- Email: [email protected]
Marfan syndrome and liability to psychosis
Correspondence
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[8] Castillo-Romero JL, Vives-Montero F, Reiter RJ, Acuna-Castroviejo D. Pineal modulation of the rat caudate-putamen spontaneous neuronal activity: roles of melatonin and vasotocin. J Pineal Res 1993;15: 147–52.
Mohammadali M. Shoja Tuberculosis and Lung Research Center, Tabriz Medical University, No. 9, Bonbast-e-Jhaleh, Qatran-e-Shomaly Ave., Tabriz 51738, Iran Tel.: +98 411 4443502; fax: +98 411 4438523 E-mail address: [email protected]
R. Shane Tubbs Department of Cell Biology, Section of Pediatric Neurosurgery, University of Alabama and Children’s Hospital Birmingham, Alabama, USA Khalil Ansarin Tuberculosis and Lung Research Center, Tabriz Medical University, Daneshgah St., Tabriz, Iran
doi:10.1016/j.mehy.2006.12.021
Marfan syndrome and liability to psychosis Dear Editor, Marfan syndrome (MFS) is a rare heritable disorder that affects the connective tissue [1]. The genetic defect causing the MFS can be inherited from a parent, who also has the condition (75%), or can occur only in the germinal cell of an unaffected parent (a ‘‘de novo mutation’’) (25%) [3]. MFS is caused by defects (mutations) in the gene that codes fibrillin 1 (FBN1), a protein necessary in the formation of collagen and elastic fibres and constitutive of connective tissue [2]. Since all tissues contain connective tissue, the clinical manifestations of MFS involve multiple tissues, especially in the bones and ligaments (the skeletal system), the eyes (the ocular system), the heart and blood vessels (the cardiovascular system), the lungs (the pulmonary system), and the fibrous membrane covering the brain and spinal cord (the nervous system) [1]. However, few papers in the literature have assessed the psychiatric effects of MFS. We hypothesise that a subgroup of patients with MFS share an increased risk to develop psychosis over the course of the disease. There are multiple lines of evidence supporting our hypothesis. First, enlargement of the ventricles (evaluated by neuroimaging technique as MRI), which is relatively common in schizophrenic patients [3], has also been observed in MFS [4]. Second, locus
15q21, associate to the MFS, has been investigated in linkage studies on families with schizophrenia [5]. Third, a number of studies underlined the presence of neuropsychological deficits (i.e deficit of visual attention and visuoconstruction) during the development of subjects suffering MFS [6,7]. These abnormalities parallel the ones observed during the early phases of psychosis [8]. Future research is welcomed to address the epidemiological association between MFS and mental disorders in order to clarify whether psychiatric symptoms are part of the Marfan syndrome or merely incidental to it.
References [1] Judge DP, Dietz HC. Marfan’s syndrome. Lancet 2005;366: 1965–76. [2] Boileau C, Jondeau G, Mizugucihi T. Molecular genetics of Marfan syndrome. Curr Opin Cardiol 2005;20:194–200. [3] Wright IC, Rabe-Hesketh S, Woodruff PW, David AS, Murray ET, Bullmore ET. Meta-analysis of regional brain volumes in schizophrenia. Am J Psychiat 2000;157:16–25. [4] Romano J, Linares RL. Marfan’s syndrome and schizophrenia: a case report. Arch Gen Psychiat 1987;44: 190–2. [5] Kalsi G, Mankoo BS, Brynjolfsson J, Curtis D, Read T, Murphy P, et al. The Marfan syndrome gene locus as a favoured locus for susceptibility to schizophrenia. Psychiatr Genet 1994;4:219–27.
1174 [6] Hofman KJ, Bernhardt BA, Pyeritz RE. Marfan syndrome: neuropsychological aspects. Am J Med Genet 1988;31: 331–8. [7] Lannoo E, De Paepe A, Leroy B, Thiery E. Neuropsychological aspects of Marfan syndrome. Clin Genet 1996;49: 65–9. [8] Barnett JH, Sahakian BJ, Werners U, Hill KE, Brazil R, Gallagher O, et al. Visuospatial learning and executive function are independently impaired in first-episode psychosis. Psychol Med 2005;35(7): 1031–41.
