No linkage to the COL4A3 gene locus in Japanese thin basement membrane disease families

Summary: Patients with thin basement membrane disease (TBMD) exhibit persistent haematuria with a diffuse thinning of the glomerular basement membrane (GBM), especially of the lamina densa. It appears to be an autosomal dominant trait. It has been reported that the Goodpasture epitope, which is located in the non-collagenous domain of type IV collagen α 3 chain, may be reduced in patients with TBMD. We speculated that the candidate gene for TBMD could be the type IV collagen α 3 chain gene ( COL4A3 ), which is present closely to type IV collagen α 4 chain gene ( COL4A4 ) on chromosome 2q35–37. We conducted a linkage analysis to investigate the relationship between familial TBMD and COL4A3 gene, using COL4A3 cDNA polymorphism and a (CA)_n microsatellite marker located in the COL4A3 gene. We examined 32 individuals from four Japanese families with TBMD. There were no associations between the patients with haematuria and certain alleles of the two markers in the pedigrees of three families. It has been reported that type IV collagen α 1 chain gene ( COL4A1 ) and α 2 chain gene ( COL4A2 ) are not involved in TBMD, and that α 5 chain gene ( COL4A5 ) and a 6 chain gene ( COL4A6 ) map to chromosome X. In conclusion, our findings suggested that familial TBMD is not caused by the genetic abnormalities of type IV collagen genes isolated thus far.     

Sleep problems in the aged in relation to senility

Abstract As a part of an epidemiologic survey of dementia in a community of aged persons, correlation between sleep complaints and physical illness and senility were studied. A total of 3302 randomly sampled aged individuals (aged 65 yean) were studied using a questionnaire. In this sample the prevalence of poor sleep and habitual snoring did not increase with age. The prevalence of excessive daytime sleepiness showed an increase with age. Male predominance of habitual snoring and female predominance of poor sleep were observed. Female predominance of excessive daytime sleepiness was noted among the aged 70 and over. Age-related excessive daytime sleepiness was significantly correlated with senility.     

Detection of Alterations in the Levels of Neuropeptides and Salivary Gland Responses in the Non-Obese Diabetic Mouse Model for Autoimmune Sialoadenitis

The salivary glands of non-obese diabetic (NOD) mice and BALB/c controls were evaluated for the stimulatory effects of the following neuropeptides; substance P (SP), vasoactive intestinal polypeptide (VIP), and neuropeptide Y (NPY). Injection of either of the three neuropeptides in combination with the muscarinic–cholinergic agonist pilocarpine increased saliva flow rates in BALB/c mice while there was no observable augmentation to flow rates in pre-diabetic or diabetic NOD mice. Small increases in protein content of the stimulated saliva were observed in the BALB/c group of animals with the injection of any of the above neuropeptides in combination with pilocarpine. In pre-diabetic NOD animals, only VIP and NPY increased the protein content-ratio above pilocarpine alone. Radioimmunoassay determination of neuropeptide concentrations in the submandibular and parotid glands revealed reduced levels of SP with diabetes onset as compared with pre-diabetic NOD or BALB/c mice. The levels of NPY were similar between BALB/c and NOD animals except in the pre-diabetic parotid gland where NPY concentrations were 1.3-fold greater. On the other hand, VIP concentrations were substantially reduced in the submandibular gland of NOD mice, while in the parotid gland neuropeptide levels were evaluated 3.8-fold relative to BALB/c controls. Immunohistochemical staining of the parotid and submandibular glands for SP revealed primarily ductal cell staining which was reduced with diabetes onset in NOD animals. These findings further define the sialoadenitis observed in NOD mice to be due, in part, to a general loss of neurotransmitter responsiveness on the part of salivary gland cells.     

Enhancement of J–ST-Segment Elevation by the Glucose and Insulin Test in Brugada Syndrome

NOGAMI, A., et al. : Enhancement of J–ST-Segment Elevation by the Glucose and Insulin Test in Brugada Syndrome. The effects of glucose and insulin on J–ST-segment elevation were evaluated in seven men   (mean age 45 ± 10 years)   with Brugada syndrome. Six patients had been reanimated from VF and one patient had experienced syncope. The effects of intravenous (1) pilsicainide 50 mg, (2) glucose 50 g, and (3) glucose 50 g plus regular insulin 10 IU on the precordial ECG leads were examined. Pilsicainide significantly enhanced J-ST elevation in all patients and induced VF in 1 patient. A significant accentuation of the abnormal J-ST configuration was observed in all patients at a mean of   51 ± 40   minutes after glucose and insulin infusion. Changes in blood glucose and serum potassium concentration were   111 ± 158 mg/dL   and   −0.30 ± 0.48 mEq/L   , respectively. These changes were not directly related to the ECG changes. Glucose infusion without insulin caused a subtle increase in J-ST elevation. In conclusion, the administration of glucose and insulin safely unmasked or accentuation the J–ST-segment elevation in Brugada syndrome. Blood glucose and insulin concentrations may be factors modulating the circadian or day-to-day ECG variations in this syndrome. (PACE 2003; 26[Pt. II]:332–337)     

