Infantile XX male: A case report

A case of infantile XX male syndrome with bilateral scrotal testes and penoscrotal hypospadias is presented. No evidence of XX/XY mosaicism or Y chromatin was obtained in preparations from cultures of the peripheral blood, skin fibroblast, or other tissues. Although true hermaphroditism was suspected, exploration of the bilateral gonadal structures failed to detect the presence of ovarian structures, either grossly or microscopically. Furthermore, exploratory laparotomy revealed no Mullerian structures. The difficulty of early diagnosis of XX males in infancy is emphasized.     

Effect of acute experimental influenza a virus pneumonia on concentration of alpha1-acid glycoprotein in mouse serum

In mice, the mean serum concentration of the acute-phase reactant alpha₁-acid glycoprotein increased 34–48% over 14 days following experimental induction of pneumonitis by intranasal inoculation of influenza A virus. Inoculation of undiluted (hemagglutination titer 640) and 10^–1 dilution of virus was followed by development of maximum concentrations of alpha₁-acid glycoprotein in serum at seven days, of 334g/ml, compared to a concentration in control mice inoculated with irradiated inactivated virus of 225g/ml (P=0.002). Infection with 10^–2 virus yielded a peak serum alpha₁-acid glycoprotein of 301g/ml at four days, 34% higher than in control mice at four days (P=0.04). There were no differences in alpha₁-acid glycoprotein concentrations among virus-infected mice. Influenza A virus pneumonitis was confirmed histologically, by virus isolation, and by serologic testing, but no inoculum-dependent differences were observed. On day 7, there was a direct relationship demonstrated between the severity of pneumonitis evaluated histologically and the serum alpha₁-acid glycoprotein concentration (r=0.50;P<0.02). Influenza A pneumonia in mice is associated with increased concentrations of alpha₁-acid glycoprotein in serum; the increase may be directly related to the severity of the pulmonary inflammation.     

Effects of pre-motion electromyographic silent period on dynamic force exertion during a rapid ballistic movement in man

Summary The effects of pre-motion silent period (PSP) on dynamic force exertion were studied in ten healthy subjects performing ballistic elbow extensions. The experiments were designed to evaluate the significance of mean differences between the averaged dynamic force curves of two groups: PSP-presence groups and PSP-absence groups. The presence of PSP was judged quantitatively and automatically by means of a newly developed method using statistical analysis. The results indicated that there were two effects of PSP on dynamic force exertion: one was a reducing effect, observed prior to the movement; the other was a reinforcing effect, observed in the first part of the ballistic movement. The duration of the reinforcement was significantly correlated with the duration of the reducing effect of PSP. The findings suggested that the reinforcement of dynamic force may be produced by the pre-stretch of agonistic muscles caused by prior force reduction due to PSP occurrence. The fact that PSP plays an important role in dynamic force exertion suggests that PSP may be incorporated in the central motor control system designed to interrupt the background activity, to stretch the agonist and to reinforce the dynamic force.     

New genome type of adenovirus serotype 19 causing nosocomial infections of epidemic keratoconjunctivitis in Japan

Twelve strains of adenovirus serotype 19, isolated from cases of epidemic keratoconjunctivitis in Japan in 1992, 1993, 1997, and 1998, were analyzed by DNA restriction analysis, using restriction endonucleases BamHI, BglI, BglII, EcoRI, HindIII, KpnI, PstI, SacI, SalI, SmaI, and XhoI. Among these 11 restriction endonucleases, EcoRI, PstI, SacI, and SmaI were discriminative enzymes, showing restriction patterns different from those reported previously for the prototype and the variant 19a. This new genome type was isolated in 1997 and 1998, when an increase of epidemic keratoconjunctivitis cases caused by adenovirus serotype 19 was observed for both sporadic and nosocomial infections. Strains from 1992 and 1993 showed restriction patterns similar to those of the worldwide reported variant 19a for all enzymes used. The changes detected in strains from 1997 and 1998 could be the reason for the recent epidemic.     

