bluuebunny/crossref_metadata_2025_split huggingface dataset:
Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: Histological observation and comparison of genotypes and clinical phenotypes
Authors: KONDO Taisuke , SUZUKI Tamio , MITSUHASHI Yoshihiko , ITO Shiro , KONO Michihiro , KOMINE Mayumi , AKITA Hirotaka , TOMITA Yasushi 
Published: July 2008

ABSTRACTDyschromatosis symmetrica hereditaria (DSH), is a pigmentary genodermatosis of autosomal dominant inheritance. Since we clarified that the disease is caused by a mutation of the adenosine deaminase acting on the RNA 1 gene (ADAR1) in 2003, the molecular pathogenesis of a peculiar clinical feature of the disease has been expected to be clarified. We examined five familial cases and one sporadic case of Japanese families with DSH. The mutation analyses were done with single‐strand conformation polymorphism/heteroduplex (SSCP/HD) analysis and direct sequencing of ADAR1. The DNA analysis of each patient revealed one missense mutation (p.F1091S), two nonsense mutations (p.C893X, p.S581X) and three frame‐shift mutations (p.E498fsX517, p.F1091fsX1092, p.L855fsX856). Visual and electron microscopic findings showed abundant melanin pigment deposited all over the basal layer, and enlarged melanocytes with long dendrites located in the pigmented lesions with small or immature melanosomes scattered sparsely in the cytoplasm, but in the adjacent keratinocytes many small melanosomes were singly dispersed or aggregated. The hypopigmented areas showed little melanin deposition and reduced numbers of melanocytes in which much degenerative cytoplasmic vacuole formation could be observed by electron microscopy. Herein, we report six cases of DSH with six novel mutations. The variety of their clinical phenotypes even in the pedigree may suggest the presence of factors other than the ADAR1 gene influencing the extent of the clinical skin lesion. Microscopic findings suggest that the clinical appearance must have developed directly by melanocyte variations mainly induced by the ADAR1 gene mutations.
Role of foods in irregular aggravation of skin lesions in children with atopic dermatitis
Authors: UENISHI Toshiaki , SUGIURA Hisashi , TANAKA Toshihiro , UEHARA Masami 
Published: July 2008

ABSTRACTAtopic dermatitis is a common inflammatory skin disease that especially affects children and adolescents. Many environmental factors have been recognized as relevant in aggravating skin lesions of the disease. However, it remains to be determined whether foods play a role in worsening of skin lesions in children with atopic dermatitis. In the present study, we investigated whether foods play a role in irregular aggravation of skin lesions in children with the disease. The study population consisted of 69 patients aged 3–15 years with atopic dermatitis. They were hospitalized and open challenge tests were performed with suspected foods. Photographs of representative skin lesion sites were taken at baseline and before and after the challenge. We determined challenge‐positive foods by evaluating the comparable before/after challenge photographs. One to three (average, 1.9) challenge‐positive foods were confirmed in 52 (75%) of the 69 patients examined. Predominant offending foods were chocolate, cheese and yogurt. Specific immunoglobulin E values to offending foods were mostly negative. We asked patients to exclude challenge‐positive foods from their diets. They were then discharged and followed up for 3 months at our outpatient clinic. Exclusion of the offending foods for 3 months brought about a remarkable improvement in the disease. These results suggest that foods play an important role in irregular aggravation of skin lesions in children with atopic dermatitis.
Prevalence of skin diseases among pediatric patients in Turkey
Authors: TAMER Emine , ILHAN Mustafa N. , POLAT Muhterem , LENK Nurdan , ALLI Nuran 
Published: July 2008

ABSTRACTThe pediatric population is composed of persons under 16 years of age, and few studies are available on the dermatological diseases of this group. In the present study, data on a total of 6300 pediatric patients admitted between the years 2004–2006 were analyzed. Hospital‐based patient registry records were used for data collection. The data were analyzed according to age, sex and time of admittance. A female preponderance (53%) was observed, and adolescents (12–16 years old) constituted the largest group within the patient population (47.6%). A total of 125 dermatoses were recorded. Acne vulgaris was the most prevalent dermatosis (12.4%), followed by atopic dermatitis (11.8%), contact dermatitis (11.3%), warts (9.5%), seborrheic dermatitis (4.3%) and impetigo (4.1%). Atopic dermatitis was the most frequently seen dermatosis in both infants and preschool‐age children, whereas contact dermatitis was more prevalent in school‐age children, and acne vulgaris was more prevalent in the adolescent group. The frequencies of some diseases showed seasonal variations. Acne vulgaris, atopic dermatitis, contact dermatitis, psoriasis, xerosis and alopecia areata were more common in winter. In contrast, insect bites, vitiligo, dyshidrotic eczema, impetigo and tinea corporis were more common in summer. Studies of the pediatric population, which constitutes the cornerstone of the community, can play an important role in determining the policies of protective medicine and public health. New studies will help us to better understand the frequency of dermatological diseases in the pediatric population according to age, gender and season, and take precautions with regard to these conditions.
Expression of nestin in dermatofibrosarcoma protuberans in comparison to dermatofibroma
Authors: MORI Toru , MISAGO Noriyuki , YAMAMOTO Osamu , TODA Shuji , NARISAWA Yutaka 
Published: July 2008