Alcohol effect on sleep electroencephalography by fast Fourier transformation

Abstract The influence of alcohol (ethanol) on sleep was investigated in 10 men. Polysomnography (PS) was recorded on a baseline night (BL-N) and an ethanol (0.8 g/kg) night (Et-N). On visual score rapid eye movement (REM) sleep was reduced, REM latency was prolonged on Et-N as compared to BL-N. Using the fast Fourier transformation method, electroencephalographic power density of REM sleep in δ frequencies band and in the 10–12 Hz range of non-REM sleep were enhanced. REM sleep and non-RJEM sleep changes were prominent in the second-half and first-half of the night, respectively.     

Laparoscopic cholecystectomy in the elderly: Analysis of pre-operative risk factors and postoperative complications

A retrospective study was conducted of two groups of patients over (group 1, n= 57) and under (group 2, n= 655) the age of 70 years who underwent laparoscopic cholecystectomy (LC). The pre-operative physical status and systemic complications, operation time, postoperative complications, postoperative hospital stay and other clinical features of the two groups were compared. The incidence of pre-operative complications in group 1 was significantly higher than that in group 2 (P < 0.05). Postoperatively no severe complication was found in any patient. Group 1 showed significantly prolonged operation time and postoperative hospital stay compared with group 2 (P < 0.05). The difference between the groups in the intra-operative treatment time and postoperative treatment is attributed to the greater prevalence of common bile duct stone in group 1 as there was little difference between the groups in the postoperative recovery after exclusion of these patients. No pulmonary complications, which are associated with LC, were observed; the postprocedure pain was slight and the period of bedrest was short. If complications associated with pneumoperitoneum can be prevented, this surgery is an excellent measure to improve the quality of life of even elderly patients with cholecystolithiasis.     

Renal silica calculi in an infant

We report on a rare case of urinary silica calculi in a 10-month-old boy. The boy showed acute pyelonephritis with left hydronephrosis. Ultrasonography and computed tomography revealed a calculus at the left ureteropelvic junction and three additional calculi in the left renal pelvis. Because his acute pyelonephritis was refractory to conventional chemotherapy, the patient underwent successful left percutaneous nephrostomy followed by percutaneous nephrolithotripsy for the renal calculi. All stones disappeared and his postoperative course was uneventful. On infrared spectrophotometry, the wavelength pattern of the stones exhibited two peaks at 1100 and 1650 cm(-1), consistent with the determination that the calculi consisted of a mixture of silicate (78%) and calcium oxalate (22%). We consider that the etiology of the calculi in this child can be ascribed to the silicate-rich water used to dilute milk. In Japan, 46 adult patients with urinary silicate calculi have been reported in the literature; however, there is no report of the disease in an infant in Japan.     

An Immunotoxin, Anti-VIP Antibody-Ricin A Chain Conjugate Eliminates Neurons in the Hypothalamic Suprachiasmatic Nucleus Selectively and Abolishes the Circadian Rhythm of Water Intake

In mammals, a master circadian oscillator is known to be located in the suprachiasmatic nucleus (SCN) of the hypothalamus. We examined the function of SCN neurons involved in the mechanism of circadian rhythm of water intake by lesioning them with an immunotoxin, anti-vasoactive intestinal polypeptide (VIP) antibody-ricin A conjugate. We found that the immunotoxin had a specific lethal effect on cultured PC12h cells when VIP was added to the medium. When the conjugate was infused into the third cerebral ventricle of rats above the SCN, two specific types of selective lesions of neurons were observed in the SCN: selective lesions of neurons containing arginine vasopressin (AVP) (AVP-neurons), and selective lesions of neurons containing VIP (VIP neurons). The former lesions caused disappearance of the circadian rhythm of drinking behavior, whereas the latter lesions did not affect the rhythm of water intake under constant dim lighting. Lesions that did not selectively affect one of these neurochemically identified SCN cell populations were also observed after the infusion of the conjugate or normal rabbit serum immunoglobulin G-ricin A chain conjugate. If these nonspecific lesions included entire region of the SCN, the circadian rhythm of water intake was abolished. These findings suggest that SCN neurons bearing VIP receptors such as AVP neurons, but not VIP neurons, may be involved in the mechanism of the circadian rhythm of water intake. Copyright © 1996 Elsevier Science Inc.