tbuckley/cabot-search huggingface dataset:
A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance
Authors: Leslie J. Baier, Paskasari A. Permana, Xiaolin Yang, Richard E. Pratley, Robert L. Hanson, Gong-Qing Shen, David Mott, William C. Knowler, Nancy J. Cox, Yukio Horikawa, Naohisa Oda, Graeme I. Bell, Clifton Bogardus
Journal: Journal of Clinical Investigation (2000)

Previous linkage studies in Mexican-Americans localized a major susceptibility locus for type 2 diabetes, NIDDM1, to chromosome 2q. This evidence for linkage to type 2 diabetes was recently found to be associated with a common G-->A polymorphism (UCSNP-43) within the CAPN10 gene. The at-risk genotype was homozygous for the UCSNP-43 G allele. In the present study among Pima Indians, the UCSNP-43 G/G genotype was not associated with an increased prevalence of type 2 diabetes. However, Pima Indians with normal glucose tolerance, who have a G/G genotype at UCSNP-43, were found to have decreased rates of postabsorptive and insulin-stimulated glucose turnover that appear to result from decreased rates of glucose oxidation. In addition, G/G homozygotes were found to have reduced CAPN10 mRNA expression in their skeletal muscle. A decreased rate of insulin-mediated glucose turnover, or insulin resistance, is one mechanism by which the polymorphism in CAPN10 may increase susceptibility to type 2 diabetes mellitus in older persons.
Reduced Left Angular Gyrus Volume in First-Episode Schizophrenia
Authors: Jay Nierenberg, Dean F. Salisbury, James J. Levitt, Elizabeth A. David, Robert W. McCarley, Martha E. Shenton
Journal: American Journal of Psychiatry (2005)

OBJECTIVE: Research suggests that the normal left-greater-than-right angular gyrus volume asymmetry is reversed in chronic schizophrenia. The authors examined whether angular gyrus volume and asymmetry were abnormal in patients with first-episode schizophrenia. METHOD: Magnetic resonance imaging scans were obtained from 14 inpatients at their first hospitalization for psychosis and 14 normal comparison subjects. Manual editing was undertaken to delineate postcentral, supramarginal, and angular gyri gray matter volumes. RESULTS: Group comparisons revealed that the left angular gyrus gray matter volume in patients was 14.8% less than that of the normal subjects. None of the other regions measured showed significant group volume or asymmetry differences. CONCLUSIONS: Patients with new-onset schizophrenia showed smaller left angular gyrus volumes than normal subjects, consistent with other studies showing parietal lobe volume abnormalities in schizophrenia. Angular gyrus pathology in first-episode patients suggests that the angular gyrus may be a neuroanatomical substrate for the expression of schizophrenia.
Validation of Family History of Cancer in Deceased Family Members
Authors: B. Novakovic, A. M. Goldstein, M. A. Tucker
Journal: JNCI Journal of the National Cancer Institute (1996)

Studies of family history of cancer have contributed to knowledge about susceptibility to cancer and cancer genetics. The gold standard is to validate reported history of cancer by review of medical records and death certificates. Difficulties encountered in validating the history of cancer include the following: inaccuracy of diagnoses from death certificates when compared with medical records or autopsy data (75); coding inconsistencies, such as the report of nonspecific site of cancer on death certificates when compared with medical records (4); and inability to obtain records (5). Retrieval of medical records and accuracy of data obtained are higher if the history is given by firstdegree relatives (5,6). All patients diagnosed with tumors classified as Ewing's sarcomas and treated at the National Cancer Institute between 1965 and 1992 as well as their family members were enrolled in a genetic epidemiology study of Ewing's sarcoma. Approval of the institutional review board was obtained (7). The informant (i.e., living proband or next of kin), after providing written consent, was asked to report diagnoses of cancers in the proband's first- and second-degree relatives. We present results of validation of reported cancer diagnoses in a subset of 122 of 320 deceased family members. Confirmation of reported cancer diagnoses through medical documentation (death certificates and medical records) was attempted systematically for diagnoses of melanoma, cancers of the brain, stomach, and lung, and for all cancers for which the accuracy of diagnosis was questioned. The methods have been fully described (7). Requests for death certificates were sent to vital records departments of the 30 states where case subjects resided. The mean waiting period was 2.5 months
Correlation of MDR1 Gene Expression With Chemotherapy in Neuroblastoma
Authors: J. Bourhis, J. Benard, O. Hartmann, L. Boccon-Gibod, J. Lemerle, G. Riou
Journal: JNCI Journal of the National Cancer Institute (1989)

