demonstrates the criteria for obtaining a correct diagnosis of vertical root fractures.

  11. Uveal effusion syndrome (clinical case

    Directory of Open Access Journals (Sweden)

    Yu. A. Belyy

    2015-01-01

    Full Text Available The purpose — to evaluate the effectiveness of the posterior sclerectomy with the corneal trepan in a uveal effusion syndrome.Patients and methods. Patient 1. The man, 61 years, complained about a blindness of the right eye and the progressing decrease in vision of the left eye. According to data of examinations the diagnosis was: uveal effusion syndrome, detachment of the choroid, exudative retinal detachment, the complicated cataract of both eyes. Patient 2. The man, 62 years, with complaints to low vision of the right eye and a blindness of the left-hand eye. Diagnosis: uveal effusion syndrome, detachment of the choroid, exudative retinal detachment, the initial complicated cataract of the right eye. Subatrophy operated retinal detachment, complicated cataract, silicone into the vitreal cavity of the left eye. Both patients underwent trepanation posterior sclera. Results. The patient 1noted significant improvement of vision in both eyes at the last examination. Мisual acuity with correction was OD — 0,2, OS — 0.3. Intraocular pressure was normal, improvement of electrical sensitivity and lability was diagnosed. On ultrasound examination of the retina belonged, moderate swelling of the choroid remained. Patient 2. Visual acuity was 0,1 + 3,0 D at the time of the last inspection. According to the ultrasonic B-scan of the right eye retinal detachment decreased to 3,8 mm, moderate swelling of the choroid remained. The OСT has showed detachment of the neuroepithelium in the macula to 60 μm. In ultrasonic biomicroscopy circular, ciliochoroidal detachment to 0,15 mm was diagnised.Conclusion. Described clinical cases confirmed the almost complete recovery of patients with the uveal effusion syndrome. Sclerectomy with the use of corneal trepan is a technically simple procedure and helps to define the path of the outflow suprachoroidal fluid subtenon space.

  12. Clinical adenoviral gene therapy for prostate cancer.

    Science.gov (United States)

    Schenk, Ellen; Essand, Magnus; Bangma, Chris H; Barber, Chris; Behr, Jean-Paul; Briggs, Simon; Carlisle, Robert; Cheng, Wing-Shing; Danielsson, Angelika; Dautzenberg, Iris J C; Dzojic, Helena; Erbacher, Patrick; Fisher, Kerry; Frazier, April; Georgopoulos, Lindsay J; Hoeben, Rob; Kochanek, Stefan; Koppers-Lalic, Daniela; Kraaij, Robert; Kreppel, Florian; Lindholm, Leif; Magnusson, Maria; Maitland, Norman; Neuberg, Patrick; Nilsson, Berith; Ogris, Manfred; Remy, Jean-Serge; Scaife, Michelle; Schooten, Erik; Seymour, Len; Totterman, Thomas; Uil, Taco G; Ulbrich, Karel; Veldhoven-Zweistra, Joke L M; de Vrij, Jeroen; van Weerden, Wytske; Wagner, Ernst; Willemsen, Ralph

    2010-07-01

    Prostate cancer is at present the most common malignancy in men in the Western world. When localized to the prostate, this disease can be treated by curative therapy such as surgery and radiotherapy. However, a substantial number of patients experience a recurrence, resulting in spreading of tumor cells to other parts of the body. In this advanced stage of the disease only palliative treatment is available. Therefore, there is a clear clinical need for new treatment modalities that can, on the one hand, enhance the cure rate of primary therapy for localized prostate cancer and, on the other hand, improve the treatment of metastasized disease. Gene therapy is now being explored in the clinic as a treatment option for the various stages of prostate cancer. Current clinical experiences are based predominantly on trials with adenoviral vectors. As the first of a trilogy of reviews on the state of the art and future prospects of gene therapy in prostate cancer, this review focuses on the clinical experiences and progress of adenovirus-mediated gene therapy for this disease.

  13. Gene therapy clinical trials worldwide 1989-2004-an overview.

    Science.gov (United States)

    Edelstein, Michael L; Abedi, Mohammad R; Wixon, Jo; Edelstein, Richard M

    2004-06-01

    In 1989, Rosenberg et al. performed the first human gene therapy trial when they used a retrovirus to introduce the gene coding for resistance to neomycin into human tumor-infiltrating lymphocytes before infusing them into five patients with advanced melanoma. This study demonstrated the feasibility of using retroviral gene transduction in humans and set the stage for further studies. Since then, over 900 clinical trials have been completed, are ongoing or have been approved worldwide. These trials have been designed to establish feasibility and safety, to demonstrate the reality of expression of therapeutic protein(s) in vivo by the genes transferred and, in some cases, to show therapeutic benefit. There is no single source of information that presents an overview of all the clinical trials undertaken worldwide. In 1997 we set up a database to bring all the information on clinical trials together as comprehensively and as globally as possible. The data were compiled and are regularly updated from official agency sources, the published literature, presentations at conferences and from information kindly provided by investigators or trial sponsors themselves. As of January 31, 2004, we have identified 918 trials in 24 countries. The USA accounts for two-thirds of these trials. Cancer is by far the most common disease indication, followed by inherited monogenic diseases, and cardiovascular diseases. Viral vectors have been the most frequently used vehicles for transferring genes into human cells, with retroviruses and adenoviruses representing the vast majority. Plasmid (naked) DNA and other non-viral vectors have been used in one-quarter of the trials. Over 100 distinct genes have been transferred. This article aims to provide a descriptive overview of the clinical trials that, to the best of our knowledge, have been or are being performed worldwide. Details of the data presented, including an interactive, searchable database that currently holds information on 918

  14. Recurrent peroneal neuropathy in adolescent: clinical case

    Directory of Open Access Journals (Sweden)

    V. A. Bulanova

    2012-01-01

    Full Text Available The clinical case of hereditary neuropathy with liability to pressure palsies (HNPP confirmed the results of DNA diagnostics is described. Clinical and electrophysiological features of the course of HNPP in adolescent is analyzed. Many various illnesses require exclusion in case of the foot extensor paresis.

  15. Recurrent peroneal neuropathy in adolescent: clinical case

    OpenAIRE

    V. A. Bulanova; D. S. Druzhinin

    2012-01-01

    The clinical case of hereditary neuropathy with liability to pressure palsies (HNPP) confirmed the results of DNA diagnostics is described. Clinical and electrophysiological features of the course of HNPP in adolescent is analyzed. Many various illnesses require exclusion in case of the foot extensor paresis.

  16. Clinical characteristics and SLC12A3 gene mutation profile of Gitelman syndrome: One case report%青少年Gitelman综合征一例的临床表现及基因诊断分析

    Institute of Scientific and Technical Information of China (English)

    卢婉; 郭颖; 倪昶; 李瑾; 林娴; 严励; 杨川

    2015-01-01

    Objective To describe the clinical characteristics of a patient with Gitelman syndrome,and to identify the associated SLC12A3 gene mutations.Methods A suspected case of teenager-onset Gitelman syndrome was observed in our hospital.It was further confirmed by clinical manifestations and auxiliary examination.In addition,direct sequencing for the exons of SLC12A3 gene and CLCNKB gene region was conducted to identify the probable disease-associated mutations.Results The case showed characteristics of hypokalemia,hypomagnesemia,and low level of urinary calcium and onset by age of 18.By excluding the possibilities of long-term use of thiazide diuretics,laxatives,chronic vomiting and diarrhea,he was finally diagnosed as a case of Gitelman syndrome.Furthermore,by Sanger direct sequencing,2 coding variations were identified in SLC12A3 gene region,including T304M and L488P.L488P was a new heterozygous mutation.Conclusion Detection of SLC12A3 gene mutation could facilitate the diagnosis of Gitelman syndrome and improve prognosis.%目的 分析1例Gitelman综合征患者的临床特点和其SLC12A3基因的突变特点.方法 以1例拟诊断为Gitelman综合征的患者为研究对象,分析其临床表现和辅助检查结果,并行SLC12A3基因及CLCNKB基因检测以明确诊断.结果 该患者青少年起病,临床表现主要有低血钾、低血镁、低尿钙,排除长期使用噻嗪类利尿剂、泻药、慢性呕吐和腹泻可能,诊断为Gitelman综合征.分别对SLC12A3基因和CLCNKB基因采用Sanger直接测序法,在SLC12A3基因上检测到致病突变T304M和L488P,其中L488P被证实是本研究发现的新突变位点.结论 基因检测有助于早期明确诊断Gitelman综合征并改善其预后.

  17. Engineering adeno-associated viruses for clinical gene therapy.

    Science.gov (United States)

    Kotterman, Melissa A; Schaffer, David V

    2014-07-01

    Clinical gene therapy has been increasingly successful owing both to an enhanced molecular understanding of human disease and to progressively improving gene delivery technologies. Among these technologies, delivery vectors based on adeno-associated viruses (AAVs) have emerged as safe and effective and, in one recent case, have led to regulatory approval. Although shortcomings in viral vector properties will render extension of such successes to many other human diseases challenging, new approaches to engineer and improve AAV vectors and their genetic cargo are increasingly helping to overcome these barriers.

  18. Using Disguised Clinical Case Material

    Science.gov (United States)

    Kantrowitz, Judy L.

    2010-01-01

    When, why, and how clinicians decide to write about clients are ethical concerns. There are risks and potential clinical ramifications as well as responsibilities for how these decisions are made. On the basis of 141 interviews with psychoanalysts who have published in 3 major national and international psychoanalytic journals, the author explores…

  19. Stenting:84 Cases of Clinical Application

    Institute of Scientific and Technical Information of China (English)

    GUANG Yongsong

    2002-01-01

    Objective To evaluate clinical application of therapeutic stenting. Methods 84 cases were managed with stents clinically, 136 procedures of intervention in all. The cases were suffering from portal hypertension of cirrhosis, stricture of inferior vana cava, superior vana cava syndrome, post- operative esophageal stricture, narrowig of femoral, common carotid, renal, superior mesentery arteries and biliary tract, etc. Results Therapeutic stenting achieves clinical effects completely different from conventional intemal medicine and surgery. Conclusion Therapeutic stenting is clinically unique, dramatically effective, with minor risks and worthy promoting.

  20. [Astrocytoma and epilepsy. Clinical case].

    Science.gov (United States)

    Moreno-Jiménez, Sergio; Miranda-Fernández, Karen Alejandra; García Gutiérrez, Mónica; Vázquez-Estrada, Norma; Müller-Grohmann, Stephanie; Flores-Vázquez, Fabiola

    2016-07-11

    Pilocytic astrocytoma is a rare tumour, usually occurring in paediatric ages, and mainly located in the posterior fossa. It can cause hydrocephalus and intracranial hypertension and, less frequently, seizures, or a focal neurological deficit. The main imaging study by magnetic resonance imaging, which shows a tumour with solid and cystic components without peri-lesional swelling. The election treatment is surgical, and the patient is considered cured if a total resection is accomplished. The case is presented of 22-year-old female patient with a supratentorial pilocytic astrocytoma and epilepsy. Histopathology reported a low grade glial proliferation, with an extensive fibrillar matrix, small cells without atypia, extensive calcifications and piloid areas consisting of bipolar fusiform cells, and some Rosenthal fibres. There were also spongiotic areas consisting of multipolar cells and associated microcysts. The final report was a pilocytic astrocytoma. Pilocytic astrocytoma is more frequent in paediatric patients and in the posterior fossa. The case presented is of a young female adult with supratentorial location, making it a special case. The surgery achieved a total resection. The long-term prognosis is good, but it is necessary to perform a follow-up, particularly in adult patients because of a higher risk of recurrence. Copyright © 2016 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

  1. [Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor: clinical features, genetic analysis and treatment in a familial case].

    Science.gov (United States)

    Jiang, Hai-Shan; Wang, Dong-Mei; Wang, Qun; Yang, Man; Wang, Wei; Pan, Su-Yue; Hu, Ya-Fang

    2016-06-20

    Mutations in CACNA1A, which encodes the P/Q-type calcium channel subunit, are responsible for at least 3 allelic diseases, namely type 2 episodic ataxia (EA-2), familial hemiplegic migraine?type-1 (FHM1), and spinocerebellar ataxia type-6?(SCA 6). Herein we present a case of ataxia with episodic tremors in a 19-year-old man with a missense mutation of CACNA1A gene and summarize the clinical features, genetic analysis and treatment in this case and in his affected family members. Physical examinations were conducted for the patient and his affected family members. DNA sample from the proband was analyzed with next-generation sequencing technology to identify the causative mutation. Sanger sequencing was used to confirm the gene mutation in the family members. Physical examinations of the patient revealed signs of ataxia, drunken gait, and tremor of his head and body. Four other members in his family had similar but much milder symptoms. A heterozygous missense mutation in CACNA1A (NM_001127221.1 c.4034G->A, p.R1345Q, exon 25) was identified in the proband, which was confirmed in the affected family members. The proband did not respond to methazolamide treatment, but his tremor symptom was well controlled with flunarizine, a calcium channel blocker. Based on the clinical features, mutation analysis and treatment response, we suggest that this patient with a missense CACNA1A mutation, R1345Q, has a new type of ataxia with episodic tremor other than any of EA2, FHM1, or SCA 6.

  2. Duchenne肌营养不良15例临床及基因分析并文献复习%Analysis of clinical and gene mutation on Duchenne muscular dystrophy:15 cases report with ;literature review

    Institute of Scientific and Technical Information of China (English)

    黄艳军; 郭虎; 何燕; 黄子欢; 陈静; 郑帼

    2014-01-01

    Objective To explore the Duchenne muscular dystrophy (DMD) detection of clinical features and gene deletion, and provide a reliable method for further prenatal gene diagnosis. Methods Samples of 15 DMD patients were collected with informed consent. All subjects were obtained from the department of neurology, Nanjing Children's Hospital Affiliated to Nanjing Medical University from 2011 to 2013(male, age 2-14 years old, average 8.1 years old). Multiplex ligation dependent probe amplification (MLPA) technique was applied to detect DMD patients. the related clinical data and gene deletion results gene diagnosis were analyzed retrospectively with review of the literature. Results Duchenne muscular dystrophy patients are generally boys who exhibit symptoms of abnormal gait, muscle weakness, muscle atrophy,calf muscle pseudohypertrophy and the characteristic Gowers' sign. Abnormal increase of serum kinase in children is often associated with abnormal liver function, some patients had abnormal electrocardiogram changes and abnormal ultrasound changes. muscle lesions were observed by electromyography. 15 patients underwent MLPA examination, including 9 cases of detection for exon deletion, gene deletion mutant children accounted for 66.7%, The deletion region is concentrated in 43-55 exons. Conclusion The clinical features of DMD is helpful to improve the clinical diagnosis of the disease, gene analysis provides a reliable basis for clinical diagnosis of DMD, has a high value of diagnosis and genetic counseling.%目的:探讨假肥大型肌营养不良(DMD)的临床特征及基因缺失检测方法,为进一步产前基因诊断提供可靠方法。方法选择2011~2013年在南京儿童医院神经科就诊的15例临床诊断DMD患者(均为男性,就诊年龄2~14岁,平均8.1岁),应用多重连接依赖式探针扩增(MLPA)对患儿进行基因诊断,对经基因确诊的患者的临床相关资料及基因缺失结果进行回顾性分析

  3. ATYPICAL CELIAC DISEASE: A CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    E. A. Roslavtseva

    2012-01-01

    Full Text Available Celiac disease has traditionally been associated with severe malabsorption syndrome. Recent years it was shown that among children of preschool and school-age mild cases with atypical clinical picture were dominated that leads to diagnostic difficulties. Here we are citing an example of an atypical clinical/latent celiac disease course in a child aged 4.5 years.

  4. [Herpetic encephalitis: a clinical case].

    Science.gov (United States)

    Dryhant, L P; Sereda, V H; Kushpiĭ, O V; Tkachenko, V V; Kravchuk, N A; Inhula, N I; Sizina, A V; Sachko, Iu Iu; Andrusenko, A S; Tytenko, Iu I; Babirad, A M

    2012-01-01

    An example of diagnostics and treatment of patient is in-process made with herpetic encephalitis. It is well-proven in researches, that a herpetic encephalitis is 11.5% among sharp encephalitises. Morbidity is sporadic, some researchers specify on an increase its spring. An infection can be passed tiny and pin a way. Seasonal vibrations are not incident to the herpetic encephalitis. Two peaks of morbidity are on 5-30 years and age more senior 50 years. More than in 95% cases the virus of simple herpes of type serves as an exciter of herpetic encephalitis 1. A characteristic triad of herpetic encephalitis is the sharp feverish beginning, development of cramps of dzheksonovskogo type and violation of consciousness, developing usually after a brief respirator infection. Sometimes sudden development of cramps and loss of consciousness is preceded a fever. Example of such development of disease is made an in our work.

  5. [Heterogenous abnormality polymorphism of gene PDGFRB in myeloid neoplasms and its clinical characteristics].

    Science.gov (United States)

    Wang, Quan-Shun; Gao, Li; Jing, Yu; Zhu, Hai-Yan; Yang, Hua; Yu, Li

    2012-04-01

    Myeloid neoplasms with eosinophilia and abnormalities of PDGFRB gene are a new kind of myeloid disorders in the revised 2008 WHO classification. Out of detected 2000 cases of myeloid cell abnormalities in our hospital, 12 cases of myeloid neoplasms with eosinophilia and abnormalities of PDGFRB were found. This study was purposed to summarize and analyze the clinical and laboratorial characteristics of the 12 cases with PDGFRB gene abnormalities. The results indicated that among 12 cases of myeloid neoplasms with PDGFRB abnormalities, 5 cases with TEL/PDGFRB fusion gene, 2 cases with HEPI/PDGFRB, 1 case with PDGFRB mutation, 1 case with RABAPTIN-5/PDGFRB, 1 case with GIT2/PDGFRB, 1 case with TP53/PDGFRB, 1 case with WDR43/PDGFRB fusion gene were detected, showing the polymorphism of PDGFRB gene abnormalities. Among this kind of myeloid neoplasm patients, almost all patients manifested monocytosis and eosinophilia in different degree, the thrombocytosis mainly was observed in atypical myeloid neoplasms, acute leukemia, chromic myelo-monocytic leukemia patients. The treatment with imatinib mesylate for this kind of patients was effective in some cases. It is concluded that the myeloid neoplasms with PDGFRB gene abnormalities are a kind of heterogenetic myeloid neoplasms, their gene abnormal types and clinical manifestations show polymorphism too. The monocytosis and eosinophilia appear in this kind myeloid neoplasms which may be treated with tyrosine kinase inhibitors such as imatinib mesylate.

  6. [Genetic and clinical diagnosis of Angelman syndrome. Case Reviews].

    Science.gov (United States)

    García Ramírez, M; Csanyi, B; Martínez Antón, J; Delgado Marqués, M; Bauzano Poley, E

    2008-09-01

    Angelman syndrome is characterised by mental retardation, epilepsy, speech impairment, facial dysmorphism and a characteristic behavioural phenotype. Diagnostic clinical criteria have been defined by consensus since 1995. It is caused by deficiency or inactivation of the UB3A gene. There is a percentage of cases which satisfy these clinical features but have negative genetic testing. We consider it necessary to analyse the patient characteristics and possible phenotype-genotype correlations. All cases which were treated between 1981 and 2007 in a neurology unit and fulfilled the clinical criteria were included. Genetic diagnosis was made by methylation testing and fluorescent in situ hybridization. Thirteen patients were studied, nine with positive genetic testing and four with negative testing who completed the clinical criteria. The average age at diagnosis was 37 months. Eleven cases showed acquired microcephaly. Flat occiput, mouth and maxillary malformations, hypopigmentation, a happy appearance and hyperactivity were practically constant characteristics. Speech and walking ability were the areas which showed most deficit. Twelve cases had epilepsy. Three of the cases with normal genetic testing showed less microcephaly and better psychomotor development, particularly in walking ability. The phenotypical characteristics of the syndrome should be known before requesting specific genetic testing and to make a diagnosis even in cases with negative genetic. The phenotype characteristics that describe Angelman syndrome were verified. Deletion cases had a worse outcome.

  7. Association of TGFB1 -509C/T polymorphism gene with clinical variability in cystic fibrosis patients: A case-control study.

    Science.gov (United States)

    Oueslati, S; Hadj Fredj, S; Dakhlaoui, B; Othmani, R; Siala, H; Messaoud, T

    2015-09-01

    In this work, we are interested to study the implication of -509C/T polymorphism, located in the promoter region of TGFB1 (transforming growth factor β1), in the phenotypic variability of CF patients. The present study enrolled 111 CF patients and 100 healthy control subjects. The study of the -509C/T polymorphism was performed using PCR-RFLP method. We found that patients carried non-F508del homozygous mutation with TT genotype was associated to lung symptoms (P=0.04). This association was not found in the sub-groups of patients with F508del at homozygous state P=0.145. No association was found between this polymorphism and the variability of digestive, pancreatic and ileus meconial symptoms. On the basis of our results, the -509C/T polymorphism of the TGFB1 gene seems to be a modulator factor of cystic fibrosis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  8. Integrated case learning: teaching clinical reasoning.

    Science.gov (United States)

    Radomski, Natalie; Russell, John

    2010-05-01

    Learning how to 'think like doctors' can be difficult for undergraduate medical students in their early clinical years. Our model of collaborative Integrated Case Learning (ICL) and simulated clinical reasoning aims to address these issues. Taking a socio-cultural perspective, this study investigates the reflective learning interactions and practices of clinical thinking that emerged in the ICL environment. We also explore how third year medical students perceived their ICL experiences in relation to the clinical situations encountered in the hospital setting. The context for the inquiry is a rural Clinical School in North West Victoria, Australia. We used a qualitative case study methodology following eight third-year medical students over an academic year. Individual and group interviews were conducted, together with observations and document/artefact analysis. Data was analysed using content and narrative methods. The ICL program was well received. Findings suggest that the group-based, simulated clinical reasoning process appears to help undergraduate medical students to rehearse, articulate and question their clinical decision-making pathways. We argue that the ICL process offers a professionally challenging, but supportive group learning 'space' for students to practise what it might mean to 'think', 'talk' and 'perform' like doctors in real settings. The ICL environment also appears to create a connective bridge between the 'classroom' and clinical practice.

  9. Juvenile myelomonocytic leukemia:a clinical and gene analysis of 21 cases%幼年粒单细胞白血病21例临床及基因分析

    Institute of Scientific and Technical Information of China (English)

    王凯; 苏雁; 张莉; 廉红云; 张蕊; 吴润晖

    2016-01-01

    Objective To analyze the clinical characteristics of juvenile myelomonocytic leukemia(JMML) and the PCNA levels of the hyperoxia -exposure group (6 h)decreased,and the difference in PCNA protein expres-sion levels was significant of gene diagnose for JMML.Methods Clinical data were retrospectively analyzed in 21 pa-tients suffering from JMML based on new 2009 World Health Organization diagnostic criteria from January 201 3 to June 201 4 in Beijing Children′s Hospital,Capital Medical University.Results There were 85.7% (1 8 /21 cases)patients within 4 -year -old children,and the median age was 23 months (2 -86 months).Fever and abdominal symptoms were the prominent clinical symptoms,52.4% (1 1 /21 cases)with fever,38.1 % (8 /21 cases)with abdominal dis-tention,diarrhea and other abdominal symptoms,80.5% (1 9 /21 cases)had splenomegaly (mild 1 9.1 %,middle 33.3%,severe 38.1 %),and some patients had other tissue infiltration,such as rash,yellow tumor and lymphnode enlargement.Peripheral blood cell count showed that the white blood cells increased because of anemia or thrombocyto-penia,ranging from 1 0.40 ×1 09 /L to 82.1 4 ×1 09 /L(median,26.1 0 ×1 09 /L),and the monocyte counts ranged from 1 .46 ×1 09 /L to 21 .60 ×1 09 /L(median,3.79 ×1 09 /L),characteristics of JMML gene abnormality was detected in 1 7 cases:including 1 1 single gene mutation,and 6 cases with double gene mutations.PTPN11 was the highest frequency of occurrence,accounting for 52.9% (9 /1 7 cases),and NF1 mutation was 35.3% (6 /1 7 cases).All the patients were followed up by phone call,the median follow -up time was 371 days (57 -562 days),6 patients were lost to follow -up,7 patients died,2 patients were alive after hematopoietic stem cell transplantation,1 patient converted to acute non lymphocytic leukemia,and 5 patients were still alive after receiving symptomatic treatment.Among dead cases,PTNT11 gene mutation and NF1 gene mutation were detected in 6 patients;among living children after

  10. [Report of an amyopathic dermatomyositis clinical case].

    Science.gov (United States)

    Monteiro, Paulo; Duarte, Cátia; Salvador, Maria João; Malcata, Armando

    2009-01-01

    The authors report a clinical case of a 41-years-old man with astenia and myalgias maintained for many years without an accurate diagnosis. Amyopathic dermatomyositis was diagnosed based on the presence of typical cutaneous lesions and the absence of myositis. Subsequent evidence of subclinical myositis allowed the diagnosis of hypomyophatic dermatomyositis. Finally, the diagnosis of classical dermatomyositis could be made when the patient presented elevated levels of muscle enzimes. There was a good clinical response to imunossupressor therapy and the patient remains asymptomatic. Differences in the clinical management of amyopathic, hypomyopathic and classic dermatomyositis are discussed.

  11. Marketing and clinical trials: a case study.

    Science.gov (United States)

    Francis, David; Roberts, Ian; Elbourne, Diana R; Shakur, Haleema; Knight, Rosemary C; Garcia, Jo; Snowdon, Claire; Entwistle, Vikki A; McDonald, Alison M; Grant, Adrian M; Campbell, Marion K

    2007-11-20

    Publicly funded clinical trials require a substantial commitment of time and money. To ensure that sufficient numbers of patients are recruited it is essential that they address important questions in a rigorous manner and are managed well, adopting effective marketing strategies. Using methods of analysis drawn from management studies, this paper presents a structured assessment framework or reference model, derived from a case analysis of the MRC's CRASH trial, of 12 factors that may affect the success of the marketing and sales activities associated with clinical trials. The case study demonstrates that trials need various categories of people to buy in - hence, to be successful, trialists must embrace marketing strategies to some extent. The performance of future clinical trials could be enhanced if trialists routinely considered these factors.

  12. Mapping gene associations in human mitochondria using clinical disease phenotypes.

    Directory of Open Access Journals (Sweden)

    Curt Scharfe

    2009-04-01

    Full Text Available Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical phenotypes. Such a catalog would be useful to develop methods to analyze human phenotypic data, to determine genotype-phenotype relations among many genes and diseases, and to support the clinical diagnosis of mitochondrial disorders. Here we establish a clinical phenotype catalog of 174 mitochondrial disease genes and study associations of diseases and genes. Phenotypic features such as clinical signs and symptoms were manually annotated from full-text medical articles and classified based on the hierarchical MeSH ontology. This classification of phenotypic features of each gene allowed for the comparison of diseases between different genes. In turn, we were then able to measure the phenotypic associations of disease genes for which we calculated a quantitative value that is based on their shared phenotypic features. The results showed that genes sharing more similar phenotypes have a stronger tendency for functional interactions, proving the usefulness of phenotype similarity values in disease gene network analysis. We then constructed a functional network of mitochondrial genes and discovered a higher connectivity for non-disease than for disease genes, and a tendency of disease genes to interact with each other. Utilizing these differences, we propose 168 candidate genes that resemble the characteristic interaction patterns of mitochondrial disease genes. Through their network associations, the candidates are further prioritized for the study of specific disorders such as optic neuropathies and Parkinson disease. Most mitochondrial disease phenotypes involve several clinical categories including neurologic, metabolic, and gastrointestinal disorders, which might indicate the effects of gene defects

  13. Dentine in a capsule: Clinical case reports

    Directory of Open Access Journals (Sweden)

    Mallikarjuna Kenchappa

    2015-01-01

    Full Text Available Biodentine TM , a calcium silicate based material has been popular now and can be used as an alternative to mineral trioxide aggregate (MTA due to superior physical and biologic properties. It has been known by several terms as Biodentine, dentin substitute, and RD 94. It has varied clinical applications such as apexification, apexogenesis, pulpotomy, internal resorption, root perforation repair, retrograde filling, pulp capping procedure, and dentin replacement. This article describes the clinical case reports using Biodentine in apexification, apexogenesis, pulpotomy, and root perforation repair.

  14. Interested Cases Encountered in the Breast Clinic

    Energy Technology Data Exchange (ETDEWEB)

    Kwak, Jin Young; Lee, Seung Hee; Jung, Hae Kyoung; Kwon, Tae Hee [CHA General Hospital, Pochon CHA University College of Medicine, Pocheon (Korea, Republic of); Chung, Sun Yang [Seoul National University Bundang Hospital, Seongnam (Korea, Republic of)

    2005-09-15

    Many patients present to the breast clinic with variable symptoms. The degree of palpability is the important symptom for patients and clinicians. Both mammography and ultrasonography play an important role in the diagnosis of breast diseases by indicating the cause of the symptoms and aiding in the selection of treatment for the disease. Sometimes, however, we meet unexpected results. In this paper, we will illustrate the ultrasonographic and mammographic findings of interesting, unusual or perplexing breast cases in order to familiarize ourselves with these breasts through these cases and thereby assist in future diagnosis

  15. Graves Disease And Down Sindrome : Clinical Case

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    Scrinic Olesea

    2015-08-01

    Full Text Available Introduction: Pacients with Down’s syndrome present an increase revalence of autoimune endocrine disorders. We communicate the case of 14 years and 6 months old pacient known with Down syndrome admitted in Endocrinology department with suspicion of hyperthyroidism, the diagnosis being confirmed by hormonal dosage. The particularity of the case consists in: symptomatology onset during puberty, clinical evolution with mild symptoms, without ocular involvement, morphological and functional remission obtained relatively soon after the initiation of antithyroid therapy, lack of posttherapy side effects, favorabile evolution under the “block and replace” therapy

  16. Clinical crown lengthening - a case report.

    Science.gov (United States)

    Lipska, Weronika; Lipski, Marcin; Lisiewicz, Małgorzata; Gala, Andrzej; Gronkiewicz, Krzysztof; Darczuk, Dagmara; Chomyszyn-Gajewska, Maria

    2015-01-01

    Maintaining healthy parodontium during teeth restoration procedures is an indispensable condition for obtain- ing regular functionning and esthetics. Thus, the knowledge of correct anatomy and the influence of filling and complement on paradontium tissue is vital. Difficulty in maintaining appropriate gingival biological width (GBW) is a frequent problem encountered in this type of reconstruction. Preservation of unchanged biological width conditions predictible treatment result and, what is more, lack of inflammatory lesions in marginal parodontium. The ideal situation for parodontium is localizing the filling/complement border supragingivaly, which is at least 3 mm from alveolar process edge. In the case, when the above conditions are impossible to fulfil, elongation of clinical crown is a metod of choice. The effect is possible to achieve by surgical treatment or combined orthodontic - surgical treatment. Surgical treatment is faster and preferred procedure for indirect reconstruction, where achieving high clinical crown is necessary. Three clinical cases of performing method of surgical clinical crown elongation were presented in the article. Performing the described procedure enables correct tooth crown reconstruction and, what is most important, keeping individual toothing.

  17. Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

    Science.gov (United States)

    Wang, Xia; Feng, Yanming; Li, Jianli; Zhang, Wei; Wang, Jing; Lewis, Richard A; Wong, Lee-Jun

    2016-01-01

    When seeking a confirmed molecular diagnosis in the research setting, patients with one descriptive diagnosis of retinal disease could carry pathogenic variants in genes not specifically associated with that description. However, this event has not been evaluated systematically in clinical diagnostic laboratories that validate fully all target genes to minimize false negatives/positives. We performed targeted next-generation sequencing analysis on 207 ocular disease-related genes for 42 patients whose DNA had been tested negative for disease-specific panels of genes known to be associated with retinitis pigmentosa, Leber congenital amaurosis, or exudative vitreoretinopathy. Pathogenic variants, including single nucleotide variations and copy number variations, were identified in 9 patients, including 6 with variants in syndromic retinal disease genes and 3 whose molecular diagnosis could not be distinguished easily from their submitted clinical diagnosis, accounting for 21% (9/42) of the unsolved cases. Our study underscores the clinical and genetic heterogeneity of retinal disorders and provides valuable reference to estimate the fraction of clinical samples whose retinal disorders could be explained by genes not specifically associated with the corresponding clinical diagnosis. Our data suggest that sequencing a larger set of retinal disorder related genes can increase the molecular diagnostic yield, especially for clinically hard-to-distinguish cases.

  18. High Prevalence and Clinical Relevance of Genes Affected by Chromosomal Breaks in Colorectal Cancer.

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    Evert van den Broek

    Full Text Available Cancer is caused by somatic DNA alterations such as gene point mutations, DNA copy number aberrations (CNA and structural variants (SVs. Genome-wide analyses of SVs in large sample series with well-documented clinical information are still scarce. Consequently, the impact of SVs on carcinogenesis and patient outcome remains poorly understood. This study aimed to perform a systematic analysis of genes that are affected by CNA-associated chromosomal breaks in colorectal cancer (CRC and to determine the clinical relevance of recurrent breakpoint genes.Primary CRC samples of patients with metastatic disease from CAIRO and CAIRO2 clinical trials were previously characterized by array-comparative genomic hybridization. These data were now used to determine the prevalence of CNA-associated chromosomal breaks within genes across 352 CRC samples. In addition, mutation status of the commonly affected APC, TP53, KRAS, PIK3CA, FBXW7, SMAD4, BRAF and NRAS genes was determined for 204 CRC samples by targeted massive parallel sequencing. Clinical relevance was assessed upon stratification of patients based on gene mutations and gene breakpoints that were observed in >3% of CRC cases.In total, 748 genes were identified that were recurrently affected by chromosomal breaks (FDR 3% of cases, indicating that prevalence of gene breakpoints is comparable to the prevalence of well-known gene point mutations. Patient stratification based on gene breakpoints and point mutations revealed one CRC subtype with very poor prognosis.We conclude that CNA-associated chromosomal breaks within genes represent a highly prevalent and clinically relevant subset of SVs in CRC.

  19. The clinical case for proton beam therapy

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    Foote Robert L

    2012-10-01

    Full Text Available Abstract Over the past 20 years, several proton beam treatment programs have been implemented throughout the United States. Increasingly, the number of new programs under development is growing. Proton beam therapy has the potential for improving tumor control and survival through dose escalation. It also has potential for reducing harm to normal organs through dose reduction. However, proton beam therapy is more costly than conventional x-ray therapy. This increased cost may be offset by improved function, improved quality of life, and reduced costs related to treating the late effects of therapy. Clinical research opportunities are abundant to determine which patients will gain the most benefit from proton beam therapy. We review the clinical case for proton beam therapy. Summary sentence Proton beam therapy is a technically advanced and promising form of radiation therapy.

  20. Adult-onset Still's disease: Clinical cases

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    G. R. Imametdinova

    2014-01-01

    Full Text Available The annual incidence of adult-onset Still's disease (AOSD worldwide is 0.16 cases per 100,000 persons. Its leading symptoms are joint involvement, fever, skin rash, and neutrophilic leukocytosis in the absence of rheumatoid factor and anticyclic citrullinated peptide antibodies in serum and synovial fluid. In its initial stage, there may be monoarthritis more commonly of the wrist, hip, or knee. Then the lesion assumes the pattern of oligo- or polyarthritis. Musculoskeletal involvement appearing as arthralgia, arthritis, and myalgia is noted in all patients. In the majority of patients, articular involvement progresses and destructive polyarthritis develops. Symmetric involvement of the carpophalangeal and distal interphalangeal joints is frequently detected. Skin lesion manifests itself as maculopapular or roseolous rashes on the chest, back, shoulders, occasionally on the legs, or in the areas of mechanical irritation. A sore throat with the signs of pharyngitis is a characteristic early symptom of the disease. There may be involvements of the liver, cardiovascular system, lung, as well as lymphadenopathy, or splenomegaly. The chronic course of the disease is more frequently noted.The paper describes two cases of AOSD. One case demonstrates that the physician has no experience in diagnosing and managing patients with AOSD, resulting in the misinterpretation of the increase in disease activity when the subclinical doses of methotrexate (MT are used, which has been regarded as a therapeutic complication. The use of the adequate dose of MT could achieve a clinical and laboratory remission and discontinue glucocorticoids (GC.In the other case of recurrent AOSD and mild clinical symptoms, the unreasonable use of high GC doses gave rise to adverse reactions.

  1. Adult-onset Still's disease: Clinical cases

    Directory of Open Access Journals (Sweden)

    G. R. Imametdinova

    2014-12-01

    Full Text Available The annual incidence of adult-onset Still's disease (AOSD worldwide is 0.16 cases per 100,000 persons. Its leading symptoms are joint involvement, fever, skin rash, and neutrophilic leukocytosis in the absence of rheumatoid factor and anticyclic citrullinated peptide antibodies in serum and synovial fluid. In its initial stage, there may be monoarthritis more commonly of the wrist, hip, or knee. Then the lesion assumes the pattern of oligo- or polyarthritis. Musculoskeletal involvement appearing as arthralgia, arthritis, and myalgia is noted in all patients. In the majority of patients, articular involvement progresses and destructive polyarthritis develops. Symmetric involvement of the carpophalangeal and distal interphalangeal joints is frequently detected. Skin lesion manifests itself as maculopapular or roseolous rashes on the chest, back, shoulders, occasionally on the legs, or in the areas of mechanical irritation. A sore throat with the signs of pharyngitis is a characteristic early symptom of the disease. There may be involvements of the liver, cardiovascular system, lung, as well as lymphadenopathy, or splenomegaly. The chronic course of the disease is more frequently noted.The paper describes two cases of AOSD. One case demonstrates that the physician has no experience in diagnosing and managing patients with AOSD, resulting in the misinterpretation of the increase in disease activity when the subclinical doses of methotrexate (MT are used, which has been regarded as a therapeutic complication. The use of the adequate dose of MT could achieve a clinical and laboratory remission and discontinue glucocorticoids (GC.In the other case of recurrent AOSD and mild clinical symptoms, the unreasonable use of high GC doses gave rise to adverse reactions.

  2. Human reporter genes: potential use in clinical studies

    Energy Technology Data Exchange (ETDEWEB)

    Serganova, Inna [Department of Neurology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021 (United States); Ponomarev, Vladimir [Department of Radiology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021 (United States); Blasberg, Ronald [Department of Neurology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021 (United States); Department of Radiology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021 (United States)], E-mail: blasberg@neuro1.mskcc.org

    2007-10-15

    The clinical application of positron-emission-tomography-based reporter gene imaging will expand over the next several years. The translation of reporter gene imaging technology into clinical applications is the focus of this review, with emphasis on the development and use of human reporter genes. Human reporter genes will play an increasingly more important role in this development, and it is likely that one or more reporter systems (human gene and complimentary radiopharmaceutical) will take leading roles. Three classes of human reporter genes are discussed and compared: receptors, transporters and enzymes. Examples of highly expressed cell membrane receptors include specific membrane somatostatin receptors (hSSTrs). The transporter group includes the sodium iodide symporter (hNIS) and the norepinephrine transporter (hNET). The endogenous enzyme classification includes human mitochondrial thymidine kinase 2 (hTK2). In addition, we also discuss the nonhuman dopamine 2 receptor and two viral reporter genes, the wild-type herpes simplex virus 1 thymidine kinase (HSV1-tk) gene and the HSV1-tk mutant (HSV1-sr39tk). Initial applications of reporter gene imaging in patients will be developed within two different clinical disciplines: (a) gene therapy and (b) adoptive cell-based therapies. These studies will benefit from the availability of efficient human reporter systems that can provide critical monitoring information for adenoviral-based, retroviral-based and lenteviral-based gene therapies, oncolytic bacterial and viral therapies, and adoptive cell-based therapies. Translational applications of noninvasive in vivo reporter gene imaging are likely to include: (a) quantitative monitoring of gene therapy vectors for targeting and transduction efficacy in clinical protocols by imaging the location, extent and duration of transgene expression; (b) monitoring of cell trafficking, targeting, replication and activation in adoptive T-cell and stem/progenitor cell therapies

  3. Clinical Approach in Orbital Cellulitis Cases: Case Series

    Directory of Open Access Journals (Sweden)

    Altan Atakan Özcan

    2012-07-01

    Full Text Available Pur po se: To evaluate the etiological factors, diagnosis, follow-up and treatment procedures in cases of orbital cellulitis. Ma te ri al and Met hod: A retrospective review was performed on medical records of patients with orbital cellulitis treated between 2009 and 2011 in our clinic. The patients were studied for age, ophthalmologic examination features, laboratory and radiology results, treatment modalities and the response to these treatments. Re sults: Eleven patients (7 male, 4 female having an average age of 9.7 years (6 months-25 years participated in the study. All patients had eyelid oedema, hyperemia and ocular pain; with chemosis in 3, gaze restriction in 6, relative afferent pupillary defect and proptosis in 4 cases. Orbital cellulitis was observed to occur secondary to paranasal sinusitis in 10 patients (90.9% and 1 patient had only history of superior respiratory tract infection. Sinus infection was localized in ethmoid and maxillary sinuses in all except one case. Laboratory tests showed leukocytosis in 8 patients. Surgical drainage was performed in 7 of 8 patients with abscess formation observed with radiological imaging. The remainder of the patients were followed with sole medical treatment. All patients recovered without any vision loss or life-threatening complication. Dis cus si on: Orbital cellulitis cases must be followed with radiologic imaging for any complication that may occur and patients with abscess should be evaluated for surgical drainage besides antimicrobial treatment.(Turk J Ophthalmol 2012; 42: 284-7

  4. Clinical applications of CO2 lasers: clinical cases

    Science.gov (United States)

    Sinibaldi, Kenneth R.

    1994-09-01

    The most common surgery performed in our clinic with the CO2 laser is the cutting and vaporization of neoplasms associated with the head and neck, in particular, the squamous cell carcinoma in the cat. A majority of the tumors are malignant and 50% are metastatic at the time of presentation for surgery. Experience has taught us that early detection and removal with the CO2 laser affords the best prognosis. To date, roughly 100 cases have been treated with the CO2 laser. The success rate in the dog is not as rewarding as in the cat. Most cases were done with 5 - 10 watts of power continuous or pulsed wave, using a 125 mm or 50 mm handpiece. The laser beam was focused or defocused to adjust for cutting, vaporization, and coagulation. No post-op care of the wounds was recommended. Other small neoplasms in and around the ears, head, and neck can also be removed easily with the CO2 laser.

  5. Gene therapy clinical trials worldwide to 2012 - an update.

    Science.gov (United States)

    Ginn, Samantha L; Alexander, Ian E; Edelstein, Michael L; Abedi, Mohammad R; Wixon, Jo

    2013-02-01

    To date, over 1800 gene therapy clinical trials have been completed, are ongoing or have been approved worldwide. Our database brings together global information on gene therapy clinical trials from official agency sources, published literature, conference presentations and posters kindly provided to us by individual investigators or trial sponsors. This review presents our analysis of clinical trials that, to the best of our knowledge, have been or are being performed worldwide. As of our June 2012 update, we have entries on 1843 trials undertaken in 31 countries. We have analysed the geographical distribution of trials, the disease indications (or other reasons) for trials, the proportions to which different vector types are used, and which genes have been transferred. Details of the analyses presented, and our searchable database are available on The Journal of Gene Medicine Gene Therapy Clinical Trials Worldwide website at: http://www.wiley.co.uk/genmed/clinical. We also provide an overview of the progress being made in clinical trials of gene therapy approaches around the world and discuss the prospects for the future.

  6. Multiple malignant tumors – a clinical case

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    Daciana N. Chirilă

    2012-06-01

    Full Text Available Objective: We present a clinical case of an old woman who suffered at different ages surgical excisions for three different primarymalignant tumors. The patient is now 86 years old. She was diagnosed at the age of 35 with a malignant tumor of the corpus uteri, and thenwhen she was 78 with a basocellular carcinoma of the nose skin and at 81 she was diagnosed with an ascendant large bowel adenocarcinoma.Despite the occurrence of three different tumors she is alive five years later and cancer-free, but suffering because of other medical diseasesincluding diabetes, hypertension, myocardial ischemia and migraines. Conclusion: a patient diagnosed with a cancer and who survive from itmust be submitted to periodically medical controls because of the possibility to develop several other cancers. With an increasing survival inpatients after malignant tumors therapy, there is an increased risk to develop other cancers as the patients are getting older.

  7. State-of-the-art human gene therapy: part II. Gene therapy strategies and clinical applications.

    Science.gov (United States)

    Wang, Dan; Gao, Guangping

    2014-09-01

    In Part I of this Review (Wang and Gao, 2014), we introduced recent advances in gene delivery technologies and explained how they have powered some of the current human gene therapy applications. In Part II, we expand the discussion on gene therapy applications, focusing on some of the most exciting clinical uses. To help readers to grasp the essence and to better organize the diverse applications, we categorize them under four gene therapy strategies: (1) gene replacement therapy for monogenic diseases, (2) gene addition for complex disorders and infectious diseases, (3) gene expression alteration targeting RNA, and (4) gene editing to introduce targeted changes in host genome. Human gene therapy started with the simple idea that replacing a faulty gene with a functional copy can cure a disease. It has been a long and bumpy road to finally translate this seemingly straightforward concept into reality. As many disease mechanisms unraveled, gene therapists have employed a gene addition strategy backed by a deep knowledge of what goes wrong in diseases and how to harness host cellular machinery to battle against diseases. Breakthroughs in other biotechnologies, such as RNA interference and genome editing by chimeric nucleases, have the potential to be integrated into gene therapy. Although clinical trials utilizing these new technologies are currently sparse, these innovations are expected to greatly broaden the scope of gene therapy in the near future.

  8. Clinical Application of Fluorescence in Situ Hybridization (FISH) to Detect HER-2 Gene in Breast Cancer

    Institute of Scientific and Technical Information of China (English)

    Maurie Buehler; Ellie Guardino; Jung Sik Park; Eun Jeong Jang

    2014-01-01

    Objective: To investigate the clinical application of the detection of HER-2 gene by lfuorescence in situ hybridization (FISH) in breast cancer and the correlation between HER-2 gene ampliifcation and clinicopathology of breast cancer. Methods:Parafifn-embedded breast inifltrating ductal carcinoma from 48 patients were detected by FISH and immunohistochemistry (IHC) respectively for comparing the results of two methods. Results: HER-2 protein expressions were classified into three groups (3+/2+/1+ or 0) and the positive rates of HER-2 gene ampliifcation by FISH were 77.8%, 57.1% and 10.5%, respectively. Of the 29 cases with positive axillary lymph node, 12 were with HER-2 gene ampliifcation (P0.05). Conclusion:The false positive and negative rates are higher in HER-2 protein expression by IHC. Compared with IHC, FISH, being more effective and precise, can be applied extensively in clinic. HER-2 gene ampliifcation is concerned with axillary nodes metastases.

  9. Clinical applications of gene therapy for primary immunodeficiencies.

    Science.gov (United States)

    Cicalese, Maria Pia; Aiuti, Alessandro

    2015-04-01

    Primary immunodeficiencies (PIDs) have represented a paradigmatic model for successes and pitfalls of hematopoietic stem cells gene therapy. First clinical trials performed with gamma retroviral vectors (γ-RV) for adenosine deaminase severe combined immunodeficiency (ADA-SCID), X-linked SCID (SCID-X1), and Wiskott-Aldrich syndrome (WAS) showed that gene therapy is a valid therapeutic option in patients lacking an HLA-identical donor. No insertional mutagenesis events have been observed in more than 40 ADA-SCID patients treated so far in the context of different clinical trials worldwide, suggesting a favorable risk-benefit ratio for this disease. On the other hand, the occurrence of insertional oncogenesis in SCID-X1, WAS, and chronic granulomatous disease (CGD) RV clinical trials prompted the development of safer vector construct based on self-inactivating (SIN) retroviral or lentiviral vectors (LVs). Here we present the recent results of LV-mediated gene therapy for WAS showing stable multilineage engraftment leading to hematological and immunological improvement, and discuss the differences with respect to the WAS RV trial. We also describe recent clinical results of SCID-X1 gene therapy with SIN γ-RV and the perspectives of targeted genome editing techniques, following early preclinical studies showing promising results in terms of specificity of gene correction. Finally, we provide an overview of the gene therapy approaches for other PIDs and discuss its prospects in relation to the evolving arena of allogeneic transplant.

  10. Ameloblastoma: Our clinical experience with 68 cases

    Directory of Open Access Journals (Sweden)

    Benjamin Fomete

    2014-01-01

    Full Text Available Introduction: In this environment, previous workers have reported on the challenges of managing large sized ameloblastoma of the jaws with less than adequate facilities. The aim of this review is to present the management of 68 cases of ameloblastoma with emphasis on surgical care. Materials and Methods: Retrospective survey of case notes of patients with histopathologic diagnosis of ameloblastoma (using the criteria of Barnes et al., 2005 seen between January 2006 and August 2010 at the Maxillofacial Unit, Ahmadu Bello University Teaching Hospital, Shika-Zaria, Nigeria was undertaken. Data collected includes histopathological diagnosis, age, gender, clinical information on site of lesion, form of intubation and surgical procedure performed. Results: Out of 94 patients, 68 with histological diagnosis of ameloblastoma (59 mandibular and 9 maxillary were operated within the study period. The remainder (26 was not treated in hospital. Among 68 patients treated, more were males (38 than females (30, giving a male to female ratio of 1.3:1. The age range was between 14 and 74 years (mean-standard deviation. The duration of the symptoms ranged from 7 months to 24 years, most were follicular ameloblastoma (n = 13 followed by acanthomatous type (n = 7. Endotracheal intubation was the most common (n = 55 followed by fiber optic laryngoscopy (n = 8. The surgical approach most used was extended Risdon with intraoral (n = 24 followed by extended Risdon with lip split and intraoral (n = 17. Segmental resection (en block formed the bulk of our procedures (n = 22 followed by subtotal mandibulectomy (n = 16. Conclusion: The treatment of ameloblastoma remains controversial. Its destructive nature has left patients with wide defects difficult to reconstruct.

  11. Concepts of Causality in Psychopathology: Applications in Clinical Assessment, Clinical Case Formulation and Functional Analysis

    NARCIS (Netherlands)

    Haynes, S.H.; O'Brien, W.H.; Kaholokula, J.K.; Witteman, C.L.M.

    2012-01-01

    This paper discusses and integrates concepts of causality in psychopathology, clinical assessment, clinical case formulation and the functional analysis. We propose that identifying causal variables, relations and mechanisms in psychopathology and clinical assessment can lead to more powerful and e

  12. Using Clinical Gait Case Studies to Enhance Learning in Biomechanics

    Science.gov (United States)

    Chester, Victoria

    2011-01-01

    Clinical case studies facilitate the development of clinical reasoning strategies through knowledge and integration of the basic sciences. Case studies have been shown to be more effective in developing problem-solving abilities than the traditional lecture format. To enhance the learning experiences of students in biomechanics, clinical case…

  13. [Neonatal Dengue. Presentation of clinical cases].

    Science.gov (United States)

    Romero-Santacruz, Edith; Lira-Canul, Janeth Jaqueline; Pacheco-Tugores, Fredy; Palma-Chan, Adolfo Gonzalo

    2015-05-01

    Dengue is an infectious disease caused by a flavivirus, with four serotypes, transmitted by the mosquito Aedes aegypti. In Mexico it is a public health problem, especially in the region of central and southeast of the country. The disease can be asymptomatic or present serious forms and even death. It is confirmed by detection of the NS1 Antigen; IgM antibodies, polymerase chain reaction and virus isolation. The vertical transmission to de newborn has been little studied. 7 cases in neonates from November to December 2011 are reported. All patients were male, obtained by caesarean section between 34 and 40 weeks of gestation, whose mothers were enrolled with fever and symptoms associated with dengue disease and serology positive for dengue. Six with positive AgNS1 and one positive IgM; one mother died. All the newborns had positive serology for dengue, 4 with positive AgNS1 and 3 positive IgM. The clinical features of the newborn ranged from asymptomatic to one serious dengue fever, shock and hemorrhage. The symptomatic 6 attended with thrombocytopenia, changes in temperature and unspecific disturbance. The severity of mothers conditioned disrepair product at birth, but not with subsequent gravity of the new born. Vertical trasmission of dengue should be suspected in risk areas, to maintain vigilance and to give early treatment. Also is neccesary promote the realization of specific diagnostic and therapeutic guidelines to the neonatal period.

  14. Clinical Applications of Gene Therapy for Primary Immunodeficiencies

    OpenAIRE

    2015-01-01

    Primary immunodeficiencies (PIDs) have represented a paradigmatic model for successes and pitfalls of hematopoietic stem cells gene therapy. First clinical trials performed with gamma retroviral vectors (γ-RV) for adenosine deaminase severe combined immunodeficiency (ADA-SCID), X-linked SCID (SCID-X1), and Wiskott–Aldrich syndrome (WAS) showed that gene therapy is a valid therapeutic option in patients lacking an HLA-identical donor. No insertional mutagenesis events have been observed in mor...

  15. RANDOMIZED CLINICAL TRIAL IN CHIKUNGUNYA ARTHRITIS CASES

    Directory of Open Access Journals (Sweden)

    Mansoor

    2012-11-01

    Full Text Available ABSTRACT: Chikungunya virus is no stranger to the Indian sub- continent. Since its first isolation in Calcutta [1] in 1963, there have been several reports of chikung unya virus infection in different parts of India [2], [3], [4]. The last outbreak of chikungunya virus infection o ccurred in India in 1971. Subsequently there has been no activ e or passive surveillance carried out in the country and therefore, it ‘seemed’ that the virus h ad ‘disappeared’ from the subcontinent [5] However, recent reports of large scale outbreaks of fever caused by chikungunya virus infection in several parts of Southern India have confirmed th e re-emergence of this virus. It has been estimated that over 1,80,000 cases have occurred in India since December 2005 [6] Andhra Pradesh (AP was the first state to report this dise ase in December 2005, and one of the worst affected (over 80,000 suspected cases . Over 12% of patients who contract chikungunya virus infection develop chronic joint symptoms [7] . OBJECTIVE: To test the efficacy of chloroquine in reducing the pain of chikungunya induced arthritis a s compared to paracetamol. METHODOLOGY: A Randomized Clinical Trial was carried out in a c ommunity attached to urban health centre of PESIMSR, Kuppam during August 2006. Among the 132 cases of arthritis, 86 persons were selected based on their availability and consent to participate. They were divided into two randomly assigned groups namely Cat egory–1(Chloroquine group and Category–2 ( Paracetamol group. Chloroquine tablet -155 mg and Paracetamol tablet - 500 mg were administered as a single dose to the two groups respectively. The groups were followed up for 8 days and the results were analyzed. STATISTICAL ANALYSIS: Analysis was carried out by using S.P.S.S. package. Asymptoic test statistic an d X 2 MH (Chi square test were used to evaluate the effect of the drugs. RESULTS OF THE STUDY: The decrease of pain in chikungunya arthritis cases was

  16. Heart failure gene therapy: the path to clinical practice.

    Science.gov (United States)

    Pleger, Sven T; Brinks, Henriette; Ritterhoff, Julia; Raake, Philip; Koch, Walter J; Katus, Hugo A; Most, Patrick

    2013-08-30

    Gene therapy, aimed at the correction of key pathologies being out of reach for conventional drugs, bears the potential to alter the treatment of cardiovascular diseases radically and thereby of heart failure. Heart failure gene therapy refers to a therapeutic system of targeted drug delivery to the heart that uses formulations of DNA and RNA, whose products determine the therapeutic classification through their biological actions. Among resident cardiac cells, cardiomyocytes have been the therapeutic target of numerous attempts to regenerate systolic and diastolic performance, to reverse remodeling and restore electric stability and metabolism. Although the concept to intervene directly within the genetic and molecular foundation of cardiac cells is simple and elegant, the path to clinical reality has been arduous because of the challenge on delivery technologies and vectors, expression regulation, and complex mechanisms of action of therapeutic gene products. Nonetheless, since the first demonstration of in vivo gene transfer into myocardium, there have been a series of advancements that have driven the evolution of heart failure gene therapy from an experimental tool to the threshold of becoming a viable clinical option. The objective of this review is to discuss the current state of the art in the field and point out inevitable innovations on which the future evolution of heart failure gene therapy into an effective and safe clinical treatment relies.

  17. Pulmonary mycoses among the clinically suspected cases of pulmonary tuberculosis

    OpenAIRE

    Tshering Ongmu Bhutia; Luna Adhikari

    2015-01-01

    Background: This study was carried with the main objectives: (1) to find out the occurrence of pulmonary mycoses in clinically suspected pulmonary tuberculosis cases at central referral hospital, Tadong, Sikkim. (2) To find out the various fungi causing pulmonary mycoses in clinically suspected pulmonary tuberculosis cases. Methods: 200 clinically suspected pulmonary tuberculosis cases who visited the department of microbiology for the diagnostic microscopic examination of sputum sample f...

  18. Latex allergy in dentistry: clinical cases report

    NARCIS (Netherlands)

    Raggio, D.P.; Camargo, L.B.; Naspitz, G.M.C.C.; Politano, G.T.; Bonifacio, C.C.; Mendes, F.M.; Kierstman, F.

    2010-01-01

    Generally natural rubber latex (NRL) allergy is detected after some exposition to the material. As NRL is commonly found in different materials used daily in dental clinic, the allergy can be manifested in the pediatric dentistry clinic. The first clinical manifestation can be smooth but also severe

  19. Latex allergy in dentistry: clinical cases report

    NARCIS (Netherlands)

    Raggio, D.P.; Camargo, L.B.; Naspitz, G.M.C.C.; Politano, G.T.; Bonifacio, C.C.; Mendes, F.M.; Kierstman, F.

    2010-01-01

    Generally natural rubber latex (NRL) allergy is detected after some exposition to the material. As NRL is commonly found in different materials used daily in dental clinic, the allergy can be manifested in the pediatric dentistry clinic. The first clinical manifestation can be smooth but also

  20. Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.

    Science.gov (United States)

    Kim, Hunmin; Hwang, Hee; Cheong, Hae Il; Park, Hye Won

    2011-11-01

    Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes (CACNA1Sp.Arg528His and SCN4A p.Arg672His). Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of SCN4A mutations and CACNA1S mutations. We identified p.Arg672His in the SCN4A gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment.

  1. POLYMERASE CHAIN REACTION FOR THE DETECTION OF TOXIN A ( TCD A AND TOXIN B ( TCD B GENES OF CLOSTRIDIUM DIFFICILE ISOLATED FROM DIARRHOEAL CASES AND ANALYSIS OF THE CLINICAL SPECTRUM

    Directory of Open Access Journals (Sweden)

    Sherin

    2015-04-01

    Full Text Available BACKGROUND: Molecular methods for detection of toxigenic Clostridium difficile have been established in the developed countries though not very common in our country. AIMS: The study was intended to determine the presence of toxin A and toxin B genes of Clostridium difficile isolates by means of polymerase chain reaction (PCR and a nalysis of clinical picture of the patients. MATERIALS AND METHODS: The prospective study was conducted in a tertiary care teaching hospital, South India from January 2012 to December 2014. Stool samples were collected consecutively from 563 in patients with diarrhoea from various wards. Clostridium difficile was isolated and identified by semi quantitative culture, latex agglutination and biochemical reactions. These isolates were then subjected to PCR for the detection of toxin A and toxin B genes. In addition, enzyme immunoassay was performed on stool samples for the detection of toxins A and B. The clinical spectrum of PCR positive patients was also analyzed. RESULTS: From 563 stool specimens, 113 (20. 07% Clostridium difficile isolates wer e grown by culture and identified by latex agglutination and biochemical reactions. Out of 113 isolates, 94 were subjected to PCR. 50 (53. 19% isolates out of 94 were found to be positive. Three toxigenic types obtained were A + B + , A - B + and A + B - which accou nted for 6. 38%, 42.55% and 4. 26% respectively. A - B - isolates were 46. 81%. 30 (26.55% out of 113 stool samples (which were culture positive was also enzyme immunoassay positive. 32 (64% out of 50 PCR positive patients e xhibited antibiotic usage (p<0. 05 and 39 (78% revealed the presence of underl ying illnesses/conditions (p<0. 01. CONCLUSION: The study highlights the usefulness of PCR for detection of toxigenic Clostridium difficile and for determination of its molecular epidemiology.

  2. Molecular Screening of Staphylococcal Enterotoxin B Gene in Clinical Isolates

    Directory of Open Access Journals (Sweden)

    Ali Karami

    2011-01-01

    Full Text Available Objective: The role of staphylococcal enterotoxin B (SEB in food poisoning is well known,however its role in other diseases remains to be explored. The aim of this study is the molecularscreening and characterization of the SEB gene in clinically isolated strains.Materials and Methods: In this experimentally study, 300 Staphylococcus aureus (S.aureus strains isolated from clinical samples were assayed. The isolated strains wereconfirmed by conventional bacteriological methods. Polymerase chain reaction (PCRwas used to determine the enterotoxin B (ent B gene. Assessment of toxin productionin all strains that contained the ent B gene was then performed. Finally, using specificantibody against SEB, a Western-blot was applied to confirm detection of enterotoxin Bproduction.Results: Results indicated that only 5% of the 300 clinically isolated S. aureus containedthe ent B gene. All strains which contained the ent B gene produced a proteinous enterotoxinB. The results of sequence determination of the PCR product were compared withthe gene bank database and 98% similarity was achieved. The results of the Western-blotconfirmed that enterotoxin B was produced in strains that contained the ent B gene.Conclusion: The results of this study indicate that 5% of clinically isolated S. aureusstrains produce enterotoxin B. Considering that the enterotoxin B is an important superantigen,it is possible that a delay in diagnosis and lack of early proper treatment can causean incidence of late complications, particularly in staphylococcal chronic infections. Forthis reason, it is suggested that in addition to detecting bacteria, an enterotoxin B detectiontest should be performed to control its toxigenicity.

  3. Breadth versus volume: Neurology outpatient clinic cases in medical education.

    Science.gov (United States)

    Albert, Dara V; Blood, Angela D; Park, Yoon Soo; Brorson, James R; Lukas, Rimas V

    2016-06-01

    This study examined how volume in certain patient case types and breadth across patient case types in the outpatient clinic setting are related to Neurology Clerkship student performance. Case logs from the outpatient clinic experience of 486 students from The University of Chicago Pritzker School of Medicine, USA, participating in the 4week Neurology Clerkship from July 2008 to June 2013 were reviewed. A total of 12,381 patient encounters were logged and then classified into 13 diagnostic categories. How volume of cases within categories and the breadth of cases across categories relate to the National Board of Medical Examiners Clinical Subject Examination for Neurology and a Neurology Clerkship Objective Structured Clinical Examination was analyzed. Volume of cases was significantly correlated with the National Board of Medical Examiners Clinical Subject Examination for Neurology (r=.290, pNeurology (r=.231, p=.017), however was not significantly correlated with any component of the Objective Structured Clinical Examination. Volume of cases correlated with higher performance on measures of specialty knowledge and clinical skill. Fewer relationships emerged correlating breadth of cases and performance on the same measures. This study provides guidance to educators who must decide how much emphasis to place on volume versus breadth of cases in outpatient clinic learning experiences. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. Clinical characteristics and prognosis of acute myeloid leukemia associated with DNA-methylation regulatory gene mutations.

    Science.gov (United States)

    Ryotokuji, Takeshi; Yamaguchi, Hiroki; Ueki, Toshimitsu; Usuki, Kensuke; Kurosawa, Saiko; Kobayashi, Yutaka; Kawata, Eri; Tajika, Kenji; Gomi, Seiji; Kanda, Junya; Kobayashi, Anna; Omori, Ikuko; Marumo, Atsushi; Fujiwara, Yusuke; Yui, Shunsuke; Terada, Kazuki; Fukunaga, Keiko; Hirakawa, Tsuneaki; Arai, Kunihito; Kitano, Tomoaki; Kosaka, Fumiko; Tamai, Hayato; Nakayama, Kazutaka; Wakita, Satoshi; Fukuda, Takahiro; Inokuchi, Koiti

    2016-09-01

    In recent years, it has been reported that the frequency of DNA-methylation regulatory gene mutations - mutations of the genes that regulate gene expression through DNA methylation - is high in acute myeloid leukemia. The objective of the present study was to elucidate the clinical characteristics and prognosis of acute myeloid leukemia with associated DNA-methylation regulatory gene mutation. We studied 308 patients with acute myeloid leukemia. DNA-methylation regulatory gene mutations were observed in 135 of the 308 cases (43.8%). Acute myeloid leukemia associated with a DNA-methylation regulatory gene mutation was more frequent in older patients (Pgene mutation was an unfavorable prognostic factor for overall survival in the whole cohort (P=0.0018), in patients aged ≤70 years, in patients with intermediate cytogenetic risk, and in FLT3-ITD-negative patients (P=0.0409). Among the patients with DNA-methylation regulatory gene mutations, 26.7% were found to have two or more such mutations and prognosis worsened with increasing number of mutations. In multivariate analysis DNA-methylation regulatory gene mutation was an independent unfavorable prognostic factor for overall survival (P=0.0424). However, patients with a DNA-methylation regulatory gene mutation who underwent allogeneic stem cell transplantation in first remission had a significantly better prognosis than those who did not undergo such transplantation (P=0.0254). Our study establishes that DNA-methylation regulatory gene mutation is an important unfavorable prognostic factor in acute myeloid leukemia.

  5. [Numeric alterations in the dys gene and their association with clinical features].

    Science.gov (United States)

    Mampel, Alejandra; Echeverría, María Inés; Vargas, Ana Lía; Roque, María

    2011-01-01

    The Duchenne/Becker muscular dystrophy is a hereditary miopathy with a recessive sex-linked pattern. The related gene is called DYS and the coded protein plays a crucial role in the anchorage between the cytoskeleton and the cellular membrane in muscle cells. Different clinical manifestations are observed depending on the impact of the genetic alteration on the protein. The global register of mutations reveals an enhanced frequency for deletions/duplications of one or more exons affecting the DYS gene. In the present work, numeric alterations have been studied in the 79 exons of the DYS gene. The study has been performed on 59 individuals, including 31 independent cases and 28 cases with a familial link. The applied methodology was Multiplex Ligation Dependent Probe Amplification (MLPA). In the 31 independent cases clinical data were established: i.e. the clinical score, the Raven test percentiles, and the creatininphosphokinase (CPK) blood values. Our results reveal a 61.3% frequency of numeric alterations affecting the DYS gene in our population, provoking all of them a reading frame shift. The rate for de novo mutations was identified as 35.2%. Alterations involving a specific region of one exon were observed with high frequency, affecting a specific region. A significant association was found between numeric alterations and a low percentile for the Raven test. These data contribute to the local knowledge of genetic alterations and their phenotypic impact for the Duchenne/Becker disease.

  6. Heartworm disease in dogs: unusual clinical cases.

    Science.gov (United States)

    Venco, L; Kramer, L; Genchi, Claudio

    2005-10-24

    Two unusual cases of heartworm infection are described, including one of spontaneous rupture of cardiac chambers, most likely due to the progressive increase in pressure within the right ventricle caused by Dirofilaria immitis infection. Another case report describes persistent left cranial vena cava, which interfered with the surgical removal of heartworm via the left jugular vein.

