Hereditary mucoepithelial dysplasia and severe respiratory distress

Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disorder characterized by mucoepithelial disruption of the skin, hair and mucous membranes. It results from defective gap junction formation and leads to non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, involvement of the conjunctival mucosa, and pulmonary disease. We present a case of severe respiratory distress in an initially healthy full term infant born to a mother with HMD. This infant later developed signs and symptoms of HMD. A high index of suspicion for pulmonary infection with atypical organism is essential in infants with a family history of HMD who present with respiratory distress

Cytotoxic activity of alkyl benzoate and fatty acids from the red sea sponge <i>Hyrtios erectus</i>

<p>The chemical investigation of the methylene chloride fraction of marine sponge <i>Hyrtios erectus</i> led to the isolation of the known oxysterol (<b>2</b>) along with a new alkyl benzoate compound identified by spectroscopic methods (NMR and MS) as 4′-methylheptyl benzoate (<b>1</b>), whilst the <i>n</i>-butanol fraction afforded the known indole 3-carbaldehyde and β-carboline derivatives. Moreover, the hexane fraction was analysed by GC–MS for their fatty acids (FAs). A total of 17 FAs with chain lengths between 14 and 25 carbons were identified. Methyl-branched FAs are predominated suggesting the presence of bacterial symbionts in the <i>H. erectus</i> sponge. Furthermore, compounds <b>1</b> and <b>2</b> displayed significant cytotoxicity against breast adenocarcinoma (MCF-7) with IC₅₀ values of 2.4 and 3.8 μM, respectively, since compound <b>2</b> was also shown to have potent cytotoxic effect against hepatocellular carcinoma cells (HepG 2) with IC₅₀ value of 1.3 μM.</p