Cardiac work up in patient 2.

<p>A+B: Coronary angiography (A: right coronary artery; B: left coronary artery) demonstrating no relevant pathology. C+D: Cardiac MRI showing increase in myocardial wall thickness (C) and pathological late gadolinium enhancement (D, arrow). E: Myocardial biopsy revealing strong accumulation of Gb_3, as indicated by numerous vacuoles within the cardiomyocytes (arrow).</p

cTNI-values in 3 patients with Fabry disease.

<p>cTNI-values in 3 patients with Fabry disease.</p

Synopsis of alpha-galactosidase gene mutations in 14 patients included in the study.

<p>Synopsis of alpha-galactosidase gene mutations in 14 patients included in the study.</p

Baseline data, medical history, biomarkers and cardiac work up in patients with FD in relation to cardiac troponin I elevation and normal values.

<p>*a small fibre dysfunction was proved by quantitative sensory testing or by skin biopsy.</p>†<p>measurement end-diastolic in the posterior wall of the left ventricle.</p>$<p>Arrhythmia was considered if one of the following conditions was detected: persistent or intermittent atrial fibrillation of flatter, sustained tachycardia (heart rate ≥100/minute for more than 30 seconds), non-sustained tachycardia (heart rate ≥100/minute for less than 30 seconds in at least 3 subsequent hear cycles), incomplete bundle branch block (QRS-duration: 100–119 ms) or complete bundle branch block (QRS-duration ≥120 ms).</p>§<p>lower level of quantification.</p

Multivariate analysis of the association between CRP levels and other parameters, and parasitemia, malaria and septicemia in 548 patient visits.

<p>Multivariate analysis of the association between CRP levels and other parameters, and parasitemia, malaria and septicemia in 548 patient visits.</p

Test quality of CRP levels for the prediction of parasitemia, malaria and septicemia.

<p>Test quality of CRP levels for the prediction of parasitemia, malaria and septicemia.</p

Univariate analysis of the association between CRP levels and parasitemia, malaria and septicemia in 548 patient visits.

<p>Univariate analysis of the association between CRP levels and parasitemia, malaria and septicemia in 548 patient visits.</p

Co-occurrence of two recessive diseases under consanguinity.

<p>Probabilities are calculated for a model of two recessive diseases, each being caused by a single fully penetrant locus with identical susceptibility allele frequency, q, and both loci being unlinked. <b>(A)</b> Log₁₀ value of the probability to observe two recessive diseases in a single family by chance as a function of consanguinity level <i>F</i>_<i>I</i> in the general population and the same risk allele frequency, q, at both unlinked loci. <b>(B)</b> Log₁₀ value of the increase in the co-occurrence probability due to consanguinity compared to the non-consanguineous case (<i>F</i>_<i>I</i> = 0). Probabilities and allele frequencies are depicted using their decadic logarithm (log₁₀). For example, when assuming values of <i>F</i>_<i>I</i> = 0.01 and q = 0.001 = 10⁻³, the two diseases will jointly occur in a single family with a probability of roughly 10⁻¹⁰, which equals approximately an 10² = 100-fold increase in probability in comparison to a non-consanguineous population.</p

Pedigree and mutation segregation.

<p>All patients exhibiting symptoms of HHR are homozygous for the mutation <i>SLC34A3</i> p.G196R (c.586G>A NM_080877.2), whereas all patients expressing symptoms of CM are homozygous for the mutation <i>SEPN1</i> p.G239R (c.715G>A NM_206926.1). Therefore, patients II-2 and II-7 present features of both diseases. Arrows indicate index patients. Abbreviations: HHR = Hereditary hypophosphatemic rickets; CM = congenital myopathy.</p

Bar chart plotting serotonin-1A binding potential (5-HT_1A BP_ND) according to BNDF Val66Met genotype status.

<p>Values at the y-axis represent 5-HT_1A BP_ND separated for val/val and met-carrier, respectively, x-axis shows regions of interest. Regions and values correspond to <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0106810#pone-0106810-t002" target="_blank">table 2</a>. ACC: anterior cingulate cortex, AMY: amygdala, MCC: medial cingulate cortex, HIPP: hippocampus, INS: insula, paraHIPP: parahippocampus, PCC: posterior cingulate cortex, TempPole: temporal pole, DRN: dorsal raphe nucleus.</p