The Experts below are selected from a list of 267 Experts worldwide ranked by ideXlab platform
Mehul T. Dattani - One of the best experts on this subject based on the ideXlab platform.
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effect of Growth Hormone Deficiency on brain structure motor function and cognition
Brain, 2012Co-Authors: Emma A Webb, Michelle A Oreilly, Jonathan D Clayden, Kiran K Seunarine, W K Chong, Naomi Dale, Alison Salt, Chris A Clark, Mehul T. DattaniAbstract:The Growth Hormone-insulin-like Growth factor-1 axis plays a role in normal brain Growth but little is known of the effect of Growth Hormone Deficiency on brain structure. Children with isolated Growth Hormone Deficiency (peak Growth Hormone 10 µg/l) underwent cognitive assessment, diffusion tensor imaging and volumetric magnetic resonance imaging prior to commencing Growth Hormone treatment. Total brain, corpus callosal, hippocampal, thalamic and basal ganglia volumes were determined using Freesurfer. Fractional anisotropy (a marker of white matter structural integrity) images were aligned and tract-based spatial statistics performed. Fifteen children (mean 8.8 years of age) with isolated Growth Hormone Deficiency [peak Growth Hormone 10 µg/l (mean 15 µg/l) and normal Growth rate] were recruited. Compared with controls, children with isolated Growth Hormone Deficiency had lower Full-Scale IQ (P < 0.01), Verbal Comprehension Index (P < 0.01), Processing Speed Index (P < 0.05) and Movement-Assessment Battery for Children (P < 0.008) scores. Verbal Comprehension Index scores correlated significantly with insulin-like Growth factor-1 (P < 0.03) and insulin-like Growth factor binding protein-3 (P < 0.02) standard deviation scores in isolated Growth Hormone Deficiency. The splenium of the corpus callosum, left globus pallidum, thalamus and hippocampus (P < 0.01) were significantly smaller; and corticospinal tract (bilaterally; P < 0.045, P < 0.05) and corpus callosum (P < 0.05) fractional anisotropy were significantly lower in the isolated Growth Hormone Deficiency group. Basal ganglia volumes and bilateral corticospinal tract fractional anisotropy correlated significantly with Movement-Assessment Battery for Children scores, and corpus callosum fractional anisotropy with Full-Scale IQ and Processing Speed Index. In patients with isolated Growth Hormone Deficiency, white matter abnormalities in the corpus callosum and corticospinal tract, and reduced thalamic and globus pallidum volumes relate to deficits in cognitive function and motor performance. Follow-up studies that investigate the course of the structural and cognitive deficits on Growth Hormone treatment are now required to confirm that Growth Hormone Deficiency impacts significantly on brain structure, cognitive function and motor performance.
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Effect of Growth Hormone Deficiency on brain structure, motor function and cognition.
