A rare case report: Van der Woude Syndrome [Nadir bir olgu sunumu: Van der Woude Sendromu]

Van der Woude syndrome is a congenital abnormality characterized by pits of the lower lip, cleft lip and/or palate. We report a female newborn infant in the first day of life who was diagnosed with Van der Woude syndrome having cleft lip and pits of the lower lip. Her mother also had pits of the lower lip.. Copyright © 2013 by Türkiye Klinikleri

Reference intervals of ?-glycosidase, ß-glycosidase, and ?-galactosidase in dried blood spot in a Turkish newborn population

PubMed ID: 23661235Inherited lysosomal storage diseases (LSDs) are rare, and diagnosis is often delayed for 7-10 years. Since the therapies have become available for a limited number of LSDs, (Fabry, Gaucher, Pompe, and MPS-1), early diagnosis of treatable LSDs can be lifesaving or ameliorating and allows timely treatment before irreversible damage occurs. Recently, the use of dried blood spot test (DBS) for newborn screening of LSDs has been proposed for newborn screening tests. They are noninvasive, sensitive, and specific assays with the further advantage of a fast turnaround time compared to measurement in leukocyte and/or fibroblast culture. We aimed to determine the reference intervals for lysosomal enzyme activities of newborn babies in our population and to investigate the effect of gestational week on enzyme activity. One hundred thirty healthy newborn babies (70 girls, 60 boys) were included into the study. ?-Glycosidase, ß-glycosidase, and ?-galactosidase activities in DBS samples of newborns were determined fluorometrically. Reference intervals were calculated using Dixon's rule and percentiles of 2.5-97.5. Cutoff limits (5 %) for ?-glycosidase, ß-glycosidase, and ?-galactosidase activities were 0.57, 0.92, and 2.18, respectively. ?-Galactosidase activity was higher in girls compared to boys (p<0.05). Interestingly, ?-glycosidase and ß-glycosidase activities of newborns who were delivered before 38 weeks were significantly lower than those who were delivered at 39-40 weeks. Conclusion It is of utmost importance to define the reference intervals for lysosomal enzyme activities as well as cutoff limits for newborn babies with regard to gestational age and sex. More studies to clarify the reason for the change in enzyme activity by gestational week will be required.GenzymeAcknowledgments We are grateful to Genzyme Corp. for the financial support and to Sundus Ekinci for the technical support in performing the enzymatic studies. -

A newborn successfully treated with cardioversion for congenital atrial flutter: Case report [Konjenital Atriyal Flatter Nedeniyle Kardiyoversiyon Uygulanarak Başaryla Tedavi Edilen Yenidogan Olgusu]

Fetal and neonatal arrhytmias may demonstrate life threatening features. Atrioven tricular re entry mechanism is thought to be effective in the development of these rhytm disorders that present as either increased or decreased heart rate. Benign atrial extrasistoles are among the most common arrhytmias in this age group; in whom supraventricular tachycardia is seen as a frequent cause of tachycardia. Atrial flutter is a very rare cause of fetal and neonatal tachycardia. These arrhythmias due to different etiologies have a wide range of clinical symptoms ranging from feeding difficulties to heart failure that necessitates urgent treatment. We hereby; present a term newborn without any cardiac malformation, successfully treated with cardioversion for congenital atrial flutter. Copyright © 2012 by Türkiye Klinikleri

A newborn successfully treated with cardioversion for congenital atrial flutter: Case report [Konjenital Atriyal Flatter Nedeniyle Kardiyoversiyon Uygulanarak Başaryla Tedavi Edilen Yenidogan Olgusu]

Fetal and neonatal arrhytmias may demonstrate life threatening features. Atrioven tricular re entry mechanism is thought to be effective in the development of these rhytm disorders that present as either increased or decreased heart rate. Benign atrial extrasistoles are among the most common arrhytmias in this age group; in whom supraventricular tachycardia is seen as a frequent cause of tachycardia. Atrial flutter is a very rare cause of fetal and neonatal tachycardia. These arrhythmias due to different etiologies have a wide range of clinical symptoms ranging from feeding difficulties to heart failure that necessitates urgent treatment. We hereby; present a term newborn without any cardiac malformation, successfully treated with cardioversion for congenital atrial flutter. Copyright © 2012 by Türkiye Klinikleri