The Experts below are selected from a list of 228 Experts worldwide ranked by ideXlab platform
Roni Peleg - One of the best experts on this subject based on the ideXlab platform.
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does primary Lactase Deficiency reduce bone mineral density in postmenopausal women a systematic review and meta analysis
Osteoporosis International, 2018Co-Authors: Y Treistergoltzman, M Friger, Roni PelegAbstract:Summary Postmenopausal osteoporosis is a significant cause of morbidity and mortality. The role of primary Lactase Deficiency (PLD) in its development is not clear. This meta-analysis showed that PLD is a risk factor for osteoporosis in postmenopausal women. These women need special attention in terms of screening for osteoporosis and its prevention.
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does primary Lactase Deficiency reduce bone mineral density in postmenopausal women a systematic review and meta analysis
Osteoporosis International, 2018Co-Authors: Y Treistergoltzman, M Friger, Roni PelegAbstract:Postmenopausal osteoporosis is a significant cause of morbidity and mortality. The role of primary Lactase Deficiency (PLD) in its development is not clear. This meta-analysis showed that PLD is a risk factor for osteoporosis in postmenopausal women. These women need special attention in terms of screening for osteoporosis and its prevention. Postmenopausal osteoporosis is an important predictor of bone fractures. The purpose of the study was to conduct a systematic review and meta-analysis of association of PLD and bone mineral density (BMD) in postmenopausal women. The electronic databases PubMed, Scopus, and Web of Science were searched over the course of July 2017 for any date of publication without language limitation. Studies were included in the meta-analysis if the diagnosis of PLD was made by genetic testing or H-2 breath tests and the diagnosis of osteoporosis was made by a modern reliable method for BMD measurement. Two investigators conducted a comprehensive, independent review of all the papers. Five of the studies initially identified met the inclusion criteria. We used MOOSE guidelines for abstracting data and assessing data quality and validity. Meta-analysis was performed using the random effects model. Five case-control studies with 2223 participants and 763 Lactase-deficient cases fulfilled the inclusion criteria. Meta-analysis showed a significantly higher bone density Z-score in absorbers (mean difference 0.20, CI (0.14–0.27), P = 0.000), with no significant heterogeneity among the studies. Moreover, the Z-score in the vast majority of the measured sites (femoral head, femoral neck, lumbar spine, radius, and Ward’s triangle) was significantly higher in absorbers. There was no significant overall difference in BMD in g/cm2 between absorbers and non-absorbers, but a significantly higher BMD using g/cm2 was observed in absorbers in the total hip site. Postmenopausal women with PLD had lower Z-scores at most anatomic sites compared to healthy controls.
Y Treistergoltzman - One of the best experts on this subject based on the ideXlab platform.
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does primary Lactase Deficiency reduce bone mineral density in postmenopausal women a systematic review and meta analysis
Osteoporosis International, 2018Co-Authors: Y Treistergoltzman, M Friger, Roni PelegAbstract:Summary Postmenopausal osteoporosis is a significant cause of morbidity and mortality. The role of primary Lactase Deficiency (PLD) in its development is not clear. This meta-analysis showed that PLD is a risk factor for osteoporosis in postmenopausal women. These women need special attention in terms of screening for osteoporosis and its prevention.
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does primary Lactase Deficiency reduce bone mineral density in postmenopausal women a systematic review and meta analysis
Osteoporosis International, 2018Co-Authors: Y Treistergoltzman, M Friger, Roni PelegAbstract:Postmenopausal osteoporosis is a significant cause of morbidity and mortality. The role of primary Lactase Deficiency (PLD) in its development is not clear. This meta-analysis showed that PLD is a risk factor for osteoporosis in postmenopausal women. These women need special attention in terms of screening for osteoporosis and its prevention. Postmenopausal osteoporosis is an important predictor of bone fractures. The purpose of the study was to conduct a systematic review and meta-analysis of association of PLD and bone mineral density (BMD) in postmenopausal women. The electronic databases PubMed, Scopus, and Web of Science were searched over the course of July 2017 for any date of publication without language limitation. Studies were included in the meta-analysis if the diagnosis of PLD was made by genetic testing or H-2 breath tests and the diagnosis of osteoporosis was made by a modern reliable method for BMD measurement. Two investigators conducted a comprehensive, independent review of all the papers. Five of the studies initially identified met the inclusion criteria. We used MOOSE guidelines for abstracting data and assessing data quality and validity. Meta-analysis was performed using the random effects model. Five case-control studies with 2223 participants and 763 Lactase-deficient cases fulfilled the inclusion criteria. Meta-analysis showed a significantly higher bone density Z-score in absorbers (mean difference 0.20, CI (0.14–0.27), P = 0.000), with no significant heterogeneity among the studies. Moreover, the Z-score in the vast majority of the measured sites (femoral head, femoral neck, lumbar spine, radius, and Ward’s triangle) was significantly higher in absorbers. There was no significant overall difference in BMD in g/cm2 between absorbers and non-absorbers, but a significantly higher BMD using g/cm2 was observed in absorbers in the total hip site. Postmenopausal women with PLD had lower Z-scores at most anatomic sites compared to healthy controls.
