Your diagnosis will not protect you (and neither will academia): Reckoning with education and Dis-Ease.

This article is an autoethnographic exploration of institutionalized responses to uncontrolled substance use informed by medical paradigms. Theoretically, it is situated within a lineage of work in critical drug and Mad studies that challenge assumptions about choice, including - and especially - by interrogating the extent to which choice is an apt conceptual tool for making sense of "addiction." Throughout, I focus on two discrete but analogous events, both of which entailed binging on substances, entering altered states, and being rejected from academic spaces through a lens of biomedicine. My objective in doing so is two-fold: First, I hope to incite what I feel is a long overdue conversation between Mad and critical drug studies in service of theoretical cross-pollination. Second, I wish to outline how codifying people as Mad and addicted can amount to a "cutting out" (Smith, 1978) of relevant extraneous factors that motivate one's deviant actions, including within education institutions whose members research these same identities. I conclude by discussing the implications of this "cutting out" for my and possibly others' academic trajectories.

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study.

BACKGROUND: Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Early recognition, diagnosis, and treatment of this progressive, multisystem disease by enzyme replacement therapy (ERT) can lead to improved outcomes and reduced mortality. METHODS: This report documents the diagnostic journey and treatment with ERT of three siblings with MPS IVA. Clinical outcome measures included growth, endurance, imaging, cardiac, respiratory, ophthalmology, and laboratory evaluations. RESULTS: Three siblings, diagnosed at 14.7, 10.1, and 3.2 years of age, demonstrated clinical improvement with weekly infusions of 2.0 mg/kg elosulfase alfa (Vimizim®, BioMarin Pharmaceutical, Novato, CA, USA). Patient 1 (oldest sibling) and Patient 2 (middle sibling) experienced a diagnostic delay of 8 years 7 months and 4 years after symptom onset, respectively. All three patients demonstrated improvements in growth, 6-min walk distance, joint range of motion, and respiratory function after 30 months of ERT. The treatment was well tolerated without any adverse events. CONCLUSIONS: This case series highlights the importance of early recognition of the clinical and imaging findings that are initially subtle in MPS IVA. Early treatment with ERT is necessary to slow irreversible disease progression and improve patient outcomes. The oldest sibling experienced improvements in mobility despite severe symptoms resulting from a late diagnosis. When evaluating patients with skeletal anomalies, imaging multiple body regions is recommended. When findings such as anterior beaking of vertebrae or bilateral femoral head dysplasia are present, MPS IVA should be included in the differential diagnosis. Newborn screening must be considered for early detection, accurate diagnosis, and initiation of treatment to reduce morbidity.

Newborn Screening for Pompe Disease: Pennsylvania Experience.

Pennsylvania started newborn screening for Pompe disease in February 2016. Between February 2016 and December 2019, 531,139 newborns were screened. Alpha-Glucosidase (GAA) enzyme activity is measured by flow-injection tandem mass spectrometry (FIA/MS/MS) and full sequencing of the GAA gene is performed as a second-tier test in all newborns with low GAA enzyme activity [<2.10 micromole/L/h]. A total of 115 newborns had low GAA enzyme activity and abnormal genetic testing and were referred to metabolic centers. Two newborns were diagnosed with Infantile Onset Pompe Disease (IOPD), and 31 newborns were confirmed to have Late Onset Pompe Disease (LOPD). The incidence of IOPD + LOPD was 1:16,095. A total of 30 patients were compound heterozygous for one pathogenic and one variant of unknown significance (VUS) mutation or two VUS mutations and were defined as suspected LOPD. The incidence of IOPD + LOPD + suspected LOPD was 1: 8431 in PA. We also found 35 carriers, 15 pseudodeficiency carriers, and 2 false positive newborns.

Income generation and attitudes towards addiction treatment among people who use illicit drugs in a Canadian setting.

INTRODUCTION: Socioeconomically marginalized people who use illicit drugs (PWUD) often engage in alternative income generating activities to meet their basic needs. These activities commonly carry a number of health and social risks, which may prompt some PWUD to consider addiction treatment to reduce their drug use or drug-related expenses. We sought to determine whether engaging in certain forms of income generation was independently associated with self-reported need for addiction treatment among a cohort of PWUD in Vancouver, Canada. METHODS: Data from two prospective cohorts of PWUD in Vancouver were used in generalized estimating equations to identify factors associated with self-reported need for addiction treatment, with a focus on income generating activities. RESULTS: Between June 2013 and May 2014, 1285 respondents participated in the study of whom 483 (34.1%) were female and 396 (30.8%) indicated that they needed addiction treatment. In final multivariate analyses, key factors significantly and positively associated with self-reported need for addiction treatment included engaging in illegal income generating activities (adjusted odds ratio [AOR]=1.96, 95% confidence interval [CI}: 1.11-3.46); sex work (AOR=1.61, 95% CI: 1.05-2.47), homelessness (AOR=1.65, 95% CI: 1.22-2.25); and recent engagement in counselling (AOR=1.85, 95% CI: 1.40-2.44). DISCUSSION: Our results suggest that key markers of socioeconomic marginalization are strongly linked with a stated need for addiction treatment. These findings underscore the need to provide appropriate and accessible addiction treatment access to marginalized PWUD and to consider alternative approaches to reduce socioeconomic disadvantage.

The Rise and Stall of Canada's Gender-Equity Revolution.

The growing symmetry in gender roles is a revolutionary change as consequential as technological advances and globalization. We illustrate how the social world in Canada has changed for women and men over the course of the last century, both in terms of greater gender equity and of policies supporting equity. However, some of the significant changes that occurred in the last 100 years have recently stalled, while the overall progress has been uneven for certain subgroups. We suggest reasons for both the stalling and the unevenness and make policy recommendations for reigniting the march to enhanced equality between the sexes.