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J C Rambaud - One of the best experts on this subject based on the ideXlab platform.
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bacterial populations contaminating the upper gut in patients with small intestinal bacterial Overgrowth Syndrome
The American Journal of Gastroenterology, 1999Co-Authors: Yoram Bouhnik, Sophie Alain, Alain Attar, Bernard Flourie, Laurent Raskine, Marie Jose Sansonle Pors, J C RambaudAbstract:Bacterial populations contaminating the upper gut in patients with small intestinal bacterial Overgrowth Syndrome
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Original ContributionsBacterial populations contaminating the upper gut in patients with small intestinal bacterial Overgrowth Syndrome
The American Journal of Gastroenterology, 1999Co-Authors: Yoram Bouhnik, Sophie Alain, Alain Attar, Bernard Flourie, Laurent Raskine, Marie Jose Sansonle Pors, J C RambaudAbstract:OBJECTIVE: Small intestinal bacterial Overgrowth Syndrome (SIBOS) is characterized by an abnormally high bacterial population level in the upper gut, exceeding 105 organisms/ml (5 log colony-forming unit (CFU)/ml). To understand its origin and select an appropriate antibiotic treatment, we have analyzed the bacterial populations contaminating the upper gut in SIBOS patients. METHODS: Jejunal samples of 63 consecutive patients with diarrhea or malabsorption and conditions predisposing to SIBOS were cultured and antibiotic sensitivities determined. RESULTS: Concentrations of total, microaerophilic, and anaerobic bacteria were confirmed in 55 patients with SIBOS (mean ± SE) 7.6 ± 0.8, 7.4 ± 0.9, and 6.1 ± 0.7 log CFU/ml, respectively. Mean number of bacterial genera was 4.6 ± 0.8. The main bacteria recovered were (mean ± SE log CFU/ml) Streptococcus (71%; 6.4 ± 0.8), Escherichia coli (69%; 7.2 ± 0.9), Staphylococcus (25%; 6.2 ± 0.6), Micrococcus (22%; 6.0 ± 0.7), Klebsiella (20%; 7.1 ± 0.8), Proteus (11%; 6.1 ± 0.8) for microaerophilic bacteria, and Lactobacillus (75%; 6.1 ± 1.1), Bacteroides (29%; 6.9 ± 1.3), Clostridium (25%; 5.5 ± 1.0), Veillonella (25%; 5.3 ± 0.7), Fusobacterium (13%; 4.8 ± 0.5), and Peptostreptococcus (13%; 6.1 ± 0.7) for anaerobic bacteria. Amoxicillin–clavulanic acid and cefoxitin were efficient on >90% of strains. CONCLUSIONS: Contaminating flora isolated in SIBOS include commonly identified oropharyngeal and colonic flora, but these occur in SIBOS at different levels from those usually found in their original location. These data may hopefully serve as a starting point to further therapeutic controlled studies.
Edwin H. Cook - One of the best experts on this subject based on the ideXlab platform.
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de novo unbalanced translocation 4p duplication 8p deletion in a patient with autism ocd and Overgrowth Syndrome
American Journal of Medical Genetics Part A, 2017Co-Authors: Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J. Guter, Carol Macmillan, Edwin H. CookAbstract:Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. (2011) Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. (2010) Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al. (2002) Circulation 102: 432-437]. Deletions of 4p16 have been associated with Wolf-Hirschhorn Syndrome while 4p16 duplications have been associated with an Overgrowth Syndrome and mild to moderate mental retardation [Partington et al. (1997) Journal of Medical Genetics 34: 719-728]. The 8p23.3 region contains the autism candidate gene DLGAP2, which can contribute to autism when disrupted [Marshall et al. (2008) The American Journal of Human Genetics 82: 477-488] . There has been a case report of a family with autism spectrum disorder (ASD), prominent obsessional behavior, and Overgrowth in patients with der (8) t (4;8) p (16;23) [Partington et al. (1997)]. This is an independent report of a male patient with autism, obsessive compulsive disorder (OCD), attention-deficit hyperactivity disorder (ADHD), and an Overgrowth Syndrome, whose de novo unbalanced translocation der (8) t (4;8) p (16.1→ter; 23.1→ter) was initially missed by routine cytogenetics but detected with SNP microarray, allowing higher resolution of translocation breakpoints.
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De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and Overgrowth Syndrome.
