Sex chromosome aneuploidies (SCAs) are common chromosomal disorders characterised by an atypical number of sex chromosomes. Turner syndrome (TS), Klinefelter syndrome (KS), and Jacobs syndrome (JS) are associated with a wide spectrum of skeletal manifestations, including craniofacial and limb anomalies. This systematic review aimed to analyse the incidence of skeletal abnormalities in selected SCAs based on case reports. In this review, 55 articles were included from the MEDLINE/PubMed and Google Scholar databases, according to PRISMA guidelines. High-arched palate, skeletal class II, and cubitus valgus were most frequently demonstrated among TS patients. Patients with KS and JS most often presented micrognathia, hypertelorism, and flat nasal bridge in the craniofacial region. In contrast, radioulnar synostosis, clinodactyly, and pes planus could be observed in the limbs of KS patients. The presence of dysmorphic facial features and limb malformations may indicate SCAs, which are underdiagnosed in the general population due to a variety of phenotypes.
We present the case of a 61-year-old female who developed polymyositis after atorvastatin treatment. She was admitted to hospital in July 2014 with fever, weight loss, myalgia, and limb weakness. Additionally in anamnesis, the following are seen: diabetes type 2, hypertension, and hypercholesterolaemia (treated with atorvastatin 20 mg daily for 6 months). In physical examination muscle weakness was observed (upper limbs 4° and lower limbs 3° in Lovett scale). Laboratory tests revealed increased levels of creatine kinase (CK)
tion, compared to 3.9% in 2013 [3]. In the general population, cardiovascular mortality in Poland in 2013 was about 46%, in people over 65 years of age 53%, and in those over 80 years of age more than 80% [4]. Hypertension is one of the most important risk factors for cardiovascular diseases: coronary heart disease, heart failure, and stroke [5]. Hypotensive treatment in very elderly patients significantly reduces the frequency of cardiovascular incidents and total mortality [6][7][8]. According to the WOBASZ II study, 43% of the Polish population aged 19-99 years suffers from hypertension, more often men than women (43.7% vs. 40.4%) [9, 10].
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