Quality of life in patients with depression, panic syndrome, other anxiety syndrome, alcoholism and chronic somatic diseases: a longitudinal study in Slovenian primary care patients.

Science.gov (United States)

Cerne, Anja; Rifel, Janez; Rotar-Pavlic, Danica; Svab, Igor; Selic, Polona; Kersnik, Janko

2013-01-01

To analyse the correlates between the quality of life and chronic diseases and socio-demographic characteristics of patients in family medicine with a special emphasis on depression, panic syndrome, other anxiety syndrome and alcoholism. In a longitudinal study, the data set of 516 family practice attendees recruited from 60 family practices was analysed. Depression, panic syndrome, other anxiety syndrome and alcoholism were diagnosed using appropriate diagnostic interviews. Quality of life was assessed using the SF-12 questionnaire, measuring a mental health score and a physical health score. Data about the number of chronic somatic diseases were obtained from the patients' medical records. Physical health score was negatively associated with higher age (β = -0.25, p chronic somatic diseases (β = -0.10, p chronic somatic diseases as they are associated with poorer quality of life.

As good as it gets? A meta-analysis and systematic review of methodological quality of heart rate variability studies in functional somatic disorders

NARCIS (Netherlands)

Tak, L.M.; Riese, H.; de Bock, G.H.; Manoharan, A.; Kok, I.C.; Rosmalen, J.G.M.

2009-01-01

Autonomic nervous system (ANS) dysfunction is a potential mechanism connecting psychosocial stress to functional somatic disorders (FSD), such as chronic fatigue syndrome, fibromyalgia and irritable bowel syndrome. We present the first meta-analysis and systematic review of methodological study

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects

NARCIS (Netherlands)

A.F. Daly (Adrian); B. Yuan (Bo); Fina, F. (Frederic); J.-H. Caberg (Jean-Hubert); G. Trivellin (Giampaolo); L. Rostomyan (Liliya); W.W. de Herder (Wouter); L.A. Naves (Lucianna); D. Metzger (Daniel); T. Cuny (Thomas); Rabl, W. (Wolfgang); N.S. Shah (Nalini Samir); M-L. Jaffrain-Rea (Marie-Lise); Chiara Zatelli, M. (Maria); F.R. Faucz (Fabio R.); E. Castermans (Emilie); Nanni-Metellus, I. (Isabelle); Lodish, M. (Maya); A. Muhammad (Ammar); Palmeira, L. (Leonor); Potorac, I. (Iulia); G. Mantovani (Giovanna); S.J.C.M.M. Neggers (Bas); Klein, M. (Marc); A. Barlier (Anne); P. Liu (Pengfei); Ouafik, L. (L'houcine); V. Bours (Vincent); Lupski, J.R. (James R.); C.A. Stratakis (Constantine); A. Beckers (Albert)

2016-01-01

textabstractSomatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG)syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic

Somatic symptom disorder

Science.gov (United States)

... related disorders; Somatization disorder; Somatiform disorders; Briquet syndrome; Illness anxiety disorder References American Psychiatric Association. Somatic symptom disorder. Diagnostic and Statistical Manual of Mental Disorders . ...

Cognitive functioning of adults with Noonan syndrome: A case-control study

NARCIS (Netherlands)

Wingbermühle, P.A.M.; Roelofs, R.L.; Burgt, C.J.A.M. van der; Souren, P.M.; Verhoeven, W.M.A.; Kessels, R.P.C.; Egger, J.I.M.

2012-01-01

Noonan syndrome (NS) is a genetic disorder characterised by short stature, facial dysmorphia, congenital heart defects and mildly lowered intellectual abilities. Research has mainly focused on genetic and somatic aspects, while intellectual and cognitive functioning has been documented scarcely.

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

Science.gov (United States)

Dowdell, Kennichi C; Niemela, Julie E; Price, Susan; Davis, Joie; Hornung, Ronald L; Oliveira, João Bosco; Puck, Jennifer M; Jaffe, Elaine S; Pittaluga, Stefania; Cohen, Jeffrey I; Fleisher, Thomas A; Rao, V Koneti

2010-06-24

Autoimmune lymphoproliferative syndrome (ALPS) is characterized by childhood onset of lymphadenopathy, hepatosplenomegaly, autoimmune cytopenias, elevated numbers of double-negative T (DNT) cells, and increased risk of lymphoma. Most cases of ALPS are associated with germline mutations of the FAS gene (type Ia), whereas some cases have been noted to have a somatic mutation of FAS primarily in their DNT cells. We sought to determine the proportion of patients with somatic FAS mutations among a group of our ALPS patients with no detectable germline mutation and to further characterize them. We found more than one-third (12 of 31) of the patients tested had somatic FAS mutations, primarily involving the intracellular domain of FAS resulting in loss of normal FAS signaling. Similar to ALPS type Ia patients, the somatic ALPS patients had increased DNT cell numbers and elevated levels of serum vitamin B(12), interleukin-10, and sFAS-L. These data support testing for somatic FAS mutations in DNT cells from ALPS patients with no detectable germline mutation and a similar clinical and laboratory phenotype to that of ALPS type Ia. These findings also highlight the potential role for somatic mutations in the pathogenesis of nonmalignant and/or autoimmune hematologic conditions in adults and children.

Nelson`s syndrome associated with a somatic frame shift mutation in the glucocorticoid recepter gene

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Karl, M.; Stratakis, C.A.; Chrousos, G.P.; Katz, D.A.; Ali, I.U.; Oldfield, E.H. [National Inst. of Neurological Disorders and Stroke, Bethesda, MD (United States)] [and others

1996-01-01

Nelson`s syndrome is the appearance and/or progression of ACTH-secreting pituitary macroadenomas in patients who had previously undergone bilateral adrenalectomy for Cushing`s disease. Extremely high plasma ACTH levels and aggressive neoplastic growth might be explained by the lack of appropriate glucocorticoid negative feedback due to defective glucocorticoid signal transduction. To study the glucocorticoid receptor (GR) gene in Nelson`s syndrome, DNA was extracted from pituitary adenomas and leukocytes of four patients with this condition and amplified by PCR for direct sequence analysis. In one of the tumors, a heterozygous mutation, consisting of an insertion of a thymine between complementary DNA nucleotides 1188 and 1189, was found in exon 2. This frame-shift mutation led to premature termination at amino acid residue 366 of the world-type coding sequence, excluding the expression of a functioning receptor protein from the defective allele. The mutation was not detected in the sequence of the GR gene in the patient`s leukocyte DNA, indicating a somatic origin. By lowering the receptor number in tumorous cells, this defect might have caused local resistance to negative glucocorticoid feedback similar to that caused by the presence of a null allele in a kindred with the generalized glucocorticoid resistance syndrome. P53 protein accumulation, previously reported in 60% of corticotropinomas, could not be detected in any of the four pituitary tumors examined by immunohistochemistry. We suggest that a somatic GR defect might have played a pathophysiological role in the tumorigenesis of the corticotropinoma bearing this mutation. 35 refs., 3 figs., 1 tab.

Irritable bowel symptoms and the development of common mental disorders and functional somatic syndromes identified in secondary care – a long-term, population-based study

Directory of Open Access Journals (Sweden)

Poulsen CH

2017-07-01

Full Text Available Chalotte Heinsvig Poulsen,1,2 Lene Falgaard Eplov,2 Carsten Hjorthøj,2 Marie Eliasen,1 Sine Skovbjerg,1 Thomas Meinertz Dantoft,1 Andreas Schröder,3 Torben Jørgensen1,4,5 1Research Centre for Prevention and Health, Capital Region of Denmark, Glostrup, 2Copenhagen University Hospital, Mental Health Centre Copenhagen, Hellerup, 3Research Clinic for Functional Disorders and Psychosomatics, Aarhus University Hospital, Aarhus, 4Department of Public Health, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 5The Faculty of Medicine, Aalborg University, Aalborg, Denmark Objective: Irritable bowel syndrome (IBS is associated with mental vulnerability, and half of patients report comorbid somatic and mental symptoms. We aimed to investigate the relationship between an IBS symptom continuum and the subsequent development of common mental disorders (CMDs and functional somatic syndromes (FSSs.Methods and study design: A longitudinal population-based study comprising two 5-year follow-up studies, Dan-MONICA 1 (1982–1987 and Inter99 (1999–2004, recruited from the western part of Copenhagen County. The total study population (n = 7,278 was divided into symptom groups according to the degree of IBS definition fulfillment at baseline and/or follow-up and was followed until December 2013 in Danish central registries. Cox regression was used for the analyses, adjusting for age, sex, length of education and cohort membership. In a subsequent analysis, we adjusted for mental vulnerability as a risk factor for both CMDs and FSSs, including IBS.Results: Over a 5-year period, 51% patients had no IBS symptoms, 17% patients had IBS symptoms without abdominal pain, 22% patients had IBS symptoms including abdominal pain and 10% patients fulfilled the IBS definition. IBS and IBS symptoms including abdominal pain were significantly associated with the development of CMDs and other FSSs identified in secondary care. When adjusting for mental

The relationship between salivary amylase and the physical and psychological changes elicited by continuation of autogenic training in patients with functional somatic syndrome.

