In an On Medicine blog post, the ojrarediseases presents an article by Chloe Yallop, a runner-up entry in ‘beacon for rare diseases’ and ‘Medics4RareDiseases' 'Student Voice' contest.
Credit: Designed by pch.vector / FreepikThe ‘diagnostic odyssey’ is a term used to describe the often longwinded and unpredictable journey in time between recognition of disease symptoms and diagnosis. Understandably, living with long-term uncertainty and ensuring attendance of healthcare appointments, in conjunction with an already arduous daily life, can have a significant impact on an individual’s mental well-being.
On the other end of the spectrum fall much shorter diagnosis journeys, like that of Maria, daughter of Erin. Although 18 months is a comparatively brief timeframe, Erin stated this was “probably the worst moment of my whole life”, having been re-diagnosed with post-natal depression. Feeling already incredibly anxious with Maria’s struggle to reach milestones, Erin shared her need to advocate for Maria, which required her to “put on armour and battle”.
Diana spoke highly of the delivery of Jane’s diagnosis, where she attended an appointment with a paediatrician who explained things clearly at a level she could comprehend. Unlike Erin, Diana felt many of her questions were answered in this appointment and was offered time to talk again in the future.
Following Jane’s diagnosis, Diana was able to reach out and connect with relevant support groups, which Jane’s doctor also took the time to join – highlighting a simple step professionals can take to support their RD patients. Diana shared how these groups helped her finally achieve a sense of belonging: “They definitely help you to feel you’re not alone”.
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SGLT-2 inhibitors and in-stent restenosis-related events after acute myocardial infarction: an observational study in patients with type 2 diabetes - BMC MedicineBackground No study evaluated the incidence of intra-stent restenosis (ISR)-related events in patients with type 2 diabetes (T2DM) and acute myocardial infarction (AMI) treated or not with sodium/glucose cotransporter 2 inhibitors (SGLT2i). Methods We recruited 377 patients with T2DM and AMI undergoing percutaneous coronary intervention (PCI). Among them, 177 T2DM were treated with SGLT2 inhibitors before PCI. The primary outcome was major adverse cardiovascular events (MACE) defined as cardiac death, re-infarction, and heart failure related to ISR. In patients without ISR, minimal lumen area and minimal lumen diameter were assessed by coronary CT-angiography at 1-year follow-up. Results Glycemic control was similar in SGLT2i-treated patients and never SGLT2i-users. The incidence of ISR-related MACE was higher in never SGLT2i-users compared with SGLT2i-treated patients, an effect independent of glycemic status (HR=0.418, 95% CI=0.241–0.725, P=0.002) and observed also in the subgroup of patients with HbA1c | 7% (HR=0.393, 95% CI=0.157–0.984, P=0.027). In patients without the event, the stent patency was greater in SGLT2i-treated patients compared with never SGLT2i-users at 1-year follow-up. Conclusions SGLT2i treatment in T2DM is associated with a reduced incidence of ISR-related events, independently of glycemic control.
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On Medicine The impact of treatment access on well-being of patients living with a rare disease: reflections from lived experiences of patients with Familial Chylomicronemia Syndrome
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Low serum anti-Müllerian hormone is associated with semen quality in infertile men and not influenced by vitamin D supplementation - BMC MedicineBackground Anti-Müllerian hormone (AMH) is released by testicular Sertoli cells and of great importance during fetal male sexual development, but less is known about the role of circulating AMH during adulthood. In vitro studies have shown that vitamin D may induce AMH transcription, but a controlled trial investigating the possible effect of vitamin D on serum AMH has not been conducted in men. Methods A single-center, double-blinded, randomized placebo-controlled clinical trial (NCT01304927) conducted in Copenhagen, Denmark. A total of 307 infertile men were included and randomly assigned (1:1) to a single dose of 300,000 IU cholecalciferol followed by 1400 IU cholecalciferol + 500 mg of calcium daily (n=151) or placebo (n=156) for 150 days. Difference in serum AMH was a predefined secondary endpoint. Explorative outcomes were associations between serum AMH and gonadal function in infertile men. The primary endpoint was difference in semen quality and has previously been published. Results Infertile men in the lowest AMH tertile had significantly lower sperm concentration (∆T3-1 16 mill/mL (228%); P | 0.001), sperm count (∆T3-1 55 million (262%); P | 0.001), motile sperm count (∆T3-1 28 million (255%); P | 0.001), progressive motile sperm count (∆T3-1 18 million (300%); P | 0.001), testis size (∆T3-1 2.7 mL (16%); P | 0.001), serum inhibin B (∆T3-1 72 pg/mL (59%); P | 0.001), inhibin B/FSH ratio (∆T3-1 48 (145%); P | 0.001), and higher FSH (∆T3-1 2.6 (38%); P | 0.001) than the tertile of infertile men with highest serum AMH. Vitamin D supplementation had no effect on serum AMH compared with placebo treatment. Conclusions In infertile men, low serum AMH is associated with severely impaired gonadal function illustrated by poor semen quality and lower testosterone/LH ratio. Serum AMH in infertile men was not influenced by vitamin D supplementation.
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Even small bouts of exercise protective against heart disease, cancerIn a recent article published in the British Journal of Sports Medicine, researchers explored the relationship between non-occupational physical activity (PA) levels and poor cardiovascular diseases (CVDs) and cancer outcomes, including mortality.
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Adam Driver rules out fan theory about new dinosaur movie 65'This seemed unique and weird.'
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