RESUMO
With its well-preserved archaeological and environmental records, Aghitu-3 Cave permits us to examine the settlement patterns of the Upper Paleolithic (UP) people who inhabited the Armenian Highlands. We also test whether settlement of the region between â¼39-24,000 cal BP relates to environmental variability. The earliest evidence occurs in archaeological horizon (AH) VII from â¼39-36,000 cal BP during a mild, moist climatic phase. AH VI shows periodic occupation as warm, humid conditions prevailed from â¼36-32,000 cal BP. As the climate becomes cooler and drier at â¼32-29,000 cal BP (AH V-IV), evidence for occupation is minimal. However, as cooling continues, the deposits of AH III demonstrate that people used the site more intensively from â¼29-24,000 cal BP, leaving behind numerous stone artifacts, faunal remains, and complex combustion features. Despite the climatic fluctuations seen across this 15,000-year sequence, lithic technology remains attuned to one pattern: unidirectional reduction of small cores geared towards the production of bladelets for tool manufacture. Subsistence patterns also remain stable, focused on medium-sized prey such as ovids and caprids, as well as equids. AH III demonstrates an expansion of social networks to the northwest and southwest, as the transport distance of obsidian used to make stone artifacts increases. We also observe the addition of bone tools, including an eyed needle, and shell beads brought from the east, suggesting that these people manufactured complex clothing and wore ornaments. Remains of micromammals, birds, charcoal, pollen, and tephra relate the story of environmental variability. We hypothesize that UP behavior was linked to shifts in demographic pressures and climatic changes. Thus, by combining archaeological and environmental data, we gain a clearer picture about the first UP inhabitants of the Armenian Highlands.
Assuntos
Arqueologia , Cavernas , Armênia , HumanosRESUMO
BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal disorder caused by alpha-galactosidase deficiency consecutive to a pathogenic variant in the GLA gene. Age at onset is highly variable, with a wide clinical spectrum including frequent renal, cardiac, skin and nervous system manifestations. Since pain can be an indicator of underlying FD, we wanted to estimate the prevalence of FD in a population of chronic pain patients. METHODS: Two studies, DOUFAB and DOUFABIS, were carried out in expert centers for chronic pain to assess the prevalence of FD by measuring alpha galactosidase A activity in men and analysing the GLA gene in women. RESULTS: Analysis of 893 patients, essentially adults, led to the diagnosis of FD in one female patient, now treated with enzyme replacement therapy. CONCLUSIONS: The prevalence of FD is estimated about 1/1000 in our population of men and women suffering from various chronic pain. This is nearly the prevalence of FD observed in other previously screened high-risk populations with renal failure. SIGNIFICANCE: Although a systematic search for FD does not seem relevant in the context of unexplained chronic pain in adults, a positive family history of FD or the presence of additional FD related organ features must lead to consider this rare disease diagnosis. Therefore, pain specialists need to be aware of main features of FD, including pain characteristics.
RESUMO
Several hyperthyroidism misdiagnoses cases have been recently described due to biotin intake. Biotin used in immuno-analysis assays which rely on biotin/streptavidin binding properties. In these assays, high plasmatic biotin levels can lead to major analytical interferences resulting in falsely higher (competition tests) or falsely reduced determinations (for sandwiches assays). We performed a simulation test of biotin intake with patient's samples. We studied the effect of biotin on cardiac troponin I and total vitamin D (D2+D3) assays that are using biotin-streptavidin binding on Dimension EXL®. Increasing doses of biotin were added (28 samples for each parameter) before the assays. The results evidenced a significant negative interference of biotin on cardiac troponin I determinations for concentrations of 100 ng/mL and above, with a total loss of signal for higher biotin additions. Such interference may lead to inappropriate therapeutic decisions. Positive interferences were observed on total vitamin D (D2+D3) with less impact for therapeutic decisions.
Assuntos
Ligação Competitiva , Biotina/metabolismo , Testes Diagnósticos de Rotina , Hipertireoidismo/diagnóstico , Estreptavidina/metabolismo , Troponina I/análise , Vitamina D/análise , Adulto , Artefatos , Biotina/administração & dosagem , Biotina/efeitos adversos , Colecalciferol/análise , Colecalciferol/sangue , Doença das Coronárias/sangue , Doença das Coronárias/diagnóstico , Erros de Diagnóstico , Testes Diagnósticos de Rotina/instrumentação , Testes Diagnósticos de Rotina/métodos , Testes Diagnósticos de Rotina/normas , Ergocalciferóis/análise , Ergocalciferóis/sangue , Humanos , Hipertireoidismo/sangue , Imunoensaio/instrumentação , Imunoensaio/métodos , Miocárdio/química , Miocárdio/metabolismo , Troponina I/sangue , Troponina I/metabolismo , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/diagnósticoRESUMO
Heart failure and restrictive respiratory insufficiency are complications in muscular dystrophies. We aimed to assess the accuracy of the B-natriuretic peptide (BNP) for the diagnosis of decompensated heart failure in muscular dystrophy. We included patients with muscular dystrophy and chronic respiratory insufficiency admitted in the Intensive Care Unit of the Raymond Poincare hospital (Garches, France) for suspected decompensated heart failure. Thirtyseven patients were included, among them, 23 Duchenne muscular dystrophy (DMD) (62%), 10 myotonic dystrophy type 1(DM1) (27%). Median age was 35 years [27.5; 48.5]. 86.5% of patients were on home mechanical ventilation (HMV). Median left ventricular ejection fraction (LVEF) was 47% [35.0; 59.5]. Median BNP blood level was 104 pg/mL [50; 399]. The BNP level was significantly inversely associated with LVEF (r= -0.37, p 0.03) and positively associated with the LVEDD (left ventricular end diastolic diameter) (r=0.59, P<0.001). The discriminative value of the BNP level for the diagnosis of decompensated heart failure was high with an AUROC=0.94 (P<0.001). The best discriminating BNP threshold was 307 pg/mL (Youden index 0.85). The BNP level measurement may add a supplemental key for the final diagnosis of decompensated heart failure.
RESUMO
BACKGROUND: Patients with Fabry disease (FD) show left ventricular hypertrophy (LVH) mimicking hypertrophic cardiomyopathy (HCM) of sarcomeric origin and might benefit, if detected early, from specific enzyme replacement therapy. The prevalence of FD in patients with LVH of 13 mm or greater, screened using the leucocyte alpha-galactosidase A (α-gal A) activity test, a technique that is difficult to apply routinely, ranged from 0% to 6%. OBJECTIVE: To screen systematically for FD in patients with a diagnosis of HCM (LVH ≥15 mm) in primary cardiology practice, a validated, physician-friendly α-gal A assay was used on dried blood spots using a filter paper test. DESIGN AND PATIENTS: A cohort of 392 adults (278 men) followed for HCM were screened for FD. A standard blood test was used for confirmation in nine men in whom the α-gal A result was 40% or less. RESULTS: Four men (1.5%; 1.8% of men ≥40 years vs 0% <40 years; all with α-gal A <30%), but no women, were diagnosed with FD. Index cases presented with diffuse but asymmetric LVH, with severe obstruction in one case and frequent high-grade atrioventricular conduction block necessitating a pacemaker in three cases. Family screening identified eight additional cases. Genotyping was performed successfully on DNA extracted from the filter papers. CONCLUSION: In male patients diagnosed as having HCM, pure FD cardiac variants are not exceptional and can be specifically identified using a simple filter-paper test. The sensitivity of this test is low in female patients.