| 1. |
- Tabiri, S, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 2. |
|
|
| 3. |
- Palmer, Elizabeth E., et al.
(författare)
-
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
- 2023
-
Ingår i: Molecular Psychiatry. - : SPRINGERNATURE. - 1359-4184 .- 1476-5578. ; 28:2, s. 668-697
-
Tidskriftsartikel (refereegranskat)abstract
- Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a "shift" of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.
|
|
| 4. |
- Sausdal, David, et al.
(författare)
-
A collaborator? : Ethnographic issues of police and peer suspicion
- 2023
-
Ingår i: Routledge International Handbook of Police Ethnography. - London : Routledge. - 9780367539399 - 9781003083795 ; , s. 147-165
-
Bokkapitel (refereegranskat)abstract
- Suspicion is endemic to police ethnography. As research has demonstrated, the police repeatedly probe into the ethnographer’s intent and purposes. Is the ethnographer observing police work to ‘simply’ carry out research? Or is the ethnographer actually there to help develop the profession or, worse, to deviously disclose police secrets? Yet, doing police ethnography not only involves the ethnographer being questioned by the police; it also frequently involves being asked similarly interrogating questions by academic peers. Amplified by present-day critiques of police misconduct, colleagues ask about the police ethnographer’s commitment. Has the ethnographer, for example, ‘gone native’ and thereby lost the ability to shine a needed critical light? Bearing such question(ing)s in mind, this chapter introduces the methodological concept of ‘the collaborator’. Using the ambiguous/antagonymic meaning of the word, the chapter considers how police ethnography often involves navigating contested waters with both police and peers questioning the ethnographer’s allegiances, thereby wrestling with continuous queries about whether the ethnographer is in fact collaborating with or against the police. In doing this, the chapter adds to existing methodological debates about the ethics and loyalties of (police) ethnography, pointing to how the question of suspicion and side-taking extend from the offices of the police to the hallways of academia. Drawing on the author’s own experiences of studying transnational policing practices across Europe, the chapter concludes by offering five recommendations as to how the police ethnographer may continue to produce quality ethnography while, for better or worse, being cast as a collaborator.
|
|
| 5. |
- Stattin, Pär, et al.
(författare)
-
Population-based study of disease trajectory after radical treatment for high-risk prostate cancer
- 2024
-
Ingår i: BJU International. - : John Wiley & Sons. - 1464-4096 .- 1464-410X.
-
Tidskriftsartikel (refereegranskat)abstract
- Objectives: To investigate long-term disease trajectories among men with high-risk localized or locally advanced prostate cancer (HRLPC) treated with radical radiotherapy (RT) or radical prostatectomy (RP).Material and Methods: Men diagnosed with HRLPC in 2006–2020, who received primary RT or RP, were identified from the Prostate Cancer data Base Sweden (PCBaSe) 5.0. Follow-up ended on 30 June 2021. Treatment trajectories and risk of death from prostate cancer (PCa) or other causes were assessed by competing risk analyses using cumulative incidence for each event.Results: In total, 8317 men received RT and 4923 men underwent RP. The median (interquartile range) follow-up was 6.2 (3.6–9.5) years. After RT, the 10-year risk of PCa-related death was 0.13 (95% confidence interval [CI] 0.12–0.14) and the risk of death from all causes was 0.32 (95% CI 0.31–0.34). After RP, the 10-year risk of PCa-related death was 0.09 (95% CI 0.08–0.10) and the risk of death from all causes was 0.19 (95% CI 0.18–0.21). The 10-year risks of androgen deprivation therapy (ADT) as secondary treatment were 0.42 (95% CI 0.41–0.44) and 0.21 (95% CI 0.20–0.23) after RT and RP, respectively. Among men who received ADT as secondary treatment, the risk of PCa-related death at 10 years after initiation of ADT was 0.33 (95% CI 030–0.36) after RT and 0.27 (95% CI 0.24–0.30) after RP.Conclusion: Approximately one in 10 men with HRLPC who received primary RT or RP had died from PCa 10 years after diagnosis. Approximately one in three men who received secondary ADT, an indication of PCa progression, died from PCa 10 years after the start of ADT. Early identification and aggressive treatment of men with high risk of progression after radical treatment are warranted.
|
|
