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Adrian Maier, Adrian Man, Călin Chibelean, Teodora Cighir, Eniko Nemes-Nagy, Ioana Maier, Ciprian Todea, Oliver Vida and Orsolya Martha

Abstract

Objective: To evaluate the bacteriological features in non-struvite nephrolithiasis and in its associated urinary tract infection, and to establish the relationship between the two pathologies.

Methods: The non-struvite calculi from 132 patients were aseptically extracted by percutaneous nephrolithotomy (PNL). The midstream urine and calculi were bacteriologically and biochemically processed.

Results: Most calculi (78%) were located to renal pelvis, associated with hydronephrosis, the biochemical composition confirming the lack of struvite and revealing the predominance of calcium oxalate. The females presented significantly more colonized calculi (50%) than males (21.9%), with higher bacteriological diversity. There is a significant relation between the presence of colonized calculi and urinary tract infections, 24.2% of calculi and 25.8% of the urine samples presenting positive cultures. In 70.4% of cases, we found the same antibiotic resistance pattern between the pathogens isolated from calculi and urine, thus considering them identical strains. The Enterobacteriaceae represented the most predominant bacteria both from calculi (62.5%) and urine (63.6%), approximatively 30% being resistant to cephalosporins and over 50% resistant to fluoroquinolones, ampicillin and tetracycline. There were 3.8% of cases in which the calculi were colonized but the urine was sterile, the bacteria being sensitive to cephalosporins that are used as prophylaxis.

Conclusions: In all the cases, the same bacterial species was found both in calculi and urine, and 70.4% of them were phenotypically identical. The resistance to the second generation cephalosporins is lower than in the case of other antibiotics, which makes them the most suitable for prophylaxis in PNL.

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.