ABSTRACTMaking a differential diagnosis to distinguish dermatofibrosarcoma protuberans (DFSP) from dermatofibroma (DF) is occasionally difficult. In those instances, CD34 and factor XIIIa have been used as valuable differential markers. The histogenesis of DFSP, however, remains uncertain and controversial, although it is generally thought to be a neuromesenchymal neoplasm. Nestin is an intermediate filament protein that was first observed in neuroectodermal stem cells. We investigated the expression of nestin in order to distinguish between DFSP and DF in combination with the use of conventional markers, CD34 and factor XIIIa. The nestin expression was investigated in tissue specimens from 16 DFSP cases and 30 DF cases. The expression of other differential markers such as CD34, factor XIIIa, CD163 and CD10 was also observed in these samples. Fifteen (94%) of 16 cases of DFSP showed the expression of nestin, whereas only four (13%) of 30 cases of DF showed the expression of nestin. Most of the DFSP cases showed a diffuse positive reaction in more than half of the tumor cells. In contrast, DF cases with nestin expression showed a partial positive reaction. Nestin is considered to be a useful and additional marker in combination with CD34, factor XIIIa and CD163 in order to distinguish between DFSP and DF. The frequent expression of nestin in DFSP may therefore indicate that DFSP is derived from putative, multipotent neuromesenchymal cells.1
Dermatological legal claims in Japan
Authors: OGAWA Sachiko , ISOGAWA Naoyuki , USHIRO Shin , AYUZAWA Junko , FURUE Masutaka 
Published: July 2008

ABSTRACTHealth‐care safety management has recently been highlighted for patient safety. However, specialist‐based risks in clinical settings have hardly been discussed in Japan so far. A review of dermatological legal claims may delineate these risks. This study examined court precedents from the databases “Courts in Japan” and LEX/DB. Thirty‐four dermatology‐related civil cases were found from 1968–2006. Of the 34 cases, 32 (94%) were judged and two (6%) were retried. Of these 32 cases, 11 (34%) were appealed to higher courts. Among the 34 litigations, the defendants of eight (23%) were dermatology specialists, 20 (59%) were non‐dermatologists and six (18%) of unknown specialty. The defendants’ negligence was determined at either level in court in 25 of the 34 cases. The negligence in these 25 cases was categorized into five groups: (i) delayed diagnosis (none); (ii) complication during diagnosis procedure (one, 4%); (iii) inappropriate treatment (nine, 36%); (iv) complication during treatment procedure (10, 40%); and (v) insufficient informed consent (five, 20%). The present study may help to improve strategies for health‐care safety management in the dermatological field in Japan.
Case of linear immunoglobulin A bullous dermatosis associated with acquired hemophilia
Authors: ARAKAKI Osao , YAMAMOTO Yu‐ichi , AWAZAWA Ryoko , NONAKA Kimiko , TAIRA Kiyohito , ASATO Yutaka , HAGIWARA Keisuke , OYAMA Bungo , ISHII Norito , HASHIMOTO Takashi , UEZATO Hiroshi 
Published: July 2008

ABSTRACTLinear immunoglobulin (Ig)A bullous dermatosis is a rare autoimmune subepidermal bullous dermatosis caused by circulating IgA autoantibodies directed against the antigens at the basement membrane zone. Most linear IgA bullous dermatosis cases are idiopathic, but some are associated with the use of certain drugs, infections, lymphoproliferative disorders, internal malignancies, autoimmune disorders, collagen diseases or, very rarely, other skin diseases, including autoimmune bullous diseases. Acquired hemophilia is also rare; it is a coagulation disease caused by anti‐factor VIII IgG antibodies. Acquired hemophilia has been reported to be associated with malignant tumors, pregnancy or postpartum, drug reactions, collagen diseases such as rheumatoid arthritis, autoimmune disorders, and skin diseases such as psoriasis and pemphigus. We report a case of hemophilia acquired during the course of linear IgA bullous dermatosis and review reported cases of autoimmune bullous dermatoses associated with acquired hemophilia.
Successful treatment with bosentan for refractory digital ulcers in a patient with systemic lupus erythematosus
Authors: NAGAI Yayoi , SHIMIZU Akira , ISHIKAWA Osamu 
Published: July 2008

