Limb body wall complex

Limb body wall complex (LBWC) is a rare clinicopathological entity, representing a compound anomaly pattern in ventral body wall defects. The authors report a case of LBWC diagnosed in early antenatal period. The pregnancy was terminated following the diagnosis. Fetal autopsy findings were typical of LBWC

Loading effect on friction behavior of ordered/disordered graphite in ambient and inert condition

19-25Load dependent friction behavior of structurally ordered and disordered graphite is measured in ambient and nitrogen gas atmosphere. Friction coefficient is significantly less in graphite in order as compared to disorder in ambient atmosphere. This behavior is attributed to structural defects in graphite lattice. However, under nitrogen gas, friction coefficient graphite is significantly high irrespective of structural order or disorder of graphite. This typical behavior is mainly attributed by chemical reactivity of graphite surface which is high in nitrogen gas and not much influenced by structural ordering/disordering. In both types of graphite, steep increase in friction coefficient is observed at high load. This is explained by reasonable increase in contact area and followed by the Johnson−Kendall−Roberts (JKR) model

Mitochondrial translation defects and human disease

In eukaryotic cells, mitochondria perform the essential function of producing cellular energy in the form of ATP via the oxidative phosphorylation system. This system is composed of 5 multimeric protein complexes of which 13 protein subunits are encoded by the mitochondrial genome: Complex I (7 subunits), Complex III (1 subunit), Complex IV (3 subunits), and Complex V (2 subunits). Effective mitochondrial translation is necessary to produce the protein subunits encoded by the mitochondrial genome (mtDNA). Defects in mitochondrial translation are known to cause a wide variety of clinical disease in humans with high-energy consuming organs generally most prominently affected. Here, we review several classes of disease resulting from defective mitochondrial translation including disorders with mitochondrial tRNA mutations, mitochondrial aminoacyl-tRNA synthetase disorders, mitochondrial rRNA mutations, and mitochondrial ribosomal protein disorders