  7. The clinical challenge of SIADH - Three cases

    NARCIS (Netherlands)

    N. van der Lubbe (Nils); C. Thompson (Chris); R. Zietse (Bob); E.J. Hoorn (Ewout)

    2009-01-01

    textabstractThe syndrome of inappropriate antidiuretic hormone secretion (SIADH) remains a challenging disorder to diagnose and treat. Three cases are presented to illustrate these challenges. The first two cases had drug-induced SIADH secondary to a selective serotonin reuptake inhibitor (for depre

  8. Clinical Characteristics of Cases with Spinal Muscular Atrophy

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    Mehmet Canpolat

    2016-04-01

    Full Text Available Introduction: The aim of this study is was to evaluate the clinical features of cases with diagnosis of spinal muscular atrophy (SMA. Materials and Methods: Thirty-eight pediatric patients were evaluated retrospectively. All patients were followed in the Pediatric Neurology Department of Erciyes University Faculty of Medicine. The diagnosis of patients had been confirmed by genetic analysis of homozygous deletions of survival motor neuron 1 gene. Detailed history, newborn symptoms, nutritional characteristics, initial complaints, physical examination, concomitant pathologies, genetic characteristics, and treatment modalities were investigated in all patients. Results: The study population consisted of 19 boys (50% and 19 girls (50%. The mean age of patients was 26.9±25.7 months (range: 3-96 months. The mean follow-up period was 12.2±13.3 months (range: 2-48 months. According to SMA classification, 22 patients (57.8% were type 1, 8 patients (21.1% were type 2, and 8 patients were (21.1% type 3. Neonatal respiratory distress, age at early diagnosis, nutritional problems, and recurrent lung diseases were detected as poor prognostic factors. Conclusions: SMA is a neuromuscular disease that requires multidisciplinary approach to medical care. There is a wide range of clinical severity. Identification of poor prognostic factors will help in terms of guiding close monitoring and timely treatments of children with SMA.

  9. Analysis of SRY Gene in 8 Cases of Sex Abnormality

    Institute of Scientific and Technical Information of China (English)

    王慧; 腾云; 田虹; 陈燕; 杨真荣; 唐艳平

    2004-01-01

    In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries.Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in.male sex determination, while a sequence of other genes may be taken into account in sexual development.

  10. A gene-based information gain method for detecting gene-gene interactions in case-control studies.

    Science.gov (United States)

    Li, Jin; Huang, Dongli; Guo, Maozu; Liu, Xiaoyan; Wang, Chunyu; Teng, Zhixia; Zhang, Ruijie; Jiang, Yongshuai; Lv, Hongchao; Wang, Limei

    2015-11-01

    Currently, most methods for detecting gene-gene interactions (GGIs) in genome-wide association studies are divided into SNP-based methods and gene-based methods. Generally, the gene-based methods can be more powerful than SNP-based methods. Some gene-based entropy methods can only capture the linear relationship between genes. We therefore proposed a nonparametric gene-based information gain method (GBIGM) that can capture both linear relationship and nonlinear correlation between genes. Through simulation with different odds ratio, sample size and prevalence rate, GBIGM was shown to be valid and more powerful than classic KCCU method and SNP-based entropy method. In the analysis of data from 17 genes on rheumatoid arthritis, GBIGM was more effective than the other two methods as it obtains fewer significant results, which was important for biological verification. Therefore, GBIGM is a suitable and powerful tool for detecting GGIs in case-control studies.

  11. [Proliferative diabetic retinopathy -- therapeutic approach (clinical case)].

    Science.gov (United States)

    Burcea, M; Muşat, Ovidiu; Mahdi, Labib; Gheorghe, Andreea; Spulbar, F; Gobej, I

    2014-01-01

    We present the case of a 54 year old pacient diagnosed with neglected insulin dependent diabetes and proliferative diabetic retinopathy. Surgery was recommended and we practiced posterior vitrectomy, endolaser and heavy silicone oil endotamponade. Post-operative evolution was favorable.

  12. Leiomyoma cellulare in postoperative material: clinical cases

    OpenAIRE

    2013-01-01

    Introduction: Leiomyoma in one of the most common benign endometrial cancers. Location of the myoma in the cervix and the area of the broad ligament of the uterus is rare. Leiomyoma cellulare (LC) occurs in about 5.0% of leiomyoma cases. Aim of the research: To determine the occurrence of LC among 294 cases of myomas as well as myomas and uterine endometriosis, found in postoperative examinations. Material and methods: Patients were qualified for the surgery based on a gynaecolog...

  13. The moral case for the clinical placebo.

    Science.gov (United States)

    Gold, Azgad; Lichtenberg, Pesach

    2014-04-01

    Placebos are arguably the most commonly prescribed drug, across cultures and throughout history. Nevertheless, today many would consider their use in the clinic unethical, since placebo treatment involves deception and the violation of patients' autonomy. We examine the placebo's definition and its clinical efficacy from a biopsychosocial perspective, and argue that the intentional use of the placebo and placebo effect, in certain circumstances and under several conditions, may be morally acceptable. We highlight the role of a virtue-based ethical orientation and its implications for the beneficent use of the placebo. In addition, the definitions of lying and deception are discussed, clarified and applied to the clinical placebo dilemma. Lastly, we suggest that concerns about patient autonomy, when invoked as a further argument against administering placebos, are extended beyond their reasonable and coherent application.

  14. Molecular analysis of Rv0679c and Rv0180c genes of Mycobacterium tuberculosis from clinical isolates of pulmonary tuberculosis

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    L Rupa

    2016-01-01

    Full Text Available Context: Two novel proteins/genes Rv0679c and Rv0180c of Mycobacterium tuberculosis (MTB H37Rv were classified as a hypothetical membrane and transmembrane proteins which might have a role in the invasion. Molecular analysis of these genes in human clinical isolates of pulmonary tuberculosis (PTB patients was not well characterised. Aims: To assess the molecular diversity of Rv0679c and Rv0180c genes of MTB from clinical isolates of PTB patients. Settings and Design: DNA from 97 clinical isolates was extracted and subjected to amplification using selective primers by polymerase chain reaction (PCR. The PCR product obtained was sequenced commercially. Patients and Methods: Clinical isolates obtained from tuberculosis patients were investigated for polymorphisms in the Rv0679c and Rv0180c genes by PCR and DNA sequencing. Genomic DNA isolated by cetyltrimethylammonium bromide method was used for amplification of genes. Results: Rv0679c gene was highly conserved in 61 out of 65 clinical isolates assessed for sequence homology with wild-type H37Rv gene and was identical using ClustalW. Fifty-five out of 78 (70.5% clinical isolates assessed for Rv0180c were positive for single nucleotide polymorphism (SNP at 258th position where the nucleotide G was replaced with T (G to T. In clinical isolates of untreated cases, the frequency was 54.5% for SNP at 258th position which is low compared to cases undergoing treatment where the frequency was 73.1%. Conclusions: Molecular analysis of Rv0180c in clinical isolates of PTB assessed in this study was the first report, where an SNP at 258th position G to T was identified within the gene. Rv0679c gene was highly conserved (94%, within Indian clinical isolates as compared to reports from other nations.

  15. [Clinical cases and historical-medical didactics].

    Science.gov (United States)

    Berti, Giuseppina Bock

    2004-01-01

    The discovery of remarkable documents dating back to the thirties and coming from the Policlinico Surgical Clinic of Milan, offers the possibility to be read in a historical clue too and to compare the constant discordances with the clinical contemporary practice. The aim is to point out the relationship between yesterday knowledges and critical today interpretations. The analysis can be suggested because certainly instructive and formative, also within the historical-medical didactics students of the courses of degree in Medicine and Nursing since the first match with the Medical Faculty.

  16. Congenital dislocation of the patella - clinical case

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    Pedro Miguel Sá

    2016-02-01

    Full Text Available ABSTRACT Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

  17. Osteonecrosis caused by Bisphosphonates: a clinical case

    Science.gov (United States)

    SPINELLI, D.; DE VICO, G.; BONINO, M.; BARLATTANI, A.; BOLLERO, P.; BARLATTANI, A.

    2010-01-01

    SUMMARY The osteonecrosis of the maxillares caused by bisphosphonates (OMB) either wrongly known or not reconised in earlier times became nowadays very important among the dentists and maxillo-facials surgeons because of the potential serious consequences that might bring in the oral cave of the patients, who are suffering already for their base condition. The goal of our work was to verify if a deep treatment and an attentive observation with a close follow-up can bring to the resolution of serious cases of ostenecrosis of the maxillares by bisphosphonantes. Although without a statistic value our case report put the basis for a chance to execute wider casistic studies. PMID:23285372

  18. The expression of HER-2/neu gene in colon cancer tissues and its clinical significance

    Institute of Scientific and Technical Information of China (English)

    Jing Jin; Yuxuan Che; Qimin Wang; Fang Liu; Man Li; Lifen Wang; Xiuhua Sun; Yang Zhang

    2013-01-01

    Objective:The article aims to detect the expression of HER-2/neu gene in colon cancer tissues and adjacent tissues, to analyze the relationship between dif erent pathologic types and clinical features, also to invest the distribution of patients with positive expression of HER-2 gene. Methods:The expression of HER-2 gene in the 223 samples with colon can-cer was detected by immunochemical approach. The expression of HER-2 gene in colon cancer tissues and adjacent tissues and dif erent pathologic types was analyzed byχ2 test. The correlation between the expression of HER-2 gene and clinical features was analyzed by Spearman. Results:The number of positive expression of HER-2 gene in colon cancer tissues and adjacent tissues were 74 and 0 respectively, the dif erence has statistical significance. The number of papil ary or tubular adenocarcinoma was 182, among them, 60 cases were positive expression. The number of mucinous adenocarcinoma was 41, among them, 14 cases were positive expression. The expression of HER-2/neu gene has no correlation with sex, age, the maximum diameter, general classification, degree of dif erentiation and depth of invasion, which has no statistical significance. However, the expression of HER-2/neu gene has correlation with metastasis of lymph node and Dukes stage, which has statistical significance. The expression of HER-2/neu gene was positive correlation with metastasis of lymph node and Dukes stage. The correlated coef icient index was 0.320 and 0.320 respectively. In the 74 patients with positive expression of HER-2 gene, 59.4%of them were 60-74 years old. And there was 97.3%of the patients without family history of adenocarcinoma. Conclusion:The expression of HER-2/neu gene in colon cancer tissues was higher than in adjacent tissues. The expression of HER-2/neu gene has no correlation with sex, age, the maximum diameter, general classification, degree of dif erentiation and depth of invasion, but has correlation with metastasis of

  19. LYME CARDITIS - CLINICAL CHARACTERISTICS OF 105 CASES

    NARCIS (Netherlands)

    VANDERLINDE, MR

    1991-01-01

    105 North American and European cases of Lyme carditis, being documented and in part published in the period 1977-1990, are reviewed and compared. The male: female ratio was 3:1, as well in Europe as in the USA. Transient atrioventricular block is the most frequent manifestation of Lyme carditis, wi

  20. Clinical and ethical implications of mitochondrial gene transfer.

    Science.gov (United States)

    Mitalipov, Shoukhrat; Wolf, Don P

    2014-01-01

    Inherited diseases caused by mitochondrial gene (mtDNA) mutations affect at least 1 in 5000-10,000 children and are associated with severe clinical symptoms. Novel reproductive techniques designed to replace mutated mtDNA in oocytes or early embryos have been proposed to prevent transmission of disease from parents to their children. Here we review the efficacy and safety of these approaches and their associated ethical and regulatory issues.

  1. Hypertrophic cardiomyopathy: from gene defect to clinical disease

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Major advances have been made over the last decade in our understanding of the molecular basis ofseveral cardiac conditions. Hypertrophic cardiomyopathy (HCM) was the first cardiac disorder in whicha genetic basis was identified and as such, has acted as a paradigm for the study of an inherited cardiacdisorder. HCM can result in clinical symptoms ranging from no symptoms to severe heart failure andpremature sudden death. HCM is the commonest cause of sudden death in those aged less than 35 years,including competitive athletes. At least ten genes have now been identified, defects in which cause HCM.All of these genes encode proteins which comprise the basic contractile unit of the heart, i.e. the sarcomere.While much is now known about which genes cause disease and the various clinical presentations, very littleis known about how these gene defects cause disease, and what factors modify the expression of the mutantgenes. Studies in both cell culture and animal models of HCM are now beginning to shed light on thesignalling pathways involved in HCM, and the role of both environmental and genetic modifying factors.Understanding these mechanisms will ultimately improve our knowledge of the basic biology of heart musclefunction, and will therefore provide new avenues for treating cardiovascular disease in man.

  2. Safety of gene therapy: new insights to a puzzling case.

    Science.gov (United States)

    Rothe, Michael; Schambach, Axel; Biasco, Luca

    2014-01-01

    Over the last few years, the transfer of therapeutic genes via gammaretro- or lentiviral vector systems has proven its virtue as an alternative treatment for a series of genetic disorders. The number of approved phase I/II clinical trials, especially for rare diseases, is steadily increasing, but the overall hurdles to become a broadly acceptable therapy remain numerous. The efforts by clinicians and basic scientists have tremendously improved the knowledge available about feasibility and biosafety of gene therapy. Nonetheless, despite the generation of a plethora of clinical and preclinical safety data, we still lack sufficiently powerful assays to predictively assess the exact levels of toxicity that might be observed in any given clinical gene therapy. Insertional mutagenesis is one of the major concerns when using integrating vectors for permanent cell modification, and the occurrence of adverse events related to genotoxicity, in early gene therapy trials, has refrained the field of gene therapy from emerging further. In this review, we provided a comprehensive overview on the basic principles and potential co-factors concurring in the generation of adverse events reported in gene therapy clinical trials using integrating vectors. Additionally, we summarized the available systems to assess genotoxicity at the preclinical level and we shed light on the issues affecting the predictive value of these assays when translating their results into the clinical arena. In the last section of the review we briefly touched on the future trends and how they could increase the safety of gene therapy employing integrating vector technology to take it to the next level.

  3. Profiling critical cancer gene mutations in clinical tumor samples.

    Directory of Open Access Journals (Sweden)

    Laura E MacConaill

    Full Text Available BACKGROUND: Detection of critical cancer gene mutations in clinical tumor specimens may predict patient outcomes and inform treatment options; however, high-throughput mutation profiling remains underdeveloped as a diagnostic approach. We report the implementation of a genotyping and validation algorithm that enables robust tumor mutation profiling in the clinical setting. METHODOLOGY: We developed and implemented an optimized mutation profiling platform ("OncoMap" to interrogate approximately 400 mutations in 33 known oncogenes and tumor suppressors, many of which are known to predict response or resistance to targeted therapies. The performance of OncoMap was analyzed using DNA derived from both frozen and FFPE clinical material in a diverse set of cancer types. A subsequent in-depth analysis was conducted on histologically and clinically annotated pediatric gliomas. The sensitivity and specificity of OncoMap were 93.8% and 100% in fresh frozen tissue; and 89.3% and 99.4% in FFPE-derived DNA. We detected known mutations at the expected frequencies in common cancers, as well as novel mutations in adult and pediatric cancers that are likely to predict heightened response or resistance to existing or developmental cancer therapies. OncoMap profiles also support a new molecular stratification of pediatric low-grade gliomas based on BRAF mutations that may have immediate clinical impact. CONCLUSIONS: Our results demonstrate the clinical feasibility of high-throughput mutation profiling to query a large panel of "actionable" cancer gene mutations. In the future, this type of approach may be incorporated into both cancer epidemiologic studies and clinical decision making to specify the use of many targeted anticancer agents.

  4. Clinical analysis of 22 cases with Hashimoto's encephalopathy

    Directory of Open Access Journals (Sweden)

    Xiao-yan GE

    2014-07-01

    Full Text Available Objective To investigate the clinical presentations of Hashimoto's encephalopathy (HE, so as to improve the diagnosis and treatment of this disease. Methods A retrospective analysis was performed on clinical features, laboratory findings, imaging profiles, treatment and outcomes of 22 patients with HE who were admitted to our hospital between June 2010 and September 2013.  Results Clinical symptoms were mainly acute or subacute cognitive impairment (9 cases, psychiatric symptoms (6 cases, seizures (5 cases, ataxia (5 cases, stroke-like episodes (6 cases, tremor (1 case, myoclonus (2 cases and disturbance of consciousness (3 cases. Marked increase was found in serum anti-thyroid peroxidase (anti-TPO antibody level (19 cases and anti-thyroglobulin (anti-TG antibody level (20 cases. Twenty-one cases were treated with glucocorticoids, and one patient was treated only with general neurotrophic therapy, such as ganglioside. Except for 4 cases showed bad response to steroids, the rest patients had an obvious improvement. Conclusions Hashimoto's encephalopathy is an encephalopathy with the presence of elevated antithyroid antibodies, and most patients showed good response to steroids. So early diagnosis and treatment is particularly important for improving prognosis. This disease should be considered as an important differential diagnosis for encephalopathy of unknown etiology, and screening for serum antithyroid antibodies should be performed as initial screening test. doi: 10.3969/j.issn.1672-6731.2014.07.008

  5. Integration of gene expression, clinical, and epidemiologic data to characterize Chronic Fatigue Syndrome

    Directory of Open Access Journals (Sweden)

    Vernon Suzanne D

    2003-12-01

    Full Text Available Abstract Background Chronic fatigue syndrome (CFS has no diagnostic clinical signs or diagnostic laboratory abnormalities and it is unclear if it represents a single illness. The CFS research case definition recommends stratifying subjects by co-morbid conditions, fatigue level and duration, or functional impairment. But to date, this analysis approach has not yielded any further insight into CFS pathogenesis. This study used the integration of peripheral blood gene expression results with epidemiologic and clinical data to determine whether CFS is a single or heterogeneous illness. Results CFS subjects were grouped by several clinical and epidemiological variables thought to be important in defining the illness. Statistical tests and cluster analysis were used to distinguish CFS subjects and identify differentially expressed genes. These genes were identified only when CFS subjects were grouped according to illness onset and the majority of genes were involved in pathways of purine and pyrimidine metabolism, glycolysis, oxidative phosphorylation, and glucose metabolism. Conclusion These results provide a physiologic basis that suggests CFS is a heterogeneous illness. The differentially expressed genes imply fundamental metabolic perturbations that will be further investigated and illustrates the power of microarray technology for furthering our understanding CFS.

  6. Knee osteoarthrosis secondary to ochronosis -clinical case,

    Directory of Open Access Journals (Sweden)

    Andreia Maria da Silva Martins Ferreira

    2014-12-01

    Full Text Available Alkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygenase causes an accumulation of homogentisic acid. Ochronosis consists of excessive deposition of homogentisic acid in the connective tissue and presents as a chestnut brown or black pigmentation. With aging, the accumulation of pigments from homogentisic acid in the joints causes osteoarthrosis. There is no specific treatment for the disease and the approach is symptomatic. Arthroplasty is the solution for severe cases of osteoarthrosis caused by this pathological condition and presents results comparable to those from patients with primary osteoarthrosis. Here, the case of a 67-year-old patient who underwent several arthroplasty procedures because of osteoarthrosis caused by this rare pathological condition is presented. The last surgical intervention consisted of total right knee arthroplasty.

  7. Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

    Directory of Open Access Journals (Sweden)

    Mehmet Gunduz

    2016-01-01

    Full Text Available Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. Ophthalmologic examination suggested septooptic dysplasia. Cranial magnetic resonance imaging (MRI showed nonspecific gliosis at subcortical and periventricular deep white matter. Case II was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes. Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A mutation in Case II in the PEX1 gene. Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD.

  8. Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China

    Indian Academy of Sciences (India)

    JING HE; SHUWU QI; HUIJUN ZHANG; JINGJING GUO; SHU CHEN; QI ZHANG; BAOSHENG ZHU

    2017-09-01

    Themutations of androgen receptor (AR) gene are the most common cause for complete androgen insensitivity syndrome (CAIS). We aimed to characterize the six cases enrolled in our hospital (the First People’s Hospital of Yunnan, China) and explore the molecular mechanism of CAIS. Between 2010 and 2013, six female cases were enrolled in our hospital for the agenesis of secondary sexual characteristics. The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing. The six cases with 46, XY karyotype were diagnosed with CAIS and four novel AR mutations were discovered, which were responsible forChinese CAIS. The molecular study of the AR gene facilitated the understanding of the mechanism of CAIS and provided the genetic counselling clinically.

  9. Facilitating case studies in massage therapy clinical education.

    Science.gov (United States)

    Baskwill, Amanda

    2013-01-01

    The integration of evidence into reflective health care practice has been on the rise in recent years and is a phenomenon that has affected all health care professions, including massage therapy. Clinical case studies are a research design that follows one patient or subject, making the studies ideal for use in clinical practice. They are valuable for communicating information from clinical practice to the broader community. Case studies have face validity that may be more valuable to individual practitioners than homogeneous randomized controlled trials, as the practitioner may recognize a complex patient in the case report. At Humber College, Student Massage Therapists (SMTs) create, conduct, and communicate results of a clinical case study prior to graduation. This article describes the process and experience.

  10. Clinical waste incinerators in Cameroon--a case study

    DEFF Research Database (Denmark)

    Mochungong, Peter Ikome Kuwoh; Gulis, Gabriel; Sodemann, Morten

    2012-01-01

    Incinerators are widely used to treat clinical waste in Cameroon's Northwest Region. These incinerators cause public apprehension owing to purported risks to operators, communities and the environment. This article aims to summarize findings from an April 2008 case study....

  11. [Paraffinomas: history, clinical features and treatment. A case report].

    Science.gov (United States)

    Mounios-Perchenet, A S; Le Fourn, B; Hepner-Lavergne, D; Pannier, M

    1997-02-01

    One case of paraffinoma is reported on a 60 years old man following injections of paraffin fourty years ago. The authors recalled with this observation history of paraffin, clinical aspect and surgical treatment of the paraffinoma.

  12. [Disseminated sporotrichosis - clinical case and discussion].

    Science.gov (United States)

    Barroso Pereira, João Cláudio; Grijó, Amorita; Ribeiro Machado Pereira, Rosângela; Noel S Oliveira, Andreza; de Andrade, Ana Cláudia; Ferreira, Ana Cláudia M; Corrêa Brant Machado, Christiane; Veiga Coutinho, Débora; Vale Rios, Danilo; Pereira Pires, Bárbara

    2008-01-01

    The authors report a case of a patient with a prior history of alcohol abuse who developed nodules and ulcerated skin lesions on his trunk and lower extremities along the line of the lymphatic draining area. The patient's X-ray showed reticular nodular intersticial infiltrates at the lung bases. There was a positive culture of supraclavicular lymph node for Sporothrix schenckii. After specific treatment using mainly potassium iodide, there was regression of cutaneous lesions and lung infiltrates. The authors present a discussion on the deseases' forms of presentation, highlighting the lung involvement ans further discuss the diagnosis and treatment of sporotrichosis.

  13. Dental Fusion: Report on a Clinical Case

    OpenAIRE

    Colorado Vélez, Carlos

    2014-01-01

    Fusion is defined as the partial or complete union of two or more teeth during their development; it can occur between normal teeth or between a normal tooth and a supernumerary tooth. This anomaly can be unilateral or bilateral and can affect any teeth, although deciduous teeth are more frequently damaged. It can also affect the patient’s appearance, cause changes in the dental arch space, lead to cavities and affect periodontal structures. This article presents the case of 13-year-old who c...

  14. [Liposarcoma in the submandibular region. Clinical case].

    Science.gov (United States)

    Fragati, G; Leone, G; Santuccio, A; Guzzo, M C; Minutolo, V; Cammisuli, F

    1994-10-01

    The authors report a case of liposarcoma in the sub-mandibular region, and they describe the histological species and the way of spreading. They suggest a surgical, non-demolitional therapy, that they carried radical if it is related to a strict follow-up. Anatomical and functional results, after demolishing surgical therapy, are sometimes unacceptable if the real benefits in terms of survival are considered. No supporting therapy has been used because of the presumed insensibility of the neoplasm to the chemo-radiotherapeutic treatments. At 2 years from surgical treatment no local relapses, on distance metastasis have been related.

  15. Clinical and biological characteristics of adult de novo and secondary acute myeloid leukemia with balanced 11q23 chromosomal anomaly or MLL gene rearrangement compared to cases with unbalanced 11q23 anomaly: confirmation of the existence of different entities with 11q23 breakpoint.

    Science.gov (United States)

    Archimbaud, E; Charrin, C; Magaud, J P; Campos, L; Thomas, X; Fière, D; Rimokh, R

    1998-01-01

    Although the presence of a chromosome 11q23 breakpoint is of recognized poor prognosis in acute lymphoblastic leukemia, its prognostic significance in acute myeloid leukemia (AML) has been the object of conflicting reports, perhaps reflecting the possibility of different entities. It has been found that only typical and generally balanced 11q23 chromosomal anomalies involve the MLL gene while atypical and generally unbalanced do not. To determine whether these two categories of AML patients had different initial characteristics and evolution, supporting different pathogenetic mechanisms, we analyzed clinical and biologic characteristics of newly diagnosed AML patients with balanced 11q23 breakpoint and/or MLL rearrangement seen over a 10-year period in our institution and compared them to cases with unbalanced 11q23 anomaly seen over the same period. These two categories of patients were compared with newly diagnosed patients with normal karyotype and no MLL rearrangement when tested, seen over the same period of time and treated similarly. Over this period, 442 newly diagnosed adult (> 15 years) AML seen in our institution had a successful karyotype performed before any therapy. Thirty-six cases (8%) had a chromosome 11q23 breakpoint including 19 cases with a balanced translocation or inversion and 17 cases with an unbalanced anomaly. Eighty-seven recently diagnosed cases of AML, for whom frozen cellular material was available, were analyzed by Southern blot for the presence of MLL gene rearrangement. Fourteen cases (16% of the tested cases) had a rearrangement of the MLL gene, including seven cases with an apparently successful karyotype not showing any 11q23 breakpoint and two cases with no available karyotype. The only case with unbalanced 11q23 chromosomal anomaly which was tested had no MLL rearrangement. There was a clear-cut clinical difference between the 28 patients having a balanced 11q23 anomaly/MLL rearrangement and the 17 patients having an unbalanced

  16. Clinical Competence: General Ability or Case-Specific?

    Science.gov (United States)

    Wimmers, Paul F.; Splinter, Ted A. W.; Hancock, Gregory R.; Schmidt, Henk G.

    2007-01-01

    Background: Before the 1970s, research into the development of clinical competence was mainly focused on general problem-solving abilities. The scope of research changed when Elstein and colleagues discovered that individual ability to solve clinical problems varies considerably across cases. It was concluded that problem solving abilities are…

  17. Cardial myxoma associated with clinical weakness and thorombocytopenia: case report

    Directory of Open Access Journals (Sweden)

    Mahmoud Hosseinzadeh Maleki

    2013-02-01

    Full Text Available Atrial myxomas is the most prevalent benign heart tumor which is presented with a wide variety of symptoms. We introduce a case who suffered left atrial myxoma associated with clinical weakness and thorombocytopenia. The clinical symptoms of the patient rapidly disappeared one week after cardial myxoma resection.

  18. Teaching clinical reasoning: case-based and coached.

    Science.gov (United States)

    Kassirer, Jerome P

    2010-07-01

    Optimal medical care is critically dependent on clinicians' skills to make the right diagnosis and to recommend the most appropriate therapy, and acquiring such reasoning skills is a key requirement at every level of medical education. Teaching clinical reasoning is grounded in several fundamental principles of educational theory. Adult learning theory posits that learning is best accomplished by repeated, deliberate exposure to real cases, that case examples should be selected for their reflection of multiple aspects of clinical reasoning, and that the participation of a coach augments the value of an educational experience. The theory proposes that memory of clinical medicine and clinical reasoning strategies is enhanced when errors in information, judgment, and reasoning are immediately pointed out and discussed. Rather than using cases artificially constructed from memory, real cases are greatly preferred because they often reflect the false leads, the polymorphisms of actual clinical material, and the misleading test results encountered in everyday practice. These concepts foster the teaching and learning of the diagnostic process, the complex trade-offs between the benefits and risks of diagnostic tests and treatments, and cognitive errors in clinical reasoning. The teaching of clinical reasoning need not and should not be delayed until students gain a full understanding of anatomy and pathophysiology. Concepts such as hypothesis generation, pattern recognition, context formulation, diagnostic test interpretation, differential diagnosis, and diagnostic verification provide both the language and the methods of clinical problem solving. Expertise is attainable even though the precise mechanisms of achieving it are not known.

  19. Clinical competence : General ability or case-specific?

    NARCIS (Netherlands)

    Wimmers, Paul F.; Splinter, Ted A. W.; Hancock, Gregory R.; Schmidt, Henk G.

    2007-01-01

    Background: Before the 1970s, research into the development of clinical competence was mainly focused on general problem-solving abilities. The scope of research changed when Elstein and colleagues discovered that individual ability to solve clinical problems varies considerably across cases. It was

  20. Clinical Analysis of 45 Cases of Caesarean Scar Pregnancy

    Institute of Scientific and Technical Information of China (English)

    Hong SHI; Ai-hua FANG; Qin-fang CHEN

    2008-01-01

    Objective To summarize the clinical characteristics of caesarean scar pregnancy and to investigate its treatment.Methods Clinical case records of 45 cases of caesarean scar pregnancy from June 2003 to September 2007 were reviewed.The characteristics and management of cases were analyzed.Results The women's average age was 32.8±5.1 years.All cases had amenorrhoea.and 27 cases had vaginal bleeding from spotting to morderate.Seven cases were misdiagnosed as normal early intrauterine pregnancy or inevitable miscarriage before dilation and curettage(D & C).In case of massive bleeding,caesarean scar pregnancy was diagnosed after D & C.Bleeding was controlled and uterus was conserved in 6 cases,and 1 case underwent hysterectomy because of uncontrollable bleeding.The remaining 38 cases had ultrasound scan,which indicated scar pregnancy before primary treatment.Eight cases were primarily treated with dilation and curettage,in which only 2 cases had slight bleeding in the operation and no further treatment.Nineteen cases were primarily treated with dilation and curettage after uterine artery embolization.in which 17 cases needed no further treatment and had no complications.The success rate was 89.4%(17/19).Eleven cases were primarity treated with trichosanthin 1.2 mg intramuscular.No one encountered massive bleeding,but 7 cases of these 11 cases needed extra treatment.Conclusion Caesarean scar pregnancy must be cautious of,especially in cases of inevitable miscarriage.Dilation and curettage followed uterine artery embolization can be used as the primary treatment for caesarean scar pregnancy.

  1. Methylbromide intoxication: a clinical case study.

    Science.gov (United States)

    Breeman, Wim

    2009-01-01

    The port of Rotterdam, The Netherlands, is the world's largest container port. In 2006, one of these containers caused a chemical incident. Methylbromide is used in some countries as a pesticide for the fumigation of maritime containers. Because of an insufficiently performed detoxification, this insecticide intoxicated several employees and some of the ambulance crew and Mobile Medical Team (MMT). The victims displayed symptoms of sore throat, irritated eyes, and hypersalivation. One of the victims suffered from multiple epileptic seizures. Two victims were admitted to the intensive care unit for respiratory support. Three other employees showed milder symptoms and received supportive care but were not admitted to the hospital. This complicated case shows that the safety of the ambulance crew and MMT must be guaranteed. It also demonstrates that healthcare providers cannot always oversee the accident scene and that there are some pitfalls that are almost impossible to prevent.

  2. Antiepleptic drug interactions: a clinical case demonstration.

    Science.gov (United States)

    Tesfaye, Hundie; Klapková, Eva; Tesfayeová, Alena; Komárek, Vladimír

    2011-01-01

    Epilepsy is a serious health disorder affecting both paediatric and adult population worldwide. Due to difficulties in identifying its aetiology, initial management is often guided by empiric therapy measures. Symptomatic control requires the use of antiepileptic drugs (AEDs), many of which have the potential for adverse drug interactions. Children are especially susceptible to drug interactions and frequently exhibit atypical adverse events, which may require special care. Aim. To demonstrate a case of a 15 year old girl suffering from refractory epilepsy with underlying focal cortical dysplasia (FCD), whose seizure deterioration was most probably associated with drug-drug interactions between prescribed common antiepileptic drugs, namely valproic acid, phenobarbital or the prodrug primidon and carbamazepine.

  3. Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

    Directory of Open Access Journals (Sweden)

    Albano Lilian M. J.

    2000-01-01

    Full Text Available The mucopolysaccharidoses (MPS are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler -- MPS I (1 case; Hunter -- MPS II (2 cases; Sanfilippo -- MPS III (2 cases; Morquio -- MPS IV (4 cases; Maroteaux-Lamy -- MPS VI (9 cases; and Sly -- MPS VII (1 case. DISCUSSION: The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.

  4. BRCA Share: A Collection of Clinical BRCA Gene Variants.

    Science.gov (United States)

    Béroud, Christophe; Letovsky, Stanley I; Braastad, Corey D; Caputo, Sandrine M; Beaudoux, Olivia; Bignon, Yves Jean; Bressac-De Paillerets, Brigitte; Bronner, Myriam; Buell, Crystal M; Collod-Béroud, Gwenaëlle; Coulet, Florence; Derive, Nicolas; Divincenzo, Christina; Elzinga, Christopher D; Garrec, Céline; Houdayer, Claude; Karbassi, Izabela; Lizard, Sarab; Love, Angela; Muller, Danièle; Nagan, Narasimhan; Nery, Camille R; Rai, Ghadi; Revillion, Françoise; Salgado, David; Sévenet, Nicolas; Sinilnikova, Olga; Sobol, Hagay; Stoppa-Lyonnet, Dominique; Toulas, Christine; Trautman, Edwin; Vaur, Dominique; Vilquin, Paul; Weymouth, Katelyn S; Willis, Alecia; Eisenberg, Marcia; Strom, Charles M

    2016-12-01

    As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical observations of BRCA variants is a critical resource in that process. This article describes BRCA Share™, a database created by a unique international alliance of academic centers and commercial testing laboratories. By integrating the content of the Universal Mutation Database generated by the French Unicancer Genetic Group with the testing results of two large commercial laboratories, Quest Diagnostics and Laboratory Corporation of America (LabCorp), BRCA Share™ has assembled one of the largest publicly accessible collections of BRCA variants currently available. Although access is available to academic researchers without charge, commercial participants in the project are required to pay a support fee and contribute their data. The fees fund the ongoing curation effort, as well as planned experiments to functionally characterize variants of uncertain significance. BRCA Share™ databases can therefore be considered as models of successful data sharing between private companies and the academic world.

  5. Asteroid hyalosis: clinical review of 58 cases

    Directory of Open Access Journals (Sweden)

    José Nuno Vargas Galveia

    2013-10-01

    Full Text Available OBJECTIVE: Understand the behavior, functional repercussion and relationship with epidemiological factors of asteroid hyalosis (AH and retrospective observational case series. METHODS: Fifty-eight patients diagnosed with AH (24 women and 34 men were studied. All patients were submitted to a thorough ophthalmological examination. RESULTS: We observed a statistical association between the presence of AH and male sex (p=0,042. An increase in prevalence of this pathology was observed with increasing age. We determined an odds ration of 5,24 of a patient over 50 years old having AH, when compared to patients bellow this threshold. Eighty-six percent of patients had unilateral vitreous deposits. We measured a lower IOP in the affected eye, with the difference being in average 2,68 ± 1,45 mmHg (p=0,037. We observed no statistical association between AH and age related macular degeneration, diabetes or glaucoma. Five eyes were submitted to facoemulsification combined with pars plana vitrectomy with an average gain of 7 lines (Snellen in visual acuity (p=0,03. CONCLUSION: In our sample a clear association between AH, ageing and male sex was observed. The majority of patients had unilateral vitreous deposits. Vitrectomy in association with facoemulsification is a safe and effective intervention in this group of patients.

  6. Occurrence of the mcr-1 Colistin Resistance Gene and other Clinically Relevant Antibiotic Resistance Genes in Microbial Populations at Different Municipal Wastewater Treatment Plants in Germany.

    Science.gov (United States)

    Hembach, Norman; Schmid, Ferdinand; Alexander, Johannes; Hiller, Christian; Rogall, Eike T; Schwartz, Thomas

    2017-01-01

    Seven wastewater treatment plants (WWTPs) with different population equivalents and catchment areas were screened for the prevalence of the colistin resistance gene mcr-1 mediating resistance against last resort antibiotic polymyxin E. The abundance of the plasmid-associated mcr-1 gene in total microbial populations during water treatment processes was quantitatively analyzed by qPCR analyses. The presence of the colistin resistance gene was documented for all of the influent wastewater samples of the seven WWTPs. In some cases the mcr-1 resistance gene was also detected in effluent samples of the WWTPs after conventional treatment reaching the aquatic environment. In addition to the occurrence of mcr-1 gene, CTX-M-32, blaTEM, CTX-M, tetM, CMY-2, and ermB genes coding for clinically relevant antibiotic resistances were quantified in higher abundances in all WWTPs effluents. In parallel, the abundances of Acinetobacter baumannii, Klebsiella pneumoniae, and Escherichia coli were quantified via qPCR using specific taxonomic gene markers which were detected in all influent and effluent wastewaters in significant densities. Hence, opportunistic pathogens and clinically relevant antibiotic resistance genes in wastewaters of the analyzed WWTPs bear a risk of dissemination to the aquatic environment. Since many of the antibiotic resistance gene are associated with mobile genetic elements horizontal gene transfer during wastewater treatment can't be excluded.

  7. Occurrence of the mcr-1 Colistin Resistance Gene and other Clinically Relevant Antibiotic Resistance Genes in Microbial Populations at Different Municipal Wastewater Treatment Plants in Germany

    Science.gov (United States)

    Hembach, Norman; Schmid, Ferdinand; Alexander, Johannes; Hiller, Christian; Rogall, Eike T.; Schwartz, Thomas

    2017-01-01

    Seven wastewater treatment plants (WWTPs) with different population equivalents and catchment areas were screened for the prevalence of the colistin resistance gene mcr-1 mediating resistance against last resort antibiotic polymyxin E. The abundance of the plasmid-associated mcr-1 gene in total microbial populations during water treatment processes was quantitatively analyzed by qPCR analyses. The presence of the colistin resistance gene was documented for all of the influent wastewater samples of the seven WWTPs. In some cases the mcr-1 resistance gene was also detected in effluent samples of the WWTPs after conventional treatment reaching the aquatic environment. In addition to the occurrence of mcr-1 gene, CTX-M-32, blaTEM, CTX-M, tetM, CMY-2, and ermB genes coding for clinically relevant antibiotic resistances were quantified in higher abundances in all WWTPs effluents. In parallel, the abundances of Acinetobacter baumannii, Klebsiella pneumoniae, and Escherichia coli were quantified via qPCR using specific taxonomic gene markers which were detected in all influent and effluent wastewaters in significant densities. Hence, opportunistic pathogens and clinically relevant antibiotic resistance genes in wastewaters of the analyzed WWTPs bear a risk of dissemination to the aquatic environment. Since many of the antibiotic resistance gene are associated with mobile genetic elements horizontal gene transfer during wastewater treatment can't be excluded. PMID:28744270

  8. Occurrence of the mcr-1 Colistin Resistance Gene and other Clinically Relevant Antibiotic Resistance Genes in Microbial Populations at Different Municipal Wastewater Treatment Plants in Germany

    Directory of Open Access Journals (Sweden)

    Norman Hembach

    2017-07-01

    Full Text Available Seven wastewater treatment plants (WWTPs with different population equivalents and catchment areas were screened for the prevalence of the colistin resistance gene mcr-1 mediating resistance against last resort antibiotic polymyxin E. The abundance of the plasmid-associated mcr-1 gene in total microbial populations during water treatment processes was quantitatively analyzed by qPCR analyses. The presence of the colistin resistance gene was documented for all of the influent wastewater samples of the seven WWTPs. In some cases the mcr-1 resistance gene was also detected in effluent samples of the WWTPs after conventional treatment reaching the aquatic environment. In addition to the occurrence of mcr-1 gene, CTX-M-32, blaTEM, CTX-M, tetM, CMY-2, and ermB genes coding for clinically relevant antibiotic resistances were quantified in higher abundances in all WWTPs effluents. In parallel, the abundances of Acinetobacter baumannii, Klebsiella pneumoniae, and Escherichia coli were quantified via qPCR using specific taxonomic gene markers which were detected in all influent and effluent wastewaters in significant densities. Hence, opportunistic pathogens and clinically relevant antibiotic resistance genes in wastewaters of the analyzed WWTPs bear a risk of dissemination to the aquatic environment. Since many of the antibiotic resistance gene are associated with mobile genetic elements horizontal gene transfer during wastewater treatment can't be excluded.

  9. Clinical analysis of 9 cases of anti-NMDAR encephalitis

    Directory of Open Access Journals (Sweden)

    Yun-xia CHEN

    2016-10-01

    Full Text Available Objective  To explore the pathogenesis and clinical features of anti-N-methyl-D-aspartate receptor (NMDAR encephalitis. Methods  The clinical characteristics of 9 patients with anti-NMDAR encephalitis in Department of Neurology, Army General Hospital of Chinese PLA from October 2013 to October 2015, were retrospectively analyzed. And by literatures review, the pathogenesis, clinical feature, diagnosis, treatments and prognosis of this disease were summarized. Results  The average age of the 9 patients (3 men and 6 women was 39 years, 5 of them had precursor nonspecific infection. The initial symptom of neurologic system was mental-behavior disorder in all the 6 females, or epilepsy in all the 3 males. Mental-behavior disorder existed in all the 9 cases during the disease course, including 7 cases of epilepsy, 8 cases of consciousness disturbance, 5 cases of involuntary movement, and 3 cases of inadequate ventilation. The anti-NMDAR antibodies were positively detected from the cerebrospinal fluid and blood of all the 9 cases. After gamma globulin and hormone therapy, 8 cases were cured or better, and only 1 case invalid. A six months follow-up found that 8 cases were independent with eusemia and 1 case got disability. Conclusions  The clinical characteristics of anti-NMDAR encephalitis are mental-behavior disorder, or epilepsy upon the basis of a precursor infection, with positive anti-NMDAR antibodies detected from the cerebrospinal fluid and blood. Gamma globulin and hormone therapy may help th e clinical recovery. DOI: 10.11855/j.issn.0577-7402.2016.09.13

  10. Pulmonary Arteriovenous Fistula: Clinical and Histologic Spectrum of Four Cases

    Directory of Open Access Journals (Sweden)

    Soomin Ahn

    2016-09-01

    Full Text Available Pulmonary arteriovenous fistula (PAVF is abnormally dilated vessels that provide a right-to-left shunt between pulmonary artery and pulmonary vein and is clinically divided into simple and complex type. Here, we report four cases of surgically resected sporadic PAVFs presenting various clinical and histologic spectrums. Cases 1 (a 57-old-female and 2 (a 54-old-female presented as incidentally identified single aneurysmal fistulas and the lesions were surgically removed without complication. On the other hand, case 3 (an 11-old-male showed diffuse dilated vascular sacs involving both lungs and caused severe hemodynamic and pulmonary dysfunction. Embolization and surgical resection of the main lesion failed to relieve the symptoms. Case 4 (a 36-old-male had a localized multiloculated cyst clinically mimicking congenital cystic adenomatoid malformation. Microscopically, the lesion consisted of dilated thick vessels, consistent with the diagnosis of fistulous arteriovenous malformation/hemangioma.

  11. Comparing the Effectiveness of a Clinical Registry and a Clinical Data Warehouse for Supporting Clinical Trial Recruitment: A Case Study

    Science.gov (United States)

    Weng, Chunhua; Bigger, J Thomas; Busacca, Linda; Wilcox, Adam; Getaneh, Asqual

    2010-01-01

    This paper reports a case study comparing the relative efficiency of using a Diabetes Registry or a Clinical Data Warehouse to recruit participants for a diabetes clinical trial, TECOS. The Clinical Data Warehouse generated higher positive predictive accuracy (31% vs. 6.6%) and higher participant recruitment than the Registry (30 vs. 14 participants) in a shorter time period (59 vs. 74 working days). We identify important factors that increase clinical trial recruitment efficiency and lower cost. PMID:21347102

  12. Comparing the effectiveness of a clinical registry and a clinical data warehouse for supporting clinical trial recruitment: a case study.

    Science.gov (United States)

    Weng, Chunhua; Bigger, J Thomas; Busacca, Linda; Wilcox, Adam; Getaneh, Asqual

    2010-11-13

    This paper reports a case study comparing the relative efficiency of using a Diabetes Registry or a Clinical Data Warehouse to recruit participants for a diabetes clinical trial, TECOS. The Clinical Data Warehouse generated higher positive predictive accuracy (31% vs. 6.6%) and higher participant recruitment than the Registry (30 vs. 14 participants) in a shorter time period (59 vs. 74 working days). We identify important factors that increase clinical trial recruitment efficiency and lower cost.

  13. Pulmonary mycoses among the clinically suspected cases of pulmonary tuberculosis

    Directory of Open Access Journals (Sweden)

    Tshering Ongmu Bhutia

    2015-01-01

    Full Text Available Background: This study was carried with the main objectives: (1 to find out the occurrence of pulmonary mycoses in clinically suspected pulmonary tuberculosis cases at central referral hospital, Tadong, Sikkim. (2 To find out the various fungi causing pulmonary mycoses in clinically suspected pulmonary tuberculosis cases. Methods: 200 clinically suspected pulmonary tuberculosis cases who visited the department of microbiology for the diagnostic microscopic examination of sputum sample for acid fast bacilli were included in this cross sectional study, carried out under the department of microbiology, Sikkim Manipal institute of medical sciences, over one year. Smears of sputum samples were examined microscopically for acid fast bacilli and fungal elements. Sputum samples were also plated onto different fungal culture media. Results: Out of 200 patients, various types of pathogens were detected in 54 (27% patients. Fourteen (7% patients were positive only for AFB, while fungus as a primary etiological agent was detected in 16(8% patients. Fungus as a secondary etiological agent was detected in 4 (2% patients [AFB with fungus in 2 (1%, AFB with fungus and bacteria in 1 (0.5% and bacteria with fungus in 1 (0.5% patient]. Conclusion: Pulmonary mycosis can be a primary infection in non- tuberculosis cases or co-infection in pulmonary tuberculosis cases. Investigation for fungal cause in clinically suspected cases of pulmonary tuberculosis will prevent misdiagnosis and mistreatment of cases. [Int J Res Med Sci 2015; 3(1.000: 260-268

  14. Candidate egg case silk genes for the spider Argiope argentata from differential gene expression analyses.

    Science.gov (United States)

    Chaw, R C; Arensburger, P; Clarke, T H; Ayoub, N A; Hayashi, C Y

    2016-12-01

    Orb-web weaving spiders produce a variety of task-specific silks from specialized silk glands. The genetics underlying the synthesis of specific silk types are largely unknown, and transcriptome analysis could be a powerful approach for identifying candidate genes. However, de novo assembly and expression profiling of silk glands with RNA-sequencing (RNAseq) are problematic because the few known gene transcripts for silk proteins are extremely long and highly repetitive. To identify candidate genes for tubuliform (egg case) silk synthesis by the orb-weaver Argiope argentata (Araneidae), we estimated transcript abundance using two sequencing methods: RNAseq reads from throughout the length of mRNA molecules, and 3' digital gene expression reads from the 3' region of mRNA molecules. Both analyses identified similar sets of genes as differentially expressed when comparing tubuliform and nonsilk gland tissue. However, incompletely assembled silk gene transcripts were identified as differentially expressed because of RNAseq read alignments to highly repetitive regions, confounding interpretation of RNAseq results. Homologues of egg case silk protein (ECP) genes were upregulated in tubuliform glands. This discovery is the first description of ECP homologues in an araneid. We also propose additional candidate genes involved in synthesis of tubuliform or other silk types. © 2016 The Authors. Insect Molecular Biology published by John Wiley & Sons Ltd on behalf of Royal Entomological Society.

  15. Clinical study of DMD gene point mutation causing Becker muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Ji-qing CAO

    2015-07-01

    Full Text Available Background  DMD gene point mutation, mainly nonsense mutation, always cause the most severe Duchenne muscular dystrophy (DMD. However, we also observed some cases of Becker muscular dystrophy (BMD carrying DMD point mutation. This paper aims to explore the mechanism of DMD point mutation causing BMD, in order to enhance the understanding of mutation types of BMD.  Methods  Sequence analysis was performed in 11 cases of BMD confirmed by typical clinical manifestations and muscle biopsy. The exon of DMD gene was detected non-deletion or duplication by multiplex ligation-dependent probe amplification (MLPA.  Results  Eleven patients carried 10 mutation types without mutational hotspot. Six patients carried nonsense mutations [c.5002G>T, p.(Glu1668X; c.1615C > T, p.(Arg539X; c.7105G > T, p.(Glu2369X; c.5287C > T, p.(Arg1763X; c.9284T > G, p.(Leu3095X]. One patient carried missense mutation [c.5234G > A, p.(Arg1745His]. Two patients carried frameshift mutations (c.10231dupT, c.10491delC. Two patients carried splicing site mutations (c.4518 + 3A > T, c.649 + 2T > C.  Conclusions  DMD gene point mutation may result in BMD with mild clinical symptoms. When clinical manifestations suggest the possibility of BMD and MLPA reveals non?deletion or duplication mutation of DMD gene, BMD should be considered. Study on the mechanism of DMD point mutation causing BMD is very important for gene therapy of DMD. DOI: 10.3969/j.issn.1672-6731.2015.06.005

  16. Clinical Omics Analysis of Colorectal Cancer Incorporating Copy Number Aberrations and Gene Expression Data

    Directory of Open Access Journals (Sweden)

    Tsuyoshi Yoshida

    2010-07-01

    Full Text Available Background: Colorectal cancer (CRC is one of the most frequently occurring cancers in Japan, and thus a wide range of methods have been deployed to study the molecular mechanisms of CRC. In this study, we performed a comprehensive analysis of CRC, incorporating copy number aberration (CRC and gene expression data. For the last four years, we have been collecting data from CRC cases and organizing the information as an “omics” study by integrating many kinds of analysis into a single comprehensive investigation. In our previous studies, we had experienced difficulty in finding genes related to CRC, as we observed higher noise levels in the expression data than in the data for other cancers. Because chromosomal aberrations are often observed in CRC, here, we have performed a combination of CNA analysis and expression analysis in order to identify some new genes responsible for CRC. This study was performed as part of the Clinical Omics Database Project at Tokyo Medical and Dental University. The purpose of this study was to investigate the mechanism of genetic instability in CRC by this combination of expression analysis and CNA, and to establish a new method for the diagnosis and treatment of CRC. Materials and methods: Comprehensive gene expression analysis was performed on 79 CRC cases using an Affymetrix Gene Chip, and comprehensive CNA analysis was performed using an Affymetrix DNA Sty array. To avoid the contamination of cancer tissue with normal cells, laser micro-dissection was performed before DNA/RNA extraction. Data analysis was performed using original software written in the R language. Result: We observed a high percentage of CNA in colorectal cancer, including copy number gains at 7, 8q, 13 and 20q, and copy number losses at 8p, 17p and 18. Gene expression analysis provided many candidates for CRC-related genes, but their association with CRC did not reach the level of statistical significance. The combination of CNA and gene

  17. Generation of an algorithm based on minimal gene sets to clinically subtype triple negative breast cancer patients.

    Science.gov (United States)

    Ring, Brian Z; Hout, David R; Morris, Stephan W; Lawrence, Kasey; Schweitzer, Brock L; Bailey, Daniel B; Lehmann, Brian D; Pietenpol, Jennifer A; Seitz, Robert S

    2016-02-23

    Recently, a gene expression algorithm, TNBCtype, was developed that can divide triple-negative breast cancer (TNBC) into molecularly-defined subtypes. The algorithm has potential to provide predictive value for TNBC subtype-specific response to various treatments. TNBCtype used in a retrospective analysis of neoadjuvant clinical trial data of TNBC patients demonstrated that TNBC subtype and pathological complete response to neoadjuvant chemotherapy were significantly associated. Herein we describe an expression algorithm reduced to 101 genes with the power to subtype TNBC tumors similar to the original 2188-gene expression algorithm and predict patient outcomes. The new classification model was built using the same expression data sets used for the original TNBCtype algorithm. Gene set enrichment followed by shrunken centroid analysis were used for feature reduction, then elastic-net regularized linear modeling was used to identify genes for a centroid model classifying all subtypes, comprised of 101 genes. The predictive capability of both this new "lean" algorithm and the original 2188-gene model were applied to an independent clinical trial cohort of 139 TNBC patients treated initially with neoadjuvant doxorubicin/cyclophosphamide and then randomized to receive either paclitaxel or ixabepilone to determine association of pathologic complete response within the subtypes. The new 101-gene expression model reproduced the classification provided by the 2188-gene algorithm and was highly concordant in the same set of seven TNBC cohorts used to generate the TNBCtype algorithm (87%), as well as in the independent clinical trial cohort (88%), when cases with significant correlations to multiple subtypes were excluded. Clinical responses to both neoadjuvant treatment arms, found BL2 to be significantly associated with poor response (Odds Ratio (OR) =0.12, p=0.03 for the 2188-gene model; OR = 0.23, p sets can recapitulate the TNBC subtypes identified by the original 2188

  18. Clinical analysis of cases of neonatal Streptococcus agalactiae sepsis.

    Science.gov (United States)

    Zeng, S J; Tang, X S; Zhao, W L; Qiu, H X; Wang, H; Feng, Z C

    2016-06-17

    With the advent of antibiotic resistance, pathogenic bacteria have become a major threat in cases of neonatal sepsis; however, guidelines for treatment have not yet been standardized. In this study, 15 cases of neonatal Streptococcus agalactiae sepsis from our hospital were retrospectively analyzed. Of these, nine cases showed early-onset and six cases showed late-onset sepsis. Pathogens were characterized by genotyping and antibiotic sensitivity tests on blood cultures. Results demonstrated that in cases with early-onset sepsis, clinical manifestations affected mainly the respiratory tract, while late-onset sepsis was accompanied by intracranial infection. Therefore, we suggest including a cerebrospinal fluid examination when diagnosing neonatal sepsis. Bacterial genotyping indicated the bacteria were mainly type Ib, Ia, and III S. agalactiae. We recommend treatment with penicillin or ampicillin, since bacteria were resistant to clindamycin and tetracycline. In conclusion, our results provide valuable information for the clinical treatment of S. agalactiae sepsis in neonatal infants.

  19. Diversity of Meq gene from clinical Marek’s disease virus infection in Saudi Arabia

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    Mahmoud H. A. Mohamed

    2016-06-01

    Full Text Available Aim: The aim of this study was to demonstrate the genomic features of Meq gene of Marek’s disease virus (MDV recently circulating in Saudi Arabia (SA. Materials and Methods: Two poultry flocks suffering from mortalities and visceral tumors were presented to the Veterinary Teaching Hospital, King Faisal University, SA. Subjected to different diagnostic procedures: Case history, clinical signs, and necropsy as well as polymerase chain reaction followed by Meq gene sequence analysis. Results: Case history, clinical signs, and necropsy were suggestive of MDV infection. The Meq gene was successfully detected in liver and spleen of infected chickens. A 1062 bp band including the native Meq ORF in addition to a 939 bp of S-Meq (short isoform of Meq were amplified from Saudi 01-13 and Saudi 02-13, respectively. The nucleotide and deduced amino acids sequences of the amplified Meq genes of both Saudi isolates showed distinct polymorphism when compared with the standard USA virulent isolates Md5 and GA. The sequence analysis of the S-Meq gene showed a 123 bp deletion representing 41 amino acids between two proline-rich areas without any frameshift. The Meq gene encoded four repeats of proline-rich repeats (PRRs sequences, whereas the S-Meq contains only two PRRs. Interestingly, the phylogenetic analysis revealed that both of SA MDV isolates are closely related to the MDV strains from Poland. Conclusion: The two MDV isolates contain several nucleotide polymorphisms resulting in distinct amino acid substitutions. It is suggested that migratory and wild birds, as well as world trading of poultry and its by-products, have a great contribution in the transmission of MDVs overseas.

  20. Diversity of Meq gene from clinical Marek’s disease virus infection in Saudi Arabia

    Science.gov (United States)

    Mohamed, Mahmoud H. A.; El-Sabagh, Ibrahim M.; Al-Habeeb, Malik A.; Al-Hammady, Yousef M.

    2016-01-01

    Aim: The aim of this study was to demonstrate the genomic features of Meq gene of Marek’s disease virus (MDV) recently circulating in Saudi Arabia (SA). Materials and Methods: Two poultry flocks suffering from mortalities and visceral tumors were presented to the Veterinary Teaching Hospital, King Faisal University, SA. Subjected to different diagnostic procedures: Case history, clinical signs, and necropsy as well as polymerase chain reaction followed by Meq gene sequence analysis. Results: Case history, clinical signs, and necropsy were suggestive of MDV infection. The Meq gene was successfully detected in liver and spleen of infected chickens. A 1062 bp band including the native Meq ORF in addition to a 939 bp of S-Meq (short isoform of Meq) were amplified from Saudi 01-13 and Saudi 02-13, respectively. The nucleotide and deduced amino acids sequences of the amplified Meq genes of both Saudi isolates showed distinct polymorphism when compared with the standard USA virulent isolates Md5 and GA. The sequence analysis of the S-Meq gene showed a 123 bp deletion representing 41 amino acids between two proline-rich areas without any frameshift. The Meq gene encoded four repeats of proline-rich repeats (PRRs sequences), whereas the S-Meq contains only two PRRs. Interestingly, the phylogenetic analysis revealed that both of SA MDV isolates are closely related to the MDV strains from Poland. Conclusion: The two MDV isolates contain several nucleotide polymorphisms resulting in distinct amino acid substitutions. It is suggested that migratory and wild birds, as well as world trading of poultry and its by-products, have a great contribution in the transmission of MDVs overseas. PMID:27397979

  1. Three sporadic cases of Creutzfeldt-Jakob disease in China and their clinical analysis.

    Science.gov (United States)

    Wang, Xingbang; Li, Na; Liu, Aifen; Ma, Lin; Shan, Peiyan; Jiang, Wenjing; Zhang, Qun

    2017-09-01

    The present study described the characteristics of three cases of Creutzfeldt-Jakob disease (CJD) in China and analyzed their clinical presentations. The clinical information of the three cases was collected and analyzed. Blood and cerebrospinal fluid (CSF) specimens of the patients were collected for detection of the prion protein (PRNP) gene and 14-3-3 protein levels. Dynamic changes of electroencephalograms (EEGs) and brain magnetic resonance images (MRIs) were also observed. All the three cases were sporadic CJD cases. They presented with symptoms including hyposthenia, progressive memory loss, truncal and limb ataxia, dysarthria, lowered vision acuity, bucking, language disorders, myoclonia and akinetic mutism state. One of the three cases was associated with a prolonged duration of >6 years. The EEG of two cases showed slow biphasic waves. The diffusion-weighted MRI sequence revealed abnormal hyperintensity and bilateral ribboning in the cortex. Two patients tested positive for the 14-3-3 protein in the CSF. All patients were of methionine homozygosity at codon 129 in the gene encoding PRNP protein and one patient had a mutation. The CJD cases showed differences in terms of symptoms and disease duration. Subacute onset was common and with attentive nursing and supportive treatments, one of the patients had a prolonged survival time of >6 years.

  2. The Clinical Significance of Unknown Sequence Variants in BRCA Genes

    Energy Technology Data Exchange (ETDEWEB)

    Calò, Valentina; Bruno, Loredana; Paglia, Laura La; Perez, Marco; Margarese, Naomi [Department of Surgery and Oncology, Regional Reference Center for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors, University of Palermo, Via del Vespro 127, 90127 Palermo (Italy); Gaudio, Francesca Di [Department of Medical Biotechnologies and Legal Medicine, University of Palermo, Palermo (Italy); Russo, Antonio, E-mail: lab-oncobiologia@usa.net [Department of Surgery and Oncology, Regional Reference Center for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors, University of Palermo, Via del Vespro 127, 90127 Palermo (Italy)

    2010-09-10

    Germline mutations in BRCA1/2 genes are responsible for a large proportion of hereditary breast and/or ovarian cancers. Many highly penetrant predisposition alleles have been identified and include frameshift or nonsense mutations that lead to the translation of a truncated protein. Other alleles contain missense mutations, which result in amino acid substitution and intronic variants with splicing effect. The discovery of variants of uncertain/unclassified significance (VUS) is a result that can complicate rather than improve the risk assessment process. VUSs are mainly missense mutations, but also include a number of intronic variants and in-frame deletions and insertions. Over 2,000 unique BRCA1 and BRCA2 missense variants have been identified, located throughout the whole gene (Breast Cancer Information Core Database (BIC database)). Up to 10–20% of the BRCA tests report the identification of a variant of uncertain significance. There are many methods to discriminate deleterious/high-risk from neutral/low-risk unclassified variants (i.e., analysis of the cosegregation in families of the VUS, measure of the influence of the VUSs on the wild-type protein activity, comparison of sequence conservation across multiple species), but only an integrated analysis of these methods can contribute to a real interpretation of the functional and clinical role of the discussed variants. The aim of our manuscript is to review the studies on BRCA VUS in order to clarify their clinical relevance.

  3. A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.

    Science.gov (United States)

    Di Rocco, Maja; Caruso, Ubaldo; Briem, Egill; Rossi, Andrea; Allegri, Anna E M; Buzzi, Davide; Tiranti, Valeria

    2006-12-01

    A child is reported presenting with a clinical picture suggestive of genetic connective tissue disorders (vascular fragility, articular hyperlaxity, delayed motor development, and normal cognitive development), an absence of pathological ethylmalonic acid excretion during inter-critical phases and a homozygous R163W mutation in the ETHE1 gene. This case suggests that ethylmalonic aciduria is not a constant biochemical marker of ethylmalonic encephalopathy and that its normal excretion outside of metabolic decompensation episodes does not exclude this metabolic disease.

  4. Meralgia paresthetica: clinical and electrophysiological diagnosis in 120 cases.

    Science.gov (United States)

    Seror, P; Seror, R

    2006-05-01

    We report the results of clinical and electrophysiological examinations in 131 cases of meralgia paresthetica (MP) among 120 unselected patients, 69 men and 51 women, aged 15-81 years. All patients experienced permanent or intermittent pain, and all but one had permanent sensory impairment of the thigh. The lateral aspect of the thigh was solely involved in 88 cases and the anterior aspect was also or exclusively involved in 32 cases. The right thigh was involved 62 times and the left 58 times. Symptom duration varied from 2 weeks to 20 years. The initial diagnosis was meralgia paresthetica in 47 cases (39%), root disease in 35 cases, and osteoarthritis in 6 cases; no diagnosis was proposed in the 32 remaining cases. Two cases had undergone previous spine surgery for disk herniation, with no benefit. A precise cause could explain the lateral femoral cutaneous nerve (LFCN) lesion in 46 cases, the other 74 cases being considered idiopathic (25% of patients were obese). Only one case required surgery to relieve symptoms. LFCN conduction was studied orthodromically, distally from the anterior superior iliac spine. The side-to-side amplitude ratio (ssRatio) was greater than 2.3 in 118 of 120 patients (98.3%) and was a better index to confirm a lesion of the LFCN than SNAP amplitude, which was abnormal (less than 3 microV) in 88 cases (73.3%). Only two of the 11 bilateral cases had an ssRatio lower than 2.3 (they were both 2.0). An ssRatio of 2.3 or more and a SNAP amplitude lower than 3 microV provided a specificity of 98.75% or more. The mean axonal loss was 88%. These clinical and electrophysiological data highlight the central role the neurophysiologist should play in diagnosing MP by means of an LFCN conduction study.

  5. Prediction of Metastasis and Recurrence in Colorectal Cancer Based on Gene Expression Analysis: Ready for the Clinic?

    Energy Technology Data Exchange (ETDEWEB)

    Shibayama, Masaki [Sysmex Corporation, Central Research Laboratories, Kobe 651-2271 (Japan); Maak, Matthias; Nitsche, Ulrich [Chirurgische Klinik, Klinikum Rechts der Isar der TUM, München 81657 (Germany); Gotoh, Kengo [Sysmex Corporation, Central Research Laboratories, Kobe 651-2271 (Japan); Rosenberg, Robert; Janssen, Klaus-Peter, E-mail: klaus-peter.janssen@lrz.tum.de [Chirurgische Klinik, Klinikum Rechts der Isar der TUM, München 81657 (Germany)

    2011-07-07

    Cancers of the colon and rectum, which rank among the most frequent human tumors, are currently treated by surgical resection in locally restricted tumor stages. However, disease recurrence and formation of local and distant metastasis frequently occur even in cases with successful curative resection of the primary tumor (R0). Recent technological advances in molecular diagnostic analysis have led to a wealth of knowledge about the changes in gene transcription in all stages of colorectal tumors. Differential gene expression, or transcriptome analysis, has been proposed by many groups to predict disease recurrence, clinical outcome, and also response to therapy, in addition to the well-established clinico-pathological factors. However, the clinical usability of gene expression profiling as a reliable and robust prognostic tool that allows evidence-based clinical decisions is currently under debate. In this review, we will discuss the most recent data on the prognostic significance and potential clinical application of genome wide expression analysis in colorectal cancer.

  6. Association between MYO9B rs962917 and rs1545620 gene polymorphism and clinical characteristic of inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    黄健

    2014-01-01

    Objective To investigate the association between MYO9B rs962917 and rs1545620 gene polymorphism and clinical pathological characteristics of patients with inflammatory bowel disease(IBD)and permeability of intestinal mucosa.Methods From September 2010 to May2012,a total of 196 cases of patients with IBD were collected,

  7. [Clinical analysis of 410 cases of drug eruption].

    Science.gov (United States)

    Mo, Bao-han

    2003-02-01

    An clinical analysis was conducted among a cohort of 410 patients drug eruption with treated in our department from January 1995 to December 2001. We found that the common drugs likely to lead to anaphylactic reactions included cephalosporins, ampicillin types, antipyretic analgesic types, rabies vaccine, sulfonamides, tetracyclines types, etc. The drug eruption mostly presents diverse clinical features resembling the rashes as seen in cases of scarlet fever, measles, urtica, or mucosal edema or ulceration.

  8. [Cases of clinical and subclinical mastitis due to "D" streptococci].

    Science.gov (United States)

    Aleksieva, V; Todorov, D

    1981-01-01

    Cytologic and bacteriologic investigations were carried out with a total of 364 samples of cow milk and secretion from 11 farms taken from individual quarters of the udder that have reacted positively and strongly positively with the rapid mastitis test Bernburg. It was found that in 330 of the cases there were data of clinical and subclinical mastitis of varying etiology. In 43 of the cases the causative agent (as isolated in pure cultures) proved to be "D" streptococci, giving positive reaction as judged by Schermann's criteria--from 9 cases of clinical and 34 cases of subclinical mastitis. The cell count varied from 360 000 to more than 5 million per cub. cm. Detailed studies were carried out on the cultural and biochemical properties of 31 strains of "D" streptococci, 17 strains belonging to Str. faecalis var. zymogenes, 9 strains--to Str. faecalis var. faecalis, and 5 strains--to Str. faecalis var. liquefaciens.

