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Bloom syndrome

Bloom syndrome is a genetic condition characterized by prenatal growth delay and a butterfly rash in the mid-face region. The most serious characteristics of this condition are a predisposition to cancer and infections. Intelligence is usually not affected in this disorder, although mild mental retardation has been seen in some cases. No effective treatment is available at this time. Death from cancer usually occurs before age 30. The disease is believed to be caused by defective DNA repair and it is sometimes classified as a "segmental progeria" ("accelerated aging" disease. more...

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Bloom syndrome is inherited in an autosomal recessive fashion. Both parents must be carriers in order for a child to be affected. The carrier frequency in individuals of Eastern European Ashkenazi ancestry is about 1/100. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of Bloom syndrome.

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Nodularin analyses and toxicity of a Nodularia spumigena (Nostocales, cyanobacteria) water-bloom in the western Gulf of Finland, Baltic Ses, in August
From Phycologia, 5/1/01 by Kankaanpaa, Harri T

During 2-12 August 1999, the development of a surface bloom dominated by the cyanobacterium Nodularia spumigena was followed in the western Gulf of Finland, Baltic Sea. Intense surface scums of aggregated N. spumigena existed on calm days. The low-nutrient N. spumigena-dominated water mass was separated by a front from a nutrient-rich water mass dominated by Aphanizomenon cf. flos-aquae (Nostocales, Cyanobacteria). Owing to inadequate mixing of the two water masses, it is likely that N. spumigena growth was based mainly on the use of internal phosphorus stores. Signs of cell decay were observed on 5 August, and the proportion of empty filaments in the community increased towards the end of the survey period. A high number of Nitzschia spp. (Bacillariophyceae) was recorded within the N. spumigena aggregates on 8 August, suggesting nutrient leakage from the N. spumigena filaments. Senescence of N. spumigena and a decrease in the proportion of intact N. spumigena cells in dry material resulted in decreasing concentrations of cell-bound nodularin (NODLN), from 2.1 to 0.5 g kg^sup -1^ dry weight. No clear temporal trends in NODLN concentrations (

INTRODUCTION

The Baltic Sea is a semi-enclosed, severely eutrophicated brackish sea with seasonal cyanobacterial blooms. Nitrogen and phosphorus, originating from land-based sources and internal loading from anoxic sediments are readily available in the Baltic Sea. Except in enclosed bays and narrow coastal areas close to point sources of pollution, annual primary production is regulated mostly by nitrogen. During the summer periods, when both N and P macronutrients are close to zero in the upper mixed layer, weather conditions and hydrodynamic factors play a key role in triggering cyanobacterial blooms (Kononen et al. 1996) and bringing phosphorus to surface waters.

Massive blooms of NZ fixing cyanobacteria, including Nodularia spumigena Mertens ex Bornet & Flahault, Aphanizomenon flos-aquae (Linnaeus) Ralfs ex Bornet & Flahault and Anabaena Bory ex Bornet & Flahault spp., are common in late summer and limit the use of water for recreation. These blooms are frequently toxic owing to nodularin produced by certain Nodularia strains (Sivonen et al. 1989a). Blooms are also suspected of contributing organic matter that fuels large segments of bottom water hypoxia and anoxia throughout the main basins of the Baltic Sea.

Nodularia spumigena is a nitrogen-fixing cyanobacterium, which forms toxic blooms during the late summer (Sivonen et al. 1989a, b; Kononen et al. 1993). It produces a cyclic pentapeptide hepatotoxin called nodularin (NODLN; Rinehart et al. 1988). There are several NODLN analogues (Namikoshi et al. 1994), but in this paper NODLN refers to cyclo[-Derythro-beta-methylAsp(iso-linkage)-L-Arg-Adda-D-Glu(isolinkage)-N-methyldehydrobutyrine], a water-soluble, cyclic pentapeptide toxin, which is the only reported NODLN analogue produced by the Baltic N. spumigena (Sivonen et al. 1989a).

Baltic Sea NODLN concentrations range from

The acute LD^sub 50^ of NODLN to mice (intraperitoneally, i.p.) is approximately 50 (mu)g kg^sup -1^ (Carmichael et al. 1988). Longterm exposure to NODLN may promote tumours and induce liver cancer (Ohta et al. 1994) and apoptosis (Fladmark et al. 1998). Bioaccumulation of cyanobacterial toxins in fish and mussels is a health issue and a matter of economic importance. Microcystins (MCs), cyclic heptapeptides closely related to NODLN, are persistent in food webs (Sivonen & Jones 1999), but there is little information about the half-life of these toxins or of NODLN in natural biotas.

Conclusions

This case study exemplified the importance of hydrodynamic control to N. spumigena bloom formation. Cell senescence was rapid and was reflected in a subsequent decrease in NODLN concentrations in phytoplankton. The increase in the number of A. flos-aquae and Nitzschia spp., and phytoplankton sedimentation from the surface layer, also contributed to the decrease. The tube ELISA kit was evaluated as a suitable tool for NODLN monitoring. And acute effects of both healthy and degrading N. spumigena bloom to sticklebacks were observed.

ACKNOWLEDGEMENTS

The authors express their gratitude to Ms Maija Huttunen for microscopic analyses and assistance in plankton sampling, Dr Kirsti Lahti (Finnish Environment Institute, Helsinki, Finland) for assistance in ELISA measurements, Mr Henry Soderman for help in sampling, Mr Tero Purokoski for CTD data and Mr Ilkka Lastumaki for nutrient analyses. We are also indebted to the crew of the RN Aranda for invaluable assistance.

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Accepted 28 February 2001

HARRI KANKAANPAA 1*, VESA O. SIPIA1, JORMA S. KUPARINEN1, JENNIFER L. OTT2 AND WAYNE W. CARMICHAEL2

1Finnish Institute of Marine Research, PO Box 33, FIN-00931 Helsinki, Finland 2Department of Biological Sciences, Wright State University, Dayton, Ohio 45435, USA

H.T KANKAANPAA, V.O. SIPIA, J.S. KUPARINEN, J.L. OTT AND W.W. CARMICHAEL. 2001. Nodularin analyses and toxicity of a Nodularia spumigena (Nostocales, Cyanobacteria) water-bloom in the western Gulf of Finland, Baltic Sea, in August 1999. Phycologia 40: 268-274.

* Corresponding author (Kankaanpaa@fimr.fi).

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