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Guerra A.t.m. - One of the best experts on this subject based on the ideXlab platform.
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Variables Associated With Diagnostic Delay In Turner Syndrome [fatores Associados A Atraso No Diagnóstico Da Síndrome De Turner]
2015Co-Authors: Neto J.m., Marini S.h.v.l., Faria A.p.m., Guerra Junior G., Guerra A.t.m.Abstract:Objective: To investigate the possible reasons for diagnostic delay in Turner syndrome (TS), i.e., a diagnosis made after the age when pubertal delay may be established. Methods: Cross-sectional study with data obtained from the records of 29 TS patients aged more than two years who were diagnosed between 2004 and 2007. Data on personal and family history and physical examination from patients diagnosed before 13 years old (age limit from which pubertal delay may be characterized in girls) were compared to those of girls diagnosed after 13 years by Fisher exact test and Student's t-test. Results: No significant differences were noted regarding mothers' and patients' stature, personal history of TS-associated diseases (considered individually), parental schooling, familial recurrence of short stature, presence of each Dysmorphic Feature considered separately, and total number of Dysmorphic Features. The two groups differed regarding the presence of at least one TS-associated disease (which was associated to early diagnosis) and number of siblings (which was higher among patients with delayed diagnosis and associated with lower maternal schooling). Conclusions: Early diagnosis was more associated with the presence of a TS-associated disease (which may have required referral to secondary or tertiary health care services) than with the presence of Dysmorphic signs. The results indicate that less evident growth deficit, physicians' inability to recognize abnormalities associated with TS and socioeconomic aspects may contribute to diagnostic delay. Pediatric training should emphasize recognition of the clinical spectrum of TS and public genetic services should be expanded
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Variables Associated With Diagnostic Delay In Turner Syndrome [fatores Associados A Atraso No Diagnóstico Da Síndrome De Turner]
'FapUNIFESP (SciELO)', 2015Co-Authors: Neto J.m., Marini S.h.v.l., Faria A.p.m., Guerra Junior G., Guerra A.t.m.Abstract:Objective: To investigate the possible reasons for diagnostic delay in Turner syndrome (TS), i.e., a diagnosis made after the age when pubertal delay may be established. Methods: Cross-sectional study with data obtained from the records of 29 TS patients aged more than two years who were diagnosed between 2004 and 2007. Data on personal and family history and physical examination from patients diagnosed before 13 years old (age limit from which pubertal delay may be characterized in girls) were compared to those of girls diagnosed after 13 years by Fisher exact test and Student's t-test. Results: No significant differences were noted regarding mothers' and patients' stature, personal history of TS-associated diseases (considered individually), parental schooling, familial recurrence of short stature, presence of each Dysmorphic Feature considered separately, and total number of Dysmorphic Features. The two groups differed regarding the presence of at least one TS-associated disease (which was associated to early diagnosis) and number of siblings (which was higher among patients with delayed diagnosis and associated with lower maternal schooling). Conclusions: Early diagnosis was more associated with the presence of a TS-associated disease (which may have required referral to secondary or tertiary health care services) than with the presence of Dysmorphic signs. The results indicate that less evident growth deficit, physicians' inability to recognize abnormalities associated with TS and socioeconomic aspects may contribute to diagnostic delay. Pediatric training should emphasize recognition of the clinical spectrum of TS and public genetic services should be expanded.2916772Zinn, A.R., Tonk, V.S., Chen, Z., Flejter, W.L., Gardner, H.A., Guerra, R., Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1 (1998) Am J Hum Genet, 63, pp. 1757-1766Nielsen, J., Wohlert, M., Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark (1991) Hum Genet, 87, pp. 81-83Viguetti, N.L., Maciel-Guerra, A.T., Short stature and Turner syndrome: An association more frequent than expected (1994) J Pediatr (Rio J), 70, pp. 172-174Sybert, V.P., McCauley, E., Medical progress: Turner's syndrome (2004) N Eng J Med, 351, pp. 1227-12233Bondy, C.A., Turner Syndrome Study Group. