F. Pérez Alvarez, S. Martínez Santana, C. Rodríguez
Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems.
{"title":"[Ellis-Van Creveld syndrome].","authors":"F. Pérez Alvarez, S. Martínez Santana, C. Rodríguez","doi":"10.32388/y9hqdv","DOIUrl":"https://doi.org/10.32388/y9hqdv","url":null,"abstract":"Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems.","PeriodicalId":7778,"journal":{"name":"Anales Espanoles De Pediatria","volume":"360 1","pages":"223-8"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77203519","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}
J. Flores Serrano, J. Carbonell Nadal, J. Pertierra de la Uz, A. Gómez Granell, J. Vilaplana Cantó
People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) may also occur. Bone lesions may become cancerous, but this happens in fewer than 1 percent of people with McCune-Albright syndrome.
{"title":"[McCune-Albright syndrome].","authors":"J. Flores Serrano, J. Carbonell Nadal, J. Pertierra de la Uz, A. Gómez Granell, J. Vilaplana Cantó","doi":"10.32388/w26yxf","DOIUrl":"https://doi.org/10.32388/w26yxf","url":null,"abstract":"People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) may also occur. Bone lesions may become cancerous, but this happens in fewer than 1 percent of people with McCune-Albright syndrome.","PeriodicalId":7778,"journal":{"name":"Anales Espanoles De Pediatria","volume":"40 2 1","pages":"267-70"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89604777","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}
Tympanometry provides useful quantitative information about the presence of fluid in the middle ear, mobility of the middle ear system, and ear canal volume. Its use has been recommended in conjunction with more qualitative information (e.g., history, appearance, and mobility of the tympanic membrane) in the evaluation of otitis media with effusion and to a lesser extent in acute otitis media. It also can provide useful information about the patency of tympanostomy tubes. Tympanometry is not reliable in infants younger than seven months because of the highly compliant ear canals of infants. Tympanogram tracings are classified as type A (normal), type B (flat, clearly abnormal), and type C (indicating a significantly negative pressure in the middle ear, possibly indicative of pathology). According to the Agency for Healthcare Research and Quality guidelines on otitis media with effusion, the positive predictive value of an abnormal (flat, type B) tympanogram is between 49 and 99 percent. A type C curve may be useful when correlated with other findings, but by itself it is an imprecise estimate of middle ear pressure and does not have high sensitivity or specificity for middle ear disorders.
{"title":"[Tympanometry].","authors":"D. Rosell Barberá, M. Cruz Caballero","doi":"10.1044/jshd.5304.354","DOIUrl":"https://doi.org/10.1044/jshd.5304.354","url":null,"abstract":"Tympanometry provides useful quantitative information about the presence of fluid in the middle ear, mobility of the middle ear system, and ear canal volume. Its use has been recommended in conjunction with more qualitative information (e.g., history, appearance, and mobility of the tympanic membrane) in the evaluation of otitis media with effusion and to a lesser extent in acute otitis media. It also can provide useful information about the patency of tympanostomy tubes. Tympanometry is not reliable in infants younger than seven months because of the highly compliant ear canals of infants. Tympanogram tracings are classified as type A (normal), type B (flat, clearly abnormal), and type C (indicating a significantly negative pressure in the middle ear, possibly indicative of pathology). According to the Agency for Healthcare Research and Quality guidelines on otitis media with effusion, the positive predictive value of an abnormal (flat, type B) tympanogram is between 49 and 99 percent. A type C curve may be useful when correlated with other findings, but by itself it is an imprecise estimate of middle ear pressure and does not have high sensitivity or specificity for middle ear disorders.","PeriodicalId":7778,"journal":{"name":"Anales Espanoles De Pediatria","volume":"204 1","pages":"35-7"},"PeriodicalIF":0.0,"publicationDate":"2020-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77407996","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}
M. Herrera Martín, F. Montejo Iglesias, T. Pàmpols, A. Franquet, P. Cuadrado Bello
A new case of Sandhoff disease is presented (gangliosidosis GM2 type II or variant O) with enzymatic study in serum and leukocytes from the patient, as well as in serum from the newborn's, father and mother. The clinical expression, enzymatic study and evolution are discussed comparing them with Tay-Sachs disease (gangliosidosis GM2 type I o variant B).