Forty-one neuroblastoma tumor specimens have been analyzed by Northern and slot blot hybridization techniques with human MDR1 gene probes. Only one of 15 (6%) tumors from patients who had not received chemotherapy exhibited high levels of MDR1 transcripts, while 11 of 26 (42%) treated tumors showed high levels of MDR1 expression (Fisher exact test: P = .03). The results indicate that the level of MDR1 mRNA expression is associated with previous chemotherapy, including drugs that select the multidrug resistance phenotype in vitro regardless of neuroblastoma tissue origin or N-myc content in the genome. For the 26 treated neuroblastomas, the number of nonresponsive tumors was found to be significantly higher among those with high levels of MDR1 mRNA.
Characterization of an Aquaporin-2 Water Channel Gene Mutation Causing Partial Nephrogenic Diabetes Insipidus in a Mexican Family
Authors: Cristina Boccalandro, Fabrizio de Mattia, Dong-Chuan Guo, Li Xue, Philip Orlander, Terri M. King, Prateek Gupta, Peter M.T. Deen, Victor R Lavis, Dianna M. Milewicz
Journal: Journal of the American Society of Nephrology (2004)

ABSTRACT. A Mexican family with partial congenital nephrogenic diabetes insipidus (NDI) that resulted from a mutation in the aquaporin-2 water channel (AQP2) was characterized, and the source of this rare mutation was traced to the family’s town of origin in Mexico. Affected individuals with profound polyuria and polydipsia were homozygous for an autosomal recessive missense V168M mutation in the AQP2 gene. Expression in oocytes revealed that, although retained in the endoplasmic reticulum (ER) to a great extent, a considerable amount of the partially functional AQP2-V168M was expressed at the plasma membrane, and that its ER retention was less than AQP2-T126M, a functional mutant in severe recessive NDI. None of the affected AQP2-V168M individuals had neurologic deficits, which also suggested a milder form of the disease. The homozygous individuals reported subjective improvement in polyuria and polydipsia with the use of dDAVP (1-desamino-8-D-arginine-vasopressin). When clinically tested, infusion of dDAVP at variable doses produced a partial increase in the urinary osmolality in homozygous individuals and decreased their water intake. Heterozygotes were unaffected when compared with controls. Samples were obtained from the population of the Mexican town of origin of the family; 30% of the population was heterozygous for the V168M AQP2 mutation and 1% was homozygous for the mutation. The high frequency of this rare mutation in the town provides evidence for an important health care problem in the village with consequences for future generations.
Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism
Authors: M Rynne
Journal: Annals of the Rheumatic Diseases (2006)

Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome, and neonatal onset multisystem inflammatory disease, also called chronic, infantile, neurological, cutaneous, and articular syndrome, are three hereditary autoinflammatory syndromes caused by mutations affecting the CIAS1/NALP3 gene on chromosome 1q44. The proinflammatory cytokine, interleukin 1beta, is believed to have a fundamental role in their pathogenesis.The case is described of a 59 year old white woman who presented with increasingly severe MWS-type features over a 15 year period. The response to interleukin 1beta inhibition with anakinra was dramatic, including a reduction in intracranial pressure with associated auditory improvement, as demonstrated by serial audiometry.The confirmed improvement in hearing after initiation of interleukin 1 receptor antagonism corroborates previous reports that specific blockade of this single cytokine reverses most of the symptoms of this group of CIAS1/NALP3 related autoinflammatory conditions, including the sensorineural deafness, which has not been previously reported.
Prognostic factors of postrecurrence survival in completely resected stage I non-small cell lung cancer with distant metastasis
Authors: J.-J. Hung, W.-J. Jeng, W.-H. Hsu, K.-J. Wu, T.-Y. Chou, C.-C. Hsieh, M.-H. Huang, J.-S. Liu, Y.-C. Wu
Journal: Thorax (2010)

