Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports

We describe a 32 year old male with a distal 6p24.3-->pter deletion. He has specific developmental anomalies of the anterior chamber of the eye and a cleft uvula which is consistent with the recent localisation of genes for iris development and orofacial clefting to distal 6p. In addition he has progressive sensorineural deafness and this may localise a gene for deafness to this region. We conclude that a refined distal 6p deletion syndrome exists and includes a characteristic facial appearance with hypertelorism, downward slanting palpebral fissures, tented mouth, smooth philtrum, palatal malformation, ear anomalies, anterior chamber eye defects, progressive sensorineural deafness, cardiac defects, abdominal herniae, small external genitalia, and motor and speech delay.     

Global functioning of inpatients with obsessive-compulsive disorder, schizophrenia, and major depression

In April and May 1996, two cases of PDA ligation were performed firstly in Turkey by the method of video assisted thoracoscopic surgery (VATS) in Dokuz Eylül Medical Faculty, Thoracic and Cardiovascular Surgery Department. There was not any complication in these patients in the postoperative period and they were discharged on the second day in symptom-free condition by the detection of closed ductus in their echocardiographic examination. Between February 1993 and October 1996, a total of 46 patients have undergone interventional application by VATS. While in six of these patients the procedure could not be manipulated because of massive pleural fibrosis, there was no mortality or morbidity among the patients, and they were discharged on average on the second day. The ratio of complications, such as bleeding, air leak, arrhythmia and empyema are so low in these operations, and hospital stay, with return to work time are shorter than with the open technique.     

Radiation-degradation susceptibility studies of vinyl terpolymers: Search for improved electron beam resists

To develop polymer systems with improved lithographic resist properties, terpolymers of methyl methacrylate/methacrylonitrile/methyl α-chloroacryate (MMA/MCN/MCA), methyl methacrylate/methacrylonitrile/α-chloroacrylonitrile (MMA/MCN/ACAN), and methyl methacrylate/methacrylonitrile/vinylidene chloride (MMA/MCN/VDC) were prepared by emulsion polymerization. Also one methyl methacrylate/ methyl α-chloroacylate/α-chloroacrylonitrile (MMA/MCA/ ACAN) terpolymer was prepared. The radiation susceptibilities of these terpolymers were measured using the ⁶⁰Coγ-irradiation method. Molecular weights were determined both by membrane osmometry and gel permeation chromatography. All terpolymers exhibited higher radiation-degradation susceptibilities than poly(methyl methacrylate). The Gs values did not follow the general trend, previously observed with MCN/MCA copolymers, of being directly proportional to the respective terpolymer compositions. In some cases, the addition of small quantities of α-chlorine-containing monomers caused Gx to increase. This observation greatly differs from those observed for copolymer systems such as MMA/MCA, MCN/MCA, MMA/ ACAN, etc. studied previously. Terpolymerization gives highly soluble polymers especially suitable for wet development by many solvents. This is an important consideration for polymers with high mole fractions of methacrylonitrile (MCN) or vinylidene chloride (VDC) which are rendered soluble in development solvents. The electron-beam sensitivities were obtained for samples of three classes of the terpolymers and they were higher than that of PMMA. For example, at 20Kev a 62/34/4 MMA/MCN/MCA terpolymer exhibited a sensitivity of 1.3 × 10^?5 coulombs cm^?2 at l/l_o = 1. The introduction of ACAN narrows the working range for positive resist behavior. For example MMA/MCN/ACAN(41/40/19) has a sensitivity of 8.3 × 10^?6 coulombs cm^?2 at l/l₀ = 0.6 but it crosslinks at 1 ? 1.3 × 10^? coulombs cm². The MMA/MCN/VDC(21/76/3) polymer was about 25 times more sensitive than PMMA (7 × 10^?6 C cm^?2 at l/l₀=1).     

Postural changes in plasma renin activity and responses to vasoactive drugs in a case of Shy-Drager syndrome

A male aged 47 years with gross autonomic insufficiency as part of the Shy-Drager syndrome is described. He did not sweat normally when warmed, and his circulatory responses to mental arithmetic, the Valsalva manoeuvre, and head-up tilt were abnormal indicating severe sympathetic failure. During head-up tilt there was a rise in plasma renin activity and plasma aldosterone. It is argued that plasma renin activity is not dependent on sympathetic nervous activity and may be mediated by renal baroreceptors. These rises may help sustain the blood pressure in such patients during repeated head-up tilts. Infusions of L-noradrenaline and angiotension produced greater hypertension, and injections of isoprenaline greater hypotension than in controls. Although it is difficult to exclude the possibility that one factor in this may be hypersensitivity of receptors in blood vessel walls, the principal factor is likely to be the absence of those baroreflexes of which the efferent pathways are in the sympathetic nervous system.     

A simplified technique for selective and superselective abdominal angiography

A simplified technique for selective abdominal angiography utilizing the Simmons Femoral-Cerebral catheter is described. The technique affords a rapid simple approach to selective and superselective catheterization of the celiac, superior mesenteric and inferior mesenteric arteries.     

Cerebrospinal fluid shunts

Arginine-insulin stimulation and IV glucose suppression (AIGT) tests were used to evaluate release of insulin and growth hormone. Adult patients responded normally. Hypopituitary patients showed no hGH response. One third of short normal patients showed abnormal hGH responses to glucose suppression. Two thirds of the short normal patients showed poor insulin responses to either amino acid or glucose stimulation. Such patients might have abnormalities in release mechanisms for insulin and suppression mechanisms for hGH and this might contribute to their growth failure.     

Induction of nest-material collecting in male Barbary doves by intracerebral androgen

The formation of androgen-binding protein (ABP) by cultured Sertoli cells, prepared from testes of immature rats, is increased when androgens or follicle-stimulating hormone (FSH) are present in the medium. Testosterone and 5alpha-dihydrotestosterone are equally effective in stimulating the synthesis and secretion of ABP, but non-androgenic steroids examined (progesterone, 17beta-estradiol and corticosterone) are without influence. Maximal increases are observed when androgens are added at the time of cell plating. Cells maintained in culture medium devoid of hormones become progressively less sensitive to subsequent addition of testosterone or FSH. Data are discussed in relation to the sites of androgen requirements for spermatogenesis.