Survey of atopic dermatitis and skin barrier functions in Japanese and Chinese school students]

BACKGROUND: The comparative studies of the prevalence of atopic dermatitis and skin barrier functions in Japanese and Chinese were performed. METHODS: Clinical investigations were performed in 68 elementary school students in Lhasa, Tibet Autonomous Region and 67 students in Yixing, Jiangsu Province in China, and 99 students in Nishinomiya, Hyogo in Japan. Transepidermal water loss (TEWL) and capacitance were measured. Questionary survey about bathing frequency was also performed for students in Lhasa, Yixing and Osaka. RESULT: The prevalence rate of atopic dermatitis was 0% in Lhasa, 2.63% in Yixing, 4.26% in Nishinomiya. TEWL of students in Nishinomiya was higher than that in Yixing and Lhasa. Capacitance of students in Lhasa was lower than that in Nishinomiya and Yixing. The frequency of taking a bath in Lhasa was about 2.2 times per month and fewer than that in Nishinomiya and Yixing. CONCLUSION: There was tendency that the prevalence of atopic dermatitis increased according to increase of TEWL. It was thought that more investigations are necessary whether the development of habitat and environment influence the prevalence of atopic dermatitis and skin barrier function.     

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical,biochemical, and molecular genetic aspects

We report the clinical course and biochemical findings of a 10-year-old, mentally retarded girl with late-onset holocarboxylase synthetase (HCS, gene symbol HLCS) deficiency and only partial response to biotin. On treatment, even with an unusually high dose of 200mg/day, activities of the biotin-dependent mitochondrial carboxylases in lymphocytes remained below 50% of the mean control values. Not only urinary 3-hydroxyisovaleric acid excretion has been persistently elevated, but also plasma and, with even higher concentrations, cerebrospinal fluid 3-hydroxyisovaleric acid have not normalized. The unusual and insufficient response of this patient to biotin treatment can be explained by the effect of the combination of the common HLCS allele IVS10 +5 g>a on one chromosome and a truncating mutation on the other. This case illustrates mechanisms involved in the genotype-phenotype correlation that unequivocally exists in HCS deficiency.     

Enhancement of the B-cell response to Staphylococcus aureus Cowan strain 1 by natural human gamma interferon.

The requirements for a primary, antigen-specific in vitro immunization of human peripheral lymphocytes using haemocyanin, a T-cell dependent antigen, have been studied. In order to obtain a specific response in vitro the peripheral lymphocytes had to be separated into B, T, accessory (A) and dendritic (D) cells. These cells were activated and reconstituted to give a population with a B:T ratio of 1:2. If the induction was supported by MHC-restricted, radioresistant T cells, this cell population could then be antigen-specifically activated using haemocyanin. The immunization had also to be supported by cytokines, such as B-cell growth and differentiation factors, interleukin-2 and gamma-interferon. A 5-day in vitro immunization using 2 micrograms haemocyanin/ml resulted in 200-300 cells secreting anti-haemocyanin-specific antibodies per 10(6) B cells.     

Electron microscopic evidence of a viral nature for osteoclast inclusions in Paget's disease of bone

Circumstantial evidence from electron microscopic and immunological studies support the view that Paget's disease of bone represents a slow virus infection. However, there is only limited information available regarding its electron microscopic, enzyme and immunocytochemical characteristics. Two cases were studied using electron microscopy with particular emphasis on the inclusions in osteoclasts. Detailed ultrastructural and cytochemical studies including immuno-electron microscopy were performed. Some osteoclasts demonstrated specific virus-like structures composed of aggregations of microtubules in the nucleus and cytoplasm. The structures were easily digested by trypsin or protease, and were sensitive to RNase, which provided substantial evidence of a proteinaceous nature and inclusion of ribonucleic acid. Immunocytochemical examination identified binding of anti-respiratory syncytial virus and anti-measles virus antibodies in the tissue obtained from one of the two cases examined. The presence of viral antigens in structures in the cytoplasm of Pagetic osteoclasts supports the theory of paramyxovirus involvement in this disease.