Hypothalamic hamartoma with bilateral anophthalmia

Introduction Hypothalamic hamartomas are congenital malformations. Clinically, they can be asymptomatic, but they cause seizures, mental retardation and precocious puberty in many cases. Case report A 20-day-old boy with hypothalamic hamartoma and bilateral anophthalmia was presented. Except those, no other congenital anomaly was detected. Conclusion This is a rare case of hypothalamic hamartoma with bilateral anophthalmia. The mutations at SOX2 has an important role in the developing brain and eyes.     

Impaired modulation of motor cortex excitability by homonymous and heteronymous muscle afferents in focal hand dystonia.

A decrease of heteronymous median nerve-evoked inhibition of corticospinal projections to forearm extensor muscles was reported in a group of 10 dystonic patients by Bertolasi and colleagues in 2003. Here we tested the excitability of corticomotoneuronal connections to both wrist extensor (ECR) and flexor (FCR) muscles after conditioning stimulation of median and also radial nerve at rest in a group of 25 patients with focal hand dystonia compared to 20 healthy subjects. We also investigated the effect of the wrist dystonic posture, either in flexion or in extension, on the afferent modulation of ECR and FCR motor evolved potentials (MEPs). The heteronymous (median-induced) but also homonymous (radial-induced) inhibitions (interstimuli intervals 13-21 ms) of ECR MEP size observed in healthy subjects were decreased in patients. In addition, homonymous (median-induced) facilitation of FCR MEP size was also decreased in patients while heteronymous inhibition (radial-induced) was not. Neither the involvement of the target muscle in the dystonic posture nor the origin of the afferent volley (from a dystonic muscle) influenced the degree of impairment of afferent modulation of the MEP. These findings support the view that a global abnormal somatosensory coupling in focal hand dystonia may contribute to an inadequate motor command to wrist muscles.     

Influence of time elapsed between myocardial infarction and coronary artery bypass grafting surgery on operative mortality.

OBJECTIVE: Optimal timing for CABG surgery after myocardial infarction (MI) remains controversial. We examined the influence of patient age and time elapsed between MI and isolated CABG surgery on operative mortality. METHODS: Perioperative data of 13,545 patients who underwent isolated CABG surgery from 1991 to 2005 were reviewed. A previous MI was found in 7219 patients, classified among groups A-E whether they underwent surgery less than 6h (A, n=26), between 6 and 24h (B, n=51), between 1 and 7 days (C, n=313), between 8 and 30 days (D, n=917), or more than 30 days (E, n=5912) after the event. Crude percentages and odds ratio estimates of operative mortality were calculated. RESULTS: In patients who had no history of MI, the mortality rate was 1.7%, while it was, respectively, 19.2, 9.8, 8.6, 3.2, and 2.4% in patients from groups A to E. Among 6589 patients over 65 years of age, 3027 had no history of MI. Their mortality was 2.4%, compared to, respectively, 35.7, 13.8, 11.3, 5.1, and 3.9% for those belonging to groups A-E. Overall odds ratio estimates of operative mortality were 3.92 (p=0.19), 5.08 (p=0.002), 4.33 (p=0.0001), 1.50 (p=0.08), and 1.18 (p=0.24) for groups A-E, respectively. CONCLUSIONS: Operative mortality is not influenced by a history of MI sustained more than 30 days prior to isolated CABG surgery, but is highly and most significantly increased between 6h and 1 week after MI, especially in older patients. That critical period should be avoided whenever possible.