American Journal of Medical Genetics Part A, 2017Co-Authors: Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J. Guter, Carol Macmillan, Edwin H. CookAbstract:Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. (2011) Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. (2010) Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al. (2002) Circulation 102: 432-437]. Deletions of 4p16 have been associated with Wolf-Hirschhorn Syndrome while 4p16 duplications have been associated with an Overgrowth Syndrome and mild to moderate mental retardation [Partington et al. (1997) Journal of Medical Genetics 34: 719-728]. The 8p23.3 region contains the autism candidate gene DLGAP2, which can contribute to autism when disrupted [Marshall et al. (2008) The American Journal of Human Genetics 82: 477-488] . There has been a case report of a family with autism spectrum disorder (ASD), prominent obsessional behavior, and Overgrowth in patients with der (8) t (4;8) p (16;23) [Partington et al. (1997)]. This is an independent report of a male patient with autism, obsessive compulsive disorder (OCD), attention-deficit hyperactivity disorder (ADHD), and an Overgrowth Syndrome, whose de novo unbalanced translocation der (8) t (4;8) p (16.1→ter; 23.1→ter) was initially missed by routine cytogenetics but detected with SNP microarray, allowing higher resolution of translocation breakpoints.
Robert M. Craig - One of the best experts on this subject based on the ideXlab platform.
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Small intestinal bacterial Overgrowth Syndrome
Current Treatment Options in Gastroenterology, 2001Co-Authors: Jeffery S. Meyers, Eli D. Ehrenpreis, Robert M. CraigAbstract:Small intestinal bacterial Overgrowth is found in many conditions and may present with malabsorption, diarrhea, and malnutrition. Whereas dietary modifications and supplements might help, the primary treatment strategy is the judicious use of antibiotics. The most effective antibiotics, shown either empirically or by clinical trials, are the quinolones, tetracycline, amoxicillin with clavulanic acid, clindamycin, and metronidazole. In an unpredictable fashion, some patients fail to respond to one of these antibiotics, but often will respond to a second. These conditions are often chronic and require periodic or cyclical treatment. In some conditions seen in the elderly or in hypochlorhydric patients the small intestinal bacterial Overgrowth is inconsequential and does not require therapy. Surgical management is reserved for the select situations in which there is a clear-cut structural defect.
Kenjiro Kosaki - One of the best experts on this subject based on the ideXlab platform.
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Kosaki Overgrowth Syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta.
American Journal of Medical Genetics Part C-seminars in Medical Genetics, 2019Co-Authors: Toshiki Takenouchi, Hironobu Okuno, Kenjiro KosakiAbstract:Specific classes of de novo heterozygous gain-of-function pathogenic variants of the PDGFRB (platelet-derived growth factor receptor-beta) cause a distinctive Overgrowth Syndrome, named the Kosaki Overgrowth Syndrome (KOGS) (OMIM #616592). Until now, six patients with this condition have been reported in the literature. In addition to skeletal Overgrowth, these patients exhibit hyperelastic, translucent, and fragile skin, scoliosis, progressive loss of subcutaneous adipose tissue, skull deformity, infantile myofibromas, neuropsychiatric symptoms, and arachnoid cysts in the posterior fossa and periventricular white matter signal abnormalities on neuroimaging. This constellation of phenotypes clearly distinguishes KOGS from other PDGFRB-related disorders, including idiopathic basal ganglia calcification, infantile myofibroma, and Penttinen-type premature aging Syndrome. From a molecular standpoint, PDGFRB is a dimeric receptor tyrosine kinase that plays critical roles in cell growth and tumorigenesis. The two known types of pathogenic variants (p.(Pro584Arg) and p.(Trp566Arg)) of the PDGFRB that cause KOGS are exclusively located in the juxtaglomerular domain that regulates autoactivation/inhibition of PDGFRB. In-vitro evidence suggests that p.(Pro584Arg) represents a gain-of-function pathogenic variant. Inhibition of PDGFRB activity using multi-kinase inhibitors appears to be a potentially promising therapeutic approach. Investigation of the molecular mechanisms underlying the pathogenesis of this disease using induced pluripotent stem cells is under way. Presence of skeletal Overgrowth, distinctive facial features, characteristic hyperelastic and fragile skin, and cerebral white matter lesions with neuropsychiatric symptoms should prompt genetic analysis of the PDGFRB.
