Een peuter met gelaatsafwijkingen en een opeenstapeling van klachten in de eerste twee levensjaren.

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Coating in vitro of erythrocytes with Tamm Harosfall-Protein

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[Cryopreservation of semen of adolescents and young adult men with cancer]

The importance of cryopreserving semen for young male cancer patients is illustrated in three case descriptions. A 28-year-old man with chronic myeloid leukaemia that resulted in azoospermia, later fathered a child with his semen that had been stored prior to chemotherapy. In an 18-year-old adolescent with non-Hodgkin lymphoma the possibility to store cryopreserved semen was only raised after chemotherapy had been started and had caused azoospermia. This caused the patient serious regret. A 14-year-old boy with acute lymphatic leukaemia had his semen stored despite initial hesitations due to his young age. The cancer hardly ever affects the semen quality to the extent that cryopreservation of the semen becomes impossible. The aim should be to obtain several ejaculates prior to the cancer therapy and to store multiple portions, so that later a number of fertilisation attempts are possible. The primary attending physician is initially responsible for raising the possibility of semen cryopreservation. Ideally, however, all health professionals involved should be aware of this aspect. There is a need for multidisciplinary protocols for oncology centres and sperm banks, so that the timely informing of patients is guaranteed, responsibilities are recorded--with appropriate procedures to prevent unnecessary delay--and procedures that concur with legal requirements and financial constraints are established

Hydrops foetalis als mogelijk gevolg van erfelijke stofwisselingsziekten.

Contains fulltext : 58248.pdf (publisher's version ) (Open Access

An inventory of reasons for sperm donation in formal versus informal settings

The shortage of sperm donors in formal settings (i.e., assisted reproduction clinics) and the availability of sperm donors in informal settings (such as through contacts on the internet) motivated us to investigate why men may prefer either a formal or an informal setting for sperm donation. Interviews with ten sperm donors and non-sperm donors yielded 55 reasons for sperm donation in the two settings. These reasons were categorized according to similarity by 14 sperm donors and non-sperm donors. These categorizations were then structured by means of hierarchical cluster analysis. Reasons favouring formal settings included being legally and physically protected, evading paternal feelings or social consequences, and having a simple, standardized procedure in terms of effort and fi nances. Reasons favouring informal settings related to engagement, the possibility to choose a recipient, lack of rules and regulations, having contact with the donor child, and having an (intimate) bond with the recipient. The overview of reasons identifi ed may help potential sperm donors decide on whether to donate in a formal or informal setting, and may fuel discussions by professionals about the most appropriate conditions and legislation for sperm donation in formal settings

[Hydrops fetalis as an indication for a systematic investigation into the presence of lysosomal storage diseases]

Contains fulltext : 58976.pdf (publisher's version ) (Closed access)As a result of the decreased incidence of immunological hydrops fetalis and increased insight, the role of inborn errors of metabolism (IEM) as a cause of hydrops fetalis has acquired increased significance. This growing awareness of the manifestation of IEM in pregnancy has revealed that some 20 of these disorders may cause hydrops fetalis, accounting for a few percent of all cases. These IEM are, for the most part, lysosomal storage diseases. We recommend that standard metabolites and enzymes reflecting lysosomal storage diseases be measured in the amniotic fluid and the amniocytes already withdrawn for karyotyping. The value of the diagnosis of lysosomal storage diseases lies in the opportunity for risk evaluation, genetic counselling and targeted prenatal diagnostics in case of subsequent pregnancies. Obtaining insight into the possible therapestic interventions during the pregnancy in which the hydrops is observed is not a goal of this protocol since the necessary investigations are too time-consuming

An inventory of reasons for sperm donation in formal versus informal settings

The shortage of sperm donors in formal settings (i.e., assisted reproduction clinics) and the availability of sperm donors in informal settings (such as through contacts on the internet) motivated us to investigate why men may prefer either a formal or an informal setting for sperm donation. Interviews with ten sperm donors and non-sperm donors yielded 55 reasons for sperm donation in the two settings. These reasons were categorized according to similarity by 14 sperm donors and non-sperm donors. These categorizations were then structured by means of hierarchical cluster analysis. Reasons favouring formal settings included being legally and physically protected, evading paternal feelings or social consequences, and having a simple, standardized procedure in terms of effort and fi nances. Reasons favouring informal settings related to engagement, the possibility to choose a recipient, lack of rules and regulations, having contact with the donor child, and having an (intimate) bond with the recipient. The overview of reasons identifi ed may help potential sperm donors decide on whether to donate in a formal or informal setting, and may fuel discussions by professionals about the most appropriate conditions and legislation for sperm donation in formal settings