Metabolik yolaktaki bir enzim veya kofaktörün eksikliği ya da yokluğu sonucu özel bir metabolitin oluşamaması ya da birikimi Doğumsal Metabolik Hastalıklar (DMH)'a neden olmaktadır. Doğumda genellikle sağlıklı olan bu bebekler, doğumdan sonra saatler ya da günler içinde aktivitede azalma, beslenememe, solunum güçlüğü, bilinç değişikliği veya nöbet gibi semptomlarla başvururlar. Bu semptomlar DMH'a özgü olmadığından erken tanı ve tedavi ile komplikasyonların ve ölümlerin önlenmesinde klinik şüphe varlığı önemlidir. Bu çalışmada, yenidoğan döneminde tanı alan DMH'a sahip hastaların klinik ve biyokimyasal özelliklerinin değerlendirilmesi amaçlandı.

No abstract

Craniofrontonasal syndrome (CFNS) is a rare X-linked genetic disorder which is characterized by coronal synostosis, widely spaced eyes, a central nasal groove, and various skeletal anomalies. Mutations in the <i>EFNB1</i> gene in Xq13.1 are responsible for familial and sporadic cases. In the present study, we aimed to evaluate the clinical characteristics and molecular results of 4 patients with CFNS. Genomic DNA was extracted from the peripheral blood lymphocytes of all patients and their parents, and Sanger sequencing of the <i>EFNB1</i> gene was performed. A novel <i>EFNB1</i> gene mutation (c.65delG; p.Cys22SerfsTer24) was detected in a newborn who had only dysmorphic facial features and bicornuate uterus. The other 3 patients (2 familial cases and 1 sporadic case) shared the same mutation (c.196C&#x3e;T; p.R66X). However, the clinical features of these patients were highly variable. Additionally, central (meso-axial) polydactyly and deep palmar creases were detected, which have not been previously reported. CFNS has a wide clinical spectrum, but there is no clear genotype-phenotype correlation. However, central (meso-axial) polydactyly and deep palmar creases may be part of the clinical spectrum seen in CFNS. In addition, our findings expand the mutational spectrum in patients with CFNS.

Objective: We aimed to compare the clinical features, laboratory findings and primary outcomes of the neonates with RSV and neonates with SARS-CoV-2 infections. Materials and methods: This nested case-control study included the neonates who were administered in the neonatal intensive care unit (NICU) of the University of Health Sciences, Dr Behc¸et Uz Children's Hospital during the period of 01 March-30 April 2020. Respiratory PCR samples and COVID-19 samples were taken simultaneously. Only RSV positive and COVID-19 positive infants were compared. Demographic, epidemiological and clinical data were obtained from hospital electronic information system medical records. The chest radiographs at the admission were evaluated by using standard definitions for normal chest Xray, atelectasis, bronchopenumonia, peribronchial thickening and hyperinflation in various lung volumes. Results: A total of 30 infants were enrolled in the study and RSV was identified in 20/30 infants (66%). No significant differences were observed between the two groups in terms of general characteristics. Comparing to the infants with Covid-19 infections, infants with RSV infections had significantly higher rates of having oxygen support (p ¼ .03). Total NICU duration time was 6.7 ± 1.6 days in COVID positive group and 11.1 ± 5.1 days in the RSV group (p ¼ .01). Infants with COVID-19 had more normal chest X-rays. Infants with RSV-positive had a significantly higher proportion of atelectasis than those with COVID-19 infants (p ¼ .04). Discussion: This is the first study that compares RSV infection and COVID-19 infection. RSV infection can be more serious in the neonatal period. In cases with suspected COVID-19 infection, it should be kept in mind if atelectasis is seen on chest radiography. Respiratory failure may be more serious in RSV positive infants and RSV infection may be more dangerous for the neonatal period.