<h3>Objective</h3> Distant metastasis after surgical resection is the most frequent cause of death in patients with non-small cell lung cancer (NSCLC). This study aimed to investigate the patterns of distant metastasis and the prognostic factors of postrecurrence survival in patients with resected stage I NSCLC with distant metastases. <h3>Methods</h3> The clinicopathological characteristics of 166 patients with distant metastases after complete resection of stage I NSCLC at Taipei Veterans General Hospital between 1980 and 2000 were retrospectively reviewed. The patients were divided into two groups according to patterns of distant metastasis (single or multiple organ metastases). Predictors of postrecurrence survival were analysed. <h3>Results</h3> The patterns of distant metastasis included single organ metastasis in 106 (63.9%) and multiple organ metastases in 60 (36.1%) patients. The 1- and 2-year postrecurrence survival rates for those with single organ metastasis were 30.2% and 15.1%, respectively. The most common site of single organ metastasis was bone (32.1%), followed by the brain (29.2%). Multivariate analysis revealed that disease-free interval &gt;16 months (HR 0.534; 95% CI 0.288 to 0.990; p=0.046) and treatment for distant metastasis (including re-operation, chemotherapy and/or radiotherapy) (HR 0.245; 95% CI 0.089 to 0.673; p=0.006) were significant predictors of better postrecurrence survival in resected stage I NSCLC with single organ metastasis. <h3>Conclusions</h3> A longer disease-free interval is a favourable prognostic predictor for postrecurrence survival in resected stage I NSCLC with single organ metastasis. Treatment for distant metastasis significantly prolongs postrecurrence survival.
The End of the One-Child Policy
Authors: Therese Hesketh, Xudong Zhou, Yun Wang
Journal: JAMA (2015)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Preconditioning Results in <i>S</i> -Nitrosylation of Proteins Involved in Regulation of Mitochondrial Energetics and Calcium Transport
Authors: Junhui Sun, Meghan Morgan, Rong-Fong Shen, Charles Steenbergen, Elizabeth Murphy
Journal: Circulation Research (2007)

Nitric oxide has been shown to be an important signaling messenger in ischemic preconditioning (IPC). Accordingly, we investigated whether protein S -nitrosylation occurs in IPC hearts and whether S -nitrosoglutathione (GSNO) elicits similar effects on S -nitrosylation and cardioprotection. Preceding 20 minutes of no-flow ischemia and reperfusion, hearts from C57BL/6J mice were perfused in the Langendorff mode and subjected to the following conditions: (1) control perfusion; (2) IPC; or (3) 0.1 mmol/L GSNO treatment. Compared with control, IPC and GSNO significantly improved postischemic recovery of left ventricular developed pressure and reduced infarct size. IPC and GSNO both significantly increased S -nitrosothiol contents and S -nitrosylation levels of the L-type Ca 2+ channel α1 subunit in heart membrane fractions. We identified several candidate S -nitrosylated proteins by proteomic analysis following the biotin switch method, including the cardiac sarcoplasmic reticulum Ca 2+ -ATPase, α-ketoglutarate dehydrogenase, and the mitochondrial F1-ATPase α1 subunit. The activities of these enzymes were altered in a concentration-dependent manner by GSNO treatment. We further developed a 2D DyLight fluorescence difference gel electrophoresis proteomic method that used DyLight fluors and a modified biotin switch method to identify S -nitrosylated proteins. IPC and GSNO produced a similar pattern of S -nitrosylation modification and cardiac protection against ischemia/reperfusion injury, suggesting that protein S -nitrosylation may play an important cardioprotective role in heart.
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis
Authors: Brian V. Balgobind, Pieter Van Vlierberghe, Ans M. W. van den Ouweland, H. Berna Beverloo, Joan N. R. Terlouw-Kromosoeto, Elisabeth R. van Wering, Dirk Reinhardt, Martin Horstmann, Gertjan J. L. Kaspers, Rob Pieters, C. Michel Zwaan, Marry M. Van den Heuvel-Eibrink, Jules P. P. Meijerink
Journal: Blood (2008)
Adrenomyeloneuropathy in patients with `Addison's disease': genetic case analysis
Authors: S. Mukherjee
Journal: Journal of the Royal Society of Medicine (2006)