  9. Clinical and pathological analysis of 20 cases of hemochromatosis

    Directory of Open Access Journals (Sweden)

    Li LIANG

    2011-01-01

    Full Text Available Objective To investigate the clinical and pathological characteristics of hemochromatosis(HC,and provide references for HC diagnosis and treatment.Methods Liver specimens were obtained via needle biopsy from 20 cases of HC.Histological specimens were stained with haematoxylin eosin.Pathological changes of liver tissues were analyzed together with the clinical data.Results Ten cases of hereditary hemochromatosis(HHC and 10 cases of secondary hemochromatosis(SHC were randomly selected.Fatigue(18/20,hepatomegalia(18/20 and splenomegalia(17/20were the common clinical manifestations.The 20 HC cases characterized by iron overload and fibrosis may be divided into HHC type(17 cases and non-HHC type(3 cases according to the region of iron deposition.All the 10 cases of HHC showed HHC type,while 7 of the 10 SHC cases showed HHC type,and the other 3 SHC cases showed non-HHC type.Steatosis,eosinophile granulocyte infiltration and vacuolus nucleus were also observed frequently in the liver tissues of HC,and their distribution coincided with the region of iron deposition.Statistically,fibrosis was significantly associated with iron deposition and serum iron in HHC patients(P < 0.05,but not associated with steatosis and duration of HHC.Additionally,fibrosis was not associated with iron deposition,serum iron,steatosis and duration of SHC in SHC patients.Conclusions The final diagnosis of HC depends mainly on histological changes in liver tissues.Meanwhile,it is necessary to distinguish HHC from SHC according to case history and biochemical detection.HHC might be a metabolic disease with multi-organ damage due to the disruption of homeostasis by iron overload.To avoid multi-organ failure,patients with HHC should be diagnosed and treated as early as possible.

  10. Schizencephaly: clinical and imaging features in 30 infantile cases.

    Science.gov (United States)

    Denis, D; Chateil, J F; Brun, M; Brissaud, O; Lacombe, D; Fontan, D; Flurin, V; Pedespan, J

    2000-12-01

    Schizencephaly is an uncommon structural disorder of cerebral cortical development, characterized by congenital clefts spanning the cerebral hemispheres from the pial surface to the lateral ventricles and lined by cortical gray matter. Either an antenatal environmental incident or a genetic origin could be responsible for this lesion which occurs between the third and fourth month of gestation. We report the clinical and cranial imaging features of 30 children, of whom 15 had unilateral and 15 had bilateral lesions. Their ages at the time of the first presentation ranged from 1 month to 10 years. They were thoroughly studied from clinical, epileptical, imaging and electroencephalographic (EEG) viewpoints. Five patients were investigated by cranial computed tomography (CT), eight by cranial magnetic resonance (MR) imaging, and 17 by both methods. The clinical features consisted of mild hemiparesis in 17 cases (57%), 12/17 were related to a unilateral phenotype (80% of all unilateral forms) and 5/17 to a bilateral phenotype. A tetraparesis was present in nine cases, all of which were due to a bilateral cleft. Bilateral forms were significantly associated with tetraparesis, whereas unilateral forms were associated with hemiparesis. Mental retardation was observed in 17 cases (57%), and was observed significantly more often in bilateral clefts (80%). When both hemispheres are involved, an absence of reorganization of the brain function between the two hemispheres leads to severe mental deficits, in addition to the cerebral anomaly itself. Eleven patients had seizures (seven from unilateral and three from bilateral forms). The degree of malformation was not related to the severity of epilepsy. Migration disorders, such as dysplasia or heterotopia, were observed in 30% of cases and are also important etiopathogenetic factors. The septum pellucidum was absent in 13 cases (43%), with septo-optical dysplasia in two cases. Corpus callosum dysgenesis was noted in 30% of cases

  11. Clinical phenotype and genetic mutation of fatty acid hydroxylase - associated neurodegeneration: analysis of four cases

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    Xiao-jun HUANG

    2017-07-01

    Full Text Available Objective To report 4 cases of fatty acid hydroxylase - associated neurodegeneration (FAHN and to summarize the clinical and genetic characteristics of FAHN by literatures review.  Methods Four cases of FAHN patients' clinical and family data were collected in detail. The gDNA of patients and their parents were extracted from peripheral blood. FA2H gene was conducted and followed by Sanger sequencing.  Results Among the 4 cases, 3 cases (Case 2, Case 3, Case 4 presented typical manifestations of FAHN while the other (Case 1 was atypical. Genetic sequencing showed FA2H gene mutation in all affected patients. Compound heterozygous mutation c.461G > A (p.Arg154His and c.794T > G (p.Phe265Cys were seen in Case 1. In Case 2, only one documented heterozygous mutation c.703C > T (p.Arg235Cys was found, and dificit mutation was not found in single nucleotide polymorphism (SNP chip test of the patient and her mother. Compound heterozygous mutation c.688G > A (p.Glu230Lys and insertion mutation c.172_173insGGGCCAGGAC (p.Ile58ArgfsX47 were presented in Case 3. In Case 4, compound heterozygous mutation c.688G > A (p.Glu230Lys, c.968C > A (p.Pro323Gln and c.976G > A (p. Gly326Asp were seen, while his father was the carrier of c.688G > A (p.Glu230Lys mutation and his mother was the carrier of c.968C > A (p.Pro323Gln and c.976G > A (p.Gly326Asp mutation. According to the standard of American College of Medical Genetics and Genomics (ACMG, c.461G > A (p.Arg154His and c.794T > G (p.Phe265Cys in Case 1, and c.703C > T (p.Arg235Cys in Case 2 were considered as "likely pathogenic", while FA2H gene compound heterozygous mutation c.688G > A (p.Glu230Lys, insertion mutation c.172_173insGGGCCAGGAC (p.Ile58ArgfsX47 in Case 3 was as "pathogenic", and in Case 4, the FA2H gene mutation c.688G > A (p.Glu230Lys and c.968C > A (p.Pro323Gln were "pathogenic" and c.976G > A (p.Gly326Asp was "likely pathogenic".  Conclusions FAHN has highly clinical and genetic

  12. MRI for clinically suspected pediatric appendicitis: case interpretation

    Energy Technology Data Exchange (ETDEWEB)

    Moore, Michael M.; Brian, James M.; Methratta, Sosamma T.; Hulse, Michael A.; Choudhary, Arabinda K.; Eggli, Kathleen D.; Boal, Danielle K.B. [Penn State Milton S. Hershey Medical Center, Division of Pediatric Radiology, Department of Radiology, Hershey, PA (United States)

    2014-05-15

    As utilization of MRI for clinically suspected pediatric appendicitis becomes more common, there will be increased focus on case interpretation. The purpose of this pictorial essay is to share our institution's case interpretation experience. MRI findings of appendicitis include appendicoliths, tip appendicitis, intraluminal fluid-debris level, pitfalls of size measurements, and complications including abscesses. The normal appendix and inguinal appendix are also discussed. (orig.)

  13. PRNP and SPRN genes polymorphism in atypical bovine spongiform encephalopathy cases diagnosed in Polish cattle.

    Science.gov (United States)

    Gurgul, Artur; Polak, Mirosław Paweł; Larska, Magdalena; Słota, Ewa

    2012-08-01

    Polymorphisms in the coding region of the prion protein gene (PRNP) have been associated with the susceptibility and incubation period of prion diseases in humans and sheep. However, polymorphisms in this part of the bovine PRNP gene do not affect the classical bovine spongiform encephalopathy (BSE) susceptibility in cattle. Studies carried out in Germany have shown that insertion/deletion-type polymorphisms located in the promoter region of the bovine prion gene are possible genetic factors modulating BSE susceptibility by changing the level of PRNP expression. No such association was observed for atypical BSE cases; however, due to the rare nature of the disease, these results should be confirmed. Additionally, a single nonsynonymous mutation in PRNP codon 211 (E211K) was described in one H-type BSE case in the USA; however, it was not found in any other cases. Here, we performed genetic characterization of PRNP promoter indel variations and determined the polymorphism of open reading frames (ORFs) of PRNP and bovine prion-like Shadoo (SPRN) genes in six Polish atypical BSE cases and compared these results to the population of clinically healthy Polish Holstein cattle. No potentially pathogenic mutations were found in the PRNP ORF in atypical BSE-affected cattle, but our study showed a high frequency of deletions at the indel loci of PRNP promoter in these animals. Additionally, a rare sequence variation in the SPRN protein-coding sequence was found in one L-type atypical BSE-affected animal.

  14. Pseudobulbar Paralysis Treated by Acupuncture - Clinical Observation in 36 Cases

    Institute of Scientific and Technical Information of China (English)

    杜琳

    2001-01-01

    @@Pseudobulbar paralysis is a kind of common clinical syndromes of cerebral vascular diseases, which is manifested as dyslalia, dysphagia and choking. By several-year clinical observations, 36 cases were treated with satisfactory therapeutic effects as reported in the following. Clinical Data Of 36 in-patients, there were 24 males and 12 females, aged from 44 to 81 years, averaging 64.92 years. Of 36 cases, 24 were at the acute stage and 12 at the recovery stage. All the cases were diagnosed as cerebral vascular diseases by cranial CT scan and MRI, of which, 4 were cerebral infarction, 26 lacunar cerebral infarction, 5 cerebral hemorrhage and 1 mixed type. Of 36 cases, 15 were the first attack of wind-stroke, 15 the second attack, 5 the third attack and 1 the forth attack. There were 26 patients with hypertension among 36 cases, of which, 8 patients suffered from hypertension within 10 years, 6 for more than 10 years, 9 for more than 20 years and 3 for more than 30 years. All the 36 cases were associated with dysphagia and agreeable to Standard on Diagnosis and Evaluation of Therapeutic Effects of Wind-stroke issued by the State Scientific Committee 85-919-01-01, 1995.

  15. Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations

    Directory of Open Access Journals (Sweden)

    Hunmin Kim

    2011-11-01

    Full Text Available Primary hypokalemic periodic paralysis (HOKPP is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes (CACNA1S p.Arg528His and SCN4A p.Arg672His. Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of SCN4A mutations and CACNA1S mutations. We identified p.Arg672His in the SCN4A gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment.

  16. Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases

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    Albano Lilian M. J.

    2001-01-01

    Full Text Available INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a early age of onset (< 20 or 25 years, b autosomal recessive inheritance, c progressive ataxia of limbs and gait, and d absence of lower limb tendon reflexes. METHODS: We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test. RESULTS: Abnormalities in cerebellar signs, in electrocardiography, and pes cavus occurred more frequently in typical cases; however, plantar response and speech were more frequently normal in this group when the both typical and atypical cases were compared. Homozygous GAA expansion repeats were detected in 17 cases (68% - all typical cases. In 8 patients (32% (6 atypical and 2 typical, no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions. DISCUSSION: Molecular analysis was imperative for the diagnosis of Friedreich's ataxia, not only for typical cases but also for atypical ones. There was no genotype-phenotype correlation. Diagnosis based only on clinical findings is limited; however, it aids in better screening for suspected cases that should be tested. Evaluation for vitamin E deficiency is recommended, especially in cases without GAA expansion.

  17. Clinical utility of recombinant adenoviral human p53 gene therapy: current perspectives

    Directory of Open Access Journals (Sweden)

    Chen GX

    2014-10-01

    Full Text Available Guang-xia Chen,1,* Shu Zhang,2–4,* Xiao-hua He,1 Shi-yu Liu,1 Chao Ma,2–4 Xiao-Ping Zou2–4 1Department of Gastroenterology, First People’s Hospital of Xuzhou, Xuzhou, Jiangsu Province, People’s Republic of China; 2Department of Gastroenterology, Drum Tower Hospital, 3Medical School of Nanjing University, 4Jiangsu Clinical Medical Center of Digestive Disease, Nanjing, People’s Republic of China *These authors have contributed equally to the paperAbstract: Gene therapy has promised to be a highly effective antitumor treatment by introducing a tumor suppressor gene or the abrogation of an oncogene. Among the potential therapeutic transgenes, the tumor suppressor gene p53 serves as an attractive target. Restoration of wild-type p53 function in tumors can be achieved by introduction of an intact complementary deoxyribonucleic acid copy of the p53 gene using a suitable viral vector, in most cases an adenoviral vector (Adp53. Preclinical in vitro and in vivo studies have shown that Adp53 triggers a dramatic tumor regression response in various cancers. These viruses are engineered to lack certain early proteins and are thus replication defective, including Gendicine, SCH-58500, and Advexin. Several types of tumor-specific p53-expressing conditionally replicating adenovirus vectors (known as replication-competent CRAdp53 vectors have been developed, such as ONYX 015, AdDelta24-p53, SG600-p53, OBP-702, and H101. Various clinical trials have been conducted to investigate the safety and efficiency of these adenoviral vectors. In this review we will talk about the biological mechanisms, clinical utility, and therapeutic potentials of the replication-deficient Adp53-based and replication-competent CRAdp53-based gene therapy.Keywords: adenovirus, Adp53, CRAdp53

  18. Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.

    Science.gov (United States)

    Ripoll-Vera, Tomás; Gámez, José María; Govea, Nancy; Gómez, Yolanda; Núñez, Juana; Socías, Lorenzo; Escandell, Ángela; Rosell, Jorge

    2016-02-01

    Mutations in the troponin T gene (TTNT2) have been associated in small studies with the development of hypertrophic cardiomyopathy characterized by a high risk of sudden death and mild hypertrophy. We describe the clinical course of patients carrying mutations in this gene. We analyzed the clinical characteristics and prognosis of patients with mutations in the TNNT2 gene who were seen in an inherited cardiac disease unit. Of 180 families with genetically studied cardiomyopathies, 21 families (11.7%) were identified as having mutations in TNNT2: 10 families had Arg92Gln, 5 had Arg286His, 3 had Arg278Cys, 1 had Arg92Trp, 1 had Arg94His, and 1 had Ile221Thr. Thirty-three additional genetic carriers were identified through family assessment. The study included 54 genetic carriers: 56% were male, and the mean average age was 41 ± 17 years. There were 33 cases of hypertrophic cardiomyopathy, 9 of dilated cardiomyopathy, and 1 of noncompaction cardiomyopathy, and maximal myocardial thickness was 18.5 ± 6mm. Ventricular dysfunction was present in 30% of individuals and a history of sudden death in 62%. During follow-up, 4 patients died and 14 (33%) received a defibrillator (8 probands, 6 relatives). Mean survival was 54 years. Carriers of Arg92Gln had early disease development, high penetrance, a high risk of sudden death, a high rate of defibrillator implantation, and a high frequency of mixed phenotype. Mutations in the TNNT2 gene were more common in this series than in previous studies. The clinical and prognostic profiles depended on the mutation present. Carriers of the Arg92Gln mutation developed hypertrophic or dilated cardiomyopathy and had a significantly worse prognosis than those with other mutations in TNNT2 or other sarcomeric genes. Copyright © 2015 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  19. Clinical and molecular cytogenetics and gene mapping: principles and techniques.

    Science.gov (United States)

    Francke, U

    1995-01-01

    This article reviews the history of human cytogenetics with respect to technical advances from chromosome banding to molecular cytogenetics. Technologies such as in situ hybridization, chromosome painting, comparative genomic hybridization and interphase cytogenetics and their applications are discussed. The assignments of genes to chromosome regions by somatic cell genetics is illustrated by molecular analyses of somatic cell hybrid panels. The generation of complete physical maps of human chromosomes, by radiation hybrid mapping of sequence-tagged sites and establishment of chromosome-specific yeast artificial chromosome (YAC) banks and clone overlaps (contigs), is exemplified by studies of chromosome 18. The last section outlines the recent and future advances in clinical cytogenetics made possible by progress in molecular genetics.

  20. 混合谱系白血病基因重排阳性急性髓系白血病的临床特点与预后分析%Clinical characteristics and prognostic analyze of acute myeloid leukemia cases with MLL gene rearrangement

    Institute of Scientific and Technical Information of China (English)

    季国; 王祥民; 石培民; 岑建农; 孙爱宁

    2013-01-01

    目的:探讨混合谱系白血病(MLL)基因重排阳性急性髓系白血病(AML)患者的临床特点、预后,并与同期MLL基因重排阴性AML患者进行比较。方法观察随访51例MLL基因重排阳性AML病例(非M3型),分析临床特征、细胞形态学、免疫表型、细胞遗传学、早期死亡(early death,ED)、CR率、复发率、总体生存率(overall survival,OS)、移植效果等,并与同期随机选择的51例MLL基因重排阴性AML病例(非M3型)进行比较。结果(1)与对照组患者相比,MLL基因重排阳性患者WBC数、LDH、外周血原始细胞比例明显增高(P<0.05),FAB分型中M4/M5比例明显增高(P<0.05)。(2) MLL基因重排阳性 AML组单核系统的表面标志 CD14、CD64、CD15和 CD11b的表达明显高于对照组(P<0.05)。(3)MLL 基因重排阳性 AML 患者总缓解率51.0%,复发率42.3%。而对照组总缓解率72.5%,复发率18.9%。MLL基因重排阳性AML患者较对照组患者缓解率低,易复发(P<0.05);至随访截止时MLL基因重排阳性AML患者OS为32.3%,明显低于对照组(P<0.05);MLL基因重排阳性AML患者中,单纯化疗患者3年 OS率为26.7%,移植患者3年 OS率为60.0%,可见异基因外周血造血干细胞移植明显提高了OS率(P<0.05)。结论 MLL基因重排阳性AML在AML-M4/M5中发生率高,化疗效果差,易复发,预后差,异基因外周血造血干细胞移植可显著改善其生存率。%Objective To investigate the clinical characteristics and prognosis of acute myoloid leukimia cases with MLL gene rearrangement. Methods 51 de novo MLL gene rearrangement AML(non M3)cases were retrospectively reviewed. The clinical features, cytomorphology, immunophenotype, cytogenetics, early death, complete remission rate, recurrence rate, overall survival and response to allo-HSCT of these patients were compared with 51 cases without MLL gene

  1. Fahr’s Disease – about a clinical case

    Directory of Open Access Journals (Sweden)

    Joana Alexandre

    2014-10-01

    Full Text Available Fahr’s disease is a rare neuropsychiatric disorder with calcification of the basal nucleus. Its symptoms include movement disorders, dementia and affective disorders. The diagnosis is made with brain image particulary CAT or MRI. The authors describe a clinical case of Fahr’s disease, which presented initially with affective symptoms.

  2. Retrospective Clinical Analysis of 38 Cases of Pulmonary Embolism

    Institute of Scientific and Technical Information of China (English)

    Ruiyun Liang; Wei Zhang; Wei Wu; Shanping Jiang; Zhiqiang Lü

    2007-01-01

    To investigate the clinical feature of acute pulmonary embolism.Methods Retrospective clinical analysis was performed according to the data of 38 cases of pulmonary embolism.Results There were ground diseases and predisposing factors in 36 cases of pulmonary embolism among 38 cases,the ratio was 94.7 %,among the total predisposing factors,tumor,cardiovascular disease,venous thrombosis of lower extremity,smoking and long-term bed were common.There was no specificity in clinical feature,physical sign and rout chest X ray,electrocardiography,and their appearances were diversified.There were specificity and sensitivity in echocardiogram (UCG) and D-dimer to some extent.But,the final diagnosis must depend on some special examinations,such as selective pulmonary arteriography,CTPA,MRA and so on.Conclusions The special examinations must be done to make a definite diagnosis to confirm pulmonary embolism when the high risk factors and ground diseases are existing.It is necessary to some cases when the clinical feature can not be explained by other diseases.

  3. Clinical Case Studies in Psychoanalytic and Psychodynamic Treatment

    Science.gov (United States)

    Willemsen, Jochem; Della Rosa, Elena; Kegerreis, Sue

    2017-01-01

    This manuscript provides a review of the clinical case study within the field of psychoanalytic and psychodynamic treatment. The method has been contested for methodological reasons and because it would contribute to theoretical pluralism in the field. We summarize how the case study method is being applied in different schools of psychoanalysis, and we clarify the unique strengths of this method and areas for improvement. Finally, based on the literature and on our own experience with case study research, we come to formulate nine guidelines for future case study authors: (1) basic information to include, (2) clarification of the motivation to select a particular patient, (3) information about informed consent and disguise, (4) patient background and context of referral or self-referral, (5) patient's narrative, therapist's observations and interpretations, (6) interpretative heuristics, (7) reflexivity and counter-transference, (8) leaving room for interpretation, and (9) answering the research question, and comparison with other cases. PMID:28210235

  4. Clinical placement and case study methodology: a complex affair.

    Science.gov (United States)

    Donnelly, Frank; Wiechula, Rick

    2012-11-01

    Clinical placement is a valuable component of nursing education, helping students to authenticate, integrate and develop a range of nursing skills and knowledge. The diversity of nursing curricula throughout the world and the many models of clinical placement make this a difficult subject to research using typical qualitative and quantitative research methodologies. The potential for case study methodology to address the complexity of learning in the clinical environment is significant. This paper argues that Complexity Theory provides an interpretive paradigm that articulates well with case study methodology. This paper also provides an example of the development of a theoretical proposition based on pattern matching. Pattern matching is an approach to data analysis that encourages a consideration of predicted patterns with those that are empirically based. Copyright © 2012 Elsevier Ltd. All rights reserved.

  5. Trichomycosis (trichobacteriosis): clinical and microbiological experience with 56 cases.

    Science.gov (United States)

    Bonifaz, Alexandro; Váquez-González, Denisse; Fierro, Leonel; Araiza, Javier; Ponce, Rosa María

    2013-01-01

    Trichomycosis is asymptomatic bacterial infection of the axillary hairs caused by Corynebacterium sp. to bring a series of cases of trichomycosis, its clinical and microbiological experience. This report consists in a linear and observational retrospective study of 15 years of cases of trichomycosis confirmed clinically and microbiologically. Fifty six confirmed cases of trichomycosis were included in this report. The majority were men 53/56 (94.6%), mean age was 32.5 years. The most commonly affected area was the axilla (92%), trichomycosis flava was the principal variant 55/56 (98.2%) and signs and symptoms associated were hyperhidrosis (87.5%), hairs' texture change (57.1%) and odor (35.7%). Bacterial concretions were observed in all cases, and the predominant causative agent in 89.3% of all cases was Corynebacterium sp. Thirty patients were included in therapeutic portion of the study, and 28 (93.3%) of them experienced a clinical and microbiological cure. Trichomycosis is asymptomatic, superficial infection, which primarily affects axillary hairs.

  6. Informed conditioning on clinical covariates increases power in case-control association studies.

    Science.gov (United States)

    Zaitlen, Noah; Lindström, Sara; Pasaniuc, Bogdan; Cornelis, Marilyn; Genovese, Giulio; Pollack, Samuela; Barton, Anne; Bickeböller, Heike; Bowden, Donald W; Eyre, Steve; Freedman, Barry I; Friedman, David J; Field, John K; Groop, Leif; Haugen, Aage; Heinrich, Joachim; Henderson, Brian E; Hicks, Pamela J; Hocking, Lynne J; Kolonel, Laurence N; Landi, Maria Teresa; Langefeld, Carl D; Le Marchand, Loic; Meister, Michael; Morgan, Ann W; Raji, Olaide Y; Risch, Angela; Rosenberger, Albert; Scherf, David; Steer, Sophia; Walshaw, Martin; Waters, Kevin M; Wilson, Anthony G; Wordsworth, Paul; Zienolddiny, Shanbeh; Tchetgen, Eric Tchetgen; Haiman, Christopher; Hunter, David J; Plenge, Robert M; Worthington, Jane; Christiani, David C; Schaumberg, Debra A; Chasman, Daniel I; Altshuler, David; Voight, Benjamin; Kraft, Peter; Patterson, Nick; Price, Alkes L

    2012-01-01

    Genetic case-control association studies often include data on clinical covariates, such as body mass index (BMI), smoking status, or age, that may modify the underlying genetic risk of case or control samples. For example, in type 2 diabetes, odds ratios for established variants estimated from low-BMI cases are larger than those estimated from high-BMI cases. An unanswered question is how to use this information to maximize statistical power in case-control studies that ascertain individuals on the basis of phenotype (case-control ascertainment) or phenotype and clinical covariates (case-control-covariate ascertainment). While current approaches improve power in studies with random ascertainment, they often lose power under case-control ascertainment and fail to capture available power increases under case-control-covariate ascertainment. We show that an informed conditioning approach, based on the liability threshold model with parameters informed by external epidemiological information, fully accounts for disease prevalence and non-random ascertainment of phenotype as well as covariates and provides a substantial increase in power while maintaining a properly controlled false-positive rate. Our method outperforms standard case-control association tests with or without covariates, tests of gene x covariate interaction, and previously proposed tests for dealing with covariates in ascertained data, with especially large improvements in the case of case-control-covariate ascertainment. We investigate empirical case-control studies of type 2 diabetes, prostate cancer, lung cancer, breast cancer, rheumatoid arthritis, age-related macular degeneration, and end-stage kidney disease over a total of 89,726 samples. In these datasets, informed conditioning outperforms logistic regression for 115 of the 157 known associated variants investigated (P-value = 1 × 10(-9)). The improvement varied across diseases with a 16% median increase in χ(2) test statistics and a

  7. 75 FR 54351 - Cell and Gene Therapy Clinical Trials in Pediatric Populations; Public Workshop

    Science.gov (United States)

    2010-09-07

    ... HUMAN SERVICES Food and Drug Administration Cell and Gene Therapy Clinical Trials in Pediatric... public workshop entitled ``Cell and Gene Therapy Clinical Trials in Pediatric Populations.'' The purpose... therapy clinical researchers, and other stakeholders regarding best practices related to cell and...

  8. A case of hyperprolactinemia in patient with metastatic breast cancer: clinical case presentation

    Directory of Open Access Journals (Sweden)

    L. K. Dzeranova

    2012-01-01

    Full Text Available The described clinical case illustrates the importance of careful medical care and follow-up for oncology patients which can prevent high degree of tumor dissemination in case of the disease progression and improve survival rate and quality of life.

  9. Progranulin gene mutation with an unusual clinical and neuropathologic presentation.

    Science.gov (United States)

    Wider, Christian; Uitti, Ryan J; Wszolek, Zbigniew K; Fang, John Y; Josephs, Keith A; Baker, Matthew C; Rademakers, Rosa; Hutton, Michael L; Dickson, Dennis W

    2008-06-15

    Progranulin gene (PGRN) mutations cause frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). Patients usually present with a frontotemporal dementia syndrome and have prominent atrophy and neuronal loss in frontal and temporal cortices and the striatum, with neuronal intranuclear and cytoplasmic inclusions. Clinical, neuropathological, and genetic studies are reported on an individual with PGRN mutation and her family members. We describe a patient with a PGRN c.26C>A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism. Two other family members were affected, one with a behavioral variant frontotemporal dementia syndrome, the other with a diagnosis of probable Alzheimer's disease. At autopsy there was no neuronal loss in the cortex or medial temporal lobe structures, but there was striatal gliosis. Immunohistochemistry for ubiquitin and TDP-43 revealed neuronal cytoplasmic and intranuclear inclusions as well as neurites. This study further expands the clinical and pathological spectrum of PGRN mutations, and suggests the diagnosis could be missed in some individuals with atypical presentations.

  10. A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report

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    Hellani Ali

    2009-04-01

    Full Text Available Abstract Introduction About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase. To our knowledge, the mutation pattern in Arab patients with severe combined immunodeficiency has never been reported previously. Case presentation A 14-month-old Arab boy had clinical features typical of severe combined immunodeficiency. His clinical picture and flow cytometric analysis raised the diagnosis of adenosine deaminase deficiency and prompted us to screen the adenosine deaminase gene for mutation(s. We detected a novel mutation in exon 9 of the adenosine deaminase gene (p.Arg282>Gln, which we believe is the cause of the severe combined immunodeficiency phenotype observed in our patient. Conclusion This is the first report of adenosine deaminase mutation in an Arab patient with severe combined immunodeficiency due to a novel pathogenic mutation in the adenosine deaminase gene.

  11. Hypertensive thalamic hemorrhage. Clinical symptoms and outcomes in 40 cases

    Energy Technology Data Exchange (ETDEWEB)

    Munaka, Masahiro; Nishikawa, Michio; Hirai, Osamu; Kaneko, Takaaki; Watanabe, Syu; Fukuma, Jun; Handa, Hajime

    1988-12-01

    In the past six years, we have had experience with 40 patients with hypertensive thalamic hemorrhages, as verified by CT scan at our hospital within 24 hours. These patients were classified into the following three groups according to the location of the bleeding point and the size of the hematoma: (1) anteromedial (4 cases), (2) posterolateral (16 cases), and (3) massive (20 cases). The (1) and (2) hematomas were small (less than 3 cm in diameter), while those in (3) were large (more than 3 cm in diameter). Twenty cases (50% of all the thalamic hematomas) were small hematomas. The characteristic clinical symptoms of the anteromedial type were a mild disturbance of consciousness and thalamic dementia, while those of the posterolateral type were motor and sensory disturbance, and thalamic aphasia, respectively. Twenty cases (50%) were large hematomas. The clinical symptoms of these cases were mainly consciousness disturbance; 7 of them expired. Based on this experience, it may be considered that the patients whose hematoma size was larger than 3 cm had a poor prognosis and that the patients with the posterolateral type had a poor functional diagnosis.

  12. Pemphigus : A clinical study of 109 cases from Tripoli, Libya

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    Shafi M

    1994-01-01

    Full Text Available From 1981 to 1992, 109 cases (90 females and 19 males of pemphigus were seen in the Department of Dermatology, Central Hospital Tripoli, Libya. Age of onset of the disease varied from 17 to 85 years, while duration of the disease at the time of presentation varied from 3 days to 13 days. On the basis of clinical features and routine histological findings the cases were divided into various subtypes as : pemphigus foliaceus 65 cases, pemphigus vulgaris 34 patients, pemphigus erythematosus 5, herpetiform pemphigus 3 and vegetans type 2 cases. Three of our patients had diabetes mellitus preceding pemphigus, while 12 patients developed steroid induced diabetes. Significant secondary bacterial infection occurred in all cases at some stage of the disease while oral candidiasis occurred in 15 cases. Eczema herpeticum was seen in 4 patients, while 2 had extensive tinea corporis. One of 4 patients of pemphigus vulgaris had complete shedding of nail and 1 female patient had alternate phases of pemphigus foliaceus and generalized pustular psoriasis. The features in our cases of pemphigus foliaceus were somewhat similar to Brazilian pemphigus foliaceus and we had more cases of pemphigus foliaceus, almost exclusively affecting females.

  13. Clinical features of MELAS and its relation with A3243G gene point mutation.

    Science.gov (United States)

    Zhang, Jin; Guo, Junhong; Fang, Wanghui; Jun, Qili; Shi, Kaili

    2015-01-01

    Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) mostly occur in children. The point mutation A3243G of mitochondrial DNA (mtDNA) may work as a specific bio-marker for mitochondrial disorders. The related clinical features, however, may vary among individuals. This study therefore investigated the relation between MELAS clinical features and point mutation A3243G of mtDNA, in an attempt to provide further evidences for genetic diagnosis of MELAS. Children with MELAS-like syndromes were tested for both blood lactate level and point mutation A3243G of mtDNA. Further family study was performed by mtDNA mutation screening at the same loci for those who had positive gene mutation at A3243G loci. Those who were negative for A3243G point mutation were examined by muscle biopsy and genetic screening. Both clinical and genetic features were analyzed. In all 40 cases with positive A3243G mutation, 36 children fitted clinical diagnosis of MELAS. In other 484 cases with negative mutation, only 8 children were clinically diagnosed with MELAS. Blood lactate levels in both groups were all elevated (P>0.05). In a further genetic screening of 28 families, 10 biological mothers and 8 siblings of MELAS children had positive A3243G point mutations but without any clinical symptoms. Certain difference existed in the clinical manifestations between children who were positive and negative for A3243G mutation of mtDNA but without statistical significance. MELAS showed maternal inheritance under most circumstances.

  14. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases.

    Science.gov (United States)

    Hardie, R J; Pullon, H W; Harding, A E; Owen, J S; Pires, M; Daniels, G L; Imai, Y; Misra, V P; King, R H; Jacobs, J M

    1991-02-01

    Nineteen cases are described, including 12 cases from three different families and 7 nonfamilial cases, in which multisystem neurological disease was associated with acanthocytosis in peripheral blood and normal plasma lipoproteins. Mild acanthocytosis can easily be overlooked, and scanning electron microscopy may be helpful. Some neurologically asymptomatic relatives with significant acanthocytosis were identified during family screening, including some who were clinically affected. The mean age of onset was 32 (range 8-62) yrs and the clinical course was usually progressive but there was marked phenotypic variation. Cognitive impairment, psychiatric features and organic personality change occurred in over half the cases, and more than one-third had seizures. Orofaciolingual involuntary movements and pseudobulbar disturbance commonly caused dysphagia and dysarthria that was sometimes severe, but biting of the lips or tongue was rarely seen. Chorea was seen in almost all symptomatic cases but dystonia, tics, involuntary vocalizations and akinetic-rigid features also occurred. Two cases had no movement disorder at all. Computerized tomography often demonstrated cerebral atrophy. Caudate atrophy was seen less commonly, and nonspecific focal and symmetric signal abnormalities from the caudate or lentiform nuclei were seen by magnetic resonance imaging in 3 out of 4 cases. Depression or absence of tendon reflexes was noted in 13 cases and neurophysiological abnormalities often indicated an axonal neuropathy. Sural nerve biopsies from 3 cases showed evidence of a chronic axonal neuropathy with prominent regenerative activity, predominantly affecting the large diameter myelinated fibres. Serum creatine kinase activity was increased in 11 cases but without clinical evidence of a myopathy. Postmortem neuropathological examination in 1 case revealed extensive neuronal loss and gliosis affecting the corpus striatum, pallidum, and the substantia nigra, especially the pars

  15. Crescentic glomerulonephritis: A clinical and histomorphological analysis of 46 cases

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    Ruchika Gupta

    2011-01-01

    Full Text Available Background: Crescentic glomerulonephritis (CrGN, defined as crescents involving more than 50% of the glomeruli, includes pauci-immune, immune complex-mediated and anti-glomerular basement membrane disease. Objectives: The present study was aimed at evaluating the various clinical, biochemical and histological parameters in CrGN with respect to these categories and clinical outcome. Materials and Methods: Renal biopsies diagnosed as CrGN between Jan 2008 and Feb 2010 were included. Clinical and laboratory parameters were retrieved along with the therapeutic approach and clinical outcome, wherever available. Renal biopsy slides were evaluated for various glomerular, tubulo-interstitial and arteriolar features. Appropriate statistical tests were applied for significance. Results: A total of 46 cases of CrGN were included; majority (71.7% of cases were pauci-immune (PI while 28.3% were immune complex-mediated (IC. Among clinical features, gender ratio was significantly different between PI and IC groups (P = 0.006. The various histological parameters, including proportion of cellular crescents, tuft necrosis and Bowman′s capsule rupture, were similar in both the groups. Four unusual associations, including idiopathic membranoproliferative glomerulonephritis (MPGN, multibacillary leprosy, acute lymphoblastic leukemia and C1q nephropathy were detected. Adequate follow-up information was available in 21 (46% of the patients. Of these, 11 (52.4% were dialysis-dependent at the last follow-up. Adult patients required renal replacement therapy more frequently than pediatric cases (P = 0.05. Presence of arteriolar fibrinoid necrosis also showed association with poor clinical outcome (P = 0.05. Conclusions: Crescentic glomerulonephritis remains one of the main causes of acute renal failure with histological diagnosis. Immunohistologic examination is essential for accurate classification into one of the three categories. This condition should be considered

  16. IMPULSIVE-COMPULSIVE DISORDERS IN PARKINSON'S DISEASE. CLINICAL CASES

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    N. V. Fedorova

    2015-01-01

    Full Text Available Objective – a description of clinical cases of impulsive­compulsive disorders in Parkinson,s disease. The first clinical case. Patient N., 75 years old, suffering for 15 years from Parkinson,s disease, akinetic­rigid form of the disease, stage 4 by Hyun–Yar. Since 2009, he received levodopa/carbidopa 250/25 mg 5 times/day (daily dose of 1250 mg of levodopa; pramipexole 3.5 mg per day (daily dose 3.5 mg, amantadine sulfate 100 mg 5 times/day (daily dose 500 mg. While taking antiparkinsonian drugs the patient developed behavioral disorders such as dopamine disregulatory syndrome combined with punding, hypersexuality and compulsive shopping accompanied by visual hallucinations. The total equivalent dose of levodopa was 1600 mg per day. The second clinical case. Patient R., 52 years old, suffers from Parkinson,s disease about 5 years, a mixed form. She complained of slowness of movement, tremor in her left hand, sleep disturbances, poor mood. The clinic was appointed piribedil 50 mg 3 times per day. Despite the fact that the patient took only one of dopaminergic drugs in a therapeutic daily dose, she developed impulsive­compulsive disorder as hyper­ sexuality, compulsive shopping and binge eating. Results. In the first clinical case for correction of behavioral disorders in patients with Parkinson,s disease levodopa/carbidopa dose was reduced to 750 mg per day (3/4 Tab. 4 times a day; added to levodopa/benserazide dispersible 100 mg morning and levodopa/benserazide 100 mg before sleep (total dose of levodopa of 950 mg per day. Amantadine sulfate and pramipexole were canceled. It was added to the therapy of atypical neuroleptic clozapine dose 6,25 mg overnight. After 3 months marked improvement, regressed visual hallucina­ tions, improved family relationships, background mood became more stable. The patient continue to sing karaoke, but this hobby has be­ come less intrusive. In the second clinical event correction impulsive

  17. Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.

    Science.gov (United States)

    Mari, Francesca; Giachino, Daniela; Russo, Lucia; Pilia, Giuseppe; Ariani, Francesca; Scala, Elisa; Chiappe, Francesca; Sampieri, Katia; Caporossi, Aldo; Renieri, Alessandra; Lasorella, Giacomo

    2006-06-01

    Blepharophimosis-ptosis-epicanthus inversus syndrome (OMIM #U10100) is a rare autosomal-dominant disorder in which an eyelid malformation is associated (type I) or not (type H) with premature ovarian failure in the affected female. It is invariably characterized by 4 major features: (1) bilaterally shortened horizontal palpebral fissure (blepharophimosis); (2) severe impairment of the superior palpebral levator (ptosis); (3) a vertical skin fold arising from the lower eyelid, which inserts medially in the upper lid (epicanthus inversus) and (4) an increased inner can-thal distance with a normal outer canthal distance (telecanthus). The mutations causing this disorder are found in the FOXL2 gene, a forkhead transcription factor, located in 3q23. Although many patients with blepharophimosis-ptosis-epicanthus inversus syndrome have an affected parent, a conspicuous number of sporadic cases also have been reported. We describe here a sporadic case with a mutation in the FOXL2 gene that was well characterized both clinically and molecularly.

  18. Crown lengthening: basic principles, indications, techniques and clinical case reports.

    Science.gov (United States)

    Yeh, Simon; Andreana, Sebastiano

    2004-11-01

    Sometimes, in order to properly restore teeth, surgical intervention in the form of a crown-lengthening procedure is required. Crown lengthening is a periodontal resective procedure, aimed at removing supporting periodontal structures to gain sound tooth structure above the alveolar crest level. Periodontal health is of paramount importance for all teeth, both sound and restored. For the restorative dentist to utilize crown lengthening, it is important to understand the concept of biologic width, indications, techniques and other principles. This article reviews these basic concepts of clinical crown lengthening and presents four clinical cases utilizing crown lengthening as an integral part of treatments, to restore teeth and their surrounding tissues to health.

  19. Requiring case management meetings to be conducted outside the clinic.

    Science.gov (United States)

    Strickler, David Charles

    2011-10-01

    In this Open Forum a psychiatric health care consumer recounts his experience with his state's requirement to hold case management meetings outside of the clinic. Over time, the author found that meeting elsewhere amounted to being put on public display, and he felt embarrassed and powerless to change the situation. Requiring people with psychiatric disorders to meet outside a clinical setting may violate the Health Insurance Portability and Accountability Act and human rights. This New Hampshire state policy needs to be changed because it undermines treatment and reinforces the stigma that many consumers already feel because of their disability.

  20. Cytokine gene polymorphisms across tuberculosis clinical spectrum in Pakistani patients.

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    Ambreen Ansari

    Full Text Available BACKGROUND: Pakistan ranks 7(th globally in terms of tuberculosis (TB disease burden (incidence 181/100000 pop./yr; prevalence of 329/pop./yr. Reports from different populations show variable associations of TB susceptibility and severity with cytokine gene polymorphisms. Tuberculosis clinical severity is multi-factorial and cytokines play a pivotal role in the modulation of disease severity. We have recently reported that the ratio of two key cytokines (IFNgamma and IL10 show significant correlation with the severity spectrum of tuberculosis. The objective of the current study was to analyze the frequency of cytokine gene polymorphisms linked to high and low responder phenotypes (IFNgamma +874 T(hi-->A(lo and IL10 -1082 G(lo-->A(hi in tuberculosis patients. METHODS AND FINDINGS: STUDY GROUPS WERE STRATIFIED ACCORDING TO DISEASE SITE AS WELL AS DISEASE SEVERITY: Pulmonary N = 111 (Minimal, PMN = 19; Moderate, PMD = 63; Advance, PAD = 29; Extra-pulmonary N = 67 (Disseminated DTB = 20, Localized LTB = 47 and compared with healthy controls (TBNA = 188. Genotype analyses were carried out using amplification refractory mutation system-PCR (ARMS-PCR and stimulated whole blood (WB culture assay was used for assessing cytokine profiles. Our results suggest that the IFNgamma +874 TT genotype and T allele was overrepresented in PMN (p = 0.01 and PMD (p = 0.02. IFNgamma +874 TT in combination with IL10 GG(lo genotypes showed the highest association (chi(2 = 6.66, OR = 6.06, 95% CI = 1.31-28.07, p = 0.01. IFNgamma AA(lo on the other hand in combination with IL10 GG(lo increased the risk of PAD (OR = 5.26; p = 0.005 and DTB (OR = 3.59; p = 0.045. CONCLUSION: These findings are consistent with the role of IL10 in reducing collateral tissue damage and the protective role of IFNgamma in limiting disease in the lung.

  1. Relationship between the iceA gene of Helicobacter pylori and clinical outcomes

    Directory of Open Access Journals (Sweden)

    Huang XJ

    2016-07-01

    Full Text Available Xiaojun Huang,1,2 Zhaomin Deng,1 Qiang Zhang,1 Wanyi Li,1 Baoning Wang,1 Mingyuan Li1,3 1Department of Microbiology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, People’s Republic of China; 2Department of Microbiology, School of Medicine, Hubei University for Nationalities, Enshi, People’s Republic of China; 3State Key Laboratory of Oral Diseases, Chengdu, People’s Republic of China Background: The complex pathogenesis of Helicobacter pylori (H. pylori and the features of the host influence the diverse clinical outcomes. A mass of studies about virulence genes have accelerated the exploration of pathogenesis of H. pylori infection. Induced by contact with epithelium gene A (iceA is one of the biggest concerned virulence genes. In this study, we explored the relationship between iceA and the magnitude of the risk for clinical outcomes and the prevalence of iceA-positive H. pylori in People’s Republic of China and other countries.Methods: We searched the electronic databases of PubMed, Embase, CNKI, VIP, and Wanfang by literature search strategy. The studies conforming to the inclusion criteria were assessed. With these data, we systematically analyzed the relationship between the iceA gene of H. pylori and clinical outcomes.Results: Nineteen articles with 22 studies, a total of 2,657 cases, were involved in the study. The iceA1 gene was significantly associated with peptic ulcer disease (odds ratio =1.28, 95% confidence interval =1.03–1.60; P=0.03, especially in People’s Republic of China (odds ratio =1.40, 95% confidence interval =1.07–1.83; P=0.01. Moreover, the prevalence of iceA1 was significantly higher than iceA2 in People’s Republic of China (P<0.0001. The prevalence of both iceA1 and iceA2 was significantly different (P<0.0001 in People’s Republic of China and in other countries.Conclusion: The system analysis showed that infection with the iceA1-positive H. pylori significantly

  2. [Clinical single case study (n-of-1 trial)].

    Science.gov (United States)

    Speich, R

    1998-09-01

    We conducted a single case (N-of-1) randomized trial in two patients. In the first case with bronchiolitis obliterans after lung transplantation a beneficial effect of inhaled steroids could be documented. The second patient suffered from symptoms compatible with HIV-associated M. Addison improving after cortisone, but the adrenocortical function was normal. Because the patient required the cortison treatment to be continued, we performed a n-of-1 trial which demonstrated the inefficacy of cortisone. This experience underscores the feasibility and usefulness of N-of-1 randomized clinical trials in medical practice.

  3. Nelson’s Syndrome: Questions and Answers (Clinical Case

    Directory of Open Access Journals (Sweden)

    Z.P. Nizhinska-Astapenko

    2016-08-01

    Full Text Available This clinical case reflects the variability in the course of chronic adrenal insufficiency after bilateral adrenalectomy for Itsenko — Cushing disease, the development and growth of pituitary adenoma, which can lead to hemorrhagic stroke in the most recurrent pituitary tumor. The objective of pathogenetic treatment is to reduce the secretion of adrenocorticotropic hormone secretion, to restore normal secretion of tropic pituitary hormones, as well as the prevention of further growth of pituitary tumor and adequate compensation of adrenal insufficiency. The case shows labile course of postoperative adrenal insufficiency and, consequently, different approaches to the diagnosis and the need for substitution therapy at different stages of the disease.

  4. Cervical Paraganglioma Mimicking Thyroid Nodule: A Rare Clinical Case

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    Berna İmge Aydoğan

    2016-01-01

    Full Text Available Objective. Paraganglioma is a rare neuroendocrine tumor. When it is located in the neck, it is commonly misdiagnosed as other thyroid neoplasms. Case Report. We report a case of cervical paraganglioma in a 55-year-old female. Patient was admitted to our clinic with goiter and neck pain. Thyroid ultrasonography revealed a 20 mm solitary, heterogeneous nodule located in the upper pole of left thyroid lobe. Fine needle aspiration cytology was nondiagnostic. She underwent left lobectomy and histopathology showed paraganglioma. Discussion. Cervical paragangliomas should be considered in the differential diagnosis of thyroid nodules.

  5. ACE I/D gene polymorphism in diabetic nephropathy: Clinical implications

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    M. Kaleemullah Khan

    2011-01-01

    Full Text Available Diabetic nephropathy (DN is a major microvascular complication accounting for about 30% of End-Stage Renal Disease (ESRD cases. An insertion/deletion (I/D polymorphism of the gene encoding angiotensin-I converting enzyme (ACE is reported to be a candidate gene predisposing to diabetic nephropathy. Accordingly, we investigated the ACE I/D gene polymorphism in 52 Type 2 diabetes mellitus (T2DM cases suffering from nephropathy as assessed by 24 hrs urinary protein levels. 50 age and sex matched healthy subjects served as controls. ACE I/D genotyping was carried out by polymerase chain reaction (PCR amplification using allele specific primers. The frequencies of ACE DD, ID and II genotypes in the diabetic nephropathy patients were 38.5% , 50% and 11.5% and in the control subjects, 22%, 38% and 40% respectively. There was an increase of 16.5% in the frequency of DD genotype in the patients compared to controls. The frequency of D allele in the patients was 63% which was found to be statistically significant (p< 0.05, Odds ratio=2.6 compared to 41% in the controls. These results indicate that Type 2 diabetic patients with D allele (those with DD & ID genotypes have more than two fold risk of developing nephropathy. Clinical implications of ACE genotyping in planning for patient’s management have been discussed.

  6. Lineage switch in relapse of acute leukemia with rearrangement of MLL gene (KMT2A. literature review and case reports

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    E. A. Zerkalenkova

    2016-01-01

    Full Text Available Lineage switch is a rare phenomenon in which a transition from lymphoid to myeloid was observed in relapse of acute leukemia, or vice versa. This paper presents the four clinical case reports of acute lymphoblastic leukemia with MLL gene rearrangement (KMT2A with myeloid phenotype in relapse.

  7. Clinical application of whole-genome sequencing to inform treatment for multidrug-resistant tuberculosis cases.

    Science.gov (United States)

    Witney, Adam A; Gould, Katherine A; Arnold, Amber; Coleman, David; Delgado, Rachel; Dhillon, Jasvir; Pond, Marcus J; Pope, Cassie F; Planche, Tim D; Stoker, Neil G; Cosgrove, Catherine A; Butcher, Philip D; Harrison, Thomas S; Hinds, Jason

    2015-05-01

    The treatment of drug-resistant tuberculosis cases is challenging, as drug options are limited, and the existing diagnostics are inadequate. Whole-genome sequencing (WGS) has been used in a clinical setting to investigate six cases of suspected extensively drug-resistant Mycobacterium tuberculosis (XDR-TB) encountered at a London teaching hospital between 2008 and 2014. Sixteen isolates from six suspected XDR-TB cases were sequenced; five cases were analyzed in a clinically relevant time frame, with one case sequenced retrospectively. WGS identified mutations in the M. tuberculosis genes associated with antibiotic resistance that are likely to be responsible for the phenotypic resistance. Thus, an evidence base was developed to inform the clinical decisions made around antibiotic treatment over prolonged periods. All strains in this study belonged to the East Asian (Beijing) lineage, and the strain relatedness was consistent with the expectations from the case histories, confirming one contact transmission event. We demonstrate that WGS data can be produced in a clinically relevant time scale some weeks before drug sensitivity testing (DST) data are available, and they actively help clinical decision-making through the assessment of whether an isolate (i) has a particular resistance mutation where there are absent or contradictory DST results, (ii) has no further resistance markers and therefore is unlikely to be XDR, or (iii) is identical to an isolate of known resistance (i.e., a likely transmission event). A small number of discrepancies between the genotypic predictions and phenotypic DST results are discussed in the wider context of the interpretation and reporting of WGS results.

  8. Clinical analysis of acute anterior uveitis in 215 cases

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    Xue-Wei Zhou

    2013-11-01

    Full Text Available AIM: To analyze the etiology, therapeutic effects,risk of relapse and prognosis of acute anterior uveitis.MEHTODS: Medical history of 215 patients with acute anterior uveitis who underwent treatment in Department of Ophthalmology, People's Hospital of Fenghua was collected, together with results of clinical examinations and auxiliary examinations. The data were studied in terms of therapeutic effects, etiological factors, prognosis and relapse rate. RESULTS: In 85 cases(39.5%, the cause was identified, and among the among the most frequent causes were traumatic or surgical injury, viral infection and glaucomatocyclitic crisis. After treatment, the best corrected visual acuity was no less than 1.0 in 153 cases(71.2%, between 0.5 and 1.0 in 55 cases(25.6%, between 0.3 and 0.5 in 4 cases(1.9%, between 0.05 and 0.3 in 2 cases(0.9%, and less than 0.05 in 1 case(0.5%. During the follow-up of more than 6 months, relapse occurred in 4 cases(1.9%during 4-6 months, in 7 cases(3.2%during 7-12 months, in 10 cases(4.7%during 13-24 months, and in 3 cases(1.4%during 25-60 months. CONCLUSION: The etiology of acute anterior uveitis is complicated and mostly idiopathic. Vision prognosis is good after treatment, but therelapse rate is high and can cause visual impairment, so better understanding should be gained of its relapse and its prevention and early treatment should be emphasized.

  9. A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1.

    Science.gov (United States)

    Koge, Junpei; Hayashi, Shintaro; Yamaguchi, Hiroo; Tateishi, Takahisa; Murai, Hiroyuki; Kira, Jun-Ichi

    2016-10-28

    A 37-old-male with a history of early childhood mental retardation was admitted to our hospital. He experienced recurrent syncopes at 23 years old, and at age 35 gait disturbance and hearing impairment developed gradually and worsened over time. His grandparents were in a consanguineous marriage. He was of short stature and absent of tendon xanthomas. Neurological examinations revealed scanning speech, dysphagia, right sensorineural hearing loss, spasticity in both upper and lower extremities, and spastic gait. Tendon reflexes were brisk throughout, and Babinski and Chaddock reflexes were both positive bilaterally. Laboratory tests revealed elevated lactate and pyruvate concentrations in both serum and cerebrospinal fluid. Fluid attenuated inversion recovery magnetic resonance imaging showed high intensity lesions in the bilateral cerebellar hemispheres, pyramidal tracts in the brainstem, and internal capsules symmetrically. Brain magnetic resonance spectroscopy measurements revealed an elevated lactate/creatine plus phosphocreatine ratio and a decreased N-acetyl-aspartate/creatine plus phosphocreatine ratio in the cerebellum. At this point, mitochondrial diseases, particularly myoclonic epilepsy with ragged-red fibers (MERRF), to be the most likely cause. We performed a biopsy of his left biceps brachii muscle, showing variations in fiber size with occasional central nuclei and very few ragged-red fibers. Blood mitochondrial respiratory enzyme assays showed normal values with elevated citrate synthase activity, and mitochondrial DNA analyses for MERRF revealed no pathogenic mutations. We then explored other possibilities and detected an elevated serum cholestanol concentration of 20.4 μg/ml (reference value mimicking mitochondrial diseases, but with negative results for muscle pathology or genetic analyses. The measurements of serum cholestanol concentrations might be useful in diagnosing such atypical cases.

  10. Clinical and histologic features of 64 cases of steatocystoma multiplex.

    Science.gov (United States)

    Cho, Soyun; Chang, Sung-Eun; Choi, Jee-Ho; Sung, Kyung-Jeh; Moon, Kee-Chan; Koh, Jai-Kyoung

    2002-03-01

    Steatocystoma multiplex (SM) shares many clinical features and may show overlapping histopathological features with eruptive vellus hair cyst (EVHC). Clinical data and pathologic features of 64 patients with SM were evaluated in detail. Most of the cases were sporadic, with an average onset age of 26 years and distribution on the arms, chest, axillae, and neck. All cases exhibited eosinophilic cuticle and lack of granular layer, and 17-42% displayed vellus hair, hair follicles, keratin, and smooth muscle components within the cavity, in the wall, or adjacent to it. The results of this study add further evidence to the hypothesis that SM is a hamartomatous condition and that SM and EVHC are variants of one disorder which originates in the pilosebaceous duct.

  11. Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

    Science.gov (United States)

    Mariani, Louise-Laure; Tesson, Christelle; Charles, Perrine; Cazeneuve, Cécile; Hahn, Valérie; Youssov, Katia; Freeman, Leorah; Grabli, David; Roze, Emmanuel; Noël, Sandrine; Peuvion, Jean-Noel; Bachoud-Levi, Anne-Catherine; Brice, Alexis; Stevanin, Giovanni; Durr, Alexandra

    2016-09-01

    Huntington disease (HD), a prototypic monogenic disease, is caused by an expanded CAG repeat in the HTT gene exceeding 35 units. However, not all patients with an HD phenotype carry the pathological expansion in HTT, and the positive diagnosis rate is poor. To examine patients with HD phenotypes to determine the frequency of HD phenocopies with typical features of HD but without pathological CAG repeat expansions in HTT in an attempt to improve the positive diagnosis rate. Between January 1, 2004, and April 18, 2011, a total of 226 consecutive index patients with an HD phenotype were referred to specialized clinics of the French National Huntington Disease Reference Centre for Rare Diseases. They underwent detailed clinical examination and follow-up, as well as neuropsychological, biological, imaging, and genetic examinations. Nucleotide expansions in JPH3, ATN1, TBP, and C9ORF72 and mutations in PRNP, as well as acquired conditions commonly causing HD phenocopies, were first screened. The diagnostic rate of HD phenocopies and frequency of other etiologies using deep clinical phenotyping and next generation sequencing. Our goal was to improve the genetic diagnosis of HD phenocopies and to identify new HD related genes. One hundred ninety-eight patients carried a pathological CAG repeat expansion in HTT, whereas 28 patients (12 women and 16 men) did not. Huntington disease phenocopies accounted for 12.4%, and their mean (SD) age at onset was similar to those of the HD-HTT group (47.3 [12.7] years vs 50.3 [16.4] years, P = .29). We first identified 3 patients with abnormal CTG expansions in JPH3, a fourth patient with an antiphospholipid syndrome, and a fifth patient with B12 avitaminosis. A custom-made 63-gene panel was generated based on clinical evolution and exome sequencing. It contained genes responsible for HD phenocopies and other neurodegenerative conditions, as well as candidate genes from exome sequencing in 3 index cases with imaging features of brain

  12. Familial adenomatous polyposis associated APC gene mutation - A case study

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    Avinash Bardia1, Santosh K. Tiwari1, Sandeep K. Vishwakarma1, Md. Aejaz Habeeb1, Pratibha Nallari2, Aleem A. Khan1

    2013-08-01

    Full Text Available Familial adenomatous polyposis (FAP is an autosomal dominant condition characterized by diffuse intestinal polyposis, specific gene mutation, and predisposition for developing colon cancer. Left untreated, patients with FAP will develop colorectal carcinoma during early adulthood. Hence, early detection and surgical intervention are of the utmost importance. Colectomy is required and may include an ileal pouch with ileo-anal anastomosis, which eli-minates the colon and rectal disease while preserving fecal continence and avoidance of a permanent ileostomy. We report a case of colorectal cancer along with FAP showed features consistent with adenomatous polyposis coli and no evidence of malignancy was seen after the surgery.

  13. Tattoo-Associated Skin Reactions — Clinical Cases

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    Fekete GyL

    2013-06-01

    Full Text Available Tatooing has been practiced for thousands of years. It has become a common practice for people of Western countries in the last 10-20 years, where approximately 3-5% of the population has at least one tattoo. Various pigmented substances introduced into the skin may cause the occurrence of adverse irritative, immunological, infectious or other reactions of the skin. We present three clinical cases with adverse reactions after tattooing.

  14. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

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    Ozyurt Abdullah

    2015-06-01

    Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

  15. Apicetomy or dental implant: Report of a clinical case.

    OpenAIRE

    Enrique Fernández-Bodereau; Patricia Tortolini

    2012-01-01

    We report a clinical case of a patient who underwent apicectomy on an upper premolar, presumably by endodontic done improperly, and have cast a bolt where the extraction run the risk of tooth fracture. Failed such treatment, an implant is performed, placed immediately after extraction, in which bone filling with xenograft and guided bone regeneration with resorbable collagen membrane was done. From this we deduce that the phase diagnosed is of paramount importance. Two months after functional...

  16. An atypical case of fragile X syndrome caused by a deletion that includes FMRI gene

    Energy Technology Data Exchange (ETDEWEB)

    Quan, F.; Zonana, J.; Gunter, K.; Peterson, K.L.; Magenis, R.E., Popovich, B.W. [Shriners Hospital for Crippled Children, Portland, OR (United States)

    1995-05-01

    Fragile X syndrome is the most common form of inherited mental retardation and results from the transcriptional inactivation of the FMR1 gene. In the vast majority of cases, this is caused by the expansion of an unstable CGG repeat in the first exon of the FMR1 gene. We describe here a phenotypically atypical case of fragile X syndrome, caused by a deletion that includes the entire FMR1 gene and {ge}9.0 Mb of flanking DNA. The proband, RK, was a 6-year-old mentally retarded male with obesity and anal atresia. A diagnosis of fragile X syndrome was established by the failure of RK`s DNA to hybridize to a 558-bp PstI-XhoI fragment (pfxa3) specific for the 5{prime}-end of the FMR1 gene. The analysis of flanking markers in the interval from Xq26.3-q28 indicated a deletion extending from between 160-500 kb distal and 9.0 Mb proximal to the FMR1 gene. High-resolution chromosome banding confirmed a deletion with breakpoints in Xq26.3 and Xq27.3. This deletion was maternally transmitted and arose as a new mutation on the grandpaternal X chromosome. The maternal transmission of the deletion was confirmed by FISH using a 34-kb cosmid (c31.4) containing most of the FMR1 gene. These results indicated that RK carried a deletion of the FMR1 region with the most proximal breakpoint described to date. This patient`s unusual clinical presentation may indicate the presence of genes located in the deleted interval proximal to the FMR1 locus that are able to modify the fragile X syndrome phenotype. 36 refs., 7 figs.

  17. A Clinical Analysis of Sudden Sensorineural Hearing Loss Cases

    Science.gov (United States)

    Lee, Hyun Soo; Lee, You Jae; Kang, Bo Sung; Lee, Ji Sung

    2014-01-01

    Background and Objectives High-dose systemic steroid therapy is the mainstay treatment for sudden sensorineural hearing loss (SSNHL). Recovery rates from SSNHL range are about 47-63% and are influenced by various prognostic factors. To evaluate the prognostic value of specific clinical parameters, we reviewed 289 cases by clinical and statistical analysis. Subjects and Methods This study included 289 patients with SSNHL who visited the Department of Otolaryngology at Soonchunhyang University Hospital from January 2005 to December 2012. The cases were reviewed retrospectively based on clinical charts. Hearing improvement was evaluated in relation to pure-tone audiogram results, duration between SSNHL onset and time of initial treatment, seasonal incidence, dizziness, patient age, degree of hearing loss, patterns of initial pure-tone audiogram and presence of underlying disease. Results Hearing improvement was observed in 196 of 289 (67.8%) patients; such improvement began within 7 days in most patients, followed by rapid hearing recovery. Cases that failed to show improvement within 14 days were unlikely to achieve hearing recovery. The more severe the hearing loss during the early stage, the lower the hearing recovery rates. Patients aged less than 60 years appear to have better prognosis of hearing improvement compared to those who are over 60 years. Conclusions Important prognostic factors for recovery in patients with SSNHL include the time of initiating treatment after symptom onset, the degree of early-stage hearing loss, and the age of the affected patient. PMID:25279228

  18. CLINICAL CASE OF RARE TYPE V OSTEOGENESIS IMPERFECTA

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    G. T. Yakhyayeva

    2015-01-01

    Full Text Available Osteogenesis imperfecta, also known as the brittle bone disease, is a clinically heterogenic hereditary connective tissue disease characterized by brittle bones and high risk of skeletal bone fractures. Other observable symptoms, such as deformities of limb and spinal bones, blue sclerae, dentinogenesis imperfecta and progressive hearing loss vary in severity depending on the type of the disease. According to the original classification by D.O. Silence (1979, there are 4 types of osteogenesis imperfecta; however, the number thereof has multiplied due to discovery of new disease-inducing mutations. Type V osteogenesis imperfecta is distinguished by characteristic clinical radiographic symptoms; also, patients with this type of the disease do not feature a type I collagen gene mutation. Nevertheless, all types of osteogenesis imperfecta, including type V, are characterized by high bone brittleness, frequent fractures and further bone deformities, which is the most common cause of incapacitation of the patients.

  19. Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report

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    Egle Couto

    Full Text Available CONTEXT: High plasmatic homocysteine levels have been associated with arterial and venous thrombosis. The C677T methylene tetrahydrofolate reductase (MTHFR gene mutation is one of the known causes for high homocysteine levels in plasma. Anticardiolipin antibody (ACA is also associated with thrombosis and, along with other clinical complications such as recurrent abortion and stillbirth, is part of the antiphospholipid syndrome. DESIGN: Case report. CASE REPORT: A 19-year-old woman with two gestations and one parity (G2P1 had exhibited deep venous thrombosis in her previous puerperal period. Investigation of thrombophilic factors revealed ACA-IgM and heterozygous C677T mutation in the MTHFR gene. Lupus anticoagulant, protein C, protein S and antithrombin III deficiencies, and Leiden factor V and the G20210A mutation in the prothrombin gene, were not detected. The patient received 55,000 IU of subcutaneous heparin daily, from the 15th to the 36th week of pregnancy, when vaginal delivery took place. There were no clinical complications during the puerperal period and she was discharged three days after delivery, while still using oral anticoagulants.

  20. LOSS OF HETEROZYGOSITY OF ER GENE IN BREAST CANCER AND ITS CLINICAL SIGNIFICANCE

    Institute of Scientific and Technical Information of China (English)

    郑唯强; 郑建明; 卢建; 胡凤仙

    2002-01-01

    Objective: Clinically, the reason of resistance for breast cancer to endocrine therapy has not been well known. The current study attempted to examine loss of heterozygosity (LOH) on the estrogen receptor (ER) gene in breast cancer and its relationship to clinicopathologic findings. Methods: DNAs of tumor tissues and blood lymphocytes were collected from 40 cases of primary breast cancer patients and LOH were detected using the microsatellite repeat assay and combined with other ER immunohistochemical assays. Results: ER-positive staining was observed in 65% of breast cancer. Heterogeneity of ER expression was found. Seven of the patients (17.5%) showed LOH. In three of the seven cases, there was total loss, and there was a marked reduction in the intensity of signal in the other four cases. LOH was associated with histologic grade, occurring more frequently in ER-negative and lymph node metastasis group, but not with tumor size and patient ages. Conclusion: This result implied that LOH of the ER gene may have an important role in the progression of breast cancer. It was postulated that the lack of ER function induced by LOH may contributed to endocrine therapy resistance of breast cancer since the tumor clone would escape from the ER regulation, obtain growth predisposition and finally lost response to therapy.

  1. Clinical findings in two cases of atypical scrapie in sheep: a case report

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    Chaplin Melanie

    2007-02-01

    Full Text Available Abstract Background Atypical scrapie is a recently recognised form of transmissible spongiform encephalopathy of sheep that differs from classical scrapie in its neuropathological and biochemical features. Most cases are detected in apparently healthy sheep and information on the clinical presentation is limited. Case presentation This report describes the clinical findings in two sheep notified as scrapie suspects and confirmed as atypical scrapie cases by immunohistochemistry and Western immunoblotting. Although both sheep displayed signs suggestive of a cerebellar dysfunction there was considerable variation in the individual clinical signs, which were similar to classical scrapie. Conclusion Any sheep presenting with neurological gait deficits should be assessed more closely for other behavioural, neurological and physical signs associated with scrapie and their presence should lead to the suspicion of scrapie.

  2. Onchomycosis – a clinical and mycological study of 75 cases

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    Neerja Puri

    2012-07-01

    Full Text Available Onychomycosis or fungal infection of the nails is a common disease, especially in older persons. A mycological study of onchomycosis was undertaken in 75 patients. The nails were judged to be infected by their clinical appearance. There were a total of 75 suspected cases of onychomycosis. Of these 75 cases 22.6% were positive by direct microscopy and 33.3% were culture positive. Of these 75 cases, 18 were males (24% and 57 (76 % were females, male to female ratio being. The commonest age group was 31-40 years followed by 21-30 years. The finger nails were more frequently involved. i.e. 45 (60 %, followed by toe nails 30 (40 % and both in 18 (24% cases. Ratio of finger nail to toe nail infection was 1.5:1. Distal and lateral subungual onychomycosis (DLSO was the commonest clinical pattern (76% followed by total dystrophic onychomycosis (18.66% and then superficial white onychomycosis (4% and proximal subungual onychomycosis (1.33%. The most common fungal isolates were dermatophytes of which 44% were Trytophyton rubrum, 4% were Trytophyton mentagrophytes. Non dermatophyte moulds constituted 16% of the fungus isolates. Onychomycosis was found to be the commonest in housewives (52%, followed by serviceman / businessman (32% followed by farmers (8% and labourer and student 4% each.

