Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.

We report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking of 2D portraits and testing for association with inter-landmark distances. We detected significant associations (P-value <5 × 10-8) at 42 genome regions, nine of which have been previously reported. In follow-up analyses, 26 of the 33 novel regions replicate in East Asians, Europeans, or Africans, and one mouse homologous region influences craniofacial morphology in mice. The novel region in 1q32.3 shows introgression from Neanderthals and we find that the introgressed tract increases nasal height (consistent with the differentiation between Neanderthals and modern humans). Novel regions include candidate genes and genome regulatory elements previously implicated in craniofacial development, and show preferential transcription in cranial neural crest cells. The automated approach used here should simplify the collection of large study samples from across the world, facilitating a cosmopolitan characterization of the genetics of facial features.

Novel case of ocular neuromyotonia associated with thyroid-related orbitopathy and literature review.

PURPOSE: To present a novel case of pupillary involvement in ocular neuromyotonia (ONM), a rare ocular syndrome that causes intermittent diplopia because of an abnormal delay in extraocular muscle relaxation and to conduct a literature review. METHODS: A case report is presented to demonstrate clinical characteristics and treatment of ONM. In addition, a literature review is conducted by searching Medline and Embase databases. Data are collected from all known published cases listed in these databases to collate patient demographic data, presumed etiology or associated pathologies, and treatment strategies. RESULTS: The presented case demonstrates successful carbamazepine treatment of thyroid-related orbitopathy-associated ONM involving cranial nerve III. A review of the literature elicits 66 published cases of ONM, three of which were deemed to be associated with thyroid-related orbitopathy. The most common cause of reported ONM is suprasellar pathology, comprising approximately 60% of documented cases. Most published ONM cases (n = 41) were treated with carbamazepine, demonstrating a success rate of 87.8%. Of the published cases, cranial nerve III was involved 56% of the time, cranial nerve VI was affected in 39% of cases, and only 9% of ONM cases involved cranial nerve IV. CONCLUSIONS: Ocular neuromyotonia is a rare cause of intermittent diplopia. Unlike most neurologic etiologies of diplopia, this syndrome can often be treated effectively with carbamazepine by stabilizing the neural cell membrane. To the authors' knowledge, this is the first presentation of ONM associated with thyroid-related orbitopathy, demonstrating bilateral but asymmetric miosis during episodes of muscle spasm.

Long-term and acute effects of zinc contamination of a stream on fish mortality and physiology.

A section of the Upper Enoree River in South Carolina, USA, was contaminated with chemical waste in 1985, and high concentrations of zinc persist decades later. In this study, we examined the zinc concentrations in the water, the accumulation of zinc in a variety of fish tissues, the effects of the contaminated water on fish sperm motility in vitro, and the mortality rates of introduced fish. Zinc concentrations in the water samples collected from six sites decreased as distance from the spill site increased, ranging from 7.3 to 0.34 mg/L (p < 0.001). The zinc concentrations of tissues from native fish were highest in liver (mean across sites of 110 ppm/g tissue) and gills (77.4 ppm/g tissue), followed by gonads (30.7 ppm/g tissue) and muscle (6.9 ppm/g tissue) (p < 0.001). The duration of fast motility of Salmo trutta sperm was significantly diminished in sperm activated in samples from the contaminated stream compared with the control stream (p < 0.05). To further evaluate the ability of fish to survive at the sites with different zinc concentrations, groups of Gambusia holbrooki were placed in traps at a reference site (uncontaminated local tributary), and three sites along the contaminated stream. Rapid mortality was observed in the two sites closest to the spill, including one site in which native fish had been found. The introduced G. holbrooki expressed higher zinc concentration in gills than gonads or muscle (p < 0.001), and water zinc concentration significantly affected fish mortality (p < 0.001). The results from these experiments indicate that zinc contamination of streams can have sublethal effects on populations and physiology of fish that are able to survive in the contaminated water.