Collodion phenotype remains a challenge for neonatologists: A rare case of self-healing collodion baby.

We report a unique case of self-healing collodion baby (CB) that was successfully managed despite the risk of potentially serious complications. Self-healing CB is a rare and distinct outcome of collodion phenotype occurring in approximately 10% of the cases. The outcome depends on the initial assessment and adequate multidisciplinary approach.

Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression.

The majority of Gaucher Disease (GD) cases result from pathologic mutations in the GBA1 gene. A rich mutational spectrum of about 500 identified variants has been recognized. The disease is characterized by phenotypic diversity.

Neonatal lupus erythematosus-a rare syndrome of transient autoimmunity.

Neonatal lupus erythematosus (NLE) is a rare autoimmune disease due to a passive transfer of maternal autoantibodies to the fetus. The clinical spectrum is variable and includes skin lesions, cardiac, hematological, or hepatobiliary disorders. We report an NLE case presenting with skin eruption that was initially considered as tinea.

SSRI-reduced platelet reactivity in non-responding patients with life-long Recurrent Depressive Disorder: Detection and involved mechanisms.

Introduction: Adverse effects with bleeding disorders are often associated with the administration of SSRI in depression, although the exact mechanisms remain contradicting. This study is aimed at detecting and exploring the mechanisms of SSRI-induced changes in platelet reactivity in non-responding patients with Recurrent Depressive Disorder (RDD) and life-long exposure to antidepressants.

Materials And Methods: Thirty-one patients and thirty-one healthy controls were included in the study.

First-line therapy in atypical hemolytic uremic syndrome: consideration on infants with a poor prognosis.

Background: Atypical hemolytic uremic syndrome (aHUS) is a rare and heterogeneous disorder. The first line treatment of aHUS is plasma therapy, but in the past few years, the recommendations have changed greatly with the advent of eculizumab, a humanized monoclonal anti C5-antibody. Although recent recommendations suggest using it as a primary treatment for aHUS, important questions have arisen about the necessity of immediate use of eculizumab in all cases.