  3. Biomarkers in differentiating clinical dengue cases: A prospective cohort study

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    Gary Kim Kuan Low

    2015-12-01

    Full Text Available Objective: To evaluate five biomarkers (neopterin, vascular endothelial growth factor-A, thrombomodulin, soluble vascular cell adhesion molecule 1 and pentraxin 3 in differentiating clinical dengue cases. Methods: A prospective cohort study was conducted whereby the blood samples were obtained at day of presentation and the final diagnosis were obtained at the end of patients’ follow-up. All patients included in the study were 15 years old or older, not pregnant, not infected by dengue previously and did not have cancer, autoimmune or haematological disorder. Median test was performed to compare the biomarker levels. A subgroup Mann-Whitney U test was analysed between severe dengue and non-severe dengue cases. Monte Carlo method was used to estimate the 2-tailed probability (P value for independent variables with unequal number of patients. Results: All biomarkers except thrombomodulin has P value < 0.001 in differentiating among the healthy subjects, non-dengue fever, dengue without warning signs and dengue with warning signs/severe dengue. Subgroup analysis for all the biomarkers between severe dengue and non-severe dengue cases was not statistically significant except vascular endothelial growth factor-A (P < 0.05. Conclusions: Certain biomarkers were able to differentiate the clinical dengue cases. This could be potentially useful in classifying and determining the severity of dengue infected patients in the hospital.

  4. Clinical Study on Acute Pancreatitis in Pregnancy in 26 Cases

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    Cheng Qihui

    2012-01-01

    Full Text Available Aim. This paper investigated the pathogenesis and treatment strategies of acute pancreatitis (AP in pregnancy. Methods. We analyzed retrospectively the characteristics, auxiliary diagnosis, treatment strategies, and clinical outcomes of 26 cases of patients with AP in pregnancy. Results. All patients were cured finally. (1 Nine cases of 22 mild acute pancreatitis (MAP patients selected automatic termination of pregnancy because of the unsatisfied therapeutic efficacy or those patients’ requirements. (2 Four cases of all patients were complicated with severe acute pancreatitis (SAP; 2 cases underwent uterine incision delivery while one of them also received cholecystectomy, debridement and drainage of pancreatic necrosis, and percutaneous jejunostomy. One case had a fetal death when complicated with SAP; she had to receive extraction of bile duct stones and drainage of abdominal cavity after induced abortion. The other one case with hyperlipidemic pancreatitis was given induced abortion and hemofiltration. Conclusions. The first choice of MAP in pregnancy is the conventional therapy. Apart from the conventional therapy, we need to terminate pregnancy as early as possible for patients with SAP. Removing biliary calculi and drainage is supposed to be considered for acute biliary pancreatitis. Lowering blood lipids treatment should be applied to hyperlipidemic pancreatitis or given to hemofiltration when necessary.

  5. INDICATIONS FOR DISTAL RADIOULNAR ARTHROPLASTY: REPORT ON THREE CLINICAL CASES

    Science.gov (United States)

    Santos, Cláudia; Pereira, Alexandre; Sousa, Marco; Trigeuiros, Miguel; Silva, César

    2015-01-01

    Distal radioulnar arthroplasty is an attractive solution for treating various pathological conditions of the distal radioulnar joint because it allows restoration of stability, load transmission and function. The main indications are: radioulnar impingement after partial or complete resection of the distal ulna; and degenerative, inflammatory or post-traumatic arthritis of the distal radioulnar joint. The authors present three clinical cases of distal radioulnar pathological conditions: two patients with post-traumatic sequelae and one case of distal radioulnar impingement after a Sauvé-Kapandji operation. The three cases were treated surgically with a metallic prosthesis to replace the distal ulna (First Choice - Ascension®). The first two were treated with a resurfacing prosthesis and the last one with a modular prosthesis. All of the patients had achieved pain relief and increased movement of the distal radioulnar joint after one year of postoperative follow-up. PMID:27047827

  6. Dual cusped protostylid: Case report and clinical significance

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    Preeti Bhattacharya

    2016-01-01

    Full Text Available Protostylids are superstructures on maxillary or mandibular molars, which have rarely been reported in literature, and the significance of their presence has also been underestimated. The dental practitioners may easily misdiagnose a tooth, with such conical tubercles as malformed tooth. Interestingly, this is neither a malformation nor an anomaly but rather an important morphological trait of an individual. Once in a while, one may come across such a distinct morphological trait without being able to diagnose. To the authors' best knowledge, only one similar case has been reported previously, and the second such case internationally. Bearing all such facts in mind, the authors attempt to educate the readers towards the existence of such a trait so that it can be identified and studied in larger numbers. Hence, it is the authors' endeavor to report an unusual case of dual cusped maxillary protostylid along with its clinical significance.

  7. BSE case associated with prion protein gene mutation.

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    Jürgen A Richt

    Full Text Available Bovine spongiform encephalopathy (BSE is a transmissible spongiform encephalopathy (TSE of cattle and was first detected in 1986 in the United Kingdom. It is the most likely cause of variant Creutzfeldt-Jakob disease (CJD in humans. The origin of BSE remains an enigma. Here we report an H-type BSE case associated with the novel mutation E211K within the prion protein gene (Prnp. Sequence analysis revealed that the animal with H-type BSE was heterozygous at Prnp nucleotides 631 through 633. An identical pathogenic mutation at the homologous codon position (E200K in the human Prnp has been described as the most common cause of genetic CJD. This finding represents the first report of a confirmed case of BSE with a potential pathogenic mutation within the bovine Prnp gene. A recent epidemiological study revealed that the K211 allele was not detected in 6062 cattle from commercial beef processing plants and 42 cattle breeds, indicating an extremely low prevalence of the E211K variant (less than 1 in 2000 in cattle.

  8. ACTH adenomas transforming their clinical expression: report of 5 cases.

    Science.gov (United States)

    Zoli, Matteo; Faustini-Fustini, Marco; Mazzatenta, Diego; Marucci, Gianluca; De Carlo, Eugenio; Bacci, Antonella; Pasquini, Ernesto; Lanzino, Giuseppe; Frank, Giorgio

    2015-02-01

    OBJECT Adrenocorticotropic hormone (ACTH) adenomas have been recognized as a more aggressive and invasive subtype of pituitary adenomas. An additional and clinically relevant peculiarity of these tumors is their ability to modify their clinical expression from a silent form to Cushing disease or vice versa. The aim of this study was to review a series of patients with pituitary adenomas and analyze the clinical implications of the transformation of clinical expression in 5 cases that showed this phenomenon. METHODS The authors retrospectively reviewed a series of patients with pituitary adenoma and collected clinical, biohumoral, and neuroradiological data of those who presented with a transformation from silent ACTH adenomas to functioning tumors or vice versa. In all the cases, preoperative assessment consisted of brain MRI, ophthalmological examination, and complete baseline endocrinological investigation. In patients with clinical and/or biochemical findings suspicious for Cushing syndrome, a low-dose dexamethasone suppression test was performed to rule in or out this diagnosis. Endocrinological evaluations were repeated 1 month after surgery, 3 months after surgery, and every 6 months or annually thereafter. Ophthalmological evaluations and brain MRIs were repeated after 3 months and then every 6 or 12 months thereafter. RESULTS Five patients (2 men and 3 women) included in this series had corticotropic tumors that showed transformation from an endocrinologically silent form to manifest Cushing disease and vice versa. The mean age at presentation was 40 years (range 18-51 years). In 3 of these patients, a transformation from silent to functioning ACTH adenoma with manifest Cushing disease occurred. In 1 patient, the authors observed the transition from a functioning to a silent adenoma with spontaneous resolution of hypercortisolism. Another patient's silent adenoma "shifted" to a functioning adenoma and then regressed back to a silent form with spontaneous

  9. Sweet syndrome: Clinical and Laboratory Findings of 31 Cases

    Directory of Open Access Journals (Sweden)

    Serap Güneş Bilgili

    2013-03-01

    Full Text Available Background and Design: Sweet syndrome is an inflammatory disease characterized by the abrupt onset of pain, red papules and plaques, fever, neutrophilic leukocytosis, and dermal neutrophilic infiltrate. There are not enough data about Sweet syndrome in Turkey. In this article, we studied clinical, laboratory, histopathological, and epidemiological characteristics of patients, who presented to our clinic, and compared the findings with the literature. Materials and Methods: All patients diagnosed with Sweet syndrome in our clinic between 2005 and 2011 were included in the study. The epidemiological, clinical, and laboratory findings were retrospectively evaluated. Results: A total of 31 patients with Sweet’s syndrome - 24 female (77.4%, 7 male (22.6%; aged 23-82 years – included in the study. The average age of the patients was 48 years. Cutaneous lesions were most frequently localized in the upper extremity. Conjunctivitis was the common systemic manifestation, followed by fever, arthralgia, and myalgia. The most common trigger factor was infections of the upper respiratory tract. In histopathological evaluations of skin biopsies, dense neutrophil infiltration compatible with Sweet syndrome was detected in the dermis. Also, findings of vasculitis were determined in 3 patients. Discussion: The clinical and laboratory findings in our study are mostly similar to those reported in the literature. We found evidence of vasculitis in 10% of cases, therefore, we think the presence of vasculitis does not necessarily rule out the diagnosis of Sweet syndrome

  10. Clinical analysis of 2180 cases of cholelithiasis in Lanzhou

    Directory of Open Access Journals (Sweden)

    DENG Ying

    2013-03-01

    Full Text Available ObjectiveTo investigate the characteristics, management, and outcome of cholelithiasis patients treated in the Lanzhou region of China. MethodsThe clinical data of 2180 cases of cholelithiasis treated between March 2011 and March 2012 were retrospectively collected from the electronic medical records. The significance of differences between each of the features was analyzed by t-test or Chi-squared test. ResultsSurgical intervention was used to treat 84.6% (n=1845 of the cases, of which 1844 cases were cured and one died. The remaining 15.4% (n=335 of cases received conservative (non-surgical treatments. Morbidity was higher among women than men (1187/993. Incidence of gallbladder polyps was not correlated with gallstone presence. Laparoscopic cholecystectomy was performed in 1446 cases, and included 1371 cases of laparoscopic cholecystectomy and 399 cases of open cholecystectomy. Both the time and amount of intraoperative bleeding, as well as the time to complete the cholecystectomy, were significantly lower for the laparoscopic procedure than the open procedure (P<0.05. The laparoscopic procedure had a significantly lower incidence of postoperative biliary fistula (vs. open cholecystectomy, P<0.05, but no other complications were significantly different between the two groups. When the overall cases were stratified according to geographical regions of the Lanzhou area, differences were observed in the incidences among females to males, age groups, and dietary practices. ConclusionCompared to open cholecystectomy, laparoscopic cholecystectomy is safer, since it requires a shorter operative time, produces less intraoperative bleeding, and is associated with less postoperative biliary fistula. The etiologies of cholelithiasis vary by geographic region and may help to develop effective targeted preventive strategies.

  11. Expression level of CDX2 gene in acute myeloid leukemia and its clinical significance

    Institute of Scientific and Technical Information of China (English)

    陆瀆

    2012-01-01

    Objective To explore the expression and clinical significance of Caudal-type homeobox transcription factor 2(CDX2) gene in acute myeloid leukemia (AML) patients. Methods Real time quantitative PCR(RQ-PCR) was used to test the expression level of CDX2 gene in 108 de novo AML patients and the clinical features

  12. GeneChaser: Identifying all biological and clinical conditions in which genes of interest are differentially expressed

    Directory of Open Access Journals (Sweden)

    Venkatasubrahmanyam Shivkumar

    2008-12-01

    Full Text Available Abstract Background The amount of gene expression data in the public repositories, such as NCBI Gene Expression Omnibus (GEO has grown exponentially, and provides a gold mine for bioinformaticians, but has not been easily accessible by biologists and clinicians. Results We developed an automated approach to annotate and analyze all GEO data sets, including 1,515 GEO data sets from 231 microarray types across 42 species, and performed 12,658 group versus group comparisons of 24 GEO-specified types. We then built GeneChaser, a web server that enables biologists and clinicians without bioinformatics skills to easily identify biological and clinical conditions in which a gene or set of genes was differentially expressed. GeneChaser displays these conditions in graphs, gives statistical comparisons, allows sort/filter functions and provides access to the original studies. We performed a single gene search for Nanog and a multiple gene search for Nanog, Oct4, Sox2 and LIN28, confirmed their roles in embryonic stem cell development, identified several drugs that regulate their expression, and suggested their potential roles in sex determination, abnormal sperm morphology, malaria infection, and cancer. Conclusion We demonstrated that GeneChaser is a powerful tool to elucidate information on function, transcriptional regulation, drug-response and clinical implications for genes of interest.

  13. Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

    DEFF Research Database (Denmark)

    Jeppesen, Tina Dysgaard; Schwartz, M.; Colding-Jorgensen, E.;

    2008-01-01

    The Twinkle gene product is important for mtDNA replication. Only a few reports have investigated the clinically effect of mutations in this gene. We describe a new de novo mutation (1110C > A) in the PEO1 gene in a mother and her two sons. The mother had progressive ophthalmoplegia, limb weakness...

  14. An approach for immunodiagnosis of clinical cases of filariasis.

    Science.gov (United States)

    Gupta, P K; Raychaudhury, C; Bandopadhyay, A K; Ghosh, D K

    1990-01-01

    In this communication an immunodiagnostic approach has been adopted for detection of antigen and antibody in amicrofilaeamic Mf(-) patients by countercurrent immuno electrophoresis (CCIE) and immunodiffusion (ID). Using Setaria cervi and Immune Complex (IC) antigens, out of fifteen clinical cases the number of positive patients in CCIE were twelve and ten respectively. Sixty percent of the Mf(-) cases were positive in antigen detection against both the homologous and heterologous antibody. In ID nine Mf(-) cases gave precipitin bands against S. cervi antigen while with IC antigens ten patients were positive. In similar experiments, it was found that out of fifteen Mf(-) cases nine and eleven patients were positive in antigen detection against microfilaraemic Mf(+) sera and S. cervi antibody respectively. All the Mf(+) cases were positive in both antibody and antigen detection. From the standpoint of immunodiagnosis the data were analysed by two-way analysis of variance study and a newly developed system using Binomial distribution. The sera from the control group were negative in all the immunodiagnostic tests.

  15. [Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia].

    Science.gov (United States)

    Lin, Xiao-Mei; Wu, Ben-Qing; Huang, Jin-Jie; Li, Bo; Fan, Yi; Lin, Lin-Hua; Yao, Qiu-Xuan; Wu, Wen-Yuan; Yu, Lian

    2013-11-01

    CYP21A2 gene mutations in a child with congenital adrenal hyperplasia (CAH), and the child's parents, were detected in the study. The clinical features, treatment monitoring and molecular genetic mechanism of CAH are reviewed. In the study, DNA was extracted from peripheral blood samples using the QIAGEN Blood DNA Mini Kit; a highly specific PCR primer for CYP21A2 gene was designed according to the sequence difference between CYP2lA2 gene and its pseudogene; the whole CYP2lA2 gene was amplified with PrimeSTAR DNA polymerase (Takara), and the amplification product was directly sequenced to detect and analyze CYP2lA2 gene mutation. The child was clinically diagnosed with CAH (21-hydroxylase deficiency, 21-OHD) at the age of 36 days, and the case was confirmed by genetic diagnosis at the age of 1.5 years. The proband had a homozygous mutation at c.293-13C in the second intron of CYP21 gene, while the parents had heterozygous mutations. Early diagnosis and standard treatment of CAH (21-OHD) should be performed to prevent salt-wasting crisis and reduce mortality; bone aging should be avoided to increase final adult height (FAH), and reproductive dysfunction due to oligospermia in adulthood should be avoided. These factors are helpful for improving prognosis and increasing FAH. Investigating the molecular genetic mechanism of CAH can improve recognition and optimize diagnosis of this disease. In addition, carrier diagnosis and genetic counseling for the proband family are of great significance.

  16. [Dengue with unusual clinical features in an infant. Case report].

    Science.gov (United States)

    Méndez-Domínguez, Nina; Achach-Medina, Kikey; Morales-Gual, Yareni María; Gómez-Carro, Salvador

    2016-07-01

    The state of Yucatan, in Mexico, is an endemic area for dengue. During 2015, there was an unpredicted increase in the number of expected cases of dengue fever. To describe and analyse the clinical presentation, progress, and management of a case of dengue infection with non-specific clinical manifestations in an infant which resulted in a dengue shock syndrome. One month old infant admitted to hospital with a generalised rash and a history of being bitten by an insect. He was diagnosed with anaphylaxis based on clinical manifestations and anamnesis. While in hospital, he developed hypotension, tachycardia, anaemia, and respiratory distress. He was transferred to the intensive care unit, but died on the fifth day. He tested positive to dengue virus in the PCR test and for IgG antibodies using Elisa. The basic cause of death was dengue shock syndrome. Dengue fever in young infant infections may be afebrile, so it is important to suspect them appropriately in the presence of a generalised rash, tachycardia, and hypotension, in order to avoid the deadly consequences of dengue shock. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Running a postmortem service - a business case and clinical experience

    Energy Technology Data Exchange (ETDEWEB)

    Cohen, Marta C.; Whitby, Elspeth; Fink, Michelle A.; Collett, Jacquelene M.; Offiah, Amaka C. [Western Bank, Academic Unit of Child Health, Sheffield Children' s NHS Foundation Trust, University of Sheffield, Sheffield (United Kingdom)

    2015-04-01

    The purpose of the postmortem examination is to offer answers to explain the cause and manner of death. In the case of perinatal, infant and paediatric postmortem examinations, the goal is to identify unsuspected associated features, to describe pathogenic mechanisms and new conditions, and to evaluate the clinical management and diagnosis. Additionally, the postmortem examination is useful to counsel families regarding the probability of recurrence in future pregnancies and to inform family planning. Worldwide the rate of paediatric autopsy examinations has significantly declined during the last few decades. Religious objections to postmortem dissection and organ retention scandals in the United Kingdom provided some of the impetus for a search for non-invasive alternatives to the traditional autopsy; however, until recently, imaging studies remained an adjunct to, rather than a replacement for, the traditional autopsy. In 2012, Sheffield Children's Hospital National Health Service Foundation Trust set up the service provision of minimally invasive fetal, perinatal and neonatal autopsy, while a postmortem imaging service has been running in Melbourne, Australia, since 2008. Here we summarise the essentials of a business case and practical British and Australian experiences in terms of the pathological and radiologic aspects of setting up a minimally invasive clinical service in the United Kingdom and of developing a clinical postmortem imaging service as a complementary tool to the traditional autopsy in Australia. (orig.)

  18. Lichenoid sarcoidosis: a case with clinical and histopathological lichenoid features.

    Science.gov (United States)

    Garrido-Ruiz, Maria C; Enguita-Valls, Ana B; de Arriba, Marta González; Vanaclocha, Francisco; Peralto, Jose Luis Rodriguez

    2008-06-01

    Sarcoidosis is a chronic multisystemic granulomatous disease of unknown etiology, characterized by the formation of noncaseating granulomas in the involved organs. Cutaneous involvement is about 25% with different clinical expressions, the lichenoid pattern being one of the rarest types of cutaneous sarcoidosis. Lichenoid sarcoidosis clinically manifests with multiple scale papules involving extensive skin areas, especially the trunk, limbs, and face mimicking a lichen planus. Although diverse histologic patterns have been previously related, a lichenoid granulomatous infiltrate involving the dermo-epidermal junction has never been reported in lichenoid sarcoidosis. We report a case of a 43-year-old woman presenting with skin-colored pruritic papules, slightly scaling in trunk, extremities, and ears. These symptoms condition continued to expand and worsen for several years. The patient was otherwise in good health with no lymphadenopathies. Histopathologic examination of a skin biopsy showed an upper dermal granulomatous infiltrate of epithelioid cells, without necrosis, distributed in a lichenoid pattern with many cytoid bodies. We consider this may be the first case presenting a characteristic microscopic granulomatous lichen-like pattern in the setting of a clinically lichenoid type of sarcoidosis.

  19. Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.

    Science.gov (United States)

    Moghadasi, Setareh; Eccles, Diana M; Devilee, Peter; Vreeswijk, Maaike P G; van Asperen, Christi J

    2016-04-01

    In 2008, the International Agency for Research on Cancer (IARC) proposed a system for classifying sequence variants in highly penetrant breast and colon cancer susceptibility genes, linked to clinical actions. This system uses a multifactorial likelihood model to calculate the posterior probability that an altered DNA sequence is pathogenic. Variants between 5%-94.9% (class 3) are categorized as variants of uncertain significance (VUS). This interval is wide and might include variants with a substantial difference in pathogenicity at either end of the spectrum. We think that carriers of class 3 variants would benefit from a fine-tuning of this classification. Classification of VUS to a category with a defined clinical significance is very important because for carriers of a pathogenic mutation full surveillance and risk-reducing surgery can reduce cancer incidence. Counselees who are not carriers of a pathogenic mutation can be discharged from intensive follow-up and avoid unnecessary risk-reducing surgery. By means of examples, we show how, in selected cases, additional data can lead to reclassification of some variants to a different class with different recommendations for surveillance and therapy. To improve the clinical utility of this classification system, we suggest a pragmatic adaptation to clinical practice.

  20. A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing.

    Science.gov (United States)

    Jian-Bing, Wu; Cheng-Rang, Li; Yi-Ping, Ma; Nan, Sheng; Hui, Li; Lin, Lin

    2016-02-01

    Bloom syndrome, a rare autosomal-recessive disorder, characteristically presents with photosensitivity, telangiectatic facial erythema, and growth deficiency. We present a case of Bloom syndrome with uncommon clinical manifestations including alopecia areata, eyebrow hair loss, flat nose, reticular pigmentation, and short sharpened distal phalanges with fingernails that were wider than they were long. We detected the Bloom syndrome gene, BLM, which is one of the members of the RecQ family of DNA helicases, and found changes in 2 heterozygous nucleotide sites in the patient as well as her father and mother.

  1. Histopathological and clinical traps in lichen sclerosus: a case report.

    Science.gov (United States)

    Brănişteanu, Daciana Elena; Brănişteanu, Daniel Constantin; Stoleriu, Gabriela; Ferariu, Dan; Voicu, Cătălina Maria; Stoica, Loredana Elena; Căruntu, Constantin; Boda, Daniel; Filip-Ciubotaru, Florina Mihaela; Dimitriu, Andreea; Radu, Cezar Doru

    2016-01-01

    Lichen sclerosus et atrophicus and limited systemic scleroderma (acrosclerosis) are inflammatory skin diseases that ultimately evolve into two distinct modes of atrophic scar formation, but which can easily be confused clinically. They are very rarely associated. The literature has reported cases in which lichen sclerosus was associated with various forms of scleroderma, but often with localized morphea. The characteristic histopathological picture of lichen sclerosus includes a thin epidermis, with orthohyperkeratosis and vascular degeneration in the basal layer, loss of elastic fibers, and band-like inflammatory infiltrate in the papillary dermis, while systemic sclerosis is characterized by excessive deposition of collagen in the dermis, accompanied by reduction in adnexal structures and their entrapment in collagen, and the presence of perivascular lymphocytic inflammatory infiltrate. We present the case of a 40-year-old female patient clinically diagnosed with systemic scleroderma and lichen sclerosus involving the genital mucosa. Physical examination in conjunction with laboratory findings (elevated antinuclear, anti-Scl-70, anti-SSA antibodies and immunogram) induced the supposition of the coexistence of lichen sclerosus and systemic scleroderma, fact confirmed by pathological examination. Systemic therapy with corticosteroids, immunosuppressive and phlebotropic drugs, peripheral vasodilators and other tropic adjuvants and topically potent topical corticosteroids was initiated. The course was favorable under therapy, the hardened skin slightly regaining elasticity, relief of itching and disappearance of lichen sclerosus lesions. Our case reaffirms the uncommon association of these two disorders. The importance of history, physical and laboratory examinations in making a diagnosis of certainty in emphasized.

  2. AZF gene microdeletions: case series and literature review.

    Science.gov (United States)

    Gallego, A; Rogel, R; Luján, S; Plaza, B; Delgado, F; Boronat, F

    2014-12-01

    Aproximately 10% of patients with non-obstructive azoospermia and 5% with non-obstructive severe oligozoospermia carry AZF region microdeletions (AZoospermic Factor) in the Y chromosome. The aim of this study is to analize the clinical and pathological findings in this group of patients and compare them with the previous evidence. Retrospective study of 11 patients with diagnosis of azoospermia or oligozoospermia and the presence of AZFa, AZFb, AZFc microdeletions or any combination of them. Microdeletions of AZFc region were found in 45% of cases, AZFa in 33% and a 10% showed a deletion of the three regions (a,b and c). 91% of them demonstrated azoospermia with low testicular volume in 62,5% cases. Microdeletions of AZF regions are associated with azoospermia and a low expectation of sperm retrieval in testicular biopsy. On the other hand, they seem not related with significative modifications on the hormone profile. Copyright © 2014 AEU. Published by Elsevier Espana. All rights reserved.

  3. Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.

    Science.gov (United States)

    Chang, Xingzhi; Jin, Yiwen; Zhao, Haijuan; Huang, Qionghui; Wang, Jingmin; Yuan, Yun; Han, Ying; Qin, Jiong

    2013-03-01

    Central core disease is a rare inherited neuromuscular disorder caused by mutations in ryanodine receptor type 1 gene. The clinical phenotype of the disease is highly variable. We report a Chinese pedigree with central core disease confirmed by the gene sequencing. All 3 patients in the family presented with mild proximal limb weakness. The serum level of creatine kinase was normal, and electromyography suggested myogenic changes. The histologic analysis of muscle biopsy showed identical central core lesions in almost all of the muscle fibers in the index case. Exon 90-106 in the C-terminal domain of the ryanodine receptor type 1 gene was amplified using polymerase chain reaction. One heterozygous missense mutation G14678A (Arg4893Gln) in exon 102 was identified in all 3 patients. This is the first report of a familial case of central core disease confirmed by molecular study in mainland China.

  4. Disseminated cysticercosis: clinical spectrum, Toll-like receptor-4 gene polymorphisms and role of albendazole

    Science.gov (United States)

    Qavi, Abdul; Garg, Ravindra Kumar; Malhotra, Hardeep Singh; Jain, Amita; Kumar, Neeraj; Malhotra, Kiran Preet; Srivastava, Pradeep Kumar; Verma, Rajesh; Sharma, Praveen Kumar

    2016-01-01

    Abstract In this study, we describe clinical and imaging spectrum, and the natural course of patients with disseminated cysticercosis. How albendazole affects the course of disease has also been evaluated. We assessed the Toll-like receptor-4 gene polymorphisms, to know the reason for the apparently higher prevalence of disseminated cysticercosis in India. Sixty consecutive patients with disseminated cysticercosis were enrolled. Sixty age-and-sex-matched healthy controls were also enrolled for the purpose of genetic study. Twenty patients, who gave consent, were treated with albendazole along with corticosteroids. Forty patients did not give consent for antiparasitic therapy. Assessment for Toll-like receptor-4 gene polymorphisms (Asp299Gly and Thr399Ile genes) was done. Patients were followed for 6 months. We also performed a literature search of cases published in English language using PubMed electronic database and analyzed 56 cases thus available. There was an increased risk (6.63 fold and 4.61 fold) of disseminated cysticercosis in the presence of Asp299Gly and Thr399Ile polymorphisms in Toll-like receptor-4, respectively. The allelic frequency of Gly (11% vs. 3%, P = 0.024, odds ratio [OR] = 3.52) and Ile alleles (11% vs. 2%, P = 0.009, OR = 4.738) in disseminated cysticercosis was high. Albendazole resulted in complete disappearance of all cerebral lesions in 35% (7/20) patients and reduction in lesion load in remaining 65% (13/20) patients. No significant change in number of cysticercal lesion was noted in patients who did not receive albendazole. No major adverse reaction following antiparasitic treatment was noted. Three deaths were recorded in patients who did not receive antiparasitic treatment. Of the 56 cases reported in PubMed, 33 patients received antiparasitic treatment with follow-up data available for 31 patients. Most (24) of these patients received albendazole. A significant clinical and/or imaging improvements, on follow up, were observed in

  5. [Collaborative study on regulatory science for facilitating clinical development of gene therapy products for genetic diseases].

    Science.gov (United States)

    Uchida, Eriko; Igarashi, Yuka; Sato, Yoji

    2014-01-01

    Gene therapy products are expected as innovative medicinal products for intractable diseases such as life-threatening genetic diseases and cancer. Recently, clinical developments by pharmaceutical companies are accelerated in Europe and the United States, and the first gene therapy product in advanced countries was approved for marketing authorization by the European Commission in 2012. On the other hand, more than 40 clinical studies for gene therapy have been completed or ongoing in Japan, most of them are conducted as clinical researches by academic institutes, and few clinical trials have been conducted for approval of gene therapy products. In order to promote the development of gene therapy products, revision of the current guideline and/or preparation of concept paper to address the evaluation of the quality and safety of gene therapy products are necessary and desired to clearly show what data should be submitted before First-in-Human clinical trials of novel gene therapy products. We started collaborative study with academia and regulatory agency to promote regulatory science toward clinical development of gene therapy products for genetic diseases based on lentivirus and adeno-associated virus vectors; National Center for Child Health and Development (NCCHD), Nippon Medical School and PMDA have been joined in the task force. At first, we are preparing pre-draft of the revision of the current gene therapy guidelines in this project.

  6. [Clinical significance and distribution of BRCA genes mutation in sporadic high grade serous ovarian cancer].

    Science.gov (United States)

    Liu, W L; Wang, Z Z; Zhao, J Z; Hou, Y Y; Wu, X X; Li, W; Dong, B; Tong, T T; Guo, Y J

    2017-01-25

    Objective: To investigate the mutations of BRCA genes in sporadic high grade serous ovarian cancer (HGSOC) and study its clinical significance. Methods: Sixty-eight patients between January 2015 and January 2016 from the Affiliated Cancer Hospital of Zhengzhou University were collected who were based on pathological diagnosis of ovarian cancer and had no reported family history, and all patients firstly hospitalized were untreated in other hospitals before. (1) The BRCA genes were detected by next-generation sequencing (NGS) method. (2) The serum tumor markers included carcinoembryonic antigen (CEA), CA(125), CA(199), and human epididymis protein 4 (HE4) were detected by the chemiluminescence methods, and their correlation was analyzed by Pearson linear correlation. Descriptive statistics and comparisons were performed using two-tailed t-tests, Pearson's chi square test, Fisher's exact tests or logistic regression analysis as appropriate to research the clinicopathologic features associated with BRCA mutations, including age, International Federation of Gynecology and Obstetrics (FIGO) stage, platinum-based chemotherapy sensitivity, distant metastases, serum tumor markers (STM) . Results: (1) Fifteen cases (22%, 15/68) BRCA mutations were identified (BRCA1: 11 cases; BRCA2: 4 cases), and four novel mutations were observed. (2) The levels of CEA, CA(199), and HE4 were lower in BRCA mutations compared to that in control group, while no significant differences were found (P>0.05), but the level of CA(125) was much higher in BRCA mutation group than that in controls (t=-3.536, P=0.003). Further linear regression analysis found that there was a significant linear correlation between CA(125) and HE4 group (r=0.494, PBRCA(+) and BRCA(-) group (P>0.05), while significant differences were found in CA(125) and sensitivity to platinum-based chemotherapy between the patients with BRCA mutation and wild type (PBRCA mutations in sporadic HGSOC (P=0.007). Conclusion: The

  7. Examining an ethical dilemma: a case study in clinical practice.

    Science.gov (United States)

    Narrigan, Deborah

    2004-01-01

    When clients and health care providers differ in their understanding of what is right or wrong, an ethical dilemma may arise. Such dilemmas occur in everyday clinical practice. Health care providers have the professional responsibility to analyze these dilemmas. A clinical case study of an ethical dilemma that occurred in a cross-cultural context is examined. The language of the client and provider differed, and no interpreter service was available. Given these conditions, the provider's ethical dilemma was whether, and if so how, to give safe, satisfying care that respected the needs of a client with limited English proficiency. Measuring the morality of the provider's decisions and actions using Rawls' ethical theory of social justice finds deficits. A 10-step Bioethical Decision-Making Model by Thompson is used to demonstrate one method for analyzing the moral dimension of a clinical scenario focusing on the decisions and actions taken by a midwife. Scrutinizing ethically challenging clinical encounters will result in better understanding of the moral dimensions of practice.

  8. Case report medical eponyms: an applied clinical informatics opportunity.

    Science.gov (United States)

    Baskaran, L N Guptha Munugoor; Greco, P J; Kaelber, D C

    2012-01-01

    Medical eponyms are medical words derived from people's names. Eponyms, especially similar sounding eponyms, may be confusing to people trying to use them because the terms themselves do not contain physiologically descriptive words about the condition they refer to. Through the use of electronic health records (EHRs), embedded applied clinical informatics tools including synonyms and pick lists that include physiologically descriptive terms associated with any eponym appearing in the EHR can significantly enhance the correct use of medical eponyms. Here we describe a case example of two similar sounding medical eponyms--Wegener's disease and Wegner's disease-- which were confused in our EHR. We describe our solution to address this specific example and our suggestions and accomplishments developing more generalized approaches to dealing with medical eponyms in EHRs. Integrating brief physiologically descriptive terms with medical eponyms provides an applied clinical informatics opportunity to improve patient care.

  9. Photonuclear reactions with Zinc: A case for clinical linacs

    CERN Document Server

    Boztosun, I; Karakoç, M; Özmen, S F; Çeçen, Y; Çoban, A; Caner, T; Bayram, E; Saito, T R; Akdoğan, T; Bozkurt, V; Kuçuk, Y; Kaya, D; Harakeh, M N

    2015-01-01

    The use of bremsstrahlung photons produced by a linac to induce photonuclear reactions is wide spread. However, using a clinical linac to produce the photons is a new concept. We aimed to induce photonuclear reactions on zinc isotopes and measure the subsequent transition energies and half-lives. For this purpose, a bremsstrahlung photon beam of 18 MeV endpoint energy produced by the Philips SLI-25 linac has been used. The subsequent decay has been measured with a well-shielded single HPGe detector. The results obtained for transition energies are in good agreement with the literature data and in many cases surpass these in accuracy. For the half-lives, we are in agreement with the literature data, but do not achieve their precision. The obtained accuracy for the transition energies show what is achievable in an experiment such as ours. We demonstrate the usefulness and benefits of employing clinical linacs for nuclear physics experiments.

  10. Clinical Management of Two Root Resorption Cases in Endodontic Practice

    Directory of Open Access Journals (Sweden)

    Jozef Mincik

    2016-01-01

    Full Text Available Root resorption is a pathological process involving loss of hard dental tissues. It may occur as a consequence of dental trauma, orthodontic treatment, and bleaching, and occasionally it accompanies periodontal disease. Although the mechanism of resorption process is examined in detail, its etiology is not fully understood. Wide open apical foramen is more difficult to manage and the root canal may often overfill. In this report we present two cases of root resorption and describe means for its clinical management. We conclude that useful measure of a success or failure in managing root resorption is the persistence of the resorption process. It is a clear sign of an active ongoing inflammatory process and shows the clinical need for retreatment.

  11. Alopecia areata: Clinical presentation, diagnosis, and unusual cases.

    Science.gov (United States)

    Finner, Andreas M

    2011-01-01

    Alopecia areata (AA) is a nonscarring hair loss disorder with a 2% lifetime risk. Most patients are below 30 years old. Clinical types include patchy AA, AA reticularis, diffuse AA, AA ophiasis, AA sisiapho, and perinevoid AA. Besides scalp and body hair, the eyebrows, eyelashes, and nails can be affected. The disorder may be circumscribed, total (scalp hair loss), and universal (loss of all hairs). Atopy, autoimmune thyroid disease, and vitiligo are more commonly associated. The course of the disease is unpredictable. However, early, long-lasting, and severe cases have a less favorable prognosis. The clinical diagnosis is made by the aspect of hairless patches with a normal skin and preserved follicular ostia. Exclamations mark hairs and a positive pull test signal activity. Dermoscopy may reveal yellow dots. White hairs may be spared; initial regrowth may also be nonpigmented. The differential diagnosis includes trichotillomania, scarring alopecia, and other nonscarring hair loss disorders such as tinea capitis and syphilis.

  12. [Root resorption associated to orthodontic treatment: a clinical case].

    Science.gov (United States)

    Houb-Dine, Afaf; Rerhrhaye, Mariam; Ismaili, Zouheir; Rerhrhaye, Wiam

    2011-12-01

    Root resorption associated to orthodontic treatment is of multiple etiologies and a non intentional iatrogenic side effect which exists in almost all the orthodontic treatment. This clinical case of an apparently healthy patient illustrates the occurrence during the orthodontic treatment of a root resorption interesting the left central incisor, victims of previous traumatism and presenting a moderate periodontal attachment loss. The orthodontic treatment was carried out with light and continuous forces and a per-orthodontic periodontal maintenance in respect of periodontal requirements. As soon as the root resorption on the left central incisive was diagnosed, the active orthodontic treatment was interrupted in order to stabilize the lesion and a regular clinical and radiological monitoring was established.

  13. Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice

    Science.gov (United States)

    Árvai, Kristóf; Horváth, Péter; Balla, Bernadett; Tobiás, Bálint; Kató, Karina; Kirschner, Gyöngyi; Klujber, Valéria; Lakatos, Péter; Kósa, János P.

    2016-01-01

    Next generation sequencing (NGS) is a rapidly developing area in genetics. Utilizing this technology in the management of disorders with complex genetic background and not recurrent mutation hot spots can be extremely useful. In this study, we applied NGS, namely semiconductor sequencing to determine the most significant osteogenesis imperfecta-related genetic variants in the clinical practice. We selected genes coding collagen type I alpha-1 and-2 (COL1A1, COL1A2) which are responsible for more than 90% of all cases. CRTAP and LEPRE1/P3H1 genes involved in the background of the recessive forms with relatively high frequency (type VII and VIII) represent less than 10% of the disease. In our six patients (1–41 years), we identified 23 different variants. We found a total of 14 single nucleotide variants (SNV) in COL1A1 and COL1A2, 5 in CRTAP and 4 in LEPRE1. Two novel and two already well-established pathogenic SNVs have been identified. Among the newly recognized mutations, one results in an amino acid change and one of them is a stop codon. We have shown that a new full-scale cost-effective NGS method can be developed and utilized to supplement diagnostic process of osteogenesis imperfecta with molecular genetic data in clinical practice. PMID:27335225

  14. Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice.

    Science.gov (United States)

    Árvai, Kristóf; Horváth, Péter; Balla, Bernadett; Tobiás, Bálint; Kató, Karina; Kirschner, Gyöngyi; Klujber, Valéria; Lakatos, Péter; Kósa, János P

    2016-06-23

    Next generation sequencing (NGS) is a rapidly developing area in genetics. Utilizing this technology in the management of disorders with complex genetic background and not recurrent mutation hot spots can be extremely useful. In this study, we applied NGS, namely semiconductor sequencing to determine the most significant osteogenesis imperfecta-related genetic variants in the clinical practice. We selected genes coding collagen type I alpha-1 and-2 (COL1A1, COL1A2) which are responsible for more than 90% of all cases. CRTAP and LEPRE1/P3H1 genes involved in the background of the recessive forms with relatively high frequency (type VII and VIII) represent less than 10% of the disease. In our six patients (1-41 years), we identified 23 different variants. We found a total of 14 single nucleotide variants (SNV) in COL1A1 and COL1A2, 5 in CRTAP and 4 in LEPRE1. Two novel and two already well-established pathogenic SNVs have been identified. Among the newly recognized mutations, one results in an amino acid change and one of them is a stop codon. We have shown that a new full-scale cost-effective NGS method can be developed and utilized to supplement diagnostic process of osteogenesis imperfecta with molecular genetic data in clinical practice.

  15. [PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review].

    Science.gov (United States)

    Yang, Li; Arafat, Ahmed; Peng, Jing; Chen, Chen; Ma, Yuping; Yin, Fei

    2017-06-28

    Epilepsy with mental retardation limited to females (EFMR) is a syndrome characterized by early onset heat-sensitive epilepsy of infancy or early childhood and generally limited to females, which previously reported that the cadherin gene superfamily subtype protocadherin 19 (PCDH19) gene is its pathogenic gene. We retrospectively analyzed the clinical data for 2 cases of EFMR patients with PCDH19 mutation diagnosed by Department of Pediatric Neurology of Xiangya Hospital, Central South University in 2015. Literature on PubMed, OMIM and HGMD relevant to this syndrome was reviewed, and the clinical characteristics were summarized accordingly. The 2 cases are consistent with the typical clinical manifestations of EFMR caused by PCDH19 mutations. Their seizures are heat sensitive, with or without screaming, and expressed in various forms. Cognitive impairment or autism-like performance were often identified in these patients, hematuria metabolic diseases screening was normal, no abnormal MRI imaging of the head, and de novo PCDH19 gene mutations were found in their epilepsy gene chip sequencing. It is noteworthy that this disease is very similar to the clinical manifestations of the Dravet syndrome due to the mutations of the neurotype sodium channel α1 subunit SCN1A. Therefore, in female patients whose clinical manifestations resemble to Dravet syndrome but SCN1A gene test were negative, EFMR with PCDH19 mutation should be taken into consideration. Early PCDH19 gene testingis of great significance because it not only helps clinicians to understand and analyze the prognosis of this disease, but also offers genetic counseling to the parents.

  16. Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil

    Directory of Open Access Journals (Sweden)

    Victor Kosac

    2013-10-01

    Full Text Available Familial spinal muscular atrophy (FSMA associated with the vesicle-associated membrane protein-associated protein B (VAPB gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex, except two who exhibited brisk reflex. Two patients showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies revealed patterns of lower motor neuron disease, and genetic testing identified a P56S mutation of the VAPB gene. Although it is a rare motor neuron disease, FSMA with this mutation might be much more prevalent in Brazil than expected, and many cases may be undiagnosed. Genetic exams should be performed whenever it is suspected in Brazil.

  17. Clinical diagnosis analysis in 21 cases of spinal cord disease

    Institute of Scientific and Technical Information of China (English)

    ZHANG Hong

    2000-01-01

    21 cases of spinal cord disease were clinically analyzed of which 14 cases were male. 7 female, aged from 30 to 69, weraged 50.9. This group contained 2 cases of consciusness dysfunction. 2l of sensational dysfunction. 19 of morion dysrunction, 11 of aotonomic nerve dysrunction, 2 of, sexual dysfunction. 2 of Brown-Sequrd syndrome. llhad been chrmcally sympromatic for more than two months. the other were of acute for sub acute onset. The segments of the diseases were found mainly at cervical and thoracic ones. to which more attention should be pazd clincally. The incidences of intramedullary lesions were a bit more than that of extramedullary ones. Of the 11 extramendullary cases, 8 arised srorn verteoral body (72.7%), of which 6 cases arisen form the intervertebral dies, or 75%. On which emphasis should be laid clinically Foci in brain and spinal cord were found synchronically in 5 cases (23.8%). They were Wernick cerebral disease, metastetic cerebral tumor, cerebral infarction, polioencephalomyelitis. So possibility of brain disease should also be considerod when diagnosing spinai cord disease, especially in stenosis of cervical canal. Oppressed spinal cord was accodiated with cerebellopontine angle tumor. Disease in brain was negiected because of concermng spinal cord disease and cerehellopontine angie giant meningiona was discovered 5 yeas laaer. There are several methods to diagnose spinal cord disease, including X-rays photography, CSF test, CT, and MRI, etc. X-rays photography should be used for involved vertebral body in lateral and P-A position at first when to suspect spinal cord disease. It should be avoided that neglecting X-rays photography and using CT or MRIfirst. It should be noted when taking segments examination by CT or MRI, thut the actual vertebral body is usually located 7'- 14 segments below the spinal cord involved. Otherwise, misdiagnosis would be resulted. 4 c ases of oppressive spinal cord disease of this group were treated with operating

  18. [Management of onychocryptosis in primary care: A clinical case].

    Science.gov (United States)

    Zavala Aguilar, K; Gutiérrez Pineda, F; Bozalongo de Aragón, E

    2013-09-01

    Onychocryptosis (ingrown toenail) is a condition commonly seen in Primary Care clinics. It is uncomfortable and restrictive for patients and has a high incidence in males between second and third decades of life. It is of unknown origin, with a number of predisposing triggering factors being involved. Treatment depends on the stage of the ingrown nail and the procedures may range from conservative to minor surgery that can be performed by the Primary Care physician in the health centre. We report the case of a 25-year onychocryptosis that did not respond to conservative management, and was extracted with partial matricectomy of the nail.

  19. [Odontogenic keratocyst in dentigerous position. A clinical case].

    Science.gov (United States)

    Tamashiro-Higa, Tetsuji; Mosqueda-Taylor, Adalberto

    2005-01-01

    Cysts that may develop in the maxillo-mandibular region and adjacent tissues may be of odontogenic origin, non-odontogenic origin, pseudocysts, cysts associated with the maxillary sinus and those developed from the soft tissues. These may vary as to their histogenesis, frequency, behavior and treatment. This article presents the clinical case of an 18-year-old female patient with an initial radiographic diagnosis of dentigerous cyst, which after exploratory punction and surgical removal under general anesthesia yielded a final diagnosis of odontogenic keratocyst. The patient's evolution was satisfactory with a 2-year radiographic control, without evidence of recurrence.

  20. Surgical treatment for progressive prostate cancer: A clinical case

    Directory of Open Access Journals (Sweden)

    E. I. Veliev

    2014-01-01

    Full Text Available In spite of its existing standards, the treatment of patients with progressive prostate cancer (PC remains a matter of debate. Ensuring that the patients have good quality of life is also relevant. The paper describes a clinical case of a patient with progressive PC after hormone therapy, brachytherapy, salvage prostatectomy, enucleation of the testicular parenchyma, and salvage lymphadenectomy. A phallic prosthesis and an artificial urinary sphincter have been implanted to improve quality of life. The results of preoperative examination and the technological features of surgical interventions are given.

  1. Case reports and clinical guidelines for managing radix entomolaris

    Science.gov (United States)

    Thomas, Bejoy J.; Nishad, A.; Paulaian, Benin; Sam, Jonathan Emil

    2016-01-01

    Knowledge about the external and internal anatomy of the tooth is essential for successful dental practice. Anomalies in the tooth are often encountered which poses difficulties in dental treatments. As like any other tooth, mandibular first molars are also prone for anatomic malformations. One such anatomic variation is the presence of extra root distolingually. This distolingual root is called radix entomolaris (RE). The presence of an additional root can lead to difficulties during endodontic therapy. This article is a report of two cases describing the management of the first mandibular molars with an RE and clinical guidelines for its management. PMID:27829770

  2. Clinical and pathological implications of GSTM1 and GSTT1 gene deletions in sporadic breast cancer

    Directory of Open Access Journals (Sweden)

    Maria Salete Costa Gurgel

    2011-12-01

    Full Text Available There is a lack of consensus about the influence of GST M1/T1 gene deletions (DEL on sporadic breast cancer (SBC. To evaluate the occurrence of DEL in 177 SBC cases and in 169 controls, and compare clinical and biological characteristics. A lower frequency of GSTM1 DEL was observed in mulatto women, OR=0.48 (0.24–0.98. The risk of nuclear grade 3 tumors (GN3 was lower in patients with GSTT1 DEL, OR=0.37 (0.15–0.90. DEL of at least one gene (ALOG was associated with women who had not breastfed, OR=0.41 (0.19–0.88, and with negative hormone receptor, HR–, ORadj=2.25 (1.03–4.90. Both genes deleted (BGD was associated with non-classic invasive ductal carcinoma (NCDC, ORadj=12.09 (1.03–142.03. Mulatto women with SBC had a lower frequency of GSTM1 DEL, while tumors differentiated were related to GSTT1 DEL. HRtumors were related with DEL ALOG, and the BGD was associated with a greater risk of NCDC.

  3. [Chondrosarcoma of the upper jaw. Apropos of a clinical case].

    Science.gov (United States)

    Smatt, V

    1977-01-01

    Initially it has been a tendency to place chondrosarcoma in the general category of osteogenic sarcoma. Jaffe et Lichtenstein claimed that the concept of chondrosarcoma as a separate entity has a firm clinical and histological basis. Chondrosarcomas may arise in peripheral long and flat bones. The maxillary location is very rare, it represents about 0,7% of the whole body. 40 well documented instances are yet counted in the literature. Reporting a personnal case, the author proceeds to a comparative study between the three varieties of maxillary sarcomas, evokes the special histogenesis in this location, he reminds the interest of bone electrocoagulation as curative treatment, and discusses the difficulty in making a prognosis 3 years after surgery without local recurrence or metastasis in this case.

  4. [Paraquat poisoning: clinical and anatomopathologic aspects in 3 cases].

    Science.gov (United States)

    Pazos, M R; Reig, R; Sanz, P; Nogue, S; Boix, D; Palomar, M; Tenorio, L; Corbella, J

    1989-03-01

    3 cases of suicide due to ingestion of 150, 200 and 4 gr. of paraquat, respectively, are presented. Two of them were brothers and agricultural industrialists, the other one was a farmer. The first two cases died 16 and 10 hours after intake. The farmer died 21 days after ingestion. All of them had progressive hypoxemia and renal failure the two brothers had heart conduction system glycemia (23 mg/dl) a few hours after ingestion. The postmortem study showed edema, hemorrhage and congestion of the lungs, alveolitis, fibrosis and lobar atelectasia; renal tubular necrosis adrenal necrosis; colestasia; hepatic steatosis focal miocarditis. The clinical evolution, particularly short in the first two patients, is commented on, as well as the post-mortem findings, comparing them with those described in the literature. Finally, due to the high toxicity of this herbicide, we insist in prompt transport to herbicide, we insist in prompt transport to the hospital in order to apply early treatment.

  5. Apicetomy or dental implant: Report of a clinical case.

    Directory of Open Access Journals (Sweden)

    Enrique Fernández-Bodereau

    2012-07-01

    Full Text Available We report a clinical case of a patient who underwent apicectomy on an upper premolar, presumably by endodontic done improperly, and have cast a bolt where the extraction run the risk of tooth fracture. Failed such treatment, an implant is performed, placed immediately after extraction, in which bone filling with xenograft and guided bone regeneration with resorbable collagen membrane was done. From this we deduce that the phase diagnosed is of paramount importance. Two months after functional load of the implant is made with a cemented ceramic crown. One of the factors that influenced the positive outcome of this case, where immediately implants are placed to the tooth extraction is ultra microtextured surface of the used implant, besides being the bone table of these dental elements of thicker vestibular.

  6. Clinical Analysis of 21 Cases of Primary Breast Malignant Lymphoma

    Institute of Scientific and Technical Information of China (English)

    Liming Wang; Haizeng Zhang; Yongfu Shao

    2005-01-01

    OBJECTIVE To explore the clinico-pathological characteristics, diagnosis,treatment, and prognosis factors for primary breast malignant lymphoma (PBL).METHODS The clinical data from 21 cases of PBL were retrospectively analysed.RESULTS There were 19 females and 2 males with a median age of 37 years.All cases had diffuse non-Hodgkin lymphoma from B-cell lineage. The overall 5-year survival rate was 62.50% for the whole group and 81.82% for stage Ⅰ and Ⅱ diseases.CONCLUSION The prognosis of PBL is related to the stage and treatment modality. Operation combined with chemoradiotherapy is the best treatment method. Local resection should be the first surgical treatment.

  7. [Experience in thyroglossal duct pathology: clinical case series].

    Science.gov (United States)

    Cieri, Patricio; Udaquiola, Julia E; Calello, Santiago E; Libero, Daniel H

    2016-10-01

    The thyroglossal duct cyst pathology represents the second cause of bening cervical anomalies in childhood. Diagnosis is mainly clinical. Sistrunk (1920) proposed a surgical technique that is still considered the gold standard for definitive treatment of this condition. A retrospective study was made including patients who underwent surgery for thyroglossal duct cyst pathology in our department between June 2008 and August 2015. In this period, we performed 54 procedures in 45 patients (39 primary cases). Median age was 4.7 years; 14/39 patients (31.1%) had pre-operative infection. All patients were studied with neck ultrasound. A Sistrunk's procedure was performed in all cases. The global recurrence rate was 17.8% (8/45).

  8. Odontogenic calcificant cystic tumor: a report of two clinical cases.

    Science.gov (United States)

    Reyes, Daniel; Villanueva, Julio; Espinosa, Sebastián; Cornejo, Marco

    2007-03-01

    Odontogenic Calcificant Cystic Tumor (OCCT) is an infrequent injury. It arises from odontogenic epithelial rests present in the maxilla, jaw or gum. Gorlin and col. described the OCCT for first time as an own pathological entity in 1962. Clinically, the OCCT represents 1% of the odontogenic injuries. It is possible to be found from the first decade to the eighth decade. It affects in same proportion the maxilla and the jaw, being the most common in the dented zones, with greater incidence in the first molar area. Two case reports of OCCT in two different ages, both in female individuals, one at 5 years old and the other at 35 years old are presented. Enucleation of the tumor was the treatment chosen. The purpose of this article is to present a review of the literature related to these two cases of OCCT and its treatment, putting an emphasis on its aetiology, biological behaviour and treatment.

  9. Analysis of gene mutations and clinical features in elderly patients with melanoma

    Institute of Scientific and Technical Information of China (English)

    王轩

    2013-01-01

    Objective To investigate the gene mutation status in Chinese elderly patients with melanoma and to explore the correlation of gene mutation with clinical characteristics and prognosis.Methods Melanoma tissue samples from Chinese elderly patients were analyzed for gene mutations of KIT,BRAF and NRAS in genomic DNA by polymerase chain reaction (PCR) amplification and Sanger sequencing.The correlations of gene mutations with clinicopathologic features and prognosis were statistically

  10. Asynchronous Bilateral Renal Infarction and Thrombophilia With Associated Gene Mutations in a 43-Year-Old Man: A Case Report.

    Science.gov (United States)

    Zhou, Xu-Jie; Liu, Li-Jun; Chen, Min; Zhou, Fu-De

    2016-04-01

    Renal infarction (RI) is frequently misdiagnosed or diagnosed late because of its rarity and nonspecific clinical presentation, which may result in irreversible damage to the renal parenchyma or increase the risk of other embolic events affecting additional organs. Multiple causal mechanisms and cases of idiopathic RI have been reported, but the causal factors are not clear in most cases.Here, we report the case of a patient with heterochronic bilateral RI caused by thrombophilia. Although he had several risk factors for hypercoagulation disorders, two gene mutations-MTHFR 677 C>T and PLG 1858G>A-were identified by genome sequencing of the entire exome. The findings suggest the possibility of a synergistic relationship between the two gene mutations.Thus, screening for gene mutations may provide additional clues for clarifying the cause of RI and thrombophilia.

  11. [CLINICAL CASES-TREATED WITH TECHNOLOGY LIPID COLLOIDAL (TLC)].

    Science.gov (United States)

    Hinojosa Caballero, Dolores; Torres Subires, Antònia; Álvarez Rodríguez, Lorenzo Ramón; Garrigós Sancristóbal, Xènia; Pol Reyes, Maria Antònia; Espejo Arenas, Elena; Viturtia González, Montserrat; Delgado Ballesteros, Sara; Sans Masip, Cristina; Pascual-Malo, Isabel; Zaguirre Medina, Meritxell; Cuenda Macías, Maribel

    2016-04-01

    This study presents clinical cases collecting etiologies that are more frequent in the field of complex wounds. All require a specific approach, as well as the interdisciplinary participation of different members of the team. But in general, established local cure plans may be quite similar. Applies them technology lipid colloidal (TLC) which consists of the combination of particles of hydrocolloid (carboxymethylcellulose) with lipid components. Products with a technology designed for every moment of healing. Show our experience in the use of products with TLC in patients with ulcers of different etiologies. The following products depending on the case have been used to treat: UrgoTul Absorb Border, Urgoclean (rope or plate), UrgoStart, UrgoK2 and UrgoK2 LITE. These products were applied in patients presenting four different etiologies of ulcer: hypertensive, traumatic, venous and ischemic ulcer. The use of Urgoclean rope favored cleaning the bed ulceral and applied Urgoclean plate with reinforced alginate to control the abundant exudates, with coverage of UrgoTul ABsorb Border. Once clean beds pass UrgoStart and at all times UrgoK2 bandage, cases that required compressive therapy. Intolerance to that kind of compression applied to patients presenting bandage UrgoK2 LITE (which tolerated without problem) which significantly reduced edema, favoring the control of exudate. Patients with ulcer of long evolution, at the start were reluctant to the application of new technologies, but after the first cures and sensing a good evolution, we get their confidence and commitment to the resolution. Are displayed clinical cases of different etiologic and personal contexts that an integral and interdisciplinary approach together with the application of products with TLC, managed to solve the problem. The materials used have been satisfactory in all cases, with a direct involvement in the resolution of lesions which carries a long unresolved, and in any of them, even with a

  12. The clinical case report: a tool for hypothesis generation.

    Science.gov (United States)

    Sniderman, A D

    1996-10-01

    The clinical case report is generally limited to a description of unusual examples of the complications of disease or responses to therapy. However, it can also be used to present novel hypotheses which have been derived from individual cases. Two examples of this latter genre are presented and updated. These are Syndrome X and the stiff left atrial syndrome. In both instances, general and novel formulations were derived from single cases. With respect to Syndrome X, a hypothesis was generated that the chest pain and ST abnormalities in these patients represent excess activation of adenosine A1 receptors in the absence of myocardial ischemia. With respect to the stiff left atrial syndrome, recognition of the first case led to the recognition of the problem in many others. Now, a variant of the syndrome has been recognized in which mitral regurgitation is also present. In addition, the possibility that tricuspid annuloplasty may rescue patients dying of cardiac cachexia due to right heart failure caused by combined pressure and volume overload of the right ventricle is outlined.

  13. [Chronic progressive external ophthalmoplegia with mitochondrial anomalies. Clinical, histological, biochemical and genetic analysis (9 cases)].

    Science.gov (United States)

    Drouet, A

    1996-01-01

    We report the clinical signs and histological findings in nine patients with mitochondrial ocular myopathies. There were four males and five females. Of age ranging from 47 to 82 years. A more often asymetrical ptosis was in all cases of chronic progressive external ophtalmoplegia (CPEO), but muscle weakness in limbs was not usual. The prognosis in this group was good, but ubidecarenone (150 mg/d) used for two cases, did not improve ophtalmoplegia. The serum creatine kinase was normal in eight of nine cases and electromyography showed myopathic changes in three cases. Histoenzymatic analysis of the muscle biopsy and biochemical studies of mitochondria isolated from the muscle sample demonstrated mitochondrial myopathy associated with partial deficiency of complexes I and/or IV of the electron transfer chain. One of seven patients studied had single deletion by Southern blot analysis, in a heteroplasmic state and another an A-->G transition at position 3243 within the mitochondrial tRNA leu (UUR) gene. Chronic progressive external ophtalmoplegia, without large deletion, may have abnormality in other coding regions of mt DNA such as tRNA, rRNA or protein genes.

  14. Pharmacogenetics Informed Decision Making in Adolescent Psychiatric Treatment: A Clinical Case Report

    Directory of Open Access Journals (Sweden)

    Teri Smith

    2015-02-01

    Full Text Available Advances made in genetic testing and tools applied to pharmacogenetics are increasingly being used to inform clinicians in fields such as oncology, hematology, diabetes (endocrinology, cardiology and expanding into psychiatry by examining the influences of genetics on drug efficacy and metabolism. We present a clinical case example of an adolescent male with anxiety, attention deficit hyperactivity disorder (ADHD and autism spectrum disorder who did not tolerate numerous medications and dosages over several years in attempts to manage his symptoms. Pharmacogenetics testing was performed and DNA results on this individual elucidated the potential pitfalls in medication use because of specific pharmacodynamic and pharmacokinetic differences specifically involving polymorphisms of genes in the cytochrome p450 enzyme system. Future studies and reports are needed to further illustrate and determine the type of individualized medicine approach required to treat individuals based on their specific gene patterns. Growing evidence supports this biological approach for standard of care in psychiatry.

  15. Methodology of integration of a clinical data warehouse with a clinical information system: the HEGP case.

    Science.gov (United States)

    Zapletal, Eric; Rodon, Nicolas; Grabar, Natalia; Degoulet, Patrice

    2010-01-01

    Clinical Data Warehouses (CDW) can complement current Clinical Information Systems (CIS) with functions that are not easily implemented by traditional operational database systems. Here, we describe the design and deployment strategy used at the Pompidou University Hospital in southwest Paris. Four realms are described: technological realm, data realm, restitution realm, and administration realm. The corresponding UML use cases and the mapping rules from the shared integrated electronic health records to the five axes of the i2b2 CDW star model are presented. Priority is given to the anonymization and security principles used for the 1.2 million patient records currently stored in the CDW. Exploitation of a CDW by clinicians and investigators can facilitate clinical research, quality evaluations and outcome studies. These indirect benefits are among the reasons for the continuous use of an integrated CIS.

  16. C·A生物基因免疫重塑疗法治疗120例生殖器疱疹的临床观察%The Clinical Observation of C•A Biological Gene Immunotherapy for 120 Cases Patients With Genital Herpes

    Institute of Scientific and Technical Information of China (English)

    王利

    2015-01-01

    Objective To observe the efficacy of C•A biological gene immunotherapy for patients with genital herpe.Methods 240 cases of patients with recurrent genital herpe were randomly divided into two groups, treatment group (120 cases) and control group (120 cases), control group were took aciclovir tablets oral treatment, treatment group were treated by both aciclovir tablets and C•A biological gene immunotherapy. Then the improvement of clinical symptoms and cellular immune of the two groups were compared.Results After ifnished all the therapy, the mission success rate of treatment group was 100.00% which was significantly higher than control group by 79.65% (P<0.05). The levels of IFN-γ, IL-2 of treatment group were higher than control group, while the SIL-2R was lower than control group (P<0.05). 3, 6, 12 months after treatment, the recurrence rate of treatment group was all lower than control group (P<0.05). ConclusionC•A biological gene immunotherapy has the advantages of high cure rate and low recurrence rate for genital herpes through the regulation of immune system of organism.%目的:观察C·A生物基因免疫重塑疗法治疗生殖器疱疹的疗效。方法240例复发性生殖器疱疹患者随机分为两组,治疗组(120例)和对照组(120例),对照组口服阿昔洛韦片治疗,治疗组则在服用阿昔洛韦片的基础上加载C·A生物基因免疫重塑疗法治疗。观察患者临床症状及细胞免疫改善情况。结果治疗组成功率高达100.00%高于对照组的79.65%(P<0.05)。治疗后,治疗组IFN-γ、IL-2水平高于对照组,SIL-2R水平低于对照组(P<0.05)。跟踪随访结果显示,治疗组接受治疗后3、6、12个月复发率低于对照组(P<0.05)。结论 C·A生物基因免疫重塑疗法通过对机体免疫系统的调节来治疗生殖器疱疹,具有治愈率高、复发率低的优点。

  17. 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

    Science.gov (United States)

    Linhares, Natália Duarte; Freire, Maíra Cristina Menezes; Cardenas, Raony Guimarães Corrêa do Carmo Lisboa; Pena, Heloisa Barbosa; Lachlan, Katherine; Dallapiccola, Bruno; Bacino, Carlos; Delobel, Bruno; James, Paul; Thuresson, Ann-Charlotte; Annerén, Göran; Pena, Sérgio D J

    2016-01-01

    Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients.

  18. The Emerging Microbe Project: Developing Clinical Care Plans Based on Pathogen Identification and Clinical Case Studies.

    Science.gov (United States)

    O'Donnell, Lauren A; Perry, Michael W; Doup, Dane't R

    2015-12-01

    For many students in the health sciences, including doctor of pharmacy (PharmD) students, basic and clinical sciences often appear detached from each other. In the infectious disease field, PharmD students additionally struggle with mastering the diversity of microorganisms and the corresponding therapies. The objective of this study was to design an interdisciplinary project that integrates fundamental microbiology with clinical research and decision-making skills. The Emerging Microbe Project guided students through the identification of a microorganism via genetic sequence analysis. The unknown microbe provided the basis for a patient case that asked the student to design a therapeutic treatment strategy for an infected patient. Outside of lecture, students had two weeks to identify the pathogen using nucleotide sequences, compose a microbiology report on the pathogen, and recommend an appropriate therapeutic treatment plan for the corresponding clinical case. We hypothesized that the students would develop a better understanding of the interplay between basic microbiology and infectious disease clinical practice, and that they would gain confidence and skill in independently selecting appropriate antimicrobial therapies for a new disease state. The exercise was conducted with PharmD students in their second professional year of pharmacy school in a required infectious disease course. Here, we demonstrate that the Emerging Microbe Project significantly improved student learning through two assessment strategies (assignment grades and exam questions), and increased student confidence in clinical infectious disease practice. This exercise could be modified for other health sciences students or undergraduates depending upon the level of clinical focus required of the course.

  19. The Emerging Microbe Project: Developing Clinical Care Plans Based on Pathogen Identification and Clinical Case Studies

    Directory of Open Access Journals (Sweden)

    Lauren A. O'Donnell

    2015-08-01

    Full Text Available For many students in the health sciences, including doctor of pharmacy (PharmD students, basic and clinical sciences often appear detached from each other. In the infectious disease field, PharmD students additionally struggle with mastering the diversity of microorganisms and the corresponding therapies. The objective of this study was to design an interdisciplinary project that integrates fundamental microbiology with clinical research and decision-making skills. The Emerging Microbe Project guided students through the identification of a microorganism via genetic sequence analysis. The unknown microbe provided the basis for a patient case that asked the student to design a therapeutic treatment strategy for an infected patient. Outside of lecture, students had two weeks to identify the pathogen using nucleotide sequences, compose a microbiology report on the pathogen, and recommend an appropriate therapeutic treatment plan for the corresponding clinical case. We hypothesized that the students would develop a better understanding of the interplay between basic microbiology and infectious disease clinical practice, and that they would gain confidence and skill in independently selecting appropriate antimicrobial therapies for a new disease state. The exercise was conducted with PharmD students in their second professional year of pharmacy school in a required infectious disease course. Here, we demonstrate that the Emerging Microbe Project significantly improved student learning through two assessment strategies (assignment grades and exam questions, and increased student confidence in clinical infectious disease practice. This exercise could be modified for other health sciences students or undergraduates depending upon the level of clinical focus required of the course.

