The genetics of myopia

Myopia is the most common eye condition worldwide and its prevalence is increasing. While changes in environment, such as time spent outdoors, have driven myopia rates, within populations myopia is highly heritable. Genes are estimated to explain up to 80% of the variance in refractive error. Initial attempts to identify myopia genes relied on family studies using linkage analysis or candidate gene approaches with limited progress. More genome-wide association study (GWAS) approaches have taken over, ultimately resulting in the identification of hundreds of genes for refractive error and myopia, providing new insights into its molecular machinery. These studies showed myopia is a complex trait, with many genetic variants of small effect influencing retinal signaling, eye growth and the normal process of emmetropization. The genetic architecture and its molecular mechanisms are still to be clarified and while genetic risk score prediction models are improving, this knowledge must be expanded to have impact on clinical practice

April 2013 critical care case of the month: too many diagnoses

No abstract available. Article truncated at 150 words. History of Present Illness A 71 year old diabetic woman was admitted for 6-8 weeks of progressive dyspnea, non-productive cough, orthopnea, generalized edema and intermittent fevers. She has a history of living-related donor renal transplant from her husband in 1999 and was diagnosed with locally advanced pancreatic adenocarcinoma in October 2012. She was treated with insulin for diabetes; the immunosuppressants tacrolimus, mycophenolate and low-dose prednisone for her renal transplant; and weekly gemcitabine beginning in 11/2012 for her pancreatic cancer. Her course was complicated by left lower extremity deep venous thrombosis in January 2013 and she was treated with full dose enoxaparin at 1 mg/kg BID. She was tolerating her chemotherapy poorly with a myriad of complaints including fatigue, skin ulcerations, poor appetite, weakness, dysphagia, malaise, nausea and intermittent chest pains. Her most recent chemotherapy was held because of pancytopenia. She was admitted to our hospital in early March 2013 with

The development of glossopharyngeal breathing and palatal myoclonus in a 29 year old after scuba diving

Palatal myoclonus is a rare movement disorder characterized by brief, rhythmic involuntary movements of the soft palate. Palatal myoclonus is further subdivided into “essential palatal tremor” (EPT) and “symptomatic palatal tremor” (SPT). EPT is characterized by involvement of the tensor veli palatini, myoclonus that might persist during sleep, as well as ear clicks, usually the patient’s presenting complaint. The MRI and neurological exam are normal in EPT. SPT is characterized by involvement of the levator veli palatini and myoclonus which consistently perseveres during sleep. The MRI shows olivary hypertrophy and clinical features may include ataxia, dysarthria and nystagmus, depending on the size of the lesion1. Glossopharyngeal breathing is a technique used by deep-sea divers to increase lung vital capacity, which is also useful in patients with ventilator dependence from poliomyelitis and Duchenne muscular dystrophy. To date there have been no reported cases of palatal myoclonus and glossopharyngeal breathing occurring simultaneously. We present the case of a 29 year-old female with palatal myoclonus and glossopharyngeal breathing after scuba-diving