Search Results

You are looking at 1 - 4 of 4 items for

  • Author: Mariana Cornelia Tilinca x
Clear All Modify Search
Open access

Dalila Maier, Adrian Florea, Mariana Cornelia Tilinca, Ancuța Zazgyva and Rodica Cosgarea

Abstract

Introduction: Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes. This case series presents clinical and paraclinical particularities of 3 Romanian ARCI patients with NIPAL4 mutation c.527C>A.

Material and methods: Three Caucasian patients were investigated, two sisters and an unrelated female patient, aged 47, 49, and 42 respectively. Skin anomalies were recorded and documented photographically; peripheral blood samples were harvested for DNA extraction and gene analysis. Skin biopsies were used for histological assessment, electron microscopy, and evaluation of in situ transglutaminase 1 activity.

Results: All patients presented with generalized ichthyosis, palmoplantar keratoderma, normal hair shafts, and significant oral manifestations. Natural evolution was relatively stable in all cases, without phenotype changing. Medical treatment with retinoids in patients 1 and 2 resulted in normalisation of the skin condition.

Histological samples showed hyperkeratosis, acanthosisand perivascular inflammatory infiltrates in the dermis. Positive findings of transglutaminase 1 in situ activity excluded TGM1 deficiency. Direct sequencing of amplicons revealed one homozygous mutation in exon 4, a c.527C>A missense mutation.

Conclusions: This is the first report of the hotspot mutation NIPAL4 c.527C>A in Romanian autosomal recessive congenital ichthyosis patients. The phenotype was similar to that reported in the literature, while transglutaminase 1 activity in situ assay detected differences in enzyme distribution between patients bearing the same mutation but different phenotypes. Based on the current data, NIPAL4 mutations are more frequent than TGM1 mutations in Romanian patients with autosomal recessive congenital ichthyosis.

Open access

Enikő Nemes-Nagy, Robert Gabriel Tripon, Sándor Pál and Mariana Cornelia Tilinca

Abstract

The association of multiple autoimmune diseases may represent the main focus of physicians treating patients with such pathology presenting no comorbidities of different etiology. However, autoimmune diseases and side effects of drugs may lead to development of silent health-threatening diseases that should be identified promptly. We present the case of an elderly, obese, Caucasian female patient suffering of autoimmune thyroiditis, rheumatoid arthritis, and psoriasis, who developed arterial hypertension and insulin-treated secondary diabetes mellitus (due to long-term oral corticotherapy) with microvascular end-organ changes. Retinal imaging for capillary anomalies identified mild non-proliferative diabetic retinopathy with apparent diabetic macular edema and hypertensive retinopathy. Laboratory investigations looking for further vascular risk factors revealed zinc deficiency, elevated serum homocysteine levels, and constantly high C-reactive protein concentration. Attention should be payed to the proper investigation of patients with autoimmune diseases, targeting the early diagnosis of microvasculopathies due to autoimmune diseases or possible medication side effects, in order to prevent end-organ damage.

Open access

Mariana Cornelia Tilinca, Eniko Csilla Barabas-Hajdu, Gizella Tusa Ferencz and Eniko Nemes-Nagy

Open access

Enikő Nemes-Nagy, Zita Fazakas, Victor Balogh-Sămărghițan, Zsuzsánna Simon-Szabó, Lóránd Dénes, Cosmina Cristina Uzun, Márta Andrea Fodor, Mariana Cornelia Tilinca, Deborah Reid and Trefor Higgins

Abstract

This parameter’s results accuracy has a special importance in the management of diabetic patients since targets for optimal glycemic control are established using HbA1c values. Several error sources can influence the obtained value, some of them can be counteracted (ex. pipetting errors, storage), and others should be taken into consideration at the interpretation of the result (ex. presence of hemoglobin variants). The aim of this study was to compare four chromatographic methods regarding the costs and the influence of certain error sources on the accuracy of the result. Materials and methods: Samples and controls were analyzed using Variant I, Micromat II and In2it (Bio-Rad) systems, and the BIOMIDI reagent kit for HbA1c measurement. Results: Positive correlation could be observed comparing the results obtained using different methods, except the patients presenting elevated HbF. Pipetting errors modify the results up to 5% in case of Variant I, and up to 10% in case of Micromat II in the tested range. One day of improper storage at room temperature causes 3% deviation from the actual value using the Variant I analyzer and 5% in case of Micromat II and In2it equipment. As a conclusion, depending on the number of samples, automated chromatographic analyzers are the most appropriate equipments for the determination of HbA1c.