Trimethylaminuria

Author(s):  
Robin H. Lachmann ◽  
Nigel Manning

Trimethylaminuria (TMAU) or “Fish Odor Syndrome” is a disorder caused by increased concentrations of the volatile amine trimethylamine (TMA) in body fluids resulting in an unpleasant odor. The excess TMA may occur either due to deficient hepatic oxidation (primary) or increased bacterial generation (secondary). Testing urine for TMA concentration is the first line of investigation, preferably following a dietary load of a TMA precursor such as choline. Measurement of TMA and TMA-oxide are used as a guide to determine a primary or secondary cause, which can be confirmed by DNA analysis. FMO3 deficiency may have further clinical consequences due to the wide range of substrates oxidized by the enzyme including many drugs. Treatment of both primary and secondary TMAU relies on restriction of dietary precursors of TMA, antibiotic-based reduction of gut flora, and odor chelators. Riboflavin may also benefit some patients.

Work ◽  
2021 ◽  
pp. 1-9
Author(s):  
Linda Widar ◽  
Erika Wall ◽  
Sven Svensson

BACKGROUND: The complex position of a first line manager is characterized by heavy workload and contradictory demands. Little is known about how first line managers experience demand and control in their work. OBJECTIVES: The aim of this study was to explore experiences of demand and control among first line managers within psychiatric and addiction care. METHOD: In the present study, interviews with ten managers in for-profit psychiatric and addiction care in Sweden were analyzed with a phenomenographic approach. RESULTS: The managers experiences of demand and control implied varied and extensive responsibilities for a wide range of professions; regulation by organizational, economic, and political frameworks; creating balance in their work; and handling the emergence and consequences of acute crisis. These experiences of demand and control involved high and contradictory demands together with coexisting high and low levels of control. Many of their work characteristics could be described in terms of both demand and control. CONSLUSION: The first line managers experiences of demand and control are more complex than implied by the job demand control theory. Our results suggest that the organizational position and branch should be considered when identifying health hazards in the work environment of first line managers.


2021 ◽  
pp. 002580242110109
Author(s):  
Sweety Sharma ◽  
Rito Chophi ◽  
Jaskirandeep Kaur Jossan ◽  
Rajinder Singh

The most important task in a criminal investigation is to detect and identify the recovered biological stains beyond reasonable scientific doubt and preserve the sample for further DNA analysis. In the light of this fact, many presumptive and confirmatory tests are routinely employed in the forensic laboratories to determine the type of body fluid. However, the currently used techniques are specific to one type of body fluid and hence it cannot be utilized to differentiate multiple body fluids. Moreover, these tests consume the samples in due process, and thus it becomes a great limitation especially considering the fact that samples are recovered in minute quantity in forensic cases. Therefore, such limitations necessitate the use of non-destructive techniques that can be applied simultaneously to all types of bodily fluids and allow sample preservation for further analysis. In the current work, attenuated total reflectance-Fourier transform infrared (ATR-FTIR) spectroscopy has been used to circumvent the aforementioned limitations. The important factors which could influence the detection of blood such as the effect of substrates, washing/chemical treatment, ageing, and dilution limits on the analysis of blood have been analysed. In addition, blood discrimination from non-blood substance (biological and non-biological in nature) has also been studied. Chemometric technique that is PCA–LDA has been used to discriminate blood from other body fluids and it resulted in 100% accurate classification. Furthermore, blood and non-blood substances including fake blood have also been classified into separate clusters with a 100% accuracy, sensitivity, and specificity. All-inclusive, this preliminary study substantiates the potential application of ATR-FTIR spectroscopy for the non-destructive identification of blood traces in simulated forensic casework conditions with 0% rate of false classification.


2019 ◽  
Vol 31 (1) ◽  
pp. 16-22 ◽  
Author(s):  
Alison C. Cleary ◽  
Maria C. Casas ◽  
Edward G. Durbin ◽  
Jaime Gómez-Gutiérrez

