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Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P=0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P=0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6W923Xwas transmitted by a mother to her two sons with ASD and one variant CNTN6P770Lwas found de novo in a boy with ASD. Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. These results reinforce the hypothesis of abnormal neuronal connectivity in the pathophysiology of ASD and shed new light on the genes that increase risk for abnormal sensory perception in ASD.

We isolated a cDNA encoding a novel glucuronyltransferase, designated GlcAT-D, involved in the biosynthesis of the HNK-1 carbohydrate epitope from rat embryo cDNA by the degenerate polymerase chain reaction method. The new cDNA sequence revealed an open reading frame coding for a protein of 324 amino acids with type II transmembrane protein topology. The amino acid sequence of GlcAT-D displayed 50.0% identity to rat GlcAT-P, which is involved in the biosynthesis of the HNK-1 epitope on glycoproteins. Expression of GlcAT-D in COS-7 cells resulted in the formation of the HNK-1 epitope on the cell surface. The enzyme expressed in COS-7 cells transferred a glucuronic acid (GlcA) not only to asialo-orosomucoid, a glycoprotein bearing terminal N-acetyllactosamine structure, but also to paragloboside (lacto-N-neotetraosylceramide), a precursor of the HNK-1 epitope on glycolipids. Furthermore, substrate specificity analysis using a soluble chimeric form of GlcAT-D revealed that GlcAT-D transfers a GlcA not only to Galbeta1-4GlcNAcbeta1-3Galbeta1-4Glc-pyridylamine++ + but also to Galbeta1-3GlcNAcbeta1-3Galbeta1-4Glc-pyridylamine++ +. Enzymatic hydrolysis and Smith degradation of the reaction product indicated that GlcAT-D transfers a GlcA through a beta1,3-linkage to a terminal galactose. The GlcAT-D transcripts were detected in embryonic, postnatal, and adult rat brain. In situ hybridization analysis revealed that the expression pattern of GlcAT-D transcript in embryo is similar to that of GlcAT-P, but distinct expression of GlcAT-D was observed in the embryonic pallidum and retina. Regions that expressed GlcAT-D and/or GlcAT-P were always HNK-1-positive, indicating that both GlcATs are involved in the synthesis of the HNK-1 epitope in vivo.

1. Amacrine and ganglion cells in the carp retina were identified from such criteria as photoresponses, intracellular dye staining, responses to optic nerve stimulation and behaviour to a synapse blocking agent. 2. Responses of ganglion cells were accompanied by spike discharges., either facilitated or suppressed by photic stimulation. The cells were also invaded by antidromic impulses, which survived after chemical synapses had been blocked by application of atomized CoCl2 solution. In subsequent histology of the Procion‐stained neurones, the cell bodies were found in the ganglion cell layer and the axons were often traced. 3. Amacrine cells were subdivided into two types. The first type gave rise to transient depolarizations at both on‐ and offsets of spot and annulus illuminations, usually being associated with spike discharges of which the amplitudes varied in different cells. In histology, the cell bodies of this type were situated in the inner nuclear layer and dendrites ramified in two or more discrete sublayers of the inner plexiform layer (the stratified amacrine cell of Cajal). 4. The second type of amacrine cells produced sustained responses during illumination, being associated with no spike but with small oscillatory wavelets. The cell bodies were situated in the inner nuclear layer and the dendrites ramified in a single sublayer of the inner plexiform layer (the monolayered amacrine cell). 5. An attempt was made to see the effect of activation of centrifugal fibres on amacrine cells, but almost all of about 200 cells examined did not respond to optic nerve stimulation. Only two cells produced, with long latency, a small post‐synaptic depolarization which disappeared after chemical synapses in the retina had been blocked. It is considered that the physiological role of the centrifugal system is insignificant in the carp retina.

Summary Patients of multiple alopecia areata were examined in their EEG findings and rapid ACTH test and described the symptoms concerning the neuroautonomic system.