  20. Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

    Science.gov (United States)

    Tondo, Mireia; Calpena, Eduardo; Arriola, Gema; Sanz, Paloma; Martorell, Loreto; Ormazabal, Aida; Castejon, Esperanza; Palacin, Manuel; Ugarte, Magdalena; Espinos, Carmen; Perez, Belen; Perez-Dueñas, Belen; Pérez-Cerda, Celia; Artuch, Rafael

    2013-11-01

    Our aim was to report two new cases of hyperlysinemia type I describing the clinical, biochemical and molecular features of the disease and the outcome of lysine restriction. Two children presented with febrile seizures followed by developmental delay, clumsiness and epilepsy. At age 2 and 8 years a biochemical and genetic diagnosis of hyperlysinemia type I was confirmed and lysine-restricted diet was started in both cases. Three years after initiation of lysine restriction, case 1 had not suffered further seizures. In case 2, tremor and dysmetria improved, but fine motor clumsiness persisted. Mild cognitive impairment was present in both patients despite dietary treatment. Laboratory studies: Plasma, urine and cerebrospinal fluid amino acid concentrations were measured by ion exchange chromatography. Mutation analysis of the AASS gene was performed by directly sequencing the PCR products. The plasma lysine values were higher than 1200 μmol/L in both cases. Additionally, an increase in dibasic aminoaciduria was observed. Lysine restriction decreased plasma lysine values and nearly normalised dibasic aminoaciduria. Mutational screening of the AASS gene revealed that case 1 was a compound heterozygote for c.2662 + 1_2662 + 5delGTAAGinsTT and c.874A>G and that case 2 was a compound heterozygote for c.976_977delCA and c.1925C>G. In conclusion, we present two children with hyperlysinemia type I and neurological impairment in which implementation of lysine-restricted diet achieved a mild improvement of symptoms but did not reverse cognitive impairment. The partial decrease of lysine concentrations and the normalisation of urine excretion of dibasic amino acids after lysine restriction further reinforce the possibility of this therapeutic intervention, although further investigations seem necessary. © 2013.

  1. The Case Anatomical Knowledge Index (CAKI): A Novel Method Used to Assess Anatomy Content in Clinical Cases

    Science.gov (United States)

    Banda, Sekelani S.

    2009-01-01

    There are concerns in the literature that the use of case-based teaching of anatomy could be compromising the depth and scope of anatomy learned by students in a problem-based learning curriculum. Poor selection of clinical cases that are used as vehicles for teaching/learning anatomy may be the root problem because some clinical cases do not…

  2. Clinical human brucellosis in Malaysia: a case report

    Directory of Open Access Journals (Sweden)

    Tyagita Hartady

    2014-04-01

    Full Text Available Clinical human brucellosis is quite rare in Malaysia although seroconverters are relatively more. This report describes a case of clinical human brucellosis in Malaysia. This case involved a 29-year-old research assistant in a veterinary microbiology laboratory. She complained of intermittent fever, anorexia, profuse sweating, malaise, headache, normotensive (110/60 mm Hg, muscle pain, and arthralgia for 3 d. Blood tests against dengue and malaria were negative thus she was prescribed vitamin C, paracetamol and cough syrup for common flu. The complaints, however, persisted on and off for the next 1 month. She eventually developed anemia and hypotension (90/50 mm Hg and started to show reduced body weight. Abdominal palpations revealed hepatomegaly and splenomegaly with pain. Thus, brucellosis was suspected before the Rose-Bengal plate test was performed, which revealed the presence of high level of antibody against Brucella. The same test was repeated after 14 d and the results confirmed the presence of high antibody level against Brucella. Following serum agglutination test, a diagnosis of brucellosis was made and she was eventually prescribed rifampicine p.o. once a day combined with doxycycline p.o. twice a day for 6 consecutive weeks before she made a full recovery.

  3. A failure to reproduce the intermediate effect in clinical case recall

    NARCIS (Netherlands)

    M.W.J. van de Wiel (Margje); H.G. Schmidt (Henk); H.P.A. Boshuizen (Henny)

    1998-01-01

    textabstractPURPOSE: To investigate the differences between experts, intermediates, and novices in diagnosing and representing clinical cases under various time constraints. METHOD: Second-, fourth-, and sixth-year medical students, and internists studied, diagnosed, and recalled four clinical cases

  4. Gene therapy for cardiovascular disease: advances in vector development, targeting, and delivery for clinical translation.

    Science.gov (United States)

    Rincon, Melvin Y; VandenDriessche, Thierry; Chuah, Marinee K

    2015-10-01

    Gene therapy is a promising modality for the treatment of inherited and acquired cardiovascular diseases. The identification of the molecular pathways involved in the pathophysiology of heart failure and other associated cardiac diseases led to encouraging preclinical gene therapy studies in small and large animal models. However, the initial clinical results yielded only modest or no improvement in clinical endpoints. The presence of neutralizing antibodies and cellular immune responses directed against the viral vector and/or the gene-modified cells, the insufficient gene expression levels, and the limited gene transduction efficiencies accounted for the overall limited clinical improvements. Nevertheless, further improvements of the gene delivery technology and a better understanding of the underlying biology fostered renewed interest in gene therapy for heart failure. In particular, improved vectors based on emerging cardiotropic serotypes of the adeno-associated viral vector (AAV) are particularly well suited to coax expression of therapeutic genes in the heart. This led to new clinical trials based on the delivery of the sarcoplasmic reticulum Ca(2+)-ATPase protein (SERCA2a). Though the first clinical results were encouraging, a recent Phase IIb trial did not confirm the beneficial clinical outcomes that were initially reported. New approaches based on S100A1 and adenylate cyclase 6 are also being considered for clinical applications. Emerging paradigms based on the use of miRNA regulation or CRISPR/Cas9-based genome engineering open new therapeutic perspectives for treating cardiovascular diseases by gene therapy. Nevertheless, the continuous improvement of cardiac gene delivery is needed to allow the use of safer and more effective vector doses, ultimately bringing gene therapy for heart failure one step closer to reality.

  5. Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice

    Directory of Open Access Journals (Sweden)

    Donald R. Love

    2013-03-01

    Full Text Available The role of gene deletion and duplication in the aetiology of disease has become increasingly evident over the last decade. In addition to the classical deletion/duplication disorders diagnosed using molecular techniques, such as Duchenne Muscular Dystrophy and Charcot-Marie-Tooth Neuropathy Type 1A, the significance of partial or whole gene deletions in the pathogenesis of a large number single-gene disorders is becoming more apparent. A variety of dosage analysis methods are available to the diagnostic laboratory but the widespread application of many of these techniques is limited by the expense of the kits/reagents and restrictive targeting to a particular gene or portion of a gene. These limitations are particularly important in the context of a small diagnostic laboratory with modest sample throughput. We have developed a gene-targeted, custom-designed comparative genomic hybridisation (CGH array that allows twelve clinical samples to be interrogated simultaneously for exonic deletions/duplications within any gene (or panel of genes on the array. We report here on the use of the array in the analysis of a series of clinical samples processed by our laboratory over a twelve-month period. The array has proven itself to be robust, flexible and highly suited to the diagnostic environment.

  6. Unilateral Vogt-Koyanagi-Harada Disease: A Clinical Case Report

    Directory of Open Access Journals (Sweden)

    Arminda Neves

    2015-10-01

    Full Text Available Purpose: To report a case of a 20-year-old female with decreased visual acuity (VA in the left eye (LE. Methods: This is a retrospective and descriptive case report based on data from clinical records, patient observation and analysis of diagnostic tests. Results: A 20-year-old female presented with decreased VA in the LE for 3 days. Best-corrected visual acuity (BCVA was 20/20 in the right eye (RE and 20/40 in the LE. Pupillary function, intraocular pressure, results of external segment examinations and slit-lamp biomicroscopy were normal, bilaterally. RE fundoscopy was normal, and in the LE it revealed papillitis and posterior pole exudative retinal detachment. Optical coherence tomography (OCT confirmed the macular serous retinal detachment and showed thickening of the posterior choroid also revealed by orbital ultrasound and magnetic resonance imaging (MRI. Fluorescein angiography showed angiographic features typical of Vogt-Koyanagi-Harada (VKH disease: disseminated spotted choroidal hyperfluorescence and choroidal multifocal hypofluorescence, multifocal profuse leakage in the retina with pooling, serous retinal detachment and optic disc hyperfluorescence. Serological testing for the diagnosis of infectious pathologies was negative, and the review of systems was normal. The patient received systemic steroids and cyclosporine. LE BCVA improved up to 20/20 at 18 months after the diagnosis, with complete reabsorption of subretinal fluid and normal retinal and choroidal thickness by OCT. Conclusion: Despite the unilateral involvement, the clinical and angiographic features were typical of VKH disease, and ophthalmologists should be aware to recognize this rare clinical variant of the disease.

  7. Clinical and histopathological review of 229 cases of ranula.

    Science.gov (United States)

    Jia, Yulin; Zhao, Yifang; Chen, Xinming

    2011-10-01

    The purpose of this paper was to evaluate the relationship between the thrombosis and secretory duct dilation, lesion size, clinical types, nature (primary or recurrent) and duration of illness in the development of ranula. A total of 229 cases of sublingual gland cysts were treated with surgical resection from Jan. 1990 to Feb. 2010. The patients' data were investigated on histopathological findings, size of ranula, the clinical types, nature of ranula (primary or recurrent) and duration of illness. Sections from the paraffin-embedded blocks were HE-stained. CK expression was immunohistochemically detected. Among 229 cases the incidence of venous thrombosis was 58.52%. The incidence of venous thrombosis with or without duct dilation was 73.25% and 26.39% respectively, with a significant difference between the two groups (Pranulas with diameter larger or less than 3 cm was 72.22% and 46.28% (Pranula, plunging ranula and mixed ranula was 49.37%, 77.19% and 85.71% respectively, with a significant difference found between oral and plunging or mixed ranula (Pranula patients with duration of illness longer or less than 3 months was 69.77% and 51.75% (Pranulas was 51.85% and 64.85%, without a significant difference noted between them (P>0.05). It is concluded that the formation of venous thrombosis was related to the dilation of secretory duct, lesion size, clinical types, duration of lesion but formation of venous thrombosis was not related to the nature (primary or recurrent) of ranulas.

  8. Methylene blue for clinical anaphylaxis treatment: a case report

    Directory of Open Access Journals (Sweden)

    Janine Moreira Rodrigues

    Full Text Available CONTEXT AND OBJECTIVE: Nitric oxide has a pathophysiological role in modulating systemic changes associated with anaphylaxis. Nitric oxide synthase inhibitors may exacerbate bronchospasm in anaphylaxis and worsen clinical conditions, with limited roles in anaphylactic shock treatment. The aim here was to report an anaphylaxis case (not anaphylactic shock, reversed by methylene blue (MB, a guanylyl cyclase inhibitor. CASE REPORT: A 23-year-old female suddenly presented urticaria and pruritus, initially on her face and arms, then over her whole body. Oral antihistamine was administered initially, but without improvement in symptoms and signs until intravenous methylprednisolone 500 mg. Recurrence occurred after two hours, plus vomiting. Associated upper respiratory distress, pulmonary sibilance, laryngeal stridor and facial angioedema (including erythema and lip edema marked the evolution. At sites with severe pruritus, petechial lesions were observed. The clinical situation worsened, with dyspnea, tachypnea, peroral cyanosis, laryngeal edema with severe expiratory dyspnea and deepening unconsciousness. Conventional treatment was ineffective. Intubation and ventilatory support were then considered, because of severe hypoventilation. But, before doing that, based on our previous experience, 1.5 mg/kg (120 mg bolus of 4% MB was infused, followed by one hour of continuous infusion of another 120 mg diluted in dextrose 5% in water. Following the initial intravenous MB dose, the clinical situation reversed completely in less than 20 minutes, thereby avoiding tracheal intubation. CONCLUSION: Although the nitric oxide hypothesis for MB effectiveness discussed here remains unproven, our intention was to share our accumulated cohort experience, which strongly suggests MB is a lifesaving treatment for anaphylactic shock and/or anaphylaxis and other vasoplegic conditions.

  9. Clinical analysis on 12 cases of syphilitic optic neuritis

    Directory of Open Access Journals (Sweden)

    Lin LI

    2016-08-01

    Full Text Available Objective To explore the clinical characteristics and pathophysiological mechanism of syphilitic optic neuritis.  Methods The clinical signs and symptoms, laboratory tests, electrophysiological examinations, imaging features, treatment and prognosis of 12 cases with syphilitic optic neuritis admitted in our hospital from January 2014 to March 2016 were retrospectively analyzed.  Results The main clinical manifestation was vision loss in 12 patients (18 eyes, with acute or subacute onset, monocular attack or one after other. Degrees of visual loss differed among these patients. They also presented visual field defect and ocular fundus changes. Cerebrospinal fluid (CSF examination showed increased white blood cell and protein. Rapid plasma reagin (RPR assay and Treponema pallidum hemagglutination assay (TPHA in serum were positive. RPR assay/toluidine red unheated serum test (TRUST and TPHA in CSF were positive. Visual-evoked potential (VEP showed prolonged latency and declined amplitude of P100 wave. MRI revealed optic atrophy, abnormal signs in medial orbital part or overall length of optic nerve. The vision was improved after intravenous injection of aqueous penicillin and muscular injection of benzathine benzylpenicillin.  Conclusions Neurosyphilis is a rare cause of optic neuritis. Differential diagnosis should be paid attention on syphilitic optic neuritis from idiopathic optic neuritis and ischemic optic neuropathy. Serologic test and CSF examination will be helpful for a clear diagnosis. Besides, early diagnosis and standard therapy are essential for vision recovery. DOI: 10.3969/j.issn.1672-6731.2016.07.007

  10. Treatnebt if Addiction - Clinical and Judicial Perspectives: Two Case Reports

    Directory of Open Access Journals (Sweden)

    Sofia Fonseca

    2013-12-01

    Full Text Available The sporadic or chronic use of drugs and alcohol is directly related to conduct disorders and to the triggering of psychopathological states of sub-acute or chronic course. The excessive consumption of alcohol and excessive traffic/consumption of illicit drugs by individuals without mental illness or disability are actions of free will; they are therefore criminally responsible for their behaviour, even if they commit a crime during the state of intoxication, which the individual chose voluntarily to experience. In clinical practice, it is widely accepted that the treatment of these disorders is only effective when the patient accepts it voluntarily and that involuntary commitment (compulsive treatment is only carried out when the psychopathological state associated justifies the presuppositions of Article 12 of the Mental Health Law. However, if the compulsive treatment is of a penal character, mandated by a judge, the individual is obligated to accept treatment, independent of whether or not he suffers from mental illness. The authors present two case studies, one of drug addiction, the other of alcoholism, and discuss the clinical and judicial perspectives on the treatment of these clinical entities.

  11. Clinical analysis of 26 cases with cryptococcal meningitis

    Directory of Open Access Journals (Sweden)

    Wei-wei HU

    2014-08-01

    Full Text Available Objective To study the clinical features of cryptococcal meningitis (CM and summarize its clinical manifestations, laboratory data, differential diagnosis and treatment, so as to discuss the treatment progress of CM.  Methods Clinical data of 26 cases with CM were retrospectively analyzed, and the treatment experiences were summarized.  Results All patients had headache and fever, and were positive for cerebrospinal fluid (CSF latex agglutination test. Twenty-one patients' CSF smear were found Cryptococcus neoformans. Almost 76.92% (20/26 of patients were cured or became better after receiving combined treatment of amphotericin B, flucytosine and fluconazole. The symptoms and signs of 4 patients who received combined treatment of amphotericin B and voriconazole were greatly improved.  Conclusions CM can prone to be misdiagnosed at early stage. CSF smear and fungi culture are beneficial to the diagnosis. Latex agglutination test is a quick and easy examination to reduce the misdiagnosis rate of CM. The combination of amphotericin B, flucytosine and fluconazole is effective for the treatment of CM. doi: 10.3969/j.issn.1672-6731.2014.08.009

  12. Polyarticular lipoma arborescens--a clinical and aesthetical case.

    Science.gov (United States)

    Silva, Lígia; Terroso, Georgina; Sampaio, Luzia; Monteiro, Eurico; Pimenta, Sofia; Pinto, Fernanda; Pinto, José A; Ventura, Francisco S

    2013-06-01

    Lipoma arborescens is a benign tumor, but it may be a reactive process to other disorders, and its clinical, analytical, radiological and ultrasound presentation may be redundant to any synovial tumor. Despite the characteristic feature on magnetic resonance imaging (MRI), the correct differential diagnosis in atypical presentation, and the need for timely removal of the lesion to prevent joint damage, forces, ultimately, to invasive procedures. The clinical case reported here, fourth described in English language publications on the polyarticular form, also presented other specificities related to one of the swellings, in the knee. Because of its atypical location in the popliteal fossa, recurrent episodes of joint effusion, personal history of knee trauma, pulmonary tuberculosis, and family history of rheumatoid arthritis required particular attention. This process was hampered by the refusal of knee (and ankle) surgery by the patient. He accepted surgical removal of the swellings of the wrists, for aesthetical reasons, with pathologic confirmation of the diagnosis, and clinical success in that location. MRI of the knee showed the typical image of lipoma arborescens, but also other changes that compromise the prognosis.

  13. Clinical analysis of 20 cases of pneumatosis cystoides intestinalis

    Directory of Open Access Journals (Sweden)

    Rui TONG

    2016-03-01

    Full Text Available Objective  To review the experiences of diagnosis and treatment of pneumatosis cystoides intestinalis (PCI, and study the clinical characteristics of the disease in order to improve the diagnosis and treatment. Methods  Clinical data from 20 patients with endoscopically confirmed PCI were retrospectively analyzed. They were admitted to the Chinese PLA General Hospital from June 1995 to June 2015. Results  Among the patients 16 of them were male,and the other four were female. The main clinical manifestations were abdominal distention, diarrhea, abdominal pain and mucous bloody stool. The diagnosis relied mainly on colonoscopy and pathological examination. Laparoscopy assisted colorectal cancer resection was performed in 1 patient, laparostomy and repair of sigmoid colon perforation in 1, endoscopic treatment in 5 cases, drug administration and hyperbaric oxygen therapy in 2, drug treatment alone in 7, and no treatment in 4. Conclusions  The final diagnosis depends on endoscopic findings. No treatment is recommended to patients with no symptoms. The management of patients with PCI includes antibiotics, oxygen therapy, endoscopic therapy, surgery, and appropriate therapy related to the underlying cause of PCI. The prognosis is good. DOI: 10.11855/j.issn.0577-7402.2016.02.09

  14. Therapeutic strategies in male breast cancer: clinical implications of chromosome 17 gene alterations and molecular subtypes.

    Science.gov (United States)

    Schildhaus, Hans-Ulrich; Schroeder, Lars; Merkelbach-Bruse, Sabine; Binot, Elke; Büttner, Reinhard; Kuhn, Walther; Rudlowski, Christian

    2013-12-01

    Male breast cancer (MBC) is a rare disease. To date, therapy is mainly based on studies and clinical experiences with breast cancer in women. Only little is known about molecular typing of MBC, particularly with regard to potential biological predictors for adjuvant therapy. In female breast cancer tumors with chromosome 17 centromere (CEP17) duplication, HER2 and/or Topoisomerase II alpha (Topo II-α) gene alterations have been suggested to be associated with poor prognosis and increased sensitivity to anthracycline-containing regimens. In a well characterized cohort of 96 primary invasive MBC, we studied CEP17, HER2 and Topo II-α alterations by fluorescence in-situ hybridization (FISH), and expression of hormone receptors (HR), HER2 and Ki67 by immunohistochemistry to define molecular subtypes. Tumor characteristics and follow-up data were available and correlated with molecular findings. HER2 amplification and Topo II-α amplification/deletion were exceptionally rare in MBC (6.3% and 3.1%, respectively). CEP17 polysomy were found in 9.4% of tumors. HER2, Topo II-α and CEP17 gene alterations were not correlated to patients outcome. 96.9% of our cases were HR positive. Triple negative tumors were found in only 3.1% of the cases. In nodal negative tumors luminal A subtypes were significantly associated with better overall survival. Our results provide evidence for a predominant male breast cancer phenotype, characterized by HR expression and a lack of HER2/Topo II-α alterations and CEP17 duplicates. Therefore, the impact of anthracycline sensitivity linked to HER2/Topo II-α alterations as found in female breast cancer has low clinical significance for this specific male breast cancer phenotype. Copyright © 2013 Elsevier Ltd. All rights reserved.

  15. Informed Conditioning on Clinical Covariates Increases Power in Case-Control Association Studies

    Science.gov (United States)

    Zaitlen, Noah; Lindström, Sara; Pasaniuc, Bogdan; Cornelis, Marilyn; Genovese, Giulio; Pollack, Samuela; Barton, Anne; Bickeböller, Heike; Bowden, Donald W.; Eyre, Steve; Freedman, Barry I.; Friedman, David J.; Field, John K.; Groop, Leif; Haugen, Aage; Heinrich, Joachim; Henderson, Brian E.; Hicks, Pamela J.; Hocking, Lynne J.; Kolonel, Laurence N.; Landi, Maria Teresa; Langefeld, Carl D.; Le Marchand, Loic; Meister, Michael; Morgan, Ann W.; Raji, Olaide Y.; Risch, Angela; Rosenberger, Albert; Scherf, David; Steer, Sophia; Walshaw, Martin; Waters, Kevin M.; Wilson, Anthony G.; Wordsworth, Paul; Zienolddiny, Shanbeh; Tchetgen, Eric Tchetgen; Haiman, Christopher; Hunter, David J.; Plenge, Robert M.; Worthington, Jane; Christiani, David C.; Schaumberg, Debra A.; Chasman, Daniel I.; Altshuler, David; Voight, Benjamin; Kraft, Peter; Patterson, Nick; Price, Alkes L.

    2012-01-01

    Genetic case-control association studies often include data on clinical covariates, such as body mass index (BMI), smoking status, or age, that may modify the underlying genetic risk of case or control samples. For example, in type 2 diabetes, odds ratios for established variants estimated from low–BMI cases are larger than those estimated from high–BMI cases. An unanswered question is how to use this information to maximize statistical power in case-control studies that ascertain individuals on the basis of phenotype (case-control ascertainment) or phenotype and clinical covariates (case-control-covariate ascertainment). While current approaches improve power in studies with random ascertainment, they often lose power under case-control ascertainment and fail to capture available power increases under case-control-covariate ascertainment. We show that an informed conditioning approach, based on the liability threshold model with parameters informed by external epidemiological information, fully accounts for disease prevalence and non-random ascertainment of phenotype as well as covariates and provides a substantial increase in power while maintaining a properly controlled false-positive rate. Our method outperforms standard case-control association tests with or without covariates, tests of gene x covariate interaction, and previously proposed tests for dealing with covariates in ascertained data, with especially large improvements in the case of case-control-covariate ascertainment. We investigate empirical case-control studies of type 2 diabetes, prostate cancer, lung cancer, breast cancer, rheumatoid arthritis, age-related macular degeneration, and end-stage kidney disease over a total of 89,726 samples. In these datasets, informed conditioning outperforms logistic regression for 115 of the 157 known associated variants investigated (P-value = 1×10−9). The improvement varied across diseases with a 16% median increase in χ2 test statistics and a

  16. Informed conditioning on clinical covariates increases power in case-control association studies.

    Directory of Open Access Journals (Sweden)

    Noah Zaitlen

    Full Text Available Genetic case-control association studies often include data on clinical covariates, such as body mass index (BMI, smoking status, or age, that may modify the underlying genetic risk of case or control samples. For example, in type 2 diabetes, odds ratios for established variants estimated from low-BMI cases are larger than those estimated from high-BMI cases. An unanswered question is how to use this information to maximize statistical power in case-control studies that ascertain individuals on the basis of phenotype (case-control ascertainment or phenotype and clinical covariates (case-control-covariate ascertainment. While current approaches improve power in studies with random ascertainment, they often lose power under case-control ascertainment and fail to capture available power increases under case-control-covariate ascertainment. We show that an informed conditioning approach, based on the liability threshold model with parameters informed by external epidemiological information, fully accounts for disease prevalence and non-random ascertainment of phenotype as well as covariates and provides a substantial increase in power while maintaining a properly controlled false-positive rate. Our method outperforms standard case-control association tests with or without covariates, tests of gene x covariate interaction, and previously proposed tests for dealing with covariates in ascertained data, with especially large improvements in the case of case-control-covariate ascertainment. We investigate empirical case-control studies of type 2 diabetes, prostate cancer, lung cancer, breast cancer, rheumatoid arthritis, age-related macular degeneration, and end-stage kidney disease over a total of 89,726 samples. In these datasets, informed conditioning outperforms logistic regression for 115 of the 157 known associated variants investigated (P-value = 1 × 10(-9. The improvement varied across diseases with a 16% median increase in χ(2 test statistics

  17. Proposed clinical case definition for cytomegalovirus-immune recovery retinitis.

    Science.gov (United States)

    Ruiz-Cruz, Matilde; Alvarado-de la Barrera, Claudia; Ablanedo-Terrazas, Yuria; Reyes-Terán, Gustavo

    2014-07-15

    Cytomegalovirus (CMV) retinitis has been extensively described in patients with advanced or late human immunodeficiency virus (HIV) disease under ineffective treatment of opportunistic infection and antiretroviral therapy (ART) failure. However, there is limited information about patients who develop active cytomegalovirus retinitis as an immune reconstitution inflammatory syndrome (IRIS) after successful initiation of ART. Therefore, a case definition of cytomegalovirus-immune recovery retinitis (CMV-IRR) is proposed here. We reviewed medical records of 116 HIV-infected patients with CMV retinitis attending our institution during January 2003-June 2012. We retrospectively studied HIV-infected patients who had CMV retinitis on ART initiation or during the subsequent 6 months. Clinical and immunological characteristics of patients with active CMV retinitis were described. Of the 75 patients under successful ART included in the study, 20 had improvement of CMV retinitis. The remaining 55 patients experienced CMV-IRR; 35 of those developed CMV-IRR after ART initiation (unmasking CMV-IRR) and 20 experienced paradoxical clinical worsening of retinitis (paradoxical CMV-IRR). Nineteen patients with CMV-IRR had a CD4 count of ≥50 cells/µL. Six patients with CMV-IRR subsequently developed immune recovery uveitis. There is no case definition for CMV-IRR, although this condition is likely to occur after successful initiation of ART, even in patients with high CD4 T-cell counts. By consequence, we propose the case definitions for paradoxical and unmasking CMV-IRR. We recommend close follow-up of HIV-infected patients following ART initiation. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  18. Gene x environment interactions as dynamical systems: clinical implications

    National Research Council Canada - National Science Library

    Sarah S. Knox

    2015-01-01

    The etiology and progression of the chronic diseases that account for the highest rates of mortality in the US, namely, cardiovascular diseases and cancers, involve complex gene x environment interactions...

  19. Diversity of the clinical presentation of the MMR gene biallelic mutations.

    Science.gov (United States)

    Bougeard, Gaëlle; Olivier-Faivre, Laurence; Baert-Desurmont, Stéphanie; Tinat, Julie; Martin, Cosette; Bouvignies, Emilie; Vasseur, Stéphanie; Huet, Frédéric; Couillault, Gérard; Vabres, Pierre; Le Pessot, Florence; Chapusot, Caroline; Malka, David; Bressac-de Paillerets, Brigitte; Tosi, Mario; Frebourg, Thierry

    2014-03-01

    Constitutional mismatch repair-deficiency, due to biallelic mutations of MMR genes, results in a tumour spectrum characterized by leukaemias, lymphomas, brain tumours and adenocarcinomas of the gastro-intestinal tract, occurring mostly in childhood. We report here two families illustrating the phenotypic diversity associated with biallelic MMR mutations. In the first family, two siblings developed six malignancies including glioblastoma, lymphoblastic T cell lymphoma, rectal and small bowel adenocarcinoma with onset as early as 6 years of age. We showed that this dramatic clinical presentation was due to the presence of two complex genomic PMS2 deletions in each patient predicted to result into complete PMS2 inactivation. In the second family, the index case presented with an early form of Lynch syndrome with colorectal adenocarcinomas at ages 17 and 20 years, and urinary tract tumours at the age of 25 years. We identified in this patient two MSH6 mutations corresponding to a frameshift deletion and an in frame deletion. The latter was not predicted to result into complete inactivation of MSH6. These reports show that the clinical expression of biallelic MMR mutations depends on the biological impact of the second MMR mutation and that, in clinical practice, the presence of a second MMR mutation located in trans should also be considered in patients suspected to present a Lynch syndrome with an unusual early-onset of tumours.

  20. Chondroblastoma: A clinical and radiological study of 104 cases

    Energy Technology Data Exchange (ETDEWEB)

    Bloem, J.L.; Mulder, J.D.

    1985-06-01

    The clinical and radiographic findings in 104 patients with chondroblastoma are presented. Pain was an almost constant presenting complaint, often accompanied in the case of para-articular lesions by impaired function of an adjacent joint. The majority (80%) were in long bones with a mean age of presentation of 16 years. The characteristic radiological image of these lesions was an eccentric radiolucency, having a sharply defined sclerotic margin and containing areas of calcification in approximately a third of cases. They were always related to a growth plate. Nearly half were confined to the affected epiphysis or apophysis itself, but most of the remainder had traversed the growth plate to involve also the adjacent metaphysis. The bones around the knee and the proximal ends of the humerus and femur were the sites of predilection. A minority (20%) affected flat bones and short tubular bones of the hand and foot, with a peculiar affinity for the calcaneus and talus. The mean age of presentation of these was 28 years. The radiological pattern was similar, except for a greater tendency to expand the affected bone. Complications included the formation of a secondary aneurysmal bone cyst in 16 cases (10 of them in long bones), one malignant chondroblastoma, and one fibrosarcoma developing after radiation of the original chondroblastoma.

  1. Clinical observations of odontomas in Japanese children: 39 cases including one recurrent case.

    Science.gov (United States)

    Tomizawa, M; Otsuka, Y; Noda, T

    2005-01-01

    Retrospective investigations of odontomas in Japanese children and one recurrent case were carried out. Thirty-nine cases of odontoma in 38 children were treated in the Paediatric Dentistry Clinic of Niigata University Dental Hospital between September 1979 and December 2002. The patients consisted of 23 males and 15 females and their ages ranged from 1 year 2 months to 14 years old. The chief complaints were delayed tooth eruption in 19 cases (five: primary teeth, 14: permanent teeth), retention of primary teeth in 11, incidentally found on the radiographic examination in eight cases, and swelling of the jaw in one case. Thirty-four cases (87%) were associated with tooth eruption disturbances. The most frequently affected region was the maxillary anterior region. Treatment consisted of surgical removal of odontomas in all cases, after which if the impacted teeth did not erupt, exposure of the crown and/or orthodontic traction was performed. Pathological diagnoses were compound odontoma in 30 cases, complex odontoma (n = 7), and compound and complex odontoma (n = 2). A retrospective study of the radiographs revealed the developing process of odontomas in four cases and odontoma disturbed tooth eruption since the early uncalcified developing stage. A recurrent case was a boy aged 6 years 5 months in whom the first surgical removal of odontoma was performed at the age of 1 year 8 months. Recurrence of an odontoma is very rare, but in very young children odontomas are in the early developing stages, containing uncalcified portions, so it is important to perform periodical observations until the succedaneous teeth erupt.

  2. Comparative evaluation of PCR amplification of RLEP, 16S rRNA, rpoT and Sod A gene targets for detection of M. leprae DNA from clinical and environmental samples

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    Ravindra P Turankar

    2015-01-01

    Conclusion: Amongst all the gene targets used in this study, PCR positivity using RLEP gene target was the highest in all the clinical and environmental samples. Further, the RLEP gene target was able to detect 53% of blood samples as positive in BI-negative leprosy cases indicating its future standardization and use for diagnostic purposes.

  3. Safety and Effects of the Vector for the Leber Hereditary Optic Neuropathy Gene Therapy Clinical Trial

    Science.gov (United States)

    Koilkonda, Rajeshwari D.; Yu, Hong; Chou, Tsung-Han; Feuer, William J.; Ruggeri, Marco; Porciatti, Vittorio; Tse, David; Hauswirth, William W.; Chiodo, Vince; Boye, Sanford L.; Lewin, Alfred S.; Neuringer, Martha; Renner, Lauren; Guy, John

    2014-01-01

    IMPORTANCE We developed a novel strategy for treatment of Leber hereditary optic neuropathy (LHON) caused by a mutation in the nicotinamide adenine dinucleotide dehydrogenase subunit IV (ND4) mitochondrial gene. OBJECTIVE To demonstrate the safety and effects of the gene therapy vector to be used in a proposed gene therapy clinical trial. DESIGN AND SETTING In a series of laboratory experiments, we modified the mitochondrial ND4 subunit of complex I in the nuclear genetic code for import into mitochondria. The protein was targeted into the organelle by agency of a targeting sequence (allotopic expression). The gene was packaged into adeno-associated viral vectors and then vitreally injected into rodent, nonhuman primate, and ex vivo human eyes that underwent testing for expression and integration by immunohistochemical analysis and blue native polyacrylamide gel electrophoresis. During serial follow-up, the animal eyes underwent fundus photography, optical coherence tomography, and multifocal or pattern electroretinography. We tested for rescue of visual loss in rodent eyes also injected with a mutant G11778A ND4 homologue responsible for most cases of LHON. EXPOSURE Ocular infection with recombinant adeno-associated viral vectors containing a wild-type allotopic human ND4 gene. MAIN OUTCOMES AND MEASURES Expression of human ND4 and rescue of optic neuropathy induced by mutant human ND4. RESULTS We found human ND4 expressed in almost all mouse retinal ganglion cells by 1 week after injection and ND4 integrated into the mouse complex I. In rodent eyes also injected with a mutant allotopic ND4, wild-type allotopic ND4 prevented defective adenosine triphosphate synthesis, suppressed visual loss, reduced apoptosis of retinal ganglion cells, and prevented demise of axons in the optic nerve. Injection of ND4 in the ex vivo human eye resulted in expression in most retinal ganglion cells. Primates undergoing vitreal injection with the ND4 test article and followed up for 3

  4. Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial.

    Science.gov (United States)

    Koilkonda, Rajeshwari D; Yu, Hong; Chou, Tsung-Han; Feuer, William J; Ruggeri, Marco; Porciatti, Vittorio; Tse, David; Hauswirth, William W; Chiodo, Vince; Boye, Sanford L; Lewin, Alfred S; Neuringer, Martha; Renner, Lauren; Guy, John

    2014-04-01

    IMPORTANCE We developed a novel strategy for treatment of Leber hereditary optic neuropathy (LHON) caused by a mutation in the nicotinamide adenine dinucleotide dehydrogenase subunit IV (ND4) mitochondrial gene. OBJECTIVE To demonstrate the safety and effects of the gene therapy vector to be used in a proposed gene therapy clinical trial. DESIGN AND SETTING In a series of laboratory experiments, we modified the mitochondrial ND4 subunit of complex I in the nuclear genetic code for import into mitochondria. The protein was targeted into the organelle by agency of a targeting sequence (allotopic expression). The gene was packaged into adeno-associated viral vectors and then vitreally injected into rodent, nonhuman primate, and ex vivo human eyes that underwent testing for expression and integration by immunohistochemical analysis and blue native polyacrylamide gel electrophoresis. During serial follow-up, the animal eyes underwent fundus photography, optical coherence tomography, and multifocal or pattern electroretinography. We tested for rescue of visual loss in rodent eyes also injected with a mutant G11778A ND4 homologue responsible for most cases of LHON. EXPOSURE Ocular infection with recombinant adeno-associated viral vectors containing a wild-type allotopic human ND4 gene. MAIN OUTCOMES AND MEASURES Expression of human ND4 and rescue of optic neuropathy induced by mutant human ND4. RESULTS We found human ND4 expressed in almost all mouse retinal ganglion cells by 1 week after injection and ND4 integrated into the mouse complex I. In rodent eyes also injected with a mutant allotopic ND4, wild-type allotopic ND4 prevented defective adenosine triphosphate synthesis, suppressed visual loss, reduced apoptosis of retinal ganglion cells, and prevented demise of axons in the optic nerve. Injection of ND4 in the ex vivo human eye resulted in expression in most retinal ganglion cells. Primates undergoing vitreal injection with the ND4 test article and followed up for 3

  5. Strategies used in the clinical trials of gene therapy for cancer.

    Science.gov (United States)

    Ajith, Thekkuttuparambil Ananthanarayanan

    2015-01-01

    Advances in understanding and manipulating genes have set the stage for scientists to alter a person's genetic material to prevent or treat diseases. Over the past decade, somatic gene therapy has been increasingly applied in clinical trials where the genetic material (DNA and RNA) introduced into a person's cell. Mutation and inactivation of the tumor suppressor genes are the unified concept of the development of tumor in humans. Therefore, researchers have discovered potential of gene therapies in the treatment of cancer. Among the clinical trials of gene therapy conducted so far, approximately 66% were for the treatment of cancer which includes cancer of prostate, head and neck, kidneys, lungs, breast and skin. Introducing a wild type p53 gene, enhancing the immune system to protect against the cancer cells, enhancing the apoptosis of cancer cells and inhibiting the process of angiogenesis in the tumor are some of the clinical trials that are achieved through the gene therapy. Broad spectrum of delivery constructs, including viral vectors, liposomes, cationic polymers and dendrimers, cell-penetrating peptides, semiconductor quantum dots, and gold and magnetic nanoparticles have been investigated. A well designed vector is the most forward approach to increase the safety of gene therapy. Though, Gendicine and Oncorine have been marketed, gene therapy is still in its infancy stages in cancer research. More experimental and clinical trials using well-designed and effective doses of vectors are needed to ensure the therapeutic efficacy of gene therapy for its clinical use against a wide variety of cancers. This review article discuses about the various strategies used in clinical trials of gene therapy for cancer.

  6. Clinical Features and Genetic Analysis of Tuberous Sclerosis Complex in a Chinese Family Caused by c.2677-2678del Mutation on TSC2 Gene

    Institute of Scientific and Technical Information of China (English)

    KE Lai-shun; JIANG Hua; QU Xiu-xiu; ZHENG De-quan; WU Xin-yu; LU Wu-sheng

    2016-01-01

    The clinical data of patients from a Chinese family with tuberous sclerosis complex (TSC) were collected and the gene mutation type of TSC2 of proband in pedigree one was determined by polymerase chain reaction (PCR) and direct genes sequencing. There were 2 cases with TSC in the family, both of whom had facial angioifbromas, one case with ungual ifbromas, the other with mental retardation. The MRI and CT showed multiple intracranial nodules together. What’s more, gene mutation analysis of TSC2 demonstrated the c.2677-2678del mutation in both and the genetic manner deduced with autosomal dominant inheritance.

  7. Clinical Description of Metastatic Cutaneous Hemangiosarcoma (HSA in a Greyhound Dog: Clinical Case Study

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    Romy Marie Weinborn Astudillo

    2015-09-01

    Full Text Available Hemangiosarcoma (HSA is a type of cancer that has different clinical presentations and therefore different effects, since, depending on each case, different treatment options will exist. While in the case of cutaneous HSA the first line of treatment is always surgical removal of the tumor, metastatic foci should be sought and then perform chemotherapy, despite them having a low metastatic potential. Moreover, the low survival that exists in this type of cancer is a factor that should be communicated to those responsible for the pets, so that, with all available information, they can make a free and informed choice about the treatment they want for their pet, considering the financial commitment, survival time and quality of life associated with chemotherapy. This article describes the clinical case of a female greyhound dog of eight years of age that was brought to consultation for a skin tumor on the right hind limb in the distal tibia. She was diagnosed with noninvasive cutaneous HSA through histopathology, reason why the owners chose not to do the chemotherapy; however, 10 months later she presented recurrent skin lesions and a popliteal lymph node corresponding to hemangiosarcoma and hemangioma respectively, and three weeks later the patient developed cardiac tamponade due to a cardiac mass with associated spill, which resulted in her euthanasia.

  8. Clinical and diagnostic challenges in a rare case of motor weakness with endocrinopathy: A case report

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    Ravinder Garg

    2016-01-01

    Full Text Available Electrolyte imbalance always poses challenging situations to the attending intensivists, particularly if it is associated with endocrinopathies and other comorbidities. One such rare clinical scenario is hypokalemic periodic paralysis (HPP due to hyperthyroidism. The epidemiology of such a condition is slightly higher among males of Asian origin as compared to its universal occurrence. The diagnostic challenges in this clinical situation can lead to higher morbidity if timeliness is compromised from the presentation to active management. Moreover, atypical presentation of this pathologic condition further compounds the problem if it is associated with overt hyperthyroidism. Here, we report a unique case that presented to the emergency medicine department of our institute with weakness of all the four limbs and in which we faced all the diagnostic and management challenges as the clinical condition of hypokalemia was somehow dominated by overt hyperthyroidism.

  9. [Laryngeal amyloidosis: a clinical case and review of literature].

    Science.gov (United States)

    Fries, S; Pasche, P; Brunel, C; Schweizer, V

    2015-09-30

    Amyloidosis consists of different forms of systemic or isolated organ lesions characterised by fibrillary protein deposits in extra-cellular tissue. The isolated involvement of the larynx is the most frequent form in the ENT sphere. We present a clinical case of a 67 year-old woman addressed for a sub-acute laryngitis resistant to conservative treatment, and finally diagnosed with laryngeal amyloidosis. We reviewed its physiopathology, the scientific literature as well as the different possibilities of management. Laryngeal amyloidosis is rare. A thorough additional work-up for the research of multifocal or systemic forms is highly recommended. The treatment aims at a minimal invasive endoscopic surgery with functional organ preservation.

  10. An enigmatic clinical entity: A new case of olfactory schwannoma.

    Science.gov (United States)

    Manto, Andrea; Manzo, Gaetana; De Gennaro, Angela; Martino, Vincenzo; Buono, Vincenzo; Serino, Antonietta

    2016-06-01

    Olfactory schwannomas, also described as subfrontal or olfactory groove schwannomas, are very rare tumors, whose pathogenesis is still largely debated. We report a case of olfactory schwannoma in a 39-year-old woman who presented with anosmia and headache. The clinical examination did not show lesions in the nose-frontal region and there was no history of neurofibromatosis. Head MRI and CT scan revealed a lobulated extra-axial mass localized in the right anterior cranial fossa that elevated the ipsilateral frontal pole. Bilateral frontal craniotomy demonstrated a tumor strictly attached to the right portion of the cribriform plate that surrounded the right olfactory tract, not clearly identifiable. The immunohistochemical analysis suggested the diagnosis of typical schwannoma. The patient was discharged without any neurological deficit and a four-month postoperative MRI scan of the brain showed no residual or recurrent tumor. © The Author(s) 2016.

  11. [Atypical mycobacterial infection after kidney transplant: two clinical cases].

    Science.gov (United States)

    Mele, Alessandra Antonia; Bilancio, G; Luciani, Remo; Bellizzi, Vincenzo; Palladino, Giuseppe

    2013-01-01

    Infections are an important cause of morbidity and mortality during kidney transplant. In areas where tuberculosis is not endemic, Mycobacteria other than tuberculosis (MOOT), also known as 'atypical' Mycobacteria, are more frequently involved in mycobacterial infections than M. tuberculosis. The incidence of MOOT infection in renal transplant recipients ranges from 0.16 to 0.38 percent. This low rate of reported incidence is, however, often due to delay in diagnosis and lack of therapeutic protocols. Further difficulty is caused by the interaction of antimycobacterial drugs with the post-transplant immunosuppressive regimen, necessitating close monitoring of plasma concentrations and careful dose modification. We present two cases of Mycobacterium Chelonae infection in kidney transplant recipients which differ in both clinical presentation and pharmacological approach.

  12. [Basilar ectasia and stroke: clinical aspects of 21 cases].

    Science.gov (United States)

    de Oliveira, R de M; Cardeal, J O; Lima, J G

    1997-09-01

    Ectasia of the basilar artery (EB) occurs when its diameter is greater than normal along all or part of its course, and/or when it is abnormally tortuous. EB may cause cranial nerve dysfunction, ischemic stroke or subarachnoid hemorrhage, pseudotumor or hydrocephalus. We tried to describe cases of stroke associated with EB, analyze its frequency, clinical aspects, and the mechanisms involved in different forms of its presentation. We found 21 patients with stroke and EB. The association between EB and stroke was more prevalent in males over the age of fifty. Main symptoms were hemiparesia, cranial nerves dysfunction, and cerebellar ataxia. Cerebral infarcts associated with EB were due to different mechanisms: arterial thrombosis, artery-to-artery embolism, mass effect with angulation and obstruction of the vertebral and basilar branches.

  13. Acute normovolaemic haemodilution - 2 case studies : clinical communication

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    K.E. Joubert

    2008-05-01

    Full Text Available Acute normovolaemic haemodilution (ANH is a technique used to preserve a patient's owns red blood cells and reduce the incidence of heterogeneous blood transfusion. This paper describes the use of the technique in a dog and a kitten. A significant benefit of ANH can be shown in the canine case presented. The dog lost 1800m of blood during surgery but the haematocrit was only reduced to 33% 6 hours after the end of surgery. The kitten, however, did not benefit from ANH. It lost a small volume of blood during surgery and developed complications. This paper also describes some of the potential complications that may occur. To the best of my knowledge, this is the 1st clinical description of ANH in a dog and a cat.

  14. Clinical and Electrophysiological Report of a Unilateral Retinitis Pigmentosa Case

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    Sedaghat MR

    2014-04-01

    Full Text Available Introduction: To describe clinical and electrophysiological features of a patient with unilateral Retinitis Pigmentosa (RP. Case: A 29-year-old female with a long history of progressive visual disturbance in the right eye has undergone multiple eye examinations during the past eight years. There was nothing noticeable in her past medical and ocular history. Comprehensive eye examinations were done in the first visit. All data was suggestive of right eye RP. Posterior segment fundal examination findings were: a pallor waxy disc, vessel attenuation, and extended pigmentary degeneration of the mid-peripheral retina. The left eye examination was normal. Comparing the automated 60 degree and 30 degree visual fields of both eyes obviously showed significant defects in the right eye visual field but normal in the left eye.  All of the probable infectious agents, which can cause similar ocular manifestations, were ruled out by serological tests. The standard photopic and scotopic electroretinographies were significantly reduced in amplitude in the right eye; however, they were normal in the left eye. Also, the standard Electro-Oculography (EOG results were the same as the Electro-Retinography (ERG ones in both eyes. Eye examinations were normal in other family members. Over an eight-year follow-up period, progressive deteriorating vision has gradually become more noticeable in the right eye. The left eye has been completely normal since.  This data was compatible with the Francois and Verriesr unilateral RP diagnostic criteria. Conclusion: Clinical signs and symptoms, a minimum of a five-year follow-up period, and confirmatory ERG and EOG are very helpful to diagnose andaffirm the case of unilateral RP.

  15. First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.

    Science.gov (United States)

    Tincheva, Savina; Todorov, Tihomir; Todorova, Albena; Georgieva, Ralica; Stamatov, Dimitar; Yordanova, Iglika; Kadiyska, Tanya; Georgieva, Bilyana; Bojidarova, Maria; Tacheva, Genoveva; Litvinenko, Ivan; Mitev, Vanyo

    2015-12-01

    Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by intractable seizures in neonates and infants. The seizures cannot be controlled with antiepileptic medications but respond both clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). PDE is caused by mutations in the ALDH7A1 gene. Molecular genetic analysis of the ALDH7A1 gene was performed in seven patients, referred with clinical diagnosis of PDE. Mutations were detected in a dizygotic twin pair and a non-related boy with classical form of PDE. Direct sequencing of the ALDH7A1 gene revealed one novel (c.297delG, p.Trp99*) and two already reported (c.328C>T, p.Arg110*; c.584A>G, p.Asn195Ser) mutations. Here, we report the first genetically proven cases of PDE in Bulgaria.

  16. STUDY OF INTRAOPERATIVELY AND HISTOLOGICALLY NEGATIVE CASES IN CLINICALLY DIAGNOSED CASES OF ACUTE APPENDICITIS

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    Muralidhar Manga

    2016-07-01

    Full Text Available BACKGROUND Acute appendicitis remains the most common cause of acute abdomen requiring surgical intervention. Diagnosis of appendicitis is done on clinical grounds. The aetiology and pathogenesis of appendicitis are poorly understood. The cause of pain in the cases with clinical diagnosis of acute appendicitis but intraoperatively normal looking appendix remains controversial. The present study aims at determining the cause of pain in these cases by combining routine histopathology, IHC to investigate the status of the enteric nervous system in normal and inflamed appendices. MATERIALS AND METHODS In the present study, 694 patients who underwent appendicectomy with diagnosis of acute appendicitis were included. In 89 cases, there were no signs of inflammation intraoperatively. These appendix specimens were followed by histopathological examination by H&E staining. 69 out of 89 specimens did not have signs of inflammation in histological examination by H&E staining. Cases which are diagnosed as acute appendicitis but histologically negative in H&E staining are taken as study cases. 49 acute appendicitis cases- histologically positive acute appendicitis (HPAA and 20 appendices from right hemicolectomy specimens were taken as controls. All these specimens were subjected to; 1 Routine Haematoxylin & Eosin staining. 2 Toluidine blue stain for mast cell evaluation. 3 Immunohistochemistry by S-100 stain for evaluating size and number of the ganglia. OBSERVATION The mean mast cell count was more in the histologically negative acute appendicitis group when compared to histologically positive acute appendicitis and control group. The mean size and number of the ganglia were more in the histologically negative acute appendicitis group when compared to histologically positive acute appendicitis and control groups. CONCLUSION Neuronal hypertrophy and mast cells may play a role in the pathogenesis of “appendicitis like pain” in patients with

  17. Basics of case report form designing in clinical research

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    Shantala Bellary

    2014-01-01

    Full Text Available Case report form (CRF is a specialized document in clinical research. It should be study protocol driven, robust in content and have material to collect the study specific data. Though paper CRFs are still used largely, use of electronic CRFs (eCRFS are gaining popularity due to the advantages they offer such as improved data quality, online discrepancy management and faster database lock etc. Main objectives behind CRF development are preserving and maintaining quality and integrity of data. CRF design should be standardized to address the needs of all users such as investigator, site coordinator, study monitor, data entry personnel, medical coder and statistician. Data should be organized in a format that facilitates and simplifies data analysis. Collection of large amount of data will result in wasted resources in collecting and processing it and in many circumstances, will not be utilized for analysis. Apart from that, standard guidelines should be followed while designing the CRF. CRF completion manual should be provided to the site personnel to promote accurate data entry by them. These measures will result in reduced query generations and improved data integrity. It is recommended to establish and maintain a library of templates of standard CRF modules as they are time saving and cost-effective. This article is an attempt to describe the methods of CRF designing in clinical research and discusses the challenges encountered in this process.

  18. Clinical-histopathological correlation in a case of Coats' disease

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    Zajdenweber Moyses E

    2006-08-01

    Full Text Available Abstract Background Coats' disease is a non-hereditary ocular disease, with no systemic manifestation, first described by Coats in 1908. It occurs more commonly in children and has a clear male predominance. Most patients present clinically with unilateral decreased vision, strabismus or leukocoria. The most important differential diagnosis is unilateral retinoblastoma, which occurs in the same age group and has some overlapping clinical manifestations. Case presentation A 4 year-old girl presented with a blind and painful right eye. Ocular examination revealed neovascular glaucoma, cataract and posterior synechiae. Although viewing of the fundus was impossible, computed tomography disclosed total exsudative retinal detachment in the affected eye. The eye was enucleated and subsequent histopathological evaluation confirmed the diagnosis of Coats' disease. Conclusion General pathologists usually do not have the opportunity to receive and study specimens from patients with Coats' disease. Coats' disease is one of the most important differential diagnoses of retinoblastoma. Therefore, It is crucial for the pathologist to be familiar with the histopathological features of the former, and distinguish it from the latter.

  19. [Assessment of individual clinical outcomes: regarding an electroconvulsive therapy case].

    Science.gov (United States)

    Iraurgi, Ioseba; Gorbeña, Susana; Martínez-Cubillos, Miren-Itxaso; Escribano, Margarita; Gómez-de-Maintenant, Pablo

    2015-01-01

    Evaluation of therapeutic results and of the efficacy and effectiveness of treatments is an area of interest both for clinicians and researchers. In general, randomized controlled trial designs have been used as the methodology of choice in which intergroup comparisons are made having a minimum of participants in each arm of treatment. However, these procedures are seldom used in daily clinical practice. Despite this fact, the evaluation of treatment results for a specific patient is important for the clinician in order to address if therapeutic goals have been accomplished both in terms of statistical significance and clinical meaningfulness. The methodology based on the reliable change index (Jacobson y Truax)1 provides an estimate of these two criteria. The goal of this article is to propose a procedure to apply the methodology with a single case study of a woman diagnosed with major depression and treated with electroconvulsive therapy. Copyright © 2014 SEP y SEPB. Published by Elsevier España. All rights reserved.

  20. Clinical-surgical case: hemivertebra in a bulldog

    Directory of Open Access Journals (Sweden)

    Javier Fernando Rivas Guerrero

    2007-06-01

    Full Text Available Hemivertebra is a congenital malformation, that affects small and brachicephalic breeds particularly those with short and twisted tail. Its origin is hereditary. It becomes from an inappropriate or incomplete embryo development of a vertebrae or due to its vascularization or ossification. Hemivertebras are cuneiform vertebrae and its vertex may be lead dorsally, ventrally or medianly through the mean line. It happens mostly in thoracic vertebras. Symptomatology is varied; the most important is pain, showed by young animals, three or four months of age with weakness of posterior limbs. It could be found pain at back when palpations near the hemivertebra. In puppies with those symptoms, the paralysis in posterior limbs gets worse; they can show muscular atrophy, and no control of bladder and intestines. Final diagnostic of hemivertebra must be done with radiological studies of spinal column and the treatment consists in decompress the vertebral body involved and a stabilization of the spinal column. This study presents the case of a male Bulldog, six months old, which is taken to the clinic because of pain, and neurological symptomatology and after many clinical exams a hemivertebra was confirmed. The patient had a surgery for its treatment and all steps of the surgical process are shown.

  1. A gene expression signature for RSV: clinical implications and limitations.

    Directory of Open Access Journals (Sweden)

    Peter J M Openshaw

    2013-11-01

    Full Text Available Peter Openshaw discusses the challenges in advancing respiratory syncytial virus (RSV treatments and the implications of a study by Mejias and colleagues using a newly identified gene signature for diagnosis and prediction of RSV severity. Please see later in the article for the Editors' Summary.

  2. Motor Decline in Clinically Presymptomatic Spinocerebellar Ataxia Type 2 Gene Carriers

    OpenAIRE

    Luis Velázquez-Perez; Rosalinda Díaz; Ruth Pérez-González; Nalia Canales; Roberto Rodríguez-Labrada; Jacquelín Medrano; Gilberto Sánchez; Luis Almaguer-Mederos; Cira Torres; Juan Fernandez-Ruiz

    2009-01-01

    BACKGROUND: Motor deficits are a critical component of the clinical characteristics of patients with spinocerebellar ataxia type 2. However, there is no current information on the preclinical manifestation of those motor deficits in presymptomatic gene carriers. To further understand and characterize the onset of the clinical manifestation in this disease, we tested presymptomatic spinocerebellar ataxia type 2 gene carriers, and volunteers, in a task that evaluates their motor performance and...

  3. [Individualised care plan during extracorporeal membrane oxygenation. A clinical case].

    Science.gov (United States)

    Call Mañosa, S; Pujol Garcia, A; Chacón Jordan, E; Martí Hereu, L; Pérez Tejero, G; Gómez Simón, V; Estruga Asbert, A; Gallardo Herrera, L; Vaquer Araujo, S; de Haro López, C

    2016-01-01

    An individualised care plan is described for a woman diagnosed with pneumonia, intubated, and on invasive mechanical ventilation, who was admitted to the Intensive Care Unit for extracorporeal membrane oxygenation (ECMO). A nursing care plan was designed based on Marjory Gordon functional patterns. The most important nursing diagnoses were prioritised, using a model of clinical reasoning model (Analysis of the current status) and NANDA taxonomy. A description is presented on, death anxiety, impaired gas exchange, decreased cardiac output, dysfunctional gastrointestinal motility, risk for disuse syndrome, infection risk, and bleeding risk. The principal objectives were: to reduce the fear of the family, achieve optimal respiratory and cardiovascular status, to maintain gastrointestinal function, to avoid immobility complications, and to reduce the risk of infection and bleeding. As regards activities performed: we gave family support; correct management of the mechanical ventilation airway, cardio-respiratory monitoring, skin and nutritional status; control of possible infections and bleeding (management of therapies, care of catheters…). A Likert's scale was used to evaluate the results, accomplishing all key performance indicators which were propose at the beginning. Individualised care plans with NNN taxonomy using the veno-venous ECMO have not been described. Other ECMO care plans have not used the same analysis model. This case can help nurses to take care of patients subjected to veno-venous ECMO treatment, although more cases are needed to standardise nursing care using NANDA taxonomy.

  4. [Functional aniseikonia: clinical study of 110 cases (author's transl)].

    Science.gov (United States)

    Reboud, F N; Vola, J L; Berard, P V

    1981-01-01

    A clinical study was conducted in 110 cases of subjective aniseikonia, a syndrome that is often neglected. After in practice summarizing the different distortions composing the phenomenon of aniseikonia, a description of the prototype apparatus used for the experiments is given: it is eikonometric stereo-projector the originality of which lies in the measuring system, constituted by the projected stereograms. Three parameters were studied: depth-perception, peerception threshold of anseiikonic disparity, and value of the found aniseikonia. The results are presented in relation to 3 groups of subjects: 14 emmetropic, 32 isometropic, and 64 anisometropic, 32 isometropic, and 64 anisometropic patients, including 24 monocular aphakic. The author shows the advantage of contact lens correction in the last cases: with an average of 3.5 p. cent, the found aniseikonia was always inferior to 6 p. cent and to the theorectical levels currently accepted. Finally, the phenomenon of "cortical malleability" arises in the adaptation of the patient to his optical correction and could regularly and progressively be increased.

  5. DIAGNOSIS AND TREATMENT OF METACHRONOUS TESTICULAR CANCER: A CLINICAL CASE

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    A. S. Kalpinsky

    2013-01-01

    Full Text Available The incidence of bilateral testicular cancer is 5% in the total cohort of patients. Synchronous and metachronous testicular cancers are detected in 1-2 and 3% of cases, respectively. The standard treatment for testicular cancer is orchifuniculectomy and that for synchronous or metachronous cancer is organ-saving treatment, testectomy.The paper describes a clinical case of multiple primary metachronous testicular cancer. A 24-year-old patient underwent surgery (orchifuniculectomy and received 4 courses of BEP polychemotherapy for embryonal carcinoma of the left testicle at the P.A. Herzen Moscow Oncology Research Institute. After 55 months, a dynamic control examination diagnosed a 9-mm tumor in his single right testis that was thereafter resected. Its histological examination revealed embryonal carcinoma with solitary structures in the immature teratoma. Following 22 months, a control examination showed a recurrence of the disease, for which orchifuniculectomy of the single right testis, followed by hormone replacement therapy, was performed. The follow-up period was 80 months; no recurrence is now observed.

  6. Recognizing the clinical manifestations of acromegaly: case studies.

    Science.gov (United States)

    Iuliano, Sherry L; Laws, Edward R

    2014-03-01

    To present case studies of a 36-year-old woman and a 73-year-old man who presented with the syndrome of acromegaly, and to provide primary care nurse practitioners (NPs) with the understanding of the clinical and laboratory features needed for early recognition and treatment of this fascinating disease. A comprehensive review of published literature on acromegaly is presented. The findings discussed include the history, physical examination, and diagnostic studies of two patients presenting in different ways. They both saw multiple healthcare providers, and had symptoms and signs eventually leading to the diagnosis of acromegaly. Acromegaly is the result of excessive amounts of growth hormone (GH) and insulin-like growth factor type 1 (IGF-1), almost always caused by a benign adenoma of the pituitary gland. This leads to coarse facial features, soft tissue swelling (including the tongue), enlargement of the hands and feet, respiratory problems, hypertension, diabetes mellitus, carpal tunnel syndrome, and osteoarthritis. Early recognition and appropriate referral can reverse some of the signs and symptoms over time, and lead to decreased mortality and a markedly improved quality of life. These cases exemplify the challenges faced by NPs and other healthcare providers in diagnosing patients with acromegaly. ©2013 The Author(s) ©2013 American Association of Nurse Practitioners.

  7. Appendiceal mucocele: clinical and imaging features of 14 cases.

    Science.gov (United States)

    Malya, F Umit; Hasbahceci, M; Serter, A; Cipe, G; Karatepe, O; Kocakoc, E; Muslumanoglu, M

    2014-01-01

    Appendiceal mucocele as a cystic dilatation filled with mucinous material is a very rare disease of the appendix vermiformis. Its preoperative diagnosis is still acking behind common use of imaging techniques. Retrospective analysis of the patients with a pathological diagnosis of appendiceal mucocele with regard to clinical and imaging features. The study group included 14 patients with a mean age of 51 years (range from 17 to 82 years). Predominant symptoms were pain and feeling of fullness in the right iliac fossa in 9(64%) and 5 (36%) patients, respectively. For imaging purposes, use of computed tomography resulted in preoperative diagnosis of appendiceal mucocele in half of the patients(50%). 93% of the cases underwent appendectomy, and righth emicolectomy was performed in one patient (7%). Mucocele and cystadenoma were detected in 11 (79%) and 3 (21%)patients, respectively. Presence of acute appendicitis and coloncarcinoma were confirmed afterwards histologically in 4 (29%)and one (7%) patients, respectively. Despite the common use of imaging studies,preoperative diagnosis of appendiceal mucocele is still not possible in most of the cases. During surgical treatment,which is tailored according to imaging and intraoperative findings, precautionary measures to avoid intraperitoneal rupture and dissemination should be taken. Celsius.

  8. Cushing syndrome and adrenal carcinoma: a clinical case.

    Science.gov (United States)

    Candela, Giancarlo; Varriale, Sergio; Manetta, Fiorenza; Di Libero, Lorenzo; Giordano, Marco; Santini, Luigi

    2009-01-01

    A 21-year-old girl arrived at our hospital with a short history of hirsutism, facial pletora, amenorrhea, progressive weight gain and hypertension. The clinically suspected Cushing syndrome was then confirmed through chemical pathology. In fact, the results from hemato-chemical exams were: 45.5 Ig/dl cortisol, a DHEA sulphate >8000 ng/ml, 7.2 pg/ml ACTH, 17OH-Progesterone 10.66 ng/ml, Delta-4 Androstenedione 5.2 ng/ml, UFC (Urine Free Cortisol) >1000 mg/24h, FSH 0.8 mUI/ml, LH < 0.1 mUI/ml, Prolactin 13, 17, estradiol 96 pg/ml, and a bonded hypokalaemia, K+ 2,4 mEq/L. The echogram of the complete abdomen reveals, near the superior pole of the left kidney, the presence of a solid mass, not independent from the pole itself about 9.5 centimetres long, diagnosis confirmed to the TC abdomen and pelvis too, with or without mdc. This removed mass resulted, from the histological exam, in an adrenal carcinoma with a general and trabecular structure. Primal adrenal tumours are responsible for about 10% of Cushing syndrome cases. They present an annual incidence of 0.5 - 2.0 cases per million of inhabitants. The prognosis of adrenal ca remains low, with 5 year survival rate for 38% of diagnosed patients.

  9. Eruption cysts: A series of 66 cases with clinical features

    Science.gov (United States)

    Şen-Tunç, Emine; Şaroğlu-Sönmez, Işıl; Bayrak, Şule; Tüloğlu, Nuray

    2017-01-01

    Background An eruption cyst (EC) is a benign, developmental cyst associated with a primary or permanent tooth. This paper presents 66 ECs in 53 patients who reported to 3 different centers in Turkey between 2014-2015. Material and Methods 53 patients (31 male, 22 female) with 66 ECs were diagnosed and treated over a 1-year period. The mean age of patients was 5.4 years (minimum 5 months, maximum 11 years). Clinical examination and periapical radiographs were used to establish diagnosis. Age, gender, site, history of trauma and type of treatment were recorded. Results Of the 66 ECs diagnosed in 53 patients, more than half (56.6%) were located in the maxilla, with the maxillary first primary molars the teeth most commonly associated with ECs (30.3%). Multiple ECs were diagnosed in 13 of the 53 patients. ECs had previously diagnosed in the primary dentition of 2 patients, 3 patients reported a history of trauma to primary teeth. In the majority of patients (46 cases, 86.8%), no treatment was provided, whereas surgical treatment was provided in the remaining 7 cases (13.2%). Conclusions Eruption cysts are usually asymptomatic and do not require treatment;. however, if the cyst is symptomatic, it should be treated with simple surgical excision. Key words:Odontogenic cyst, children, eruption cyst, oral pathology. PMID:28160586

  10. Schwannoma located in the palate: clinical case and literature review.

    Science.gov (United States)

    López-Carriches, Carmen; Baca-Pérez-Bryan, Rafael; Montalvo-Montero, Santiago

    2009-09-01

    Schwannoma is a benign tumor that originates from the presence of Schwann cells of the peripheral nerves. They are usually asymptomatic, do not recur, and malignant transformation is rare. The preoperative diagnosis is often difficult, and although computed tomography and magnetic resonance imaging are very helpful, in the majority of cases, the diagnosis can only be made during surgery and by histological study. The immunohistochemistry reveals that the Schwannoma cells test positive for S-100 protein. We describe a clinical case of Schwannoma located in the palate of a 15-year-old patient. It is important to highlight that the Schwannoma is usually found in the head and neck, and rarely in the oral cavity. When it does occur in this area, it is more likely to be found in the tongue. Other locations in the oral cavity include: the floor of the mouth, palate, gingiva, vestibular mucosa, lips and mental nerve area, listed from most common to least common. There has been no sign of recurrence two years after surgery.

  11. Clinical features of adult spinal muscular atrophy:46 cases

    Institute of Scientific and Technical Information of China (English)

    Xiaojun He; Ping Zhang; Guanghui Chen

    2006-01-01

    BACKGROUND: Spinal muscular atrophy (SMA) is a kind of degenerative disease of nervous system. There are 4 types in clinic, especially types Ⅰ, Ⅱ and Ⅲ are common, and the researches on those 3 types are relative mature. Type Ⅳ is a kind of adult spinal muscular atrophy (ASMA), which has low incidence rate and is often misdiagnosed as amyotrophic lateral sclerosis, muscular dystrophy, cervical syndrome, or others.OBJECTIVE: To observe the clinical features of 46 ASMA patients and analyze the relationship between course and activity of daily living.DESIGN: Case analysis.SETTING: Departments of Neurology of the 81 Hospital of Chinese PLA, the Second Affiliated Hospital of Nanjing Medical College and General Hospital of Nanjing Military Area Command of Chinese PLA.PARTICIPANTS: A total of 46 ASMA patients were selected from the Departments of Neurology of the 81Hospital of Chinese PLA, the Second Affiliated Hospital of Nanjing Medical College and General Hospital of Nanjing Military Area Command of Chinese PLA between April 1998 and January 2002. All patients were consentient. Among 46 cases, there were 37 males and 9 females with the mean age of 42 years. The patients' courses in all ranged from 6 months to 23 years, concretely, courses of 37 cases were less than or equal to 5 years, and those of 9 cases were more than or equal to 6 years.METHODS : ① All the 46 ASMA patients were asked to check blood sedimentation, anti O, serum creatinine,creatine, blood creatine phosphokinase (CPK) and muscular biopsy as early as possible. ② X-ray was used to measure plain film of cervical vertebra borderline film of cranium and neck at proximal end of upper limb of 25 cases and plain film of abdominal vertebra at proximal end of lower limb of 17 cases.③ Cerebrospinal fluid of lumbar puncture was checked on 42 cases, for routine examination, biochemical examination, and immunoglobulin examination. Electromyogram (EMG) was also examined to 42 cases. ④ Barthel index

  12. Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study.

