Graves' disease presenting as pseudotumor cerebri: a case report

<p>Abstract</p> <p>Introduction</p> <p>Pseudotumor cerebri is an entity characterized by elevated intracranial pressure with normal cerebrospinal fluid and no structural abnormalities detected on brain MRI scans. Common secondary causes include endocrine pathologies. Hyperthyroidism is very rarely associated and only three case reports have been published so far.</p> <p>Case presentation</p> <p>We report the case of a 31-year-old Luso-African woman with clinical symptoms and laboratory confirmation of Graves' disease that presented as pseudotumor cerebri.</p> <p>Conclusion</p> <p>This is a rare form of presentation of Graves' disease and a rare cause of pseudotumor cerebri. It should be remembered that hyperthyroidism is a potential cause of pseudotumor cerebri.</p

NMDA receptor gene variations as modifiers in Huntington disease: a replication study.

Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the entire cohort. Yet, when subjects were stratified by AO subtypes, we found nominally significant evidence for an association of the GRIN2A rs1969060 variation and the GRIN2B rs1806201 variation. These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD

Single-atom imaging of fermions in a quantum-gas microscope

Single-atom-resolved detection in optical lattices using quantum-gas microscopes has enabled a new generation of experiments in the field of quantum simulation. Fluorescence imaging of individual atoms has so far been achieved for bosonic species with optical molasses cooling, whereas detection of fermionic alkaline atoms in optical lattices by this method has proven more challenging. Here we demonstrate single-site- and single-atom-resolved fluorescence imaging of fermionic potassium-40 atoms in a quantum-gas microscope setup using electromagnetically-induced-transparency cooling. We detected on average 1000 fluorescence photons from a single atom within 1.5s, while keeping it close to the vibrational ground state of the optical lattice. Our results will enable the study of strongly correlated fermionic quantum systems in optical lattices with resolution at the single-atom level, and give access to observables such as the local entropy distribution and individual defects in fermionic Mott insulators or anti-ferromagnetically ordered phases.Comment: 7 pages, 5 figures; Nature Physics, published online 13 July 201

The Hong-Ou-Mandel effect with atoms

Controlling light at the level of individual photons has led to advances in fields ranging from quantum information and precision sensing to fundamental tests of quantum mechanics. A central development that followed the advent of single photon sources was the observation of the Hong-Ou- Mandel (HOM) effect, a novel two-photon path interference phenomenon experienced by indistinguishable photons. The effect is now a central technique in the field of quantum optics, harnessed for a variety of applications such as diagnosing single photon sources and creating probabilistic entanglement in linear quantum computing. Recently, several distinct experiments using atomic sources have realized the requisite control to observe and exploit Hong-Ou-Mandel interference of atoms. This article provides a summary of this phenomenon and discusses some of its implications for atomic systems. Transitioning from the domain of photons to atoms opens new perspectives on fundamental concepts, such as the classification of entanglement of identical particles. It aids in the design of novel probes of quantities such as entanglement entropy by combining well established tools of AMO physics - unity single-atom detection, tunable interactions, and scalability - with the Hong-Ou-Mandel interference. Furthermore, it is now possible for established protocols in the photon community, such as measurement-induced entanglement, to be employed in atomic experiments that possess deterministic single-particle production and detection. Hence, the realization of the HOM effect with atoms represents a productive union of central ideas in quantum control of atoms and photons.Comment: 19 pages, 7 figure

Health service utilization in IBD: comparison of self-report and administrative data

<p>Abstract</p> <p>Background</p> <p>The reliability of self-report regarding health care utilization in inflammatory bowel disease (IBD) is unknown. If proven reliable, it could help justify self-report as a means of determining health care utilization and associated costs.</p> <p>Methods</p> <p>The Manitoba IBD Cohort Study is a population-based longitudinal study of participants diagnosed within 7 years of enrollment. Health care utilization was assessed through standardized interview. Participants (n = 352) reported the total number of nights hospitalized, frequency of physician contacts in the prior 12 months and whether the medical contacts were for IBD-related reasons or not. Reports of recent antibiotic use were also recorded. Actual utilization was drawn from the administrative database of Manitoba Health, the single comprehensive provincial health insurer.</p> <p>Results</p> <p>According to the administrative data, 15% of respondents had an overnight hospitalization, while 10% had an IBD-related hospitalization. Self-report concordance was highly sensitive (92%; 82%) and specific (96%; 97%, respectively). 97% of participants had contact with a physician in the previous year, and 69% had IBD-related visits. Physician visits were significantly under-reported and there was a trend to over-report the number of nights in hospital.</p> <p>Conclusions</p> <p>Self-report data can be helpful in evaluating health service utilization, provided that the researcher is aware of the systematic sources of bias. Outpatient visits are well identified by self-report. The discordance for the type of outpatient visit may be either a weakness of self-report or a flaw in diagnosis coding of the administrative data. If administrative data are not available, self-report information may be a cost-effective alternative, particularly for hospitalizations.</p