AbstractThe keystone role of Antarctic krill,Euphausia superbaDana, in Southern Ocean ecosystems, means it is essential to understand the factors controlling their abundance and secondary production. One such factor that remains poorly known is the role of parasites. A recent study of krill diet using DNA analysis of gut contents provided a snapshot of the parasites present within 170E. superbaguts in a small area along the West Antarctic Peninsula. These parasites includedMetschnikowiaspp. fungi,Haptoglossasp. peronosporomycetes,LankesteriaandParalecudinaspp. apicomplexa,Stegophorussp. nematodes, andPseudocolliniaspp. ciliates. Of these parasites,Metschnikowiaspp. fungi andPseudocolliniaspp. ciliates had previously been observed inE. superba, as had other genera of apicomplexans, though notLankesteriaandParalecudina.In contrast, nematodes had previously only been observed in eggs ofE. superba, and there are no literature reports of peronosporomycetes in euphausiids.Pseudocolliniaspp., parasitoids which obligately kill their host, were the most frequently observed infection, with a prevalence of 12%. The wide range of observed parasites and the relatively high frequency of infections suggest parasites may play a more important role than previously acknowledged inE. superbaecology and population dynamics.


2018 ◽  
Vol 30 (1) ◽  
pp. 16-24 ◽  
Author(s):  
Ian Towle ◽  
Eleanor R. Dove ◽  
Joel D. Irish ◽  
Isabelle De Groote

Enamel defects can provide insight into the life histories of past individuals and populations, in-cluding information on a wide range of disturbances during childhood. This study investigates a particularly severe case of plane-form enamel hypoplasia from a Roman site in Gloucester, UK. Dentine protrudes above the occlusal enamel of upper central incisors, both upper canines, the lower left canine, lower right central incisor, and all four first molars. Given the morphology and location of these defects, along with the developmental tim-ing of the affected teeth, such factors as molar-incisor hypomineralization, amelogenesis imperfecta, and congen-ital syphilis can likely be ruled out. The defects resulted from a nonspecific but severe physiological disturbance during the second year of life. Severe plane-form defects of this kind, where enamel formation has completely ceased, are extremely rare in premodern populations, and this example is one of the earliest reported cases. It has been suggested that these defects generally occur only in individuals that survived a life-threatening illness, which would explain the scarcity in the archaeological record, i.e., the afflicted individual would not have lived long enough for the defects to manifest. Comparisons with clinical examples and pathogen DNA analysis may provide further insight into the etiology of these defects.


Medicines ◽  
2019 ◽  
Vol 6 (3) ◽  
pp. 73 ◽  
Author(s):  
Raveena Khanna ◽  
Emily Boozalis ◽  
Micah Belzberg ◽  
John G. Zampella ◽  
Shawn G. Kwatra

Background: Chronic pruritus is a debilitating condition associated with a wide range of dermatologic, systemic and psychogenic etiologies. In patients with chronic pruritus that is refractory to conventional therapy, symptoms can significantly decrease quality of life by contributing to anxiety, sleep disturbances, and in many cases depression. Recent studies have demonstrated the effectiveness of mirtazapine in relieving chronic itch that is refractory to standard first-line therapies. Methods: We searched PubMed for English-language articles containing the words (“pruritus” or “itch”) AND “antidepressant” and then conducted a systematic review of the current literature to summarize the efficacy of mirtazapine in treating chronic itch. Results: All studies reported a reduction in itch intensity following the administration of mirtazapine. Conclusion: Collectively, these studies suggest the potential for mirtazapine to relieve chronic itch attributed to dermatological causes and malignancies. As, such mirtazapine may be an option for patients with chronic pruritus that is refractory to typical first-line treatments.


2020 ◽  
Vol 16 (4) ◽  
pp. 654-662
Author(s):  
O. D. Ostroumova ◽  
I. A. Alautdinova ◽  
A. I. Kochetkov ◽  
S. N. Litvinova

Cardiovascular diseases are the leading cause of death both in the world and in the Russian Federation. The most significant contributors to the increase in mortality are arterial hypertension (AH) and ischemic heart disease (IHD). Dihydropyridine calcium channel blockers (CCBs) are the first line of treatment for these conditions. This is noted in the clinical guidelines for the diagnosis and treatment of AH and in the guidelines for the management of patients with chronic coronary syndromes. CCBs are a heterogeneous group of drugs that have both general and individual pharmacokinetic and pharmacodynamic properties. They are used in patients with AH and/or IHD, including those with concomitant diseases (diabetes mellitus, chronic kidney disease, bronchial asthma, chronic obstructive pulmonary disease, peripheral arterial disease). Felodipine is one of the CCBs. It has a combination of clinical effects, allowing the drug to be prescribed as a first-line therapy for AH, IHD and a combination of these diseases. This is noted in the registered indications for its use. This CCB has a sufficient evidence base of clinical trials demonstrating not only good antihypertensive and antianginal potential of the drug, but also the nephroprotection and cerebroprotection properties. The nephroprotective effect of felodipine is associated with a slowdown in the progression of chronic kidney disease, and the cerebroprotective effect is associated with a decrease in the risk of stroke and an improvement in cognitive functioning. The safety profile of felodipine is favorable: peripheral edema develops much less frequently. This is confirmed by the results of comparative studies. Felodipine is recommended for a wide range of patients with AH, IHD and their combination due to such clinical and pharmacological properties.