    Science.gov (United States)

    Esmail, Eman H; Labib, Dalia M; Rabie, Walaa A

    2015-09-01

    Serotonin levels might alter susceptibility to seizures. Serotonin transporter (5HTT) gene polymorphisms were found to be associated with some forms of epilepsy. Here, we attempted to examine an association between 5HTT VNTR allele variants in a serotonin transporter gene and epileptogenesis in juvenile myoclonic epilepsy (JME) cases. We conducted a case-control candidate gene study evaluating the frequencies of 5HTT VNTR allele variants using SYBR green real-time PCR with melting curve analysis in JME patients and healthy subjects. Forty patients with JME were selected from the Epilepsy Outpatient Clinic of Kasr Al Ainy Hospital, Cairo University, who had been classified according to the electroclinical classification of the ILAE. The control group consisted of 40 healthy Egyptian subjects. The less efficient transcriptional genotypes for 5-HTT polymorphisms were more frequent in JME patients (OR 9.33, CI 2.85-30.60; p value epileptogenesis in JME.

  13. PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience.

    Science.gov (United States)

    Salehzadeh, Farhad; Vahedi, Maryam; Hosseini-Asl, Saeid; Jahangiri, Sepideh; Habibzadeh, Shahram; Hosseini-Khotbesara, Mahsa

    2014-02-01

    Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it doesn't have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene mutations in patients with PFAPA syndrome. 21 patients with PFAPA syndrome who had diagnostic criteria were enrolled in this study and 12 common MEFV gene mutations i.e. P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q evaluated. All the patients were screened for MEFV gene mutations by a reverse hybridization assay (FMF Strip Assay, Vienna lab, Vienna, Austria) according to the instructions provided by the manufacturer. Findings : The age of patients was between 6 months to 14 years, and 15 were males. Seven patients had heterozygote and one had compound heterozygote (K695R, V725A) mutation. There were 4 alleles M694V, 3 alleles V726A, 1 allele E148Q and 1 allele K694R. No significant difference existed between mutated patients with non-mutated in symptoms like aphthous and stomatitis, duration of attacks, episodes of fever and response to treatment. Gaslini score test was not helpful to predict the probability of gene mutations. About 30 percent of patients had MEFV gene mutations but these mutations did not play a main role in presentation of PFAPA symptoms.

  14. Differential expression of putative drug resistance genes in Mycobacterium tuberculosis clinical isolates.

    Science.gov (United States)

    González-Escalante, Laura; Peñuelas-Urquides, Katia; Said-Fernández, Salvador; Silva-Ramírez, Beatriz; Bermúdez de León, Mario

    2015-12-01

    Understanding drug resistance in Mycobacterium tuberculosis requires an integrated analysis of strain lineages, mutations and gene expression. Previously, we reported the differential expression of esxG, esxH, infA, groES, rpmI, rpsA and lipF genes in a sensitive M. tuberculosis strain and in a multidrug-resistant clinical isolate. Here, we have evaluated the expression of these genes in 24 clinical isolates that belong to different lineages and have different drug resistance profiles. In vitro, growth kinetics analysis showed no difference in the growth of the clinical isolates, and thus drug resistance occurred without a fitness cost. However, a quantitative reverse transcription PCR analysis of gene expression revealed high variability among the clinical isolates, including those with similar drug resistance profiles. Due to the complexity of gene regulation pathways and the wide diversity of M. tuberculosis lineages, the use of gene expression as a molecular signature for drug resistance is not straightforward. Therefore, we recommend that the expression of M. tuberculosis genes be performed individually, and baseline expression levels should be verified among several different clinical isolates, before any further applications of these findings.

  15. Electroporation for drug and gene delivery in the clinic: doctors go electric

    DEFF Research Database (Denmark)

    Gehl, J.

    2008-01-01

    Electroporation is a unique system for drug and gene delivery, as it is possible to very specifically target certain tissues within the body with whatever drug, gene, isotope, or other product is desired in a specific situation. An increasing number of clinical trials are being launched, and soph...

  16. Clinical course of cone dystrophy caused by mutations in the RPGR gene

    NARCIS (Netherlands)

    Thiadens, A.A.H.J.; Soerjoesing, G.G.; Florijn, R.J.; Tjiam, A.G.; Hollander, A.I. den; Born, L.I. van den; Riemslag, F.C.; Bergen, A.A.B.; Klaver, C.C.

    2011-01-01

    BACKGROUND: Mutations in the RPGR gene predominantly cause rod photoreceptor disorders with a large variability in clinical course. In this report, we describe two families with mutations in this gene and cone involvement. METHODS: We investigated an X-linked cone dystrophy family (1) with 25

  17. Clinical course of cone dystrophy caused by mutations in the RPGR gene

    NARCIS (Netherlands)

    A.A.H.J. Thiadens (Alberta); G.G. Soerjoesing (Gyan); R.J. Florijn; A.G. Tjiam; A.I. Hollander (Anneke); L.I. van den Born (Ingeborgh); F.C.C. Riemslag (Frans); A.A.B. Bergen (Arthur); C.C.W. Klaver (Caroline)

    2011-01-01

    textabstractBackground: Mutations in the RPGR gene predominantly cause rod photoreceptor disorders with a large variability in clinical course. In this report, we describe two families with mutations in this gene and cone involvement. Methods: We investigated an X-linked cone dystrophy family (1)

  18. A clinical case of pseudotumorous chronic parainfectious limbic encephalitis

    Directory of Open Access Journals (Sweden)

    N. A. Shnaider

    2014-01-01

    Full Text Available Parainfectous limbic encephalitis (PILE associated with viruses of the Herpesviridae family is one of the forms of chronic herpes encephalitis characterized by limbic system dysfunction and a prolonged course with frequent exacerbations. There are two types of the course of the disease: latent autoimmune limbic encephalitis (LE progressing to mesial temporal sclerosis and pseudotumorous granulomatous LE. The latter (inflammatory pseudotumor or granuloma is characterized by the formation of a polymorphic inflammatory infiltrate with the elements of fibrosis, necrosis, and a granulomatous reaction and by myofibroblast cells. This is a slowly growing benign pseudotumor that contains much more plasma cells than inflammatory ones. The diagnosis of pseudotumorous LE is difficult and requires the participation of a neurologist, an immunologist, an oncologist, and a neurosurgeon. Perfusion computed tomography, magnetic resonance imaging, and magnetic resonance spectroscopy give proof to the adequacy of the term inflammatory pseudotumor because it is histologically difficult to characterize the lesion as a tumor or inflammation. When a chronic lesion in the central nervous system is lately diagnosed, the prognosis of the disease may be poor and complicated by the development of resistant symptomatic focal epilepsy and emotional, volitional, and cognitive impairments. It was differentially diagnosed from brain tumors (astrocytic, oligodendroglial, and mixed gliomas, ependymal, neuronal, neuroglial, and embryonal tumors, meningiomas, cholesteatomas, dermoid cysts, teratomas, and cysts, other reactive and inflammatory processes (leukemic infiltrations, systemic lupus erythematosus, multiple sclerosis, encephalomyelitis, hypoparathyroidism, Addison's disease, vitamin A intoxication, and the long-term use of glucocorticoids and contraceptives. The authors describe a clinical case of the pseudotumorous course of chronic PILE in a 28-year-old woman

  19. Compartment syndrome after total knee arthroplasty: regarding a clinical case.

    Science.gov (United States)

    Pinheiro, Ana Alexandra da Costa; Marques, Pedro Miguel Dantas Costa; Sá, Pedro Miguel Gomes; Oliveira, Carolina Fernandes; da Silva, Bruno Pombo Ferreira; de Sousa, Cristina Maria Varino

    2015-01-01

    Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

  20. Compartment syndrome after total knee arthroplasty: regarding a clinical case

    Directory of Open Access Journals (Sweden)

    Ana Alexandra da Costa Pinheiro

    2015-08-01

    Full Text Available ABSTRACT Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

  1. [Schwannoma located in the tongue. A clinical case report].

    Science.gov (United States)

    Gallesio, C; Berrone, S

    1992-12-01

    Schwannoma or neurilemmoma and neurofibroma are two tumors of the peripheral nerves originating in the nerve sheaths. Schwannoma account for just over 1% of benign tumors reported in the oral cavity. The tongue is unanimously considered the most frequent site at this level; however, the tip is the least affected part of the organ. The case of schwannoma reported here is the third observed with a lingual localization in 18 years by the Division of Maxillo-Facial Surgery of The Odontostomatological Clinic of the University of Turin. The case is of interest due the rarity of this pathology and the presence of non-significant symptoms for a presumed initial diagnosis. CASE REPORT. A 21-year-old woman was referred to our attention following the appearance two years earlier of a slowly growing swelling on the tip of the tongue. The patient complained of the fastidious presence, disturbance to mastication and phonation and occasional paresthesia of the tip of the tongue. The small mass, which was clearly evident on examination, was covered with normal mucosa. On palpation it had a hard-elastic consistency; it was slightly painful, smooth and partial mobile on surrounding levels. The patient underwent the surgical removal of the neoplasia under anesthesia. The mass was well capsulated and a good cleavage plane was easily found. The neoformation was yellowy grey, oval bean-shaped, measuring 1.9 x 1.3 x 1.1 cm. The histological diagnosis, confirmed by immunohistochemical tests, was benign Antoni's, type A schwannoma. The postoperative period was good an there was no recidivation during the course of a one-year follow-up. DISCUSSION AND CONCLUSIONS. Benign schwannoma, which are relatively rare in the oral cavity, represent a pathology which are often not taken into account during clinical practice. Symptoms which take the form of slight hypoesthesia and vague paresthesia may lead to the suspected diagnosis of this type of neoplasia. The final diagnosis is always made after a

  2. Developments in Clinical Practice: Follow up Clinic for BRCA Mutation Carriers: a Case Study Highlighting the "Virtual Clinic"

    Directory of Open Access Journals (Sweden)

    Ardern-Jones Audrey

    2004-02-01

    Full Text Available Abstract This paper highlights the need for carriers to be followed up by health professionals who understand the complexities of the BRCA syndrome. A BRCA carrier clinic has been established in London and regular follow up is an essential part of the care for families. An open door policy has been set up for patients who may meet or telephone the cancer genetic nurse specialist for support and care at any time. An example of the follow up work is discussed in the format of a case of a young woman with a BRCA1 alteration who developed a primary peritoneal cancer following prophylactic oophorectomy. This case illustrates the work of the multi-disciplinary team caring for BRCA carriers.

  3. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

    Science.gov (United States)

    Martin, Hilary C; Kim, Grace E; Pagnamenta, Alistair T; Murakami, Yoshiko; Carvill, Gemma L; Meyer, Esther; Copley, Richard R; Rimmer, Andrew; Barcia, Giulia; Fleming, Matthew R; Kronengold, Jack; Brown, Maile R; Hudspith, Karl A; Broxholme, John; Kanapin, Alexander; Cazier, Jean-Baptiste; Kinoshita, Taroh; Nabbout, Rima; Bentley, David; McVean, Gil; Heavin, Sinéad; Zaiwalla, Zenobia; McShane, Tony; Mefford, Heather C; Shears, Deborah; Stewart, Helen; Kurian, Manju A; Scheffer, Ingrid E; Blair, Edward; Donnelly, Peter; Kaczmarek, Leonard K; Taylor, Jenny C

    2014-06-15

    In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic and electro-physiological processes have been implicated in disease causation. The clinical phenotypes share many features such as complex seizure types and developmental delay. Molecular diagnosis has historically been confined to sequential testing of candidate genes known to be associated with specific sub-phenotypes, but the diagnostic yield of this approach can be low. We conducted whole-genome sequencing (WGS) on six patients with severe early-onset epilepsy who had previously been refractory to molecular diagnosis, and their parents. Four of these patients had a clinical diagnosis of Ohtahara Syndrome (OS) and two patients had severe non-syndromic early-onset epilepsy (NSEOE). In two OS cases, we found de novo non-synonymous mutations in the genes KCNQ2 and SCN2A. In a third OS case, WGS revealed paternal isodisomy for chromosome 9, leading to identification of the causal homozygous missense variant in KCNT1, which produced a substantial increase in potassium channel current. The fourth OS patient had a recessive mutation in PIGQ that led to exon skipping and defective glycophosphatidyl inositol biosynthesis. The two patients with NSEOE had likely pathogenic de novo mutations in CBL and CSNK1G1, respectively. Mutations in these genes were not found among 500 additional individuals with epilepsy. This work reveals two novel genes for OS, KCNT1 and PIGQ. It also uncovers unexpected genetic mechanisms and emphasizes the power of WGS as a clinical tool for making molecular diagnoses, particularly for highly heterogeneous disorders.

  4. Interactions between the FTO and GNB3 genes contribute to varied clinical phenotypes in hypertension.

    Directory of Open Access Journals (Sweden)

    Rahul Kumar

    Full Text Available BACKGROUND: The genes FTO and GNB3 are implicated in essential hypertension but their interaction remains to be explored. This study investigates the role of interaction between the two genes in the pathophysiology of essential hypertension. METHODS/PRINCIPAL FINDINGS: In a case-control study comprising 750 controls and 550 patients, interaction between the polymorphisms of FTO and GNB3 was examined using multifactor dimensionality reduction (MDR. The influence of interaction on clinical phenotypes like systolic and diastolic blood pressure, mean arterial pressure and body mass index was also investigated. The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the best disease conferring model. Moreover, the interacted-genotypes having either 1, 2, 3, 4 or 5 risk alleles correlated with linearly increasing odds ratios of 1.91 (P = 0.027; 3.93 (P = 2.08E-06; 4.51 (P = 7.63E-07; 7.44 (P = 3.66E-08 and 11.57 (P = 1.18E-05, respectively, when compared with interacted-genotypes devoid of risk alleles. Furthermore, interactions among haplotypes of FTO (H1-9 and GNB3 (Ha-d differed by >1.5-fold for protective-haplotypes, CTGGC+TC [H2+Ha] and CTGAC+TC [H4+Ha] (OR = 0.39, P = 0.003; OR = 0.22, P = 6.86E-05, respectively and risk-haplotypes, AAAGC+CT [H3+Hc] and AAAGC+TT [H3+Hd] (OR = 2.91, P = 9.98E-06; OR = 2.50, P = 0.004, respectively compared to individual haplotypes. Moreover, the effectiveness of gene-gene interaction was further corroborated with a 1.29-, 1.25- and 1.38-fold higher SBP, MAP and BMI, respectively, in patients having risk interacted-haplotype H3+Hc and 2.48-fold higher SBP having risk interacted-haplotype H3+Hd compared to individual haplotypes. CONCLUSION: Interactions between genetic variants of FTO and GNB3 influence clinical parameters to augment hypertension.

  5. What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.

    Science.gov (United States)

    Pepin, Melanie G; Byers, Peter H

    2015-12-01

    Non-accidental injury (NAI) is a major medical concern in the United States. One of the challenges in evaluation of children with unexplained fractures is that genetic forms of bone fragility are one of the differential diagnoses. Infants who present with fractures with mild forms of osteogenesis imperfecta (OI) (OI type I or OI type IV), the most common genetic form of bone disease leading to fractures might be missed if clinical evaluation alone is used to make the diagnosis. Diagnostic clinical features (blue sclera, dentinogenesis imperfecta, Wormian bones on X-rays or positive family history) may not be present or apparent at the age of evaluation. The evaluating clinician faces the decision about whether genetic testing is necessary in certain NAI cases. In this review, we outline clinical presentations of mild OI and review the history of genetic testing for OI in the NAI versus OI setting. We summarize our data of molecular testing in the Collagen Diagnostic Laboratory (CDL) from 2008 to 2014 where NAI was noted on the request for DNA sequencing of COL1A1 and COL1A2. We provide recommendations for molecular testing in the NAI versus OI setting. First, DNA sequencing of COL1A1, COL1A2, and IFITM5 simultaneously and duplication/deletion testing is recommended. If a causative variant is not identified, in the absence of a pathologic clinical phenotype, no additional gene testing is indicated. If a VUS is found, parental segregation studies are recommended.

  6. Clinical analysis of abdominal wall endometriosis in 101 cases

    Institute of Scientific and Technical Information of China (English)

    Cheng Ning-hai; Zhu Lan; Lang Jing-he; Liu Zhu-feng; Sun Da-wei; Leng Jin-hua

    2006-01-01

    Objective: To review the clinical characteristics, treatment and prognoses of abdominal wall endometriosis(AWE).Methods: A retrospective study of 101 cases of AWE from 1992 to 2005 at Obstetric and Gynecologic Department of Peking Union Medical College Hospital was performed. Ninety-eight patients had a history of caesarean section. The mean age of the patients was (33.3±4.8) years and the average size of the mass was 1.5 cm. Abdominal wall mass associated pain during the menstrual cycle was noticed in 89.8% of the patients. The occurrence of AWE after caesarean section was 0.05% at our hospital. In patients without pelvic endometriosis or adenomyosis, 20.5% were presented with high CA125 >35 U/ml and the highest one was 93.4 U/ml. 92.1% of patients were diagnosed before surgery. 4 patients were administrated first in General Surgical Department with painless abdominal mass. Medication was adopted in 16 cases pre-operatively and 14 cases post-operatively.Results: The mean size of the resected mass was 4.2 cm, significantly larger than the estimation with palpation or ultrasonography, which was 0.8-1.2 cm (P=0.006, P<0.001). Pelvic endometriosis or adenomyosis was detected during the operation in 13 patients. One patient was diagnosed as atypical endometriosis by pathological examination in the beginning but transformed to be sarcoma finally. Ten patients recurred after surgery. 2 of them received medication and 5 of them received second operation.Conclusions: Ultrasonography can be used to evaluate the size of the mass and the infiltrative scope pre-operation. The serum CA125 is not specific for diagnosis of AWE. Complete eradication of the lesion with at least 1 cm beyond the edge of the mass is recommended as the primary treatment. Eradication should be considered also in recurrent cases. It may transform to malignant lesions after multiple recurrence.

  7. Clinical relationship between EDN-3 gene,EDNRB gene and Hirschsprung's disease

    Institute of Scientific and Technical Information of China (English)

    Xiang-Long Duan; Xian-Sheng Zhang; Guo-Wei Li

    2003-01-01

    AIM: To investigate the mutation of EDNRB gene and EDN3 gene in sporadic Hirschsprung's disease (HD) in Chinese population.METHODS: Genomic DNA was extracted from bowel tissues of 34 unrelated HD patients which were removed by surgery.Exon 3, 4, 6 of EDNRB gene and Exon 1, 2 of EDN-3 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP).RESULTS: EDNRB mutations were detected in 2 of the 13short-segment HD. One mutant was in the exon 3, the other was in the exon 6. EDN-3 mutation was detected in one of the 13 short-segment HD and in the exon 2. Both EDNRB and EDN-3 mutations were detected in one short-segment HD. No mutations were detected in the ordinary or longsegment HD.CONCLUSION: The mutations of EDNRB gene and EDN-3 gene are found in the short-segment HD of sporadic Hirschsprung's disease in Chinese population, which suggests that the EDNRB gene and EDN-3 gene play important roles in the pathogenesis of HD.

  8. Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.

    Science.gov (United States)

    Skeik, Nedaa; Rooke, Thom W; Davis, Mark Denis P; Davis, Dawn Marie R; Kalsi, Henna; Kurth, Ingo; Richardson, Randal C

    2012-02-01

    Erythromelalgia is a rare clinical syndrome characterized by intermittent heat, redness, swelling and pain more commonly affecting the lower extremities. Symptoms are mostly aggravated by warmth and are eased by a cold temperature. In some cases, symptoms can be very severe and disabling. Erythromelalgia can be classified as either familial or sporadic, with the familial form inherited in an autosomal dominant manner. Recently, there has been a lot of progress in studying Na(v)1.7 sodium channels (expressed mostly in the sympathetic and nociceptive small-diameter sensory neurons of the dorsal root ganglion) and different mutations affecting the encoding SCN9A gene that leads to channelopathies responsible for some disorders, including primary erythromelalgia. We present a severe case of progressive primary erythromelalgia caused by a new de novo heterozygous missense mutation (c.2623C>G) of the SCN9A gene which substitutes glutamine 875 by glutamic acid (p.Q875E). To our knowledge, this mutation has not been previously reported in the literature. We also provided a short literature review about erythromelalgia and Na(v) sodium channelopathies.

  9. ANMM4CBR: a case-based reasoning method for gene expression data classification.

    Science.gov (United States)

    Yao, Bangpeng; Li, Shao

    2010-01-06

    Accurate classification of microarray data is critical for successful clinical diagnosis and treatment. The "curse of dimensionality" problem and noise in the data, however, undermines the performance of many algorithms. In order to obtain a robust classifier, a novel Additive Nonparametric Margin Maximum for Case-Based Reasoning (ANMM4CBR) method is proposed in this article. ANMM4CBR employs a case-based reasoning (CBR) method for classification. CBR is a suitable paradigm for microarray analysis, where the rules that define the domain knowledge are difficult to obtain because usually only a small number of training samples are available. Moreover, in order to select the most informative genes, we propose to perform feature selection via additively optimizing a nonparametric margin maximum criterion, which is defined based on gene pre-selection and sample clustering. Our feature selection method is very robust to noise in the data. The effectiveness of our method is demonstrated on both simulated and real data sets. We show that the ANMM4CBR method performs better than some state-of-the-art methods such as support vector machine (SVM) and k nearest neighbor (kNN), especially when the data contains a high level of noise. The source code is attached as an additional file of this paper.

  10. ANMM4CBR: a case-based reasoning method for gene expression data classification

    Directory of Open Access Journals (Sweden)

    Li Shao

    2010-01-01

    Full Text Available Abstract Background Accurate classification of microarray data is critical for successful clinical diagnosis and treatment. The "curse of dimensionality" problem and noise in the data, however, undermines the performance of many algorithms. Method In order to obtain a robust classifier, a novel Additive Nonparametric Margin Maximum for Case-Based Reasoning (ANMM4CBR method is proposed in this article. ANMM4CBR employs a case-based reasoning (CBR method for classification. CBR is a suitable paradigm for microarray analysis, where the rules that define the domain knowledge are difficult to obtain because usually only a small number of training samples are available. Moreover, in order to select the most informative genes, we propose to perform feature selection via additively optimizing a nonparametric margin maximum criterion, which is defined based on gene pre-selection and sample clustering. Our feature selection method is very robust to noise in the data. Results The effectiveness of our method is demonstrated on both simulated and real data sets. We show that the ANMM4CBR method performs better than some state-of-the-art methods such as support vector machine (SVM and k nearest neighbor (kNN, especially when the data contains a high level of noise. Availability The source code is attached as an additional file of this paper.

  11. THE EXPRESSION AND CLINICAL VALUE OF APOPTOSIS CONTROL GENE Bcl-2 AND Bax IN BREAST CANCER

    Institute of Scientific and Technical Information of China (English)

    ZHENG Jun; YAO Zhen-xiang; ZHANG Jing

    1999-01-01

    Objective: To study the expression and clinical value of apoptosis control gene bcl-2 and bax in breast cancer.Methods: Protein bax and bcl-2 in 41 breast cancers obtained from operations in our hospital in 1996 were detected using ABC immunohistochemical stain assay and compared with 10 cases with normal breast tissues.Results: The positive rate of bax in normal breast tissue was 90% and in breast cancer was 59%, with a significant statistical difference between them (P<0.05), but there was no statistical difference in bcl-2 protein expression. Among the 41 breast cancer, the group with lymph node metastasis (21 cases) had obviously low bax expression (43%) and high bcl-2 expression (76%), showing significant difference to the group without lymph node metastasis (P<0.05).Conclusion: The antiapoptosis function of bcl-2 was stronger than bax in breast cancer. Protein bax and bcl-2 assay may be useful in understanding the biological behaviors of breast cancer.

  12. Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

    NARCIS (Netherlands)

    Sijmons, Rolf H.; Greenblatt, Marc S.; Genuardi, Maurizio

    2013-01-01

    Clinicians referring patients for genetic testing for Lynch syndrome will sooner or later receive results for DNA Mismatch Repair (MMR) genes reporting DNA changes that are unclear from a clinical point of view. These changes are referred to as variants of unknown, or unclear, clinical significance

  13. Gene expression profiling predicts clinical outcome of breast cancer

    NARCIS (Netherlands)

    Veer, L.J. van 't; Dai, H.; Vijver, H. van de; He, Y.D.; Hart, A.A.M.; Mao, M.; Peterse, H.L.; Kooy, K. van der; Marton, M.J.; Witteveen, A.T.; Schreiber, G.J.; Kerkhoven, R.M.; Roberts, C.; Linsley, P.S.; Bernards, R.A.; Friend, S.H.

    2002-01-01

    Breast cancer patients with the same stage of disease can have markedly different treatment responses and overall outcome. The strongest predictors for metastases (for example, lymph node status and histological grade) fail to classify accurately breast tumours according to their clinical behaviour.

  14. [Clinical analyses of the diagnosis and treatment of invasive fungal rhinosinusitis: report of 14 cases].

    Science.gov (United States)

    Shi, G G; Shi, L; Zhang, Z Y; Wan, Y Z; Li, B; Yu, L; Zhang, E P; Ju, H S; He, M Q; Ji, H Z

    2016-08-07

    Through the retrospective analysis of the clinical data in 14 cases of invasive fungal rhinosinusitis (IFRS), the clinical characteristics, diagnosis and treatment of this disease were evaluated. Fourteen clinically confirmed cases of IFRS since January 2008 to October 2015 were evaluated.collected, the clinical features, diagnosis, treatment and prognosis were analyzed to obtain a more comprehensive understanding for clinical reference. Fourteen patients were confirmed by pathological examination as IFRS, including 9 cases of aspergillus, 4 cases of mucor, and 1 case of rhinocerebral zygomycosis; including 5 cases of acute IFRS, 9 cases of chronic IFRS. All patients were treated with endoscopic surgery and intravenous antifungal therapy. Nine cases of chronic IFRS (including 1 case of mucor, 7 cases of aspergillus and 1 case of rhinocerebral zygomycosis) were cured, but the vision loss, diplopia or blindness, hard palate perforation remained. Five cases of acute IFRS included 3 cases of mucor and 2 cases of aspergillus. Among the 3 cases of mucor, 2 cases were died and 1 case was cured. Among the 2 cases of aspergillus, 1 patient was cured and the other patient died of electrolyte disorder after discharge from hospital. Patients with IFRS usually have diabetes. After the active surgical cleaning of lesion tissue and the systematic antifungal treatment with adequate dosage, these patients would have a better result. IFRS caused by mucor is ofen dangerous.

  15. Building prognostic models for breast cancer patients using clinical variables and hundreds of gene expression signatures

    Directory of Open Access Journals (Sweden)

    Liu Yufeng

    2011-01-01

    Full Text Available Abstract Background Multiple breast cancer gene expression profiles have been developed that appear to provide similar abilities to predict outcome and may outperform clinical-pathologic criteria; however, the extent to which seemingly disparate profiles provide additive prognostic information is not known, nor do we know whether prognostic profiles perform equally across clinically defined breast cancer subtypes. We evaluated whether combining the prognostic powers of standard breast cancer clinical variables with a large set of gene expression signatures could improve on our ability to predict patient outcomes. Methods Using clinical-pathological variables and a collection of 323 gene expression "modules", including 115 previously published signatures, we build multivariate Cox proportional hazards models using a dataset of 550 node-negative systemically untreated breast cancer patients. Models predictive of pathological complete response (pCR to neoadjuvant chemotherapy were also built using this approach. Results We identified statistically significant prognostic models for relapse-free survival (RFS at 7 years for the entire population, and for the subgroups of patients with ER-positive, or Luminal tumors. Furthermore, we found that combined models that included both clinical and genomic parameters improved prognostication compared with models with either clinical or genomic variables alone. Finally, we were able to build statistically significant combined models for pathological complete response (pCR predictions for the entire population. Conclusions Integration of gene expression signatures and clinical-pathological factors is an improved method over either variable type alone. Highly prognostic models could be created when using all patients, and for the subset of patients with lymph node-negative and ER-positive breast cancers. Other variables beyond gene expression and clinical-pathological variables, like gene mutation status or DNA

  16. Comparative analysis of agr groups and virulence genes among subclinical and clinical mastitis Staphylococcus aureus isolates from sheep flocks of the Northeast of Brazil.

    Science.gov (United States)

    de Almeida, Lara M; de Almeida, Mayra Zilta P R B; de Mendonça, Carla L; Mamizuka, Elsa M

    2013-01-01

    Staphylococcus aureus is one of the most frequent mastitis causative agents in small ruminants. The expression of most virulence genes of S. aureus is controlled by an accessory gene regulator (agr) locus. This study aimed to ascertain the prevalence of the different agr groups and to evaluate the occurrence of encoding genes for cytotoxin, adhesins and toxins with superantigen activity in S. aureus isolates from milk of ewes with clinical and subclinical mastitis in sheep flocks raised for meat production The agr groups I and II were identified in both cases of clinical and subclinical mastitis. Neither the arg groups III and IV nor negative agr were found. The presence of cflA gene was identified in 100% of the isolates. The frequency of hla and lukE-D genes was high - 77.3 and 82.8%, respectively and all isolates from clinical mastitis presented these genes. The sec gene, either associated to tst gene or not, was identified only in isolates from subclinical mastitis. None of the following genes were identified: bbp, ebpS, cna, fnbB, icaA, icaD, bap, hlg, lukM-lukF-PV and se-a-b-d-e.

  17. Clinical and tomography evolution of frontal osteomyelitis: Case report

    Directory of Open Access Journals (Sweden)

    Raquel Crisóstomo Lima Verde1, , , , ,

    2012-01-01

    Full Text Available Introduction: The frontal osteomyelitis is a complication of rhinosinusitis which can evolve to acute or chronicle. There is inflammatory reaction by the increasing of intraosseous pressure, ischemia and local necrosis, leading to bone abscess formation. There is no drainage, it will occur detachment of the periosteum, soft tissue invasion and worsening of ischemia with subsequent bone sequestration. Method: Case report of an inpatient in an emergency service of another institution by the complication of rhinosinusitis who was referred to the Otorhinolaryngology Service of University Hospital Professor Edgard Santos of Federal University of Bahia. Case Report: Male patient, 16 years-old, presented himself to the ER of another institution with cephalea, vomits and fever which evolved to periorbital edema and frontal to the left, moving to palpebral fluctuation and frontal. Subjected to frontal and palpebral abscess drainage, with broad-spectrum antibiotic therapy with no improvement. He was referred to our service keeping edema and fluctuation in region frontal and light edema in left periorbital region. The nasal endoscopy showed edema in meatus to the left and the computerized tomography showed fronto-ethmoid sinusitis to the left and signs of frontal osteomyelitis with bone sequestration and epidural empyema. Subjected to sinasal endoscopy surgery, external Access or removal of the frontal one affected and epidural empyema drainage. Evolved to the remission of the disease. Final Considerations: Failure in the diagnosis and rhinosinusitis complication treatment can lead to sequalae and fatal complications. The diagnosis of the frontal osteomyelitis is confirmed by the clinical suspicion and confirmed by radiological examination. The surgery is indicated when the evolution is insidious, there is bone sequestration and intracranial complications.

  18. MULTIFOCAL BILATERAL METACHRONOUS BREAST CANCER IN MAN. CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    E. K. Saribekyan

    2015-01-01

    Full Text Available Multifocal malignant tumors (MMT represent a comprehensive and multifaceted problem of clinical oncology.Today, as far as observations are accumulated, there are attempts to determine a real incidence rate of multifocal tumors. Research of MMT problem becomes more and more actual and significant in oncology. Several dozen thousands of MMT observations have been described all over the world for the recent 30 years. There is a stable trend towards the increase of the number of patients with such pathology. This is primarily concerned with the improvement of diagnostics, medical treatment and increased expectation of life.The increase in incidence of MMT is due to such factors as increased average expectation of life, increased intensity of carcinogenic effects, urbanization, accumulation of hereditary loading and improved diagnostics of oncologic diseases. Detection and record of such pathology are based first on detection of simultaneous tumors, second – on diagnostics of tumor and retrospective determination according to life record data of the first neoplasm, third – on determination of further tumor at regular follow-up, which requires prolonged and high quality examination of the patients.MMT most commonly develop in patients elder than 50 y. o., even in elder age in men than in women. The article describes a case of bilateral breast cancer in man. Clinicopathologic and immunohistochemical characteristics of the tumor were studied, the genetic polymorphisms were investigated by the method of polymerase chain reaction, associated with the risk of breast cancer development, genetic analysis of BRCA1 and BRCA2, blood cancer markers was done. Full equivalence of clinicopathologic and biological properties of tumor of the right and left mammae, witnessing the common etiology and pathogenesis of neoplastic process, was established. Each case of bilateral breast cancer in men shall be studied with particular care and referred in international

  19. The Clinical Study on 39 Cases of Subclinical Hypothyroidism

    Energy Technology Data Exchange (ETDEWEB)

    Yu, Cheol Jae; Ahn, Weon Jeon; Lee, Houn Young; Ro, Heung Kyu [Chungnam National University College of Medicine, Daejeon (Korea, Republic of)

    1986-03-15

    Subclinical hypothyroidism can be defined as an asymptomatic state in which a reduction in thyroid activity has been compensated by an increased TSH output to maintain an euthyroid state. We analysed clinical features, laboratory data, and pathologic findings in 39 cases of subclinical hypothyroidism who were diagnosed at the Dept. of Internal Medicine, Chungnam National University Hospital from Aug. 1984 to June, 1985. 1) The age distribution was from sixteen to sixty-nine and mean age was 34.8. Peak incidence was in the 4th decade and 3rd, 5th, 6th decade in order. 2) The sex distribution showed female preponderance with a ratio of 18.5 to 1. 3) The major presenting manifestations were nonspecific ones such as fatigue, indigestion, and anorexia. 4) Physical examination revealed diffuse goiter in 47.6%. Major abnormalities were no gross abnormality (30.9%), nodular goiter and facial edema. 5) There was no significant difference of the basal serum T3 and T4 concentrations between subclinical hypothyroidism and normal controls (p>0.05). 6) The basal serum TSH concentration of subclinical hypothyroidism (32.61+-14.95 muU/ml) was significantly higher than that of normal controls (3.92+-1.05 muU/ml) (p<0.005). 7) Microsomal antibody was detected in 80.6% and thyroglobulin antibody was detected in 30%. 8) The pathologic findings in 26 cases revealed Hashimoto's thyroiditis in 76.9% (lymphocytic type, 34.6%; oxyphilic type, 26.9%; fibrotic type, 15.4%). The others were adenomatous goiter (15.4%), adenomatous carcinoma (3.8%) and subacute thyroiditis (3.8%).

  20. Neuromyotonia: Clinical profile of twenty cases from northwest India

    Directory of Open Access Journals (Sweden)

    Panagariya Ashok

    2006-01-01

    Full Text Available Objectives: We are presenting 20 cases of the intriguing clinico-electromyographic entity, now considered a potassium channel disorder, Neuromyotonia. Our experience with the clinical manifestations, underlying abnormalities and response to various therapies is documented. Materials and Methods: Patients with diffuse pain or undulating muscle movements, with or without stiffness were sent for electromyographic and further studies. Patients with "neuromyotonic discharges" were included after exclusion of hypocalcaemia. Results: Our cases included 19 males and one female of age group 15 to 52 years, the majority being between 30 to 45 years. Undulating movements were seen in 19, of which two had focal twitching. Muscle stiffness was a complaint in five; pain was the chief presenting complaint of 19, which started in the calf in all. Irritability, insomnia and a peculiar worried pinched face were present in 12 patients. CSF was abnormal with mildly raised protein in eight. Curiously, 11 of these patients had taken ayurvedic treatment for various complaints in the preceding one month. Bell′s palsy was associated in four, peripheral neuropathy in two and residual poliomyelitis in two. Electromyographic evidence of spontaneous activity in the form of "neuromyotonic discharges" was seen in all. Antibodies to voltage gated potassium channels was tested in one patient and was positive (titer was 1028 pM. Membrane stabilizers (e.g., phenytoin sodium in our experience did not provide adequate rapid relief; we tried high-dose intravenous Methylprednisolone in 19 with significant amelioration of complaints. One patient was offered intravenous immunoglobulin, to which he responded. Conclusions: Neuromyotonia is a heterogeneous condition and can present in varied ways including diffuse nonspecific pain. This uncommon condition is potentially treatable and can be picked up with high index of suspicion.

  1. Clinical features and gene analysis in Korean patients with early-onset Parkinson disease.

    Science.gov (United States)

    Chung, Eun Joo; Ki, Chang-Seok; Lee, Won Yong; Kim, In-Suk; Kim, Ji-Youn

    2006-08-01

    Systematic analysis of clinical features and gene mutations has not been performed in Korean patients with early-onset Parkinson disease (PD). To investigate the clinical characteristics and genetic background of Korean patients with early-onset PD. Clinical and genetic study. University hospital. Ninety-four patients with early-onset PD (mean +/- SD age at onset, 39.8 +/- 7.3 years) of 1100 patients with PD. Analysis of clinical characteristics and mutation analysis of the parkin and PTEN-induced kinase (PINK1) genes by direct sequencing and gene-dosage analysis using the multiplex ligation-dependent probe amplification technique. The correlation between age at onset and clinical characteristics and the clinical features of patients with onset before age 30 years vs patients with onset after age 30 years. Because age at onset was younger, levodopa-induced dyskinesia and off-dystonia were more frequently observed (P=.008). Patients affected before age 30 years showed more frequent levodopa-induced dyskinesia and off-dystonia (P=.002). We identified 3 patients (5%) with parkin gene mutations but none with the PINK1 mutation. Earlier onset of levodopa-induced dyskinesia and off-dystonia were characteristic features of early-onset PD, especially before an onset age of 30 years. However, parkin gene mutations were less frequent in these patients than in Japanese groups reported elsewhere.

  2. Superior cross-species reference genes: a blueberry case study.

    Directory of Open Access Journals (Sweden)

    Jose V Die

    Full Text Available The advent of affordable Next Generation Sequencing technologies has had major impact on studies of many crop species, where access to genomic technologies and genome-scale data sets has been extremely limited until now. The recent development of genomic resources in blueberry will enable the application of high throughput gene expression approaches that should relatively quickly increase our understanding of blueberry physiology. These studies, however, require a highly accurate and robust workflow and make necessary the identification of reference genes with high expression stability for correct target gene normalization. To create a set of superior reference genes for blueberry expression analyses, we mined a publicly available transcriptome data set from blueberry for orthologs to a set of Arabidopsis genes that showed the most stable expression in a developmental series. In total, the expression stability of 13 putative reference genes was evaluated by qPCR and a set of new references with high stability values across a developmental series in fruits and floral buds of blueberry were identified. We also demonstrated the need to use at least two, preferably three, reference genes to avoid inconsistencies in results, even when superior reference genes are used. The new references identified here provide a valuable resource for accurate normalization of gene expression in Vaccinium spp. and may be useful for other members of the Ericaceae family as well.

  3. Superior cross-species reference genes: a blueberry case study.

    Science.gov (United States)

    Die, Jose V; Rowland, Lisa J

    2013-01-01

    The advent of affordable Next Generation Sequencing technologies has had major impact on studies of many crop species, where access to genomic technologies and genome-scale data sets has been extremely limited until now. The recent development of genomic resources in blueberry will enable the application of high throughput gene expression approaches that should relatively quickly increase our understanding of blueberry physiology. These studies, however, require a highly accurate and robust workflow and make necessary the identification of reference genes with high expression stability for correct target gene normalization. To create a set of superior reference genes for blueberry expression analyses, we mined a publicly available transcriptome data set from blueberry for orthologs to a set of Arabidopsis genes that showed the most stable expression in a developmental series. In total, the expression stability of 13 putative reference genes was evaluated by qPCR and a set of new references with high stability values across a developmental series in fruits and floral buds of blueberry were identified. We also demonstrated the need to use at least two, preferably three, reference genes to avoid inconsistencies in results, even when superior reference genes are used. The new references identified here provide a valuable resource for accurate normalization of gene expression in Vaccinium spp. and may be useful for other members of the Ericaceae family as well.

  4. The clinical diagnosis and treatment about 22 cases of limbic encephalitis were retrospectively analyzed.

    Science.gov (United States)

    Zang, Weiping; Zhang, Zhijun; Feng, Laihui; Zhang, Ailing

    2016-03-01

    To summarize and analyze the clinical characteristics and treatment of limbic encephalitis, in order to provide the basis for clinical work. We retrospectively analyzed the clinical characteristics, magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) and self immune antibody results of 22 patients with limbic encephalitis in Zheng zhou people's Hospital from March 2013 to May 2014. 22 cases of patients with psychiatric disturbance, such as hallucinations being typical clinical manifestations: Memory decline in 18 cases: Seizures in 13 patients: Altered level of consciousness in 10 cases; Movement disorders in 7 cases and 9 cases with febrile.14 cases have relieved after treating with antiviral and immunosuppressive therapy, 5 cases left memory decline, 2 patients left overwhelmingly excited, 1 cases of seizures. The clinical symptoms of patients with limbic encephalitis are complicated changeable and unspecific. so earlier diagnosis and treatment are very important for the prognosis of patients.

  5. What kinds of cases do paediatricians refer to clinical ethics? Insights from 184 case referrals at an Australian paediatric hospital.

    Science.gov (United States)

    McDougall, Rosalind J; Notini, Lauren

    2016-09-01

    Clinical ethics has been developing in paediatric healthcare for several decades. However, information about how paediatricians use clinical ethics case consultation services is extremely limited. In this project, we analysed a large set of case records from the clinical ethics service of one paediatric hospital in Australia. We applied a paediatric-specific typology to the case referrals, based on the triadic doctor-patient-parent relationship. We reviewed the 184 cases referred to the service in the period 2005-2014, noting features including the type of case, the referring department(s) and the patient's age at referral. The two most common types of referral involved clinician uncertainty about the appropriate care pathway for the child (26% of total referrals) and situations where the child's parents disagreed with the doctors' recommendations for the child's care (22% of total referrals). Referrals came from 28 different departments. Cancer, cardiology/cardiac surgery and general medicine referred the highest numbers of cases. The most common patient age groups were children under 1, and 14-15 years old. For three controversial areas of paediatric healthcare, clinicians had initiated processes of routine review of cases by the clinical ethics service. These insights into the way in which one very active paediatric clinical ethics service is used further our understanding of the work of paediatric clinical ethics, particularly the kinds of ethically challenging cases that paediatricians view as appropriate to refer for clinical ethics support.

  6. Bleaching in vital deciduous teeth – a clinical case

    Directory of Open Access Journals (Sweden)

    José Carlos Pettorossi Imparato

    2008-01-01

    Full Text Available There has been growing concern and search for esthetic beauty and harmony over the last few years. This concern does not form part ofadults’ lives only, but also of children’s. Among the substances used for bleaching dental structures, the most outstanding are those whoseactive principle is hydrogen peroxide-based . The present study reports a clinical case of a 4-year-old girl that suffered trauma of tooth 61 with consequent color alteration, but with no alteration in pulp vitality. The main complaint by the patient and her guardians concerned esthetics, therefore external dental bleaching was performed, using Opalescence Xtra® (Ultradent, in two sessions with an interval of one month between them. External in office bleaching was the treatment of choice, due to the tooth vitality, patient’s age and presence of only one darkened tooth. After the bleaching treatments an improvement in the darkening was observed, and both the child and her guardians were satisfied with the esthetic result.

  7. Postradiation sarcoma of bone: review of 78 Mayo Clinic cases

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    Weatherby, R.P.; Dahlin, D.C.; Ivins, J.C.

    1981-05-01

    Postradiation sarcoma of bone is an uncommon but serious sequela of radiation therapy. Seventy-eight Mayo Clinic patients have been treated for sarcomas arising in irradiated bones. They received their initial radiotherapy for a wide variety of nonneoplastic and neoplastic conditions, both benign and malignant. Thirty-five sarcomas arose in bone that was normal at the time of radiotherapy, and 43 arose in irradiated preexisting osseous lesions. The latent period between radiotherapy and diagnosis of sarcoma averaged 14.3 years. Ninety percent of the postradiation sarcomas were either osteosarcomas or fibrosarcomas; chondrosarcoma, malignant (fibrous) histiocytoma, malignant lymphoma, Ewing's tumor, and metastasizing chondroblastoma also occurred. Prompt radical surgery, when feasible, is usually the treatment of choice for the sarcoma. About 30% of patients with sarcomas of the extremities or craniofacial bones survived 5 years without recurrence; there were no disease-free survivors among patients with tumors of the vertebral column, pelvis, or shoulder girdle. The low risk of sarcoma following radiotherapy for the treatment of cancer should not be a contraindication to its use in these patients; however, radiation therapy for benign bone tumors should be reserved for lesions that are not amenable to surgical treatment. An unusual case is also reported herein in which a fibrosarcoma was discovered in the humerus of a patient who had received radiotherapy 55 years previously for a verified osteosarcoma in the same site.

  8. Sheehan syndrome: clinical and laboratory evaluation of 20 cases.

    Science.gov (United States)

    Ozkan, Yusuf; Colak, Ramis

    2005-06-01

    Sheehan syndrome (SS) or post-partum pituitary necrosis is a pituitary insufficiency secondary to excessive post-partum blood losses. SS is a very significant cause of maternal morbidity and mortality in developing countries although it is a rarity in developed countries in which obstetrical care has been improved. In this study, we reviewed 20 cases retrospectively who were diagnosed as SS in our clinic. The patients aged 40 to 65 years with a mean age of 51.12 +/- 9.44 years (mean +/- SD). Time to make a definitive diagnosis of the disease ranged between 5 and 25 years with a mean of 16.35 +/- 4.74 years. Three of our patient (15%) had a previous diagnosis of SS. Three patients (15%) were referred to emergency service for hypoglycemia, three patients (15%) for hypothyroidism and one patient (5%) for hyponatremia. Dynamic examination of the pituitary revealed GH, Prolactin, FSH, TSH and ACTH insufficiency in all of the patients. One of our patients had a sufficient LH response to LHRH challenge. All of the patients were imaged with pituitary MRI. Eleven patients had empty sella and 9 patients had partial empty sella. SS is still a common problem in our country, especially in rural areas. Considering the duration of disease, important delays occur in diagnosis and treatment of the disease.

  9. Bovine anaplasmosis in Turkey: First laboratory confirmed clinical cases caused by Anaplasma phagocytophilum.

    Science.gov (United States)

    Aktas, Munir; Özübek, Sezayi

    2015-08-05

    Anaplasma species are obligate intracellular rickettsial pathogens that affect the health of humans and other animals. Clinical cases of anaplasmosis caused by Anaplasma phagocytophilum were evaluated, and the frequency of bovine Anaplasma species was determined in cattle. Blood samples and thin blood smears were collected from 10 cattle exhibiting clinical signs of tick-borne fever. In addition, blood samples were collected from 123 apparently healthy cattle from the same area. DNA was screened by reverse line blot assay for the presence of the hypervariable V1 region of the 16S rRNA gene of Anaplasma/Ehrlichia species. Intracytoplasmic inclusion bodies of A. phagocytophilum were observed in neutrophils of 6 sick animals. Parasitemia ranged from 0.2 to 1.6% in individual slides. Reverse line blot showed 45.1% (60/133) of the sampled cattle to be positive for one or more of five Anaplasma species. The frequency of single infections was 20.3% (27/133), while mixed infections were found in 24.8% (33/133) of samples with six different combinations of species and a maximum of four pathogens detected. A. phagocytophilum was the most prevalent (41/133, 30.8%) followed by Anaplasma marginale (25/133, 18.8%), Anaplasma centrale (24/133, 18%), Ehrlichia sp. strain Omatjenne (18/133, 13.5%) and Anaplasma bovis (1/133, 0.7%). This is the first report of A. bovis in a cow from Turkey. This is also the first report of clinical cases caused by A. phagocytophilum in cattle from the country. Therefore, A. phagocytophilum should be taken into account as differential diagnosis in cases of high fever and anorexia in pastured animals. Copyright © 2015 Elsevier B.V. All rights reserved.

  10. [Expression of SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia and its clinical significance].

    Science.gov (United States)

    Dai, Hai-Ping; Wang, Qian; Wu, Li-Li; Ping, Na-Na; Wu, Chun-Xiao; Xie, Jun-Dan; Pan, Jin-Lan; Xue, Yong-Quan; Wu, De-Pei; Chen, Su-Ning

    2012-10-01

    This study was aimed to investigate the occurrence and clinical significance of the SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia (T-ALL), analyse clinical and biological characteristics in this disease. RT-PCR was used to detect the expression of SET-NUP214 fusion gene in 58 T-ALL cases. Interphase FISH and Array-CGH were used to detect the deletion of 9q34. Direct sequencing was applied to detect mutations of PHF6 and NOTCH1. The results showed that 6 out of 58 T-ALL cases (10.3%) were detected to have the SET-NUP214 fusion gene by RT-PCR. Besides T-lineage antigens, expression of CD13 and(or) CD33 were detected in all the 6 cases. Deletions of 9q34 were detected in 4 out of the 6 patients by FISH. Array-CGH results of 3 SET-NUP214 positive T-ALL patients confirmed that this fusion gene was resulted from a cryptic deletion of 9q34.11q34.13. PHF6 and NOTCH1 gene mutations were found in 4 and 5 out of 6 SET-NUP214 positive T-ALL patients, respectively. It is concluded that SET-NUP214 fusion gene is often resulted from del(9)(q34). PHF6 and NOTCH1 mutations may be potential leukemogenic event in SET-NUP214 fusion gene.

  11. Case Specificity of Standardized-Patient Examinations: Consistency of Performance on Components of Clinical Competence within and between Cases.

    Science.gov (United States)

    Colliver, Jerry A.; And Others

    1990-01-01

    Standardized patient case problems were administered to approximately 280 final year medical students. Results indicate that performance on a given component of clinical competence shows less consistency when measured on different cases than does performance on different components measured on the same case. (TJH)

  12. Antimicrobial susceptibility and antibiotic resistance gene transfer analysis of foodborne, clinical, and environmental Listeria spp. isolates including Listeria monocytogenes.

    Science.gov (United States)

    Bertsch, David; Muelli, Mirjam; Weller, Monika; Uruty, Anaïs; Lacroix, Christophe; Meile, Leo

    2014-02-01

    The aims of this study were to assess antibiotic resistance pheno- and genotypes in foodborne, clinical, and environmental Listeria isolates, as well as to elucidate the horizontal gene transfer potential of detected resistance genes. A small fraction of in total 524 Listeria spp. isolates (3.1%) displayed acquired antibiotic resistance mainly to tetracycline (n = 11), but also to clindamycin (n = 4) and trimethoprim (n = 3), which was genotypically confirmed. In two cases, a tetracycline resistance phenotype was observed together with a trimethoprim resistance phenotype, namely in a clinical L. monocytogenes strain and in a foodborne L. innocua isolate. Depending on the applied guidelines, a differing number of isolates (n = 2 or n = 20) showed values for ampicillin that are on the edge between intermediate susceptibility and resistance. Transferability of the antibiotic resistance genes from the Listeria donors, elucidated in vitro by filter matings, was demonstrated for genes located on transposons of the Tn916 family and for an unknown clindamycin resistance determinant. Transfer rates of up to 10(-5) transconjugants per donor were obtained with a L. monocytogenes recipient and up to 10(-7) with an Enterococcus faecalis recipient, respectively. Although the prevalence of acquired antibiotic resistance in Listeria isolates from this study was rather low, the transferability of these resistances enables further spread in the future. This endorses the importance of surveillance of L. monocytogenes and other Listeria spp. in terms of antibiotic susceptibility.

  13. Gene Electrotransfer to Skin; Review of Existing Literature and Clinical Perspectives

    DEFF Research Database (Denmark)

    Gothelf, A.; Gehl, Julie

    2010-01-01

    Gene electrotransfer, which designates the combination of gene transfer and electroporation, is a non-viral means for transfecting genes into cells and tissues. It is a safe and efficient method and reports regarding the use of this technique in a variety of animal models and organs have been...... to now more than 40 papers have been published in which gene electrotransfer was the technique used for gene transfection to skin in vivo. The aim of this review is to summarize which plasmids were injected and the electrical parameters applied. Furthermore an overview of the clinical perspectives...... published in the literature. We find that gene electrotransfer to skin is of particular interest; not only due to the easy accessibility of this organ, which renders both treatment and evaluation feasible, but also the capability of the skin to produce transgenes and elicit immunological responses. Up...

  14. Gene Electrotransfer to Skin; Review of Existing Literature and Clinical Perspectives

    DEFF Research Database (Denmark)

    Gothelf, A.; Gehl, Julie

    2010-01-01

    to now more than 40 papers have been published in which gene electrotransfer was the technique used for gene transfection to skin in vivo. The aim of this review is to summarize which plasmids were injected and the electrical parameters applied. Furthermore an overview of the clinical perspectives......Gene electrotransfer, which designates the combination of gene transfer and electroporation, is a non-viral means for transfecting genes into cells and tissues. It is a safe and efficient method and reports regarding the use of this technique in a variety of animal models and organs have been...... published in the literature. We find that gene electrotransfer to skin is of particular interest; not only due to the easy accessibility of this organ, which renders both treatment and evaluation feasible, but also the capability of the skin to produce transgenes and elicit immunological responses. Up...

  15. Human cytomegalovirus UL145 gene is highly conserved among clinical strains

    Indian Academy of Sciences (India)

    Zhengrong Sun; Ying Lu; Qiang Ruan; Yaohua Ji; Rong He; Ying Qi; Yanping Ma; Yujing Huang

    2007-09-01

    Human cytomegalovirus (HCMV), a ubiquitous human pathogen, is the leading cause of birth defects in newborns. A region (referred to as UL/b′) present in the Toledo strain of HCMV and low-passage clinical isolates) contains 22 additional genes, which are absent in the highly passaged laboratory strain AD169. One of these genes, UL145 open reading frame (ORF), is located between the highly variable genes UL144 and UL146. To assess the structure of the UL145 gene, the UL145 ORF was amplified by PCR and sequenced from 16 low-passage clinical isolates and 15 non-passage strains from suspected congenitally infected infants. Nine UL145 sequences previously published in the GenBank were used for sequence comparison. The identities of the gene and the similarities of its putative protein among all strains were 95.9–100% and 96.6–100%, respectively. The post-translational modification motifs of the UL145 putative protein in clinical strains were conserved, comprising the protein kinase C phosphorylation motif (PKC) and casein kinase II phosphorylation site (CK-II). We conclude that the structure of the UL145 gene and its putative protein are relatively conserved among clinical strains, irrespective of whether the strains come from patients with different manifestations, from different areas of the world, or were passaged or not in human embryonic lung fibroblast (HELF) cells.

  16. Progress and prospects of gene therapy clinical trials for the muscular dystrophies.

    Science.gov (United States)

    Bengtsson, Niclas E; Seto, Jane T; Hall, John K; Chamberlain, Jeffrey S; Odom, Guy L

    2016-04-15

    Clinical trials represent a critical avenue for new treatment development, where early phases (I, I/II) are designed to test safety and effectiveness of new therapeutics or diagnostic indicators. A number of recent advances have spurred renewed optimism toward initiating clinical trials and developing refined therapies for the muscular dystrophies (MD's) and other myogenic disorders. MD's encompass a heterogeneous group of degenerative disorders often characterized by progressive muscle weakness and fragility. Many of these diseases result from mutations in genes encoding proteins of the dystrophin-glycoprotein complex (DGC). The most common and severe form among children is Duchenne muscular dystrophy, caused by mutations in the dystrophin gene, with an average life expectancy around 25 years of age. Another group of MD's referred to as the limb-girdle muscular dystrophies (LGMDs) can affect boys or girls, with different types caused by mutations in different genes. Mutation of the α-sarcoglycan gene, also a DGC component, causes LGMD2D and represents the most common form of LGMD. Early preclinical and clinical trial findings support the feasibility of gene therapy via recombinant adeno-associated viral vectors as a viable treatment approach for many MDs. In this mini-review, we present an overview of recent progress in clinical gene therapy trials of the MD's and touch upon promising preclinical advances.

  17. A Rare Case of Adrenal Pheochromocytoma with Unusual Clinical and Biochemical Presentation: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Waad-Allah S. Mula-Abed

    2015-09-01

    Full Text Available A 50-year-old Omani woman presented to the Outpatient Clinic, Royal Hospital, Oman with right upper abdominal pain and backache that had lasted 10 days. She had no palpitation, sweating, or hypertension (blood pressure 122/78mmHg. The patient’s history revealed that she had a similar incidence of abdominal pain two months prior, which was a "dull ache" in nature and somewhat associated with headache. The pain was relieved using a mild analgesic drug. Abdominal ultrasonography showed a right adrenal mass, and both computed tomography and magnetic resonance imaging of the adrenal glands confirmed a right adrenal mass consistent with adrenal pheochromocytoma. However, clinical biochemistry tests revealed normal levels of plasma catecholamines (dopamine, norepinephrine, and epinephrine and metanephrine, which are unusual findings in adrenal pheochromocytoma. Meanwhile, the patient had markedly raised plasma normetanephrine (10-fold which, together with the normal metanephrine, constitutes a metabolic profile that is compatible with extra-adrenal pheochromocytoma. The patient also had markedly raised chromogranin A (16-fold, consistent with the presence of a neuroendocrine tumor. Laparoscopic right adrenalectomy was done and the adrenal tumor was excised and retrieved in total. Histopathology and immunohistochemistry confirmed the diagnosis of adrenal pheochromocytoma; the tumor cells being positive for chromogranin, synaptophysin, and S-100 protein. Following surgery, the patient did well and showed full recovery at follow-up after three months. Molecular genetic testing showed no pathogenic mutation in pheochromocytoma genes: MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL, and PRKAR1A. A review of the literature was conducted to identify the pathophysiology and any previous reports of such case. To our knowledge, this is the first report in Oman of the extremely rare entity of pheochromocytoma with an unusual clinical and biochemical scenario.

  18. Clinical value of prognosis gene expression signatures in colorectal cancer: a systematic review.

    Directory of Open Access Journals (Sweden)

    Rebeca Sanz-Pamplona

    Full Text Available INTRODUCTION: The traditional staging system is inadequate to identify those patients with stage II colorectal cancer (CRC at high risk of recurrence or with stage III CRC at low risk. A number of gene expression signatures to predict CRC prognosis have been proposed, but none is routinely used in the clinic. The aim of this work was to assess the prediction ability and potential clinical usefulness of these signatures in a series of independent datasets. METHODS: A literature review identified 31 gene expression signatures that used gene expression data to predict prognosis in CRC tissue. The search was based on the PubMed database and was restricted to papers published from January 2004 to December 2011. Eleven CRC gene expression datasets with outcome information were identified and downloaded from public repositories. Random Forest classifier was used to build predictors from the gene lists. Matthews correlation coefficient was chosen as a measure of classification accuracy and its associated p-value was used to assess association with prognosis. For clinical usefulness evaluation, positive and negative post-tests probabilities were computed in stage II and III samples. RESULTS: Five gene signatures showed significant association with prognosis and provided reasonable prediction accuracy in their own training datasets. Nevertheless, all signatures showed low reproducibility in independent data. Stratified analyses by stage or microsatellite instability status showed significant association but limited discrimination ability, especially in stage II tumors. From a clinical perspective, the most predictive signatures showed a minor but significant improvement over the classical staging system. CONCLUSIONS: The published signatures show low prediction accuracy but moderate clinical usefulness. Although gene expression data may inform prognosis, better strategies for signature validation are needed to encourage their widespread use in the clinic.

  19. Characterization of Genetic Structures of the QepA3 Gene in Clinical Isolates of Enterobacteriaceae

    Directory of Open Access Journals (Sweden)

    Dongguo eWang

    2015-10-01

    Full Text Available QepA is one of the genes that confer quinolone resistance in bacteria. The aim of this study was to analyze the genetic structures of plasmids that carry a qepA3, a recently discovered allele of qepA in Enterobacteriaceae clinical isolates. 656 non-redundant Enterobacteriaceae clinical isolates were screened for the qepA3 gene and five isolated were identified to carry the gene. Plasmids were isolated from these isolates and were found to increase antibiotic resistance once the plasmids were transferred to Escherichia coli. These plasmids were subcloned and sequenced to analyze the genetic structures surrounding the the qepA3 gene. The results showed that the five plasmids had different genetic structures; one of qepA3-containning isolates had either the blaCTX-M-14 or blaTEM-12 gene in place of the blaTEM-1 gene. The structures of both pKP3764 and pECL3786 have not been previously described. In comparison with pHPA, there were a number of changes in DNA sequences up- and down-stream the qepA3 gene. These findings provide better understanding of the genetic variations in qepA3 and would be useful for diagnosis and control of quinolone resistance in clinical settings.

  20. Characterization of genetic structures of the QepA3 gene in clinical isolates of Enterobacteriaceae

    Science.gov (United States)

    Wang, Dongguo; Huang, Xitian; Chen, Jiayu; Mou, Yonghua; Li, Haijun; Yang, Liqin

    2015-01-01

    QepA is one of the genes that confer quinolone resistance in bacteria. The aim of this study was to analyze the genetic structures of plasmids that carry a qepA3, a recently discovered allele of qepA in Enterobacteriaceae clinical isolates. 656 non-redundant Enterobacteriaceae clinical isolates were screened for the qepA3 gene and five isolates were identified to carry the gene. Plasmids were isolated from these isolates and were found to increase antibiotic resistance once the plasmids were transferred to Escherichia coli. These plasmids were subcloned and sequenced to analyze the genetic structures surrounding the qepA3 gene. The results showed that the five plasmids had different genetic structures; two of the qepA3-containning isolates had either the blaCTX-M-14 or blaTEM-12 gene instead of the blaTEM-1 gene. The structures of both pKP3764 and pECL3786 have not been previously described. In comparison with pHPA, there were a number of changes in DNA sequences up- and down-stream of the qepA3 gene. These findings provide better understanding of the genetic variations in qepA3 and would be useful for diagnosis and control of quinolone resistance in clinical settings. PMID:26528280

  1. Genetic variation in Micro-RNA genes of host genome affects clinical manifestation of symptomatic Human Cytomegalovirus infection.

    Science.gov (United States)

    Misra, Maneesh Kumar; Mishra, Aditi; Pandey, Shashi Kant; Kapoor, Rakesh; Sharma, Raj Kumar; Agrawal, Suraksha

    2015-10-01

    Micro-RNAs are implicated in various physiological and pathologic processes. In this study, we tested whether Micro-RNA gene variants of host-genome affect clinical manifestation of symptomatic HCMV infection. HCMV infection was detected by fluorescent PCR and immuno-histochemistry. The detection of genetic variants of four studied Micro-RNA tag-SNPs was done through PCR-RFLP assay and validated with DNA sequencing. We observed an increased risk ranged from 3-folds to 5-folds among symptomatic HCMV cases for mutant genotype of rs2910164 (crude OR=3.11, p=0.009 and adjusted OR=3.25, p=0.007), rs11614913 (crude OR=3.20, p=0.006 and adjusted OR=3.48, p=0.004) and rs3746444 (crude OR=4.91, p=0.002 and adjusted OR=5.28, p=0.002) tag-SNPs. Interestingly, all the tag-SNPs that were significant after multiple comparisons at a FDR of 5% in symptomatic HCMV cases remained significant even after bootstrap analysis, providing internal validation to these results. Multifactor Dimensionality Reduction (MDR) analysis revealed 5-folds increased risk for symptomatic HCMV cases under the four-factor model (rs2910164, rs2292832, rs11614913 and rs3746444). These results suggest that Micro-RNA gene variants of host-genome may affect clinical manifestation of symptomatic HCMV infection. Copyright © 2015 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  2. Association of interleukin genes polymorphism with asthma susceptibility in Indian children: a case-control study.

    Science.gov (United States)

    Dixit, Pratibha; Awasthi, Shally; Agarwal, Sarita

    2015-01-01

    Interleukins (IL) 4 and 13 genes and their receptors (R) are the key cytokines which amplify inflammatory reactions in asthma. This study aimed to investigate the association of IL 4, 4 R, 13 and 13 R genes polymorphism with asthma in Indian children. In this hospital-based case-control study, included were children aged 1-15 years recruited as diagnosed cases of bronchial asthma, according to EPR 2007 and excluded were subjects with other respiratory diseases. Children with no present or past history of asthma were enrolled as controls. Spirometry was done in cases age ≥ 6 years. Gene-gene interaction was evaluated using binary logistic regression. From October 2010 to July 2013, 275 cases and 275 controls were recruited. Gene-gene interactions between C1112T in IL 13 and Ile50Val in IL 4 R gene polymorphisms were found to be statistically significant (OR = 2.37, 95% CI = 1.04-5.42, p = 0.040). Individuals with CT and GG genotype of C1112T in IL 13 and Ile50Val in IL 4 R were at twice the risk for the development of asthma compared to individuals with both non-risk genotypes. The data suggests that gene-gene interactions between IL 13 and IL 4 R genes may play an important role in asthma among Indian children.

  3. [Analysis of ATP2A2 gene mutations in a pedigree and a sporadic case with Darier disease].

    Science.gov (United States)

    Zhao, Xiaoyan; Gu, Yong; Du, Xufeng; Shao, Minhua; Luo, Hao; Zhu, Lude; Zhou, Qian; Zhang, Guolong

    2016-10-01

    To detect mutations of ATP2A2 gene in a pedigree and a sporadic case with Darier disease (DD) and explore the underlying molecular mechanism. Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from blood samples of four members from the pedigree (including three patients and one healthy member), the sporadic case and 100 healthy controls. PCR was performed to amplify all coding exons of the ATP2A2 gene. And the products were directly sequenced to detect mutations. A missense mutation c.1484C>T (p.S495L) in exon 12 was detected in all patients of the pedigree. For the sporadic case, a novel splicing mutation c.325-2A>G was detected at the junction between intron 4 and exon 5. The same mutations were not found in the 100 healthy controls. Mutations of the ATP2A2 gene may lead to the occurrence of DD in both familial and sporadic cases with DD.

  4. [Treatment of postmenopausal osteoporosis in the general medical practice (clinical case)].

    Science.gov (United States)

    Zhdan, V M; Kitura, O Ie; Kitura, Ie M; Babanina, M Iu; Tkachenko, M V

    2013-03-01

    In this article demonstrated a clinical case of patients with postmenopausal osteoporosis with compression fractures of (Th(IV)). Indicates the basic risk factors for postmenopausal osteoporosis, clinic, diagnosis, principles of therapy.

  5. Statistical Measure of a Gene Evolution The Case of Glyceraldehyde-3-Phosphate Dehydrogenase Gene

    CERN Document Server

    Chattopadhyay, S; Chakrabarti, J; Chattopadhyay, Sujay; Sahoo, Satyabrata; Chakrabarti, Jayprokas

    2000-01-01

    The enzyme Glyceraldehyde-3-Phosphate Dehydrogenase (GAPDH) catalyses the decomposition of glucose. The gene that produces the GAPDH is therefore present in a wide class of organisms. We show that for this gene the average value of the fluctuations in nucleotide distribution in the codons, normalized to strand bias, provides a reasonable measure of how the gene has evolved in time.