Huntingtin gene repeat size variations affect risk of lifetime depression

Huntington disease (HD) is a severe neuropsychiatric disorder caused by a cytosine-adenine-guanine (CAG) repeat expansion in the HTT gene. Although HD is frequently complicated by depression, it is still unknown to what extent common HTT CAG repeat size variations in the normal range could affect depression risk in the general population. Using binary logistic regression, we assessed the association between HTT CAG repeat size and depression risk in two well-characterized Dutch cohorts─the Netherlands Study of Depression and Anxiety and the Netherlands Study of Depression in Older Persons─including 2165 depressed and 1058 non-depressed persons. In both cohorts, separately as well as combined, there was a significant non-linear association between the risk of lifetime depression and HTT CAG repeat size in which both relatively short and relatively large alleles were associated with an increased risk of depression (β = −0.292 and β = 0.006 for the linear and the quadratic term, respectively; both P < 0.01 after adjustment for the effects of sex, age, and education level). The odds of lifetime depression were lowest in persons with a HTT CAG repeat size of 21 (odds ratio: 0.71, 95% confidence interval: 0.52 to 0.98) compared to the average odds in the total cohort. In conclusion, lifetime depression risk was higher with both relatively short and relatively large HTT CAG repeat sizes in the normal range. Our study provides important proof-of-principle that repeat polymorphisms can act as hitherto unappreciated but complex genetic modifiers of depression

ICD-10 coding algorithms for defining comorbidities of acute myocardial infarction

BACKGROUND: With the introduction of ICD-10 throughout Canada, it is important to ensure that Acute Myocardial Infarction (AMI) comorbidities employed in risk adjustment methods remain valid and robust. Therefore, we developed ICD-10 coding algorithms for nine AMI comorbidities, examined the validity of the ICD-10 and ICD-9 coding algorithms in detection of these comorbidities, and assessed their performance in predicting mortality. The nine comorbidities that we examined were shock, diabetes with complications, congestive heart failure, cancer, cerebrovascular disease, pulmonary edema, acute renal failure, chronic renal failure, and cardiac dysrhythmias. METHODS: Coders generated a comprehensive list of ICD-10 codes corresponding to each AMI comorbidity. Physicians independently reviewed and determined the clinical relevance of each item on the list. To ensure that the newly developed ICD-10 coding algorithms were valid in recording comorbidities, medical charts were reviewed. After assessing ICD-10 algorithms' validity, both ICD-10 and ICD-9 algorithms were applied to a Canadian provincial hospital discharge database to predict in-hospital, 30-day, and 1-year mortality. RESULTS: Compared to chart review data as a 'criterion standard', ICD-9 and ICD-10 data had similar sensitivities (ranging from 7.1 – 100%), and specificities (above 93.6%) for each of the nine AMI comorbidities studied. The frequencies for the comorbidities were similar between ICD-9 and ICD-10 coding algorithms for 49,861 AMI patients in a Canadian province during 1994 – 2004. The C-statistics for predicting 30-day and 1 year mortality were the same for ICD-9 (0.82) and for ICD-10 data (0.81). CONCLUSION: The ICD-10 coding algorithms developed in this study to define AMI comorbidities performed similarly as past ICD-9 coding algorithms in detecting conditions and risk-adjustment in our sample. However, the ICD-10 coding algorithms should be further validated in external databases

P67-phox (NCF2) Lacking Exons 11 and 12 Is Functionally Active and Leads to an Extremely Late Diagnosis of Chronic Granulomatous Disease (CGD)

Two brothers in their fifties presented with a medical history of suspected fungal allergy, allergic bronchopulmonary aspergillosis, alveolitis, and invasive aspergillosis and pulmonary fistula, respectively. Eventually, after a delay of 50 years, chronic granulomatous disease (CGD) was diagnosed in the index patient. We found a new splice mutation in the NCF2 (p67-phox) gene, c.1000+2T→G, that led to several splice products one of which lacked exons 11 and 12. This deletion was in frame and allowed for remarkable residual NADPH oxidase activity as determined by transduction experiments using a retroviral vector. We conclude that p67-phox which lacks the 34 amino acids encoded by the two exons can still exert considerable functional activity. This activity can partially explain the long-term survival of the patients without adequate diagnosis and treatment, but could not prevent progressing lung damage

Transcriptomics and adaptive genomics of the asymptomatic bacteriuria Escherichia coli strain 83972

Escherichia coli strains are the major cause of urinary tract infections in humans. Such strains can be divided into virulent, UPEC strains causing symptomatic infections, and asymptomatic, commensal-like strains causing asymptomatic bacteriuria, ABU. The best-characterized ABU strain is strain 83972. Global gene expression profiling of strain 83972 has been carried out under seven different sets of environmental conditions ranging from laboratory minimal medium to human bladders. The data reveal highly specific gene expression responses to different conditions. A number of potential fitness factors for the human urinary tract could be identified. Also, presence/absence data of the gene expression was used as an adaptive genomics tool to model the gene pool of 83972 using primarily UPEC strain CFT073 as a scaffold. In our analysis, 96% of the transcripts filtered present in strain 83972 can be found in CFT073, and genes on six of the seven pathogenicity islands were expressed in 83972. Despite the very different patient symptom profiles, the two strains seem to be very similar. Genes expressed in CFT073 but not in 83972 were identified and can be considered as virulence factor candidates. Strain 83972 is a deconstructed pathogen rather than a commensal strain that has acquired fitness properties