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group (2007) J Clin Endocrinol Metab, 92, pp. 10-25Guedes, A.D., Verreschi, I.T., Grupo de Discussão em Síndrome de Turner. Síndrome de Turner: Diagnóstico e tratamento (2006) Projeto Diretrizes, 2006. , São Paulo: Associação Médica BrasileiraConselho Federal de MedicinaSuzigan, L.Z.C., Silva, R.B.P., Maciel-Guerra, A.T., Aspectos psicossociais da síndrome de Turner (2005) Arq Bras Endocrinol Metab, 49, pp. 157-164Carvalho, A.B., Guerra-Junior, G., Baptista, M.T., Marques-de-Faria, A.P., Lemos-Marini, S.H., Maciel-Guerra, A.T., Turner syndrome: A pediatric diagnosis frequently made by non-pediatricians (2010) J Pediatr (Rio J), 86, pp. 121-125Lee, P.A., Normal ages of pubertal events among American males and females (1980) J Adolesc Health Care, 1, pp. 26-29Spinola-Castro, A.M., Retardo puberal (2006) Endocrinologia Para O Pediatra, pp. 167-174. , In: Monte O, Longui CA, Calliari LE, Kochi C, editores, 3a ed. São Paulo: AtheneuSävendahl, L., Davenport, M.L., Delayed diagnoses of Turner's syndrome: Proposed guidelines for change (2000) J Pediatr, 137, pp. 455-459Massa, G., Verlinde, F., de Schepper, J., Thomas, M., Bourguignon, J.P., Craen, M., Trends in age at diagnosis of Turner syndrome (2005) Arch Dis Child, 90, pp. 267-268Lyon, A.J., Preece, M.A., Grant, D.B., Growth curve for girls with Turner syndrome (1985) Arch Dis Child, 60, pp. 932-93
Neto J.m. - One of the best experts on this subject based on the ideXlab platform.
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Variables Associated With Diagnostic Delay In Turner Syndrome [fatores Associados A Atraso No Diagnóstico Da Síndrome De Turner]
2015Co-Authors: Neto J.m., Marini S.h.v.l., Faria A.p.m., Guerra Junior G., Guerra A.t.m.Abstract:Objective: To investigate the possible reasons for diagnostic delay in Turner syndrome (TS), i.e., a diagnosis made after the age when pubertal delay may be established. Methods: Cross-sectional study with data obtained from the records of 29 TS patients aged more than two years who were diagnosed between 2004 and 2007. Data on personal and family history and physical examination from patients diagnosed before 13 years old (age limit from which pubertal delay may be characterized in girls) were compared to those of girls diagnosed after 13 years by Fisher exact test and Student's t-test. Results: No significant differences were noted regarding mothers' and patients' stature, personal history of TS-associated diseases (considered individually), parental schooling, familial recurrence of short stature, presence of each Dysmorphic Feature considered separately, and total number of Dysmorphic Features. The two groups differed regarding the presence of at least one TS-associated disease (which was associated to early diagnosis) and number of siblings (which was higher among patients with delayed diagnosis and associated with lower maternal schooling). Conclusions: Early diagnosis was more associated with the presence of a TS-associated disease (which may have required referral to secondary or tertiary health care services) than with the presence of Dysmorphic signs. The results indicate that less evident growth deficit, physicians' inability to recognize abnormalities associated with TS and socioeconomic aspects may contribute to diagnostic delay. Pediatric training should emphasize recognition of the clinical spectrum of TS and public genetic services should be expanded
