Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene.

Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B (Parenti-Fraccaro type or ACG1B) and Achondrogenesis type 2 (Langer-Saldino type or ACG2), depending on clinical and radiological findings. Achondrogenesis Type 2 is a lethal skeletal dysplasia that is typically characterized by short arms and legs, a small chest with short ribs, lung hypoplasia, a prominent forehead, a small chin, and an enlarged abdomen that may accompanied by polydramnios and hydrops. This study contributes to the literature by presenting a patient who was admitted to the Level ΙΙΙ Neonatal Intensive Care Unit (NICU), Bursa, Turkey), with extremely short extremities, a small chest, abdominal distention and respiratory distress, who was diagnosed with ACG2. On the COL2A1 gene, genetic analysis with next generation sequencing (NGS), was revealed to have a heterozygous missense variation, c.2546G>A, p.Gly849Asp mutation, which is a different genetic variant that has not been previously described in the literature.

Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association.

VACTERL association includes vertebral anomalies, anal atresia, cardiac defects, tracheao-esophageal fistula, renal anomalies, and limb abnormalities. It is defined by the presence of at least three of these congenital malformations. The incidence has been estimated to be 1/10.000-1/40.000 live births. We report on a preterm infant with VACTERL presentin with respiratory complicatons due to the presence of severe tracheomalacia and bronchomalacia. He also had an annular pancreas.

Comparison of fuel value and combustion characteristics of two different RDF samples.

Generation of Municipal Solid Waste (MSW) tends to increase with the growing population and economic development of the society; therefore, establishing environmentally sustainable waste management strategies is crucial. In this sense, waste to energy strategies have come into prominence since they increase the resource efficiency and replace the fossil fuels with renewable energy sources by enabling material and energy recovery instead of landfill disposal of the wastes. Refuse Derived Fuel (RDF), which is an alternative fuel produced from energy-rich Municipal Solid Waste (MSW) materials diverted from landfills, is one of the waste to energy strategies gaining more and more attention. This study aims to investigate the thermal characteristics and co-combustion efficiency of two RDF samples in Turkey. Proximate, ultimate and thermogravimetric analyses (TGA) were conducted on these samples. Furthermore, elemental compositions of ash from RDF samples were determined by X-Ray Fluorescence (XRF) analysis. The RDF samples were combusted alone and co-combusted in mixtures with coal and petroleum coke in a lab scale reactor at certain percentages on energy basis (3%, 5%, 10%, 20% and 30%) where co-combustion processes and efficiencies were investigated. It was found that the calorific values of RDF samples on dry basis were close to that of coal and a little lower compared to petroleum coke used in this study. Furthermore, the analysis indicated that when RDF in the mixture was higher than 10%, the CO concentration in the flue gas increased and so the combustion efficiency decreased; furthermore, the combustion characteristics changed from char combustion to volatile combustion. However, RDF addition to the fuel mixtures decreased the SO2 emission and did not change the NOx profiles. Also, XRF analysis showed that the slagging and fouling potential of RDF combustion was a function of RDF portion in fuel blend. When the RDF was combusted alone, the slagging and fouling indices of its ash were found to be higher than the limit values producing slagging and fouling.

CD31 and Factor VIII in angiogenesis of normal and pre-eclamptic human placentas.

We aimed to evaluate normal and pre-eclamptic placental vasculature by using CD31 and Factor VIII. We evaluated placentas of 37 pre-eclamptic women by using immunohistochemical staining with CD31 and Factor VIII antibodies. Individual microvessels in the placental tissues were counted at × 100 and × 400 magnification. Microvessel counts were lower in placentas of pre-eclamptic patients compared with healthy controls after staining with CD31 (26.5 ± 5.7 vs 103.9 ± 8.2, p < 0.001) and Factor VIII (24.8 ± 6.7 vs 98.7 ± 10.3, p < 0.001). Balance between proangiogenic and antiangiogenic factors seems to be shifted in favour of anti-angiogenic factors in pre-eclampsia.

Comparison of the efficacy of tigecycline and teicoplanin in an experimental methicillin-resistant Staphylococcus aureus osteomyelitis model.

We evaluated the efficacy of tigecycline and teicoplanin in a rat model of MRSA osteomyelitis. Osteomyelitis was induced with an intramedullary injection of 10(8 )colony-forming units (cfu) of MRSA. After osteomyelitis formation was confirmed on Day 14, infected rats were randomly divided into three groups: tigecycline (n=13), teicoplanin (n=13), and no-treatment control (n=14). A 28-day antibiotic therapy with a subcutaneous injection of tigecycline (14 mg/kg twice daily) or intramuscular administration of teicoplanin (20 mg/kg daily) was administered. Rats were then sacrificed, and the tibias were harvested. The bones were weighed and then cultured. Our results indicated that bacterial growth was significantly reduced in teicoplanin and tigecycline groups, compared to the control group (p=0.019 and p=0.006, respectively). However, no difference was detected between the two antibiotic groups (p=1.000). No bacterial growth was detected in 7 out of 13 and 9 out of 13 specimens of the teicoplanin and tigecycline treated groups, respectively. Although this result was numerically in favor of tigecycline, the difference was not statistically significant (p=0.427). In conclusion, tigecycline, a novel antibiotic, appears as an effective alternative to teicoplanin in the treatment of osteomyelitis caused by MRSA.