Genetic mapping of the novel congenital loco locus on chromosome Z in Silkie Fowl chickens.

1. 'Congenital loco' is a disorder in birds expressed at hatching, and the primary symptom is dorsal backward bending of the neck. It is a recessive disease caused by a mutation in a specific genetic locus. The following study identified a novel locus associated with congenital loco in Silkie Fowl chickens.2. Normal and congenital loco-affected Silkie Fowl chicks exhibited no differences in the frequencies of markers on chromosome 12 adjacent to the congenital loco locus reported in a previous study in Rhode Island Red chickens. Sex determination of congenital loco-affected chicks revealed that they were female only.3. Bulked segregant analyses using next-generation sequencing narrowed the causative region of congenital loco to approximately 3.3 Mb between bases 9,569,012 and 12,863,792 on chromosome Z.

Link between obstructive sleep apnea and increased bone resorption in men.

UNLABELLED: The bone metabolic abnormalities in patients with obstructive sleep apnea (OSA) were examined. Severity-dependent increases in the serum/urinary levels of bone resorption markers and their attenuation following continuous positive airway pressure therapy in subjects with OSA provide the first evidence of a link between OSA and abnormal bone metabolism. INTRODUCTION: Hypoxia, microinflammation and oxidative stress, well-known pathophysiological features of obstructive sleep apnea (OSA), are also known to affect bone metabolism. We examined the bone metabolic abnormalities in patients with OSA and also the effects of continuous positive airway pressure (CPAP) therapy on these abnormalities. METHODS: A cross-sectional and prospective study was conducted in 50 consecutive male subjects visiting a sleep clinic and 15 age-matched control subjects without OSA. Plasma concentrations of IL-1beta, IL-6, TNF-alfa, 3-nitrotyrosine, osteocalcin, bone-specific alkaline phosphatase (BAP), and urinary concentrations of cross-linked C-terminal telopeptide of type I collagen (CTX) were examined before and after 3 months' CPAP in subjects with OSA. RESULTS: The plasma levels of the cytokines as well as the urinary CTX levels were higher in subjects with severe OSA than in those with mild OSA or control subjects. Significant decrease of the urinary excretion of CTX (before: 211+/-107 vs. after: 128+/-59 microg/mmol/creatinine; p<0.01) as well as of the plasma levels of the cytokines was observed following 3 months' CPAP. CONCLUSIONS: Severity-dependent increases in the serum/urinary levels of bone resorption markers and their reversal following CPAP in subjects with OSA provide the first evidence of a link between OSA and abnormal bone metabolism.

M-cadherin, a candidate gene for type 2 diabetes and related phenotypes in a KK/Ta mouse model.

The KK/Ta strain serves as a suitable polygenic mouse model for type 2 diabetes associated with fasting hyperglycaemia, glucose intolerance, hyperinsulinaemia, mild obesity and dyslipidaemia. Recently, we reported the susceptibility loci contributing to type 2 diabetes and related phenotypes in KK/Ta mice. In the present study, to identify susceptibility genes for type 2 diabetes and related disorders, GeneChip Expression Analysis was employed to survey the gene expression profile in the liver of KK/Ta and BALB/c mice. M-cadherin, a calciumdependent intercellular adhesion molecule, showed increased expression in the liver of KK/Ta mice, and sequence analysis revealed three missense mutations. The relationship between these polymorphisms and various phenotypes in 208 KK/Ta x (BALB/c x KK/Ta) F1 backcross mice was analysed. Statistical analysis revealed that M-cadherin exhibits linkage to levels of triglyceride and insulin in sera, glucose tolerance and body weight. Although it has been postulated that M-cadherin may be important for the regulation of morphogenesis of skeletal muscle cells, these results suggest that M-cadherin may influence hypertriglyceridaemia, glucose intolerance, hyperinsulinaemia and obesity in KK/Ta mice.

[Summer-type hypersensitivity pneumonitis with remarkable obstructive impairment of pulmonary function].

A 57-year-old-man was admitted because of persistent cough and progressive dyspnea over a period of 2 months. Examination revealed wheezing in both lungs, severe hypoxemia, and marked obstructive impairment of pulmonary function. A chest CT scan showed diffuse small nodular lesions with patchy air space opacifications. The patient was initially given a diagnosis of bronchiolitis of unknown cause. He showed marked improvement after treatment with oral prednisolone, but developed fever and dyspnea after returning home. This episode indicated hypersensitivity pneumonitis, a diagnosis supported by findings of increased CD 8 positive T-lymphocytes in bronchoalveolar lavage fluid, and a high titer of serum anti-Trichosporon antibody. Lung biopsy samples obtained under video-assisted thoracoscopy disclosed noncaseating granulomas in terminal and respiratory bronchioles, which resulted in marked narrowing of the lumen. The pathologic changes seemed to be consistent with obstructive impairment of pulmonary function in this patient.