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Variables Associated With Diagnostic Delay In Turner Syndrome [fatores Associados A Atraso No Diagnóstico Da Síndrome De Turner]
'FapUNIFESP (SciELO)', 2015Co-Authors: Neto J.m., Marini S.h.v.l., Faria A.p.m., Guerra Junior G., Guerra A.t.m.Abstract:Objective: To investigate the possible reasons for diagnostic delay in Turner syndrome (TS), i.e., a diagnosis made after the age when pubertal delay may be established. Methods: Cross-sectional study with data obtained from the records of 29 TS patients aged more than two years who were diagnosed between 2004 and 2007. Data on personal and family history and physical examination from patients diagnosed before 13 years old (age limit from which pubertal delay may be characterized in girls) were compared to those of girls diagnosed after 13 years by Fisher exact test and Student's t-test. Results: No significant differences were noted regarding mothers' and patients' stature, personal history of TS-associated diseases (considered individually), parental schooling, familial recurrence of short stature, presence of each Dysmorphic Feature considered separately, and total number of Dysmorphic Features. The two groups differed regarding the presence of at least one TS-associated disease (which was associated to early diagnosis) and number of siblings (which was higher among patients with delayed diagnosis and associated with lower maternal schooling). Conclusions: Early diagnosis was more associated with the presence of a TS-associated disease (which may have required referral to secondary or tertiary health care services) than with the presence of Dysmorphic signs. The results indicate that less evident growth deficit, physicians' inability to recognize abnormalities associated with TS and socioeconomic aspects may contribute to diagnostic delay. Pediatric training should emphasize recognition of the clinical spectrum of TS and public genetic services should be expanded.2916772Zinn, A.R., Tonk, V.S., Chen, Z., Flejter, W.L., Gardner, H.A., Guerra, R., Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1 (1998) Am J Hum Genet, 63, pp. 1757-1766Nielsen, J., Wohlert, M., Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark (1991) Hum Genet, 87, pp. 81-83Viguetti, N.L., Maciel-Guerra, A.T., Short stature and Turner syndrome: An association more frequent than expected (1994) J Pediatr (Rio J), 70, pp. 172-174Sybert, V.P., McCauley, E., Medical progress: Turner's syndrome (2004) N Eng J Med, 351, pp. 1227-12233Bondy, C.A., Turner Syndrome Study Group. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group (2007) J Clin Endocrinol Metab, 92, pp. 10-25Guedes, A.D., Verreschi, I.T., Grupo de Discussão em Síndrome de Turner. Síndrome de Turner: Diagnóstico e tratamento (2006) Projeto Diretrizes, 2006. , São Paulo: Associação Médica BrasileiraConselho Federal de MedicinaSuzigan, L.Z.C., Silva, R.B.P., Maciel-Guerra, A.T., Aspectos psicossociais da síndrome de Turner (2005) Arq Bras Endocrinol Metab, 49, pp. 157-164Carvalho, A.B., Guerra-Junior, G., Baptista, M.T., Marques-de-Faria, A.P., Lemos-Marini, S.H., Maciel-Guerra, A.T., Turner syndrome: A pediatric diagnosis frequently made by non-pediatricians (2010) J Pediatr (Rio J), 86, pp. 121-125Lee, P.A., Normal ages of pubertal events among American males and females (1980) J Adolesc Health Care, 1, pp. 26-29Spinola-Castro, A.M., Retardo puberal (2006) Endocrinologia Para O Pediatra, pp. 167-174. , In: Monte O, Longui CA, Calliari LE, Kochi C, editores, 3a ed. São Paulo: AtheneuSävendahl, L., Davenport, M.L., Delayed diagnoses of Turner's syndrome: Proposed guidelines for change (2000) J Pediatr, 137, pp. 455-459Massa, G., Verlinde, F., de Schepper, J., Thomas, M., Bourguignon, J.P., Craen, M., Trends in age at diagnosis of Turner syndrome (2005) Arch Dis Child, 90, pp. 267-268Lyon, A.J., Preece, M.A., Grant, D.B., Growth curve for girls with Turner syndrome (1985) Arch Dis Child, 60, pp. 932-93
Hadders-algra Mijna - One of the best experts on this subject based on the ideXlab platform.