Correspondence F. Stramesi * P. Politi P. Fusar-Poli Department of Applied and Psychobehavioural Health Sciences, University of Pavia, via Bassi 21, 27100 Pavia, Italy * Tel.: +39 0382 987250; fax: +39 0382 526 723. E-mail address: [email protected] (F. Stramesi).
doi:10.1016/j.mehy.2006.11.019
Eradication of Helicobacter pylori might halt the progress to oesophageal adenocarcinoma in patients with gastro-oesophageal reflux disease and Barrett’s oesophagus
Previously rare, oesophageal adenocarcinoma (OA) is now the most common oesophageal malignancy in Western countries, including the United States and England, its incidence increasing faster than any other cancer [1]. Barrett’s oesophagus (BO) is a complication of long-standing gastro-oesophageal reflux disease (GORD) and well-recognised premalignant condition playing a pivotal role in OA development [1]; GORD plays a crucial role in the pathophysiology and the clinical identification of BO which represents the most serious histologic consequence of chronic GORD [1]. In this regard, our recent data show that Helicobacter pylori (H. pylori) is frequent in GORD and even in non-endoscopical reflux disease (NERD) [2,3], and H. pylori eradication leads to better control of GORD symptoms and improves oesophagitis [2]. Other authors [2] also reported improvement in reflux symptoms following H. pylori treatment. A great body of recent evidence further potentiates the concern that H. pylori is not ‘‘protective’’ against GORD [2]. H. pylori may contribute to GORD pathogenesis by several mechanisms including release of several mediators, cytokines and nitric oxide which may adversely affect the lower oesophageal sphincter (LOS); direct damage of the oesophageal mucosa by bacterial products; increased
production of prostaglandins that sensitise afferent nerves and reduce LOS pressure; and augmented acidity (by gastrin release) that exacerbate GORD [2]. Gastrin is an oncogenic growth factor contributing to oesophageal, gastric and colon carcinogenesis; gastrin stimulates receptor-mediated proliferation of human OA cells, shows antiapoptotic activity through upregulation of Bcl-2 and survivin and upregulates cyclooxygenase (COX)-2 expression. H. pylori infection activates NF-jB, an oxidant-sensitive transcription regulator of inducible expression of inflammatory genes such as COX-2, which regulates gastrointestinal cancer cell growth and proliferation. In particular, H. pylori infection induced NF-jB and COX-2 expression in oesophageal epithelial cells, playing a role in inflammation and tumorigenesis in the oesophagus [4]. Moreover, recent evidence indicates that: (a) H. pylori infection prevalence is high in BO; (b) cagA-positive H. pylori infection is not associated with decreased risk of BO; (c) the expected incidence of OA with persistent H. pylori infection is higher than that of OA after eradication of infection [5]; and (d) H. pylori induces Ki-67 expression and increased oesophageal expression of Ki-67 observed in BO patients compared with GORD controls. Ki-67 proliferation fraction increases significantly from
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[8] Castillo-Romero JL, Vives-Montero F, Reiter RJ, Acuna-Castroviejo D. Pineal modulation of the rat caudate-putamen spontaneous neuronal activity: roles of melatonin and vasotocin. J Pineal Res 1993;15: 147–52.
Mohammadali M. Shoja Tuberculosis and Lung Research Center, Tabriz Medical University, No. 9, Bonbast-e-Jhaleh, Qatran-e-Shomaly Ave., Tabriz 51738, Iran Tel.: +98 411 4443502; fax: +98 411 4438523 E-mail address: [email protected]
R. Shane Tubbs Department of Cell Biology, Section of Pediatric Neurosurgery, University of Alabama and Children’s Hospital Birmingham, Alabama, USA Khalil Ansarin Tuberculosis and Lung Research Center, Tabriz Medical University, Daneshgah St., Tabriz, Iran
doi:10.1016/j.mehy.2006.12.021
Marfan syndrome and liability to psychosis Dear Editor, Marfan syndrome (MFS) is a rare heritable disorder that affects the connective tissue [1]. The genetic defect causing the MFS can be inherited from a parent, who also has the condition (75%), or can occur only in the germinal cell of an unaffected parent (a ‘‘de novo mutation’’) (25%) [3]. MFS is caused by defects (mutations) in the gene that codes fibrillin 1 (FBN1), a protein necessary in the formation of collagen and elastic fibres and constitutive of connective tissue [2]. Since all tissues contain connective tissue, the clinical manifestations of MFS involve multiple tissues, especially in the bones and ligaments (the skeletal system), the eyes (the ocular system), the heart and blood vessels (the cardiovascular system), the lungs (the pulmonary system), and the fibrous membrane covering the brain and spinal cord (the nervous system) [1]. However, few papers in the literature have assessed the psychiatric effects of MFS. We hypothesise that a subgroup of patients with MFS share an increased risk to develop psychosis over the course of the disease. There are multiple lines of evidence supporting our hypothesis. First, enlargement of the ventricles (evaluated by neuroimaging technique as MRI), which is relatively common in schizophrenic patients [3], has also been observed in MFS [4]. Second, locus
15q21, associate to the MFS, has been investigated in linkage studies on families with schizophrenia [5]. Third, a number of studies underlined the presence of neuropsychological deficits (i.e deficit of visual attention and visuoconstruction) during the development of subjects suffering MFS [6,7]. These abnormalities parallel the ones observed during the early phases of psychosis [8]. Future research is welcomed to address the epidemiological association between MFS and mental disorders in order to clarify whether psychiatric symptoms are part of the Marfan syndrome or merely incidental to it.
