Physical, oral, and swallowing functions of three patients with type a xeroderma pigmentosum: a report of three cases.

BACKGROUND: Xeroderma pigmentosum (XP) is an extremely rare and severe form of photosensitivity. It is classified into types A-G or V according to the gene responsible for the disease. The progression and severity of symptoms vary depending on the type. Although dysphagia caused by decreased swallowing function and dental malposition due to stenosis of the dentition in the facial and oral regions is common, it has not been reported in detail. We report three cases of type A XP, in which central and peripheral neurological symptoms appeared early on and progressed rapidly. We describe the oral function of these patients, focusing on the swallowing function and dentition malposition. CASE PRESENTATION: Two males (27 and 25 years old) and one female (28 years old) presented with diverse neurological symptoms. We focused on the relationship between the changes in swallowing and oral functions and conditions due to decline in physical function. Some effects were observed by addressing the decline in swallowing and oral functions. In particular, a dental approach to manage the narrowing of the dentition, which was observed in all three patients, improved the swallowing and oral functions and maintained the current status of these functions. CONCLUSIONS: In type A XP, early decline in oral and swallowing functions is caused by the early decline in physical function, and it is necessary to monitor the condition at an early stage.

At-Home Orthodontic Treatment for Severe Teeth Arch Malalignment and Severe Obstructive Sleep Apnea Syndrome in a Child with Cerebral Palsy.

Children with cerebral palsy typically have severe teeth arch malalignment, causing swallowing and respiration dysfunction. Malalignment in cerebral palsy, especially in children, worsens dysphagia and respiratory disorders; sometimes, it is also noted with obstructive sleep apnea. However, no study has reported on the improvement in obstructive sleep apnea after at-home orthodontic treatment in children with cerebral palsy. We herein present a pediatric case of cerebral palsy wherein obstructive sleep apnea improved with at-home orthodontic treatment for malalignment. We administered at-home orthodontic treatment to a 15-year-old boy with quadriplegia, due to spastic-type cerebral palsy, having no oral intake, obstructive sleep apnea, and teeth arch malalignment. After treatment, a decline in the severity of sleep apnea was observed. Perioral muscle hypertension and oral intake difficulties cause maxillary protrusion, narrowed teeth arch, and tilting of teeth in children with cerebral palsy. We expanded the oral cavity volume by orthodontic treatment to relieve muscle hypertension and correct the tongue position, thereby remarkably improving obstructive sleep apnea. Our findings suggest that at-home orthodontic treatment for malalignment effectively improves perioral muscle hypertension, glossoptosis, and obstructive sleep apnea.

Reactions of 3',5'-di-O-acetyl-2'-deoxyguansoine and 3',5'-di-O-acetyl-2'-deoxyadenosine to UV light in the presence of uric acid.

INTRODUCTION: Recently, it was revealed that uric acid is a photosensitizer of reactions of nucleosides on irradiation with UV light at wavelengths longer than 300 nm, and two products generated from 2'-deoxycytidine were identified. In the present study, UV reactions of acetylated derivatives of 2'-deoxyguansoine and 2'-deoxyadenosine were conducted and their products were identified. FINDINGS: Each reaction of 3',5'-di-O-acetyl-2'-deoxyguansoine or 3',5'-di-O-acetyl-2'-deoxyadenosine with UV light at wavelengths longer than 300 nm in the presence of uric acid generated several products. The products were separated by HPLC and identified by comparing UV and MS spectra of the products with previously reported values. The major products were spiroiminodihydantoin, imidazolone, and dehydro-iminoallantoin nucleosides for 3',5'-di-O-acetyl-2'-deoxyguansoine, and an adenine base and a formamidopyrimidine nucleoside for 3',5'-di-O-acetyl-2'-deoxyadenosine. CONCLUSIONS: If these damages caused by uric acid with sunlight occur in DNA of skin cells, mutations may arise. We should pay attention to the genotoxicity of uric acid in terms of DNA damage to dGuo and dAdo sites mediated by sunlight.

Uric Acid as a Photosensitizer in the Reaction of Deoxyribonucleosides with UV Light of Wavelength Longer than 300 nm: Identification of Products from 2'-Deoxycytidine.