Science.gov (United States)

Kiba, Tadashi; Abe, Tetsuya; Kanbara, Kenji; Kato, Fumie; Kawashima, Sadanobu; Saka, Yukie; Yamamoto, Kazumi; Mizuno, Yasuyuki; Nishiyama, Junji; Fukunaga, Mikihiko

2017-01-01

The aim of this study was to clarify the changes in biological measures during autogenic training (AT) sessions and the relationship between these biological measures and the changes in physical and psychological measures induced by continuation of AT in patients with functional somatic syndrome (FSS). We used the salivary amylase (SAMY) level, skin temperature of the finger (TEMP), subjective symptom scores, and psychological characteristics to assess these changes. We assessed 24 patients with FSS and 23 healthy controls before and after AT. We then conducted the same tests after the participants had practiced AT at home 1 and 2 months later. The baseline SAMY levels in the first session were significantly higher in the FSS group than in the control group. However, this difference was not significant in the second and third sessions. The pattern of changes in TEMP induced by AT was not different between the FSS and control groups. Tension-anxiety and somatic symptoms in patients with FSS were improved by AT. In the FSS group, the baseline SAMY levels in the first session showed a significant negative correlation with the changes in the subjective symptom score and tension-anxiety score at baseline. The practice of AT, both during the first session and after 1 month of continuation, eased the dysregulation of the autonomic nervous system that is reflected in SAMY in patients with FSS. AT also contributed to decreases in the tension-anxiety and somatic symptoms in patients with FSS. We suggest that SAMY is related to both physical and psychological effects of AT in patients with FSS.

Is psychotherapy for functional somatic syndromes harmful? A mixed methods study on negative effects.

Science.gov (United States)

Holsting, A F; Pedersen, H F; Rask, M T; Frostholm, L; Schröder, A

2017-07-01

Concern for negative effects of psychotherapy for functional somatic syndromes (FSS) has been expressed by clinicians and some patient associations, which may prevent patients from seeking treatment. Therefore, we sought to explore the occurrence and characteristics of negative effects from group-based psychotherapy as experienced by patients with severe or multiple FSS. An adapted version of the explanatory sequential mixed methods design was applied. We used data from an on-going pilot study on Acceptance and Commitment Therapy and Mindfulness-Based Stress Reduction. Negative effects were measured by Inventory for the assessment of Negative Effects of Psychotherapy (INEP). In addition, telephone interviews were conducted with randomly chosen patients and patients who reported negative effects. The latter were asked to elaborate on their INEP response. Quantitative data were analysed descriptively while interview transcripts were explored by thematic analysis. Eighty patients responded to the questionnaire (89%). Negative effects to different extent (from 'slightly agree' to 'fully agree') were reported by 25 (31%). The most frequent negative effects were dependence on the therapist (12%), feeling down after therapy (6%) and insurance problems (7%). By exploring 27 participants' experiences of negative effects 3 main themes were identified: relations in therapy, outcome and transition from therapy to everyday life. Patients with FSS reported a few specific negative effects, all with low frequency. Generally, therapy was well-received. Some patients did however express negative effects both within and outside the therapeutic context. It is important to inform patients about potential negative effects prior to psychotherapy. Copyright © 2017 Elsevier Inc. All rights reserved.

Review of somatic symptoms in post-traumatic stress disorder.

Science.gov (United States)

Gupta, Madhulika A

2013-02-01

Post-traumatic stress disorder (PTSD) is associated with both (1) 'ill-defined' or 'medically unexplained' somatic syndromes, e.g. unexplained dizziness, tinnitus and blurry vision, and syndromes that can be classified as somatoform disorders (DSM-IV-TR); and (2) a range of medical conditions, with a preponderance of cardiovascular, respiratory, musculoskeletal, neurological, and gastrointestinal disorders, diabetes, chronic pain, sleep disorders and other immune-mediated disorders in various studies. Frequently reported medical co-morbidities with PTSD across various studies include cardiovascular disease, especially hypertension, and immune-mediated disorders. PTSD is associated with limbic instability and alterations in both the hypothalamic- pituitary-adrenal and sympatho-adrenal medullary axes, which affect neuroendocrine and immune functions, have central nervous system effects resulting in pseudo-neurological symptoms and disorders of sleep-wake regulation, and result in autonomic nervous system dysregulation. Hypervigilance, a central feature of PTSD, can lead to 'local sleep' or regional arousal states, when the patient is partially asleep and partially awake, and manifests as complex motor and/or verbal behaviours in a partially conscious state. The few studies of the effects of standard PTSD treatments (medications, CBT) on PTSD-associated somatic syndromes report a reduction in the severity of ill-defined and autonomically mediated somatic symptoms, self-reported physical health problems, and some chronic pain syndromes.

Further evidence for a broader concept of somatization disorder using the somatic symptom index.

Science.gov (United States)

Hiller, W; Rief, W; Fichter, M M

1995-01-01

Somatization syndromes were defined in a sample of 102 psychosomatic inpatients according to the restrictive criteria of DSM-III-R somatization disorder and the broader diagnostic concept of the Somatic Symptom Index (SSI). Both groups showed a qualitatively similar pattern of psychopathological comorbidity and had elevated scores on measures of depression, hypochondriasis, and anxiety. A good discrimination between mild and severe forms of somatization was found by using the SSI criterion. SSI use accounted for a substantial amount of comorbidity variance, with rates of 15%-20% for depression, 16% for hypochondriasis, and 13% for anxiety. The results provide further evidence for the validity of the SSI concept, which reflects the clinical relevance of somatization in addition to the narrow definition of somatization disorder.

Irritable bowel symptoms and the development of common mental disorders and functional somatic syndromes identified in secondary care - a long-term, population-based study

DEFF Research Database (Denmark)

Poulsen, Chalotte Heinsvig; Eplov, Lene Falgaard; Hjorthøj, Carsten

2017-01-01

) and functional somatic syndromes (FSSs). Methods and study design: A longitudinal population-based study comprising two 5-year follow-up studies, Dan-MONICA 1 (1982-1987) and Inter99 (1999-2004), recruited from the western part of Copenhagen County. The total study population (n = 7,278) was divided into symptom...... for mental vulnerability as a risk factor for both CMDs and FSSs, including IBS. Results: Over a 5-year period, 51% patients had no IBS symptoms, 17% patients had IBS symptoms without abdominal pain, 22% patients had IBS symptoms including abdominal pain and 10% patients fulfilled the IBS definition. IBS...... and IBS symptoms including abdominal pain were significantly associated with the development of CMDs and other FSSs identified in secondary care. When adjusting for mental vulnerability, IBS and IBS symptoms including abdominal pain were no longer associated with CMDs, but the significant relationship...

The relations among body consciousness, somatic symptom report, and information processing speed in chronic fatigue syndrome.

NARCIS (Netherlands)

Werf, S.P. van der; Vree, B.P.W. de; Meer, J.W.M. van der; Bleijenberg, G.

2002-01-01

OBJECTIVE: The aim of this study was to assess the potential influence of body consciousness and levels of somatic symptom report upon information processing speed in patients with chronic fatigue syndrome (CFS). BACKGROUND: According to a model of a fixed information processing capacity, it was

Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male.

Science.gov (United States)

Toyoda, Hidemi; Hirayama, Jyunya; Sugimoto, Yuka; Uchida, Keiichi; Ohishi, Kohshi; Hirayama, Masahiro; Komada, Yoshihiro

2014-06-01

Recently, a new syndrome of paraganglioma, somatostatinoma, and polycythemia has been discovered (known as Pacak-Zhuang syndrome). This new syndrome, with somatic HIF2A gain-of-function mutations, has never been reported in male patients. We describe a male patient with Pacak-Zhuang syndrome who carries a newly discovered HIF2A mutation. Congenital polycythemias have diverse etiologies, including germline mutations in the oxygen-sensing pathway. These include von Hippel-Lindau (Chuvash polycythemia), prolyl hydroxylase domain-containing protein-2, and hypoxia-inducible factor-2α (HIF-2α). Somatic gain-of-function mutations in the gene encoding HIF-2α were reported in patients with paraganglioma and polycythemia and have been found exclusively in female patients. Through sequencing of the HIF2A using DNA from paraganglioma in 15-year-old male patient, we identified a novel mutation of HIF2A: a heterozygous C to A substitution at base 1589 in exon 12 of HIF2A. The mutation was not found in germline DNA from leukocytes. The C1589A mutations resulted in substitution of alanine 530 in the HIF-2α protein with glutamic acid. This mutation is undoubtedly associated with increased HIF-2α activity and increased protein half-life, because it affects the vicinity of the prolyl hydroxylase target residue, proline 531. To our knowledge, this is the first report describing Pacak-Zhuang syndrome with somatic gain-of-function mutation in HIF2A in a male patient. Congenital polycythemia of unknown origin should raise suspicion for the novel disorder Pacak-Zhuang syndrome, even in male patients. Copyright © 2014 by the American Academy of Pediatrics.