ABSTRACTWe report a 32‐year‐old woman with a 12‐year history of systemic lupus erythematosus. Physical examination revealed indurated plaques with small ulcers on her extremities and trunk, which were histologically diagnosed as lupus erythematosus profundus. On her arms and knees, multiple small calcified nodules were noted in the dermis and subcutis. An elevated level of anti‐phosphatidylserine/prothrombin antibodies was noted. She had been suffering from digital ulcers on the left fourth finger. Despite conservative therapies, new ulcers appeared on other fingers. After the administration of bosentan, no new lesion has developed. Bosentan, recognized as a choice of treatments for digital ulcers in systemic sclerosis, is worth trying in systemic lupus erythematosus patients with refractory digital ulcers.
Aggressive digital papillary adenocarcinoma on the palm with pulmonary metastases
Authors: NISHIMOTO Junko , AMOH Yasuyuki , NIIYAMA Shiro , TAKASU Hiroshi , KATSUOKA Kensei 
Published: July 2008

ABSTRACTA 41‐year‐old Japanese male had aggressive digital papillary adenocarcinoma with pulmonary metastases. He had an asymptomatic, solitary, dome‐shaped, skin‐colored firm nodule on his left palm for half year. The tumor consisted of multiple lobules of anaplastic epithelial cells with central necrosis. The neoplastic cells were immunohistochemically positive for cytokeratin and S‐100 protein. Two years after the lesion was removed, pulmonary nodular lesions were found on chest X‐ray. On histopathological examination, the pulmonary biopsy specimens showed lobular proliferation of acantholytic tumor cells and some ductal structures associated with papillary projections. Five years after the initial removal of the lesion, the patient was referred to our hospital because of a recurrent skin nodule on his left palm. The recurrent skin tumor was found to have lobular proliferation of anaplastic cells. On immunohistochemistry, the pulmonary metastasis and the palmar skin nodules were identical. The tumor was diagnosed as an aggressive digital papillary adenocarcinoma. This report is a rare case of aggressive digital papillary adenocarcinoma that was diagnosed based on the histopathology of the pulmonary metastases, which showed ductal structures associated with papillary projections.
Key findings from the WHO collaborative study on substitution therapy for opioid dependence and HIV/AIDS
Authors: Lawrinson Peter , Ali Robert , Buavirat Aumphornpun , Chiamwongpaet Sithisat , Dvoryak Sergey , Habrat Boguslaw , Jie Shi , Mardiati Ratna , Mokri Azarakhsh , Moskalewicz Jacek , Newcombe David , Poznyak Vladimir , Subata Emilis , Uchtenhagen Ambrose , Utami Diah S. , Vial Robyn , Zhao Chengzheng 
Published: July 2008

ABSTRACTAims  Opioid substitution treatment has been studied extensively in industrialized countries, but there are relatively few studies in developing/transitional countries. The aim of this study was to examine the effectiveness of opioid substitution treatment (OST) in less resourced countries.Design  Longitudinal cohort study.Setting  Purposively selected OST sites in Asia (China, Indonesia, Thailand), Eastern Europe (Lithuania, Poland, Ukraine), the Middle East (Iran) and Australia.Participants  Seven hundred and twenty‐six OST entrants.Measurements  Participants were interviewed at treatment entry, 3 and 6 months. Standardized instruments assessed drug use, treatment history, physical and psychological health, quality of life, criminal involvement, blood‐borne virus (BBV) risk behaviours and prevalence of human immunodeficiency virus (HIV) and hepatitis C.Findings  Participants were predominantly male, aged in their early 30s and had attained similar levels of education. Seroprevalence rates for HIV were highest in Thailand (52%), followed by Indonesia (28%) and Iran (26%), and lowest in Australia (2.6%). Treatment retention at 6 months was uniformly high, averaging approximately 70%. All countries demonstrated significant and marked reductions in reported heroin and other illicit opioid use; HIV (and other BBV) exposure risk behaviours associated with injection drug users (IDU) and criminal activity, and demonstrated substantial improvement in their physical and mental health and general wellbeing over the course of the study.Conclusions  OST can achieve similar outcomes consistently in a culturally diverse range of settings in low‐ and middle‐income countries to those reported widely in high‐income countries. It is associated with a substantial reduction in HIV exposure risk associated with IDU across nearly all the countries. Results support the expansion of opioid substitution treatment.
Mitigating risky sexual behaviors among Russian narcology hospital patients: the PREVENT (Partnership to Reduce the Epidemic Via Engagement in Narcology Treatment) randomized controlled trial
Authors: Samet Jeffrey H. , Krupitsky Evgeny M. , Cheng Debbie M. , Raj Anita , Egorova Valentina Y. , Levenson Suzette , Meli Seville , Bridden Carly , Verbitskaya Elena V. , Kamb Mary L. , Zvartau Edwin E. 
Published: July 2008

