A mass mortality of fishes caused by receding water levels in the vegetated littoral zone of the West Kleinemonde Estuary,South Africa

On 15 November 2017 the mouth of the West Kleinemonde Estuary breached following heavy catchment rains and increased river flow. The water level in the estuary following mouth opening decreased by 1.65 m within 24 h, resulting in an almost complete draining of the littoral zone where large beds of the aquatic macrophyte Ruppia cirrhosa and mats of the associated filamentous algae were present. As the water depth within the plant beds decreased, the macrophytes, together with the algal filaments, created an increasingly dense mat, trapping fish that were resident, foraging or passing through the littoral zone. By 16 November 2017 large numbers of fishes belonging to at least 20 species were trapped in pools and depressions within the littoral, as well as within the R. cirrhosa beds and filamentous algal mats in the lower reaches of this system. Other affected taxa included crustaceans, especially isopods, and large numbers of small bivalves attached to macrophyte vegetation. Beneficiaries of the fish kill, in terms of unexpected food availability, included a variety of piscivorous bird species and the Cape clawless otter Aonyx capensis. This is the first documented account of a diverse species fish kill associated with estuary mouth breaching.     

Norian-Rhaetian reefs in Argolis Peninsula,Greece

Summary Upper Triassic to Lower Jurassic shallow-water carbonate sequences of the ‘Pantokrator limestones’ are widely distributed in the Argolis Peninsula, southern Greece. Within this sequence are some reef or reefal structures. In the Mavrovouni Mountains, near Sarmeika, 6 km SE of the ancient theatre of Epidavros (Argolis Peninsula), a Norian-Rhaetian reef complex has been identified. This is the first well-documented Norian-Rhaetian reef in Greece. The main reef builders are coralline sponges (‘sphinctozoans,’ ‘inozoans’, and sclerosponges), followed by dendroid, cerioid, and solitary corals, and algae. The reef type corresponds to a ‘sponge-coral reef’.     

Temporal scaling of molecular evolution in primates and other mammals

Molecular clocks are routinely tested for linearity using a relative rate test and routinely calibrated against the geological time scale using a single or average paleontologically determined time of divergence between living taxa. The relative rate test is a test of parallel rate equality, not a test of rate constancy. Temporal scaling provides a test of rates, where scaling coefficients of 1.0 (isochrony) represent stochastic rate constancy. The fossil record of primates and other mammals is now known in sufficient detail to provide several independent divergence times for major taxonomic groups. Molecular difference should scale negatively or isochronically (scaling coefficients less than 1.0) with divergence time: where two or more divergence times are available, molecular difference appears to scale positively (scaling coefficient greater than 1.0). A minimum of four divergence times are required for adequate statistical power in testing the linear model: scaling is significantly nonlinear and positive in six of 11 published investigations meeting this criterion. All groups studied show some slowdown in rates of molecular change over Cenozoic time. The break from constant or increasing rates during the Mesozoic to decreasing rates during the Cenozoic appears to coincide with extraordinary diversification of placental mammals at the beginning of this era. High rates of selectively neutral molecular change may be concentrated in such discrete events of evolutionary diversification.      

Das Marfan-Syndrom und verwandte monogene Krankheiten der Aorta

Marfan syndrome (MFS) is an autosomal dominant, pleiotropic disease of the connective tissue with a prevalence of about 1 in 5000 persons. MFS is characterized by manifestations in the cardiovascular system, eye, skeleton, lung, skin, and dura mater that show a high degree of intra- and interfamilial variability. Many manifestations develop during or shortly before puberty; severe complications rarely occur before adulthood. Many patients with MFS display a so-called marfanoid habitus with tall stature, dolichostenomelia (long, narrow extremities), dolichocephaly (disproportionately long and narrow head), as well as other skeletal abnormalities such as scoliosis and pes planus. Scoliosis occurs in approximately 60% of those affected, pectus deformities in up to two thirds. Ectopia lentis is seen in many patients with MFS and is almost always bilateral. MFS is characterized by a high risk for complications such as severe scoliosis or pectus deformities, spontaneous pneumothorax, retinal detachment, or glaucoma secondary to lens luxation. The most severe complications occur in the cardiovascular system, including in particular acute dissection of the ascending aorta, which generally follows a long period of progressive aortic dilatation. Before the introduction of modern treatment modalities, the average life expectancy of persons with MFS was estimated to be 32 years. Today, with medical care in multidisciplinary centers, an average life expectancy of over 60 years can be achieved. This article offers a review of established and novel concepts for the diagnosis and treatment of MFS and other hereditary diseases of the aorta.     