The modulation of visceral functions by somatic afferent activity.

Science.gov (United States)

Sato, A; Schmidt, R F

1987-01-01

We began by briefly reviewing the historical background of neurophysiological studies of the somato-autonomic reflexes and then discussed recent studies on somatic-visceral reflexes in combination with autonomic efferent nerve activity and effector organ responses. Most of the studies that have advanced our knowledge in this area have been carried out on anesthetized animals, thus eliminating emotional factors. We would like to emphasize again that the functions of many, or perhaps all visceral organs can be modulated by somato-sympathetic or somato-parasympathetic reflex activity induced by a appropriate somatic afferent stimulation in anesthetized animals. As mentioned previously, some autonomic nervous outflow, e.g. the adrenal sympathetic nerve activity, is involved in the control of hormonal secretion. John F. Fulton wrote in his famous textbook "Physiology of the Nervous System" (1949) that the posterior pituitary neurosecretion system (i.e. for oxytocin and vasopressin) could be considered a part of the parasympathetic nervous system. In the study of body homeostasis and environmental adaptation it would seem very important to further analyze the contribution of somatic afferent input to the autonomic nervous and hormonal regulation of visceral organ activity. Also, some immunological functions have been found to be influenced by autonomic nerves or hormones (e.g. adrenal cortical hormone and catecholamines). Finally, we must take into account, as we have briefly discussed, that visceral functions can be modulated by somatic afferent input via various degrees of integration of autonomic nerves, hormones, and immunological processes. We trust that such research will be expanded to higher species of mammals, and that ultimately this knowledge of somato-visceral reflexes obtained in the physiological laboratory will become clinically useful in influencing visceral functions.

Endogenous inhibition of somatic pain is impaired in girls with irritable bowel syndrome compared with healthy girls

Science.gov (United States)

Endogenous pain inhibition is often deficient in adults with chronic pain conditions including irritable bowel syndrome (IBS). It is unclear whether deficiencies in pain inhibition are present in young children with IBS. The present study compared endogenous pain inhibition, somatic pain threshold, ...

Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann Syndrome

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Bischoff, F.Z.; McCaskill, C.; Subramanian, S. [Baylor College of Medicine, Houston, TX (United States)] [and others

1994-09-01

Beckwith-Wiedemann Syndrome (BWS) is characterized by numerous growth abnormalities including exomphalos, macroglossia, gigantism, and hemihypertrophy or hemihyperplasia. The {open_quotes}BWS gene{close_quotes} appears to be maternally repressed and is suspected to function as a growth factor or regulator of somatic growth, since activation of this gene through a variety of mechanisms appears to result in somatic overgrowth and tumor development. Mosaic paternal isodisomy of 11p has been observed previously by others in patients with BWS by Southern blot analysis of genomic DNA. The interpretation of these results was primarily based on the intensities of the hybridization signals for the different alleles. In our study, we demonstrate somatic mosaicism directly through PCR and single cell analysis. Peripheral blood was obtained from a patient with BWS and initial genomic DNA analysis by PCR was suggestive of somatic mosaicism for paternal isodisomy of 11p. Through micromanipulation, single cells were isolated and subjected to primer extention preamplification. Locus-specific microsatellite marker analyses by PCR were performed to determine the chromosome 11 origins in the preamplified individual cells. Two populations of cells were detected, a population of cells with normal biparental inheritance and a population of cells with paternal isodisomy of 11p and biparental disomy of 11q. Using the powerful approach of single cell analysis, the detected somatic mosaicism provides evidence for a mitotic recombinational event that has resulted in loss of the maternal 11p region and gain of a second copy of paternal 11p in some cells. The direct demonstration of mosaicism may explain the variable phenotypes and hemihypertrophy often observed in BWS.

The DSM-IV nosology of chronic pain: a comparison of pain disorder and multiple somatization syndrome.

Science.gov (United States)

Hiller, W; Heuser, J; Fichter, M M

2000-01-01

This study evaluates the classification of pain from the perspective of the DSM-IV system. Of 60 in-patients with long-standing and disabling pain syndromes, 29 with pain disorder (PD) and 31 with pain as part of a multiple somatization syndrome (MSS) were compared before and after a structured cognitive-behavioral treatment. It was hypothesized that MSS patients show more psychological distress, are more severely disabled, and respond less to the treatment. Both groups were similar with respect to sociodemographic status, history of pain symptomatology and comorbidity with DSM-IV mental disorders. The results show that MSS patients had higher levels of affective and sensoric pain sensations as well as more pain-related disabilities. They were also less successful during treatment to reduce their pain-related depression and anxiety. Psychosocial functioning was improved only by PD patients, but remained almost unchanged in the MSS group. However, there were no group differences concerning general depression and hypochondriasis, dysfunctional attitudes towards body and health, and use of pain coping strategies. It is concluded that the DSM-IV distinction between 'pure' pain disorder and syndromes involving pain plus multiple somatoform symptoms cannot generally be confirmed, but further studies of validation are needed. Copyright 2000 European Federation of Chapters of the International Association for the Study of Pain.

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience

Directory of Open Access Journals (Sweden)

Dorota M. Rowczenio

2017-10-01

Full Text Available Cryopyrin-associated periodic syndrome (CAPS is caused by gain-of-function NLRP3 mutations. Recently, somatic NLRP3 mosaicism has been reported in some CAPS patients who were previously classified as “mutation-negative.” We describe here the clinical and laboratory findings in eight British adult patients who presented with symptoms typical of CAPS other than an onset in mid-late adulthood. All patients underwent comprehensive clinical and laboratory investigations, including analysis of the NLRP3 gene using Sanger and amplicon-based deep sequencing (ADS along with measurements of extracellular apoptosis-associated speck-like protein with CARD domain (ASC aggregates. The clinical phenotype in all subjects was consistent with mid-spectrum CAPS, except a median age at disease onset of 50 years. Sanger sequencing of NLRP3 was non-diagnostic but ADS detected a somatic NLRP3 mutation in each case. In one patient, DNA isolated from blood demonstrated an increase in the mutant allele from 5 to 45% over 12 years. ASC aggregates in patients’ serum measured during active disease were significantly higher than healthy controls. This series represents 8% of CAPS patients diagnosed in a single center, suggesting that acquired NLRP3 mutations may not be an uncommon cause of the syndrome and should be sought in all patients with late-onset symptoms otherwise compatible with CAPS. Steadily worsening CAPS symptoms in one patient were associated with clonal expansion of the mutant allele predominantly affecting myeloid cells. Two patients developed AA amyloidosis, which previously has only been reported in CAPS in association with life-long germline NLRP3 mutations.

Mood and Anxiety Disorders in Chronic Fatigue Syndrome, Fibromyalgia, and Irritable Bowel Syndrome : Results From the LifeLines Cohort Study

NARCIS (Netherlands)

Janssens, Karin A. M.; Zijlema, Wilma L.; Joustra, Monica L.; Rosmalen, Judith G. M.

Objective: Functional somatic syndromes (FSSs) have often been linked to psychopathology. The aim of the current study was to compare prevalence rates of psychiatric disorders among individuals with chronic fatigue syndrome (CFS), fibromyalgia (FM), and irritable bowel syndrome (IBS). Methods: This

DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q).

Science.gov (United States)

Bamforth, J S; Lin, C C

1997-12-31

DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities. Lubinsky et al. [1994: Am J Med Genet 52:272-278] pointed out similarities between this and the del(13q) syndrome. To date, all reported cases of DK phocomelia have been apparently normal chromosomally. We report on a case of DK phocomelia in which the proposita had normal lymphocyte chromosomes, but was mosaic in fibroblasts for del(13)(q12). Fibroblast chromosomes studies on other cases of DK phocomelia have not been reported: this raises the possibility that some cases of DK phocomelia may be somatic mosaics for del(13)(q12).

Youth unemployment and functional somatic symptoms in adulthood: results from the Northern Swedish cohort.

Science.gov (United States)

Brydsten, Anna; Hammarström, Anne; Strandh, Mattias; Johansson, Klara

2015-10-01

Little is known about the possible long-term health consequences of youth unemployment. Research indicates that unemployment may lead to socioeconomic downward mobility and mental health problems, but we still lack knowledge of the long-term health consequences of youth unemployment. This article examines the potential long-term association between youth unemployment and functional somatic symptoms in adulthood. The 'Northern Swedish cohort' was used with data from five data collections, from 1981 (age 16) until 2007 (age 42). Youth unemployment was measured as months in unemployment between age 16 and 21, and health outcome as functional somatic symptoms (an index of 10 items of self-reported symptoms). Linear regression was used to analyse the relationship between months in youth unemployment and functional somatic symptoms at age 21 and age 42, stratified for women and men and adjusted for potential confounders, such as time spent in education at age 21 and later unemployment between age 21 and 42. Youth unemployment was significantly related to functional somatic symptoms at age 21 for men after controlling for confounders, but not for women. Among men, the association remained for functional somatic symptoms at age 42, after controlling for confounders. Adolescence seems to be a sensitive period during which unemployment could have remaining health effects in adulthood, at least for men, though assumptions of causality are tentative and more research is needed. © The Author 2015. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved.