  6. Digital Device in Postextraction Implantology: A Clinical Case Presentation

    Directory of Open Access Journals (Sweden)

    A. E. Borgonovo

    2014-01-01

    Full Text Available Aim. The aim of this work is to describe a case of immediate implant placement after extraction of the upper right first premolar, with the use of CAD/CAM technology, which allows an early digital impression of the implant site with an intraoral scanner (MHT 3D Progress, Verona, Italy. Case Report. A 46-year-old female was referred with a disorder caused by continuous debonding of the prosthetic crown on the upper right first premolar. Clinically, there were no signs, and the evaluation of the periapical radiograph showed a fracture of the root, with a mesial well-defined lesion of the hard tissue of the upper right first premolar, as the radiolucent area affected the root surface of the tooth. It was decided, in accordance with the patient, that the tooth would be extracted and the implant (Primer, Edierre implant system, Genoa, Italy with diameter of 4.2 mm and length of 13 mm would be inserted. After the insertion of the implant, it was screwed to the scan abutment, and a scan was taken using an intraoral scanner (MHT 3D Progress, Verona, Italy. The scanned images were processed with CAD/CAM software (Exocad DentalCAD, Darmstadt, Germany and the temporary crown was digitally drawn (Dental Knowledge, Milan, Italy and then sent to the milling machine for production with a composite monoblock. After 4 months, when the implant was osteointegrated, it was not necessary to take another dental impression, and the definitive crown could be screwed in. Conclusion. The CAD/CAM technology is especially helpful in postextraction implant for aesthetic rehabilitation, as it is possible to immediately fix a provisional crown with an anatomic shape that allows an optimal healing process of the tissues. Moreover, the removal of healing abutments, and the use of impression copings, impression materials, and dental stone became unnecessary, enabling the reduction of the chair time, component cost, and patient’s discomfort. However, it is still necessary

  7. [Association of Schizophrenia and its Clinical Implications with the NOS1AP Gene in the Colombian Population].

    Science.gov (United States)

    Valencia, Jenny García; Duarte, Ana Victoria Valencia; Vila, Ana Lucía Páez; Kremeyer, Bárbara; Montoya, María Patricia Arbeláez; Linares, Andrés Ruiz; Acosta, Carlos Alberto Palacio; Duque, Jorge Ospina; Berrío, Gabriel Bedoya

    2012-06-01

    The nitric oxide synthase 1 adaptor protein (NOS1AP) gene is possibly implicated in schizophrenia etiopathogenesis. To determine the association of NOS1AP gene variants with schizophrenia and the relationship of variants with the clinical dimensions of the disorder in the Colombian population. It is a case-control study with 255 subjects per group. Markers within the NOS1AP gene were typified as well as other informative material of genetic origin so as to adjust by population stratification. A factorial analysis of the main components for each item in the Scales for Evaluating Negative Symptoms (SENS) together with the Scales for Evaluating Positive Symptoms (SEPS) to determine clinical dimensions. Association between the C/C genotype of the rs945713 marker with schizophrenia (OR = 1.79, 95% CI: 1.13 - 2.84) was found. The C/C genotype of the rs945713 was related to higher scores in the "affective flattening and alogia" dimension; and the A/A genotype of the rs4657181 marker was associated to lower scores in the same dimension. Significant associations of markers inside the NOS1AP gene with schizophrenia and the "affective flattening and alogia" clinical dimension were found. These results are consistent with previous studies and support the possibility that NOS1AP influences schizophrenia susceptibility. Furthermore, NOS1AP might be a modifier of schizophrenia clinical characteristics. Copyright © 2012 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  8. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Buchanan DD

    2014-10-01

    Full Text Available Daniel D Buchanan,1,2 Christophe Rosty,1,3,4 Mark Clendenning,1 Amanda B Spurdle,5 Aung Ko Win2 1Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia; 2Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia; 3Envoi Specialist Pathologists, Herston, QLD, Australia; 4School of Medicine, University of Queensland, Herston, QLD, Australia; 5Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, QLD, AustraliaAbstract: Carriers of a germline mutation in one of the DNA mismatch repair (MMR genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome. MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the

  9. Clinical Perspective A case of effective single-session treatment for ...

    African Journals Online (AJOL)

    Clinical Perspective A case of effective single-session treatment for attention deficit ... in which contingency management training was delivered to Daniel's parents ... he also displayed symptoms of depression and social anxiety and the case ...

  10. [The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7].

    Science.gov (United States)

    Yin, Xin-Zhen; Zhang, Bao-Rong; Wu, Ding-Wen; Tian, Jun; Zhang, Hao

    2007-06-01

    We investigated the clinical features and gene mutation in a pedigree of spinocerebellar ataxia (SCA). A series of clinical tests was performed including visual examination, retinal angiography, visual evoked potential, electroretinogram and magnetic resonance imaging. Genomic DNA of the family members and normal controls was used for amplification of the (CAG)n repeats of SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and DRPLA genes by PCR. The number of (CAG)n was determined by 8% denaturing polyacrylamide gel electrophoresis and direct sequencing. The main features of 2 patients were ataxia, visual failure, retinal degeneration, cerebellar and pontine atrophy. A mutation in SCA7 gene was detected, while no mutations were found in SCA1, SCA2, SCA3, SCA6, SCA17 or DRPLA gene. Therefore, this is a pedigree of SCA7. Analysis of the CAG trinucleotide repeat expansion at the SCA7 locus can provide valuable insights into SCA7.

  11. Mtp-40 and alpha antigen gene fragment amplification for the detection of Mycobacterium tuberculosis in Colombian clinical specimens

    Directory of Open Access Journals (Sweden)

    Rosalba Alfonso

    2002-12-01

    Full Text Available In this study, the use of Mtp-40 and alpha antigen polymerase chain reaction (PCR amplification fragments for the precise tuberculosis (TB diagnosis was evaluated. One hundred and ninety two different samples were obtained from 113 patients with suspected TB. Mtp-40 and alpha antigen protein genes were amplified by the PCR technique and compared to both the "gold standard" (culture test, as well as the clinical parameters (including a clinical record and X-ray film exam in 113 patients. Thirty-eight of the 113 patients had a presumptive clinical diagnosis of TB; 74% being detected by PCR technique, 58% by culture and 44% by direct microscopic visualization. Weconclude that it is possible to use PCR as a suitable technique for the detection of any mycobacteria by means of the alpha antigen product, or the specific infection of Mycobacterium tuberculosis by means of the mtp-40 gene. This might be a good supporting tool in difficult clinical TB diagnosis and pauci-bacillary cases.

  12. Education research: case logs in the assessment of medical students in the neurology outpatient clinic.

    Science.gov (United States)

    Albert, Dara V; Brorson, James R; Amidei, Christina; Lukas, Rimas V

    2014-04-22

    Using outpatient neurology clinic case logs completed by medical students on neurology clerkships, we examined the impact of outpatient clinical encounter volume per student on outcomes of knowledge assessed by the National Board of Medical Examiners (NBME) Clinical Neurology Subject Examination and clinical skills assessed by the Objective Structured Clinical Examination (OSCE). Data from 394 medical students from July 2008 to June 2012, representing 9,791 patient encounters, were analyzed retrospectively. Pearson correlations were calculated examining the relationship between numbers of cases logged per student and performance on the NBME examination. Similarly, correlations between cases logged and performance on the OSCE, as well as on components of the OSCE (history, physical examination, clinical formulation), were evaluated. There was a correlation between the total number of cases logged per student and NBME examination scores (r = 0.142; p = 0.005) and OSCE scores (r = 0.136; p = 0.007). Total number of cases correlated with the clinical formulation component of the OSCE (r = 0.172; p = 0.001) but not the performance on history or physical examination components. The volume of cases logged by individual students in the outpatient clinic correlates with performance on measures of knowledge and clinical skill. In measurement of clinical skill, seeing a greater volume of patients in the outpatient clinic is related to improved clinical formulation on the OSCE. These findings may affect methods employed in assessment of medical students, residents, and fellows.

  13. ISMAC: An Intelligent System for Customized Clinical Case Management and Analysis

    Directory of Open Access Journals (Sweden)

    Mingyu You

    2015-01-01

    Full Text Available Clinical cases are primary and vital evidence for Traditional Chinese Medicine (TCM clinical research. A great deal of medical knowledge is hidden in the clinical cases of the highly experienced TCM practitioner. With a deep Chinese culture background and years of clinical experience, an experienced TCM specialist usually has his or her unique clinical pattern and diagnosis idea. Preserving huge clinical cases of experienced TCM practitioners as well as exploring the inherent knowledge is then an important but arduous task. The novel system ISMAC (Intelligent System for Management and Analysis of Clinical Cases in TCM is designed and implemented for customized management and intelligent analysis of TCM clinical data. Customized templates with standard and expert-standard symptoms, diseases, syndromes, and Chinese Medince Formula (CMF are constructed in ISMAC, according to the clinical diagnosis and treatment characteristic of each TCM specialist. With these templates, clinical cases are archived in order to maintain their original characteristics. Varying data analysis and mining methods, grouped as Basic Analysis, Association Rule, Feature Reduction, Cluster, Pattern Classification, and Pattern Prediction, are implemented in the system. With a flexible dataset retrieval mechanism, ISMAC is a powerful and convenient system for clinical case analysis and clinical knowledge discovery.

  14. [Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].

    Science.gov (United States)

    Sudo, Akira; Hayashi, Yukiko; Sano, Hitomi; Kawamura, Nobuaki; Nishino, Ichizo; Nonaka, Ikuya

    2013-11-01

    Severe infantile form of nemaline myopathy is clinically characterized by marked muscle hypotonia and weakness with respiratory and feeding difficulties since infancy. Recently, mutations in the skeletal muscle alpha-actine gene (ACTA1) have been identified in many patients with the nemaline myopathy. We experienced two cases of severe infantile form of nemaline myopathy with ACTA1 mutation (missence heterozygous mutation;c.553C>T, p.R185C) in siblings presenting with different clinical symptoms and courses. The elder brother was a typical "floppy infant" at birth. Because he could not suck and swallow at all, he was fed completely through a nasogastric tube. At 2 months of age, he developed respiratory insufficiency and was placed on a respirator all day. He was diagnosed with having nemaline myopathy from his muscle biopsy, which revealed marked variation in muscle fiber size with large numbers of nemaline bodies on Gomori-trichrome stain. In contrast, the younger brother presented with mild muscular hypotonia and feeding difficulty during the neonatal stage;therefore, he was partly fed through a nasogastric tube. At 2 months of age, he was admitted to our hospital because of respiratory distress, and he required nasal continuous positive airway pressure with oxygen followed by noninvasive positive pressure ventilation intermittently, mainly at night. He was followed at his home by parents with no serious problems;however he unexpectedly died at the age of 15 months. Although most cases of severe infantile form of nemaline myopathy caused by ACTA1 mutations are sporadic and have no family history, we emphasize that clinical symptoms are variable in siblings with the same mutation.

  15. Spinal cord disease in children with malignancies: Clinical cases ...

    African Journals Online (AJOL)

    Four cases of children with malignancies and spinal cord pathology are presented. ... the liver laterally. Further staging investigations excluded pulmonary lesions and bone .... and infarcted and, as illustrated by the atrophic cord in case 1, the.

  16. [The posturological department as clinical support for occupational medicine: clinical cases and results of a hospital unit].

    Science.gov (United States)

    Centemeri, R; D'Orso, M I; Latocca, R; Pagani, W; Cesana, G C

    2007-01-01

    The posturologic visit is a not widely known medical method for the evaluation and the therapy of low back pain. We describe the clinical and instrumental method followed in our posturological clinical unit organized jointly by hospital and university and the clinical cases evaluated in two years. An individual diagnostic evaluation and a personal therapy allowed an almost generalized complete remission of the symptoms and a very low number of reactivation of low back pain after a follow up of one years.

  17. Studies on Clinical Aspects, Pathological Changes, Immunohistochemistry, 14-3-3 protein, PrP Gene, and Animal Transmission of Creutzldt-Jakob Disease in China

    Institute of Scientific and Technical Information of China (English)

    Lin Shilie; Zhao Jiexu; Jiang Xinmei; Song Xiaonan; Wang Weimin; Fan Yengyeng; Tao Yuiqin; Chen Xiuyun

    2000-01-01

    Objectives To investigate the clinical manifestations, pathological changes, expression of PrP gene, 14-3-3 protein in cerebrospinal fluid (CSF) and experimental animal transmission of Creuizfeldt-Jakob disease (CJD) in China. Methods Clinical aspects of 24 patients with CJD which was confirmed neuropathological were evaluated. Brain sections of 10 cases of them were given immunostaining with antiserum to a synthetic polypeptide of prioni protein (PrP). PrP gene was analyzed in 10 cases, and 14-3-3 protein in CSF was detected in 5 cases. Experimental mouse transmission was carried out using brain suspension from 7 patients with CJD. Results 1) Nineteen cases with sporadic CJD, 3 cases with iatrogenic CJD, 1 case with inherited CJD and 1 case with coexistence of Alzheimer disease(AD) and CJD were found. 2) The percentage of acute and subacute onset was high up to 96%. The illness duration was shorter in a subacute onset and the brain atrophy was not obvious.3) The synaptic type of PrP deposition was shown in paraffin sections in all -cases by immunostaining.4) 14-3-3 protein was detected in 5 eases in cerebrospinal fluid with CJD 5) Spongiform degeneration and PrP deposition could be shown in the brain sections of experimental mouse transmission. Conclusion There are special characteristics in clinical aspects of CJD in China. The detection of 14-3-3 protein can provide objective evidence for early diagnosis of CJD in order to prevent its transmission

  18. Gene therapy takes a cue from HAART: combinatorial antiviral therapeutics reach the clinic.

    Science.gov (United States)

    Shah, Priya S; Schaffer, David V

    2010-06-16

    For the first time, scientists have tested a combination of three RNA-based gene therapies, delivered via a lentiviral vector, to target HIV in patients. This study not only demonstrates the safety and long-term viability of this approach, but also highlights areas in which focused improvements in gene therapy strategies may provide the most impact in increasingly translating promise in the laboratory to efficacy in the clinic.

  19. Web-based unfolding cases: a strategy to enhance and evaluate clinical reasoning skills.

    Science.gov (United States)

    Johnson, Gail; Flagler, Susan

    2013-10-01

    Clinical reasoning involves the use of both analytical and nonanalytical intuitive cognitive processes. Fostering student development of clinical reasoning skills and evaluating student performance in this cognitive arena can challenge educators. The use of Web-based unfolding cases is proposed as a strategy to address these challenges. Unfolding cases mimic real-life clinical situations by presenting only partial clinical information in sequential segments. Students receive immediate feedback after submitting a response to a given segment. The student's comparison of the desired and submitted responses provides information to enhance the development of clinical reasoning skills. Each student's set of case responses are saved for the instructor in an individual-student electronic file, providing a record of the student's knowledge and thinking processes for faculty evaluation. For the example case given, the approaches used to evaluate individual components of clinical reasoning are provided. Possible future uses of Web-based unfolding cases are described. Copyright 2013, SLACK Incorporated.

  20. Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases.

    Science.gov (United States)

    Merello, Elisa; De Marco, Patrizia; Ravegnani, Marcello; Riccipetitoni, Giovanna; Cama, Armando; Capra, Valeria

    2013-12-01

    Currarino Syndrome (CS) is a rare congenital malformation characterized by three major clinical aspects: sacral anomalies, anorectal malformation and presacral mass. In familial settings the disorder is transmitted as autosomal dominant trait, with a wide phenotype variability and low penetrance. The causative gene of CS is the motor neuron and pancreas homeobox-1 (MNX1), mapped at 7q36, and coding for a transcription factor. Mutations in the MNX1 have been implicated in almost all familial but only in 30% of sporadic cases. In our cohort of 28 CS cases, 8 were familiar, 18 were sporadic and 2 were not determined cases. We performed mutational analysis of MNX1 in all cases by DNA sequencing as well as by Multiplex Ligation-dependent Probe Amplification (MLPA) in those CS cases where no MNX1 mutations were found, to exclude a MNX1 heterozygous loss. We identified 10 novel and 4 recurrent mutations. Among the novel mutations, 2 were frameshift variants (p.Ser4IlefsX52, p.Phe248SerfsX35), 6 were missense variants (p.Pro27Leu, p.Gly103Arg, p.Leu254Pro, p.Leu278Pro, p.Glu282Lys, p.Arg292Gly), one was a non-sense variant (p.Lys297X), and the last one was a synonymous variant (p.Gln290Gln). Mutated patients showed a variability of phenotypes but all share at least the association of sacral agenesis and presacral mass, and this co-occurrence can constitute a pathognomonic sign to perform MNX1 analysis. Genetic heterogeneity could be a possible explanation for some of the sporadic not mutated patients even if a mis-diagnosis could not be excluded. Finally, we provide an up-date of the more recent literature, reporting a total number of 82 MNX1-CS related mutations.

  1. The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis.

    Science.gov (United States)

    Lucarelli, Marco; Bruno, Sabina M; Pierandrei, Silvia; Ferraguti, Giampiero; Testino, Giancarlo; Truglio, Gessica; Strom, Roberto; Quattrucci, Serena

    2016-07-01

    More than 2000 sequence variations of the cystic fibrosis transmembrane conductance regulator gene are known. The marked genetic heterogeneity, poor functional characterization of the vast majority of sequence variations, and an uncertain genotype-phenotype relationship complicate the definition of mutational search strategies. We studied the effect of the marked genetic heterogeneity detected in a case series comprising 610 patients of cystic fibrosis (CF), grouped in different clinical macrocategories, on the operative characteristics of the genetic test designed to fully characterize CF patients. The detection rate in each clinical macrocategory and at each mutational step was found to be influenced by genetic heterogeneity. The definition of a single mutational panel that is suitable for all clinical macrocategories proved impossible. Only for classic CF with pancreas insufficiency did a reduced number of mutations yield a detection rate of diagnostic value. All other clinical macrocategories required an extensive genetic search. The search for specific mutational classes appears to be useful only in specific CF clinical forms. A flowchart defining a mutational search that may be adopted for different CF clinical forms, optimized in respect to those already available, is proposed. The findings also have consequences for carrier screening strategies.

  2. Clinical gene therapy for the treatment of RPE65-associated Leber congenital amaurosis.

    Science.gov (United States)

    Stein, Linda; Roy, Kamolika; Lei, Lei; Kaushal, Shalesh

    2011-03-01

    The positive results of pioneering clinical trials using gene therapy as treatment for patients with Leber congenital amaurosis (LCA) have ushered in a new era of molecular retinal therapeutics for LCA, other blinding retinal disorders and gene therapy applications. This review describes the role of retinal pigment epithelium-specific 65 kDa protein (RPE65) in the visual cycle and how RPE65 deficiency results in LCA; the extensive preclinical studies with recombinant adeno-associated virus (rAAV)-RPE65 gene vectors; and the human rAAV-RPE65 and related gene therapy clinical trials and studies. The literature search included a review of primary sources (e.g., journal articles) that reported study data results and key secondary sources such as meta-reviews available through PubMed, as well as reviews of clinical trial descriptions and results as reported in clinicaltrials.gov, conference publications and news releases. LCA-RPE65 gene therapy is an example of successful, innovative, translational research. Further research is needed regarding how retinal gene therapy can be improved.

  3. Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene

    Directory of Open Access Journals (Sweden)

    Lorenzo Minchiotti

    2011-10-01

    Full Text Available Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin (ALB. We report here a new case diagnosed in a 45 years old man of Southwestern Asian origin, living in Switzerland, on the basis of his low ALB concentration (0.9 g/L in the absence of renal or gastrointestinal protein loss, or liver dysfunction. The clinical diagnosis was confirmed by a mutational analysis of the albumin (ALB gene, carried out by single-strand conformational polymorphism (SSCP, heteroduplex analysis (HA, and DNA sequencing. This screening of the ALB gene revealed that the proband is homozygous for two mutations: the insertion of a T in a stretch of eight Ts spanning positions c.1289 + 23–c.1289 + 30 of intron 10 and a c.802 G > T transversion in exon 7. Whereas the presence of an additional T in the poly-T tract has no direct deleterious effect, the latter nonsense mutation changes the codon GAA for Glu244 to the stop codon TAA, resulting in a premature termination of the polypeptide chain. The putative protein product would have a length of only 243 amino acid residues instead of the normal 585 found in the mature serum albumin, but no evidence for the presence in serum of such a truncated polypeptide chain could be obtained by two dimensional electrophoresis and western blotting analysis.

  4. Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

    Science.gov (United States)

    Liu, Xiao-li; Huang, Xiao-jun; Luan, Xing-hua; Zhou, Hai-yan; Wang, Tian; Wang, Jing-yi; Chen, Sheng-di; Tang, Hui-dong; Cao, Li

    2015-01-01

    SCN4A encodes the Nav1.4 channel and mutations in SCN4A lead to different ionic channelopathies. In this study, one sporadic individual of periodic paralysis, one paramyotonia family and 200 normal healthy controls are enrolled. Genomic DNA was extracted from peripheral blood leukocytes, followed by polymerase chain reaction and DNA sequencing of candidate genes, including SCN4A and CACNA1S. As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively. Both mutations were not detected in healthy controls. Compared with reported cases, patients with mutation R675Q usually do not present hypokalemic periodic paralysis but hyperkalemic or normokalemic periodic paralysis. The mutation V445M was first reported in Chinese patients with nondystrophic myotonias. In addition, we carried out literature review by summarizing clinical features of the 2 mutations and establish the genotype-phenotype correlations to provide guidance for diagnosis.

  5. Screening of PEO1 and mitochondrial genes in sporadic cases of ophthalmoplegia

    Directory of Open Access Journals (Sweden)

    Ashok Singh

    2013-01-01

    Full Text Available Aim: To screen the gene PEO1 and mitochondrial genes in sporadic cases of rare progressive external ophthalmoplegia (PEO patients from North India. Materials and Methods: The nuclear and mitochondrial DNA was isolated from the sporadic PEO patients, and bi-directional sequencing was done in gene PEO1 and mitochondrial genes to capture the mutations relevant to the PEO disease. Results: In the present study, none of the mutations were reported in the coding region of PEO1 gene, while four mutations were observed in mtDNA genes, namely NADH dehydrogenase subunit 2 (ND2, tRNA-Trp, non-coding nucleotides (MT-NC3, and NADH dehydrogenase subunit 5 (MT-ND5. Our study revealed two novel mutations, one in tRNA-Trp and the other in ND2 gene, which may have role in sporadic cases of PEO patients. The absence of novel conserved mutation in tRNA-Trp gene was also confirmed in 110 ethnically matched controls. Conclusion: The sporadic case of PEO disease is not associated with mutations in nuclear gene PEO1. The novel mutation in tRNA-Trp gene and ND2 mutations may have role in the disease.

  6. epidemiological and Clinical Characteristics of 28 cases of Cholera

    Institute of Scientific and Technical Information of China (English)

    2014-01-01

    The data of 35 246 patients with intestinal diseases were retrospectively analyzed, 28 cases of cholera patients were screened in 17 years, of which 23 cases had suspicious unclean food history, 10 cases were migrant workers, 8 cases had history of coastal city tour in one week. All of the 28 patients were positive for Vibrio cholerae culture, 19 cases were identiifed as O1 serotype Ogawa and 6 were identiifed as O1 serotype Inaba, 3 were identified as O139. Twenty-three patients were mild, five cases were moderate, patients with severe diseases were not found. It was found in this study that O1 serotype Vibrio cholerae was still dominant, 82%of cholera patients were mild cases. Tourists who had a incompletely heated seafood intake history and migrant people are susceptible to cholera.

  7. Case Complexity and Quality Attestation for Clinical Ethics Consultants.

    Science.gov (United States)

    Spielman, Bethany; Craig, Jana; Gorka, Christine; Miller, Keith

    2015-01-01

    A proposal by the American Society for Bioethics and Humanities (ASBH) to identify individuals who are qualified to perform ethics consultations neglects case complexity in candidates' portfolios. To protect patients and healthcare organizations, and to be fair to candidates, a minimum case complexity level must be clearly and publicly articulated. This proof-of-concept study supports the feasibility of assessing case complexity. Using text analytics, we developed a complexity scoring system, and retrospectively analyzed more than 500 ethics summaries of consults performed at an academic medical center during 2013. We demonstrate its use with seven case summaries that range in complexity from uncomplicated to very complicated. We encourage the ASBH to require a minimum level of case complexity, and recommend that attestation portfolios include several cases of moderate complexity and at least one very complex case.

  8. Repeated Evolution of Testis-Specific New Genes: The Case of Telomere-Capping Genes in Drosophila

    Directory of Open Access Journals (Sweden)

    Raphaëlle Dubruille

    2012-01-01

    Full Text Available Comparative genome analysis has allowed the identification of various mechanisms involved in gene birth. However, understanding the evolutionary forces driving new gene origination still represents a major challenge. In particular, an intriguing and not yet fully understood trend has emerged from the study of new genes: many of them show a testis-specific expression pattern, which has remained poorly understood. Here we review the case of such a new gene, which involves a telomere-capping gene family in Drosophila. hiphop and its testis-specific paralog K81 are critical for the protection of chromosome ends in somatic cells and male gametes, respectively. Two independent functional studies recently proposed that these genes evolved under a reproductive-subfunctionalization regime. The 2011 release of new Drosophila genome sequences from the melanogaster group of species allowed us to deepen our phylogenetic analysis of the hiphop/K81 family. This work reveals an unsuspected dynamic of gene birth and death within the group, with recurrent duplication events through retroposition mechanisms. Finally, we discuss the plausibility of different evolutionary scenarios that could explain the diversification of this gene family.

  9. Gene silencing by siRNAs and antisense oligonucleotides in the laboratory and the clinic

    Science.gov (United States)

    Watts, Jonathan K.; Corey, David R.

    2014-01-01

    Synthetic nucleic acids are commonly used laboratory tools for modulating gene expression and have the potential to be widely used in the clinic. Progress towards nucleic acid drugs, however, has been slow and many challenges remain to be overcome before their full impact on patient care can be understood. Antisense oligonucleotides (ASOs) and small interfering RNAs (siRNAs) are the two most widely used strategies for silencing gene expression. We first describe these two approaches and contrast their relative strengths and weaknesses for laboratory applications. We then review the choices faced during development of clinical candidates and the current state of clinical trials. Attitudes towards clinical development of nucleic acid silencing strategies have repeatedly swung from optimism to depression during the past twenty years. Our goal is to provide the information needed to design robust studies with oligonucleotides, making use of the strengths of each oligonucleotide technology. PMID:22069063

  10. A validated gene expression profile for detecting clinical outcome in breast cancer using artificial neural networks.

    Science.gov (United States)

    Lancashire, L J; Powe, D G; Reis-Filho, J S; Rakha, E; Lemetre, C; Weigelt, B; Abdel-Fatah, T M; Green, A R; Mukta, R; Blamey, R; Paish, E C; Rees, R C; Ellis, I O; Ball, G R

    2010-02-01

    Gene expression microarrays allow for the high throughput analysis of huge numbers of gene transcripts and this technology has been widely applied to the molecular and biological classification of cancer patients and in predicting clinical outcome. A potential handicap of such data intensive molecular technologies is the translation to clinical application in routine practice. In using an artificial neural network bioinformatic approach, we have reduced a 70 gene signature to just 9 genes capable of accurately predicting distant metastases in the original dataset. Upon validation in a follow-up cohort, this signature was an independent predictor of metastases free and overall survival in the presence of the 70 gene signature and other factors. Interestingly, the ANN signature and CA9 expression also split the groups defined by the 70 gene signature into prognostically distinct groups. Subsequently, the presence of protein for the principal prognosticator gene was categorically assessed in breast cancer tissue of an experimental and independent validation patient cohort, using immunohistochemistry. Importantly our principal prognosticator, CA9, showed that it is capable of selecting an aggressive subgroup of patients who are known to have poor prognosis.

  11. Carbapenemase Genes among Multidrug Resistant Gram Negative Clinical Isolates from a Tertiary Hospital in Mwanza, Tanzania

    Directory of Open Access Journals (Sweden)

    Martha F. Mushi

    2014-01-01

    Full Text Available The burden of antimicrobial resistance (AMR is rapidly growing across antibiotic classes, with increased detection of isolates resistant to carbapenems. Data on the prevalence of carbapenem resistance in developing countries is limited; therefore, in this study, we determined the prevalence of carbapenemase genes among multidrug resistant gram negative bacteria (MDR-GNB isolated from clinical specimens in a tertiary hospital in Mwanza, Tanzania. A total of 227 MDR-GNB isolates were analyzed for carbapenem resistance genes. For each isolate, five different PCR assays were performed, allowing for the detection of the major carbapenemase genes, including those encoding the VIM-, IMP-, and NDM-type metallo-beta-lactamases, the class A KPC-type carbapenemases, and the class D OXA-48 enzyme. Of 227 isolates, 80 (35% were positive for one or more carbapenemase gene. IMP-types were the most predominant gene followed by VIM, in 49 (21.59% and 28 (12% isolates, respectively. Carbapenemase genes were most detected in K. pneumoniae 24 (11%, followed by P. aeruginosa 23 (10%, and E. coli with 19 isolates (8%. We have demonstrated for the first time a high prevalence of MDR-GNB clinical isolates having carbapenem resistance genes in Tanzania. We recommend routine testing for carbapenem resistance among the MDR-GNB particularly in systemic infections.

  12. Carbapenemase Genes among Multidrug Resistant Gram Negative Clinical Isolates from a Tertiary Hospital in Mwanza, Tanzania

    Science.gov (United States)

    Mushi, Martha F.; Mshana, Stephen E.; Imirzalioglu, Can; Bwanga, Freddie

    2014-01-01

    The burden of antimicrobial resistance (AMR) is rapidly growing across antibiotic classes, with increased detection of isolates resistant to carbapenems. Data on the prevalence of carbapenem resistance in developing countries is limited; therefore, in this study, we determined the prevalence of carbapenemase genes among multidrug resistant gram negative bacteria (MDR-GNB) isolated from clinical specimens in a tertiary hospital in Mwanza, Tanzania. A total of 227 MDR-GNB isolates were analyzed for carbapenem resistance genes. For each isolate, five different PCR assays were performed, allowing for the detection of the major carbapenemase genes, including those encoding the VIM-, IMP-, and NDM-type metallo-beta-lactamases, the class A KPC-type carbapenemases, and the class D OXA-48 enzyme. Of 227 isolates, 80 (35%) were positive for one or more carbapenemase gene. IMP-types were the most predominant gene followed by VIM, in 49 (21.59%) and 28 (12%) isolates, respectively. Carbapenemase genes were most detected in K. pneumoniae 24 (11%), followed by P. aeruginosa 23 (10%), and E. coli with 19 isolates (8%). We have demonstrated for the first time a high prevalence of MDR-GNB clinical isolates having carbapenem resistance genes in Tanzania. We recommend routine testing for carbapenem resistance among the MDR-GNB particularly in systemic infections. PMID:24707481

  13. DGIdb 2.0: mining clinically relevant drug-gene interactions.

    Science.gov (United States)

    Wagner, Alex H; Coffman, Adam C; Ainscough, Benjamin J; Spies, Nicholas C; Skidmore, Zachary L; Campbell, Katie M; Krysiak, Kilannin; Pan, Deng; McMichael, Joshua F; Eldred, James M; Walker, Jason R; Wilson, Richard K; Mardis, Elaine R; Griffith, Malachi; Griffith, Obi L

    2016-01-01

    The Drug-Gene Interaction Database (DGIdb, www.dgidb.org) is a web resource that consolidates disparate data sources describing drug-gene interactions and gene druggability. It provides an intuitive graphical user interface and a documented application programming interface (API) for querying these data. DGIdb was assembled through an extensive manual curation effort, reflecting the combined information of twenty-seven sources. For DGIdb 2.0, substantial updates have been made to increase content and improve its usefulness as a resource for mining clinically actionable drug targets. Specifically, nine new sources of drug-gene interactions have been added, including seven resources specifically focused on interactions linked to clinical trials. These additions have more than doubled the overall count of drug-gene interactions. The total number of druggable gene claims has also increased by 30%. Importantly, a majority of the unrestricted, publicly-accessible sources used in DGIdb are now automatically updated on a weekly basis, providing the most current information for these sources. Finally, a new web view and API have been developed to allow searching for interactions by drug identifiers to complement existing gene-based search functionality. With these updates, DGIdb represents a comprehensive and user friendly tool for mining the druggable genome for precision medicine hypothesis generation.

  14. Globalisation reaches gene regulation: the case for vertebrate limb development.

    Science.gov (United States)

    Zuniga, Aimée

    2005-08-01

    Analysis of key regulators of vertebrate limb development has revealed that the cis-regulatory regions controlling their expression are often located several hundred kilobases upstream of the transcription units. These far up- or down-stream cis-regulatory regions tend to reside within rather large, functionally and structurally unrelated genes. Molecular analysis is beginning to reveal the complexity of these large genomic landscapes, which control the co-expression of clusters of diverse genes by this novel type of long-range and globally acting cis-regulatory region. An increasing number of spontaneous mutations in vertebrates, including humans, are being discovered inactivating or altering such global control regions. Thereby, the functions of a seemingly distant but essential gene are disrupted rather than the closest.

  15. Overview of gene therapy clinical progress including cancer treatment with gene-modified T cells.

    Science.gov (United States)

    Brenner, Malcolm K; Okur, Fatma V

    2009-01-01

    It is now twenty years since the first legal gene transfer studies were approved, and there has been considerable disappointment in the slow rate of progress that followed the initial studies. Gradually, however, as the limitations of available vectors are acknowledged and overcome, and with advances in our understanding of the molecular and cell biology of genetic diseases and of cancer, unequivocal successes are now being reported. In this paper we describe the remaining major roadblocks to successful gene therapy and outline approaches to overcome them. We also illustrate how genetically modified immune system cells are already being used for the effective treatment of hematological and other malignancies, and how these approaches are being modified so that they can be effective in treating a broader range of malignancies.

  16. Clinical features of primary biliary cirrhosis: a clinical analysis of 70 cases

    Directory of Open Access Journals (Sweden)

    LU Weiting

    2013-12-01

    Full Text Available ObjectiveTo investigate the clinical features of patients with primary biliary cirrhosis (PBC. MethodsA retrospective analysis was performed on the clinical data of 70 inpatients diagnosed with PBC from January 2008 to March 2013. The initial symptoms, liver function, and antimitochondrial antibody (AMA subtypes (M2, M4, and M9 of patients, as well as the pathological results of 3 cases, were recorded. The increases in alanine aminotransferase (ALT, aspartate aminotransferase (AST, alanine phosphatase (ALP, and gamma-glutamyl transpeptidase (GGT were analyzed by Wilcoxon rank sum test. ResultsOf all patients, 84.3% were females; the mean age was 59.2±8.7 years. The main clinical manifestations included weakness (25.7%, itching (24.3%, discomfort in the upper right abdominal quadrant (18.6%, and abdominal distension (18.6%. Abnormal liver function was mainly characterized by significant increases in GGT (324.5±250.4 U/L and ALP(381.1±259.0 U/L. The number of patients with more than 5-fold increase in GGT was significantly higher than the numbers of patients with more than 5-fold increases in ALT, AST, and ALP (u=-5.861, P=0000; u=-4.036, P=0.000; u=-4.445, P=0.000. The numbers of patients with more than 2-fold increases in AST and ALP were significantly higher than the number of patients with more than 2-fold increase in ALT (u=-4.405, P=0.000; u=-3.625, P=0.000. Among all patients, 87.1% were positive for antimitochondrial M2 antibody (AM2A, 31.4% were positive for AM4A, and 114% were positive for AM9A. ConclusionPBC, more common in females, is the chronic liver damage characterized by significant increases in GGT and ALP. Detection of AMA subtypes (M2, M4and M9 is valuable for confirming the diagnosis of PBC.

  17. Clinical Etiologies of Fever of Unknown Origin in 500 Cases.

    Science.gov (United States)

    Jun-Cai, T U; Ping, Zhou; Xiao-Juan, L I; Ying, Sun; Hui-Yuan, S I; Chun-Wei, Wang; Shou-Lei, Han; Fei-Yun, Zhu

    2015-06-01

    To investigate the distribution and change of the causes of fever of unknown origin(FUO). The clinical data of 500 inpatients with FUO in our center between December 2003 and June 2014 were retrospectively analyzed. The diagnostic methods,etiologies,and their possible relationship with age,sex,fever duration,and period. Of these 500 FUO patients,452(90.4%)were confirmed to be with fever caused by conditions including infectious diseases [(n=231,46.2%;e.g.tuberculosis(32.9%,76/231)],connective tissue diseases(CTD)(n=99,19.8%),neoplasms(n=58,11.6%),miscellaneous causes(n=64,12.8%). The causes were not identified in 48 cases(9.6%).The proportion of CTD in female patients was significantly higher than that in male patients(26.3% vs. 14.5%,P=0.025),whereas the proportion of neoplasms in male patients was significantly higher than that in female patients(14.5% vs. 8.0%,P=0.001). Infectious diseases was the most common cause in all age groups,CTD ranked the second in the 21-39-year group and 40-59-year group,and neoplasm was the second most coomon cause in the over 60 year group. Thus,the distribution of FUO etiologies significantly differed in different age groups(χ(2)=43.10,P=0.000). The duration of fever in patients with neoplasms [60(28,90)d] was longer than that in patients with infectious diseases [28(21,42)d,Z=-4.168,P=0.000] or CTD [30(21,60)d,Z=-2.406,P=0.016)]. Compared with the level in 2003-2008,the proportion of CTD significantly increased in 2009-2014(13.7% vs. 23.8%,χ(2)=8.598,P=0.003),along with the dicrease of the proportions of infectious diseases,neoplasms and miscellaneous diseases were decreased(all P>0.05). Infectious diseases(in particular,tuberculosis)remains the major cause of FUO. CTD and neoplasms also play important roles in the development of FUO. The distributions of the FUO etiologies have certain differences in terms of age,sex,duration of fever,and period.

  18. Clinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction.

    Science.gov (United States)

    Butler, Merlin G; McGuire, Austen; Manzardo, Ann M

    2015-04-01

    Obesity is a growing public health concern now reaching epidemic status worldwide for children and adults due to multiple problems impacting on energy intake and expenditure with influences on human reproduction and infertility. A positive family history and genetic factors are known to play a role in obesity by influencing eating behavior, weight and level of physical activity and also contributing to human reproduction and infertility. Recent advances in genetic technology have led to discoveries of new susceptibility genes for obesity and causation of infertility. The goal of our study was to provide an update of clinically relevant candidate and known genes for obesity and infertility using high resolution chromosome ideograms with gene symbols and tabular form. We used computer-based internet websites including PubMed to search for combinations of key words such as obesity, body mass index, infertility, reproduction, azoospermia, endometriosis, diminished ovarian reserve, estrogen along with genetics, gene mutations or variants to identify evidence for development of a master list of recognized obesity genes in humans and those involved with infertility and reproduction. Gene symbols for known and candidate genes for obesity were plotted on high resolution chromosome ideograms at the 850 band level. Both infertility and obesity genes were listed separately in alphabetical order in tabular form and those highlighted when involved with both conditions. By searching the medical literature and computer generated websites for key words, we found documented evidence for 370 genes playing a role in obesity and 153 genes for human reproduction or infertility. The obesity genes primarily affected common pathways in lipid metabolism, deposition or transport, eating behavior and food selection, physical activity or energy expenditure. Twenty-one of the obesity genes were also associated with human infertility and reproduction. Gene symbols were plotted on high resolution

  19. Perspectives on randomized clinical trials : the case for albuminuria

    NARCIS (Netherlands)

    Lambers Heerspink, Hiddo Jan

    2008-01-01

    Large scale randomized clinical trials are needed to detect small but meaningful effects of new drugs. However, large scale randomized clinical trials are expensive undertakings and they are in imbalance with the scientific output. As a consequence there is a strong voice for more efficacious random

  20. EXPRESSION OF INTRON 9 IN CD44 GENE IN CERVICAL CANCER AND CIN AND ITS CLINICAL SIGNIFICANCE

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Objective: To detect the retention of intron 9 in CD44 mRNA in cervical cancer tissue, CIN, cervicitis and their exfoliated cells, and to study their clinical significance in diagnosis and treatment of early-stage, non-invasive cervical cancer. Methods: RT-PCR methods were used to detect the retention of intron 9 in CD44 mRNA in 30 cases of cervical cancer tissue, 11 cases of CIN tissue, 30 cases of cervicitis tissue and their exfoliated cells. Results: The retention rate of intron 9 in CD44 gene transcripts were 76.7% in cervical cancer tissue, 89.8% in corresponding exfoliated cells, 70.8% in CIN tissue, and 60.0% in CIN exfoliated cells, but undetected in neither cervicitis tissue nor exfoliated cells. The relative quantity of intron 9 in CD44 gene transcripts was 1.10 ( 0.12 in cervical cancer tissue, 1.21 ( 0.11 in CIN tissue, 1.11 ( 0.19 in cervical cancer exfoliated cells, 1.17 ( 0.12 in CIN exfoliated cells respectively, but undetected in neither cervicitis tissue nor exfoliated cells. The retention rate and relative content of intron 9 in CD44 gene transcripts in cervical cancer and CIN tissue and their exfoliated cells were statistically higher than that in cervicitis and their exfoliated cells (P0.05). Conclusion: Detecting the retention of intron 9 in CD44 mRNA in cervical exfoliated cells was more sensitivity than traditional cytology exam for diagnosing cervical cancer, and the techniques was worth clinical application.

  1. Sarcomatoid mesothelioma: a clinical-pathologic correlation of 326 cases.

    Science.gov (United States)

    Klebe, Sonja; Brownlee, Noel A; Mahar, Annabelle; Burchette, James L; Sporn, Thomas A; Vollmer, Robin T; Roggli, Victor L

    2010-03-01

    Sarcomatoid mesothelioma is the least common, but most aggressive of the three major histological types of mesotheliomas. This study comprises 326 cases of sarcomatoid mesotheliomas among 2000 consecutive malignant mesothelioma cases received in consultation (16%). Patients included 312 men (96%) and 14 women (4%), with a median age of 70 years (range 41-94 years). Most tumors were pleural (319; 98%), and 7 were peritoneal (2%). Some desmoplastic features were identified in 110 cases (34%), and 70 (21%) were classified as desmoplastic. Rare subtypes included two cases with a lymphohistiocytoid pattern (mesotheliomas (2%). Labeling for cytokeratins (CKs) was observed in 261/280 cases (93%), and for calretinin and vimentin in 31 and 91%, respectively. Pleural plaques were present in 79% of cases for which information was available, and asbestosis was diagnosed in 34/127 cases (27%). Median survival was 3.5 months. Fiber analysis was performed in 61 cases. The median asbestos body count was 1640/g wet lung tissue (by light microscopy). Amosite fibers were the most commonly identified fibers using energy-dispersive X-ray analysis and were significantly higher in the sarcomatoid cases, as were uncoated fibers using scanning electron microscopy. This study represents the largest series of sarcomatoid and desmoplastic malignant mesotheliomas to date and confirms the diagnostic usefulness of CK immunohistochemistry. The relationship with asbestos exposure--particularly amosite--and an association with pleural plaques and less often asbestosis is confirmed.

  2. Prion disease induced alterations in gene expression in spleen and brain prior to clinical symptoms

    Directory of Open Access Journals (Sweden)

    Hyeon O Kim

    2008-09-01

    Full Text Available Hyeon O Kim1, Greg P Snyder1, Tyler M Blazey1, Richard E Race2, Bruce Chesebro2, Pamela J Skinner11Department of Veterinary and Biomedical Sciences, University of Minnesota, USA; 2NIH Laboratory of Persistent Viral Diseases, Rocky Mountain Laboratories, Hamilton, Montana, USAAbstract: Prion diseases are fatal neurodegenerative disorders that affect animals and humans. There is a need to gain understanding of prion disease pathogenesis and to develop diagnostic assays to detect prion diseases prior to the onset of clinical symptoms. The goal of this study was to identify genes that show altered expression early in the disease process in the spleen and brain of prion disease-infected mice. Using Affymetrix microarrays, we identified 67 genes that showed increased expression in the brains of prion disease-infected mice prior to the onset of clinical symptoms. These genes function in many cellular processes including immunity, the endosome/lysosome system, hormone activity, and the cytoskeleton. We confirmed a subset of these gene expression alterations using other methods and determined the time course in which these changes occur. We also identified 14 genes showing altered expression prior to the onset of clinical symptoms in spleens of prion disease infected mice. Interestingly, four genes, Atp1b1, Gh, Anp32a, and Grn, were altered at the very early time of 46 days post-infection. These gene expression alterations provide insights into the molecular mechanisms underlying prion disease pathogenesis and may serve as surrogate markers for the early detection and diagnosis of prion disease.Keywords: prion disease, microarrays, gene expression

  3. Examining the Stability of Experts' Clinical Case Processing: An Experimental Manipulation

    Science.gov (United States)

    De Bruin, Anique B. H.; Van De Wiel, Margaretha W. J.; Rikers, Remy M. J. P.; Schmidt, Henk G.

    2005-01-01

    The present study was undertaken to examine the hypothesis that the intermediate effect in clinical case recall is partly explained by experts' lower motivation to write down "everything" they remember when asked for free recall. Medical experts and students were presented with two clinical cases, which they had to read, diagnose, and recall.…

  4. [Clinical study of 57 cases of infection with Trichophyton tonsurans examined at a dermatology clinic in Saga Prefecture, Japan].

    Science.gov (United States)

    Shinoda, Hidekazu; Nishimoto, Katsutaro

    2007-01-01

    This paper is a clinical study of 57 cases of infection with Trichophyton tonsurans (T. tonsurans) examined in our clinic between January 2004 and July 2006. The patients were 31 high school students, 19 junior high school students, 2 primary school students, 1 kindergartener, and 4 sports instructors. The male:female ratio was 51:6. Most patients were male Judo practitioners. Patients were clinically categorized as follows: 13 cases of tinea capitis {10 containing black dot ringworms (BDR), 2 scaled, and 1 with inflammation}, 41 cases of tinea corporis, 1 case of tinea manum, and 7 carriers. Five patients displayed both tinea capitis and tinea corporis. Among tinea corporis patients, 21 displayed annular erythemas, whereas 19 displayed small circular eythemas characterized by a lightly inflamed non-typical rush. In 3 tinea corporis cases, we sampled T. tonsurans from hair grown inside the skin rash. Eleven of the tinea corporis patients displayed multiple lesions. Compared to patients with singular lesions, these 11 cases had a larger degree of comorbidity with BDR or HB positivity. A 6-8 week treatment with griseofulvin was efficient in 90% of the tinea capitis cases. Tinea corporis patients were healed following a 4-9 week treatment with topical antifungals and griseofulvin. When examining T. tonsurans infections, patients with BDR or lightly inflamed tinea corporis as well as asymptomatic carriers can be easily overlooked or misdiagnosed. Therefore, we suggest that mycological examination, including careful observation of the rash and KOH mount, is essential in these cases.

  5. [The clinical application of zirconium-dioxide-ceramics. Case report].

    Science.gov (United States)

    Somfai, Dóra; Zsigmond, Ágnes; Károlyházy, Katalin; Kispély, Barbara; Hermann, Péter

    2015-12-01

    Due to its outstanding physical, mechanical and esthetic properties, zirconium-dioxide is one of the most popular non-metal denture, capable of surpassing PFM in most cases. The recent advances of CAD/CAM technology makes it a good alternitve. Here we show the usefulness of zirconium-dioxide in everyday dental practice through three case reports.

  6. [Tinea nigra. 1st clinical case in Uruguay].

    Science.gov (United States)

    Conti-Díaz, I A; Burgoa, F; Civila, E; Bonasse, J; Miller, A

    1984-08-30

    The first case in Uruguay of 'tinea nigra' is described in a 44-year-old male patient with a maculous pigmented lesion on the right foot. It represents the most meridional case of the disease yet recorded in South America. Exophiala werneckii was isolated in cultures (strain 1905 IHM).

  7. Case Study: Caregiver Perception of Pediatric Multidisciplinary Feeding Outpatient Clinic

    Directory of Open Access Journals (Sweden)

    Thomas F. Fisher PhD, OT, FAOTA

    2014-01-01

    Full Text Available This study explores the perception of satisfaction of caregivers who attended a feeding clinic at a large pediatric hospital in the midwest. The clinic is designed for a multidisciplinary team to meet with the child and the caregiver. Thirty-five participants were involved in the study. Results indicated that most participants were satisfied with the clinic experience. However, there were areas of care not covered by the members of the feeding team, which indicates a need. It is suggested that this need could be filled by occupational therapists.

  8. Clinical significance of hTERC and C-Myc genes amplification in a group of Egyptian patients with cancer cervix.

    Science.gov (United States)

    Eid, M M; Nossair, H M; Ismael, M T; Amira, G; Hosney, M M; Abdul Rahman, R

    2011-07-01

    Cervical cancer is the second most common cancer in women worldwide after breast cancer. Cervical cancer is a preventable disease. The implementation of cervical cancer screening programs has greatly decreased the morbidity and mortality, as precancerous lesions and early invasive cervical cancer could be detected and treated effectively. The detection of hTERC gene amplification was suggested as a possible diagnostic marker for use in routine cytological screening. The present study was designed to detect genomic gains of the hTERC and C-MYC genes using FISH technique and to investigate the relationship between genes amplification and the clinical data of the patients. The current study was carried out on twelve cases with cervical cancer at different grades (three cases were grade I, six cases were grade II and three cases were grade III). Interphase FISH analysis using LSI probe, Cervical Cancer probe hTERC (3q26) & C-MYC (8q24), was successfully performed on 12 patients with cancer cervix. Interphase FISH analysis revealed positive hTERC gene amplification in all cases of cancer cervix (100%). However C-MYC gene amplification was detected in four cases only (33.3%). Statistical analysis of the data revealed significant correlation between hTERC amplification and grading. Also, there was significant correlation between C-MYC amplification and grading and highly significant correlation between C-MYC amplification and hTERC amplification. On the other hand hTERC and C-MYC genes amplification showed an inverse correlation with the ages of the patients. The present study highlights the importance of using hTERC and C-MYC genes FISH probes for cases with cancer cervix or pre-malignant lesions as a sensitive technique. This method provides an easy and effective applicable approach which helps in the diagnosis and prognosis, as an increased copy number is associated with a more advanced grade that could be detected in the early stages of the disease.

  9. Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report.

    Science.gov (United States)

    Alves, Daniel Berretta; Silva, Juliana Melo; Menezes, Tatiany Oliveira; Cavaleiro, Rosely Santos; Tuji, Fabrício Mesquita; Lopes, Marcio Ajudarte; Zaia, Alexandre Augusto; Coletta, Ricardo Della

    2014-03-16

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short stature, craniofacial dimorphism, alopecia, bone fragility, and cardiovascular disorders. The most frequent cause of death is myocardial infarction at a mean age of 13 years old. Dental manifestations include delayed development and eruption of teeth, discoloration, crowding and rotation of teeth, and displaced teeth. Cone beam computed tomography images revealed the absence of the sphenoid, frontal, and maxillary sinus, flattening of the condyles and glenoid fossa, and bilateral hypoplasia of the mandibular condyles. The disease is caused by mutations in lamin A/C (LMNA). Here, we present a case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation (C1824T, G608G) in exon 11 of the LMNA gene. Some uncommon HGPS-associated features in our patient, such as alterations in the facial sinuses and hypoplasia of the condyles, contributed to the expansion of the phenotypic spectrum of this syndrome from a dentomaxillofacial perspective.

  10. Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients.

    Science.gov (United States)

    Tazawa, Yusaku; Kobayashi, Keiko; Abukawa, Daiki; Nagata, Ikuo; Maisawa, Shunichi; Sumazaki, Ryo; Iizuka, Toshiyuki; Hosoda, Yoshito; Okamoto, Manabu; Murakami, Jun; Kaji, Shunsaku; Tabata, Ayako; Lu, Yao Bang; Sakamoto, Osamu; Matsui, Akira; Kanzaki, Susumu; Takada, Goro; Saheki, Takeyori; Iinuma, Kazuie; Ohura, Toshihiro

    2004-11-01

    A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). We analyzed 16 patients with NICCD to clarify the clinical features of the disease. Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or biliary atresia, positive results from newborn screening, tyrosinemia, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia. Laboratory data showed elevated serum bile acid levels, hypoproteinemia, low levels of vitamin K-dependent coagulation factors, and hypergalactosemia. Hypercitrullinemia was detected in 11 out of 15 patients examined. Most of the patients were given a lactose-free and/or medium chain triglycerides-enriched formula and lipid-soluble vitamins. The prognosis of the 16 patients is going fairy well at present, but we should observe these patients carefully to see if they manifest any symptom of CTLN2 in the future.

  11. Informed Conditioning on Clinical Covariates Increases Power in Case-Control Association Studies

    OpenAIRE

    Zaitlen, Noah; Lindstroem, Sara; Pasaniuc, Bogdan; Cornelis, Marilyn; Genovese, Giulio; Pollack, Samuela; Barton, Anne; Bickeboeller, Heike; Donald W. Bowden; Eyre, Steve; Barry I Freedman; Friedman, David J.; Field, John K.; Groop, Leif; Haugen, Aage

    2012-01-01

    Genetic case-control association studies often include data on clinical covariates, such as body mass index (BMI), smoking status, or age, that may modify the underlying genetic risk of case or control samples. For example, in type 2 diabetes, odds ratios for established variants estimated from low-BMI cases are larger than those estimated from high-BMI cases. An unanswered question is how to use this information to maximize statistical power in case-control studies that ascertain individuals...

  12. Evidence of no protection for a recurrent case of pathogen specific clinical mastitis from a previous case.

    Science.gov (United States)

    Cha, Elva; Hertl, Julia; Schukken, Ynte; Tauer, Loren; Welcome, Frank; Gröhn, Yrjö

    2016-02-01

    The objective of this study was to determine whether the occurrence of a previous case of pathogen-specific clinical mastitis (CM) protects Holstein dairy cows against a recurrent case. Pathogens studied were Escherichia coli, Staphylococcus aureus, Staphylococcus spp., Streptococcus spp., Klebsiella spp., and Trueperella pyogenes. A total of 40 864 lactations (17,265 primiparous and 23,599 multiparous) from 19 835 cows from 5 large, high milk producing New York State dairy herds were analysed. We estimated the effects of parity, calving diseases, milk yield, current season and number of CM cases in the previous lactation on the risk of a first CM case using generalised linear mixed models with a log link and Poisson error distribution. The aforementioned risk factors and the occurrence of previous cases of pathogen-specific CM within the current lactation were evaluated as risks for second and third cases of pathogen-specific CM. Cows with more CM cases in the previous lactation were at greater risk of pathogen-specific CM in the current lactation. Multiparous cows were at greater risk of a second CM case if they had suffered from a first CM case that was caused by the same pathogen as the second case. In contrast, a second CM case generally put cows at greater risk of a third case, irrespective of whether the third case was caused by the same or a different pathogen. Our results showed that a previous case of pathogen specific CM does not generally protect against a recurrent case.

  13. High Prevalence and Clinical Relevance of Genes Affected by Chromosomal Breaks in Colorectal Cancer

    NARCIS (Netherlands)

    Broek, E. van den; Dijkstra, M.J.; Krijgsman, O.; Sie, D.; Haan, J.C.; Traets, J.J.; Wiel, M.A. van de; Nagtegaal, I.D.; Punt, C.J.A.; Carvalho, B.; Ylstra, B.; Abeln, S.; Meijer, G.A.; Fijneman, R.J.

    2015-01-01

    BACKGROUND: Cancer is caused by somatic DNA alterations such as gene point mutations, DNA copy number aberrations (CNA) and structural variants (SVs). Genome-wide analyses of SVs in large sample series with well-documented clinical information are still scarce. Consequently, the impact of SVs on

  14. Detection of KRAS gene mutation and its clinical significance in colorectal adenocarcinoma

    Institute of Scientific and Technical Information of China (English)

    徐晨

    2012-01-01

    Objective To explore the clinical significance of KRAS mutation detection in colorectal adenocarcinoma. Methods Paraffin-embedded tissue specimens were obtained from 440 patients with colorectal adenocarcinoma. The genomic DNA was extracted. Mutations of exon 2 of KRAS gene were examined by PCR and

  15. The case for a specialist multidisciplinary valve clinic.

    Science.gov (United States)

    Chambers, John B; Lloyd, Guy; Rimington, Helen M; Parkin, Denise; Hayes, Anna M; Baldrock-Apps, Gemma; Topham, Ann

    2012-01-01

    Valve disease is common and is increasing in prevalence as the population ages. The delivery of appropriate management is not always straightforward, and better ways of organizing care are required. Here, the argument is made for a specialist multidisciplinary valve clinic, while a description is provided of the authors' model clinic, which incorporates a specialist cardiologist in addition to sonographers and a nurse who carry out the surveillance services. The clinic is based at a cardiothoracic center and one district hospital, but could be generalized. Previous audits have shown that this model can reduce the number of patients seen by a cardiologist, thus improving the safety and quality of treatment compared to conventional clinics.

  16. Measuring Clinical Competence in Psychology Graduate Students: A Case Example.

    Science.gov (United States)

    Swope, Alan J.

    1987-01-01

    Describes the development and evaluation of clinical competence in psychology graduate students. Includes a rationale for instituting the procedures, a description of the development of the first competence examination, and a discussion of the findings. (JDH)

  17. Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report

    Science.gov (United States)

    LIU, JINGFANG; TANG, XULEI; CHENG, JIANGUO; WANG, LITING; YANG, XIAOMEI; WANG, YAN

    2015-01-01

    Achondroplasia (ACH) is a hereditary dwarfism caused by the disturbed proliferation and differentiation of growth plate chondrocytes, followed by impaired endochondral bone growth. ACH is caused by mutations in the gene encoding the transmembrane receptor, fibroblast growth factor receptor 3 (FGFR3). In total, >90% of patients with ACH have a G1138A mutation in the transmembrane domain of the FGFR3 gene. Patients with ACH usually have no growth hormone (GH) deficiency. The current study presents the case of a four-year-old male with clinical manifestations suggestive of ACH, including a large head, prominent forehead, short upper arms and legs, and short hands with fingers assuming a trident position. The patient showed normal responses to GH provocation tests with L-dopa (peak GH concentration, 42.38 ng/ml) and insulin (peak GH concentration, 23.29 ng/ml during hypoglycemia), but a blunted response to a GH provocation test with arginine (peak GH concentration, 7.31 ng/ml). Furthermore, the GH concentration during exercise was low (4.8 ng/ml). Magnetic resonance imaging revealed a decreased pituitary volume. Thyroid function tests and the levels of sex hormones (follicle stimulating hormone, luteinizing hormone, estradiol, prolactin and progesterone), cortisol and adrenocorticotropic hormone were normal. A heterozygous G1138A mutation within the FGFR3 gene was detected, confirming the diagnosis of ACH. Thus, recombinant human GH therapy (0.1 IU/kg/day) was initiated. At the six-month follow-up, the height, arm span-to-height ratio and lower limb length-to-height ratio of the patient had increased, while the head circumference had decreased. The present results corroborate the finding that the G1138A mutation within FGFR3 is the most common ACH-causing mutation in different populations. GH may be beneficial in the treatment of short stature in ACH patients with subnormal GH secretion. PMID:26136890

  18. Regenerative Endodontic Treatment: Report of Two Cases with Different Clinical Management and Outcomes

    Directory of Open Access Journals (Sweden)

    Mehrfam Khoshkhounejad

    2015-11-01

    Full Text Available Endodontic intervention in necrotic immature permanent teeth is usually a clinical challenge. With appropriate case selection, regenerative treatment can be effective, providing a desirable outcome. However, there is still no consensus on the optimal disinfection protocol or the method to achieve predictable clinical outcome. This article presents two cases of regenerative treatment in necrotic immature teeth, using mineral trioxide aggregate (MTA and BiodentineTM as coronal barriers and different irrigants, which led to different clinical outcomes.

  19. Regenerative Endodontic Treatment: Report of Two Cases with Different Clinical Management and Outcomes.

    Science.gov (United States)

    Khoshkhounejad, Mehrfam; Shokouhinejad, Noushin; Pirmoazen, Salma

    2015-06-01

    Endodontic intervention in necrotic immature permanent teeth is usually a clinical challenge. With appropriate case selection, regenerative treatment can be effective, providing a desirable outcome. However, there is still no consensus on the optimal disinfection protocol or the method to achieve predictable clinical outcome. This article presents two cases of regenerative treatment in necrotic immature teeth, using mineral trioxide aggregate (MTA) and Biodentine(TM) as coronal barriers and different irrigants, which led to different clinical outcomes.

  20. Requirements for Clinical Trials with Gene Therapy and Transplant Products in Switzerland.

    Science.gov (United States)

    Marti, Andreas

    2015-01-01

    This chapter aims to describe and summarize the regulation of gene and cell therapy products in Switzerland and its legal basis. Product types are briefly described, as are Swiss-specific terminologies such as the term "transplant product," which means products manufactured from cells, tissues, or even whole organs. Although some parts of this chapter may show a guideline character, they are not legally binding, but represent the current thinking of Swissmedic, the Swiss Agency for Therapeutic Products. As so far the experience with marketing approval of gene therapy and cell therapy products in Switzerland is limited, this chapter focuses on the regulation of clinical trials conducted with these products. Quality, nonclinical, and clinical aspects are summarized separately for gene therapy products and transplant products.

  1. Clinical and therapeutic implications of presymptomatic gene testing for familial amyloidotic polyneuropathy (FAP).

    Science.gov (United States)

    Sales-Luís, Maria de Lourdes; Conceição, Isabel; de Carvalho, Mamede

    2003-08-01

    Presymptomatic gene testing for familial amyloidotic polyneuropathies (FAP) is integrated in genetic counseling protocols common to other "Later onset, hereditary, autosomal dominant, no cure diseases" namely Huntington's Disease (HD) and Machado-Joseph disease (MJD). However, presymptomatic gene testing has specific clinical and therapeutic implications for FAP. Moreover, at least in Portugal, FAP ATTR Val30Met is a serious health problem. The most important implications are: the possibility of family planning including prenatal and preimplantation diagnosis; treatment with liver transplantation (TX); clinical follow-up according to protocols for early diagnosis which will allow patients to access therapy in useful time. This concept of useful time in FAP treatment is discussed. The growing possibilities of different therapeutic approaches are considered. In conclusion, presymptomatic gene testing for FAP may have a positive impact on candidate quality and prolongation of life, and on the future of disease studies.

  2. The Role of Biomedical Knowledge in Diagnosis of Difficult Clinical Cases

    Science.gov (United States)

    Woods, Nicole N.; Brooks, Lee R.; Norman, Geoffrey R.

    2007-01-01

    Although biomedical knowledge is believed to be of little value in diagnosis of routine clinical cases, studies of clinical reasoning have found that physicians revert to use of basic biomedical knowledge when faced with challenging clinical problems. The current paper presents two experiments that empirically examine the role of biomedical…

  3. Analysis of clinical characteristics of 950 cases of cervical cancer

    Directory of Open Access Journals (Sweden)

    Shu-li ZHU

    2015-04-01

    Full Text Available Objective To discuss the clinical features of the patients suffering from cervical cancer who visited Daping Hospital affiliated to Third Military Medical University in recent 10 years. Methods The clinical data of the patients who were pathologically diagnosed as invasive cervical cancer in Daping Hospital of TMMU from Jan. 2004 to Dec. 2013 were retrospectively analyzed. They were divided into different age groups and analyzed according to age, clinical features, pathological type, and surgical approach. Results Clinical data of 950 patients with invasive cervical cancer were reviewed in this study. The mean age of the patients was 46.9 years. The clinical features, pathological type, and surgical approaches were different in different age groups. Analysis of the age structure of the patients, the onset age of cervical cancer seemed to increase year by year. Conclusion The clinical features of cervical cancer are diversity in different age, and the strategy for controlling its development should be varied according to age. DOI: 10.11855/j.issn.0577-7402.2015.03.09

  4. BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark

    DEFF Research Database (Denmark)

    Soegaard, M.; Kjaer, S.K.; Cox, M.;

    2008-01-01

    PURPOSE: To evaluate the prevalence of BRCA1 and BRCA2 mutations and associations with clinical correlates of disease in a population-based series of ovarian cancer cases from Denmark. METHODS: DNA sequencing and multiplex ligation-dependent probe amplification analysis were used to analyze...... the BRCA1 and BRCA2 genes for coding sequence mutations and large genomic rearrangements in 445 confirmed cases of ovarian cancer. We evaluated associations between mutation status and clinical characteristics, including cancer risks for first-degree relatives and clinicopathologic features of tumors....... RESULTS: Deleterious BRCA1 or BRCA2 mutations were identified in 26 cases; thus, mutations in these genes are responsible for at least 5.8% of ovarian cancer cases in this population. Five different mutations were identified in more than one individual, suggesting that they may be founder mutations...

  5. Clinical Case Reporting in the Peer-Reviewed Physical Therapy Literature: Time to Move Toward Functioning.

    Science.gov (United States)

    Davenport, Todd E

    2015-12-01

    Physical therapists increasingly are contributing clinical case reports to the health literature, which form the basis for higher quality evidence that has been incorporated into clinical practice guidelines. Yet, few resources exist to assist physical therapists with the basic mechanics and quality standards of producing a clinical case report. This situation is further complicated by the absence of uniform standards for quality in case reporting. The importance of including a concise yet comprehensive description of patient functioning in all physical therapy case reports suggest the potential appropriateness of basing quality guidelines on the World Health Organization's International Classification of Functioning Disability and Health (ICF) model. The purpose of this paper is to assist physical therapists in creating high-quality clinical case reports for the peer-reviewed literature using the ICF model as a guiding framework. Along these lines, current recommendations related to the basic mechanics of writing a successful clinical case report are reviewed, as well and a proposal for uniform clinical case reporting requirements is introduced with the aim to improve the quality and feasibility of clinical case reporting in physical therapy that are informed by the ICF model.

  6. Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome

    Directory of Open Access Journals (Sweden)

    Anthony M. Vandersteen

    2009-03-01

    Full Text Available Background and Objectives: A recent report highlighted the importance of considering a chromosomal abnormality in the differential diagnosis of adult clinical psychiatry. This case report illustrates the importance of considering Fragile X syndrome, an X-linked genetic disorder associated with psychiatric morbidities. Methods: A 45 years old woman was referred to the clinical genetics department by her psychiatrist for investigation of her gross obesity, hyperphagia, learning difficulties and affective disorder. Results: Cytogenetic analysis revealed a 47,XXX karyotype. Molecular testing identified an expansion of approximately 580 repeats in the FRAXA gene carried on two of her three copies of the X chromosome. Clinical evaluation revealed features consistent with the Prader-Willi like phenotype of Fragile X syndrome. Conclusions: It is important to consider molecular and cytogenetic testing in patients with dysmorphic features, complex neuro-behavioural profile and/or psychotic disorders in order to establish a causative diagnosis, provide adequate counselling and initiate cascade screening where applicable.

