Rare mutations in IRF6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder. Common variants in IRF6 and GRHL3 also contribute risk for isolated orofacial clefting. Similarly, variants within genes that encode receptor tyrosine kinase (RTK) signaling components, including members of the FGF pathway, EPHA3 and SPRY2, also contribute risk for isolated orofacia...

Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early infantile period with nystagmus, commonly associated hypotonia, delayed acquisition of motor milestones, speech delay and dysarthria. We present 7-year-old female born to nonconsanguineous marriage developmental delay. On examination, she had 22 teeth, nystagmu...

Case: A 59-year-old woman presented to the Emergency Department (ED) with progressive bilateral lower extremity weakness and numbness for a week. She had an upper respiratory infection 3 weeks prior, treated with an oral antibiotic. She denied any other neurological deficits. On exam, she had decreased motor strength in both lower extremities proximally with power about 4 of 5. Babinski was equ...

The janus mutations of Tetrahymena thermophila convert the large-scale organization of the dorsal surface of the cell into a mirror-image of the ventral surface, which is characterized by a second, abnormal, oral apparatus and by contractile vacuole pores to the left of the second oral area rather than the usual right. This conversion could be due either to a local change in the response to an ...

Receptors located in the posterior oral cavity and on the epiglottis play an important role in the initiation of upper airway reflexes such as swallowing, gagging, coughing and apnea. Peripheral nerves which innervate these receptor areas terminate in the nucleus tractus solitarius (NTS). We have recorded the responses of 61 neurons in the lamb NTS to stimulation of the caudal tongue, palate an...

abstract background: mustard gas, lethal in high doses, affects multiple organs such as skin, eye and respiratory system. we studied the development of late onset mustardinduced polyneuropathy among chemically wounded iranian veterans. methods: in this descriptive study, 100 chemically wounded iranian veterans with severe eye involvement were examined for any signs and symptoms of polyneuropath...