Behavioral Variability and Somatic Mosaicism: A Cytogenomic Hypothesis.

Science.gov (United States)

Vorsanova, Svetlana G; Zelenova, Maria A; Yurov, Yuri B; Iourov, Ivan Y

2018-04-01

Behavioral sciences are inseparably related to genetics. A variety of neurobehavioral phenotypes are suggested to result from genomic variations. However, the contribution of genetic factors to common behavioral disorders (i.e. autism, schizophrenia, intellectual disability) remains to be understood when an attempt to link behavioral variability to a specific genomic change is made. Probably, the least appreciated genetic mechanism of debilitating neurobehavioral disorders is somatic mosaicism or the occurrence of genetically diverse (neuronal) cells in an individual's brain. Somatic mosaicism is assumed to affect directly the brain being associated with specific behavioral patterns. As shown in studies of chromosome abnormalities (syndromes), genetic mosaicism is able to change dynamically the phenotype due to inconsistency of abnormal cell proportions. Here, we hypothesize that brain-specific postzygotic changes of mosaicism levels are able to modulate variability of behavioral phenotypes. More precisely, behavioral phenotype variability in individuals exhibiting somatic mosaicism might correlate with changes in the amount of genetically abnormal cells throughout the lifespan. If proven, the hypothesis can be used as a basis for therapeutic interventions through regulating levels of somatic mosaicism to increase functioning and to improve overall condition of individuals with behavioral problems.

A review of somatoform disorders in DSM-IV and somatic symptom disorders in proposed DSM-V.

Science.gov (United States)

Ghanizadeh, Ahmad; Firoozabadi, Ali

2012-12-01

Psychiatric care providers should be trained to use current changes in the somatoform disorders criteria. New diagnostic criteria for Somatic Symptom disorders in the proposed DSM-V is discussed and compared with its older counterpart in DSM-IV. A new category called Somatic Syndrome Disorders is suggested. It includes new subcategories such as "Complex Somatic Symptom Disorder" (CSSD) and "Simple Somatic Symptom Disorder" (SSSD). Some of the subcategories of DSM-IV derived disorders are included in CSSD. While there are some changes in diagnostic criteria, there are concerns and limitations about the new classification needed to be more discussed before implementation. Functional somatic disturbance, the counterpart of converion disorder in DSM-IV, can be highly dependet on the developmental level of children. However, the role of developmental level needs to be considered.

Comorbidity of functional urinary incontinence and encopresis: somatic and behavioral associations.

Science.gov (United States)

Von Gontard, Alexander; Hollmann, Elke

2004-06-01

Functional urinary incontinence and encopresis are common comorbid disorders in childhood. We analyze the specific somatic and behavioral symptoms associated with functional enuresis/urinary incontinence and encopresis when they occur together. A total of 167 consecutive children 5 to 10 year olds, with day and/or night wetting were examined prospectively with ultrasound, uroflowmetry, electroencephalography, the Child Behavior Checklist, Culture Fair Intelligence Test and ICD-10 child psychiatric diagnoses. The main findings for the comorbid group (20 patients) with wetting and soiling were a significantly higher rate of daytime incontinence and micturition problems, thickened bladder walls and pathological electroencephalography. There were higher, although not significant, rates of previous urinary tract infections, antibiotic prophylaxis, residual volume and abnormal uroflow curves in this group. Behaviorally, hyperkinetic syndromes, and emotional and conduct disorders (according to ICD-10) were more common. Of the 20 patients 65% had a Child Behavior Checklist total score (greater than 90th percentile) in the clinical range. The externalizing, internalizing, delinquent and anxious/depressed problem scales were also significantly higher. This risk group requires detailed assessment and specific treatment. In addition to the symptomatic treatment of the wetting and soiling, many of these children are in need of specific behavioral, psychotherapeutic and pharmacological treatment.

Symptom-specific associations between low cortisol responses and functional somatic symptoms : The TRAILS study

NARCIS (Netherlands)

Janssens, K.A.; Oldehinkel, A.J.; Verhulst, F.C.; Hunfeld, J.A.; Ormel, J.; Rosmalen, J.G.

Background: Functional somatic symptoms (FSS), like chronic pain and overtiredness, are often assumed to be stress-related. Altered levels of the stress hormone cortisol could explain the association between stress and somatic complaints. We hypothesized that low cortisol levels after awakening and

Parent-child Communication-centered Rehabilitative Approach for Pediatric Functional Somatic Symptoms.

Science.gov (United States)

Gerner, Maya; Barak, Sharon; Landa, Jana; Eisenstein, Etzyona

2016-01-01

Functional somatic symptoms (FSS) are a type of somatization phenomenon. Integrative rehabilitation approaches are the preferred treatment for pediatric FSS. Parental roles in the treatment process have not been established. to present 1) a parent-focused treatment (PFT) for pediatric FSS and 2) the approach's preliminary results. The sample included 50 children with physical disabilities due to FSS. All children received PFT including physical and psychological therapy. A detailed description of the program's course and guiding principles is provided. FSS extinction and age-appropriate functioning. Post-program, 84% of participants did not exhibit FSS and 94% returned to age-appropriate functioning. At one-year follow-up, only 5% of participants experienced symptom recurrence. No associations were found between pre-admission symptoms and intervention duration. PFT is beneficial in treating pediatric FSS. Therefore, intensive parental involvement in rehabilitation may be cardinal.

Parental Overprotection Predicts the Development of Functional Somatic Symptoms in Young Adolescents

OpenAIRE

Janssens, Karin A. M.; Oldehinkel, Albertine J.; Rosmalen, Judith G. M.

2009-01-01

Objective To examine whether parental overprotection contributes to die development of functional somatic symptoms (FSS) in young adolescents. In addition, we aimed to study whether this potential effect of parental overprotection is mediated by parenting distress and/or moderated by the adolescent's sex. Study design FSS were measured in 2230 adolescents (ages 10 to 12 years from the Tracking Adolescents' Individual Lives Survey) by the Somatic Complaints subscale of the Youth Self Report at...

Specifics of mental disorders of patients with metabolic syndrome

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K. I. Kleban

2017-09-01

Full Text Available In the general-somatic network there is a steady increase in the number of patients with psychosomatic disorders. Problems of providing adequate psychiatric and psychotherapeutic assistance to this category of patients are related to the motivation of patients to participate in psychological measures and the readiness of the medical system to provide comprehensive care on the basis of the biopsychosocial approach. Mental factors are involved both in the occurrence and course of a metabolic syndrome in the form of a patient's lifestyle and behavior patterns of healthy functioning, and is a consequence of somatic pathology. Mental factors are involved both in the occurrence and course of a metabolic syndrome in the form of a patient's lifestyle and behavior patterns of healthy functioning, and is a consequence of somatic pathology. So mental disorders of metabolic syndrome are manifested in the form of psychosocial maladaptation, neurotic, affective, personality, and organic disorders. Desynchronosis which is a factor of the development of a metabolic syndrome and characterizes the complex chronobiological component of the regulation of psychophysiological functions in norm and under the influence of stress, deserves special attention. Addressing the diagnosis of mental disorders associated with metabolic syndrome is precisely aimed at determining chronobiological disorders of psychosomatic integrated areas and is supposed to improve diagnostic and treatment process and to shorten the treatment of these disorders.

Negative Affectivity, Depression, and Resting Heart Rate Variability (HRV as Possible Moderators of Endogenous Pain Modulation in Functional Somatic Syndromes

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Maaike Van Den Houte

2018-03-01

Full Text Available Background: Several studies have shown that patients with functional somatic syndromes (FSS have, on average, deficient endogenous pain modulation (EPM, as well as elevated levels of negative affectivity (NA and high comorbidity with depression and reduced resting heart rate variability (HRV compared to healthy controls (HC. The goals of this study were (1 to replicate these findings and (2 to investigate the moderating role of NA, depression, and resting HRV in EPM efficiency within a patient group with fibromyalgia and/or chronic fatigue syndrome (CFS. Resting HRV was quantified as the root mean square of successive differences between inter-beat intervals (RMSSD in rest, a vagally mediated time domain measure of HRV.Methods: Seventy-eight patients with fibromyalgia and/or CFS and 33 HC completed a counter-irritation paradigm as a measure of EPM efficiency. Participants rated the painfulness of electrocutaneous stimuli (of individually calibrated intensity on the ankle before (baseline phase, during (counter-irritation phase and after (recovery phase the application of a cold pain stimulus on the forearm. A larger reduction in pain in the counter-irritation phase compared to the baseline phase reflects a more efficient EPM.Results: In contrast to our expectations, there was no difference between pain ratings in the baseline compared to counter-irritation phase for both patients and HC. Therefore, reliable conclusions on the moderating effect of NA, depression, and RMSSD could not be made. Surprisingly, patients reported more pain in the recovery compared to the counter-irritation and baseline phase, while HC did not. This latter effect was more pronounced in patients with comorbid depression, patients who rated the painfulness of the counter-irritation stimulus as high and patients who rated the painfulness of the electrocutaneous stimuli as low. We did not manage to successfully replicate the counter-irritation effect in HC or FSS patients

Novel somatic mutations in the catalytic subunit of the protein kinase A as a cause of adrenal Cushing's syndrome: a European multicentric study.

