Additional characterization of patients using anabolic androgenic steroids (AAS) is needed to improve harm reduction and cessation resources for patients. Our group sought to expand upon the currently limited data regarding AAS use by performing a web-based survey assessing experiences of males using AAS. Participants included men over the age of 18 with history of AAS use within the past 5 years. Data were collected between August 2019 and April 2020. Primary outcome measures included age when starting AAS, dose of AAS, motivations for use, experiences with health-care professionals, and rate of successful cessation. The survey was accessed 3640 times, resulting in 2385 completed surveys meeting the inclusion criteria (68.93% participation rate). Average participant age was 31.69 ± 10.09 years. Over half of respondents were from the United States ( n = 1271, 53.3%). Motives to use AAS included improving appearance ( n = 1959, 82.2%), strength gain ( n = 1192, 50%), and self-esteem/body image issues ( n = 712, 29.87%). Participants rated physicians poorly, regarding knowledge of AAS (4.08 ± 2.23). Most participants did not reveal AAS use to their health-care providers ( n = 1338, 56.1%); of those that did, 55.30% ( n = 579) reported feeling discriminated against for their use. Of 46.16% ( n = 1101) attempting AAS cessation, 60.22% ( n = 663) were unsuccessful. Challenges in the management of AAS use include early onset of use, supraphysiologic doses used, and frequently present body image disorders stress. Distrust of health-care providers, poor cessation rates, and lack of physician training further exacerbate this. These findings should serve to reinforce previous calls to action for further research on the treatment of AAS use disorder.
Anabolic androgenic steroid (AAS) and performanceenhancing drug (PED) use is a prevalent medical issue, especially among men, with an estimated 2.9-4 million Americans using AAS in their lifetime. Prior studies of AAS use reveal an association with polycythemia, dyslipidemia, infertility, hypertension, left ventricular hypertrophy, and multiple behavioral disorders. AAS withdrawal syndrome, a state of depression, anhedonia, and sexual dysfunction after discontinuing AAS use, is a common barrier to successful cessation. Clinical resources for these patients and training of physicians on management of the patient using AAS are limited. Many men are hesitant to seek traditional medical care due to fear of judgment and lack of confidence in physician knowledge base regarding AAS. While proposed approaches to weaning patients off AAS are published, guidance on harm reduction for actively using patients remains sparse. Medical education regarding the management of AAS use disorder is paramount to improving care of this currently underserved patient population. Management of these patients must be non-judgmental and focus on patient education, harm reduction, and support for cessation. The approach to harm reduction should be guided by the specific AAS/ PEDs used.
Hemophagocytic lymphohistiocytosis (HLH) is a rare and often deadly syndrome characterized by severe inflammation and cytokine dysregulation. The disease is defined by the HLH-2004 criteria, requiring five of eight findings, and is further differentiated into either primary or secondary causes. Primary HLH tends to be of genetic etiology, while secondary HLH results from other insults such as infection. Secondary HLH is most commonly associated with viral infections in immunocompromised patients. Acute cytomegalovirus (CMV) associated HLH in the immunocompetent host is exceedingly rare and only documented in four case reports to date. We describe the fifth documented case of CMV-associated HLH in an immunocompetent patient, and furthermore, we demonstrate that this patient is the first published case of its type to satisfy all eight of HLH-2004 criteria.
Adenine phosphoribosyltransferase (APRT) deficiency (OMIM #614723) is a rare autosomal recessive defect in the purine salvage pathway that causes excessive production of 2,8-dihydroxyadenine, leading to nephrolithiasis and chronic kidney disease (CKD). This case report describes the natural history of CKD in untreated APRT deficiency. We describe a novel APRT mutation (chr16:88877985 G / C; c.195 C>/G; p.His54Asp) presenting with CKD without nephrolithiasis. The patient initially required dialysis, but kidney function improved with allopurinol. We reviewed APRT deficiency reported in the literature to determine the loss of kidney function in individuals with untreated APRT deficiency and its relationship to nephrolithiasis. We identified 95 individuals in whom kidney function was assessed prior to treatment. There was a bimodal distribution of kidney failure. AKI occurred frequently in childhood due to obstructing nephrolithiasis or crystalline nephropathy and was usually reversible. CKD developed after age 20 in all patients irrespective of nephrolithiasis history, with 36/42 patients > 40 years of age having at least stage 3 CKD, and 24/42 having an eGFR > 10 mL/min/1.73m2 or being on dialysis. There were 13 adults without nephrolithiasis and 50 adults with nephrolithiasis. The mean age of end-stage renal diesease (ESRD) was 50.52 ± 13.9 for those without nephrolithiasis and 43.4 ± 15.8 years for those with nephrolithiasis (p = 0.24). APRT deficiency is associated with slowly progressive CKD that occurs independently of nephrolithiasis. Diagnosis should be considered in all individuals with chronic tubulointerstitial kidney disease, with or without the presence of nephrolithiasis. In our patient, allopurinol 300 mg/day resulted in improvement of kidney function. .
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