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As understanding of the neurobiological basis of cognitive impairment in Down syndrome (DS) advances and new pharmaceutical interventions targeting neurodevelopment become available, an in-depth understanding of the family perspective is essential to inform research efforts. A mixed methods study was conducted with parents of individuals with DS to learn about attitudes toward pharmacological interventions to enhance cognition, participation in clinical research trials in DS, and the relationship between child/family-specific factors and parent attitudes.

Parents completed an online survey (N = 37) assessing family/child sociodemographic factors and to capture thoughts on cognitive enhancement and participation in clinical drug trials. A subset of interested parents participated in a follow-up phone interview (N = 21) or focus group (N = 3; 1 FG). Double-blind thematic analysis was used to analyze qualitative data.

Parents' attitudes toward improving cognition, reversing intellectual disability, and pars for enhancing cognition in DS. Child-specific factors, logistical and safety considerations, and personal belief systems all inform parent attitudes and decision making. The findings reflect the importance of incorporating parent perspectives and values in research direction and design.
The purpose of this study is to identify whether the well-described pattern of declining adaptive functioning across age among children with autism spectrum disorder (ASD) also exists among intellectually gifted children with ASD because their cognitive abilities might serve as a protective factor.

Data from the Simons Simplex Collection were used to identify 51 participants with full-scale intelligence (IQ) scores of 130 or above with this group labeled as the intellectually gifted range (IGR). Two comparison samples of children with IQs in the intellectual disability range (IDR; < 70 Standard Score [SS]) and average range (AR; 85-115 SS) were created based on matching of age (±2 years), maternal education level, and sex.

Multivariate analysis of variance indicated a main overall effect for the IQ group on a measure of adaptive skills (Λ = 0.61, F(6, 296), p < 0.001). Post hoc comparisons revealed that the IDR group scored lower on all subscales than the AR and IGR groups, but the scores between the latter groups did not differ from one another in socialization and daily living skills (DLS) domains. Age was negatively correlated with adaptive communication scores in all groups but only associated with socialization and DLS domain scores in the IGR group (r = -0.51 and -0.48, respectively).

The findings suggest that intellectual giftedness does not serve as a protective factor against age-related declines in adaptive functioning among individuals with ASD.
The findings suggest that intellectual giftedness does not serve as a protective factor against age-related declines in adaptive functioning among individuals with ASD.The photoelectrochemical response of a photocathode made from a colloidal solution of boron (B) and phosphorus (P) codoped silicon (Si) quantum dots (QDs) 2 to 11 nm in diameters is studied. Since codoped Si QDs are dispersible in alcohol and water due to the hydrophilic surface, a photoelectrode with smooth surface is produced by drop-coating the QD solution on an indium tin oxide (ITO) substrate. The codoping provides high oxidation resistance to Si QDs and makes the electrode operate as a photocathode. The photoelectrochemical response of a Si QD photoelectrode depends strongly on the size of QDs; there is a transition from anodic to cathodic photocurrent around 4 nm in diameter. Below the size, anodic photocurrent due to self-oxidation of Si QDs is observed, while above the size, cathodic photocurrent due to electron transfer across the interface is observed. The cathodic photocurrent increases with increasing the size, and in some samples, it is observed for more than 3000 sec under intermittent light irradiation.
Hypercalcaemia is a very common endocrine condition, yet severe hypercalcaemia as a result of fungal infection is rarely described. There are have only been two reported cases in the literature of hypercalcaemia associated with Cryptococcus infection. Although the mechanism of hypercalcaemia in these infections is not clear, it has been suggested that it could be driven by the extra-renal production of 1-alpha-hydroxylase by macrophages in granulomas. We describe the case of a 55-year-old woman with a 1,25-OH D-mediated refractory hypercalcaemia in the context of a Cryptococcus neoformans infection. She required treatment with antifungals, pamidronate, calcitonin, denosumab and high-dose glucocorticoids. A disseminated fungal infection should be suspected in immunosuppressed individuals presenting with hypercalcaemia.

In immunocompromised patients with unexplained hypercalcaemia, fungal infections should be considered as the differential diagnoses; Glucocorticoids may be considered to treat 1,25-OH D-driven hypercalcaemia; however, the benefits of lowering the calcium need to be balanced against the risk of exacerbating an underlying infection; Fluconazole might be an effective therapy for both treatment of the hypercalcaemia by lowering 1,25-OH D levels as well as of the fungal infection.
In immunocompromised patients with unexplained hypercalcaemia, fungal infections should be considered as the differential diagnoses; Glucocorticoids may be considered to treat 1,25-OH D-driven hypercalcaemia; however, the benefits of lowering the calcium need to be balanced against the risk of exacerbating an underlying infection; Fluconazole might be an effective therapy for both treatment of the hypercalcaemia by lowering 1,25-OH D levels as well as of the fungal infection.
We observed a novel therapeutic response with cabergoline in a male patient with a dopamine-secreting head and neck paraganglioma (HNPGL), macroprolactinoma and germline succinate dehydrogenase C mutation (SDHC). The macroprolactinoma was treated with cabergoline which gave an excellent response. He was found to have raised plasma 3-methoxytyramine of 1014 pmol/L (NR 0-180 pmol/L); but it was unclear if this was a drug-induced phenomenon from dopamine agonist (DA) therapy. Talazoparib supplier Cabergoline was stopped for 4 weeks and the 3-methoxytyramine level increased significantly to 2185 pmol/L, suggesting a biochemical response of his HNPGL. Subsequently, Gallium-68 Dotatate PET and MRI (Gallium-68 Dotatate PET/MRI) demonstrated a second lesion in the sacrum. Both the HNPGL and metastatic sacral deposit received external beam radiotherapy with a good biochemical and radiological response.

Our case report highlights the rare potential of germline SDHC mutations causing metastatic paraganglioma and concurrent pituitary tumours.
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