Zeitschrift für klinische Fallberichte

Introduction: The effectiveness and safety of romiplostim were evaluated by immune thrombocytopenia (ITP) phase (newly diagnosed/ persistent/chronic) at romiplostim initiation.

Methods: This is a post hoc analysis of a prospective, Japanese, multicentre, observational study in adults with ITP who received ≥ 1 dose of romiplostim. Follow-up data were collected for ≤ 2 years. Outcomes included overall platelet response (≥ 1 platelet count ≥ 50 × 109/L at 2–24 weeks after romiplostim initiation) or durable platelet response (≥ 75% of measurements ≥ 50 × 109/L at 14–24 weeks) and adverse drug reactions (ADRs), evaluated by ITP phase.

Results: Data from 96 patients were analysed (newly diagnosed, n =18; persistent, n=25; chronic, n=53). During the 2- to 24-week follow-up, overall platelet response was achieved in 100% (95% confidence interval: 81.5–100), 100% (86.3–100), and 96.2% (87.0–99.5) of patients with newly diagnosed, persistent, or chronic ITP, respectively, and platelet responses were durable in 88.2% (63.6–98.5), 65.0% (40.8–84.6), and 69.4% (54.6–81.7) of patients. During the 2-year follow-up, ADRs occurred in 24.0–35.8% of patients across phases. Two patients with chronic ITP experienced bone marrow ADRs; no thrombotic ADRs occurred.

Conclusion: Romiplostim was effective and well tolerated in patients with newly diagnosed, persistent, or chronic ITP in routine clinical practice.

Extraskeletal Myxoid Chondrosarcoma (EMC) is a rare Soft Tissue Sarcoma (STS) highly correlated with the NR4A3 gene rearrangement. This gene rearrangement has not been found in other tumors. However, its function is not yet fully known in cancer biology. Multiple prospective cohort studies show the population frequency of EMC as approximately 0.0001%. Cases of primary skeletal EMC’s have been reported, but the NR4A3 gene rearrangement is less correlated with it as compared to the soft tissue variant. EMC's tend to arise in the soft tissue of the proximal lower extremities and limb girdle in the fifth to sixth decade of life with a male predominance. Cases of EMC arising in the peripheral extremities are rarer still. And pathologic fractures secondary to chondrosarcoma’s are also highly unusual. The following patient presents with a primary tumour showing bland histology, arising in an infrequent location and in an atypical age group, primary to an unlikely tissue and associated with a rare presentation. Its only defining characteristic is the NR4A3 gene rearrangement. When does a rare gene rearrangement retain its specificity and serve as sufficient evidence to be diagnostic?

Introduction: Bronchiectasis is defined as an irreversible abnormal dilatation of the bronchial tree and is divided into bronchiectasis secondary to cystic fibrosis and bronchiectasis not associated with cystic fibrosis, presents with recurrent chest infections, productive cough for more than 8 weeks, production of large amounts of sputum and hemoptysis, as in many other lung diseases, there are repeated exacerbations of symptoms. High-resolution computed tomography (CT) of the chest is the most accurate modality for diagnosis.

Objective: To identify the main radiological findings related to bronchiectasis described in the literature. Methods: This is a literature review study by collecting data from bibliographic references available in the U.S. National Library of Medicine (PubMed) database. The inclusion criteria established for the selection of articles were articles that focused on the topic of bronchiectasis, radiological findings of this pathology, its causes and classification, published from 2018 to 2022. The exclusion criteria were: texts not available in full, consensus and guidelines.

Results and Discussion: After the evaluation of the studies and the application of the inclusion and exclusion criteria, 8 articles were separated, which best answered the guiding question; of these articles, 5 address well the diagnostic criteria and definition of bronchiectasis according to radiological findings, and the other studies complement additional findings found in the pathology and radiological characteristics according to its classification.

Conclusion: The present material presented the most current information on the subject, as well as the main radiological findings necessary for general practitioners to diagnose and classify bronchiectasis.

The triangle of Guillain and Mollaret, also known as the dentatorubro-olivar pathway is divided into nuclei, these being the red, inferior olivary and contralateral dentate nuclei. In general, among the most common diseases associated with this triangle, there are three types of important changes. Hypertrophic olivar degeneration, contralateral cerebellar atrophy and Holmes tremor. Degenerative Olivary Hypertrophy (DOH) is a rare entity, reported at any age and affecting both sexes. This study is a literature review carried out in September and October 2022, by means of an electronic search in the following databases: PubMed, SciELO and Periódicos CAPES. The descriptors used were Triangle of Guillain, hypertrophic olivary degeneration and radiological changes. Scientific articles from the last 7 years with the main radiological findings of this pathology were searched. The radiological finding of DOH is characterized as a T2-hyperintense lesion in the anterolateral portion of the bulb, in the region of the oliva, associated with increased volume of this structure, which does not present contrast uptake. Therefore, in view of the reports of radiological manifestations related to hypertrophic olivary degeneration, it is important to recognize the characteristic radiological signs of this pathology and encourage further studies to elucidate the subject under consideration.

Spinal Ependymomas are the most common intramedullary neoplasm in adults, comprising 60% of all glial spinal cord tumors. They are the second most common intramedullary neoplasm in the pediatric population, accounting for 30% of pediatric intramedullary spinal neoplasms. Peak incidence is in the fourth decade, with 39 years being the median age at presentation. Males are more affected than females. There is an increased coincidence with neurofibromatosis type II.

Pyoderma gangrenous is a rare, distinctive cutaneous ulceration which is usually idiopathic but may be associated with many systemic diseases. Currently many aspects of the underlying pathophysiology are not well understood and the etiology still remains unknown. The multiple clinical variants (classic ulcerative, pustular, bullous and superficial granulomatous) makes the diagnosis even more difficult and treating the condition is challenging as there is no clinically accepted gold standard available. Here we present the case of an unusual association of Pyoderma gangrenous and cyclical Cushing’s syndrome in a 35 year old morbidly obese female patient admitted with symptoms of breathing difficulty and bilateral all limb blisters. Her past medication history included Tab. Hydrocortisone 10 mg OD and Tab. Ketoconazole 200 mg BD. On laboratory investigation abnormal parameters found were-Haemoglobin (6.5 g/dl), vitamin D (<8.00 ng/ml), ionized calcium (3.6 mg/dl), plasma urea (53 mg/dl), AST (69 U/L), GGT (118 U/L) and serum cortisol (1.43 mcg/dl). Antibiotic therapy with injection piperacillin/tazobactam 4.5 g 3 times a day was continued for 13 days and was changed to injection meropenem 1 g 3 times a day for the next 6 days. The patient was administered with injection hydrocortisone 50 mg 4 times a day, Colchicine 0.5 g 2 times a day, Ketoconazole 200 mg 2 times a day and injection enoxaparin 60 mg/0.6 ml once daily throughout the course of stay in hospital.