Perinatal outcomes of the antenatally diagnosed omphalocele cases: a single tertiary center experience

Objectives: To evaluate the perinatal outcomes of antenatally diagnosed omphalocele cases. Material and methods: This was a retrospective study conducted between July 2014 and February 2020 at the prenatal diagnosis center of a university clinic. Gestational week of diagnosis, associated anomalies, karyotype analysis results, complications during pregnancy, termination/delivery characteristics, and postnatal results were evaluated. Results: The analysis was performed on 58 patients. The median diagnosis time was 14.5 weeks of gestation. Thirty-three cases (57%) were defined in the first trimester. 33 (57%) of 58 patients had one or more concomitant anomalies, while 25 patients (43%) had isolated omphalocele. The most common associated anomaly was a cardiac anomaly which was observed in 17 fetuses (30% of all omphalocele cases). Karyotype analysis was performed in forty-five patients (41 in the prenatal period, 4 in the postnatal period). A normal karyotype was detected in 27 cases (60%). Trisomy 18 was the most common chromosomal anomaly (n = 15, 33.3%). Thirty of 58 patients (52%) requested termination of pregnancy (TOP) in the early pregnancy period. Thirteen of the cases died in-utero (22%). Fifteen pregnancies resulted in live births (26%), of those eight were lost in the first year of life (six of them had additional anomalies, while two of them had isolated omphalocele but the omphalocele pouch was containing the liver in those two babies). Conclusions: Most of the cases with an omphalocele can be diagnosed in the first trimester. Cardiac anomalies were the most common associated anomalies, while trisomy 18 is the most common chromosomal anomaly. Thus, earlier and effective counseling can be made about the prognosis of pregnancy

Delayed diagnosis of chronic pancreatitis with cystic fibrosis and pancreas divisium

The incidence of pancreatitis in children and adolescents has increased in recent years. The etiology of pancreatitis is more diverse in children compared to adults. Pancreatitis may present as acute pancreatitis, recurrent acute pancreatitis or chronic relapsing pancreatitis. The majority of children with chronic pancreatitis had identifiable genetic risk factors associated with pancreatitis or congenital anomalies of the pancreaticobiliary system. Pancreatitis is a known complication of cystic fibrosis (CF) and may be the first manifestation of the disease in some cases. We report a case of late-diagnosed CF presenting with chronic pancreatitis and pancreas divisum. [Med-Science 2017; 6(3.000): 557-9

The Comparison of DNA Extraction Techniques in Human Bone and Tooth Samples Exposed to High Heat

In the identification of forensic cases, it is critical to obtain information to identify the victim’s identity from burnt bone and tooth remains. When bone and tooth are burned, both their physical and chemical properties change significantly, which prevents anthropological evaluations and successful DNA profiling for identification purposes. Heat causes difficulties in the identification techniques in which bones and teeth are used, depending on the degree of heat exposure. For this reason, with the changes occurring in bone and tooth during combustion, it is necessary to evaluate the results of observation and analysis, and to be used the information obtained in a certain order. It is very difficult to extract DNA from the samples obtained from fire, explosion, motor vehicle and aircraft accidents and other traumatic events by traditional methods. The only biological material available to determine the typing and the identification of missing persons or unknown remains in different situations, such as mass fatality events, wars or socio-political events, is often only human remains. Effective DNA extraction procedures are critical steps in successful DNA analysis of skeletal remains. Due to variations in DNA and heterogeneity within the bone, unfortunately, the only reliable method for obtaining DNA from overly degraded specimens such as burnt bones and teeth in the literature, is still not available. In the study, present extraction methods are compared and as a result it was suggested that phenol-chloroform and Qiagen DNA Mini Kit could be used in routine with a newly developed modified procedure in order to increase efficiency and efficiency in forensic genetic identification