Irma Jarvela - One of the best experts on this subject based on the ideXlab platform.
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Four novel mutations in the Lactase gene ( LCT ) underlying congenital Lactase Deficiency (CLD)
BMC gastroenterology, 2009Co-Authors: Suvi Torniainen, Erkki Savilahti, Roberta Freddara, Taina Routi, Carolien F. M. Gijsbers, Carlo Catassi, Pia Höglund, Irma JarvelaAbstract:Background Congenital Lactase Deficiency (CLD) is a severe gastrointestinal disorder of newborns. The diagnosis is challenging and based on clinical symptoms and low Lactase activity in intestinal biopsy specimens. The disease is enriched in Finland but is also present in other parts of the world. Mutations encoding the Lactase (LCT) gene have recently been shown to underlie CLD. The purpose of this study was to identify new mutations underlying CLD in patients with different ethnic origins, and to increase awareness of this disease so that the patients could be sought out and treated correctly.
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congenital Lactase Deficiency a more common disease than previously thought
Duodecim lääketieteellinen aikakauskirja, 2009Co-Authors: Suvi Torniainen, Erkki Savilahti, Irma JarvelaAbstract:Congenital Lactase Deficiency belongs to the Finnish Disease Heritage and is a recessively inherited diarrheal disease of the newborn, in which the activity of the Lactase enzyme of the epithelial cells of the small intestine is very low ever since the birth. For the newborn infant, ingestion of lactose causes symptoms so severe that breastfeeding is not possible. Untreated disease leads to dehydration that usually requires hospitalization. Congenital Lactase Deficiency is caused by mutations in the gene coding for the Lactase enzyme (LCT). Seven mutations in a total of 43 patients have been found in Finland so far.
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mutations in the translated region of the Lactase gene lct underlie congenital Lactase Deficiency
American Journal of Human Genetics, 2006Co-Authors: Mikko Kuokkanen, Erkki Savilahti, Jorma Kokkonen, N S Enattah, Tero Ylisaukkooja, Hanna Komu, Teppo Varilo, Leena Peltonen, Irma JarvelaAbstract:Congenital Lactase Deficiency (CLD) is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. We initially assigned the CLD locus by linkage and linkage disequilibrium on 2q21 in 19 Finnish families. Here we report the molecular background of CLD via characterization of five distinct mutations in the coding region of the Lactase (LCT) gene. Twenty-seven patients out of 32 (84%) were homozygous for a nonsense mutation, c.4170T→A (Y1390X), designated “Finmajor.” Four rare mutations—two that result in a predicted frameshift and early truncation at S1666fsX1722 and S218fsX224 and two point mutations that result in substitutions Q268H and G1363S of the 1,927-aa polypeptide—confirmed the Lactase mutations as causative for CLD. These findings facilitate genetic testing in clinical practice and enable genetic counseling for this severe disease. Further, our data demonstrate that, in contrast to common adult-type hypolactasia (lactose intolerance) caused by a variant of the regulatory element, the severe infancy form represents the outcome of mutations affecting the structure of the protein inactivating the enzyme.