To review the clinical presentations and diagnostic issues in adrenomyeloneuropathy and adrenoleukodystrophy, which are different presentations of the same single gene disorder.Observational study.Three generations of an affected kindred.None.Neurological features suggestive of adrenoleukodystrophy or adrenomyeloneuropathy. Measurement of very long chain fatty acids. Molecular analysis of the adrenoleukodystrophy gene.Three adults presented with adrenomyeloneuropathy and two children with adrenoleukodystrophy. Circulating concentrations of long chain fatty acids were raised consistent with clinical features. A mutation in exon 6 of the adrenoleukodystrophy gene (P543L) was identified. This had not previously been identified but has subsequently been reported by other groups.Adrenomyeloneuropathy should be considered in the differential diagnosis in male patients presenting with adrenal failure. Early diagnosis allows genetic counselling in such families and may become more important as treatment strategies evolve.
Optimal Oral Anticoagulant Therapy in Patients with Nonrheumatic Atrial Fibrillation and Recent Cerebral Ischemia
Authors: The European Atrial Fibrillation Trial Study Group
Journal: New England Journal of Medicine (1995)

A number of studies have demonstrated the efficacy of oral anticoagulant therapy in reducing the risk of stroke and systemic embolism in patients with nonrheumatic atrial fibrillation. However, both the targeted and the actual levels of anticoagulation differed widely among the studies, and a number of studies failed to report standardized prothrombin-time ratios as international normalized ratios (INRs). We therefore performed an analysis to determine the intensity of oral anticoagulant therapy in nonrheumatic atrial fibrillation that provides the best balance between the prevention of thromboembolism and the occurrence of bleeding complications.
Molecular Evolution Constraints in the Floral Organ Specification Gene Regulatory Network Module across 18 Angiosperm Genomes
Authors: Jose Davila-Velderrain, Andres Servin-Marquez, Elena R. Alvarez-Buylla
Journal: Molecular Biology and Evolution (2013)

The gene regulatory network of floral organ cell fate specification of Arabidopsis thaliana is a robust developmental regulatory module. Although such finding was proposed to explain the overall conservation of floral organ types and organization among angiosperms, it has not been confirmed that the network components are conserved at the molecular level among flowering plants. Using the genomic data that have accumulated, we address the conservation of the genes involved in this network and the forces that have shaped its evolution during the divergence of angiosperms. We recovered the network gene homologs for 18 species of flowering plants spanning nine families. We found that all the genes are highly conserved with no evidence of positive selection. We studied the sequence conservation features of the genes in the context of their known biological function and the strength of the purifying selection acting upon them in relation to their placement within the network. Our results suggest an association between protein length and sequence conservation, evolutionary rates, and functional category. On the other hand, we found no significant correlation between the strength of purifying selection and gene placement. Our results confirm that the studied robust developmental regulatory module has been subjected to strong functional constraints. However, unlike previous studies, our results do not support the notion that network topology plays a major role in constraining evolutionary rates. We speculate that the dynamical functional role of genes within the network and not just its connectivity could play an important role in constraining evolution.
Role of endothelin-1 in hyperpigmentation in seborrhoeic keratosis
Authors: E. TERAKI, S. TAJIMA, I. MANAKA, M. KAWASHIMA, M. MIYACLSHI, G. IMOKAWA
Journal: British Journal of Dermatology (1996)

