This study surveyed patients admitted to the emergency department or surgical units at a single hospital to compare an emoji-based pain scale with a conventional numeric rating scale.
Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly globotriaosylceramide or Gb3) and its derivative globotriaosylsphingosine or lyso-Gb3. Classic FD is a multisystem disorder which initially presents in childhood with neuropathic pain and dermatological, gastrointestinal, ocular, and cochleo-vestibular manifestations. Over time, end-organ damage such as renal failure, cardiac arrhythmia and early stroke may develop leading to reduced life expectancy in the absence of specific treatment.Case presentation: We describe two Kazakh patients who presented in adulthood with a delayed diagnosis. We conducted also a family screening through cascade genotyping.Conclusion: This is the first description of cases of Fabry disease in Central Asia. An extensive family pedigree enabled the identification of ten additional family members. Patients with rare genetic diseases often experience substantial delays in diagnosis due to their rarity and non-specific symptoms, which can negatively impact their management and delay treatment. FD may be difficult to diagnose because of the non-specificity of its early and later-onset symptoms and its X-linked inheritance. Raising awareness of clinicians is important for earlier diagnosis and optimal outcome of specific therapies.
This nationwide analysis shows that patients undergoing surgery with perioperative COVID-19 had higher risks of 30-day mortality & morbidity, especially thromboembolic events, compared to matched patients undergoing surgeries of similar urgency & complexity.
The outcomes of emergency general surgery patients (EGS) having COVID19 are unknown. Our study across 52 countries demonstrates that COVID19 patients undergoing EGS have higher mortality and pulmonary complications especially in the presence of preoperative respiratory findings.
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