ABSTRACTAim  To assess the effectiveness of a sexual risk reduction intervention in the Russian narcology hospital setting.Design, setting and participants  This was a randomized controlled trial from October 2004 to December 2005 among patients with alcohol and/or heroin dependence from two narcology hospitals in St Petersburg, Russia.Intervention  Intervention subjects received two personalized sexual behavior counseling sessions plus three telephone booster sessions. Control subjects received usual addiction treatment, which did not include sexual behavior counseling. All received a research assessment and condoms at baseline.Measurements  Primary outcomes were percentage of safe sex episodes (number of times condoms were used ÷ by number of sexual episodes) and no unprotected sex (100% condom use or abstinence) during the previous 3 months, assessed at 6 months.Findings  Intervention subjects reported higher median percentage of safe sex episodes (unadjusted median difference 12.7%; P = 0.01; adjusted median difference 23%, P = 0.07); a significant difference was not detected for the outcome no unprotected sex in the past 3 months [unadjusted odds ratio (OR) 1.6, 95% confidence interval (CI) 0.8–3.1; adjusted OR 1.5, 95% CI 0.7–3.3].Conclusions  Among Russian substance‐dependent individuals, sexual behavior counseling during addiction treatment should be considered as one potential component of efforts to decrease risky sexual behaviors in this HIV at‐risk population.
Venlafaxine dependence in a patient with a history of alcohol and amineptine misuse
Authors: Quaglio Gianluca , Schifano Fabrizio , Lugoboni Fabio 
Published: July 2008

ABSTRACTBackground  Venlafaxine is an inhibitor of neuronal serotonin and noradrenaline re‐uptake and a weak inhibitor of dopamine re‐uptake. There was no indication of problems of abuse/dependence during the clinical trials.Case description  A 53‐year‐old client with a history of alcohol and amineptine misuse and a long history of recurrent depression, for which he was prescribed venlafaxine tablets. Over time, he increased the dosage to 50 tablets daily (3750 mg). Large venlafaxine dosages produced amphetamine‐like effects, due possibly to the related increase in dopamine turnover. Once hospitalized for detoxification, the patient had a symptomatology which was consistent with a serotonergic discontinuation syndrome.Conclusions  Physicians should be aware that patients with a history of drug and alcohol abuse might develop venlafaxine dependence.
Relationship between white matter volume and cognitive performance during adolescence: effects of age, sex and risk for drug use
Authors: Silveri Marisa M , Tzilos Golfo K. , Yurgelun‐Todd Deborah A. 
Published: July 2008

ABSTRACTAim  Familial drug abuse history has been shown to have an impact on cognitive development during adolescence. The present study examined the relationship between white matter volume and cognitive processing speed in adolescents with and without a familial substance abuse history.Participants  The sample comprised 33 female and male adolescents stratified by risk (family history positive, FH+) and low‐risk (FH−) groups.Measurements  Gray and white matter volumes were measured by segmenting magnetic resonance imaging (MRI) data. The neurocognitive test battery included tests that assessed processing speed, verbal ability and mental flexibility.Findings  Age‐related differences in neuropsychological functioning were seen but did not differ by risk group status, although there was some evidence for an age × gender effect. Information processing speed (digit symbol and Stroop word color naming) was correlated significantly with white matter volume; however, this pattern was observed only in FH− females. Cognitive performance and tissue volumes did not differ significantly between risk groups.Conclusions  Age‐related differences in neuropsychological functioning were seen that might, in larger samples, prove to be related to risk for substance abuse in adolescents who have not yet initiated drug use.
The effects of different analgesic regimens on transcutaneous CO2 after major surgery
Authors: McCormack J. G. , Kelly K. P. , Wedgwood J. , Lyon R. 
Published: July 2008

