ABSTRACT
Carpal tunnel syndrome (CTS) is the most commonly occurring type of entrapment neuropathy in the world. Several conditions may contribute to the development of CTS, such as obesity, repetitive wrist movements, pregnancy, genetic predisposition and rheumatoid arthritis (RA) inflammation. CTS is characterized by a wide range of pathophysiological factors, including increased pressure, mechanical trauma and ischemic damage to the median nerve that runs through the wrist tunnel. In the present narrative literature review, the way rheumatic diseases (RDs) contribute to CTS occurrence is investigated. The epidemiological, clinical, paraclinical and pathogenesis aspects of the relationship are examined. CTS is the most common neurological finding in RA, and incidences of RA, psoriatic arthritis and CTS are closely related. The association of CTS with systemic lupus erythematosus, Sjögren's syndrome, Behcet's disease and systemic sclerosis is weaker. In these cases, the prevalence of CTS is similar to that in the general population. As the occurrence of CTS is increasing, understanding the common mechanism and making an early diagnosis are required to limit pain and costs. When patients with RD present with symptoms such as wrist pain, tingling sensations or numbness in their fingers, CTS should be suspected. This suspicion should not be interpreted in terms of RD. To accurately evaluate patients with RD, a detailed electrophysiological examination should be included in the evaluation process. A diagnostic algorithm should include neuromuscular ultrasound or magnetic resonance imaging for patients with RD.
ABSTRACT
Liquid biopsies can accurately identify molecular alterations in patients with colorectal cancer with high concordance with tissue analysis and shorter turnaround times. Circulating tumor (ct) DNA analysis can be used for diagnosing and monitoring tumor evolution in patients with metastatic colorectal cancer who are treated with EGFR inhibitors. In this article, we reported three clinical cases to illustrate the relevance of RAS mutations identified in ctDNA samples of patients with wild-type metastatic colorectal cancer who received an EGFR inhibitor plus chemotherapy as first-line treatment. The identification of RAS mutations in these patients is one of the most frequently identified mechanisms of acquired resistance. However, detecting a KRAS mutation via liquid biopsy can be caused by inter-tumor heterogeneity or it can be a false positive due to clonal hematopoiesis. More research is needed to determine whether ctDNA monitoring may help guide therapy options in metastatic colorectal cancer patients. We performed a literature review to assess the technologies that are used for analysis of RAS mutations on ctDNA, the degree of agreement between tissue and plasma and the importance of tissue/plasma discordant cases.
ABSTRACT
Pterygium Colli or "palmate neck" is a congenital malformation that is most often part of a polimalformative syndrome. This deformity is a source of aesthetic and social embarrassment. Its correction is surgical. We present the case of a pterygium colli in a patient with Noonan syndrome. He had a significant excess of skin with posterior skin laxity, causing significant social discomfort and imposing a vicious attitude, the head bent forward. We performed a posterolateral resection of this excess by resecting two posterior triangular flaps with a resulting t-shaped scar. The results were satisfactory; the excess skin was almost completely resorbed with minimal scarring. However, this technique did not correct the low lateral hairline implantation, and there were still two lateral flaps for which the patient did not wish to have a repeat surgery.
ABSTRACT
The use of blood liquid biopsy is increasingly being incorporated into the clinical setting of gastrointestinal cancers care. Clonal hematopoiesis (CH) occurs naturally as a result of the accumulation of somatic mutations and the clonal proliferation of hematopoietic stem cells with normal aging. The identification of CH-mutations has been described as a source of biological noise in blood liquid biopsy. Incorrect interpretation of CH events as cancer related can have a direct impact on cancer diagnosis and treatment. This review summarizes the current understanding of CH as a form of biological noise in blood liquid biopsy and the reported clinical significance of CH in patients with GI cancers.