Three patients presented with a non-thrombocytopenic purpuric rash on their upper and lower limbs, abdominal pain, diarrhoea, and arthralgia. Grey scale ultrasound showed abnormally thickened walls of the small bowel. Colour Doppler showed blood flow signals in the diseased bowel wall in all patients. Subsequent barium and endoscopic studies showed oedematous bowel loops with petechial lesions. Biopsy from the purpuric rash of the skin demonstrated vasculitis of subdermal small vessels. The clinical diagnosis of Henoch-Schönlein purpura was made in each case. This paper describes the efficacy of grey scale and colour Doppler ultrasonography in the assessment of the small bowel involvement of Henoch-Schönlein purpura.

The catecholaminergic innervation of thyrotropin-releasing hormone (TRH) neurons was examined by use of a combined method of 5-hydroxydopamine (5-OHDA) uptake or autoradiography after intraventricular injection of 3H-noradrenaline (3H-NA) and immunocytochemistry for TRH in the same tissue sections at the electron-microscopic level.

The values of EFG tensors at sodium nuclei were measured by NMR under hydrostatic pressure of 1000 kg°Cm-2. Shift in the upper transition temperature determined from satellite splitting of a Na NMR line was 10.6°C/1000 kg°Cm-2. The result was coincident with the value obtained by Ps measurement. The change of EFG tensors under hydrostatic pressures is equivalent to that produced by decrease in temperature in the upper paraelectric and ferroelectric phases. The difference of OH(5) orientations in the two sublattices under 1000 kg°Cm-2 was estimated to be 20 degree from a calculation of EFG tensors in the ferroelectric phase. A part of value of Ps 0.20 μC/cm2 was attributed to the displacement of H(5) from the one sublattice to the other.

A wide range of bacterial species, e.g., Enterobacteriaceae and Neisseria, Streptococcus, Branhamella, Haemophilus, Gemella, Pseudomonas, Flavobacterium, and Bacteroides species, were successfully preserved for 1 to 5 years by our gelatin disk drying method. The beta-lactamase activity of penicillinase-producing Neisseria gonorrhoeae was retained for more than 3 years with this method. Good results were also obtained upon airmailing many strains of N. gonorrhoeae embedded in gelatin disks from Japan to the United States. Neisseria, Branhamella, Gemella, and Haemophilus organisms suspended in the reagent used in the preparation of the gelatin disks could be preserved for 6 to 12 months after freezing the cell suspensions at -20 degrees C. Furthermore, modification of our gelatin disk preservation method made possible the safe long- and short-distance transportation of clinical isolates. Our methods can be used by any small laboratory, since they require only conventional instruments and reagents.

Light activates rod outer segment (ROS) phosphodiesterase (PDEase), as shown by previous biochemical and physiological studies. We have further investigated the role of PDEase in this system by injecting trypsin-activated PDEase, purified from bovine ROS, into single ROS of the isolated retina of the toad Bufo marinus. Injection of about 300 molecules of activated PDEase in darkness is without immediate detectable effect, as measured by intracellular membrane-voltage recording. The effect of the activated PDEase injections only becomes evident after illumination. The light response is augmented; kinetics of repolarization are slowed. We conclude that this augmentation of the light-dependent hyperpolarization results from the hydrolysis of endogenous cyclic GMP caused by injected PDEase. These results provide evidence that PDEase affects light-dependent channels of the vertebrate scotopic photoreceptors but do not specify whether the effects are exercised for the initial hyperpolarizing phase of the receptor potential and for the recovery phase or only for the recovery phase.

Zusammenfassung 553 Patienten, die an verschiedenen Symptomen von Stoffwechselstörungen autonomer, neurohumoraler, neurodermaler und psychoemotioneller Natur litten, wurden klinisch und elektroenzephalographisch untersucht.

Abstract: We describe magnetic resonance imaging findings in a 37-year-old man with a rare entity of isolated polyarteritis nodosa of the epididymis, which correlated well with the histopathologic findings.

Ultrasonography is of proven value in the diagnosis of the acute abdomen in children, notably intussusception and acute appendicitis.This report describes an unusual case of acute, primary, multiple gastric ulcers in a child. Ultrasonography was used in the establishment of the correct diagnosis and in subsequent follow-up.An 11-year-old boy was admitted to our hospital because of sudden onset of severe, epigastric pain preceded by 2 days of diarrhoea and vomiting. On admission, the abdomen was soft, but tender in the upper part. Laboratory tests showed 7100/mm3leucocytes and haemoglobin 11.6 g/dl with haematocrit 49.3%.