SummaryVentilatory impairment may be detected by a rise in transcutaneous carbon dioxide levels (PtcCO2). This observational study assessed the clinical utility of PtcCO2 monitoring in the postoperative period, and quantified the effect of different peri‐operative analgesic regimens on postoperative respiratory function. Following pre‐operative baseline PtcCO2 recording, continuous PtcCO2 monitoring was performed in 30 patients after major colorectal surgery for up to 24 h. Mean postoperative values of PtcCO2 were 1.3 kPa (95% CI 1.0–1.5) higher than pre‐operative values (p < 0.001). Patients receiving intravenous opioid patient controlled analgesia had a significantly higher elevation in postoperative PtcCO2 compared to patients receiving epidural infusion analgesia, 1.8 kPa (CI 1.5–2.1) vs 0.7 kPa (CI 0.5–0.9) respectively (p < 0.001). The mean rise in PtcCO2 following a single intravenous bolus of morphine delivered via PCA was 0.05 kPa (SEm 0.01), peaking at 12 min post‐dose. The transcutaneous capnometer successfully recorded data for 98% of the total time it was applied to patients.
Significance of the injection timing of ephedrine to reduce the onset time of rocuronium
Authors: Han D. W. , Chun D.‐H. , Kweon T. D. , Shin Y.‐S. 
Published: July 2008

SummaryWe postulated that the onset time of rocuronium can be accelerated effectively if it is administered at the time when the effect of ephedrine on cardiac output has reached its maximum. Seventy‐five male, anaesthetised, patients were randomly allocated to three groups. Ephedrine 70 μg.kg−1 was administered at 4 min (Early) or 30 s (Late) before administering rocuronium. The control group received saline at 4 min and at 30 s before rocuronium. The onset time of rocuronium in the Early group was significantly shorter than in the Control group, but there was no difference in the onset time between the Late and Control groups. There were no significant differences in the intubating conditions of the three groups. Ephedrine 70 μg.kg−1 can reduce the onset time of rocuronium effectively if rocuronium is administered at 4 min following the ephedrine injection, when the effect of ephedrine on cardiac output is expected to reach its maximum.
Anaesthesia for high intensity focused ultrasound (HIFU) therapy
Authors: Yao C.‐L. , Trinh T. , Wong G. T. C. , Irwin M. G. 
Published: July 2008

SummaryHigh intensity focused ultrasound (HIFU) is a treatment modality for tissue ablation with an expanding range of indications. It is helpful to understand its basic principles, the physiological changes induced, and the pathophysiology of the patient groups undergoing HIFU. HIFU is usually performed in a radiology suite, and requires co‐ordinated efforts between the radiologist/surgeon and anaesthetist during ablation therapy to enhance accuracy of treatment and patient safety. Planning of the equipment, ventilation strategies and drugs needed during the procedure would reduce potential anaesthetic and procedure‐related complications.
Distinguishing salt welds from shale detachments on the inner Texas shelf, western Gulf of Mexico
Authors: McDonnell Angela , Hudec Michael R. , Jackson Martin P. A. 
Published: July 2008

ABSTRACTDetachment surfaces have important implications for structural restoration, burial‐history and thermal modeling, hydrocarbon migration, and diagenesis. We present criteria to distinguish salt welds from shale detachments based on geophysical data from the inner Texas shelf. Here, the Paleogene detachment has been variously interpreted as salt or shale by different people. A newly reprocessed 8200 km2 (3200 mi2) 3D seismic volume provides excellent imaging of this detachment, which separates growth‐faulted Oligocene–Miocene strata from the underlying, gently folded Cretaceous–Eocene section. Key criteria to evaluate detachment origins include seismic amplitude response, geometry, and relationship to supradetachment and subdetachment reflections. We argue that the detachment is a salt weld because (a) it is imaged as a high‐amplitude, discrete reflection; (b) it has a ramp‐flat geometry, cutting across underlying reflections; (c) it locally forms bowl‐shaped depotroughs interpreted as former diapiric salt feeders; (d) it is overlain by seismically incoherent pods having high‐amplitude tops and bases interpreted as remnant salt; and (e) in the depotroughs associated with former diapiric salt feeders the detachment has hints of upturned strata just beneath (possible halokinetic sequences). The inferred weld represents the evacuated remains of a patchy salt canopy emplaced across the study area during the Late Eocene to Early Oligocene. Preliminary examination beyond our study area suggests that this discontinuous canopy may have extended across most of the modern Texas shelf. Most of the salt was expelled from the canopy by loading from prograding Oligo–Miocene deltaic deposits.