Upper and lower eyelid contour and positional changes after deep skin grafts in ablepharon macrostomia syndrome.

Ablepharon macrostomia syndrome is a rare congenital disorder caused by autosomal-dominant mutations. This condition is characterized by redundant skin, low-set ears, macrostomia, ambiguous genitalia, and underdevelopment of the both upper and lower eyelids. The shortening of the anterior lamella, septum and levator aponeurosis lead to a severe corneal exposure within the first hours of life.

Endoplasmic reticulum stress in the salivary glands of patients with primary Sjögren's syndrome, associated Sjögren's syndrome, and non-Sjögren's sicca syndrome: a comparative analysis and the influence of chloroquine.

Background: Endoplasmic reticulum stress (ERS) and the unfolded protein response (UPR) are adaptive mechanisms for conditions of high protein demand, marked by an accumulation of misfolded proteins in the endoplasmic reticulum (ER). Rheumatic autoimmune diseases (RAD) are known to be associated with chronic inflammation and an ERS state. However, the activation of UPR signaling pathways is not completely understood in Sjögren's disease (SD).

[Erdheim Chester Histiocytosis as a Diagnostic Challenge in a Systemic Presentation: A Case Report].

Histiocytosis are caused by pathogenic myeloid cells, and can be classified as Langerhans cell histiocytosis (LCH) and non-LCH. Erdheim-Chester disease (ECD) is a non-LCH, characterized by multi-organ involvement, typical imaging findings, and confirmatory histological studies. A case with multi-organ involvement and histological confirmation is presented.

New Horizons of Biomarkers in Metastatic Thyroid Cancer.

This review focuses on the latest advancements in using biomarkers to diagnose, predict outcomes, and guide the treatment of different types of thyroid cancer, such as anaplastic, papillary, medullary, and follicular thyroid carcinoma. We highlight the key role of both traditional and new biomarkers in improving the treatment of these cancers. For anaplastic thyroid cancer, biomarkers are crucial for detecting distant metastases and making treatment decisions.