Science.gov (United States)

Di Dalmazi, Guido; Kisker, Caroline; Calebiro, Davide; Mannelli, Massimo; Canu, Letizia; Arnaldi, Giorgio; Quinkler, Marcus; Rayes, Nada; Tabarin, Antoine; Laure Jullié, Marie; Mantero, Franco; Rubin, Beatrice; Waldmann, Jens; Bartsch, Detlef K; Pasquali, Renato; Lohse, Martin; Allolio, Bruno; Fassnacht, Martin; Beuschlein, Felix; Reincke, Martin

2014-10-01

Somatic mutations in PRKACA gene, encoding the catalytic subunit of protein kinase A (PKA), have been recently found in a high proportion of sporadic adenomas associated with Cushing's syndrome. The aim was to analyze the PRKACA mutation in a large cohort of patients with adrenocortical masses. Samples from nine European centers were included (Germany, n = 4; Italy, n = 4; France, n = 1). Samples were drawn from 149 patients with nonsecreting adenomas (n = 32 + 2 peritumoral), subclinical hypercortisolism (n = 36), Cushing's syndrome (n = 64 + 2 peritumoral), androgen-producing tumors (n = 4), adrenocortical carcinomas (n = 5 + 2 peritumoral), and primary bilateral macronodular adrenal hyperplasias (n = 8). Blood samples were available from patients with nonsecreting adenomas (n = 15), subclinical hypercortisolism (n = 10), and Cushing's syndrome (n = 35). Clinical and hormonal data were collected. DNA amplification by PCR of exons 6 and 7 of the PRKACA gene and direct sequencing were performed. PRKACA heterozygous mutations were found in 22/64 samples of Cushing's syndrome patients (34%). No mutations were found in peritumoral tissue and blood samples or in other tumors examined. The c.617A>C (p.Leu206Arg) occurred in 18/22 patients. Furthermore, two novel mutations were identified: c.600_601insGTG/p.Cys200_Gly201insVal in three patients and c.639C>G+c.638_640insATTATCCTGAGG/p.Ser213Arg+p.Leu212_Lys214insIle-Ile-Leu-Arg) in one. All the mutations involved a region implicated in interaction between PKA regulatory and catalytic subunits. Patients with somatic PRKACA mutations showed higher levels of cortisol after dexamethasone test and a smaller adenoma size, compared with nonmutated subjects. These data confirm and extend previous observations that somatic PRKACA mutations are specific for adrenocortical adenomas causing Cushing's syndrome.

Sexual abuse predicts functional somatic symptoms : An adolescent population study

NARCIS (Netherlands)

Bonvanie, Irma J.; van Gils, Anne; Janssens, Karin A. M.; Rosmalen, Judith G. M.

The main aim of this study was to investigate the effect of childhood sexual abuse on medically not well explained or functional somatic symptoms (FSSs) in adolescents. We hypothesized that sexual abuse predicts higher levels of FSSs and that anxiety and depression contribute to this relationship.

Cancer treatment in childhood and testicular function: the importance of the somatic environment

Science.gov (United States)

Stukenborg, Jan-Bernd; Jahnukainen, Kirsi; Hutka, Marsida

2018-01-01

Testicular function and future fertility may be affected by cancer treatment during childhood. Whilst survival of the germ (stem) cells is critical for ensuring the potential for fertility in these patients, the somatic cell populations also play a crucial role in providing a suitable environment to support germ cell maintenance and subsequent development. Regulation of the spermatogonial germ-stem cell niche involves many signalling pathways with hormonal influence from the hypothalamo-pituitary-gonadal axis. In this review, we describe the somatic cell populations that comprise the testicular germ-stem cell niche in humans and how they may be affected by cancer treatment during childhood. We also discuss the experimental models that may be utilized to manipulate the somatic environment and report the results of studies that investigate the potential role of somatic cells in the protection of the germ cells in the testis from cancer treatment. PMID:29351905

Ehlers-Danlos syndrome in a young woman with anorexia nervosa and complex somatic symptoms.

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Lee, Michelle; Strand, Mattias

2018-03-01

The Ehler-Danlos syndromes (EDS) are a group of clinically heterogeneous connective tissue disorders characterized by joint hypermobility, hyperextensibility of the skin, and a general connective tissue fragility that can induce symptoms from multiple organ systems. We present a case of comorbid anorexia nervosa and EDS in a 23-year old woman with a multitude of somatic symptoms that were initially attributed to the eating disorder but that were likely caused by the underlying EDS. Various EDS symptoms, such as gastrointestinal complaints, smell and taste abnormalities, and altered somatosensory awareness may resemble or mask an underlying eating disorder, and vice versa. Because of the large clinical heterogeneity, correctly identifying symptoms of EDS presents a challenge for clinicians, who should be aware of this group of underdiagnosed and potentially serious syndromes. The Beighton Hypermobility Score is an easily applicable screening instrument in assessing potential EDS in patients with joint hypermobility. © 2017 Wiley Periodicals, Inc.

Hypochondriasis and somatization.

Science.gov (United States)

Kellner, R

1987-11-20

Between 60% and 80% of healthy individuals experience somatic symptoms in any one week. About 10% to 20% of a random sample of people worry intermittently about illness. A substantial proportion of patients present physicians with somatic complaints for which no organic cause can be found. Patients who are hypochondriacal do not understand the benign nature of functional somatic symptoms and interpret these as evidence of disease. Hypochondriacal concerns range from common short-lived worries to persistent and distressing fears or convictions of having a disease. Hypochondriasis can be secondary to other psychiatric disorders (eg, melancholia or panic disorder), and hypochondriacal attitudes remit when the primary disorder is successfully treated. Patients with primary hypochondriasis are also anxious or depressed, but the fear of disease, or the false belief of having a disease, persists and is the most important feature of their psychopathology. There are substantial differences among hypochondriacal patients in their personalities and psychopathologies. Psychotherapy as well as psychotropic drugs are effective in the treatment of functional somatic symptoms. There are no adequate controlled studies on the value of psychotherapy in hypochondriasis; the recommended guidelines are based on uncontrolled studies of hypochondriasis and on controlled studies of the psychotherapy in similar disorders. The prognosis of functional somatic symptoms as well as that of hypochondriasis is good in a substantial proportion of patients.

Somatic symptoms beyond those generally associated with a whiplash injury are increased in self-reported chronic whiplash. A population-based cross sectional study: the Hordaland Health Study (HUSK

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Myrtveit Solbjørg

2012-08-01

Full Text Available Abstract Background Chronic whiplash leads to considerable patient suffering and substantial societal costs. There are two competing hypothesis on the etiology of chronic whiplash. The traditional organic hypothesis considers chronic whiplash and related symptoms a result of a specific injury. In opposition is the hypothesis that chronic whiplash is a functional somatic syndrome, and related symptoms a result of society-induced expectations and amplification of symptoms. According to both hypotheses, patients reporting chronic whiplash are expected to have more neck pain, headache and symptoms of anxiety and depression than the general population. Increased prevalence of somatic symptoms beyond those directly related to a whiplash neck injury is less investigated. The aim of this study was to test an implication derived from the functional hypothesis: Is the prevalence of somatic symptoms as seen in somatization disorder, beyond symptoms related to a whiplash neck injury, increased in individuals self-reporting chronic whiplash? We further aimed to explore recall bias by comparing the symptom profile displayed by individuals self-reporting chronic whiplash to that among those self-reporting a non-functional injury: fractures of the hand or wrist. We explored symptom load, etiologic origin could not be investigated in this study. Methods Data from the Norwegian population-based “Hordaland Health Study” (HUSK, 1997–99; N = 13,986 was employed. Chronic whiplash was self-reported by 403 individuals and fractures by 1,746. Somatization tendency was measured using a list of 17 somatic symptoms arising from different body parts and organ systems, derived from the research criteria for somatization disorder (ICD-10, F45. Results Chronic whiplash was associated with an increased level of all 17 somatic symptoms investigated (p Conclusions The increased prevalence of somatic symptoms beyond symptoms expected according to the organic injury model

[Somatization disorders of the urogenital tract].

