De Sacramenten : Toelichting op de Zondagen XXIII tot XXXIII Van Den Heidelbergsen Cate

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Identifying Coping Strategies Used by Transgender Individuals in Response to Stressors during and after Gender-Affirming Treatments—An Explorative Study

Background: Gender-affirming treatments are reported to improve mental health significantly. However, a substantial number of transgender individuals report a relapse in, or persistence of, mental health problems following gender-affirming treatments. This is due to multiple stressors occurring during this period, and in general as a consequence of widespread stigma and minority stress. Aim: The aim of this pilot study was to identify different coping strategies that transgender individuals use in response to stressors prior to and following gender-affirming treatments, as mediator of mental health. Methods: Qualitative interviews were conducted to better understand the treatment outcomes and healthcare experiences of Dutch transgender individuals who had received gender-affirming treatments. Nineteen participants were included, of which 12 identified as (transgender) male, six as (transgender) female and one as transgender. Outcomes: Inductive coding and theory-informed thematic analysis were used to assess stressors (ncodes = 335) and coping strategies (ncodes = 869). Results: Four stressor domains were identified, including lack of support system, stressors related to transition, and physical and psychosocial stressors post-transition. We identified six adaptive coping strategies of which acceptance, help seeking and adaptive cognitions concerning gender and transition were reported most frequently. Of the seven maladaptive strategies that we identified, social isolation and maladaptive cognitions concerning gender and transition were the most-reported maladaptive coping strategies Clinical implications: The results indicated that transgender individuals may experience significant stress, both transgender-specific and non-specific, prior to and following gender-affirming treatments and, as a result, use many coping strategies to adapt. Increased awareness of stressors and (mal)adaptive coping strategies may help to improve mental healthcare and overall support for transgender individuals. Strengths and Limitations: This is the first (pilot) study to provide insight into the range of stressors that transgender individuals experience during and after gender-affirming treatments, as well as the variety of coping strategies that are used to adapt. However, since this was a pilot study assumptions and generalizations of the evidence should be made cautiously. Conclusion: Results of this pilot study showed that transgender individuals may undergo significant stress during and after gender-affirming medical treatment related to the treatments and the social experiences that occur during this period, and as a result, use a range of coping strategies to adapt to the stress

Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation

Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart and hepatosplenomegaly. This was confirmed biochemically by the demonstration of glycogen accumulation in skeletal muscle and undetectable acid alpha-1,4-glucosidase activity in fibroblasts. Further biochemical studies in this patient surprisingly revealed homocystinuria and methylmalonic aciduria, suggesting a defect in the uptake, transport or intracellular metabolism of vitamin B12. Studies in cultured fibroblasts from the patient revealed a low uptake of [57Co]cyanocobalamin and an impaired intracellular conversion to both 5'-deoxyadenosylcobalamin and methylcobalamin. Moreover, the incorporation of labelled propionate into proteins as well as the formation of labelled methionine from labelled 5-methyltetrahydrofolate was deficient in fibroblasts from the patient. Complementation studies revealed the presence of the cblC mutation in this patient. No treatment was initiated and the patient died at the age of 31 days. We conclude that the patient was affected by both glycogen storage disease type II and cblC disease. The remarkable combination of these two rare inborn errors can be the result of the consanguinity of the parent

Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin

An in depth study on growth, bone age, cranial CT scans and plasma somatomedin activity (SM-act) was made of 22 children with Sotos syndrome. In addition to the known characteristics of the syndrome, thin and brittle nails were found in three adolescent patients. The mean body stature, expressed as standard deviation score, increased from 2.2-2.8 in the 1st year of life, followed by a fall to 2.0 in the 2nd year. Thereafter the SDS increased slowly to values of 3.0 at 10 years of age. At least two subjects have reached an exceptionally tall final stature. After the age of 2 years, delta SDS/year remained very stable (-0.1-0.2), concurring with growth velocities in the upper normal range. Bone age was advanced in all patients. Cranial CT scans showed ventricular widening, mid-line cava and Sylvian anomalies in nine, six, and three patients respectively. SM-act dropped from high or normal values in the 1st year, to below normal from 1-5 years, and returned thereafter to the lower half of normal or below the normal rang