  7. Motor decline in clinically presymptomatic spinocerebellar ataxia type 2 gene carriers.

    Directory of Open Access Journals (Sweden)

    Luis Velázquez-Perez

    Full Text Available BACKGROUND: Motor deficits are a critical component of the clinical characteristics of patients with spinocerebellar ataxia type 2. However, there is no current information on the preclinical manifestation of those motor deficits in presymptomatic gene carriers. To further understand and characterize the onset of the clinical manifestation in this disease, we tested presymptomatic spinocerebellar ataxia type 2 gene carriers, and volunteers, in a task that evaluates their motor performance and their motor learning capabilities. METHODS AND FINDINGS: 28 presymptomatic spinocerebellar ataxia type 2 gene carriers and an equal number of control volunteers matched for age and gender participated in the study. Both groups were tested in a prism adaptation task known to be sensible to both motor performance and visuomotor learning deficits. Our results clearly show that although motor learning capabilities are intact, motor performance deficits are present even years before the clinical manifestation of the disease start. CONCLUSIONS: The results show a clear deficit in motor performance that can be detected years before the clinical onset of the disease. This motor performance deficit appears before any motor learning or clinical manifestations of the disease. These observations identify the performance coefficient as an objective and quantitative physiological biomarker that could be useful to assess the efficiency of different therapeutic agents.

  8. Clinical Severity of Clostridium difficile PCR Ribotype 027: A Case-Case Study

    Science.gov (United States)

    Morgan, Oliver W.; Rodrigues, Boaventura; Elston, Tony; Verlander, Neville Q.; Brown, Derek F. J.; Brazier, Jonathan; Reacher, Mark

    2008-01-01

    Background Clostridium difficile is a leading infectious cause of health care associated diarrhoea. Several industrialised countries have reported increased C. difficile infections and outbreaks, which have been attributed to the emergent PCR ribotype 027 strain. Methods and Findings We conducted a case-case study to compare severity of C. difficile disease for patients with 027 versus non-027 ribotypes. We retrospectively collected clinical information about 123/136 patients with C. difficile infections admitted to hospitals in the East of England region in 2006 and from whom stool isolates were cultured and ribotyped as part of an earlier national survey. We defined severe C. difficile disease as having one or more of shock, paralytic ileus, pseudo membranous colitis or toxic megacolon. Patient median age was 83 years old (range 3 to 98, interquartile range 75 to 89), 86% were prescribed antibiotics in the eight weeks before illness onset, 41% had ribotype 027 and 30-day all cause mortality during hospital admission was 21%. Severe disease occurred in 24% (95%CI 13% to 37%) and 17% (95%CI 9% to 27%) of patients with PCR ribotype 027 and non-027 ribotypes respectively. In a multivariable model, ribotype 027 was not associated with severe disease after adjusting for sex, discharge from hospital prior to 60 days of current admission, gastroenteritis on admission, number of initiator antibiotics for C. difficile disease, and hospital where the patient was admitted. Conclusions Our study found no evidence to support previous assertions that ribotype 027 is more virulent than other PCR ribotypes. This finding raises questions about the contribution of this strain to the recent increase in C. difficile disease throughout North America and Europe. PMID:18350149

  9. Refsum disease. Clinical and morphological report on a case.

    Science.gov (United States)

    Savettieri, G; Camarda, R; Galatioto, S; Bonavita, V

    1982-10-01

    An atypical case of Refsum disease is reported together with the peripheral nerve morphological data. The body fluids must be assayed for phytanic acid whenever an atypical chronic peripheral neuropathy is observed.

  10. Bacteriological and clinical evaluation of twelve cases of post ...

    African Journals Online (AJOL)

    2008-06-01

    Jun 1, 2008 ... from a case of osteosarcoma with necrotic tissues. the anaerobic bacteria were 100% sensitive to metronidazole ... metastases even after repeated surgical intervention ..... a patient to pulmonary aspergillosis (6) while.

  11. [Malignant duodenal fistulae of colonic origin (clinical case)].

    Science.gov (United States)

    Spay, G; Champetier, J; Manganas, D

    1996-01-01

    Duodenocolonic fistulas created by invasive cancer of the colon are rarely reported in the literature and their frequency is probably underestimated. We report 4 cases together with the problems encountered and therapeutic approaches used.

  12. [Neuropsychic manifestations of loaiasis. A clinical case of potomania].

    Science.gov (United States)

    Pays, J F; Ecalle, J C; Cornet, A; Brumpt, L

    1976-01-01

    The authors report a case of polyurodipsic syndrome in the course of a loasis. The patient recovered after a carbamazide treatment. The authors discuss the neuro-psychic symptoms in filarioses and their induction mode.

  13. [Multicentric reticulohistiocytosis: clinical and ultrastructural study of a case].

    Science.gov (United States)

    Peteiro, C; Fernández-Redondo, V; Zulaica, A; Caeiro, J L; Beiras, A; Toribio, J

    1987-01-01

    A case of multicentric reticulohistiocytosis associated with bilateral Dupuytren's disease and xanthelasmas of the eyelids is described. Ultrastructural examination showed electron-dense intracytoplasmic granules, collagen entrapment and interdigitation of adjacent cytoplasmic membranes.

  14. Analysis on clinical characteristics of intracranial Arachnoid Cysts in 488 pediatric cases.

    Science.gov (United States)

    Huang, Jian-Huang; Mei, Wen-Zhong; Chen, Yao; Chen, Jian-Wu; Lin, Zhi-Xiong

    2015-01-01

    To summarize the clinical characteristics of intracranial arachnoid cysts (IACs) in pediatric cases. A retrospective analysis was carried out on clinical characteristics of IACs in 488 pediatric cases who were treated at our hospital from January 2003 to September 2013. There were 342 males and 146 females (male-to-female ratio, 2.34:1), aged 5.61±3.25 years on average. 221 cases (45.29%) were diagnosed accidentally, 267 cases had clinical complaints (54.71%), among which relationships between clinical complaints and IACs were identified in 123 (46.07%). Simple IACs occurred in 364 cases (4.59%), and concurrent congenital abnormalities occurred in 124 cases (4.59%). In terms of location, 355 had IACs in middle cranial fossa (72.75%), 82 cases in posterior cranial fossa (16.80%), 20 cases in anterior cranial fossa (4.10%), 12 cases in dorsolateral surface (2.46%), 7 cases in suprasellar cistern (1.43%), 5 cases in cerebral ventricle (1.02%), 5 cases in quadrigeminal cistern (1.02%), and 2 cases in interhemispheric region (0.41%). There were 449 cases with single IAC (92.01%) and 39 cases with multiple IACs (7.99%). On MRI, the cysts produced tension in 127 cases (26.02%), but not in the remaining 361 cases (73.98%). Surgery was performed on 76 of 488 cases (15.57%), while conservative observation was accepted in 412 cases (84.43%). For the former, the symptoms and the cyst volume were improved to varying extent; for the latter, the follow-up lasting for 3-72 months (average 32.43±8.92 months) showed that the cyst volume remained stable in 407 cases (98.78%), enlarged with aggravated symptoms in 3 cases (0.73%), and shrank in 2 cases (0.49%). Clinical complaints of IACs varied in pediatric cases, and the relationships between clinical complaints and IACs were established only partially. Some pediatric cases were combined with other congenital abnormalities. The cyst volume largely remained stable during the disease course, and surgery was required for only a few

  15. Differential case reporting in a national clinical quality database

    DEFF Research Database (Denmark)

    Mårtensson, Solvej; Frederiksen, Birgitte Lidegaard; De Nully Brown, Peter

    2012-01-01

    Selection biases due to difference in reporting may cause spurious findings. The purpose of this study was to illustrate the effect of case incompleteness on the differences in 180-day survival rate when comparing departments.......Selection biases due to difference in reporting may cause spurious findings. The purpose of this study was to illustrate the effect of case incompleteness on the differences in 180-day survival rate when comparing departments....

  16. Clinical Needs Finding: Developing the Virtual Experience, A Case Study

    Science.gov (United States)

    Mittal, Vaishali; Thompson, Megan; Altman, Stuart M; Taylor, Peter; Summers, Alexander; Goodwin, Kelsey; Louie, Angelique Y

    2013-01-01

    We describe an innovative program at the University of California, Davis for students to engage in clinical needs finding. Using a team-based approach, students participated in clinical rotations to observe firsthand the needs of clinicians at the university affiliated medical center. The teams were asked to develop documentary-style videos to capture key experiences that would allow future viewers to use the videos as “virtual” clinical rotations. This was conceived as a strategy to allow students in prohibitively large classes, or students in programs at institutions without associated medical or veterinary school programs, to experience clinical rotations and perform needs assessments. The students' perspectives on the experience as well as instructor analysis of best practices for this type of activity are presented and discussed. We found that the internship experience was valuable to the students participating, by not only introducing the practice of needs finding but for increasing the students' confidence in the practice of engineering design and their ability to work independently. The videos produced were of such high quality that instructors from other institutions have requested copies for instructional use. Virtual clinical rotations through video experiences may provide a reasonable substitute for students who do not have the ability to participate in rotations in person. PMID:23483373

  17. Supreme Court to hear Florida clinic access case.

    Science.gov (United States)

    1994-04-15

    On April 27, 1994, the US Supreme Court will review a Florida Supreme Court decision ensuring access to women's health clinics that offer abortion services. In October 1993, the Florida High Court determined that an order issued by Brevard/Seminole County Circuit Judge Robert McGregor that requires anti-abortion protestors to remain 36 feet from the clinic grounds, prohibits approaching any clinic patient within 300 feet of the facility, bars excessive noise during clinic hours, and creates a 300 foot safety zone around the homes of clinic staff was reasonable. Anti-abortion activists had challenged Judge McGregor's injunction, maintaining that it violated their First Amendment rights and was overboard. Days before the Florida High Court ruling, however, the US Court of Appeals for the Eleventh Circuit had rejected Judge McGregor's injunction as unconstitutional. Although the appeal to the US Supreme Court, Madsen vs Women's Health Center, was filed by anti-abortion activists, pro-choice groups are supporting the review as a means of resolving the confusion created by conflicting state and federal rulings.

  18. Analysis of Genes Encoding Penicillin-Binding Proteins in Clinical Isolates of Acinetobacter baumannii ▿ †

    Science.gov (United States)

    Cayô, Rodrigo; Rodríguez, María-Cruz; Espinal, Paula; Fernández-Cuenca, Felipe; Ocampo-Sosa, Alain A.; Pascual, Álvaro; Ayala, Juan A.; Vila, Jordi; Martínez-Martínez, Luis

    2011-01-01

    There is limited information on the role of penicillin-binding proteins (PBPs) in the resistance of Acinetobacter baumannii to β-lactams. This study presents an analysis of the allelic variations of PBP genes in A. baumannii isolates. Twenty-six A. baumannii clinical isolates (susceptible or resistant to carbapenems) from three teaching hospitals in Spain were included. The antimicrobial susceptibility profile, clonal pattern, and genomic species identification were also evaluated. Based on the six complete genomes of A. baumannii, the PBP genes were identified, and primers were designed for each gene. The nucleotide sequences of the genes identified that encode PBPs and the corresponding amino acid sequences were compared with those of ATCC 17978. Seven PBP genes and one monofunctional transglycosylase (MGT) gene were identified in the six genomes, encoding (i) four high-molecular-mass proteins (two of class A, PBP1a [ponA] and PBP1b [mrcB], and two of class B, PBP2 [pbpA or mrdA] and PBP3 [ftsI]), (ii) three low-molecular-mass proteins (two of type 5, PBP5/6 [dacC] and PBP6b [dacD], and one of type 7 (PBP7/8 [pbpG]), and (iii) a monofunctional enzyme (MtgA [mtgA]). Hot spot mutation regions were observed, although most of the allelic changes found translated into silent mutations. The amino acid consensus sequences corresponding to the PBP genes in the genomes and the clinical isolates were highly conserved. The changes found in amino acid sequences were associated with concrete clonal patterns but were not directly related to susceptibility or resistance to β-lactams. An insertion sequence disrupting the gene encoding PBP6b was identified in an endemic carbapenem-resistant clone in one of the participant hospitals. PMID:21947403

  19. Differences in the clinical-epidemiological profile between new cases of tuberculosis and retreatment cases after default

    Directory of Open Access Journals (Sweden)

    Aylana de Souza Belchior

    Full Text Available Abstract OBJECTIVE To identify the socioeconomic and clinical-epidemiological factors related to tuberculosis in new cases and retreatment cases. METHOD Comparative study with 126 patients, of which 42 were retreatment cases after default attended in a reference center, and 84 were new cases completing the first treatment and treated in Basic Health Units. The collection of primary data was through interview, and of secondary data by records of the Notifiable Diseases Information System. Comparative analysis between the two groups. RESULTS The new cases differ from retreatment cases regarding educational level. The clinical-epidemiological profile shows a significant difference in relation to performance of the tuberculin skin test, and the HIV test result (positive in favor of new cases. In relation to performance of sputum culture and the result (positive of the first sputum smear of the first and second samples, in favor of retreatment cases. CONCLUSION The two groups are significantly different in clinical and epidemiological characteristics that show the access to exams.

  20. A Children's Divorce Clinic: Analysis of 200 Cases in Hawaii.

    Science.gov (United States)

    Waldron, Jane A.; And Others

    1986-01-01

    Analyzes data from children and families seen at the Children's Divorce Clinic. Finds that preschool children are often told nothing about the divorce and that ethnically mixed marriages tended to fail before nonmixed marriages. Reports data concerning custody and parents' emotional response to the divorce. (Author/ABB)

  1. Photonuclear reactions with zinc : A case for clinical linacs

    NARCIS (Netherlands)

    Boztosun, I.; Dapo, H.; Karakoc, M.; Ozmen, S. F.; Cecen, Y.; Coban, A.; Caner, T.; Bayram, E.; Saito, T. R.; Akdogan, T.; Bozkurt, V.; Kucuk, Y.; Kaya, D.; Harakeh, M. N.

    2015-01-01

    The use of bremsstrahlung photons produced by a linac to induce photonuclear reactions is wide spread. However, using a clinical linac to produce the photons is a new concept. We aimed to induce photonuclear reactions on zinc isotopes and measure the subsequent transition energies and half-lives. Fo

  2. Triploid pregnancies, genetic and clinical features of 158 cases

    DEFF Research Database (Denmark)

    Joergensen, Mette W; Niemann, Isa; Rasmussen, Anders A

    2014-01-01

    OBJECTIVE: The purpose of this study was to analyze the correlation between the genetic constitution and the phenotype in triploid pregnancies. STUDY DESIGN: One hundred fifty-eight triploid pregnancies were identified in hospitals in Western Denmark from April 1986 to April 2010. Clinical data a...

  3. [Subperiosteal mandibular implant. Clinical cases and microscopic study].

    Science.gov (United States)

    Rosson, J O

    1990-04-01

    Subperiosteal surgical Vitallium implants have been set in the mandible of patients with loss of height of the osseous ridge and difficulty in the use of prostheses obtaining very good clinical and radiographical results. The optic microscopy showed a great tendency of adhesion of the gingiva's junctional epithelium to the implant.

  4. The politics of nursing: a case study--clinical grading.

    Science.gov (United States)

    Gavin, J N

    1995-08-01

    This paper is a study of the clinical grading policy for nurses in the United Kingdom and the extent to which the participating groups in the policy development process realized their objectives. The study is based on the literature available at the time of the research and the results of structured interviews with a range of individuals involved in the policy process. The results expose the cleavages between the different representative groups on the staff side. They also shed light on the differing power bases of the groups involved. In particular, they expose the weakness of nursing as a professional pressure group and the strength of the state and its agents in determining the outcomes of policy in the public arena. It is suggested that this weakness vis-à-vis the state is responsible for the failure of nurses to achieve a reward system which recognizes the value of clinical nursing expertise, and that the 'clinical grading' system, in practice, is having the opposite effect. The policy is explored from its origins, its acceptance on to the political agenda, its negotiation and agreement, its contentious implementation, the final outcomes, and its failure to establish a valid 'clinical' pay structure.

  5. Detection of Intracellular Adhesion (ica and Biofilm Formation Genes in Staphylococcus aureus Isolates from Clinical Samples

    Directory of Open Access Journals (Sweden)

    Khadije Rezaie Keikhaie

    2017-02-01

    Full Text Available Introduction: Nosocomial infections that result in the formation of biofilms on the surfaces of biomedical implants are a leading cause of sepsis and are often associated with colonization of the implants by Staphylococcus epidermidis. Biofilm formation is thought to require two sequential steps: adhesion of cells to a solid substrate followed by cell-cell adhesion, creating multiple layers of cells. Intercellular adhesion requires the polysaccharide intercellular adhesion (PIA, which is composed of linear β-1, 6-linked glucosaminylglycans and can be synthesized in vitro from UDP-N-acetylglucosamine by products of the intercellular adhesion (ica locus. We have investigated a variety of Staphylococcus aureus strains and find that all strains tested contain the ica locus and that several can form biofilms in vitro. Material and Method: A total of 31 clinical S. aureus isolates were collected from Zabol, Iran. In vitro biofilm formation ability was determined by microliter tissue culture plates. All clinical isolates were examined for determination the ica locus by using PCR method. Result: The results of this study showed that 40 strains of Staphylococcus aureus, 12 strains carrying the gene Cocos icaA (30% and 8 strains carrying the gene icaD (20% and the number of five strains (12.5% containing both genes ica A and has been ica D. Conclusions:  S. aureus clinical isolates have different ability to form biofilm. This may be caused by the differences in the expression of biofilm related genes, genetic make-up and physiological conditions.

  6. Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa.

    Science.gov (United States)

    Lubala, Toni Kasole; Mukuku, Olivier; Shongo, Mick Pongombo; Mutombo, Augustin Mulangu; Lubala, Nina; Luboya, Oscar Numbi; Lukusa-Tshilobo, Prosper

    2015-01-01

    The objective of this report is to describe the first patient presenting clinical features of trisomy 13 in association with a sacrococcygeal teratoma. We present the case of a Congolese female infant born with bilateral cleft lip and palate, hypotelorism, microcephaly, and capillary hemangioma on her face. She presented with a large sacrococcygeal mass (15.0 cm ×12.0 cm ×5.0 cm) with a cystic consistency and a positive transillumination. This observation suggests that overexpression of certain genes on chromosome 13 may lead to tumor formation from remnant cells of Hensen's node.

  7. Mazabraud's syndrome. New clinical case and review of findings.

    Science.gov (United States)

    Ramírez Mejía, Alex Roberto; Moreno Casado, María José; Ahumada Pavez, Nicolás Rodrigo; Rojas Soldado, María Ángeles

    Intramuscular myxomas are benign and rare tumors that affects predominantly the lower limbs. The association of myxomas and fibrous dysplasia, usually polyostotic, is rarer. This association is known as Mazabraud's syndrome, of which about 81 cases have been described in the literature. We present a new case of this uncommon association to emphasise the importance of recognizing this syndrome in the diagnosis and appropriate management of the patient. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  8. [Lymphangiomatosis of the spleen. Report of a clinical case].

    Science.gov (United States)

    Talarico, C; Cerasoli, V; Mancini, B; Mulieri, G; Cancellario D'Alena, F; Montemurro, L; Verna, F

    2000-01-01

    Lymphangiomatosis confined to the spleen is a very are condition. The authors in this article describes one new case and briefly reviews the literature. In this case, after the exclusion of an hydatidosis of the spleen, a total splenectomy was performed. The histologic findings confirmed the lymphangiomatosis of the spleen. The authors emphasize the surgical strategy in splenic lymphangiomyomatosis, infact the total splenectomy is mandatory, because the splenic parenchyma is nearly completely substitute by the cysts. For this reason is preferably, before surgery, to perform the antibateric profilaxis against the OPSI.

  9. Self-guided clinical cases for medical students based on postmortem CT scans of cadavers.

    Science.gov (United States)

    Bohl, Michael; Francois, Webster; Gest, Thomas

    2011-07-01

    In the summer of 2009, we began full body computed tomography (CT) scanning of the pre-embalmed cadavers in the University of Michigan Medical School (UMMS) dissection lab. We theorized that implementing web-based, self-guided clinical cases based on postmortem CT (PMCT) scans would result in increased student appreciation for the clinical relevance of anatomy, increased knowledge of cross-sectional anatomy, and increased ability to identify common pathologies on CT scans. The PMCT scan of each cadaver was produced as a DICOM dataset, and then converted into a Quicktime movie file using Osirix software. Clinical cases were researched and written by the authors, and consist of at least one Quicktime movie of a PMCT scan surrounded by a novel navigation interface. To assess the value of these clinical cases we surveyed medical students at UMMS who are currently using the clinical cases in their coursework. Students felt the clinical cases increased the clinical relevance of anatomy (mean response 7.77/10), increased their confidence finding anatomical structures on CT (7.00/10), and increased their confidence recognizing common pathologies on CT (6.17/10). Students also felt these clinical cases helped them synthesize material from numerous courses into an overall picture of a given disease process (7.01/10). These results support the conclusion that our clinical cases help to show students why the anatomy they are learning is foundational to their other coursework. We would recommend the use of similar clinical cases to any medical school utilizing cadaver dissection as a primary teaching method in anatomy education.

  10. Molecular detection of aminoglycoside-modifying enzyme genes in Acinetobacter baumannii clinical isolates.

    Science.gov (United States)

    Heidary, Mohsen; Salimi Chirani, Alireza; Khoshnood, Saeed; Eslami, Gita; Atyabi, Seyyed Mohammad; Nazem, Habibollah; Fazilati, Mohammad; Hashemi, Ali; Soleimani, Saleh

    2016-12-16

    Acinetobacter baumannii is a major opportunistic pathogen in healthcare settings worldwide. In Iran, there are only few reports on the prevalence of aminoglycoside resistance genes among A. baumannii isolates. The aim of this study was to investigate the existence of aminoglycoside-modifying enzyme (AME) genes from A. baumannii strains collected at a university teaching hospital in Iran. One hundred A. baumannii strains were collected between 2014 and 2015 from hospitalized patients at Loghman Hakim Hospital, Tehran, Iran. Antimicrobial susceptibility was determined by disk diffusion method according to the Clinical and Laboratory Standards Institute recommendations. The DNA was extracted using a kit obtained from Bioneer Co. (Korea) and was used as a template for polymerase chain reaction. The most active antimicrobial agent against these strains was colistin. The rate of extended-spectrum cephalosporin resistance was 97%. The aadA1, aadB, aac(6')-Ib, and aac(3)-IIa genes were found in 85%, 77%, 72%, and 68% of A. baumannii isolates, respectively. This study showed a high prevalence rate of AME genes in A. baumannii. This prevalence rate has explained that further aminoglycoside resistance genes may have role in the resistance of clinical isolates of A. baumannii. Therefore, control and treatment of serious infections caused by this opportunistic pathogen should be given more consideration.

  11. Distribution of 13 virulence genes among clinical and environmental Aeromonas spp. in Western Australia.

    Science.gov (United States)

    Aravena-Román, M; Inglis, T J J; Riley, T V; Chang, B J

    2014-11-01

    We evaluated the pathogenic potential of 98 clinical and 31 environmental Aeromonas isolates by detecting the presence of 13 virulence genes using a polymerase chain reaction (PCR)-based method. The majority (96 %) of the strains contained at least one of the virulence genes. The overall distribution was aerA/haem (77 %), alt (53 %), lafA (51 %), ast (39 %), flaA (32 %), aspA (29 %), vasH (26 %), ascV (16 %) and aexT (13 %). No amplification products were detected for the genes encoding a bundle-forming pilus (BfpA and BfpG) or a Shiga-like toxin (stx-1 and stx-2). Five or more virulence genes were detected in 42 % of environmental and 24 % of clinical isolates. Among the major species, 48 % of A. hydrophila and 42 % of A. dhakensis isolates harboured five or more virulence genes compared with 19 % in A. veronii bv. sobria and none in A. caviae isolates. Our results suggest that, in Western Australia, strains of A. dhakensis and A. hydrophila are potentially more virulent than those of A. veronii bv. sobria and A. caviae, although the pathogenic potential of Aeromonas spp. is probably strain- rather than species-dependent.

  12. Multiplexed methylation profiles of tumor suppressor genes and clinical outcome in lung cancer

    Directory of Open Access Journals (Sweden)

    Venditti Julio

    2010-09-01

    Full Text Available Abstract Background Changes in DNA methylation of crucial cancer genes including tumor suppressors can occur early in carcinogenesis, being potentially important early indicators of cancer. The objective of this study was to examine a multiplexed approach to assess the methylation of tumor suppressor genes as tumor stratification and clinical outcome prognostic biomarkers for lung cancer. Methods A multicandidate probe panel interrogated DNA for aberrant methylation status in 18 tumor suppressor genes in lung cancer using a methylation-specific multiplex ligation-dependent probe amplification assay (MS-MLPA. Lung cancer cell lines (n = 7, and primary lung tumors (n = 54 were examined using MS-MLPA. Results Genes frequently methylated in lung cancer cell lines including SCGB3A1, ID4, CCND2 were found among the most commonly methylated in the lung tumors analyzed. HLTF, BNIP3, H2AFX, CACNA1G, TGIF, ID4 and CACNA1A were identified as novel tumor suppressor candidates methylated in lung tumors. The most frequently methylated genes in lung tumors were SCGB3A1 and DLC1 (both 50.0%. Methylation rates for ID4, DCL1, BNIP3, H2AFX, CACNA1G and TIMP3 were significantly different between squamous and adenocarcinomas. Methylation of RUNX3, SCGB3A1, SFRP4, and DLC1 was significantly associated with the extent of the disease when comparing localized versus metastatic tumors. Moreover, methylation of HTLF, SFRP5 and TIMP3 were significantly associated with overall survival. Conclusions MS-MLPA can be used for classification of certain types of lung tumors and clinical outcome prediction. This latter is clinically relevant by offering an adjunct strategy for the clinical management of lung cancer patients.

  13. Prevalence of aac(3-IIa gene among clinical isolates of uropathogenic Escherichia coli in Delfan, Lorestan

    Directory of Open Access Journals (Sweden)

    Somayeh Momeni Mofrad

    2013-09-01

    Full Text Available Backgrounds: Uropathogenic Escherichia coli strains are the predominant causative organisms of urinary tract infections (UTIs. Aminoglycosides are clinically useful antibiotics with bactericidal activity against this bacterium. The most common mechanism for resistance to these antibiotics are mediated through production of aminoglycoside modifying enzymes (AMEs. The most common of these enzymes are Aminoglycoside Acetyltransferases (AACs. The epidemiology of the dominant type of these enzymes, AAC(3-II, varies from region to region. The aim of this study was to determine the antimicrobial susceptibility pattern with a focus on aminoglycosides and the prevalence of aac(3-IIa gene among clinical isolates of uropathogenic Escherichia coli obtained from Delfan, Lorestan, Iran. Materials and Methods: In this descriptive study, a total of 100 uropathogenic Escherichia coli isolates were collected from BoAli hospital in Delfan city, Lorestan, from July to November 2010. Antibiotic susceptibility patterns of the isolates were determined using disk diffusion method according to Clinical and Laboratory Standards Institute CLSI guidelines. Prevalence of aac(3-IIa gene was determined by PCR and the relationship between resistance phenotypes to aminoglycosides and presence of aac(3-IIa gene was evaluated. Results: Among the 100 tested isolates, maximal resistance was seen to ampicillin (85%; whereas, no resistance to imipenem was found. Sixty percent of the isolates demonstrated resistance to at least one of the tested aminoglycosides. Resistance rate towards these agents were as followed: gentamicin 39%, kanamycin 26%, neomycin 31% and amikacin 1%. Forty–four isolates (44% harbored the aac(3-IIa gene. The maximal rate of gene presence (36 isolates, 92.3% was detected in strains with gentamicin resistant phenotype (39 isolates, 39%. Conclusion: On the basis of our findings, use of antibiotics such as nitrofurantoin, amikacin or imipenem are recommended for

  14. [Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].

    Science.gov (United States)

    Liu, Qi; Zhao, Juan; Wang, Zhao-xia; Zhang, Wei; Yuan, Yun

    2013-07-02

    To explore the clinical features and acid alpha-glucosidase (GAA) gene mutations of Chinese patients with glycogen storage disease typeII(GSDII). Seven patients with GSDII were diagnosed by muscle pathology examination at Department of Neurology, Peking University First Hospital from 2003 to 2011. One patient with infant-onset presented development retardation, generalized muscle weakness, dyspnea, cardiomegaly and hepatomegaly. Six cases were of late-onset ranging from 1 to 29 years. Their main clinical features included progressive muscle weakness. Two patients developed respiratory insufficiency. Increased serum creatine kinase was detected in all of them. Electromyography studies showed myopathic (n = 5) and neuropathic (n = 1) changes. Muscle biopsies showed basophilic vacuoles in muscle fibers containing a large amounts of glycogen on electron microscopy. GAA gene mutation was detected by direct sequencing of polymerase chain reaction (PCR) product. Novel mutations were screened in 100 normal controls. GAA gene mutations were found in all of them, including 10 point mutations and 1 frameshift deletion. Six mutations (p. P361L, p. P266S, p.R437C, p.R600C, p.W746S and p.W746*) have been reported before. And five novel mutations (p.R168Q, p.R168P, p.E521V, p.R594H and c.827_845del) were found in this study. None of these novel mutations were found in 100 normal controls except for p.R168Q mutation in two normal controls. p. P361L and p.W746* were detected in two unrelated GSDII patients while other mutations were carried by only one patient. In our study, we found several novel GAA mutations in Chinese patients with GSDII. No hot spot mutation of GAA gene existed in our patient group. However, p. P266S, p. P361L and p.R437C might be associated with late-onset GSDII.

  15. Primary appendiceal mucinous adenocarcinoma alongside with situs inversus totalis: a unique clinical case

    Directory of Open Access Journals (Sweden)

    Evangelou Konstantinos

    2010-06-01

    Full Text Available Abstract Introduction Mucinous adenocarcinoma is a rare neoplasm of the gastrointestinal tract and one of the three major histological subtypes of the primary appendiceal adenocarcinoma. The most common type of presentation is that of acute appendicitis and the diagnosis is usually occurred after appendectomy. The accurate preoperative diagnosis and management of the above condition represents a real challenge when uncommon anatomic anomalies such intestinal malrotation and situs inversus take place. Situs inversus totalis with an incidence of 0.01% is an uncommon condition caused by a single autosomal recessive gene of incomplete penetration in which the major visceral organs are mirrored from their normal positions. Case presentation We present an unusual case of a 59 years old, previously healthy man presented with a left lower quadrant abdominal pain, accompanied with low fever, leukocytosis, anorexia and constipation. A chest radiograph demonstrated dextrocardia with a right side positioned stomach bubble. Both preoperative US and CT scan of the abdomen and pelvis declared situs inversus, with a characteristic thickening in its wall, appendix situated in the left lower quadrant of the abdomen. These findings reached to the diagnosis of acute appendicitis with situs inversus and a standard appendicectomy was performed. Pathologic evaluation established primary mucinous adenocarcinoma of the appendix and three months afterwards the patient underwent a subsequent extended left hemicolectomy. Conclusion In conclusion, the occurrence of primary appendiceal mucinous adenocarcinoma along with situs inversus, definitely accounts as a unique clinical case. Even synchronous manifestation of primary mucinous adenocarcinoma of the appendix and situs inversus totalis represents an unusual anatomo-pathological entity, all physicians should be familiar having the knowledge to make an appropriate and accurate diagnosis that will lead to prompt and correct

  16. Clinical features and diagnosis for Chinese cases with malignant hyperthermia: a case cluster from 2005 to 2007

    Institute of Scientific and Technical Information of China (English)

    WANG Ying-lin; LUO Ai-lun; TAN Gang; CUI Xu-lei; GUO Xiang-yang

    2010-01-01

    Background Malignant hyperthermia (MH), manifesting as MH crisis during and/or after general anesthesia, is a potentially fatal disorder in response to volatile anesthetics and depolarizing muscle relaxants.Though typical features of MH episode can provide clues for clinical diagnosis, MH susceptibility is confirmed by in vitro caffeine-halothane contracture test (CHCT) in western countries.It is traditionally thought that MH has less incidence and fewer typical characteristics in Chinese population than their western counterparts because of the different genetic background.In this study, we investigated the clinical features of MH in Chinese cases and applied the clinical grading scale and CHCT for diagnosis of MH.Methods A cluster of three patients with MH, from January 2005 to December 2007, were included in the study.Common clinical presentations and the results of some lab examinations were reported in detail.The method of the clinical grading scale of diagnosis of MH was applied to estimate the qualitative likelihood of MH and predict MH susceptibility.Muscle fibers of femoral quadriceps of the patients were collected and CHCT was performed to confirm the diagnosis of MH.Results The clinical grading scales of diagnosis of the disease for these cases were all ranked grade D6, suggesting almost diagnosed ones.And the results of caffeine test were positive correspondingly, indicating that the patients should be diagnosed as MH susceptibility (MHS) according to diagnostic criteria of the North America MH group, which were already confirmed by clinical presentations and biochemical results.Conclusions These Chinese cases manifest as MH crisis.The clinical grading scale of diagnosis of MH may provide clues for clinical diagnosis.CHCT can also be used in confirming diagnosis of MH in Chinese cases though they have different genetic background from their western counterparts.

  17. A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS but without an obvious genetic cause: a case report

    Directory of Open Access Journals (Sweden)

    Abu-Amero Khaled K

    2009-10-01

    Full Text Available Abstract Introduction There are currently 23 missense point mutations and one 4 basepair deletion spanning different mitochondrial genes associated with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS. The spectrum of mitochondrial DNA mutations in Arab patients with MELAS is largely unknown. Case presentation A standard clinical examination was carried out on a 34-year-old Saudi woman showing clinical features of MELAS. Fresh frozen muscle tissue was subjected to enzyme histochemical analysis. DNA was extracted from her leukocytes and muscle tissue, and the full mitochondrial genome was screened for base substitution mutations and deletions. Additionally, we screened the polymerase gamma-1 nuclear gene for mutations. The patient was negative for the most common m.3243 A>G MELAS mutation. Sequencing the full mitochondrial genome did not reveal any known or potentially pathogenic sequence changes. The polymerase gamma-1 gene was also free from mutations. Conclusion The clinical picture described here typically fits that observed in patients with MELAS or mitochondrial stroke-like events, but mutations in recognized genes (mitochondrial DNA and polymerase gamma-1 gene were absent. We report the case of a patient with typical clinical features of MELAS, but without an obvious genetic cause.

  18. PRODUCT GENE REPRESENTATION AND ACQUISITION METHOD BASED ON POPULATION OF PRODUCT CASES

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    The representation and acquisition of a product gene is a crucial problem in product evolutionary design. A new methodology of product gene representation and acquisition from a population of product cases is proposed, and the methodology for product evolutionary design based on a population of product cases is realized. By properly classifying product cases according to its product species, the populations of product cases are divided and a model is established. Knowledge of the scheme design is extracted and formulated as the function base, principle base, and structure base, which are then combined to form a product gene. Subsequently, the product gene tree is created and represented by object-oriented method. Then combining this method with the evolutionary reasoning technology, an intelligent and automatic evolutionary scheme design of product based on the population of product cases is realized. This design method will be helpful in the processing of knowledge formulation, accumulation, and reuse, and in addressing the difficulty of acquiring design knowledge in traditional design. In addition, the disadvantages of manual case adaptation and update in case-based reasoning can be eliminated. Moreover, by optimizing the design scheme in multiple levels and aspects of product function, principle, and structure etc., the level of creativity in the scheme design can be improved.

  19. Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer

    Directory of Open Access Journals (Sweden)

    Rachinger Andrea

    2008-10-01

    Full Text Available Abstract Background In recent years, numerous studies have investigated somatic mutations in mitochondrial DNA in various tumours. The observed high mutation rates might reflect mitochondrial deregulation; consequently, mutation analyses could be clinically relevant. The purpose of this study was to determine if mutations in the mitochondrial D-loop region and/or the level of mitochondrial gene expression could influence the clinical course of human ovarian carcinomas. Methods We sequenced a 1320-base-pair DNA fragment of the mitochondrial genome (position 16,000-750 in 54 cancer samples and in 44 corresponding germline control samples. In addition, six transcripts (MT-ATP6, MT-CO1, MT-CYB, MT-ND1, MT-ND6, and MT-RNR1 were quantified in 62 cancer tissues by real-time RT-PCR. Results Somatic mutations in the D-loop sequence were found in 57% of ovarian cancers. Univariate analysis showed no association between mitochondrial DNA mutation status or mitochondrial gene expression and any of the examined clinicopathologic parameters. A multivariate logistic regression model revealed that the expression of the mitochondrial gene RNR1 might be used as a predictor of tumour sensitivity to chemotherapy. Conclusion In contrast to many previously published papers, our study indicates rather limited clinical relevance of mitochondrial molecular analyses in ovarian carcinomas. These discrepancies in the clinical utility of mitochondrial molecular tests in ovarian cancer require additional large, well-designed validation studies.

  20. Clinical Vampirism: a review and illustrative case report

    African Journals Online (AJOL)

    Adele

    encyclopaedia of metaphysical medicine.15 This definition ... does not have roots in traditional African culture or folklore and thus this case is worth examining due to the unusual nature .... eat branches and leaves of trees, and would also try to cook ... Treatment with risperidone was commenced. Thabo was admitted to our.

  1. Intracranial actinomycosis: Varied clinical and radiologic presentations in two cases

    Directory of Open Access Journals (Sweden)

    Sandeep Mohindra

    2012-01-01

    Full Text Available Two patients with primary actinomycotic brain infection are presented here. The first case had 2 predisposing factors, cardiac septal defect and chronic mastoiditis, whereas the second patient was a chronic smoker, belonging to a desert region. Both the patients were successfully managed with surgical debridement and prolonged administration of antibiotics.

  2. [Hemidiaphragmatic reconstruction: the evaluation of 3 clinical cases].

    Science.gov (United States)

    Cristofani, R; Burattini, M F; Campi, P; Morabito, A; Servoli, A; Moriconi, E; Ricci, E; Scalercio, V; Lauro, V; Bartoli, A

    1995-01-01

    The Authors after a review of the embriology, physiology and pathophysiology of diaphragm, report three cases of congenital or acquired diaphragmatical hernias. They discuss advantages and disadvantages of different surgical techniques on the basis of their technical experience as well as results obtained.

  3. [Hepato-splenic hemangiosarcoma: presentation of a clinical case].

    Science.gov (United States)

    Antoniello, L; Cohen, H; Rondán, M; Rodríguez, J; Fosman, E

    1989-09-01

    A 65-year-old farmer who had used arsenic as a plaguicide for many years developed a hepatosplenic hemangiosarcoma with metastasis in the colonic serosa, mesentery and omental. The tumor was complicated with intraabdominal hemorrhage originated by spontaneous intraperitoneal rupture. The echographic and post-mortem findings are presented. This is the first case of hepatic hemangiosarcoma reported in Uruguay.

  4. Clinical evaluation of multiple exostoses (17 cases) on bonescintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Yamada, Takayuki; Nakamura, Mamoru; Sugita, Reiji; Satou, Akihiro; Sakamoto, Kiyohiko (Tohoku Univ., Sendai (Japan). School of Medicine)

    1991-03-01

    Seventeen patients with multiple exostoses were examined on bone scintigraphy. Inheritance was recognized on seven patients (41%). Onset age of 15 patients was under 20 years old and 10 patients were under 10. The number of lesions was 211 and they were usually recognized at metaphyses of long bones. The degree of accumulation was classified into four grades: 0 (non increased), 1 (slightly-mild), 2 (moderate), and 3 (strong). One hundred and fifty-three lesions (73%) did not show definite increased activity (Grade 0, 1). Grade 3 included 14 lesions and they tended to be strongly calcified on X-P. This disease was said to transform into chondrosarcoma in 10 to 20%. Transformation was said to occur preferably in adults at heavily calcified lesion or one which showed irregularly thick hyaline cartilage. Such lesions showed more increased accumulation than normal bones. In our cases three cases were resected for this reason but turned out to be benign histologically. One case showed malignant transformation. In this case, a large malignant tumor replaced the parent bone and bone scan showed the cold lesion. Bone scintigraphy was considered useful to evaluate the biological activity of multiple exostoses. (author).

  5. [Bilateral hyperplasia of the coronoid apophyses. A clinical case].

    Science.gov (United States)

    Parascandolo, S; Rusciano, A; Tamai, M; Morlino, M

    1993-03-01

    The authors report on the case of a young patient affected with bilateral hyperplasia of the coronoid apophyses, who presented a serious reduction of the mandibular excursion. Normal mouth opening was re-established by a bilateral osteotomy with endoral removal of the coronoid apophyses.

  6. Digital Device in Postextraction Implantology: A Clinical Case Presentation

    National Research Council Canada - National Science Library

    Borgonovo, A. E; Rigaldo, F; Battaglia, D; Re, D; Giannì, A. B

    2014-01-01

    ... impression of the implant site with an intraoral scanner (MHT 3D Progress, Verona, Italy). Case Report. A 46-year-old female was referred with a disorder caused by continuous debonding of the prosthetic crown on the upper right first premolar...

  7. Review of clinical experience in handling phosgene exposure cases

    Energy Technology Data Exchange (ETDEWEB)

    Regan, R.A.

    1985-10-01

    In summary, we have described our method of treating phosgene inhalation injury. We have presented two serious cases in detail which demonstrate that survival was associated with aggressive therapy. Several points should be mentioned. The pulmonary edema and resulting fluid and foam production can be so copious as to overwhelm efforts to place an endotracheal tube. The solution is early intubation by the nearest experienced person at the first hint of edema or pulmonary failure. Adequate support of the patient's blood volume is imperative to avert hypovolemic shock and renal failure. A balloon flotation catheter is desirable to monitor pulmonary wedge pressure and avoid overload. Follow-up pulmonary function studies and chest x-rays are recommended 2-3 months after hospital discharge. We have not yet found a reliable test to determine which cases will progress to pulmonary edema. The LDH appears to be the only consistently elevated sign in more serious cases. Finally, we would like to make a plea for the sharing of information from instances of fatal phosgene injury so that the facts can be studied and applied to future cases.

  8. [Clinical case. Correction of Angle Class I with biprotrusion].

    Science.gov (United States)

    Petrelli, E; Baptista, J M

    1989-01-01

    The presentation of this case report shows the dentoalveolar and soft tissue alterations produced by Orthodontic treatment. Mechanic sequence included sectional arches and were planned according to the Bioprogressive Therapy. The cephalometric assessment (Ricketts analysis and superimpositions) demonstrates all changes produced by treatment as well as those influenced by growth.

  9. Efflux pump gene expression in multidrug-resistant Mycobacterium tuberculosis clinical isolates.

    Science.gov (United States)

    Li, Guilian; Zhang, Jingrui; Guo, Qian; Jiang, Yi; Wei, Jianhao; Zhao, Li-li; Zhao, Xiuqin; Lu, Jianxin; Wan, Kanglin

    2015-01-01

    Isoniazid (INH) and rifampicin (RIF) are the two most effective drugs in tuberculosis therapy. Understanding the molecular mechanisms of resistance to these two drugs is essential to quickly diagnose multidrug-resistant (MDR) tuberculosis and extensive drug-resistant tuberculosis. Nine clinical Mycobacterium tuberculosis isolates resistant to only INH and RIF and 10 clinical pan-sensitive isolates were included to evaluate the expression of 20 putative drug efflux pump genes and sequence mutations in rpoB (RIF), katG (INH), the inhA promoter (INH), and oxyR-ahpC (INH). Nine and three MDR isolates were induced to overexpress efflux pump genes by INH and RIF, respectively. Eight and two efflux pump genes were induced to overexpress by INH and RIF in MDR isolates, respectively. drrA, drrB, efpA, jefA (Rv2459), mmr, Rv0849, Rv1634, and Rv1250 were overexpressed under INH or RIF stress. Most efflux pump genes were overexpressed under INH stress in a MDR isolates that carried the wild-type katG, inhA, and oxyR-ahpC associated with INH resistance than in those that carried mutations. The expression levels of 11 genes (efpA, Rv0849, Rv1250, P55 (Rv1410c), Rv1634, Rv2994, stp, Rv2459, pstB, drrA, and drrB) without drug inducement were significantly higher (P < 0.05) in nine MDR isolates than in 10 pan-sensitive isolates. In conclusion, efflux pumps may play an important role in INH acquired resistance in MDR M. tuberculosis, especially in those strains having no mutations in genes associated with INH resistance; basal expression levels of some efflux pump genes are higher in MDR isolates than in pan-sensitive isolates and the basal expressional differences may be helpful to diagnose and treat resistant tuberculosis.

  10. Efflux pump gene expression in multidrug-resistant Mycobacterium tuberculosis clinical isolates.

    Directory of Open Access Journals (Sweden)

    Guilian Li

    Full Text Available Isoniazid (INH and rifampicin (RIF are the two most effective drugs in tuberculosis therapy. Understanding the molecular mechanisms of resistance to these two drugs is essential to quickly diagnose multidrug-resistant (MDR tuberculosis and extensive drug-resistant tuberculosis. Nine clinical Mycobacterium tuberculosis isolates resistant to only INH and RIF and 10 clinical pan-sensitive isolates were included to evaluate the expression of 20 putative drug efflux pump genes and sequence mutations in rpoB (RIF, katG (INH, the inhA promoter (INH, and oxyR-ahpC (INH. Nine and three MDR isolates were induced to overexpress efflux pump genes by INH and RIF, respectively. Eight and two efflux pump genes were induced to overexpress by INH and RIF in MDR isolates, respectively. drrA, drrB, efpA, jefA (Rv2459, mmr, Rv0849, Rv1634, and Rv1250 were overexpressed under INH or RIF stress. Most efflux pump genes were overexpressed under INH stress in a MDR isolates that carried the wild-type katG, inhA, and oxyR-ahpC associated with INH resistance than in those that carried mutations. The expression levels of 11 genes (efpA, Rv0849, Rv1250, P55 (Rv1410c, Rv1634, Rv2994, stp, Rv2459, pstB, drrA, and drrB without drug inducement were significantly higher (P < 0.05 in nine MDR isolates than in 10 pan-sensitive isolates. In conclusion, efflux pumps may play an important role in INH acquired resistance in MDR M. tuberculosis, especially in those strains having no mutations in genes associated with INH resistance; basal expression levels of some efflux pump genes are higher in MDR isolates than in pan-sensitive isolates and the basal expressional differences may be helpful to diagnose and treat resistant tuberculosis.

  11. Bilateral Chondroepitrochlearis Muscle: Case Report, Phylogenetic Analysis, and Clinical Significance

    Directory of Open Access Journals (Sweden)

    Sujeewa P. W. Palagama

    2016-01-01

    Full Text Available Anomalous muscular variants of pectoralis major have been reported on several occasions in the medical literature. Among them, chondroepitrochlearis is one of the rarest. Therefore, this study aims to provide a comprehensive description of its anatomy and subsequent clinical significance, along with its phylogenetic importance in pectoral muscle evolution with regard to primate posture. The authors suggest a more appropriate name to better reflect its proximal attachment to the costochondral junction and distal attachment to the epicondyle of humerus, as “chondroepicondylaris”; in addition, we suggest a new theory of phylogenetic significance to explain the twisting of pectoralis major tendon in primates that may have occurred with their adoption to bipedalism and arboreal lifestyle. Finally, the clinical significance of this aberrant muscle is elaborated as a cause of potential neurovascular entrapment and as a possible hurdle during axillary surgeries (i.e., mastectomy.

  12. Clinical Management of Acute Interstitial Pneumonia: A Case Report

    Directory of Open Access Journals (Sweden)

    Yang Xia

    2012-01-01

    Full Text Available We describe a 51-year-old woman who was admitted to hospital because of cough and expectoration accompanied with general fatigue and progressive dyspnea. Chest HRCT scan showed areas of ground glass attenuation, consolidation, and traction bronchiectasis in bilateral bases of lungs. BAL fluid test and transbronchial lung biopsy failed to offer insightful evidence for diagnosis. She was clinically diagnosed with acute interstitial pneumonia (AIP. Treatment with mechanical ventilation and intravenous application of methylprednisolone (80 mg/day showed poor clinical response and thus was followed by steroid pulse therapy (500 mg/day, 3 days. However, she died of respiratory dysfunction eventually. Autopsy showed diffuse alveolar damage associated with hyaline membrane formation, pulmonary interstitial, immature collagen edema, and focal type II pneumocyte hyperplasia.

  13. Allergic contact dermatitis: immune system involvement and distinctive clinical cases.

    Science.gov (United States)

    Imbesi, S; Minciullo, P L; Isola, S; Gangemi, S

    2011-01-01

    The aim of this review is drawing the attention to the contact dermatitis, an inflammatory skin condition due to pro-inflammatory and toxic factors able to activate the skin innate immunity (irritant contact dermatitis) or caused by a T-cell- mediated hypersensitivity reaction (allergic contact dermatitis). The immune system involvement and a variety of clinical pictures are described in order to better diagnose, prevent and treat allergic contact dermatitis.

  14. Idiopathic Granulomatous Mastitis: A Clinical Puzzle in Breast Lump Cases.

    Science.gov (United States)

    Nath, Vivek G; Sahoo, Rakesh; Sahoo, Avinash; Barad, Jithendra Kumar; Arun, K A

    2017-06-01

    Idiopathic granulomatous mastitis (IGM) is a rare benign disease, characterized by chronic inflammation and granulomatous disease process. A middle aged lady with breast lump for six months with equivocal mammographic and ultrasound results underwent lumpectomy and biopsy. Ruling out all other possible granulomatous diseases and malignancy, a diagnosis of IGM was made. IGM becomes clinically significant as it closely mimics carcinoma breast and some inflammatory and infectious pathology.

  15. Idiopathic Granulomatous Mastitis: A Clinical Puzzle in Breast Lump Cases

    OpenAIRE

    Nath, Vivek G; sahoo, Rakesh; sahoo, Avinash; Barad, Jithendra kumar; Arun, K A

    2017-01-01

    Idiopathic granulomatous mastitis (IGM) is a rare benign disease, characterized by chronic inflammation and granulomatous disease process. A middle aged lady with breast lump for six months with equivocal mammographic and ultrasound results underwent lumpectomy and biopsy. Ruling out all other possible granulomatous diseases and malignancy, a diagnosis of IGM was made. IGM becomes clinically significant as it closely mimics carcinoma breast and some inflammatory and infectious pathology.

  16. Pertussis: clinical and bacteriological diagnosis of six cases

    Directory of Open Access Journals (Sweden)

    Arellano Penagos Mario

    2014-07-01

    Full Text Available ertussis is an endemic disease in our population. Every 3 to 4 years, pertussis has an epidemic pattern even in countries with good health conditions. Antipertussis vaccine first dose is adminis- tered at the age of 2 months; a second and third dose are given at 4 and 6 months of age. This vaccine has an 8 to 10 year protective effect, for which reason it is suggested that pregnant women in the third trimester should be vaccinated in order to prevent pertussis in newborns. It should also be administered to older people to avoid turning them into asymptomatic carriers. Clinic manifestations are easily identifiable due to respiratory symptoms, especially to the particular characteristics of the cough. The diagnosis is supported by the presence of leukocytosis (predominantly lymphocytes and by certain thoracic radiologic findings. The diagnosis is confirmed with a positive culture for Bordetella pertussis or with a polymerase chain reaction (PCR. In a non complicated clinic course macrolides are still the best therapeutic choice. Nonetheless clinic observation is highly recom- mended in order to avoid complications. Redefinition of vaccine programs against Bordetella pertussis in Mexican population is recommended and also to notify the presence of the disease to the corresponding health authorities.

  17. Ocular gene transfer in the spotlight: implications of newspaper content for clinical communications.

    Science.gov (United States)

    Benjaminy, Shelly; Bubela, Tania

    2014-07-16

    Ocular gene transfer clinical trials are raising hopes for blindness treatments and attracting media attention. News media provide an accessible health information source for patients and the public, but are often criticized for overemphasizing benefits and underplaying risks of novel biomedical interventions. Overly optimistic portrayals of unproven interventions may influence public and patient expectations; the latter may cause patients to downplay risks and over-emphasize benefits, with implications for informed consent for clinical trials. We analyze the news media communications landscape about ocular gene transfer and make recommendations for improving communications between clinicians and potential trial participants in light of media coverage. We analyzed leading newspaper articles about ocular gene transfer (1990-2012) from United States (n = 55), Canada (n = 26), and United Kingdom (n = 77) from Factiva and Canadian Newsstand databases using pre-defined coding categories. We evaluated the content of newspaper articles about ocular gene transfer for hereditary retinopathies, exploring representations of framing techniques, research design, risks/benefits, and translational timelines. The dominant frame in 61% of stories was a celebration of progress, followed by human-interest in 30% of stories. Missing from the positive frames were explanations of research design; articles conflated clinical research with treatment. Conflicts-of-interest and funding sources were similarly omitted. Attention was directed to the benefits of gene transfer, while risks were only reported in 43% of articles. A range of visual outcomes was described from slowing vision loss to cure, but the latter was the most frequently represented even though it is clinically infeasible. Despite the prominence of visual benefit portrayals, 87% of the articles failed to provide timelines for the commencement of clinical trials or for clinical implementation. Our analysis confirms

  18. Gene classification based on amino acid motifs and residues: the DLX (distal-less test case.

    Directory of Open Access Journals (Sweden)

    Nuno A Fonseca

    Full Text Available BACKGROUND: Comparative studies using hundreds of sequences can give a detailed picture of the evolution of a given gene family. Nevertheless, retrieving only the sequences of interest from public databases can be difficult, in particular, when working with highly divergent sequences. The difficulty increases substantially when one wants to include in the study sequences from many (or less well studied species whose genomes are non-annotated or incompletely annotated. METHODOLOGY/PRINCIPAL FINDINGS: In this work we evaluate the usefulness of different approaches of gene retrieval and classification, using the distal-less (DLX gene family as a test case. Furthermore, we evaluate whether the use of a large number of gene sequences from a wide range of animal species, the use of multiple alternative alignments, and the use of amino acids aligned with high confidence only, is enough to recover the accepted DLX evolutionary history. CONCLUSIONS/SIGNIFICANCE: The canonical DLX homeobox gene sequence here derived, together with the characteristic amino acid variants here identified in the DLX homeodomain region, can be used to retrieve and classify DLX genes in a simple and efficient way. A program is made available that allows the easy retrieval of synteny information that can be used to classify gene sequences. Maximum likelihood trees using hundreds of sequences can be used for gene identification. Nevertheless, for the DLX case, the proposed DLX evolutionary is not recovered even when multiple alignment algorithms are used.

  19. Epigenetic regulation of human DCLK-1 gene during colon-carcinogenesis: clinical and mechanistic implications

    Science.gov (United States)

    O’Connell, Malaney; Shubhashish, Sarkar

    2016-01-01

    Colorectal carcinogenesis is a multi-step process. While ~25% of colorectal cancers (CRCs) arise in patients with a family history (genetic predisposition), ~75% of CRCs are due to age-associated accumulation of epigenetic alterations which can result in the suppression of key tumor suppressor genes leading to mutations and activation of oncogenic pathways. Sporadic colon-carcinogenesis is facilitated by many molecular pathways of genomic instability which include chromosomal instability (CIN), micro-satellite instability (MSI) and CpG island methylator phenotype (CIMP), leading towards loss of homeostasis and onset of neoplastic transformation. The unopposed activation of Wnt/β-catenin pathways, either due to loss of APC function or up-regulation of related stimulatory pathways, results in unopposed hyperproliferation of colonic crypts, considered the single most important risk factor for colon carcinogenesis. Hypermethylation of CpG islands within the promoters of specific genes can potentially inactivate DNA repair genes and/or critical tumor suppressor genes. Recently, CpG methylation of the 5’ promoter of human (h) DCLK1 gene was reported in many human epithelial cancers, including colorectal cancers (CRCs), resulting in the loss of expression of the canonical long isoform of DCLK1 (DCLK1-L) in hCRCs. Instead, a shorter isoform of DCLK1 (DCLK1-S) was discovered to be expressed in hCRCs, from an alternate β promoter of DCLKL1-gene; the clinical and biological implications of these novel findings, in relation to recent publications is discussed. PMID:27777940

  20. Identification of virulence genes carried by bacteriophages obtained from clinically isolated methicillin-resistant Staphylococcus aureus.

    Science.gov (United States)

    Karasartova, Djursun; Cavusoglu, Zeynep Burcin; Turegun, Buse; Ozsan, Murat T; Şahin, Fikret

    2016-12-01

    Bacteriophages play an important role in the pathogenicity of Staphylococcus aureus (S. aureus) either by carrying accessory virulence factors or several superantigens. Despite their importance, there are not many studies showing the actual distribution of the virulence genes carried by the prophages obtained from the clinically isolated Staphylococcus. In this study, we investigated prophages obtained from methicillin-resistant S. aureus (MRSA) strains isolated from hospital- and community-associated (HA-CA) infections for the virulence factors. In the study, 43 phages isolated from 48 MRSA were investigated for carrying toxin genes including the sak, eta, lukF-PV, sea, selp, sek, seg, seq chp, and scn virulence genes using polymerase chain reaction (PCR) and Southern blot. Restriction fragment length polymorphism was used to analyze phage genomes to investigate the relationship between the phage profiles and the toxin genes' presence. MRSA strains isolated from HA infections tended to have higher prophage presence than the MRSA strains obtained from the CA infections (97% and 67%, respectively). The study showed that all the phages with the exception of one phage contained one or more virulence genes in their genomes with different combinations. The most common toxin genes found were sea (83%) followed by sek (77%) and seq (64%). The study indicates that prophages encode a significant proportion of MRSA virulence factors.

  1. SURGICAL TREATMENT OF PROGRESSIVE DYSPLASTIC COXARTROSIS IN CHILDREN (CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    Иван Иванович Кужеливский

    2017-03-01

    Full Text Available Dysplastic coxarthrosis is dominate among children orthopedic cases, and its surgical alignment continues to be peracute. Despite the application of advanced therapies and medical treatment, the patients of surgical state case constitute a significant percentage of the total patient number, i. e. from 19 to 35 %. In this article a detailed literature review of surgical alignment methods for deficiency acetabular roof by applying different implants has been described. The authors have proposed applying titanium nickelide materials in the surgical alignment method, as such materials possess the following properties: high corrosion stability, full compatibility with the body tissues, as well as, sufficient porosis providing radial border structure regeneration of acetabular roof, which in its turn, improves the support ability of extermity. In the event of progression of coxarthrosis iliac segment is reserved for the upcoming replacement.

  2. Clinical observation of laser treatment of cholelithiasis in 105 cases

    Science.gov (United States)

    Wang, Guang-hua; Gu, Xi-rong; Chen, Bin-jun; Xia, Guo-pin

    1993-03-01

    This paper reports the results of non-operative therapy for cholelithiasis in 105 cases using He-Ne laser lithotripsy and a high fat diet, as well as Chinese and Western medicine. There were 32 male and 73 female patients ages 11 - 67 years (with an average of 41.2 years). All cases were confirmed by either B mode sonography or cholangiography. This paper presents the technique of treatment, its indications, contraindications, and therapeutic results. The results reveal a cure rate of 20% (21/105), satisfactory in 72.4% (76/105), and failed in 7.6% (8/105). Successful passage of gallstones was found in 92.4% and 52 samples of gallstones were examined qualitatively. The results show that He-Ne laser irradiation in the treatment of cholelithiasis is associated with neither pain, side-effect, nor cross infection, and is readily accepted by the patients.

  3. Maxillary peripheral keratocystic odontogenic tumor. A clinical case report

    Science.gov (United States)

    Vázquez-Romero, María del Carmen; Serrera-Figallo, María de los Angeles; Alberdi-Navarro, Javier; Cabezas-Talavero, Javier; Romero-Ruiz, Manuel-María; Aguirre-Urizar, Jose-Manuel; Gutiérrez-Pérez, Jose-Luis

    2017-01-01

    The keratocystic odontogenic tumor is a benign odontogenic cystic neoplasia characterized by its thin, squamous epithelium with superficial parakeratosis. It has the potential for infiltration and local aggressiveness and has a high rate of recurrence. This neoplasia is predominantly found in males and people of white origin. The mandible is the most frequently involved site, in particular the third molar region, mandibular angle, and ramus. It has a mandible-maxilla ratio of 2:1. Only about twenty cases of peripheral keratocystic odontogenic tumors (PKCOT) have been reported in the international literature. This study presents a case of PKCOT localized in the anterior region of the maxilla, on the vestibular side of the upper left lateral incisor and the upper left canine. The diagnosis and treatment procedures, as based on the literature, are also discussed. Key words:Odontogenic cysts, odontogenic tumors, keratocyst, keratocystic odontogenic tumor. PMID:28149484

  4. Archetypal facets: analysis of clinical case supporting the Analytical Psychology

    Directory of Open Access Journals (Sweden)

    Odéssia Fernanda Gomes de Assis

    2016-01-01

    Full Text Available This paper is a case study of a patient who came to us complaining of difficulties within the family due to the fact that he could not deny anything to people. The case was analyzed based on the framework of Analytical Psychology, founded mainly on Carl Gustav Jung. Psychological counseling sessions were held, and after the sessions, theoretical approaches have been made based on the material presented by the patient. The interventions were performed with the goal of enabling the patient and insights she sought other ways to position themselves in the world and to relate to the people around. Over the course of the sessions, the patient was able to construct a context in which allow and deny more in accordance with their abilities and possibilities.

  5. Diverse proportion in composite pheochromocytoma-ganglioneuroma may induce varied clinical symptom: comparison of two cases.

    Science.gov (United States)

    Zhang, Bu-Yi; Zhao, Mingfei; Li, Baizhou; Zhang, Jian-Min

    2015-01-01

    Composite pheochromocytoma-ganglioneuroma is extremely rare. We described two cases of composite pheochromocytomas in the adrenal medullar. Case 1 was a 70-year-old male presenting with lower abdominal pain and normal blood electrolytes. Case 2 was a 48-year-old female with palpitation and back tenderness. Biochemical investigations showed hypocalcium, hypokalemia and high level of vma. The histological images and the immunohistochemical staining demonstrated the two cases composed of pheochromocytoma and ganglioneuromoma components. Ganglioneuroma component in case 2 accounted for more proportion than that in case 1. We speculated that the varied clinical symptoms were related with the diverse proportions in composite pheochromocytome-ganglioneuroma.

  6. HYDATID DISEASE INVOLVING CERVICAL SOFT TISSUES: CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    A. S. Aladin

    2013-01-01

    Full Text Available Neck cysts are rather commonly encountered in the practice of a surgeon, including an oncologist, who treats diseases of the head and neck. At the same time there are rare involvements of the organs and soft tissues of the neck. In particular, echinococcosis of neck soft tissues is an unusual site for hydatid cyst. Accounts of this involvement are found only as single communications in the literature. The presented case of hydatid cyst illustrates a variety of neck abnormalities.

  7. [Clinical and functional considerations in some cases of postoperative endophthalmitis].

    Science.gov (United States)

    Muşat, O; Toma, Oana; Cristescu, R; Coman, Corina; Asandi, R; Burcea, M

    2013-01-01

    We present 3 cases of postsurgery endophthalmitis, with good initial operatory technique, which were admitted in our hospital within variable time, to which a second surgery was performed, with good postoperative evolution, without any inflammatory signs and preserving the eye. We analyse the pre and post-operative treatment of endophthalmitis, but also the ways to prevent the appearance of this post-operative complication.

  8. Clinical and radiological features of nonfamilial cherubism: A case report

    OpenAIRE

    Wagel, Justyna; Łuczak, Klaudiusz; Hendrich, Barbara; Guziński, Maciej; Sąsiadek, Marek

    2012-01-01

    Summary Background: Cherubism is an uncommon hereditary benign fibro-osseous disorder characterized by bilateral enlargement of the mandible and the maxilla that presents with varying degrees of involvement and a tendency toward spontaneous remission. On radiography cherubic lesions appear as cystic multilocular radiolucencies limited to the jaw bones. Case Report: A 5-year-old boy was referred to the Department of Maxillo-Facial Surgery due to deformation of the lower and middle section of t...

  9. Case Report: The Clinical Toxicity of Dimethylamine Borane

    Science.gov (United States)

    Tsan, Yu-Tse; Peng, Kai-Yu; Hung, Dong-Zong; Hu, Wei-Hsiung; Yang, Dar-Yu

    2005-01-01

    Context: Dimethylamine borane (DMAB) is a reducing agent used in nonelectric plating of semiconductors. Exposures are usually through occupational contact. We report here four cases of people who suffered from work-related exposure to DMAB. Case presentation: Three patients exposed to DMAB decontaminated immediately by drinking a lot of water; they reported dizziness, nausea, diarrhea 6–8 hr later. The other patient did not decontaminate at once, and he suffered from more severe symptoms, including dizziness, nausea, limb numbness, slurred speech, irritable mood, and ataxia 13 hr later. Magnetic resonance imaging showed symmetric lesions with hyperintensity on T2WI and FLAIR in bilateral cerebellar dantate nuclei. This patient was readmitted to the hospital due to difficulty in walking and climbing 18 days after exposure. Lower leg weakness and drop foot were found bilaterally. A nerve conduction study revealed polyneuropathy with motor-predominant axonal degeneration. This patient receives regular outpatient followups and still walks with a clumsy gait and has difficulty with hand-grasping activity. Discussion: This case study demonstrates that DMAB is highly toxic to humans through any route of exposure, and dermal absorption is the major route of neurotoxicity. DMAB induces acute cortical and cerebellar injuries and delayed peripheral neuropathy. Relevance: Further investigation of the toxic mechanism of DMAB is warranted. Early decontamination with copious water is the best current treatment for exposure to DMAB. PMID:16330364

  10. Tics and Tourette syndrome: clinical evaluation of 44 cases

    Directory of Open Access Journals (Sweden)

    Teive Hélio A.G.

    2001-01-01

    Full Text Available We evaluated 44 patients with tics and Tourette's syndrome (TS emphasising the age of onset of symptoms, sex, classification and localization of tics, associated symptoms and signs and comorbidities. Thirty-three patients (75.2% had TS defined criteria whereas 10 (22.7% had chronic motor and/or vocal tics. Simple motor tics were found in 43 cases (97.7%, mainly affecting the eyes (43.2%, mouth (43.2%, face (34.1%. Simple vocal tics occurred in 33 (75%. Coprolalia was found in just 6 cases (13.6% and copropraxia in just 2 (4.5%. Obsessive compulsive disorder and/or symptoms were found in 26 cases (59.1% and attention deficit in 17 (38.6%. Eighteen patients (40.9% had other disorders, such as alcoholism, tabagism, drug abuse, affective disorders, anxiety, sleep and learning disorders. The data obtained are similar to those found by other authors. We highlight the low frequency of coprolalia, as well as the associated neuropsychiatric disorders.

  11. [A clinical study on 10 cases of cervical tuberculous lymphadenitis].

    Science.gov (United States)

    Mada, Yusuke; Ueki, Yuji; Konno, Akiyoshi

    2012-11-01

    Cervical tuberculous lymphadenitis is sometimes difficult to differentiate from sarcoidosis. We treated 10 patients with cervical tuberculous lymphadenitis from April 2002 to December 2011. Their ages ranged from 42 to 78 years old (mean 63.2 years), and the male-to-female ratio was 4: 6. All patients presented to our hospital with the chief complaint of a cervical mass. All patients underwent open biopsy of the cervical lymph nodes, and 8 patients were diagnosed histopathologically as having cervical tuberculous lymphadenitis. In the remaining 2 patients, caseous necrosis could not be recognized histopathologically and they were diagnosed as having sarcoidosis. However 8 weeks later, the culture of the acid-fast bacilli turned positive, and the diagnosis was corrected to cervical tuberculous lymphadenitis. In our