Science.gov (United States)

Günthert, E A

2002-11-01

Diffuse symptoms in the urogenital region can frequently be explained by somatization disorders. Since they cannot be proven either by laboratory tests or with common technical diagnostic methods, somatization disorders should always be taken into consideration. Somatization disorders are to be considered functional disorders. Since somatization disorders due to muscular tension prevail in the urogenital region, the functional disturbance can be explained by the muscular tension. Subsequently, muscular tension causes the pathophysiological development of symptoms. As a rule they appear as myofascial pain or disorder. Muscular tension can have a psychic origin. The absence of urological findings is typical. Males and females between the ages of 16 and 75 can be affected by somatization disorders in the urogenital region. Somatization disorders due to muscular tension belong to the large group of symptoms due to tension. Diagnostic and therapeutic procedures as well as the pathophysiology of somatization disorders due to muscular tension are illustrated by two detailed case-reports.

[The "dental amalgam syndrome" - an environmental somatization Syndrome? A comparison between chronic carbon monoxide intoxication and illness related to dental amalgam].

Science.gov (United States)

Leonhardt, T

2001-01-01

In 1940, during World War II, restrictions in import of petroleum products to Sweden necessitated the use of producer gas in motor traffic. In the following years, the incidence of acute carbon monoxide intoxications raised steeply. However, many patients with minor but longstanding exposition to producer gas exhibited a neurastenic syndrome (fatigue, headaches and vertigo) thought to be specific. In Stockholm, an epidemic of this syndrome can afterwards be traced to the personal conviction of an internist who also had an important influence on various authorities, leading to a forceful campaign to the public about the dangers of using producer gas. After some years, the frequency and even the existence of a chronic carbon monoxide intoxication was called in question and at the end of the war that diagnosis lost its actuality. In Sweden, oral galvanism attributed to dental amalgam was discussed in mass media in the 1970s, not least by evidence given by some well-known personalities. In the 1980s, the frequency of illness attributed to dental amalgam increased to an important epidemic. The question of the dangers of mercury released from amalgam fillings is still an important issue of debate among dentists and physicians, although the majority remains sceptical. Also medical authorities have found little evidence of the importance of dental amalgam toxicity. A patients organisation, Tandvårdsskadeförbundet, seems to have played a significant part in the acceptance of the syndrome among laymen. Thus, various psychosocial factors seem to have played a role in both syndromes which could thus be conceived as environmental somatization syndromes.

Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.

Science.gov (United States)

Guenat, David; Quentin, Samuel; Rizzari, Carmelo; Lundin, Catarina; Coliva, Tiziana; Edery, Patrick; Fryssira, Helen; Bermont, Laurent; Ferrand, Christophe; Soulier, Jean; Borg, Christophe; Rohrlich, Pierre-Simon

2014-11-07

Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it harbors a number of genes involved in DNA repair. The high proportion of pediatric NHL reported in WBS is intriguing. Therefore, the role of haploinsufficiency of genes located at 7q11.23 in lymphomagenesis deserves to be investigated.

Parental Overprotection Predicts the Development of Functional Somatic Symptoms in Young Adolescents

NARCIS (Netherlands)

Janssens, Karin A. M.; Oldehinkel, Albertine J.; Rosmalen, Judith G. M.

Objective To examine whether parental overprotection contributes to die development of functional somatic symptoms (FSS) in young adolescents. In addition, we aimed to study whether this potential effect of parental overprotection is mediated by parenting distress and/or moderated by the

Expression and Function of Cell Wall-Bound Cationic Peroxidase in Asparagus Somatic Embryogenesis

Science.gov (United States)

Takeda, Hiroyuki; Kotake, Toshihisa; Nakagawa, Naoki; Sakurai, Naoki; Nevins, Donald J.

2003-01-01

Cultured asparagus (Asparagus officinalis L. cv Y6) cells induced to regenerate into whole plants through somatic embryogenesis secreted a 38-kD protein into cell walls. The full-length cDNA sequence of this protein (Asparagus officinalis peroxidase 1 [AoPOX1]) determined by reverse transcriptase-polymerase chain reaction showed similarity with plant peroxidases. AoPOX1 transcripts were particularly abundant during early somatic embryogenesis. To evaluate the in vivo function of AoPOX1 protein, purified recombinant AoPOX1 protein was reacted with a series of phenolic substrates. The AoPOX1 protein was effective in the metabolism of feruloyl (o-methoxyphenol)-substituted substrates, including coniferyl alcohol. The reaction product of coniferyl alcohol was fractionated and subjected to gas chromatography-mass spectrometry analysis and 1H-nuclear magnetic resonance analysis, indicating that the oxidation product of coniferyl alcohol in the presence of AoPOX1 was dehydrodiconiferyl alcohol. The concentration of dehydrodiconiferyl alcohol in the cultured medium of the somatic embryos was in the range of 10−8 m. Functions of the AoPOX1 protein in the cell differentiation are discussed. PMID:12692335

Family disruption increases functional somatic symptoms in late adolescence : the TRAILS study

NARCIS (Netherlands)

van Gils, Anne; Janssens, Karin A. M.; Rosmalen, Judith G. M.

2014-01-01

OBJECTIVE: Functional somatic symptoms (FSSs) are physical symptoms that cannot be (fully) explained by organic pathology. FSSs are very common among children and adolescents, yet their etiology is largely unknown. We hypothesize that (a) the experience of family disruption due to parental divorce

Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.

Science.gov (United States)

Batista, Rafael Loch; Rodrigues, Andresa De Santi; Machado, Aline Zamboni; Nishi, Mirian Yumie; Cunha, Flávia Siqueira; Silva, Rosana Barbosa; Costa, Elaine M F; Mendonca, Berenice B; Domenice, Sorahia

2018-01-26

Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46,XY disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in the androgen receptor (AR) gene. AIS patients present a broad phenotypic spectrum and individuals with a partial phenotype present with different degrees of undervirilized external genitalia. There are more than 500 different AR gene allelic variants reported to be linked to AIS, but the presence of somatic mosaicisms has been rarely identified. In the presence of a wild-type AR gene, a significant degree of spontaneous virilization at puberty can be observed, and it could influence the gender assignment, genetic counseling and the clinical and psychological management of these patients and the psychosexual outcomes of these patients are not known. In this study, we report two patients with AR allelic variants in heterozygous (c.382G>T and c.1769-1G>C) causing a partial AIS (PAIS) phenotype. The first patient was raised as female and she had undergone a gonadectomy at puberty. In both patients there was congruency between gender of rearing and gender identity and gender role. Somatic mosaicism is rare in AIS and nonsense AR variant allelic can cause partial AIS phenotype in this situation. Despite the risk of virilization and prenatal androgen exposure, the gender identity and gender role was concordant with sex of rearing in both cases. A better testosterone response can be expected in male individuals and this should be considered in the clinical management.

THE PREVALENCE AND CLINICAL CHARACTERISTICS OF PRIMARY HEADACHE IN IRRITABLE BOWEL SYNDROME: a subgroup of the functional somatic syndromes

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Rosa LS SOARES

2013-12-01

Full Text Available Context The irritable bowel syndrome and primary headache are two chronic diseases characterized by symptoms of recurring pain and affect approximately 10%-20% of the general population. Objectives To study the prevalence of primary headache in volunteers with irritable bowel syndrome in a Brazilian urban community. Methods It was evaluated the prevalence of primary headache associated with irritable bowel syndrome in adult volunteers 330 no patients.The protocol included the Rome III criteria, international classification of Headaches, later divided into four groups: I- Irritable bowel syndrome (n = 52, II- Primary headache (n = 45, III-Irritable bowel syndrome (n = 26 and headache, and IV- Controls (207. Results We not found significant difference in the average age of the four groups and the diagnosis of irritable bowel syndrome, primary headache and their association was more frequent in females. The frequent use of analgesics was greater in groups II and III. Conclusion Our results suggest that irritable bowel syndrome and primary headache are also common in third world countries. The frequency in use of analgesics in association between the two entities was relevant. The identification of irritable bowel syndrome patients with different clinical sub-types could improve the therapeutics options and the prevention strategies.

Inspecting Targeted Deep Sequencing of Whole Genome Amplified DNA Versus Fresh DNA for Somatic Mutation Detection: A Genetic Study in Myelodysplastic Syndrome Patients.

