Zellweger Syndrome: A Case Report.

Zellweger syndrome is an autosomal recessive disease within the spectrum of peroxisome biogenesis disorder manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and kidney. Common clinical presentations include hypotonia, seizure, hepatomegaly, craniofacial dysmorphism and early death. Mutation in one of the PEX genes coding for a peroxisome assembly protein creates a functionally incompetent organelle causing accumulation of very long chain fatty acids in various organs. Here we report the case of a 5-month-old male presented at birth with hypotonia, poor feeding, gross congenital anomalies and later during early infancy with failure to thrive, several episodes of seizures, aspiration due to feeding difficulties and recurrent severe pneumonia. A whole genomic sequencing brought us to the final diagnosis of Zellweger syndrome. Despite an absence of treatment options, prompt diagnosis of Zellweger syndrome is important for providing appropriate symptomatic care, definitive genetic testing and prenatal counselling. Keywords: case reports; mutation; neonate; Zellweger syndrome.

Thermodynamic Properties of Cetyltrimethylammonium Bromide in Ethanol-Water Media With/without the Presence of the Divalent Salt.

The physicochemical properties of cetyltrimethylammonium bromide (CTAB) in pure water and ethanol-water mixtures in the presence and absence of MnSO4.6H2O were studied by measuring the conductivity at room temperature. The concentration range of CTAB was ~1.00 × 10-5 M to ~1.00 × 10-2M and the concentration of MnSO4.6H2O was 0.001 M, 0.005 M, 0.01 M. With increasing ethanol content in the solvent composition, the critical micelle concentration (CMC) and the degree of micellar dissociation (α) of CTAB increased. With the help of CMC and α, the standard free energy of micellization (ΔG m ο ) was evaluated. With an increase in ethanol content, the negative values of ΔG m ο decreased. CTAB micellization was tested in the context of specific solvent parameters. The solvent conductivity ratio at CMC to limiting conductivity was employed as a solvophobic influence. The addition of salt (MnSO4.6H2O) decreases the CMC of CTAB due to the screening of the electrostatic repulsion of the head groups. Here, we report that micellization is strongly influenced by salt concentration.