Brain : a journal of neurology, 2011Co-Authors: Emma A Webb, Jonathan D Clayden, Kiran K Seunarine, W K Chong, Naomi Dale, Alison Salt, Chris A Clark, Michelle A O'reilly, Mehul T. DattaniAbstract:The Growth Hormone-insulin-like Growth factor-1 axis plays a role in normal brain Growth but little is known of the effect of Growth Hormone Deficiency on brain structure. Children with isolated Growth Hormone Deficiency (peak Growth Hormone 10 µg/l) underwent cognitive assessment, diffusion tensor imaging and volumetric magnetic resonance imaging prior to commencing Growth Hormone treatment. Total brain, corpus callosal, hippocampal, thalamic and basal ganglia volumes were determined using Freesurfer. Fractional anisotropy (a marker of white matter structural integrity) images were aligned and tract-based spatial statistics performed. Fifteen children (mean 8.8 years of age) with isolated Growth Hormone Deficiency [peak Growth Hormone 10 µg/l (mean 15 µg/l) and normal Growth rate] were recruited. Compared with controls, children with isolated Growth Hormone Deficiency had lower Full-Scale IQ (P
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Genetic causes and treatment of isolated Growth Hormone Deficiency—an update
Nature Reviews Endocrinology, 2010Co-Authors: Kyriaki S. Alatzoglou, Mehul T. DattaniAbstract:Isolated Growth Hormone Deficiency is the most common pituitary Hormone Deficiency and can originate from congenital or acquired causes, although the majority of cases are idiopathic. This Review summarizes currently available evidence on the genetic factors involved in isolated Growth Hormone Deficiency, and highlights diagnostic challenges and novel advances in treatment. Mutations have been identified in up to 11% of cases of isolated Growth Hormone Deficiency, with a higher percentage found in familial cases Known genes involved in the genetic etiology of isolated Growth Hormone Deficiency include GH1 (which encodes Growth Hormone), GHRHR (which encodes Growth-Hormone-releasing Hormone receptor) and SOX3 (which encodes transcription factor SOX3) Unidentified genetic factors may also be involved in the etiology of isolated Growth Hormone Deficiency and their identification could lead to reclassification of the types of isolated Growth Hormone Deficiency in the future Patients with autosomal dominant GH1 mutations have variable phenotypes and, in some cases, can develop additional pituitary Hormone deficiencies; lifelong follow-up is, therefore, recommended Genetic variations in Growth Hormone, its receptor, insulin-like Growth factor (IGF) 1, IGF-binding protein 3, or other factors may explain the variability in the therapeutic response to recombinant human Growth Hormone Further studies are required to elucidate the pharmacogenomics of Growth Hormone activity, as results so far have not proved conclusive Isolated Growth Hormone Deficiency is the most common pituitary Hormone Deficiency and can result from congenital or acquired causes, although the majority of cases are idiopathic with no identifiable etiology. Known genes involved in the genetic etiology of isolated Growth Hormone Deficiency include those that encode Growth Hormone ( GH1 ), Growth-Hormone-releasing Hormone receptor ( GHRHR ) and transcription factor SOX3. However, mutations are identified in a relatively small percentage of patients, which suggests that other, yet unidentified, genetic factors are involved. Among the known factors, heterozygous mutations in GH1 remain the most frequent cause of isolated Growth Hormone Deficiency. The identification of mutations has clinical implications for the management of patients with this condition, as individuals with heterozygous GH1 mutations vary in phenotype and can, in some cases, develop additional pituitary Hormone deficiencies. Lifelong follow-up of these patients is, therefore, recommended. Further studies in the genetic etiology of isolated Growth Hormone Deficiency will help to elucidate mechanisms implicated in the control of Growth and may influence future treatment options. Advances in pharmacogenomics will also optimize the treatment of isolated Growth Hormone Deficiency and other conditions associated with short stature, for which recombinant human Growth Hormone is a licensed therapy.
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genetic causes and treatment of isolated Growth Hormone Deficiency an update
Nature Reviews Endocrinology, 2010Co-Authors: Kyriaki S. Alatzoglou, Mehul T. DattaniAbstract:Isolated Growth Hormone Deficiency is the most common pituitary Hormone Deficiency and can result from congenital or acquired causes, although the majority of cases are idiopathic with no identifiable etiology. Known genes involved in the genetic etiology of isolated Growth Hormone Deficiency include those that encode Growth Hormone (GH1), Growth-Hormone-releasing Hormone receptor (GHRHR) and transcription factor SOX3. However, mutations are identified in a relatively small percentage of patients, which suggests that other, yet unidentified, genetic factors are involved. Among the known factors, heterozygous mutations in GH1 remain the most frequent cause of isolated Growth Hormone Deficiency. The identification of mutations has clinical implications for the management of patients with this condition, as individuals with heterozygous GH1 mutations vary in phenotype and can, in some cases, develop additional pituitary Hormone deficiencies. Lifelong follow-up of these patients is, therefore, recommended. Further studies in the genetic etiology of isolated Growth Hormone Deficiency will help to elucidate mechanisms implicated in the control of Growth and may influence future treatment options. Advances in pharmacogenomics will also optimize the treatment of isolated Growth Hormone Deficiency and other conditions associated with short stature, for which recombinant human Growth Hormone is a licensed therapy.
