Giant Bilateral Adrenal Myelolipomas in a Non-Compliant Patient with Congenital Adrenal Hyperplasia.

BACKGROUND 21-hydroxylase deficiency, an essential enzyme for glucocorticoid and mineralocorticoid synthesis, is the cause of congenital adrenal hyperplasia (CAH) in more than 95% of cases. It is an autosomal recessive disorder encoded by the CYP21A2 gene, categorized into classical forms, which encompass the salt-wasting (SW) and simple virilizing (SV) forms, as well as the nonclassical form (NC). The aim of medical treatment is to replace missing glucocorticoids and, if necessary, mineralocorticoids, while also reducing elevated adrenal androgens. CASE REPORT We present the case of a 42-year-old woman with CAH who discontinued therapy during adolescence and was admitted to hospital with fatigue, nausea, and severe abdominal pain. A CT scan showed an extreme enlargement of the adrenal glands. Laboratory tests revealed elevated levels of 17-hydroxyprogesterone and other adrenal androgens, along with normal plasma metanephrine levels. Decreased morning cortisol levels suggested partial adrenal insufficiency requiring glucocorticoid replacement therapy. Due to the development of several serious complications and clinical deterioration, the multidisciplinary team recommended bilateral removal of masses measuring 300×250×200 mm on the right side and 250×200×200 mm on the left side. Histological and immunochemical examination confirmed the presence of giant myelolipomas with adrenal cortex hyperplasia. CONCLUSIONS Adrenal tumors, particularly myelolipomas, have a higher prevalence in patients with CAH. Our case report provides further evidence of the suspected link between non-compliant CAH therapy and the development of myelolipomas, along with promotion of their pronounced growth.

Muscle Dysfunction and Functional Status in COVID-19 Patients during Illness and after Hospital Discharge.

BACKGROUND: COVID-19 pneumonia is associated with SIRS and hypercatabolism. The aim of this study was to determine muscle loss during the acute phase of COVID-19 pneumonia and evaluate long-term sequelae in discharged patients. METHODS: A total of 16 patients with COVID-19 pneumonia and respiratory insufficiency were included in the study. Selected parameters (weight, BMI, LBM = lean body mass, albumin, CRP, NLR = neutrophil-to-lymphocyte ratio, ultrasound measured thickness of rectus femoris muscle = US RF and rectus femoris + vastus intermedius = US RF + VI, handgrip strength, quality of life = EQ-5D questionnaire, and activities of daily living = Barthel's ADLs) were recorded on admission, discharge, and 1, 3, and 6 months after discharge. RESULTS: The most significant changes were between hospital admission and discharge: US RF and RF + VI (-1.28 ± 1.97 mm, p = 0.046; -1.76 ± 2.94 mm, p = 0.05), EQ-5D score (14.6 ± 19.2, p = 0.02), and ADLs (17.1 ± 22.6; p = 0.02). There was a significant positive correlation between US RF + VI and handgrip strength (p = 0.014) and a negative correlation between weight and Barthel index (p = 0.012). There was an association between muscle function with an EQ-5D score and ADLs during outpatient check-ups, most noticeably between handgrip strength, US RF+VI, and ADLs (p = 0.08; p = 0.1, respectively). Conclusions: In patients with COVID-19 pneumonia, there is a significant reduction of health-related quality of life, impaired even 6 months after hospital discharge, influenced mainly by muscle loss. During the hospital stay, there was a significant muscle mass reduction. Ultrasound measurement of thigh muscle thickness may be a useful method to monitor muscle loss.

Internal comorbidities and complications of multiple sclerosis therapy - don't be caught off guard!

Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system, mainly affecting young adults. Factors positively influencing its course include early antiinflammatory treatment and the influencing of other comorbidities. The most common comorbidities occurring in MS patients with a higher frequency than in the general population are neurological, psychiatric, cardiovascular, metabolic and autoimmune. Just as comorbidity compensation affects the course of MS, in some cases, MS decompensation is associated with a worse course of associated diseases. Due to common risk factors and partially shared immunopathogenesis, treatment covering multiple conditions can be used, especially for some autoimmune diseases. On the other hand, some drugs may potentiate the development of other autoimmunity or disorder. A special topic is the side effects and complications of treatment (especially infections and malignancies) of disease-modifying therapies used in patients with MS. However, the potential treatment discontinuation carries significant risks and should always be discussed with the MS specialist. Therefore, close interdisciplinary collaboration is crucial.

Differential diagnosis of hyponatremia and hypernatremia.

Dysnatremias are among the most common mineral imbalances encountered in clinical practice. Both hyponatremia and hypernatremia are associated with increased morbiditidy and mortality and represent negative prognostic factors regardless of their cause. Serum osmolality, extracellular fluid volume and sodium urine concentration are important parameters for evaluation the cause and differential diagnosis. The rate of onset of ionic disorder and severity of clinical symptoms are essential. While acute disorders with symptoms are treated immediately, in chronic disorders, thorough diagnostic evaluation and a careful approach to their correction are necessary. Especially with rapid substitution of chronic hyponatremia, there is a risk of osmotic demyelination syndrome. Therefore, a slow correction of the serum sodium level with frequent mineralogram checks is required.

Post-intensive care syndrome.

Thanks to advances in intensive care, number of patients discharged from intensive care units is increasing. Along with that, there is also growing interest in long-term outcomes monitoring. A large proportion of patients suffers from cognitive, psychiatric and physical disabilities after discharge from intensive care unit. A set of these disabilities is called Post-intensive care syndrome (PICS). Along with patients, also their relatives could be affected, especially by mental disorders (PICS-Family, PICS-F). Long term or permanent consequences can lead to the loss of self-sufficiency, reduced quality of life, frequent rehospitalizations and numerous other health and economical consequences. A set of preventive procedures, applied during ICU hospitalization, is essential in preventing the development of PICS. In particular, prevention of extensive sedation, delirium management and early mobilization and thorough rehabilitation is needed. A much discussed topic is further outpatient monitoring of discharged patients in various post-intensive care facilities.