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assignment of the locus for congenital Lactase Deficiency to 2q21 in the vicinity of but separate from the Lactase phlorizin hydrolase gene
American Journal of Human Genetics, 1998Co-Authors: Irma Jarvela, Erkki Savilahti, Jorma Kokkonen, N S Enattah, Teppo Varilo, Leena PeltonenAbstract:Congenital Lactase Deficiency (CLD) is an autosomal recessive, gastrointestinal disorder characterized by watery diarrhea starting during the first 1-10 d of life, in infants fed lactose-containing milks. Since 1966, 42 patients have been diagnosed in Finland. CLD is the most severe form of Lactase Deficiency, with an almost total lack of Lactase-phlorizin hydrolase (LPH) activity on jejunal biopsy. In adult-type hypolactasia, the most common genetic enzyme Deficiency in humans, this enzyme activity is reduced to 5%-10%. Although the activity of intestinal LPH has been found to be greatly reduced in both forms, the molecular pathogenesis of Lactase deficiencies is unknown. On the basis of the initial candidate-gene approach, we assigned the CLD locus to an 8-cM interval on chromosome 2q21 in 19 Finnish families. At the closest marker locus, a specific allele 2 was present in 92% of disease alleles. On the basis of a genealogical study, the CLD mutation was found to be enriched in sparsely populated eastern and northern Finland, because of a founder effect. The results of both the genealogical study and the haplotype analysis indicate that one major mutation in a novel gene causes CLD in the Finnish population. Consequently, the critical region could be restricted further, to an approximately 350-kb interval, by ancient-haplotype and linkage-disequilibrium analyses. Surprisingly, the LPH gene was shown to lie outside the critical CLD region, excluding it as a causative gene for CLD. The LPH locus was found to reside >2 Mb from the critical CLD region.
Erkki Savilahti - One of the best experts on this subject based on the ideXlab platform.
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Four novel mutations in the Lactase gene ( LCT ) underlying congenital Lactase Deficiency (CLD)
BMC gastroenterology, 2009Co-Authors: Suvi Torniainen, Erkki Savilahti, Roberta Freddara, Taina Routi, Carolien F. M. Gijsbers, Carlo Catassi, Pia Höglund, Irma JarvelaAbstract:Background Congenital Lactase Deficiency (CLD) is a severe gastrointestinal disorder of newborns. The diagnosis is challenging and based on clinical symptoms and low Lactase activity in intestinal biopsy specimens. The disease is enriched in Finland but is also present in other parts of the world. Mutations encoding the Lactase (LCT) gene have recently been shown to underlie CLD. The purpose of this study was to identify new mutations underlying CLD in patients with different ethnic origins, and to increase awareness of this disease so that the patients could be sought out and treated correctly.
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congenital Lactase Deficiency a more common disease than previously thought
Duodecim lääketieteellinen aikakauskirja, 2009Co-Authors: Suvi Torniainen, Erkki Savilahti, Irma JarvelaAbstract:Congenital Lactase Deficiency belongs to the Finnish Disease Heritage and is a recessively inherited diarrheal disease of the newborn, in which the activity of the Lactase enzyme of the epithelial cells of the small intestine is very low ever since the birth. For the newborn infant, ingestion of lactose causes symptoms so severe that breastfeeding is not possible. Untreated disease leads to dehydration that usually requires hospitalization. Congenital Lactase Deficiency is caused by mutations in the gene coding for the Lactase enzyme (LCT). Seven mutations in a total of 43 patients have been found in Finland so far.
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mutations in the translated region of the Lactase gene lct underlie congenital Lactase Deficiency
American Journal of Human Genetics, 2006Co-Authors: Mikko Kuokkanen, Erkki Savilahti, Jorma Kokkonen, N S Enattah, Tero Ylisaukkooja, Hanna Komu, Teppo Varilo, Leena Peltonen, Irma JarvelaAbstract:Congenital Lactase Deficiency (CLD) is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. We initially assigned the CLD locus by linkage and linkage disequilibrium on 2q21 in 19 Finnish families. Here we report the molecular background of CLD via characterization of five distinct mutations in the coding region of the Lactase (LCT) gene. Twenty-seven patients out of 32 (84%) were homozygous for a nonsense mutation, c.4170T→A (Y1390X), designated “Finmajor.” Four rare mutations—two that result in a predicted frameshift and early truncation at S1666fsX1722 and S218fsX224 and two point mutations that result in substitutions Q268H and G1363S of the 1,927-aa polypeptide—confirmed the Lactase mutations as causative for CLD. These findings facilitate genetic testing in clinical practice and enable genetic counseling for this severe disease. Further, our data demonstrate that, in contrast to common adult-type hypolactasia (lactose intolerance) caused by a variant of the regulatory element, the severe infancy form represents the outcome of mutations affecting the structure of the protein inactivating the enzyme.
