Prenatal Diagnosis Of Organic Acidemias At A Tertiary Center

The aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for the PND of OAs. Median maternal age, parity, gestational week of IPNDT, prenatal test indications, OA types, method of IPNDT, IPNDT results and gestational outcomes were evaluated. Targeted mutation analysis was performed in fetal DNA for the specific mutations by using polymerase chain reaction (PCR) and direct Sanger sequencing. The diagnosis was confirmed by genetic targeted mutation analysis after birth. Median maternal age, parity and gestational week of IPNDT values were 30 (range 21-35), one (range 0-4) and 11.5 (range 11-17), respectively. Indications for IPNDT were mother being a carrier of the disease for one case (10.0%) and at least one child with OA in the family for nine cases (90.0%). Organic acidemia types investigated were maple syrup urine disease (MSUD), methylmalonic acidemia (MMA) and isovaleric acidemia (IVA) in five (50.0%), three (30.0%) and two (20.0%) patients, respectively. Chorion villus sampling (CVS) was done in seven (70.0%) patients and amniocentesis was performed in three (30.0%) patients. Eight fetuses (80.0%) were found to be healthy and two fetuses (20.0%) were found to be affected (one case with IVA and one case with MMA). The two pregnancies (20.0%) with affected fetuses were terminated. Prenatal diagnosis of OAs is critical. Appropriate prenatal counseling should be given to families with known risk factors.PubMedWoSScopu

An unusual cause of small bowel obstruction: Gossypiboma – case report

<p>Abstract</p> <p>Background</p> <p>The term "gossypiboma" denotes a mass of cotton that is retained in the body following surgery. Gossypiboma is a medico-legal problem especially for surgeons. To the best of our knowledge, the patient presented herein is the second reported patient in whom the exact site of migration of a retained surgical textile material into the intestinal lumen could be demonstrated by preoperative imaging studies.</p> <p>Case presentation</p> <p>A 74-year-old woman presented with symptoms of small bowel obstruction due to incomplete intraluminal migration of a laparotomy towel 3 years after open cholecystectomy and umbilical hernia repair. Plain abdominal radiography did not show any sign of a radio-opaque marker in the abdomen. However, contrast enhanced abdominal computerized tomography revealed a round, well-defined soft-tissue mass with a dense, enhanced wall, containing an internal high-density area with air-bubbles in the mid-abdomen. A fistula between the abscess cavity containing the suspicious mass and gastrointestinal tract was identified by upper gastrointestinal series. The presence of a foreign body was considered. It was surgically removed with a partial small bowel resection followed by anastomosis.</p> <p>Conclusions</p> <p>Although gossypiboma is rarely seen in daily clinical practice, it should be considered in the differential diagnosis of acute mechanical intestinal obstruction in patients who underwent laparotomy previously. The best approach in the prevention of this condition can be achieved by meticulous count of surgical materials in addition to thorough exploration of surgical site at the conclusion of operations and also by routine use of surgical textile materials impregnated with a radio-opaque marker.</p

Brown Adipose Tissue Responds to Cold and Adrenergic Stimulation by Induction of FGF21

Fibroblast growth factor-21 (FGF21) is a pleiotropic protein involved in glucose, lipid metabolism and energy homeostasis, with main tissues of expression being the liver and adipose tissue. Brown adipose tissue (BAT) is responsible for cold-induced thermogenesis in rodents. The role of FGF21 in BAT biology has not been investigated. In the present study, wild-type C57BL/6J mice as well as a brown adipocyte cell line were used to explore the potential role of cold exposure and β3-adrenergic stimulation in the expression of FGF21 in BAT. Our results demonstrate that short-term exposure to cold, as well as β3-adrenergic stimulation, causes a significant induction of FGF21 mRNA levels in BAT, without a concomitant increase in FGF21 plasma levels. This finding opens new routes for the potential use of pharmaceuticals that could induce FGF21 and, hence, activate BAT thermogenesis