Disentangling functional trait variation and covariation in epiphytic lichens along a continent-wide latitudinal gradient.

Characterizing functional trait variation and covariation, and its drivers, is critical to understand the response of species to changing environmental conditions. Evolutionary and environmental factors determine how traits vary among and within species at multiple scales. However, disentangling their relative contribution is challenging and a comprehensive trait-environment framework addressing such questions is missing in lichens. We investigated the variation in nine traits related to photosynthetic performance, water use and nutrient acquisition applying phylogenetic comparative analyses in lichen epiphytic communities on beech across Europe. These poikilohydric organisms offer a valuable model owing to their inherent limitations to buffer contrasting environmental conditions. Photobiont type and growth form captured differences in certain physiological traits whose variation was largely determined by evolutionary processes (i.e. phylogenetic history), although the intraspecific component was non-negligible. Seasonal temperature fluctuations also had an impact on trait variation, while nitrogen content depended on photobiont type rather than nitrogen deposition. The inconsistency of trait covariation among and within species prevented establishing major resource use strategies in lichens. However, we did identify a general pattern related to the water-use strategy. Thus, to robustly unveil lichen responses under different climatic scenarios, it is necessary to incorporate both among and within-species trait variation and covariation.

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.

This study describes a diagnostic pitfall in the laboratory diagnosis of patients with sphingomyelinase deficiency (SMD; Niemann-Pick disease types A and B; NPA and NPB), in cases where sphingomyelinase activity was not determined with sphingomyelin as the natural enzymic substrate. Four of 24 SMD patients studied had falsely normal or enhanced activity, when a so-called artificial sphingomyelinase substrate, 2-N-(hexadecanoyl)-amino-4-nitrophenyl phosphorylcholine (HNP), was used, whereas SMD was clear with the sphingomyelin substrate. Those four patients had the Q292 K mutation of the acid sphingomyelinase gene (SMPD1) on at least one allele. Three of the four patients (no data available from one) experienced only late-infantile or juvenile, though distinct, neurological involvement, where learning disabilities, hypo- or areflexia or mild ataxia were initial signs. The laboratory pitfall with HNP substrate, which is used in many laboratories, raises the risk that some SMD patients are overlooked, and it prevents the consideration of a late-manifesting neurological course in some patients as well as the planning of enzyme substitution therapy in non-neurological SMD (NPB) patients. Since classical NPB is very rare, it is suggested that SMD patients with late- or mild-manifesting neurological symptoms should better be assigned to additional SMD subgroups than grouped with NPB.

Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis.

Malformations of the corpus callosum (CC) may occur in many different syndromes. Various forms have been observed. We report seven cases of malformation of the CC. Special attention is directed towards the development of the fornix and hippocampus as a hippocampal commissure is a prerequisite of normal hippocampal development. The clinical disability of the patients presented here differed significantly, which may in part be due to the different extent of this cerebral malformation. The relevance of the concomitant aplasia of the limbic system has not been addressed in detail previously in the literature.

Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23).

Familial reciprocal translocations are generally without phenotypic effect, although there is some evidence for a small excess of mental retardation and congenital malformations (MR/CM) in children carrying familial reciprocal translocations. Possible mechanisms whereby such translocations could have a phenotypic effect include cryptic unbalanced rearrangements, uniparental disomy, and disruption of putative genes at the breakpoints, unmasking recessive alleles on the normal homologs. Mosaicism for a supernumerary derivative chromosome in a carrier of a familial reciprocal translocation has not yet been described. We report a boy presenting with MR/CM and a familial reciprocal translocation, t(17;22)(q24.2;q11.23), inherited from the mother. Cytogenetic analysis of peripheral blood lymphocytes showed a balanced karyotype in all 32 analyzed metaphase spreads. Molecular genetic analysis was consistent with biparental origin of the normal homologs. In metaphase spreads from skin fibroblasts a supernumerary chromosome was found in all 24 cells analyzed and could be identified as der(22)t(17;22)(q24.2;q11.23). Several possible segregation modes at meiosis I followed by meiosis II or postzygotic nondisjunction of the der(22) might have led to this unusual chromosomal mosaicism. We propose hidden mosaicism as a possible cause for MR/CM in patients who apparently carry a balanced familial reciprocal translocation.

[Differential diagnosis of liver disease by means of sonography: correlation with scintigraphy and angiography (author's transl)]. / Sonographische Differentialdiagnose pathologischer Leberprozesse: Korrelation mit Szintigraphie und Angiographie.

The value of sonography of the liver is assessed and compared with angiography and scintigraphy on the basis of case material from 102 patients, representing localized and diffuse liver processes. The diagnostic accuracy depends on the characteristic acoustic impedance differences in the examined tissue. Diffuse liver disease and processes without clearly defined acoustic borderlines may cause diagnostic difficulties and differentiation can only be attempted by additional clinical information. Defined tumours represent the main field of application. The combined use of ultrasound, scintigraphy and angiography permits a correct diagnosis to be made in nearly 90% of cases. Differential diagnosis between cystic and solid processes is possible only by ultrasound.

[Differential diagnosis of space-occupying lesions of kidneys (comparison between IVP, angiography and ultra-sound) (author's transl)]. / Zur Differentialdiagnose renaler Raumforderungen (Vergleichende Untersuchungen Zum Informationsumfang von Ausscheidungsurographie, Angiographie und Ultraschall)

On 77 IVP's it can be shown that correct assessment of the identity of space-occupying lesions of the kidneys is difficult (correct diagnosis in 39% of cystic and 10% of solid conditions). Improvement can be expected from early tomography of IVP's by improved pictures of the parenchyma, mainly with ultra-sound which separates cystic from solid conditions. Correlation of these techniques appears sufficient for cystic processes. Angiography is indicated for solid tumors and doubtful ultra-sound findings.

[Use and effectiveness of scintigraphy, sonography and angiography in circumscribed disease of the liver (author's transl)]. / Einstaz und Leistungbreite von szintigraphie, Sonographie und Angiographie bei umschriebenen Leberprozessen

The effectiveness of scintigraphy, sonography and angiography is compared in a material of 140 cases of circumscribed disease of the liver. Typical clinical starting points are defined as points of reference of the diagnostic techniques. Clinical diagnosis is very safe in cases of secondary blastoma and hepatocellular carcinoma of the liver. Since the great majority of these conditions cause space-occupying lesions of the liver, problems of radiologic diagnosis are confined to the smaller number of clinically ill-defined lesions. For the diagnosis of secondary blastomas and cystic process of all kinds, scintigraphy and sonography are not improved by angiography. Solid space-occupying lesions of unknown origin, however, can only be recognized with angiography. Histology of both benign and malignant processes will be correct in more than 90% of cases.

[The basis of tumor verification using thermography]. / Untersuchungen über die Grundlagen des Tumornachweises mittels Thermographie.

The gradient between interior body temperature and external temperature was gradually measured in young pigs, since their skin resembles the properties of human skin. The interior temperature appeared to extend to 2.5 cm under the surface of skin. Then it drops, at first slowly and from 1 cm under the surface rapidly. Tumors or inflammations can only warm the skin directly when their site is 1 cm or less under the skin. Tumors which lie deeper may warm the skin via reflex zones. Warming by heat conduction is prevented by convection. Heating plates inserted 1.8 cm and 2 cm under the skin surface and heated 5 degrees beyond surrounding temperature do not warm the skin surface. This can be demonstrated by thermography. The importance of these results for thermographic tumor diagnosis is discussed.