Induction of in vitro nuclear apoptosis activity coincides with the production of 50 kDa cytosolic protein.

Human monocytic leukemia U937 cells undergo apoptosis when cells are treated with the anticancer drug etoposide. To study the mechanism of drug-induced apoptosis, we used an in vitro apoptosis system with cytosol from etoposide-treated U937 cells. The cytosol from apoptotic U937 cells showed activity to induce morphologic changes and oligonucleosomal DNA fragmentation in isolated nuclei in vitro; both are typical features of apoptosis. We generated monoclonal antibodies to the proteins in the etoposide-treated U937 cytosol. We found that a 50 kDa protein, recognized by SN-1 monoclonal antibody, appeared in the cytosol of U937 cells, in accordance with its cell-free apoptosis activity. Z-Asp, an inhibitor of interleukin-1beta converting enzyme (ICE) family proteases, inhibited the appearance of the 50 kDa protein and the emergence of the cell-free apoptosis activity in the etoposide-treated U937 cytosol. These results indicate that the 50 kDa protein is produced by the activation of ICE family protease during apoptosis and suggest some roles of the protein in the development of apoptosis.

[Studies on intraocular hydrogen ion concentration. The effect of diathermy coagulation for normal albino rabbits' eye].

The vitreous and intra-retinal pH of anesthetized albino rabbits were measured using an antimony pH microelectrode (Micro Antimon pH Electrode No. 801, Diamond Electro-Tech Co. Ltd). The effect for the retinal pH was observed after regional choroidal circulatory disturbance was synthesized by trans-scleral diathermy. The results showed that the arterial blood pH was 7.45 +/- 0.03 (n = 24). The average vitreous pH was 7.41 +/- 0.11 (n = 24), which was almost equal to or slightly lower than that of the arterial blood. There were no statistical significance between the two. The average retinal pH was 7.31 +/- 0.11 (n = 22), which was lower statistically than that of the vitreous (p less than 0.01). The retinal pH was measured in the same way 3 weeks after the trans-scleral diathermy. Those within the coagulation scar showed pH value of 6.87 +/- 0.39 (n = 10). This is lower than those in a normal retina (p less than 0.01). This instrument allows continuous pH measurements of the intraocular tissue and therefore it is thought to be useful for the studies of retinal circulatory disturbances.

[Collagen and acid glycosaminoglycans in bovine tunica albuginea during ovulatory cycle].

Collagen and acid glycosaminoglycans (GAG) in bovine tunica albuginea covering the developing follicules (FC) and corpus luteum (CL) were investigated histochemically and biochemically in order to analyze the connective tissue metabolism of the follicular wall as well as to clarify the mechanism involved in stigma repairs after ovulation at the extracellular matrix level. Histochemically, collagen fibers were observed to be loose and sparse by Azan Mallory staining and GAG were markedly stained by alucian blue in large FC. Biochemically, hydroxyproline content showed a significant decrease (43%) in large FC compared with control tunica albuginea. Uronic acid and hexosamine content tended to increase in large FC, compared with small FC. The major GAG component in FC was sulfate GAG, consisting mainly of dermatan sulfate (DS). The DS component ratio and concentration were decreased significantly in large FC, compared with small FC. Remodelling of collagen fibers and an increase in GAG content were observed in CL. The increase in GAG content was caused by a threefold increase in the component ratio and concentration of hyaluronic acid in CL, compared with other tunica albuginea. These results suggest that changes in GAG components in FC and CL are strongly related to collagen metabolism in tunica albuginea during the ovulatory cycle.

Correlation of the hypo-osmotic swelling test, semen score and the zona-free hamster egg penetration assay in humans.

The correlation between the hypo-osmotic swelling test, the modified Eliasson score for human semen analysis and the hamster egg penetration assay was examined. The results showed a weak but significant correlation between the group of subjects with swelling rates below 50% and the above 80% group. These groups showed hamster egg penetration assay rates of 9 +/- 14% and 39 +/- 29%, respectively (P less than 0.035). A significant correlation was also found between modified Eliasson scores (17 +/- 10 and 5 +/- 7, respectively) and swelling rates below 50% and above 70% (P less than 0.001). These results suggest that spermatozoa showing a low swelling rate have a poor fertilizing capacity. Therefore, the swelling tests and analysis of the patients semen can be used to discriminate sperm quality.