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Dysmorphic Features and developmental outcome of 2-year-old children
2014Co-Authors: Seggers Jorien, Middelburg, Karin J, Haadsma, Maaike L., Bos, Arend F., Heineman, Maas Jan, Van Den Heuvel, Edwin R., Hadders-algra MijnaAbstract:AimThe aim of this study was to assess the associations between Dysmorphic Features and neurological, mental, psychomotor, and behavioural development in order to improve our understanding of aetiological pathways leading to minor developmental problems. MethodIn our cross-sectional study, 272 generally healthy 2-year-olds (143 males, 129 females; median gestational age 39weeks, [range 30-43wks]), born after a parental history of subfertility either with or without fertility treatment, were examined. Dysmorphic Features were classified as abnormalities (clinically relevant or not), minor anomalies, or common variants according to Merks' classification system. Hempel's neurological assessment resulted in a neurological optimality score (NOS) and fluency score. Mental and psychomotor development were assessed with the Dutch version of the Bayley Scales of Infant Development and behavioural development with the Achenbach Child Behaviour Checklist. ResultsOf the different types of Dysmorphic Feature, clinically relevant abnormalities were most strongly associated with a lower NOS (difference -2.53, 95% confidence interval [CI] -4.23 to -0.83) and fluency score (difference -0.62, 95% CI -1.1 to -0.15). The presence of one or more abnormalities (clinically relevant or not) or one or more common variants was significantly associated with a lower NOS, and the presence of three or more minor anomalies was associated with lower fluency scores. Dysmorphic Features were not associated with mental, psychomotor, or behavioural development. InterpretationAs Dysmorphic Features originate during the first trimester of pregnancy, the association between Dysmorphic Features and minor alterations in neurodevelopment may suggest an early ontogenetic origin of subtle neurological deviations. What this paper adds We found that Dysmorphic Features are associated with minor alterations in neurological development.This finding suggests an early ontogenetic origin of subtle neurological deviations
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Dysmorphic Features and developmental outcome of 2-year-old children
Wiley-Blackwell, 2014Co-Authors: Seggers Jorien, Ml Haadsma, Af Bos, Mj Heineman, Middelburg, Karin J, Heuvel, Er Edwin Van Den, Hadders-algra MijnaAbstract:Aim. The aim of this study was to assess the associations between Dysmorphic Features and neurological, mental, psychomotor, and behavioural development in order to improve our understanding of aetiological pathways leading to minor developmental problems. Method. In our cross-sectional study, 272 generally healthy 2-year-olds (143 males, 129 females; median gestational age 39 weeks, [range 30–43wks]), born after a parental history of subfertility either with or without fertility treatment, were examined. Dysmorphic Features were classified as abnormalities (clinically relevant or not), minor anomalies, or common variants according to Merks' classification system. Hempel's neurological assessment resulted in a neurological optimality score (NOS) and fluency score. Mental and psychomotor development were assessed with the Dutch version of the Bayley Scales of Infant Development and behavioural development with the Achenbach Child Behaviour Checklist. Results. Of the different types of Dysmorphic Feature, clinically relevant abnormalities were most strongly associated with a lower NOS (difference -2.53, 95% confidence interval [CI] -4.23 to -0.83) and fluency score (difference -0.62, 95% CI -1.1 to -0.15). The presence of one or more abnormalities (clinically relevant or not) or one or more common variants was significantly associated with a lower NOS, and the presence of three or more minor anomalies was associated with lower fluency scores. Dysmorphic Features were not associated with mental, psychomotor, or behavioural development. Interpretation. As Dysmorphic Features originate during the first trimester of pregnancy, the association between Dysmorphic Features and minor alterations in neurodevelopment may suggest an early ontogenetic origin of subtle neurological deviations
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Dysmorphic Features and developmental outcome of 2-year-old children
2014Co-Authors: Seggers Jorien, Middelburg, Karin J, Haadsma, Maaike L., Bos, Arend F., Heineman, Maas Jan, Van Den Heuvel, Edwin R., Hadders-algra MijnaAbstract:The aim of this study was to assess the associations between Dysmorphic Features and neurological, mental, psychomotor, and behavioural development in order to improve our understanding of aetiological pathways leading to minor developmental problems. In our cross-sectional study, 272 generally healthy 2-year-olds (143 males, 129 females; median gestational age 39 weeks, [range 30-43wks]), born after a parental history of subfertility either with or without fertility treatment, were examined. Dysmorphic Features were classified as abnormalities (clinically relevant or not), minor anomalies, or common variants according to Merks' classification system. Hempel's neurological assessment resulted in a neurological optimality score (NOS) and fluency score. Mental and psychomotor development were assessed with the Dutch version of the Bayley Scales of Infant Development and behavioural development with the Achenbach Child Behaviour Checklist. Of the different types of Dysmorphic Feature, clinically relevant abnormalities were most strongly associated with a lower NOS (difference -2.53, 95% confidence interval [CI] -4.23 to -0.83) and fluency score (difference -0.62, 95% CI -1.1 to -0.15). The presence of one or more abnormalities (clinically relevant or not) or one or more common variants was significantly associated with a lower NOS, and the presence of three or more minor anomalies was associated with lower fluency scores. Dysmorphic Features were not associated with mental, psychomotor, or behavioural development. As Dysmorphic Features originate during the first trimester of pregnancy, the association between Dysmorphic Features and minor alterations in neurodevelopment may suggest an early ontogenetic origin of subtle neurological deviation
Mattina T - One of the best experts on this subject based on the ideXlab platform.