References [1] Judge DP, Dietz HC. Marfan’s syndrome. Lancet 2005;366: 1965–76. [2] Boileau C, Jondeau G, Mizugucihi T. Molecular genetics of Marfan syndrome. Curr Opin Cardiol 2005;20:194–200. [3] Wright IC, Rabe-Hesketh S, Woodruff PW, David AS, Murray ET, Bullmore ET. Meta-analysis of regional brain volumes in schizophrenia. Am J Psychiat 2000;157:16–25. [4] Romano J, Linares RL. Marfan’s syndrome and schizophrenia: a case report. Arch Gen Psychiat 1987;44: 190–2. [5] Kalsi G, Mankoo BS, Brynjolfsson J, Curtis D, Read T, Murphy P, et al. The Marfan syndrome gene locus as a favoured locus for susceptibility to schizophrenia. Psychiatr Genet 1994;4:219–27.
1174 [6] Hofman KJ, Bernhardt BA, Pyeritz RE. Marfan syndrome: neuropsychological aspects. Am J Med Genet 1988;31: 331–8. [7] Lannoo E, De Paepe A, Leroy B, Thiery E. Neuropsychological aspects of Marfan syndrome. Clin Genet 1996;49: 65–9. [8] Barnett JH, Sahakian BJ, Werners U, Hill KE, Brazil R, Gallagher O, et al. Visuospatial learning and executive function are independently impaired in first-episode psychosis. Psychol Med 2005;35(7): 1031–41.
Correspondence F. Stramesi * P. Politi P. Fusar-Poli Department of Applied and Psychobehavioural Health Sciences, University of Pavia, via Bassi 21, 27100 Pavia, Italy * Tel.: +39 0382 987250; fax: +39 0382 526 723. E-mail address: [email protected] (F. Stramesi).
doi:10.1016/j.mehy.2006.11.019
Eradication of Helicobacter pylori might halt the progress to oesophageal adenocarcinoma in patients with gastro-oesophageal reflux disease and Barrett’s oesophagus
Previously rare, oesophageal adenocarcinoma (OA) is now the most common oesophageal malignancy in Western countries, including the United States and England, its incidence increasing faster than any other cancer [1]. Barrett’s oesophagus (BO) is a complication of long-standing gastro-oesophageal reflux disease (GORD) and well-recognised premalignant condition playing a pivotal role in OA development [1]; GORD plays a crucial role in the pathophysiology and the clinical identification of BO which represents the most serious histologic consequence of chronic GORD [1]. In this regard, our recent data show that Helicobacter pylori (H. pylori) is frequent in GORD and even in non-endoscopical reflux disease (NERD) [2,3], and H. pylori eradication leads to better control of GORD symptoms and improves oesophagitis [2]. Other authors [2] also reported improvement in reflux symptoms following H. pylori treatment. A great body of recent evidence further potentiates the concern that H. pylori is not ‘‘protective’’ against GORD [2]. H. pylori may contribute to GORD pathogenesis by several mechanisms including release of several mediators, cytokines and nitric oxide which may adversely affect the lower oesophageal sphincter (LOS); direct damage of the oesophageal mucosa by bacterial products; increased
production of prostaglandins that sensitise afferent nerves and reduce LOS pressure; and augmented acidity (by gastrin release) that exacerbate GORD [2]. Gastrin is an oncogenic growth factor contributing to oesophageal, gastric and colon carcinogenesis; gastrin stimulates receptor-mediated proliferation of human OA cells, shows antiapoptotic activity through upregulation of Bcl-2 and survivin and upregulates cyclooxygenase (COX)-2 expression. H. pylori infection activates NF-jB, an oxidant-sensitive transcription regulator of inducible expression of inflammatory genes such as COX-2, which regulates gastrointestinal cancer cell growth and proliferation. In particular, H. pylori infection induced NF-jB and COX-2 expression in oesophageal epithelial cells, playing a role in inflammation and tumorigenesis in the oesophagus [4]. Moreover, recent evidence indicates that: (a) H. pylori infection prevalence is high in BO; (b) cagA-positive H. pylori infection is not associated with decreased risk of BO; (c) the expected incidence of OA with persistent H. pylori infection is higher than that of OA after eradication of infection [5]; and (d) H. pylori induces Ki-67 expression and increased oesophageal expression of Ki-67 observed in BO patients compared with GORD controls. Ki-67 proliferation fraction increases significantly from