[A renal biopsy study in pre-eclampsia: clinical-pathological correlations in 20 cases].

Twenty cases of pre-eclamptic toxemia were examined clinicopathologically. Twelve primipara and 6 multipara underwent renal biopsy at 1-24 (3.5 +/- 5.4, mean +/- SD) weeks after delivery. Specimens were examined by light and electron microscopy and immunofluorescence. Their mean blood pressure at delivery was 177.0 +/- 19.4/116.3 +/- 10.2 mmHg, proteinuria was 9.5 +/- 8.4 g/day. Follow-up period was 23.0 +/- 19.3 months after delivery. The severity of double contour of the glomerular basement membrane and mesangial interposition were correlated with the amount of proteinuria at biopsy (r = 0.40, p less than 0.05, r = 0.51, p less than 0.05, respectively). Proteinuria disappeared in all cases after delivery. The length of the hypertensive period after delivery correlated with the severity of glomerular lesions (r = 0.63, p less than 0.05), but did not correlated with the severity of vascular lesions. All patients became normotensive within three months after delivery. No patients showed microhematuria during pregnancy or after delivery.

Anesthetic management in the arterial switch "jatene" operation for transposition of the great arteries.

The arterial switch "Jatene" operation for transposition of the great arteries (TGA) is an anatomic reconstruction at the level of the great arteries with reimplantation of the coronary arteries. The anesthetic management of 46 patients who underwent the Jatene operation between 1982 and 1985 was retrospectively reviewed. The mean age was 12.3 +/- 11.2 months (youngest: 4 days) and the mean body weight was 7.0 +/- 2.8 kg (smallest: 3.0 kg). Anesthesia was induced with ketamine in 35 patients, and maintained with morphine in 36 patients. Catecholamine (CA) drugs were given to 10 patients before cardiopulmonary bypass (CPB) and to all patients after CPB. In addition, nitroglycerin (NTG) was given to 13 patients during and after CPB. Platelets were given to prevent bleeding due to platelet damage caused by CPB. Six patients died, producing a mortality rate of 13%. Body weight, age, anesthetic agent, dose of CA, volume of blood loss, and duration of aortic cross-clamping, anesthesia, and operation were not significantly related to the deaths. Urinary output was significantly smaller (P < .05) in the patients who died. The LV/RV pressure ratio was as low as 0.625 and 0.645 in two of six deaths due to left ventricular hypoplasia. Severe pulmonary hypertension occurred in the postoperative period in two patients, and two patients had heart failure following a previous operation for coarctation or interruption of the aorta. Since hypotension during induction is detrimental in these cases, ketamine was commonly used as an induction agent. Morphine was chosen rather than fentanyl to avoid bradycardia. Administration of CA drugs produced an inotropic effect on the heart, and NTG helped maintain coronary blood flow and prevented pulmonary hypertension. There were no anesthetic deaths as judged by both the surgeons and anesthesiologists.

[Learning and prototype formation of artificial categories defined by multidimensional normal distributions].

In order to approximate the variety of natural categories, two kinds of stimuli whose attributes vary according to different multivariate normal distributions are generated on CRT screen. Twenty undergraduate and graduate students served as subjects. Subject's task was to discriminate the stimuli. Results revealed that subject's performance can be explained very well by the parameters of the distributions (Exp.1). Although in previous studies prototypes have been assumed to be the mean value or central tendency of category instances, there is another possibility, especially when two or more concepts are simultaneously learned, that they have attributes which are emphasized. This hypothesis was confirmed in Exp.2, using 30 undergraduates as subjects. It was argued that we must distinguish at least two kinds of prototypes: the one formed by the most frequent instances and the other the most discriminate in contrast with the other concepts.

Collagen and glycosaminoglycans in the human ovarian capsule with polycystic ovarian disease.

Connective tissue of human ovarian capsule with polycystic ovarian disease (PCO) is analyzed. The connective tissue components of the capsule were found to mainly consist of type I collagen and acid glycosaminoglycans, such as dermatan sulfate, heparan sulfate, and chondroitin 4- and 6-sulfate. Although their concentration and constituent ratio in the PCO capsule are found to be similar to those in the normal, their total amounts in whole capsule with PCO are higher than in normal ones, because of the enlarged ovary and the thickened capsule. Furthermore, collagen solubility for pepsin in the PCO capsule is larger than that in the normal one. The results suggest that the activation of connective tissue metabolism in the ovarian capsule is one of the factors of anovulation in PCO.