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Genetic causes and treatment of isolated Growth Hormone Deficiency—an update
Nature reviews. Endocrinology, 2010Co-Authors: Kyriaki S. Alatzoglou, Mehul T. DattaniAbstract:Isolated Growth Hormone Deficiency is the most common pituitary Hormone Deficiency and can result from congenital or acquired causes, although the majority of cases are idiopathic with no identifiable etiology. Known genes involved in the genetic etiology of isolated Growth Hormone Deficiency include those that encode Growth Hormone (GH1), Growth-Hormone-releasing Hormone receptor (GHRHR) and transcription factor SOX3. However, mutations are identified in a relatively small percentage of patients, which suggests that other, yet unidentified, genetic factors are involved. Among the known factors, heterozygous mutations in GH1 remain the most frequent cause of isolated Growth Hormone Deficiency. The identification of mutations has clinical implications for the management of patients with this condition, as individuals with heterozygous GH1 mutations vary in phenotype and can, in some cases, develop additional pituitary Hormone deficiencies. Lifelong follow-up of these patients is, therefore, recommended. Further studies in the genetic etiology of isolated Growth Hormone Deficiency will help to elucidate mechanisms implicated in the control of Growth and may influence future treatment options. Advances in pharmacogenomics will also optimize the treatment of isolated Growth Hormone Deficiency and other conditions associated with short stature, for which recombinant human Growth Hormone is a licensed therapy.
David L. Nelson - One of the best experts on this subject based on the ideXlab platform.
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X-linked hypogammaglobulinemia and isolated Growth Hormone Deficiency: an update
Immunologic Research, 2008Co-Authors: Donn M. Stewart, Lan Tian, Luigi D. Notarangelo, David L. NelsonAbstract:X-linked hypogammaglobulinemia and isolated Growth Hormone Deficiency (XLH-GHD, OMIM # 307200) is a primary immunoDeficiency disorder characterized by pan-hypogammaglobulinemia and isolated Growth Hormone Deficiency. The disease, which is only known to occur in a single family, shares many features with X-linked agammaglobulinemia (XLA, OMIM # 300300). The current review summarizes the clinical, laboratory, and genetic features of the disease as they have unfolded over the past quarter-century since its description.
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Update on X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency.
Current opinion in allergy and clinical immunology, 2005Co-Authors: Donn M. Stewart, Lan Tian, Luigi D. Notarangelo, David L. NelsonAbstract:PURPOSE OF REVIEW To provide an update on the syndrome X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency, focusing on the pedigree described originally. RECENT FINDINGS An additional case of X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency and an unaffected male have been born to a female carrier in the family, allowing improved disease locus mapping. Unpublished research has identified a mutation in the transcription factor myeloid elf-1-like factor that may be the cause of the disease. SUMMARY X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency is not caused by Bruton's tyrosine kinase mutations in the family described originally, but may be due to a mutation in myeloid elf-1-like factor.
Donn M. Stewart - One of the best experts on this subject based on the ideXlab platform.
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X-linked hypogammaglobulinemia and isolated Growth Hormone Deficiency: an update
Immunologic Research, 2008Co-Authors: Donn M. Stewart, Lan Tian, Luigi D. Notarangelo, David L. NelsonAbstract:X-linked hypogammaglobulinemia and isolated Growth Hormone Deficiency (XLH-GHD, OMIM # 307200) is a primary immunoDeficiency disorder characterized by pan-hypogammaglobulinemia and isolated Growth Hormone Deficiency. The disease, which is only known to occur in a single family, shares many features with X-linked agammaglobulinemia (XLA, OMIM # 300300). The current review summarizes the clinical, laboratory, and genetic features of the disease as they have unfolded over the past quarter-century since its description.
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Update on X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency.