2019 ◽  
Vol 80 (11) ◽  
pp. 658-664
Author(s):  
Vikrant Devgire ◽  
Michael Hughes

Raynaud's phenomenon is a common vasospastic condition which carries a significant burden of pain and hand-related disability ( Hughes and Herrick, 2016 ). The prevalence of Raynaud's phenomenon in the general population has been reported to be approximately 5% ( Garner et al, 2015 ). Raynaud's phenomenon can occur either as a primary (‘idiopathic’) phenomenon or secondary to a wide range of underlying medical conditions and drug causes. Therefore, hospital-based specialists are frequently involved in the care of patients with Raynaud's phenomenon and need to be aware of associated conditions and prescribed medications for Raynaud's phenomenon. In particular, Raynaud's phenomenon is often the earliest manifestation of an underlying autoimmune connective tissue disease (e.g. systemic sclerosis). A comprehensive clinical assessment is required including performing targeted investigations (e.g. nailfold capillaroscopy and systemic sclerosis-associated autoantibodies). Patient education and lifestyle adaptations is first-line treatment for Raynaud's phenomenon. There is a wide range of pharmacological options including oral and intravenous drug therapies available to treat Raynaud's phenomenon. Surgical intervention is sometimes required for refractory Raynaud's phenomenon and tissue ischaemia. This review describes the clinical manifestations of Raynaud's phenomenon including potential secondary causes and presents an approach to assessment and management.


Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4932-4932
Author(s):  
Lewis R. Silverman ◽  
Shyamala C. Navada ◽  
Rosalie Odchimar-Reissig ◽  
Maria Michalak ◽  
Erin P Demakos ◽  
...  

Abstract Abstract 4932 Background: The hypomethylating agent azacitidine (azaC) which can reverse epigenetic silencing, is the first agent demonstrated to alter the natural history of MDS and improve survival in higher-risk patients (Silverman JCO 2002, Fenaux Lancet Oncology 2009). AzaC also produces comparable rates of response in patients with non-proliferative AML and appears to affect survival (Silverman JCO 2006). The response rate to single agent azaC is about 50% with median duration of response about 14 to 22 months. Patients who are refractory to or relapse following first line therapy with azaC have a median survival of 4 to 6 months (Jabbour 2010, Prebet 2011). Options for these patients failing first-line therapy with azaC are limited and there is no standard of care. Investigational therapies are being explored but not always widely available for these patients. Prior studies with azaC explored higher doses but were inconclusive to a dose response effect secondary to the slow time to response with a median of 2 to 3 cycles. In vitro, azaC has a wide range of concentrations that can induce differentiation up to 4 μm. In patients the standard clinical dose achieves a plasma level of 1. 25 μm thus suggesting that higher doses might have a clinical benefit (Marcucci 2005). Methods: Patients who were refractory to or relapsing following treatment with an azaC based regimen for MDS where alternative investigational options were not available and who were not rapidly progressing (i. e rapidly rising WBC or myeloblast %), were treated with higher doses of single agent azaC. The dose was increased by 33% from the baseline prior failing regimen (eg 55 to 75 or 75 to 100 mg/m2). The azaC was administered SC × 7 days q 28 days; response status was assessed after 2 cycles. Patients stable or responding were continued on 28 day cycles. Myeloid cytokine support was utilized for patients with ANC < 200 and ESA support for patients who were RBC dependent. Results: As of the data cut for this submission 13 patients are evaluable for toxicity and response. Among the 13 patients the median age was 68 and 11 were male. All had been treated with azaC based regimens before and 10 had responded: 4 CR; 1 PR; 5 HI; 2 NR; 1 unknown. The immediate therapy prior to increased dosing included: azaC + histone deacetylase inhibitor (HDACi) (6); single agent azaC (5); investigational treatment (2). 6 had MDS (int-1 (2); int-2 (3); high (1) and 7 AML (all transformed following MDS all smoldering). Responses among evaluable patients have occurred in 11 of 13 (85%); 1 PR, 7 HI (4 CRm), 1 CRm, (CR+CRi=53%) 2 PRm, 1 SD, 1 NR. Although responses occurred, the abnormal MDS/AML clone persisted, suggesting that the higher dose did not have a cytotoxic effect on the malignant clone. A total of 117 cycles have been administered, range 2 to 17 with a mean 8 cycles. Median time to treatment failure was 11. 6 months and median survival is 17. 5 months. Eight patients have come off treatment for progression (5); relapse (2); co-morbidities (1). No grade 3 or 4 non-hematologic toxicities were observed. Hematologic toxicity was similar to that seen with standard dose azaC. Conclusion: Modification of the dose of azaC in select patients, who lack alternative options including investigational agents or stem cell transplant, may improve blood counts and reduce the bone marrow blasts. The quality of the response to the increased dose after primary failure does not attain the level of the original response in most, however, this approach may increase therapeutic options in a poor risk population. Investigations into the potential mechanisms of action are being explored. Disclosures: Silverman: celgene: Speakers Bureau. Demakos:celgene: Speakers Bureau.