{"title":"[Sandhoff disease].","authors":"M. Herrera Martín, F. Montejo Iglesias, T. Pàmpols, A. Franquet, P. Cuadrado Bello","doi":"10.32388/269904","DOIUrl":"https://doi.org/10.32388/269904","url":null,"abstract":"A new case of Sandhoff disease is presented (gangliosidosis GM2 type II or variant O) with enzymatic study in serum and leukocytes from the patient, as well as in serum from the newborn's, father and mother. The clinical expression, enzymatic study and evolution are discussed comparing them with Tay-Sachs disease (gangliosidosis GM2 type I o variant B).","PeriodicalId":7778,"journal":{"name":"Anales Espanoles De Pediatria","volume":"89 1","pages":"688-92"},"PeriodicalIF":0.0,"publicationDate":"2019-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75626382","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}
Pub Date : 2019-02-13DOI: 10.3109/9780203450390-31
M. Gussinyé, B. Corcóstegui
{"title":"[Diabetic retinopathy].","authors":"M. Gussinyé, B. Corcóstegui","doi":"10.3109/9780203450390-31","DOIUrl":"https://doi.org/10.3109/9780203450390-31","url":null,"abstract":"","PeriodicalId":7778,"journal":{"name":"Anales Espanoles De Pediatria","volume":"99 1","pages":"38-40"},"PeriodicalIF":0.0,"publicationDate":"2019-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88973680","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}
Pub Date : 2017-09-09DOI: 10.1016/b978-0-323-44301-2.50410-9
P. A. Alcalá Minagorre, A. Zubiaur Cantalapiedra, J. M. Ronda Pérez, A. Herrero Galiana, D. López Bru, J. Flores Serrano
{"title":"[Ramsay-Hunt syndrome].","authors":"P. A. Alcalá Minagorre, A. Zubiaur Cantalapiedra, J. M. Ronda Pérez, A. Herrero Galiana, D. López Bru, J. Flores Serrano","doi":"10.1016/b978-0-323-44301-2.50410-9","DOIUrl":"https://doi.org/10.1016/b978-0-323-44301-2.50410-9","url":null,"abstract":"","PeriodicalId":7778,"journal":{"name":"Anales Espanoles De Pediatria","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2017-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76012714","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}
Pub Date : 2005-07-02DOI: 10.1142/9789812819963_0024
M. García Fuentes
{"title":"[Polyuria].","authors":"M. García Fuentes","doi":"10.1142/9789812819963_0024","DOIUrl":"https://doi.org/10.1142/9789812819963_0024","url":null,"abstract":"","PeriodicalId":7778,"journal":{"name":"Anales Espanoles De Pediatria","volume":"117 1","pages":"130-2"},"PeriodicalIF":0.0,"publicationDate":"2005-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79307242","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}
Pub Date : 2003-01-01DOI: 10.1007/978-3-662-04677-7_4
D. Métras, L. Viard, B. Kreitmann, A. Ribéri, J. Chazalette, J. Camboulives
{"title":"Lung transplantation in cystic fibrosis","authors":"D. Métras, L. Viard, B. Kreitmann, A. Ribéri, J. Chazalette, J. Camboulives","doi":"10.1007/978-3-662-04677-7_4","DOIUrl":"https://doi.org/10.1007/978-3-662-04677-7_4","url":null,"abstract":"","PeriodicalId":7778,"journal":{"name":"Anales Espanoles De Pediatria","volume":"40 1","pages":"33-43"},"PeriodicalIF":0.0,"publicationDate":"2003-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79050828","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}
M feminine H Vázquez Nieves Mf, F Sanisidro Vilasó, E Fluiters Casado, R Vázquez Gallardo
Background Epidemiological pattern of tuberculosis in Galicia is closer to that in developing countries than to that in Europe.ObjectivesThe aim of the present study was to determine the incidence and development of childhood tuberculosis, to analyze its clinical presentation and to quantify accurate diagnoses of pulmonary tuberculosis.MethodsObservational descriptive retrospective study in children aged 0-14 years old admitted to the Tuberculosis Unit of Vigo from 1 January 1995 to 31 December 1999.ResultsA total of 146 patients were included; 144 initial cases (98.63 %), one relapse (0.68 %), one withdrawal/recovery (0.68 %) and none with chronic disease or treatment failure. The incidence rate of tuberculosis showed no significant variations, changing from 46.08 x 5 in 1995 to 24.81 x 5 in 1998. The incidence rate was higher in younger children and was 111.38 x 5 in 1995 in children aged 0-4 years old. There were 78 boys (54.42 %) and 68 girls (46.75 %). A total of 51.36 % of the patients were from urban areas and 48.68 % were from rural areas. The most common location was the lung, with 132 cases (83.54 %). The diagnosis of pulmonary tuberculosis was accurate in 59 % of the patients and this percentage rose to 90.3 % in the group of patients aged 0-2 years old.ConclusionsIncidence of childhood tuberculous disease is high, especially in children aged 0-4 years old. A high percentage of diagnoses of pulmonary tuberculosis were accurate.
{"title":"[Incidence of childhood tuberculosis in southern Pontevedra (Spain)].","authors":"M feminine H Vázquez Nieves Mf, F Sanisidro Vilasó, E Fluiters Casado, R Vázquez Gallardo","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Background Epidemiological pattern of tuberculosis in Galicia is closer to that in developing countries than to that in Europe.ObjectivesThe aim of the present study was to determine the incidence and development of childhood tuberculosis, to analyze its clinical presentation and to quantify accurate diagnoses of pulmonary tuberculosis.MethodsObservational descriptive retrospective study in children aged 0-14 years old admitted to the Tuberculosis Unit of Vigo from 1 January 1995 to 31 December 1999.ResultsA total of 146 patients were included; 144 initial cases (98.63 %), one relapse (0.68 %), one withdrawal/recovery (0.68 %) and none with chronic disease or treatment failure. The incidence rate of tuberculosis showed no significant variations, changing from 46.08 x 5 in 1995 to 24.81 x 5 in 1998. The incidence rate was higher in younger children and was 111.38 x 5 in 1995 in children aged 0-4 years old. There were 78 boys (54.42 %) and 68 girls (46.75 %). A total of 51.36 % of the patients were from urban areas and 48.68 % were from rural areas. The most common location was the lung, with 132 cases (83.54 %). The diagnosis of pulmonary tuberculosis was accurate in 59 % of the patients and this percentage rose to 90.3 % in the group of patients aged 0-2 years old.ConclusionsIncidence of childhood tuberculous disease is high, especially in children aged 0-4 years old. A high percentage of diagnoses of pulmonary tuberculosis were accurate.</p>","PeriodicalId":7778,"journal":{"name":"Anales Espanoles De Pediatria","volume":"57 6","pages":"524-8"},"PeriodicalIF":0.0,"publicationDate":"2002-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22140579","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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