{"title":"[Beta-mannosidosis].","authors":"S. Yamaguchi","doi":"10.32388/xjusko","DOIUrl":"https://doi.org/10.32388/xjusko","url":null,"abstract":"Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with betamannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be extremely introverted, prone to depression, or have behavioral problems such as hyperactivity, impulsivity or aggression.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"9 1","pages":"458-9"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87408886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Acromegaloid facial appearance syndrome].","authors":"M. Matsuo","doi":"10.32388/g8qkvj","DOIUrl":"https://doi.org/10.32388/g8qkvj","url":null,"abstract":"Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"10 1","pages":"134"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80520123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Fragile X syndrome].","authors":"T. Arinami","doi":"10.32388/5uhty6","DOIUrl":"https://doi.org/10.32388/5uhty6","url":null,"abstract":"14 West WHL, Lounsbach GR, Bourgeois C, et al. Biological activity, binding site and affinity of monoclonal antibodies to the fusion protein of respiratory syncytial virus. J Gen Virol 1994 (in press). 15 Toms GL. Vaccination against respiratory syncytial virus: problems and progress. FEMS Microbiol Immunol 1991; 76: 243-56. 16 Anderson U. Strains of respiratory syncytial virus: implications for vaccine development. In: de la Maza LM, Peterson EM, eds. Medical virology 9. New York: Plenum Press, 1990: 187-205. 17 Cane PA, Matthews DA, Pringle CR. Analysis of relatedness of subgroup A respiratory syncytial viruses isolated worldwide. Virus Res 1992; 25: 15-22. 18 Beem M. Repeated infections with respiratory syncytial virus. J Immunol 1967; 98: 1115-22. 19 Robinson BS, Everson JS. Epitopic specificities of human serum antibodies reactive with respiratory synctial virus fusion protein. Arch Virol 1992; 125: 273-86. 20 Prince GA, Horswood RL, Koenig DW, Chanock RM. Antigenic analysis of a putative new strain of respiratory syncytial virus. Jf Inf Dis 1985; 151: 634-7. 21 Johnson PR, Olmsted RA, Prince GA, et al. Antigenic relatedness between glycoproteins of human respiratory syncytial virus subgroups A and B: evaluation of the contributions of F and G glycoproteins to immunity. J Virol 1987; 61: 3163-6. 22 Hendry RM, Burns JC, Walsh EE, et al. Strain specific serum antibody responses in infants undergoing primary infection with respiratory syncytial virus. JInfDis 1988; 157: 640-7. 23 Mufson MA, Belshe RB, Orvell C, Norrby E. Subgroup characteristics of respiratory syncytial virus strains recovered from children with two consecutive infections. J Clin Microbiol 1987; 25: 1535-9. 24 Tristram DA, Welliver RC. Respiratory syncytial virus vaccines: can we improve on nature? PediatrAnn 1993; 22: 715-8.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"50 1","pages":"434-7"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79416736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Central neurocytoma].","authors":"T. Ohnishi, T. Yoshimine","doi":"10.32388/ltj5sq","DOIUrl":"https://doi.org/10.32388/ltj5sq","url":null,"abstract":"Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"29 1","pages":"87-9"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80143689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Acrodysostosis].","authors":"T. Tohma","doi":"10.32388/04kw1a","DOIUrl":"https://doi.org/10.32388/04kw1a","url":null,"abstract":"Two unrelated males of 16 and 8 years of age with acrodysostosis were studied. They showed short stature, broad and hypoplastic nose and severe acromelic shortness. X-ray studies revealed bilateral brachymetacarpaly, brachymetatarsalia and brachyphalangia with hyperplasia of the first ray in hands and feet. Psychometric studies revealed an IQ of 85, the highest observed in the 22 cases so far reported. The variable expressivity of the syndrome is discussed on this basis. The hypothesis of an autosomal dominant \"de novo\" mutation as the cause of the entity is supported by the finding of increased paternal age.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"5 1","pages":"286-7"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87943518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Congenital analbuminemia].","authors":"M. Imaizumi","doi":"10.32388/1uvzo1","DOIUrl":"https://doi.org/10.32388/1uvzo1","url":null,"abstract":"Congenital analbuminemia (CAA) is a rare autosomal recessive disorder, characterized by the absence or very low level of serum albumin ( human serum albumin /HSA) as a result of defect on chromosome 4 which encodes albumin. It is defined as albumin level <1 g/l with normal liver function and the absence of protein loss. 1,2 Estimated CAA prevalence is less than 1 in 1 million. A 10-year-old boy suffered from generalized edema that got worsened since last month. The patient had been misdiagnosed with nephrotic syndrome 2 years earlier, and then became protein-losing enteropathy. Neither cough nor diarrhea were reported. The patient had history of food allergy. Physical examination showed moderately ill condition, Glasgow Coma Scale (GCS) score E 4 V 5 M 6 , blood pressure 90/50 mmHg, pulse 120 x/min, respiratory rate 30x/min, palpebral edema, shifting dullness, undulation (+), with nonpitting edema on the extremities. Laboratory findings: leukocytosis (neutrophilia), peripheral blood smear showed hypochromic microcytic anisositosis erythrocyte. AAT serum 246 mg/dl, GGT serum: 88 U/l, iron serum 28 µg/dl, TIBC 411 µg/dl, transferrin saturation 7%, total IgE 775,90 U/ml. Serum Protein Electrophoresis (SPE) results were hypoalbuminemia (1,4 g/dl), hypogammaglobulinemia (0,21 g/dl), and total protein 2,91 g/dl. Chest X-ray showed pneumonia with minimal right pleural effusion. overestimation of serum albumin level was caused by alpha and beta globulin that were detected as albumin in bromocresol green (BCG) methods. CAA aggravated with by allergy caused malnutrition in this patient. These data support the diagnosis of CAA with sepsis and iron deficiency anemia . Suggestion for the management consist of blood culture, procalcitonin level measurement, inguinal lymph node biopsy, DNA sequence analysis, also analysis of pleural and ascites fluid.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"77 1","pages":"557-60"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89524770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Bardet-Biedl syndrome].","authors":"N. Sakuragawa","doi":"10.32388/1sa5zo","DOIUrl":"https://doi.org/10.32388/1sa5zo","url":null,"abstract":"Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"19 1","pages":"155-8"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78703364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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