RESUMO
Miyoshi myopathy (MM) is an autosomal recessive dysferlinopathy caused by a mutation in the dysferlin (DYSF) gene on chromosome 2p. Recent findings indicate that MM and Lower Girdle Muscular Dystrophy R2 (LGMD2B) are the same disease. We present the case of a 44-year-old male who first experienced symptoms of MM at the age of 19, initially noticing difficulty climbing stairs and standing on his toes. By the age of 29, he had developed significant calf muscle atrophy and weakness, which led to difficulties with walking. Electromyography and nerve conduction studies showed axonal damage and myogenic features. Genetic testing ruled out Charcot-Marie-Tooth disease but identified a pathogenic variant in the DYSF gene. Laboratory tests revealed elevated creatine kinase levels. Photographs of the patient's lower limbs showed significant calf muscle atrophy. Based on clinical, laboratory, and electrophysiological findings, he was diagnosed with MM. This case highlights the importance of genetic testing in diagnosing muscular dystrophies and underscores the need for continued research into gene and cell therapies. To the best of our knowledge, this is one of the first studies reporting a case of MM in Poland.
RESUMO
Acute appendicitis stands as a prevalent cause necessitating surgical intervention globally, predominantly affecting young adults and children, with notably lower incidence among the elderly. Timely diagnosis facilitates effective management, mitigating the risk of severe complications. In this report, we present the case of a 59-year-old patient whose delayed diagnosis and consequently delayed surgical treatment led to serious complications. After the appendectomy, the patient, due to developing sepsis, was transferred to the intensive care unit. On the seventh postoperative day, complications were found in the form of wound dehiscence along with perforation of the jejunum. The second surgery involved a classic laparotomy, encompassing partial resection of the small intestine, and the creation of a single-barrel ileostomy. Further conservative treatment was implemented, and drainage of the abscess was performed. After treatment in the ICU, the patient was transferred to the surgical ward for further treatment. During the hospital stay, further conservative treatment was implemented, resulting in the improvement of the patient's general condition and resolution of symptoms. The patient was discharged home in optimal general condition with recommendations. After six months, the patient was brought to the surgical ward for reconstructive surgery to reestablish gastrointestinal continuity, which was carried out successfully.
RESUMO
Non-bacterial thrombotic endocarditis (NBTE) is a very rare condition characterized by sterile thrombi formation on cardiac valves and is often associated with hypercoagulation states, such as malignancy and autoimmune disorders. We present the case of a 74-year-old patient admitted to the intensive care unit with acute respiratory failure, who had a history of COVID-19 infection five months prior to admission, despite having received certified vaccination. The patient developed NBTE involving the mitral valve, alongside acute respiratory distress syndrome (ARDS). In spite of the exclusion of cancer and systemic connective tissue disorders, the patient's condition rapidly deteriorated, leading to treatment-resistant multi-organ failure and demise, despite aggressive management, including anticoagulation therapy, mechanical ventilation, and renal replacement therapy. This case underscores the need for further research into the mechanisms underlying NBTE in the absence of traditional risk factors. Additionally, it highlights the importance of long-term anticoagulant therapy in NBTE management to mitigate the risk of embolic complications. Our case contributes to the growing body of literature identifying a subset of NBTE cancer-free patients with distinct characteristics, including those associated with current or past COVID-19 infection.