Current opinion in allergy and clinical immunology, 2005Co-Authors: Donn M. Stewart, Lan Tian, Luigi D. Notarangelo, David L. NelsonAbstract:PURPOSE OF REVIEW To provide an update on the syndrome X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency, focusing on the pedigree described originally. RECENT FINDINGS An additional case of X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency and an unaffected male have been born to a female carrier in the family, allowing improved disease locus mapping. Unpublished research has identified a mutation in the transcription factor myeloid elf-1-like factor that may be the cause of the disease. SUMMARY X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency is not caused by Bruton's tyrosine kinase mutations in the family described originally, but may be due to a mutation in myeloid elf-1-like factor.
Kyriaki S. Alatzoglou - One of the best experts on this subject based on the ideXlab platform.
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Genetic causes and treatment of isolated Growth Hormone Deficiency—an update
Nature Reviews Endocrinology, 2010Co-Authors: Kyriaki S. Alatzoglou, Mehul T. DattaniAbstract:Isolated Growth Hormone Deficiency is the most common pituitary Hormone Deficiency and can originate from congenital or acquired causes, although the majority of cases are idiopathic. This Review summarizes currently available evidence on the genetic factors involved in isolated Growth Hormone Deficiency, and highlights diagnostic challenges and novel advances in treatment. Mutations have been identified in up to 11% of cases of isolated Growth Hormone Deficiency, with a higher percentage found in familial cases Known genes involved in the genetic etiology of isolated Growth Hormone Deficiency include GH1 (which encodes Growth Hormone), GHRHR (which encodes Growth-Hormone-releasing Hormone receptor) and SOX3 (which encodes transcription factor SOX3) Unidentified genetic factors may also be involved in the etiology of isolated Growth Hormone Deficiency and their identification could lead to reclassification of the types of isolated Growth Hormone Deficiency in the future Patients with autosomal dominant GH1 mutations have variable phenotypes and, in some cases, can develop additional pituitary Hormone deficiencies; lifelong follow-up is, therefore, recommended Genetic variations in Growth Hormone, its receptor, insulin-like Growth factor (IGF) 1, IGF-binding protein 3, or other factors may explain the variability in the therapeutic response to recombinant human Growth Hormone Further studies are required to elucidate the pharmacogenomics of Growth Hormone activity, as results so far have not proved conclusive Isolated Growth Hormone Deficiency is the most common pituitary Hormone Deficiency and can result from congenital or acquired causes, although the majority of cases are idiopathic with no identifiable etiology. Known genes involved in the genetic etiology of isolated Growth Hormone Deficiency include those that encode Growth Hormone ( GH1 ), Growth-Hormone-releasing Hormone receptor ( GHRHR ) and transcription factor SOX3. However, mutations are identified in a relatively small percentage of patients, which suggests that other, yet unidentified, genetic factors are involved. Among the known factors, heterozygous mutations in GH1 remain the most frequent cause of isolated Growth Hormone Deficiency. The identification of mutations has clinical implications for the management of patients with this condition, as individuals with heterozygous GH1 mutations vary in phenotype and can, in some cases, develop additional pituitary Hormone deficiencies. Lifelong follow-up of these patients is, therefore, recommended. Further studies in the genetic etiology of isolated Growth Hormone Deficiency will help to elucidate mechanisms implicated in the control of Growth and may influence future treatment options. Advances in pharmacogenomics will also optimize the treatment of isolated Growth Hormone Deficiency and other conditions associated with short stature, for which recombinant human Growth Hormone is a licensed therapy.