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Expansion of the phenotype of Kosaki Overgrowth Syndrome.
American Journal of Medical Genetics Part A, 2017Co-Authors: Mari Minatogawa, Toshiki Takenouchi, Yu Tsuyusaki, Fuminori Iwasaki, Tomoko Uehara, Kenji Kurosawa, Kenjiro Kosaki, Cynthia J. CurryAbstract:Skeletal Overgrowth is a characteristic of several genetic disorders that are linked to specific molecular signaling cascades. Recently, we established a novel Overgrowth Syndrome (Kosaki Overgrowth Syndrome, OMIM #616592) arising from a de novo mutation in PDGFRB, that is, c.1751C>G p.(Pro584Arg). Subsequently, other investigators provided in vitro molecular evidence that this specific mutation in the juxtamembrane domain of PDGFRB causes an Overgrowth phenotype and is the first gain-of-function point mutation of PDGFRB to be reported in humans. Here, we report the identification of a mutation in PDGFRB, c.1696T>C p.(Trp566Arg), in two unrelated patients with skeletal Overgrowth, further confirming the existence of PDGFRB-related Overgrowth Syndrome arising from mutations in the juxtamembrane domain of PDGFRB. A review of all four of these patients with an Overgrowth phenotype and PDGFRB mutations revealed postnatal skeletal Overgrowth, premature aging, cognitive impairment, neurodegeneration, and a prominent connective tissue component to this complex phenotype. From a functional standpoint, hypermorphic mutations in PDGFRB lead to Kosaki Overgrowth Syndrome, infantile myofibromatosis (OMIM #228550), and Penttinen Syndrome (OMIM #601812), whereas hypomorphic mutations lead to idiopathic basal ganglia calcification (OMIM #615007). In conclusion, a specific class of mutations in PDGFRB causes a clinically recognizable syndromic form of skeletal Overgrowth.
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acute myeloid leukemia associated dnmt3a p arg882his mutation in a patient with tatton brown rahman Overgrowth Syndrome as a constitutional mutation
American Journal of Medical Genetics Part A, 2017Co-Authors: Rika Kosaki, Hiroshi Terashima, Masaya Kubota, Kenjiro KosakiAbstract:DNA methylation plays a critical role in both embryonic development and tumorigenesis and is mediated through various DNA methyltransferases. Constitutional mutations in the de novo DNA methyltransferase DNMT3A cause a recently identified Tatton-Brown–Rahman Overgrowth Syndrome (TBRS). Somatically acquired mutations in DNMT3A are causally associated with acute myeloid leukemia (AML), and p.Arg882His represents the most prevalent hotspot. So far, no patients with TBRS have been reported to have subsequently developed AML. Here, we report a live birth and the survival of a female with the TBRS phenotype who had a heterozygous constitutional DNMT3A mutation at the AML somatic mutation hotspot p.Arg882His in her DNA from peripheral blood and buccal tissue. Her characteristic features at birth included hypotonia, narrow palpebral fissures, ventricular septal defect, umbilical hernia, sacral cyst, Chiari type I anomaly. At the age of 6 years, she exhibited Overgrowth (> 3 SD) and round face and intellectual disability. This report represents the first documentation of the same variant (DNMT3A p.Arg882His) as both the constitutional mutation associated with TBRS and the somatic mutation hotspot of AML. The observation neither confirms nor denies the notion that mutations responsible for TBRS and those for AML might share the same mode of action. Larger data sets are required to determine whether TBRS patients with constitutional DNMT3A mutations are at an increased risk for AML. © 2016 Wiley Periodicals, Inc.
