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Li-Fraumeni syndrome(LFS)is the autosomal-dominant familial cancer predisposition syndrome. The criteria for it have already been defined, and most patients with this syndrome have been identified with germline mutations in the p53 tumor suppressor gene(TP53). More recently, the feasibility and potential clinical effect of a comprehensive surveillance of asymptomatic TP53 mutation carriers of this syndrome are being shown. However, the prevention and treatment recommendations for cancer, and the support system for LFS, are insufficient. In the future, patients with this syndrome require more developed medical treatment because they and their families have profound medical issues and psychosocial distress.

Background: The QOL questionnaire version 2001 for pediatric patients with bronchial asthma and their parents or caregivers includes 15 questions for patients under the age of 4 years and 20 questions for patients over the age of 4 years. We have already reported that the QOL questionnaire version 2001 reflects reliability (including reproducibility), factorial validity, and changes in paroxysmal attacks of asthma. In this study, we revised the questionnaire for use in routine medical practice., Methods and Results: In this study, based on the data of a previous report, the number of questions was reduced further and it was revised to the questionnaire the short form by integrated data. The revised version 2008 (Gifu) consisted of emotional burden, asthma attack, instability of symptoms and proper acceptance of asthma as a common factor, moreover 4 or more years old added load of exercise factor which consisted of two questions in each factor. This QOL short form questionnaire version 2008 (Gifu) is a disease specific questionnaire in comparison with health control, bronchial asthma and non-asthmatic patients, such as atopic dermatitis and allergic rhinitis., Conclusion: Although Cronbach's alpha fell with reduction of the number of questions, we conclude that it was acceptable in the clinical practice.

We performed a questionnaire study on psychological problems in home medical care, including mechanical ventilation, oxygen therapy, continuous ambulatory peritoneal dialysis and parenteral nutrition, for children with chronic illnesses in Osaka prefecture, Japan. One hundred two pediatricians (46%) answered the questionnaire. The majority of the doctors regarded psychological support for the children and their families as an important issue. In some cases, home medical care was interrupted because of psychological problems such as psychological burden, anxiety and stress of the children and/or their families. And some other cases, home medical care was impossible because of parental refusal to treatment and/or their child. The cases with mechanical ventilation and oxygen therapy mainly accounted for these cases. Since the number of cases undergoing home medical care is estimated to increase in the future, medical staff should be more aware of psychological support for the families as well as their children.

We experienced a case of acute necrotizing encephalopathy of childhood with a good outcome. The disease continued for about three weeks, and the patient recovered with a sequela of mild left-hemiparesis. On the brain magnetic resonance imaging, abnormal intensity areas in the thalamus and putamen reduced size at an early stage of the disease. After 1 year, his mental and motor development seemed to be almost normal, but brain single photon emission computed tomography and electroencephalography were abnormal. Subclinical functional abnormalities persisted longer than had been expected.

Recent advances in medical technology, such as an assisted ventilation, have made a big impact on pediatrics. With such a progress, many children with intractable diseases have survived intact. On the other hand, chronically ill children with handicaps have also been increasing. Some of them have been artificially supported by a respirator to maintain life in a hospital or at home. Under these social conditions, we should establish a system for total care of these children, to promote their quality of lives, in collaboration with medicine, health & welfare, and education.

The prognostic significance of cerebral myelination was evaluated with magnetic resonance imaging (MRI) in very low birth weight infants. Myelination was graded in two specified sites, optic radiation and corpus callosum, based on the stages of normal term babies and healthy premature infants. The subjects were 30 preterm infants weighing less than 1,500 gm at birth. MRI was performed at 4 to 7 months (corrected age). The normal myelination stage was seen in 18 cases, while a delayed stage was noticed in 12 cases. In the normal myelination group, only 1 case (6%) had handicaps. In the delayed myelination group, 8 cases (67%) had handicaps. Our results showed that delayed myelination was closely related to a poor prognosis. We believe that MRI would be a very good imaging modality for predicting the outcome of very low birth weight infants, particularly in terms of evaluation of myelination.

Children who require prolonged respiratory support often have to spend their whole lives in the hospital. It is important, however, for these children to have time with their families in their own homes. Home mechanical ventilation can make it possible. In Japan, the concept of home mechanical ventilation has just begun to open up. We reported five cases of home mechanical ventilation for children by using a portable respirator (Bennett, Companion 2800). Two cases of these were patients with hypoxic ischemic encephalopathy. The others were cases with neuro-muscular diseases (Werdnig-Hoffmann disease, mitochondrial myopathy, myotubular myopathy). Before taking the patients out, parents received a training in nursing procedures and in skillful use of the ventilator and equipment. The patients went out on excursions 17 times, and were released for home stay a total of 25 times. Initially, 12 excursions were undertaken with doctors or nurses in attendance; later, however, all of the home stays and 5 of the excursions were carried out successfully by the family only. They went to places such as their own home, a park, a zoo, an aquarium and a museum. The average time was 4.6 hours (3-8 hours) for excursions, and 1.8 days (1-7 days) for home stays. Questioning of family revealed that home mechanical ventilation accelerated the social and emotional development of these children whose condition necessitated respiratory support, especially patients with neuro-muscular diseases. It also revealed that family could accept the patient as a member with more familiarity and with more ease.(ABSTRACT TRUNCATED AT 250 WORDS)