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genetic causes and treatment of isolated Growth Hormone Deficiency an update
Nature Reviews Endocrinology, 2010Co-Authors: Kyriaki S. Alatzoglou, Mehul T. DattaniAbstract:Isolated Growth Hormone Deficiency is the most common pituitary Hormone Deficiency and can result from congenital or acquired causes, although the majority of cases are idiopathic with no identifiable etiology. Known genes involved in the genetic etiology of isolated Growth Hormone Deficiency include those that encode Growth Hormone (GH1), Growth-Hormone-releasing Hormone receptor (GHRHR) and transcription factor SOX3. However, mutations are identified in a relatively small percentage of patients, which suggests that other, yet unidentified, genetic factors are involved. Among the known factors, heterozygous mutations in GH1 remain the most frequent cause of isolated Growth Hormone Deficiency. The identification of mutations has clinical implications for the management of patients with this condition, as individuals with heterozygous GH1 mutations vary in phenotype and can, in some cases, develop additional pituitary Hormone deficiencies. Lifelong follow-up of these patients is, therefore, recommended. Further studies in the genetic etiology of isolated Growth Hormone Deficiency will help to elucidate mechanisms implicated in the control of Growth and may influence future treatment options. Advances in pharmacogenomics will also optimize the treatment of isolated Growth Hormone Deficiency and other conditions associated with short stature, for which recombinant human Growth Hormone is a licensed therapy.
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Genetic causes and treatment of isolated Growth Hormone Deficiency—an update
Nature reviews. Endocrinology, 2010Co-Authors: Kyriaki S. Alatzoglou, Mehul T. DattaniAbstract:Isolated Growth Hormone Deficiency is the most common pituitary Hormone Deficiency and can result from congenital or acquired causes, although the majority of cases are idiopathic with no identifiable etiology. Known genes involved in the genetic etiology of isolated Growth Hormone Deficiency include those that encode Growth Hormone (GH1), Growth-Hormone-releasing Hormone receptor (GHRHR) and transcription factor SOX3. However, mutations are identified in a relatively small percentage of patients, which suggests that other, yet unidentified, genetic factors are involved. Among the known factors, heterozygous mutations in GH1 remain the most frequent cause of isolated Growth Hormone Deficiency. The identification of mutations has clinical implications for the management of patients with this condition, as individuals with heterozygous GH1 mutations vary in phenotype and can, in some cases, develop additional pituitary Hormone deficiencies. Lifelong follow-up of these patients is, therefore, recommended. Further studies in the genetic etiology of isolated Growth Hormone Deficiency will help to elucidate mechanisms implicated in the control of Growth and may influence future treatment options. Advances in pharmacogenomics will also optimize the treatment of isolated Growth Hormone Deficiency and other conditions associated with short stature, for which recombinant human Growth Hormone is a licensed therapy.
Lan Tian - One of the best experts on this subject based on the ideXlab platform.
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X-linked hypogammaglobulinemia and isolated Growth Hormone Deficiency: an update
Immunologic Research, 2008Co-Authors: Donn M. Stewart, Lan Tian, Luigi D. Notarangelo, David L. NelsonAbstract:X-linked hypogammaglobulinemia and isolated Growth Hormone Deficiency (XLH-GHD, OMIM # 307200) is a primary immunoDeficiency disorder characterized by pan-hypogammaglobulinemia and isolated Growth Hormone Deficiency. The disease, which is only known to occur in a single family, shares many features with X-linked agammaglobulinemia (XLA, OMIM # 300300). The current review summarizes the clinical, laboratory, and genetic features of the disease as they have unfolded over the past quarter-century since its description.
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Update on X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency.
Current opinion in allergy and clinical immunology, 2005Co-Authors: Donn M. Stewart, Lan Tian, Luigi D. Notarangelo, David L. NelsonAbstract:PURPOSE OF REVIEW To provide an update on the syndrome X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency, focusing on the pedigree described originally. RECENT FINDINGS An additional case of X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency and an unaffected male have been born to a female carrier in the family, allowing improved disease locus mapping. Unpublished research has identified a mutation in the transcription factor myeloid elf-1-like factor that may be the cause of the disease. SUMMARY X-linked hypogammaglobulinemia with isolated Growth Hormone Deficiency is not caused by Bruton's tyrosine kinase mutations in the family described originally, but may be due to a mutation in myeloid elf-1-like factor.