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Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown–Rahman Overgrowth Syndrome as a constitutional mutation
American Journal of Medical Genetics Part A, 2016Co-Authors: Rika Kosaki, Hiroshi Terashima, Masaya Kubota, Kenjiro KosakiAbstract:DNA methylation plays a critical role in both embryonic development and tumorigenesis and is mediated through various DNA methyltransferases. Constitutional mutations in the de novo DNA methyltransferase DNMT3A cause a recently identified Tatton-Brown–Rahman Overgrowth Syndrome (TBRS). Somatically acquired mutations in DNMT3A are causally associated with acute myeloid leukemia (AML), and p.Arg882His represents the most prevalent hotspot. So far, no patients with TBRS have been reported to have subsequently developed AML. Here, we report a live birth and the survival of a female with the TBRS phenotype who had a heterozygous constitutional DNMT3A mutation at the AML somatic mutation hotspot p.Arg882His in her DNA from peripheral blood and buccal tissue. Her characteristic features at birth included hypotonia, narrow palpebral fissures, ventricular septal defect, umbilical hernia, sacral cyst, Chiari type I anomaly. At the age of 6 years, she exhibited Overgrowth (> 3 SD) and round face and intellectual disability. This report represents the first documentation of the same variant (DNMT3A p.Arg882His) as both the constitutional mutation associated with TBRS and the somatic mutation hotspot of AML. The observation neither confirms nor denies the notion that mutations responsible for TBRS and those for AML might share the same mode of action. Larger data sets are required to determine whether TBRS patients with constitutional DNMT3A mutations are at an increased risk for AML. © 2016 Wiley Periodicals, Inc.
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Novel Overgrowth Syndrome phenotype due to recurrent de novo PDGFRB mutation.
The Journal of Pediatrics, 2014Co-Authors: Toshiki Takenouchi, Yu Yamaguchi, Akiko Tanikawa, Rika Kosaki, Hideyuki Okano, Kenjiro KosakiAbstract:Using exome analysis, we identified a novel Overgrowth Syndrome arising from a mutation in PDGFRB, which plays a critical role in growth and differentiation. This entity is characterized by somatic Overgrowth, distinctive facial features, hyperelastic and fragile skin, white matter lesions, and neurologic deterioration.
Yoram Bouhnik - One of the best experts on this subject based on the ideXlab platform.
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bacterial populations contaminating the upper gut in patients with small intestinal bacterial Overgrowth Syndrome
The American Journal of Gastroenterology, 1999Co-Authors: Yoram Bouhnik, Sophie Alain, Alain Attar, Bernard Flourie, Laurent Raskine, Marie Jose Sansonle Pors, J C RambaudAbstract:Bacterial populations contaminating the upper gut in patients with small intestinal bacterial Overgrowth Syndrome
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Original ContributionsBacterial populations contaminating the upper gut in patients with small intestinal bacterial Overgrowth Syndrome
The American Journal of Gastroenterology, 1999Co-Authors: Yoram Bouhnik, Sophie Alain, Alain Attar, Bernard Flourie, Laurent Raskine, Marie Jose Sansonle Pors, J C RambaudAbstract:OBJECTIVE: Small intestinal bacterial Overgrowth Syndrome (SIBOS) is characterized by an abnormally high bacterial population level in the upper gut, exceeding 105 organisms/ml (5 log colony-forming unit (CFU)/ml). To understand its origin and select an appropriate antibiotic treatment, we have analyzed the bacterial populations contaminating the upper gut in SIBOS patients. METHODS: Jejunal samples of 63 consecutive patients with diarrhea or malabsorption and conditions predisposing to SIBOS were cultured and antibiotic sensitivities determined. RESULTS: Concentrations of total, microaerophilic, and anaerobic bacteria were confirmed in 55 patients with SIBOS (mean ± SE) 7.6 ± 0.8, 7.4 ± 0.9, and 6.1 ± 0.7 log CFU/ml, respectively. Mean number of bacterial genera was 4.6 ± 0.8. The main bacteria recovered were (mean ± SE log CFU/ml) Streptococcus (71%; 6.4 ± 0.8), Escherichia coli (69%; 7.2 ± 0.9), Staphylococcus (25%; 6.2 ± 0.6), Micrococcus (22%; 6.0 ± 0.7), Klebsiella (20%; 7.1 ± 0.8), Proteus (11%; 6.1 ± 0.8) for microaerophilic bacteria, and Lactobacillus (75%; 6.1 ± 1.1), Bacteroides (29%; 6.9 ± 1.3), Clostridium (25%; 5.5 ± 1.0), Veillonella (25%; 5.3 ± 0.7), Fusobacterium (13%; 4.8 ± 0.5), and Peptostreptococcus (13%; 6.1 ± 0.7) for anaerobic bacteria. Amoxicillin–clavulanic acid and cefoxitin were efficient on >90% of strains. CONCLUSIONS: Contaminating flora isolated in SIBOS include commonly identified oropharyngeal and colonic flora, but these occur in SIBOS at different levels from those usually found in their original location. These data may hopefully serve as a starting point to further therapeutic controlled studies.