DNA reacts directly with UV light with a wavelength shorter than 300 nm. Although ground surface sunlight includes little of this short-wavelength UV light due to its almost complete absorption by the atmosphere, sunlight is the primary cause of skin cancer. Photosensitization by endogenous substances must therefore be involved in skin cancer development mechanisms. Uric acid is the final metabolic product of purines in humans, and is present at relatively high concentrations in cells and fluids. When a neutral mixed solution of 2'-deoxycytidine, 2'-deoxyguanosine, thymidine, and 2'-deoxyadenosine was irradiated with UV light with a wavelength longer than 300 nm in the presence of uric acid, all the nucleosides were consumed in a uric acid dose-dependent manner. These reactions were inhibited by the addition of radical scavengers, ethanol and sodium azide. Two products from 2'-deoxycytidine were isolated and identified as N4-hydroxy-2'-deoxycytidine and N4,5-cyclic amide-2'-deoxycytidine, formed by cycloaddition of an amide group from uric acid. A 15N-labeled uric acid, uric acid-1,3-15N2, having two 14N and two 15N atoms per molecule, produced N4,5-cyclic amide-2'-deoxycytidine containing both 14N and 15N atoms from uric acid-1,3-15N2. Singlet oxygen, hydroxyl radical, peroxynitrous acid, hypochlorous acid, and hypobromous acid generated neither N4-hydroxy-2'-deoxycytidine nor N4,5-cyclic amide-2'-deoxycytidine in the presence of uric acid. These results indicate that uric acid is a photosensitizer for the reaction of nucleosides by UV light with a wavelength longer than 300 nm, and that an unidentified radical derived from uric acid with a delocalized unpaired electron may be generated.

Dysphagia in a persistently vegetative patient improved by orthodontic treatment of severe dental misalignment.

INTRODUCTION: We describe the treatment of severe dysphagia in a patient left in a persistent vegetative state after an episode of hypoxic-ischemic encephalopathy following a traffic accident. CASE REPORT: A 38-year-old man was in a persistent vegetative state since a traffic accident in 2005, which resulted in cardiopulmonary arrest and hypoxic-ischemic encephalopathy. His airway had been secured with a tracheostomy, and a gastric tube had been inserted; however, he continued to suffer from urinary tract infections, glossoptosis, and silent aspiration of saliva. Both the maxilla and mandible had very narrow dental arches, with the mandibular incisors exhibiting severe lingual inclination. COURSE: We first corrected the dentition in the narrow maxillary arch, followed by the mandibular arch. As the dental alignment improved, tongue movements appeared during oral care, and endoscopy also revealed signs of an active saliva swallowing reflex. DISCUSSION: The "training approach" generally used to treat severe dysphagia is usually impossible in persistently vegetative patients. In our patient, the tongue movements and saliva swallowing reflex appeared after we expanded the narrow dental arches, suggesting that an orthodontic approach can be effective in such cases. Our findings can be applied to similar cases of vegetative patients to facilitate better oral care and outcomes.

[Actual situation and social prognosis of women seeking psychiatric care at the emergency hostel of Tokyo Metropolitan Women's Counseling Center].

The emergency hostel of Tokyo Metropolitan Women's Counseling Center, established in 1957, provides protection and care for about 600 Japanese or foreign women per year. The women housed there need social support for various reasons such as prostitution, poverty, somatic or mental diseases, or domestic violence (DV). We investigated the sociodemographic characteristics, psychiatric diagnoses and social prognoses of 2667 women who consulted the psychiatric clinic in the emergency hostel between 1961 and 1997. Seventy-four women consulted the psychiatric clinic per year, on average. Most were aged between 20 and 49. During the study period, there was a gradual decline in the number referred through the prostitution prevention law. Psychiatric diagnoses at the first visit varied widely. Annual comparison showed a gradual decrease in schizophrenia and manic-depressive illness, but an increase in substance abuse, psychogenic reaction, and personality disorder. Sociodemographically, most subjects appeared to have been children from underprivileged backgrounds. The social prognoses of 930 cases judged in March 1998 were good in 25%, moderate in 23% and poor in 48%. The poor prognosis group contained significantly more women with schizophrenia and personality disorder than the other two groups. The poor prognosis group tended to include more cases of substance abuse, while the good prognosis group contained more cases of depression and mental retardation. Women in the DV group tended to have more children than those in the non-DV group, and to have a higher prevalence of psychogenic reaction and a lower prevalence of schizophrenia. The DV group also tended to include more subjects with a moderate social prognosis and fewer subjects with a poor social prognosis. Specialized treatment should be provided for women after emergency admission to the hostel and this treatment needs to be aimed at improving social adaptation of the hostel residents, especially those with schizophrenia, personality disorders and substance abuse. Victims of DV should receive more conscious attention. In particular, prevention of mental disorders should be aimed not only at the residents but also their children.