Publications by authors named "Sofia Zoullas"

Chanarin-Dorfman syndrome is an autosomal recessively inherited disorder characterized by ichthyosis, sensorineural hearing loss, and hepatic dysfunction. We report on a 60-year-old female of Venezuelan descent who presented with congenital ichthyosis, progressive sensorineural hearing loss, and liver cirrhosis. We identify a heterozygous copy number deletion involving exon 1 and another heterozygous deletion involving exon 3 of the ABHD5 gene.

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Background: Recently, increased tissue levels of AIF-1 have been shown in experimental colitis, supporting its role in intestinal inflammation. Therefore, we studied the levels of AIF-1 in Crohn’s disease (CD). Methods: This study included 33 patients with CD (14 men and 19 women) who participated in the PREDICROHN project, a prospective multicenter study of the Spanish Group of Inflammatory bowel disease (GETECCU).

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Article Synopsis
  • Inflammatory bowel diseases (IBD), such as ulcerative colitis and Crohn's disease, lead to chronic inflammation, resulting in symptoms like diarrhea, malnutrition, and weight loss, potentially linked to disruptions in the growth hormone-insulin-like growth factor-1 (GH-IGF-1) axis.
  • A study showed that long-term adalimumab treatment in adult Crohn’s disease patients decreased serum IGF-1 levels without affecting the binding protein levels, leading to further investigation of IGF-1's effects.
  • Preclinical tests on rats with induced colitis demonstrated that IGF-1 treatment improved various biochemical parameters, preserved colon health, and restored the mucosal barrier while inhibiting apoptosis markers,
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Objectives: Chronic venous disease (CVeD) is a multifactorial and debilitating condition that has a high prevalence in Western countries and an important associated socioeconomic burden. Varicose veins (VVs) are the most common manifestations of CVeD. Pathologically, many morphological and functional changes have been described in VVs, which most notably affect venous wall integrity.

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Actinomycin D (ActD) is an FDA-approved NCI oncology drug that specifically targets and downregulates stem cell transcription factors, which leads to a depletion of stem cells within the tumor bulk. Recently, our research group demonstrated the importance of IRS-4 in the development of liver cancer. In this study, we evaluated the protective effects of IRS-4 against ActD.

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Objective: To evaluate the impact of changes to neonatal early-onset sepsis (EOS) guidelines on in-hospital breastfeeding.

Study Design: Asymptomatic neonates admitted to the Neonatal Intensive Care Unit (NICU) for sepsis evaluations over a 2-year period were identified. A retrospective chart review was conducted as part of a larger quality initiative on antibiotic stewardship.

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New evidence suggests that insulin receptor substrate 4 (IRS-4) may play an important role in the promotion of tumoral growth. In this investigation, we have evaluated the role of IRS-4 in a pilot study performed on patients with liver cancer. We used immunohistochemistry to examine IRS-4 expression in biopsies of tumoral tissue from a cohort of 31 patient suffering of hepatocellular carcinoma (HCC).

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