Seborrhoeic keratosis (SK) is a benign epidermal tumour with a varying degree of pigmentation. We have recently demonstrated that endothelin-1 (ET-1) is a strong keratinocyte-derived mitogen and melanogen for human melanocytes in UVB-induced melanosis. To clarify the role of ET-1 in hyperpigmentation in SK, we have used immunohistochemistry and reverse transcription-polymerase chain reaction (RT-PCR) to see whether the production of ET-1 is accentuated in SK. Immunohistochemical analysis in SK (n = 7; acanthotic and deeply pigmented types) revealed marked immunostaining with anti-ET-1 in almost all basaloid and basal cells as compared with definite staining confined to basal cells in the perilesional normal controls. In parallel, RT-PCR of ET-1 mRNA demonstrated accentuated expression of ET-1 transcript in SK (n = 4) in comparison with that in the perilesional normal controls, accompanied by a similarly accentuated expression of tyrosinase mRNA. These findings suggest that ET-1 plays a part in the hyperpigmentation seen in SK.
Interleukin Generation in Experimental Colon Cancer of Rats: Effects of Tumor Growth and Tumor Therapy&lt;xref ref-type="fn" rid="FN1"&gt;2&lt;/xref&gt;
Authors: T Ravikumar, M Rodrick, G Steele, J Marrazo, P O'Dwyer, T Dodson, V King
Journal: JNCI Journal of the National Cancer Institute (1985)

The capacity of inbred W/Fu rats bearing syngeneic colon carcinomas to generate interleukin(s) (IL) was studied during primary tumor growth, after tumor resection, and during postresection immunotherapy. During local tumor growth, there was a significant decrease in the capacity of the host's adherent mononuclear cells to generate IL-1 and of peripheral blood mononuclear cells to generate IL-2 (16.6 and 23%, respectively, when compared to control animals; P<.01). The presence of regional metastases or large primary tumor burden resulted in a further sharp fall in IL generation (0.9 and 10% for IL-1 and IL-2, respectively, when compared to control animals; P<.01). With the use of three different doses of tumor inoculum, inhibition of IL generation was shown to occur when tumors were barely palpable. Decrease in IL correlated with tumor growth and not with the initial number of tumor cells injected. Tumor resection resulted in a rise in IL-2 generation from 36 to 64% of control animals' levels. Postresection immunotherapy with the use of an active specific immunization protocol successfully modulated IL-2 production to normal in animals protected from tumor recurrence. Animals that developed recurrent tumors despite immunization exhibited a continued inability to generate IL (mean values of IL-2 production compared to controls: 184% in animals free of recurrence after immunotherapy, 1% in animals developing recurrent tumors after immunotherapy; P<.01). These results suggested that alterations in IL generation may lead to immune unresponsiveness during tumor growth. Active specific immunotherapy protecting animals from recurrence after primary tumor resection may be predicated on the successful modulation of IL level generation by host immunocytes.
Does smoking interfere with the effect of histamine H2-receptor antagonists on intragastric acidity in man?
Authors: P Bauerfeind, T Cilluffo, C J Fimmel, C Emde, C von Ritter, W Kohler, R Gugler, T Gasser, A L Blum
Journal: Gut (1987)

The interaction between smoking and the effect of histamine H2-antagonists on intragastric acidity was examined in a double blind double dummy placebo controlled study. Healthy volunteers, 11 smokers and 10 non-smokers, were given, on four separate days at least one week apart, either placebo or cimetidine 800 mg nocte or ranitidine 2 X 150 mg per day or ranitidine 300 mg nocte. Tablets were taken at 2115 and 0900 h. Smokers smoked a cigarette hourly from 0700 to 2300 h. Breakfast, lunch, and dinner were standardised. Intragastric acidity was measured with a combined intragastric glass electrode and a solid state recorder. The subjects were fully ambulatory. The three histamine H2-receptor antagonist regimens were less effective (p = 0.04) in smokers than in non-smokers, but the difference between acidity of smokers and non-smokers was small. Means of medians of pH during a 24-h period with placebo, cimetidine 800 mg, ranitidine 2 X 150 mg and ranitidine 300 mg were 1.6, 2.3, 3.1, and 2.7 in smokers and 1.5, 2.7, 3.2, and 3.1 in non-smokers, respectively. In a second part of the study seven chronic smokers were reexamined after acutely stopping smoking: inhibition of gastric acidity by histamine H2-receptor antagonists was similar before and after withdrawal. Smoking does not affect intragastric acidity in untreated volunteers and only slightly decreases the effectiveness of histamine H2-receptor antagonists on intragastric acidity. This effect best in part explains the unfavourable effect of smoking on healing of peptic ulcer in patients treated with these drugs.