Klinik und Genetik des familiären Darmkrebses

Familial clustering of colorectal cancer (CRC) and early disease onset are indicators of an inherited tumour syndrome. Monogenic dispositions account for 3–5% of all CRC cases and are subdivided into hereditary non-polyposis colorectal cancer (HNPCC/Lynch syndrome) and various gastrointestinal polyposis syndromes. Many of these syndromes are characterised by a broad spectrum of extracolonic tumours. Early detection and accurate classification are essential in providing effective surveillance and treatment. Initial diagnosis is based on endoscopic and histological findings as well as on the presence of extracolonic manifestations and family history. Molecular genetic examination is important for the differential diagnosis, evaluation of recurrence risk, and predictive testing of asymptomatic at risk individuals; it is performed according to largely standardised algorithms. Diagnostic difficulties are common among the hamartomatous polyposes due to their broad phenotypic overlap and frequent uncertainties in histological evaluation, as well as among patients with few adenomas. Risk-adapted surveillance guidelines have been established for HNPCC and for the more frequently observed polyposis syndromes. Beyond established tumour syndromes, familial clustering of CRC (which is often of late onset) or the occurrence of few adenomas is likely to be based upon a multifactorial (complex) etiology. Although identification of the underlying genetic risk factors and biological pathways is still in the early stages, rapid progress is being made due to methodical developments such as genome-wide association studies and CNV analysis.     

Mitochondriale Erkrankungen

As outlined in other articles of this issue mitochondrial medicine is a complex area in clinical genetics. Due to the wide variability of clinical presentation in both pediatric and adult patients there are frequent constellations of symptoms that may suggest an underlying mitochondrial disorder. This is a challenge in genetic counseling because basically all patterns of inheritance have to be taken into account??including maternal transmission??but a straightforward genetic testing to confirm or exclude the suggested diagnosis is hampered by the immense genetic heterogeneity of the mitochondrial disease spectrum. This article focuses on a diagnostic strategy and specific aspects of genetic counseling in mitochondrial disorders.     

Botanische Gärten in der Zeit des Kolonialismus. Auf der Jagd nach dem “Grünen Gold”

Plant Transfer and Botanical Gardens in Colonial Times A constant of economic history is the need of natural resources – in the past often of vegetable origin and available only from the countries of natural distribution. These countries often tried to protect their interests against the traders or users by declaring monopoles. Between these both poles botanic gardens acted very successfully and by far not according to modern ethic standards. Results of their activities were the transcontinental movements of plants and the initiation of new agricultural based industries. These should be exemplified by the British botanical gardens and species as tea shrub, rubber tree, and cinchona tree.     

Verlust des Sensibilitäts- und Schmerzempfindens

The sensory nervous system detects pressure, touch, stretching, heat, and cold and translates these stimuli into action potentials. To protect the body from tissue damage acute pain is felt when a stimulus gains a critical intensity. The combination of impaired nociception and autonomic dysfunction is the hallmark of hereditary sensory and autonomic neuropathies (HSAN). Sensory loss in HSAN patients results in ulcerations of hands and feet and may necessitate amputations. Congenital onset of HSAN leads to self-mutilating behavior in affected children. Degeneration of motor neurons can complicate the disease. HSAN is divided into five groups according to clinical symptoms. So far, nine genes have been identified as causative for the disorder. The present article reviews the clinical, genetic, and pathophysiological aspects of HSAN.     

Mosaike bei monogenen Erkrankungen

Mosaicism is defined as the simultaneous presence of cells with different genotypes that originate from a common zygote. Mutations can either be present in germline or somatic cells. Monogenic disorders apparently caused by a de novo mutation may show a recurrence risk due to germline mosaicism in a parent. Duchenne muscular dystrophy is a well investigated example with a high frequency of germline mosaicism and the estimation for the risk of recurrence is based on theoretical models and empirical data. Recently, somatic mutations have been uncovered in various syndromic disorders, such as Proteus syndrome or hemimegalencephaly and respective mutations often show gain-of-function properties. Genetic testing is mainly based on next generation sequencing technologies but still remains challenging; however, detection of somatic mosaicism is expected to be of increasing relevance in the diagnosis of monogenic disorders. Somatic mosaicism may also play a hitherto underestimated role in common disorders.