Background: Transsexual persons afford a very suitable model to study the effect of sex steroids on uric acid metabolism.
Design: This was a prospective study to evaluate the uric acid levels and ...fractional excretion of uric acid (FEUA) in a cohort of 69 healthy transsexual persons, 22 male-to-female transsexuals (MFTs) and 47 female-to-male transsexuals (FMTs). The subjects were studied at baseline and 1 and 2 yr after starting cross-sex hormone treatment.
Results: The baseline levels of uric acid were higher in the MFT group. Compared with baseline, uric acid levels had fallen significantly after 1 yr of hormone therapy in the MFT group and had risen significantly in the FMT group. The baseline FEUA was greater in the FMT group. After 2 yr of cross-sex hormone therapy, the FEUA had increased in MFTs (P = 0.001) and fallen in FMTs (P = 0.004). In MFTs, the levels of uric acid at 2 yr were lower in those who had received higher doses of estrogens (P = 0.03), and the FEUA was higher (P = 0.04). The FEUA at 2 yr was associated with both the estrogen dose (P = 0.02) and the serum levels of estradiol-17β (P =0.03). In MFTs, a correlation was found after 2 yr of therapy between the homeostasis model assessment of insulin resistance and the serum uric acid (r = 0.59; P = 0.01).
Conclusions: Serum levels of uric acid and the FEUA are altered in transsexuals as a result of cross-sex hormone therapy. The results concerning the MFT group support the hypothesis that the lower levels of uric acid in women are due to estrogen-induced increases in FEUA.
Context. Ultra-high energy (UHE) neutrinos and cosmic rays initiate particle cascades underneath the Moon's surface. These cascades have a negative charge excess and radiate Cherenkov radio emission ...in a process known as the Askaryan effect. The optimal frequency window for observation of these pulses with radio telescopes on the Earth is around 150 MHz. Aims. By observing the Moon with the Westerbork Synthesis Radio Telescope array we are able to set a new limit on the UHE neutrino flux. Methods. The PuMa II backend is used to monitor the Moon in 4 frequency bands between 113 and 175 MHz with a sampling frequency of 40 MHz. The narrowband radio interference is digitally filtered out and the dispersive effect of the Earth's ionosphere is compensated for. A trigger system is implemented to search for short pulses. By inserting simulated pulses in the raw data, the detection efficiency for pulses of various strength is calculated. Results. With 47.6 hours of observation time, we are able to set a limit on the UHE neutrino flux. This new limit is an order of magnitude lower than existing limits. In the near future, the digital radio array LOFAR will be used to achieve an even lower limit.
Identification of very long-chain acyl-CoA dehydrogenase deficiency is possible in the expanded newborn screening (NBS) due to the increase in tetradecenoylcarnitine (C14:1) and in the C14:1/C2, ...C14:1/C16, C14:1/C12:1 ratios detected in dried blood spots. Nevertheless, different confirmatory tests must be performed to confirm the final diagnosis. We have revised the NBS results and the results of the confirmatory tests (plasma acylcarnitine profiles, molecular findings, and lymphocytes VLCAD activity) for 36 cases detected in three Spanish NBS centers during 4 years, correlating these with the clinical outcome and treatment. Our aim was to distinguish unambiguously true cases from disease carriers in order to obtain useful diagnostic information for clinicians that can be applied in the follow-up of neonates identified by NBS.
Increases in C14:1 and of the different ratios, the presence of two pathogenic mutations, and deficient enzyme activity in lymphocytes (<12% of the intra-assay control) identified 12 true-positive cases. These cases were given nutritional therapy and all of them are asymptomatic, except one. Seventeen individuals were considered disease carriers based on the mild increase in plasma C14:1, in conjunction with the presence of only one mutation and/or intermediate residual activity (18–57%). In addition, seven cases were classified as false positives, with normal biochemical parameters and no mutations in the exonic region of ACADVL. All these carriers and the false positive cases remained asymptomatic. The combined evaluation of the acylcarnitine profiles, genetic results, and residual enzyme activities have proven useful to definitively classify individuals with suspected VLCAD deficiency into true-positive cases and carriers, and to decide which cases need treatment.
Particle cascades initiated by ultrahigh energy neutrinos in the lunar regolith will emit an electromagnetic pulse with a time duration of the order of nanoseconds through a process known as the ...Askaryan effect. It has been shown that in an observing window around 150 MHz there is a maximum chance for detecting this radiation with radio telescopes commonly used in astronomy. In 50 h of observation time with the Westerbork Synthesis Radio Telescope array we have set a new limit on the flux of neutrinos, summed over all flavors, with energies in excess of 4x10(22) eV.
To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations.
Twenty-two of 32 NBS programmes from 18 countries screened for at least one ...form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres.
NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second-tier marker total homocysteine (tHcy). The median decision limits of all centres were ≥ 2.35 for high and ≤ 0.44 MoM for low methionine, ≥ 1.95 for high and ≤ 0.47 MoM for low methionine/phenylalanine, ≥ 2.54 for high propionylcarnitine and ≥ 2.78 MoM for propionylcarnitine/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second-tier testing costs, we further adapted these decision limits using the data of 15,000 healthy newborns.
Due to the favourable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, e.g. birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second-tier markers.
To confirm the analytical performance of the Dimension Vista LOCI troponin I assay (cTnI).
Limit of blank (LoB), limit of detection (LoD), limit of quantitation (LoQ) with a 10% coefficient of ...variation (CV), linearity, precision, method comparison, and 99th percentile upper reference limits (URL) were analyzed. Endogenous analytes and rheumatoid factor (RF) were tested for assay interference.
The 99th percentile was 0.022
µg/L (CV
=
14%) and the LoQ was 0.036
µg/L. The ratio of 10% CV concentration to 99th percentile was 1.63. Linearity extended from 0 to 44.36
µg/L. The method comparison equation was Dimension® Vista™
=
0.94 (Dimension® RxL)
+
0.00
µg/L with bias at low levels. No interference was detected.
This study shows acceptable performance characteristics of the LOCI cTnI assay on Dimension® Vista™ to diagnosis and risk stratification of patients with acute coronary syndrome symptoms.
Diabète de type 1 : quel impact émotionnel ? Ghamgui, W.; Ounaissa, K.; Abadlia, S. ...
Annales d'endocrinologie,
October 2023, 2023-10-00, Volume:
84, Issue:
5
Journal Article
Peer reviewed
Le diabète de type 1 (DT1) est une maladie chronique ayant un impact psychologique, affectif, familial et social.
L’objectif de cette étude était d’estimer la détresse émotionnelle liée au diabète ...chez des patients DT1.
Étude transversale, menée auprès d’un groupe de patients DT1, suivis à l’Institut national de nutrition de Tunis. Tous les patients ont répondu au questionnaire Problem Area In Diabetes (PAID). Chaque question du score est notée de 0 à 4, avec 0=« pas de problème » et 4=« problème très sérieux ». Les scores de chaque item étaient additionnés et multipliés par 1,25 pour avoir un score total allant de 0 à 100. Un score≥40 témoigne d’un épuisement émotionnel. Un score≤10 associé à un mauvais contrôle glycémique pourrait indiquer un déni de la maladie.
Vingt-huit patients DT1, d’âge moyen 29,63±9,23 ans, ont été inclus. Quarante-six pour cent avaient un niveau d’instruction universitaire. L’ancienneté moyenne de diabète était de 16,32±6,06 ans, avec un une HbA1c moyenne de 9,73±1,50 %. La rétinopathie et la néphropathie diabétique ont été observées chez respectivement 25 % et 14 % des patients. Le score PAID moyen était de 25,89±15,07. Le score était≤10 et≥40 chez respectivement 10 % et 21 % des patients. Pas de relation significative entre ancienneté de diabète et score PAID et pour un score PAID≥40 et les complications du DT1.
Le DT1 a un impact émotionnel plus ou moins important. Un accompagnement continu s’avère nécessaire afin d’améliorer la capacité du patient DT1 à gérer sa maladie.
Female sexual dysfunction (FSD) is a frequent comorbidity in women with type 2 diabetes mellitus (T2DM), and is now increasingly considered a surrogate marker of endothelial dysfunction as well as a ...sentinel predictor of new-onset macroangiopathic events. Less attention, however, has been directed at the potential association of FSD and microangiopathy in hyperglycemic states.
We analyzed 30 consecutive female T2DM outpatients in whom FSD was assessed by the Female Sexual Function Index (FSFI) questionnaire.
A score of less than 26.55 characterizes FSD.
Participants underwent a comprehensive interview, a complete eye examination and fasting blood tests.
Socio-demographic and clinical characteristics were assessed during the consultation.
Mean age and diabetes duration were 42.97±6.6years and 12.7±6.21years, respectively.
Compared with patients without diabetic microangiopathy, those with any microangiopathy (odds ratio 12.6, P=0.007) had an elevated risk of having sexual dysfunction.
Women with diabetic nephropathy (odds ratio: 6, P=0.045) and diabetic neuropathy (odds ratio 4, P=0.03) had sixfold and fourfold increased odds of having sexual dysfunction, respectively, compared with those without diabetic nephropathy and neuropathy.
Diabetic retinopathy, irrespective of presence or severity, was not independently associated with FSD (P=0.141).
The presence and severity of diabetic nephropathy and neuropathy but not diabetic retinopathy is independently associated with self-reported female sexual dysfunction.
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