From direct observation and from cinematographic records five different types of cirral activity have been recognized in sessile barnacles. They are, arranged in increasing degree of muscular and cirral movement: (1) testing, in which the valves hardly open and the cirri are not protruded; (2) pumping, in which strong rhythmic movements of the operculum occur, but the cirri are protruded only slightly, and not extended; (3) normal beat, a development of pumping, but with the cirri fully extended and withdrawn in rhythm with the opercular movements; (4) fast beat, with less opercular movement, but strong and fast rhythmic cirral movements; (5) extension, in which the cirri are held outside the shell for varying periods without rhythmic movements. Stalked barnacles show simpler cirral activity, without regular rhythmic movements. The internal current which passes through the mantle cavity during normal beat and pumping in sessile species is considered to be primarily respiratory. The flow is shown to be sufficient for this purpose, and the energy expended in driving it through is calculated to be comparatively small. Further respiratory exchange of importance in fast beat and extension takes place via the larger cirri, which are distended and emptied of body fluids during cirral activity. In laboratory experiments under various conditions the balanoids alone showed the full range of movements. The Chthamalidae showed less rhythmic activity and no fast beat, while the stalked barnacles relied mainly on extension. These differences limit the habitats available to the latter groups, as compared with the Balanidae. Micro-feeding, with the smaller cirri used as a filter, can take place during pumping and normal beat, but is less efficient, to judge from rates of filtration, than captorial feeding on larger particles, when the larger cirri are employed. Fast beat is particularly well adapted to captorial feeding in still water, extension to captorial feeding in moving water. A wide range of food particles was found to be ingested, of sizes varying from a few microns to several millimetres; proteinaceous materials, such as planktonic animals and chopped lamellibranch muscle were most readily utilized, phytoplankton less so, while pure fats and starches passed unchanged through the gut. The interrelationship of cirral movements, feeding, and respiratory exchange is traced through the possible course of evolution of cirripedes, to the culmination in the most highly developed group, the Balanidae.


2009 ◽  
Vol 27 (5) ◽  
pp. E7 ◽  
Author(s):  
Maryam Rahman ◽  
Gregory J. Velat ◽  
Brian L. Hoh ◽  
J Mocco

Cerebral venous sinus thrombosis (CVST) is an increasingly diagnosed disease with a wide range of symptoms, ranging from a mild headache to cerebral herniation. A potentially devastating syndrome, CVST has been associated with a mortality rate of 6–10%. In prospective studies, the overall rate of death and dependency from CVST ranges from 8.8 to 44.4%. Systemic anticoagulation remains the first-line treatment. However, a percentage of patients deteriorate despite medical therapy. These cases have resulted in the development of thrombolysis or endovascular treatment for CVST. Initial reports of the use of endovascular treatment of CVST have been promising. However, enthusiasm for the use of endovascular thrombolysis and thrombectomy should be tempered by an understanding of possible risks such as intracerebral hemorrhage and/or vessel dissection. The authors review the literature regarding endovascular treatment of CVST with a description of the chemical and mechanical thrombolytic techniques.


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