Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome.

INTRODUCTION: Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS. METHODS: Case report. RESULTS: This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid. CONCLUSION: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.

This case report highlights the presence of focal choroidal excavation and unilateral macular atrophy in a patient with Alagille syndrome. The genetic analysis identified a pathogenic variant in the JAG1 gene.

Persistent serological activity in primary Sjögren's syndrome.

To assess the presence of persistent serological activity and its association with clinical outcomes in primary Sjögren's syndrome. Clinical charts of 275 patients were reviewed retrospectively. Persistent serological activity was defined as an increase IgG ≥ 1.6 mg/dL or globulins > 3.7 g/dL or diminished C3 < 52 mg/dL or C4 < 12 mg/dL at least during two consecutive visits during a year (index period). The ClinESSDAI at the index period and the cumulative ClinESSDAI and the SSDDI at the last medical appointment were scored. A total of 159 patients with complete serological data were included mostly women and median disease duration of 10.2 years. Persistent serological activity was identified in 85 patients (53.1%). Only 13 patients changed their status to serological inactivity though the follow-up. Comparison of patients with (n = 85) versus without persistent serological activity (n = 74) showed that the first group had a higher frequency of impaired non-stimulated salivary flow, anti-La/SSB antibody, and RF, as well as higher ClinESSDAI scores. The most affected domains were the constitutional, glandular, cutaneous, renal, and hematological domains. On logistic regression analysis, the RF (OR 6.4, 95% CI 1.8-22, p = 0.003), the renal (OR 12.8, 95% CI 1.7-92, p = 0.01), and the hematological involvement (OR 4.7, 95% CI 1.6-13.4, p = 0.004) remained associated. Half of the patients studied had persistent serological activity, being this status constant through the follow-up. Persistent serological activity was associated with positive RF and higher ESSDAI scores due to hematological and renal activity. Scoring serological activity is an important issue in SS patients.

Mast Cell, the Neglected Member of the Tumor Microenvironment: Role in Breast Cancer.

Mast cells are unique tissue-resident immune cells that secrete a diverse array of biologically active compounds that can stimulate, modulate, or suppress the immune response. Although mounting evidence supports that mast cells are consistently infiltrating tumors, their role as either a driving or an opposite force for cancer progression is still controversial. Particularly, in breast cancer, their function is still under discussion. While some studies have shown a protective role, recent evidence indicates that mast cells enhance blood and lymphatic vessel formation. Interestingly, one of the most important components of the mast cell cargo, the serine protease tryptase, is a potent angiogenic factor, and elevated serum tryptase levels correlate with bad prognosis in breast cancer patients. Likewise, histamine is known to induce tumor cell proliferation and tumor growth. In agreement, mast cell depletion reduces the size of mammary tumors and metastasis in murine models that spontaneously develop breast cancer. In this review, we will discuss the evidence supporting protumoral and antitumoral roles of mast cells, emphasizing recent findings placing mast cells as important drivers of tumor progression, as well as the potential use of these cells or their mediators as therapeutic targets.