-
assignment of the locus for congenital Lactase Deficiency to 2q21 in the vicinity of but separate from the Lactase phlorizin hydrolase gene
American Journal of Human Genetics, 1998Co-Authors: Irma Jarvela, Erkki Savilahti, Jorma Kokkonen, N S Enattah, Teppo Varilo, Leena PeltonenAbstract:Congenital Lactase Deficiency (CLD) is an autosomal recessive, gastrointestinal disorder characterized by watery diarrhea starting during the first 1-10 d of life, in infants fed lactose-containing milks. Since 1966, 42 patients have been diagnosed in Finland. CLD is the most severe form of Lactase Deficiency, with an almost total lack of Lactase-phlorizin hydrolase (LPH) activity on jejunal biopsy. In adult-type hypolactasia, the most common genetic enzyme Deficiency in humans, this enzyme activity is reduced to 5%-10%. Although the activity of intestinal LPH has been found to be greatly reduced in both forms, the molecular pathogenesis of Lactase deficiencies is unknown. On the basis of the initial candidate-gene approach, we assigned the CLD locus to an 8-cM interval on chromosome 2q21 in 19 Finnish families. At the closest marker locus, a specific allele 2 was present in 92% of disease alleles. On the basis of a genealogical study, the CLD mutation was found to be enriched in sparsely populated eastern and northern Finland, because of a founder effect. The results of both the genealogical study and the haplotype analysis indicate that one major mutation in a novel gene causes CLD in the Finnish population. Consequently, the critical region could be restricted further, to an approximately 350-kb interval, by ancient-haplotype and linkage-disequilibrium analyses. Surprisingly, the LPH gene was shown to lie outside the critical CLD region, excluding it as a causative gene for CLD. The LPH locus was found to reside >2 Mb from the critical CLD region.
M Friger - One of the best experts on this subject based on the ideXlab platform.
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does primary Lactase Deficiency reduce bone mineral density in postmenopausal women a systematic review and meta analysis
Osteoporosis International, 2018Co-Authors: Y Treistergoltzman, M Friger, Roni PelegAbstract:Summary Postmenopausal osteoporosis is a significant cause of morbidity and mortality. The role of primary Lactase Deficiency (PLD) in its development is not clear. This meta-analysis showed that PLD is a risk factor for osteoporosis in postmenopausal women. These women need special attention in terms of screening for osteoporosis and its prevention.
-
does primary Lactase Deficiency reduce bone mineral density in postmenopausal women a systematic review and meta analysis
Osteoporosis International, 2018Co-Authors: Y Treistergoltzman, M Friger, Roni PelegAbstract:Postmenopausal osteoporosis is a significant cause of morbidity and mortality. The role of primary Lactase Deficiency (PLD) in its development is not clear. This meta-analysis showed that PLD is a risk factor for osteoporosis in postmenopausal women. These women need special attention in terms of screening for osteoporosis and its prevention. Postmenopausal osteoporosis is an important predictor of bone fractures. The purpose of the study was to conduct a systematic review and meta-analysis of association of PLD and bone mineral density (BMD) in postmenopausal women. The electronic databases PubMed, Scopus, and Web of Science were searched over the course of July 2017 for any date of publication without language limitation. Studies were included in the meta-analysis if the diagnosis of PLD was made by genetic testing or H-2 breath tests and the diagnosis of osteoporosis was made by a modern reliable method for BMD measurement. Two investigators conducted a comprehensive, independent review of all the papers. Five of the studies initially identified met the inclusion criteria. We used MOOSE guidelines for abstracting data and assessing data quality and validity. Meta-analysis was performed using the random effects model. Five case-control studies with 2223 participants and 763 Lactase-deficient cases fulfilled the inclusion criteria. Meta-analysis showed a significantly higher bone density Z-score in absorbers (mean difference 0.20, CI (0.14–0.27), P = 0.000), with no significant heterogeneity among the studies. Moreover, the Z-score in the vast majority of the measured sites (femoral head, femoral neck, lumbar spine, radius, and Ward’s triangle) was significantly higher in absorbers. There was no significant overall difference in BMD in g/cm2 between absorbers and non-absorbers, but a significantly higher BMD using g/cm2 was observed in absorbers in the total hip site. Postmenopausal women with PLD had lower Z-scores at most anatomic sites compared to healthy controls.
