The impact of potential leakage from the sub-seabed CO2 storage site on the phosphorus transformation in marine sediments - An experimental study.

Carbon Capture and Storage (CCS) in the sub-seabed geological formations is a method of mitigation of carbon dioxide (CO2) emissions to avoid anthropogenic climate change. While CCS can be one of the most promising technologies to reduce atmospheric CO2 in the short and medium term, it raises serious concerns about the potential leakage of gas from storage sites. In the present study, the impact of acidification induced by CO2 leakage from a sub-seabed storage site on geochemical pools, and thus the mobility, of phosphorus (P) in sediment was investigated during laboratory experiments. The experiments were conducted in a hyperbaric chamber at a hydrostatic pressure of 900 kPa, which simulates pressure conditions at a potential sub-seabed CO2 storage site in the southern Baltic Sea. We performed three separate experiments in which the partial pressure of CO2 was: 352 µatm (corresponding pH = 7.7); 1815 µatm (corresponding pH = 7.0), and 9150 µatm (corresponding pH = 6.3). Under pH 7.0 and 6.3, apatite P is transformed into organic and non-apatite inorganic forms, which are less stable than CaP bonds and can be more easily released into the water column. At pH 7.7, P released during mineralization of organic matter and microbial reduction of FeP phases is bound with Ca, and the concentration of this form increases. The obtained results indicate that acidification of bottom water can reduce the efficiency of P burial in marine sediments, which contributes to an increase in P concentration in the water column and promote eutrophication especially in shallow areas.

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.

We report on a 2-year-old Polish girl with typical manifestations of Loeys-Dietz syndrome (LDS), a rare genetic condition belonging to the group of Marfan-related disorders. The characteristic LDS symptoms observed in the girl included craniofacial dysmorphism (craniosynostosis, cleft palate, hypertelorism), arachnodactyly, camptodactyly, scoliosis, joint laxity, talipes equinovarus, translucent and hyperelastic skin, and umbilical hernia. Mild dilatation of the ascending aorta and tortuous course of the left internal carotid artery were recognized during her second year of life. Molecular genetic testing revealed a heterozygous missense mutation (c.1582C>T, p.R528C) in the transforming growth factor beta receptor II gene (TGFBR2). This mutation has been previously associated with LDS in 5 unrelated cases, and was never reported in patients with other Marfan-related disorders. Comparison of the phenotypes of our patient and these 5 individuals with c.1582C>T showed that only the hallmark triad of the syndrome - consisting of hypertelorism, aortic root dilatation/aneurysm, and cleft palate or bifid uvula - was present in all 6 cases. Interestingly, none of the 5 individuals who underwent psychological evaluation showed developmental delay. The pattern of all other LDS features showed interindividual variability. Our data support the recently reported observation that symptoms of LDS can develop at a very young age, making early diagnosis and management essential for these patients. This is the first report on a Polish infant with typical LDS symptoms caused by a TGFBR2 mutation.

Penile metastases from urogenital primaries.

Metastatic tumors of the penis are rare. They are usually secondary to primaries of the genitourinary and gastrointestinal tracts. This entity is usually accompanied by distressing symptoms like dysuria, pain, induration, swelling of the penis and priapism, making immediate intervention necessary. Different methods of treatment are used to achieve the palliative effect: local surgical excision, penis amputation, radiotherapy or chemotherapy. Nevertheless, the prognosis is poor, because the disease is already disseminated and in most cases other metastases will occur soon.

The occurrence of cerebellar hemangioblastoma in numerous first degree relatives with von Hippel-Lindau disease.

Von Hippel-Lindau disease is an autosomal dominant disorder caused by a mutation of VHL gene. The incidence of the disease is one in 36,000 and its clinical manifestation is a familial occurrence of hemangioblastoma of the central nervous system and retina, renal cell cancer and pheochromocytoma. Cerebellar hemangioblastoma is the most frequent or sometimes the only abnormality observed in this syndrome. We present a family with von Hippel-Lindau disease in which four first degree relatives had a cerebellar hemangioblastoma. This neoplasm caused the death of two brothers aged 27 and 24 years old, respectively and their mother aged 62. The third son of this family was affected ten years ago, at the age of 30. The healthy family members are counselled in Oncological Genetic Outpatient Unit in Gdansk.