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Clinical and molecular characterization of patients with distal 11q deletions
American Society of Human Genetics, 1995Co-Authors: Penny, Laura A., Jones, Marilyn C., Fryns Jean-pierre, Graham, John M., Dell'aquila M, Bergoffen J, Cunniff C, Grace E, Kousseff B, Mattina TAbstract:Jacobsen syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical Features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these Features are invariably present. To define the critical regions responsible for these abnormalities, we studied 17 individuals with de novo terminal deletions of 11q. The patients were characterized in a loss-of-heterozygosity analysis using polymorphic dinucleotide repeats. The breakpoints in the complete two-generation families were localized with an average resolution of 3.9 cM. Eight patients with the largest deletions extending from 11q23.3 to 11qter have breakpoints, between D11S924 and D11S1341. This cytogenetic region accounts for the majority of 11q- patients and may be related to the FRA11B fragile site in 11q23.3. One patient with a small terminal deletion distal to D11S1351 had facial dysmorphism, cardiac defects, and thrombocytopenia, suggesting that the genes responsible for these Features may lie distal to D11S1351. Twelve of 15 patients with deletion breakpoints as far distal as D11S1345 had trigonocephaly, while patients with deletions distal to D11S912 did not, suggesting that, if hemizygosity for a single gene is responsible for this Dysmorphic Feature, the gene may lie distal to D11S1345 and proximal to D11S912.status: publishe
Guerra Junior G. - One of the best experts on this subject based on the ideXlab platform.
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Variables Associated With Diagnostic Delay In Turner Syndrome [fatores Associados A Atraso No Diagnóstico Da Síndrome De Turner]
2015Co-Authors: Neto J.m., Marini S.h.v.l., Faria A.p.m., Guerra Junior G., Guerra A.t.m.Abstract:Objective: To investigate the possible reasons for diagnostic delay in Turner syndrome (TS), i.e., a diagnosis made after the age when pubertal delay may be established. Methods: Cross-sectional study with data obtained from the records of 29 TS patients aged more than two years who were diagnosed between 2004 and 2007. Data on personal and family history and physical examination from patients diagnosed before 13 years old (age limit from which pubertal delay may be characterized in girls) were compared to those of girls diagnosed after 13 years by Fisher exact test and Student's t-test. Results: No significant differences were noted regarding mothers' and patients' stature, personal history of TS-associated diseases (considered individually), parental schooling, familial recurrence of short stature, presence of each Dysmorphic Feature considered separately, and total number of Dysmorphic Features. The two groups differed regarding the presence of at least one TS-associated disease (which was associated to early diagnosis) and number of siblings (which was higher among patients with delayed diagnosis and associated with lower maternal schooling). Conclusions: Early diagnosis was more associated with the presence of a TS-associated disease (which may have required referral to secondary or tertiary health care services) than with the presence of Dysmorphic signs. The results indicate that less evident growth deficit, physicians' inability to recognize abnormalities associated with TS and socioeconomic aspects may contribute to diagnostic delay. Pediatric training should emphasize recognition of the clinical spectrum of TS and public genetic services should be expanded
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Variables Associated With Diagnostic Delay In Turner Syndrome [fatores Associados A Atraso No Diagnóstico Da Síndrome De Turner]
