Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.     

Panhypopituitarism as first manifestation of a lung cancer

Pituitary metastases of solid tumours are infrequent, specially as a first manifestation. When they happen, they are usually due to breast or lung cancer and are asymptomatic or produce diabetes insipidus. It is very strange that they produce hormonal deficiency. We present a case report of a bronchogenic adenocarcinoma in a 65-year-old man which began with panhypopituitarism, diabetes insipidus and visual alterations. Magnetic resonance imaging revealed a large sellar mass, with clivus infiltration and invading the right cavernous sinus. The biopsy result was adenocarcinoma metastases from lung cancer.     

A Paradigm for Design of Closed Loop Neuromuscular Electrical Stimulator Control Systems

Abstract: The use of neuromuscular electrical stimulation (NMES) for rehabilitation of gait in spinal patients is widely known. The best results can be obtained with the use of biomechanical sensors and a closed loop NMES system. One of the biggest problems faced in the design of control systems for closed-loop operation, in gait rehabilitation, is the variation of the mechanical conditions during the phases of gait. This work presents a new approach to ease the design of rule-based closed loop systems for operation in conditions such as gait rehabilitation.     

Embolization of nonvariceal portosystemic collaterals in transjugular intrahepatic portosystemic shunts

Percutaneous embolization of large portosystemic collaterals was performed in three patients following placement of a transjugular intrahepatic portosystemic shunt in order to improve hepatopetal portal flow. Improved hepatic portal perfusion was achieved in these cases, thereby theoretically reducing the risk of chronic hepatic encephalopathy.     

Severe Necrosis Due to Paclitaxel Extravasation

Paclitaxel is an antineoplastic agent derived from the bark of the Pacific yew tree that has activity against many tumors including breast and ovarian carcinomas. In the past, its extravasation quality has been considered to be a local irritant; however, recent reports suggest that the agent may be a vesicant. A patient experienced a delayed vesicant reaction to a paclitaxel extravasation that resulted in severe necrosis. No acute symptoms were reported at the time of extravasation from the 24-hour peripheral paclitaxel infusion. However, on day 11 the patient complained of severe and progressive pain at the site of extravasation. The site was erythematous and had areas of central necrosis requiring debridement and closure by a plastic surgeon. Because paclitaxel possesses vesicant characteristics, health care professionals should be aware of its potential extravasation hazard. Prolonged peripheral infusions should be avoided or administered with extreme caution.     

Photoinduced electron transfer in porphyrin-naphthyl pairs covalently and randomly bound to α-helical poly(L-lysine)

The photophysics of protoporphyrin-naphthyl (P-N) pairs covalently and randomly bound to the ε-amino groups of the side-chains of poly(L -lysine) (PL) were investigated by steady-state and time-resolved fluorescence measurements. The results indicate that quenching of excited naphthalene (λ_ex = 280 nm) chiefly occurs by interconversion to the triplet state when the polymeric matrix is in random coil (pH ≈ 7) and by intramolecular electron transfer from ground-state porphyrin, P → ¹N^*, when the polypeptide is in α-helical conformation (pH ≈ 11), the specific rate constant of the electron transfer being 3,1 · 10⁷ s^?1 (25°C). PNPL exhibits very little exciplex fluorescence, whatever the pH, suggesting both a reduced internal Brownian motion of the chromophores, owing to the amide bond in the substituted side-chains, and a relatively large average interprobe separation distance. This agrees with polarized fluorescence data and with the results of a conformational statistics analysis on the fully ordered PNPL, indicating that the average interchromophoric distance for which the electron transfer has the highest probability to occur is around 12 Å. The computational results allowed us to reproduce the experimental fluorescence decay curves and estimate the parameters governing the electron transfer process. Implications of these findings on the relaxation time of the heli-xcoil transition in PNPL are briefly discussed.