'FapUNIFESP (SciELO)', 2015Co-Authors: Neto J.m., Marini S.h.v.l., Faria A.p.m., Guerra Junior G., Guerra A.t.m.Abstract:Objective: To investigate the possible reasons for diagnostic delay in Turner syndrome (TS), i.e., a diagnosis made after the age when pubertal delay may be established. Methods: Cross-sectional study with data obtained from the records of 29 TS patients aged more than two years who were diagnosed between 2004 and 2007. Data on personal and family history and physical examination from patients diagnosed before 13 years old (age limit from which pubertal delay may be characterized in girls) were compared to those of girls diagnosed after 13 years by Fisher exact test and Student's t-test. Results: No significant differences were noted regarding mothers' and patients' stature, personal history of TS-associated diseases (considered individually), parental schooling, familial recurrence of short stature, presence of each Dysmorphic Feature considered separately, and total number of Dysmorphic Features. The two groups differed regarding the presence of at least one TS-associated disease (which was associated to early diagnosis) and number of siblings (which was higher among patients with delayed diagnosis and associated with lower maternal schooling). Conclusions: Early diagnosis was more associated with the presence of a TS-associated disease (which may have required referral to secondary or tertiary health care services) than with the presence of Dysmorphic signs. The results indicate that less evident growth deficit, physicians' inability to recognize abnormalities associated with TS and socioeconomic aspects may contribute to diagnostic delay. Pediatric training should emphasize recognition of the clinical spectrum of TS and public genetic services should be expanded.2916772Zinn, A.R., Tonk, V.S., Chen, Z., Flejter, W.L., Gardner, H.A., Guerra, R., Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1 (1998) Am J Hum Genet, 63, pp. 1757-1766Nielsen, J., Wohlert, M., Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark (1991) Hum Genet, 87, pp. 81-83Viguetti, N.L., Maciel-Guerra, A.T., Short stature and Turner syndrome: An association more frequent than expected (1994) J Pediatr (Rio J), 70, pp. 172-174Sybert, V.P., McCauley, E., Medical progress: Turner's syndrome (2004) N Eng J Med, 351, pp. 1227-12233Bondy, C.A., Turner Syndrome Study Group. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group (2007) J Clin Endocrinol Metab, 92, pp. 10-25Guedes, A.D., Verreschi, I.T., Grupo de Discussão em Síndrome de Turner. Síndrome de Turner: Diagnóstico e tratamento (2006) Projeto Diretrizes, 2006. , São Paulo: Associação Médica BrasileiraConselho Federal de MedicinaSuzigan, L.Z.C., Silva, R.B.P., Maciel-Guerra, A.T., Aspectos psicossociais da síndrome de Turner (2005) Arq Bras Endocrinol Metab, 49, pp. 157-164Carvalho, A.B., Guerra-Junior, G., Baptista, M.T., Marques-de-Faria, A.P., Lemos-Marini, S.H., Maciel-Guerra, A.T., Turner syndrome: A pediatric diagnosis frequently made by non-pediatricians (2010) J Pediatr (Rio J), 86, pp. 121-125Lee, P.A., Normal ages of pubertal events among American males and females (1980) J Adolesc Health Care, 1, pp. 26-29Spinola-Castro, A.M., Retardo puberal (2006) Endocrinologia Para O Pediatra, pp. 167-174. , In: Monte O, Longui CA, Calliari LE, Kochi C, editores, 3a ed. São Paulo: AtheneuSävendahl, L., Davenport, M.L., Delayed diagnoses of Turner's syndrome: Proposed guidelines for change (2000) J Pediatr, 137, pp. 455-459Massa, G., Verlinde, F., de Schepper, J., Thomas, M., Bourguignon, J.P., Craen, M., Trends in age at diagnosis of Turner syndrome (2005) Arch Dis Child, 90, pp. 267-268Lyon, A.J., Preece, M.A., Grant, D.B., Growth curve for girls with Turner syndrome (1985) Arch Dis Child, 60, pp. 932-93