Science.gov (United States)

Palomo, Laura; Fuster-Tormo, Francisco; Alvira, Daniel; Ademà, Vera; Armengol, María Pilar; Gómez-Marzo, Paula; de Haro, Nuri; Mallo, Mar; Xicoy, Blanca; Zamora, Lurdes; Solé, Francesc

2017-08-01

Whole genome amplification (WGA) has become an invaluable method for preserving limited samples of precious stock material and has been used during the past years as an alternative tool to increase the amount of DNA before library preparation for next-generation sequencing. Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell disorders characterized by presenting somatic mutations in several myeloid-related genes. In this work, targeted deep sequencing has been performed on four paired fresh DNA and WGA DNA samples from bone marrow of MDS patients, to assess the feasibility of using WGA DNA for detecting somatic mutations. The results of this study highlighted that, in general, the sequencing and alignment statistics of fresh DNA and WGA DNA samples were similar. However, after variant calling and when considering variants detected at all frequencies, there was a high level of discordance between fresh DNA and WGA DNA (overall, a higher number of variants was detected in WGA DNA). After proper filtering, a total of three somatic mutations were detected in the cohort. All somatic mutations detected in fresh DNA were also identified in WGA DNA and validated by whole exome sequencing.

Somatic symptoms beyond those generally associated with a whiplash injury are increased in self-reported chronic whiplash. A population-based cross sectional study: the Hordaland Health Study (HUSK)

Science.gov (United States)

2012-01-01

Background Chronic whiplash leads to considerable patient suffering and substantial societal costs. There are two competing hypothesis on the etiology of chronic whiplash. The traditional organic hypothesis considers chronic whiplash and related symptoms a result of a specific injury. In opposition is the hypothesis that chronic whiplash is a functional somatic syndrome, and related symptoms a result of society-induced expectations and amplification of symptoms. According to both hypotheses, patients reporting chronic whiplash are expected to have more neck pain, headache and symptoms of anxiety and depression than the general population. Increased prevalence of somatic symptoms beyond those directly related to a whiplash neck injury is less investigated. The aim of this study was to test an implication derived from the functional hypothesis: Is the prevalence of somatic symptoms as seen in somatization disorder, beyond symptoms related to a whiplash neck injury, increased in individuals self-reporting chronic whiplash? We further aimed to explore recall bias by comparing the symptom profile displayed by individuals self-reporting chronic whiplash to that among those self-reporting a non-functional injury: fractures of the hand or wrist. We explored symptom load, etiologic origin could not be investigated in this study. Methods Data from the Norwegian population-based “Hordaland Health Study” (HUSK, 1997–99); N = 13,986 was employed. Chronic whiplash was self-reported by 403 individuals and fractures by 1,746. Somatization tendency was measured using a list of 17 somatic symptoms arising from different body parts and organ systems, derived from the research criteria for somatization disorder (ICD-10, F45). Results Chronic whiplash was associated with an increased level of all 17 somatic symptoms investigated (pwhiplash was more commonly reported than whiplash-injury a long time ago, and the association of interest weakly increased with time since whiplash

Dimensions of somatization and hypochondriasis.

Science.gov (United States)

Ford, C V

1995-05-01

A significantly large group of patients who communicate their psychosocial distress in the form of physical symptoms are called somatizers. They tend to overuse medical services. The syndromes with which they present have indistinct boundaries, and there tends to be some fluidity of their symptomatic presentations. Underlying psychiatric disorders such as mood disorders, anxiety disorders (including obsessive compulsive disorder), and personality disorders are frequently present.

Somatic Symptom Disorder in Semantic Dementia: The Role of Alexisomia.

Science.gov (United States)

Gan, Joanna J; Lin, Andrew; Samimi, Mersal S; Mendez, Mario F

Semantic dementia (SD) is a neurodegenerative disorder characterized by loss of semantic knowledge. SD may be associated with somatic symptom disorder due to excessive preoccupation with unidentified somatic sensations. To evaluate the frequency of somatic symptom disorder among patients with SD in comparison to comparably demented patients with Alzheimer׳s disease. A retrospective cohort study was conducted using clinical data from a referral-based behavioral neurology program. Fifty-three patients with SD meeting criteria for imaging-supported semantic variant primary progressive aphasia (another term for SD) were compared with 125 patients with clinically probable Alzheimer disease. Logistic regression controlled for sex, age, disease duration, education, overall cognitive impairment, and depression. The prevalence of somatic symptom disorder was significantly higher among patients with SD (41.5%) compared to patients with Alzheimer disease (11.2%) (odds ratio = 6:1; p Cotard syndrome or the delusion that unidentified somatic symptoms signify death or deterioration. SD, a disorder of semantic knowledge, is associated with somatic symptom disorder from impaired identification of somatic sensations. Their inability to read and name somatic sensations, or "alexisomia," results in disproportionate and persistent concern about somatic sensations with consequent significant disability. Copyright © 2016 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

DNMT1 maintains progenitor function in self-renewing somatic tissue.

Science.gov (United States)

Sen, George L; Reuter, Jason A; Webster, Daniel E; Zhu, Lilly; Khavari, Paul A

2010-01-28

Progenitor cells maintain self-renewing tissues throughout life by sustaining their capacity for proliferation while suppressing cell cycle exit and terminal differentiation. DNA methylation provides a potential epigenetic mechanism for the cellular memory needed to preserve the somatic progenitor state through repeated cell divisions. DNA methyltransferase 1 (DNMT1) maintains DNA methylation patterns after cellular replication. Although dispensable for embryonic stem cell maintenance, the role for DNMT1 in maintaining the progenitor state in constantly replenished somatic tissues, such as mammalian epidermis, is unclear. Here we show that DNMT1 is essential for epidermal progenitor cell function. DNMT1 protein was found enriched in undifferentiated cells, where it was required to retain proliferative stamina and suppress differentiation. In tissue, DNMT1 depletion led to exit from the progenitor cell compartment, premature differentiation and eventual tissue loss. Genome-wide analysis showed that a significant portion of epidermal differentiation gene promoters were methylated in self-renewing conditions but were subsequently demethylated during differentiation. Furthermore, UHRF1 (refs 9, 10), a component of the DNA methylation machinery that targets DNMT1 to hemi-methylated DNA, is also necessary to suppress premature differentiation and sustain proliferation. In contrast, Gadd45A and B, which promote active DNA demethylation, are required for full epidermal differentiation gene induction. These data demonstrate that proteins involved in the dynamic regulation of DNA methylation patterns are required for progenitor maintenance and self-renewal in mammalian somatic tissue.

Ultraviolet irradiation disrupts somatic pili structure and function

Energy Technology Data Exchange (ETDEWEB)

Silverblatt, F.J.

1979-09-01

Three piliated bacterial species were exposed to ultraviolet light and the effect of increasing duration of irradiation on the integrity of the somatic pili was quantitated by negative-stain electron microscopy. Heavily piliated Proteus mirabilis became devoid of pili after 20 min of irradiation, but Escherichia coli and Neisseria gonorrhoeae required 40 min for complete depiliation. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis demonstrated that new, small molecular weight fragments appeared after irradiation of purified E. coli pili, suggesting that cleavage of the peptide chain rather than dissociation of pilin monomers accounted for the loss of pili structure. These observations indicate that the ultrastructural integrity and function of pili can be disrupted by ultraviolet light.

Infant behaviors are predictive of functional somatic symptoms at ages 5-7 years

DEFF Research Database (Denmark)

Rask, Charlotte Ulrikka; Ørnbøl, Eva; Olsen, Else Marie

2013-01-01

OBJECTIVE: To investigate infancy predictors of impairing functional somatic symptoms (FSS) at child ages 5-7 years with a focus on problems with feeding, sleep, and tactile reactivity. STUDY DESIGN: This study is part of a longitudinal birth cohort study, Copenhagen Child Cohort CCC2000. Child h...

Somatic chronic diseases and 6-year change in cognitive functioning among older persons

NARCIS (Netherlands)

Comijs, H.; Kriegsman, D.M.W.; Dik, M.G.; Deeg, D.J.H.; Jonker, C.; Stalman, W.A.B.

2009-01-01

The influence of seven highly prevalent somatic chronic diseases on changes in cognitive functioning is investigated in older persons in a prospective design covering a 6-year follow-up period. The data were collected as part of the Longitudinal Aging Study Amsterdam (LASA). The associations between

Central sensitivity syndromes: a new paradigm and group nosology for fibromyalgia and overlapping conditions, and the related issue of disease versus illness.

Science.gov (United States)

Yunus, Muhammad B

2008-06-01

To discuss the current terminologies used for fibromyalgia syndrome (FMS) and related overlapping conditions, to examine if central sensitivity syndromes (CSS) is the appropriate nosology for these disorders, and to explore the issue of disease versus illness. A literature search was performed through PubMed, Web of Science, and ScienceDirect using a number of keywords, eg, functional somatic syndromes, somatoform disorders, medically unexplained symptoms, organic and nonorganic, and diseases and illness. Relevant articles were then reviewed and representative ones cited. Terminologies currently used for CSS conditions predominantly represent a psychosocial construct and are inappropriate. On the other hand, CSS seems to be the logical nosology based on a biopsychosocial model. Such terms as "medically unexplained symptoms," "somatization," "somatization disorder," and "functional somatic syndromes" in the context of CSS should be abandoned. Given current scientific knowledge, the concept of disease-illness dualism has no rational basis and impedes proper patient-physician communication, resulting in poor patient care. The concept of CSS is likely to promote research, education, and proper patient management. CSS seems to be a useful paradigm and an appropriate terminology for FMS and related conditions. The disease-illness, as well as organic/non-organic dichotomy, should be rejected.

TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.

Science.gov (United States)

Gray, Phillip N; Tsai, Pei; Chen, Daniel; Wu, Sitao; Hoo, Jayne; Mu, Wenbo; Li, Bing; Vuong, Huy; Lu, Hsiao-Mei; Batth, Navanjot; Willett, Sara; Uyeda, Lisa; Shah, Swati; Gau, Chia-Ling; Umali, Monalyn; Espenschied, Carin; Janicek, Mike; Brown, Sandra; Margileth, David; Dobrea, Lavinia; Wagman, Lawrence; Rana, Huma; Hall, Michael J; Ross, Theodora; Terdiman, Jonathan; Cullinane, Carey; Ries, Savita; Totten, Ellen; Elliott, Aaron M

2018-04-17

The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting precious tumor specimens. Here we describe the analytical validation of a custom probe-based NGS tumor panel, TumorNext-Lynch-MMR, which generates a comprehensive genetic profile of both germline and somatic mutations that can accelerate and streamline the time to diagnosis and preserve specimen. TumorNext-Lynch-MMR can detect single nucleotide variants, small insertions and deletions in 39 genes that are frequently mutated in Lynch syndrome and colorectal cancer. Moreover, the panel provides microsatellite instability status and detects loss of heterozygosity in the five Lynch genes; MSH2 , MSH6 , MLH1 , PMS2 and EPCAM . Clinical cases are described that highlight the assays ability to differentiate between somatic and germline mutations, precisely classify variants and resolve discordant cases.

No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia

DEFF Research Database (Denmark)

Raitila, A; Georgitsi, M; Karhu, A

2007-01-01

. Here, we have analyzed 32 pituitary adenomas and 79 other tumors of the endocrine system for somatic AIP mutations by direct sequencing. No somatic mutations were identified. However, two out of nine patients with prolactin-producing adenoma were shown to harbor a Finnish founder mutation (Q14X...... as non-secreting pituitary adenomas have been reported, most mutation-positive patients have had growth hormone-producing adenomas diagnosed at relatively young age. Pituitary adenomas are also component tumors of some familial endocrine neoplasia syndromes such as multiple endocrine neoplasia type 1...... (MEN1) and Carney complex (CNC). Genes underlying MEN1 and CNC are rarely mutated in sporadic pituitary adenomas, but more often in other lesions contributing to these two syndromes. Thus far, the occurrence of somatic AIP mutations has not been studied in endocrine tumors other than pituitary adenomas...

Genetic epidemiological studies of the functional somatic syndromes : chronic widespread pain and chronic fatigue

OpenAIRE

Kato, Kenji

2007-01-01

Fibromyalgia and chronic fatigue syndrome are two symptom-defined conditions with many physical symptoms in common, such as muscle pain, fatigue, unrefreshing sleep, and impairment in memory or concentration. These two conditions often co-occur and frequently co-exist with other symptom-defined conditions (e.g., irritable bowel syndrome and recurrent headache), have a female predominance, and share psychosocial or psychiatric characteristics. It has been suggested that fibro...

A concept mapping study on perpetuating factors of functional somatic symptoms from clinicians' perspective

NARCIS (Netherlands)

Janssens, Karin A. M.; Houtveen, Jan H.; Tak, Lineke M.; Bonvanie, Irma J.; Scholtalbers, Anna; van Gils, Anne; Geenenc, Rinie; Rosmalen, Judith G. M.

2017-01-01

Objective: The aim of this concept mapping study was to identify the structure and alleged importance of perpetuating factors of functional somatic symptoms (FSS) from the perspective of professionals. Further, we examined to which extent these factors have been addressed in scientific literature.

Hypochondriasis and somatization related to personality and attitudes toward self.

Science.gov (United States)

Hollifield, M; Tuttle, L; Paine, S; Kellner, R

1999-01-01

Better definition of the boundary between hypochondriasis and somatization was determined by measuring attitudes to self and personality dimensions associated with these syndromes. In this study, the primary care patients with hypochondriacal responses (HR) on the Illness Attitudes Scales or high somatic concern (HSC) on the Symptom Questionnaire had more negative attitudes to self and more psychological distress than the matched group of primary care control subjects. The HR subjects were different from the non-HR subjects on two of five personality domains on the NEO Personality Inventory (NEO)-Five-Factor Inventory, and the HSC subjects were different from the non-HSC subjects on four of five NEO domains. Analysis of variance demonstrated that somatization explained most of the variance in attitudes, personality, and psychological distress, but hypochondriasis uniquely contributed only to thanatophobia. The authors discuss the boundary between hypochondriasis and somatization and offer a descriptive model of this relationship.

Mind-Body Interactions in Anxiety and Somatic Symptoms.

Science.gov (United States)

Mallorquí-Bagué, Núria; Bulbena, Antonio; Pailhez, Guillem; Garfinkel, Sarah N; Critchley, Hugo D

2016-01-01

Anxiety and somatic symptoms have a high prevalence in the general population. A mechanistic understanding of how different factors contribute to the development and maintenance of these symptoms, which are highly associated with anxiety disorders, is crucial to optimize treatments. In this article, we review recent literature on this topic and present a redefined model of mind-body interaction in anxiety and somatic symptoms, with an emphasis on both bottom-up and top-down processes. Consideration is given to the role played in this interaction by predisposing physiological and psychological traits (e.g., interoception, anxiety sensitivity, and trait anxiety) and to the levels at which mindfulness approaches may exert a therapeutic benefit. The proposed model of mind-body interaction in anxiety and somatic symptoms is appraised in the context of joint hypermobility syndrome, a constitutional variant associated with autonomic abnormalities and vulnerability to anxiety disorders.

Adolescents with Low Intelligence Are at Risk of Functional Somatic Symptoms : The TRAILS Study

NARCIS (Netherlands)

Kingma, Eva M.; Janssens, Karin A. M.; Venema, Manon; Ormel, Johan; de Jonge, Peter; Rosmalen, Judith G. M.

2011-01-01

Purpose: Low intelligence is a risk factor for functional somatic symptoms (FSSs) in adults, but it is unknown whether a similar association exists in adolescents. We hypothesized that low intelligence may lead to FSS, and that this association is mediated by low school performance. In addition, we

Family therapy for adolescents with functional somatic symptoms: A systemic narrative approach on a biopsychosocial foundation

DEFF Research Database (Denmark)

Dehlholm-Lambertsen, Birgitte; Hulgaard, Ditte Roth

-established collaboration with the Pediatric department, University Hospital of Southern Denmark. The treatment is based on a biopsychosocial understanding combined with family therapy with elements of systemic and narrative theories. Objective: • Presentation of the family therapy approach used in the department of Child...... and Adolescent Psychiatry, University Hospital of Southern Denmark. • Discussion of different approaches to family therapy for adolescents with functional somatic symptoms • Discussion of challenges and advantages of a systemic narrative approach to families of adolescents with functional somatic symptoms....... evidence on the effect of psychological treatment. At the department of Child and Adolescent Psychiatry, University Hospital of Southern Denmark, a team of experienced therapists has developed an approach for the treatment of adolescents with FSS. This approach includes a formalized and well...

Family therapy for children with functional somatic symptoms

DEFF Research Database (Denmark)

Hulgaard, Ditte Roth; Dehlholm-Lambertsen, Birgitte; Rask, Charlotte

Introduction: Functional somatic symptoms (FSS) can be defined as physical symptoms that cannot be fully explained by organic pathology. FSS are prevalent in children worldwide and in all medical settings, and when severe, pose a major burden on those with FSS and on society. In clinical practice...... and current research in child mental health, focus on family factors is increasing. The aim of this systematic review was to explore and describe the current family based approaches used for youngsters with FSS, and to evaluate the quality of the existing research in this area. Method: The review...... on family based CBT. Conclusions and implications: The family’s illness explanations are an important target for intervention and coordination between paediatric and CAMHS is important, when treating youngsters with FSS. Clinical implications of the findings and recommendations for future research...

Psychosomatic syndromes and anorexia nervosa

Directory of Open Access Journals (Sweden)

Abbate-Daga Giovanni

2013-01-01

Full Text Available Abstract Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN, few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63% and alexithymia (54.6% resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%, somatization group (26%, and severe psychosomatic group (25%. The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments.

Association of Neglect-Like Symptoms with Anxiety, Somatization, and Depersonalization in Complex Regional Pain Syndrome.

Science.gov (United States)

Michal, Matthias; Adler, Julia; Reiner, Iris; Wermke, Andreas; Ackermann, Tatiana; Schlereth, Tanja; Birklein, Frank

2017-04-01

Many patients with complex regional pain syndrome (CRPS) report some foreignness of the affected limb, which is referred to as "neglect-like symptoms" (NLS). Despite similarities of the NLS reports to symptoms of body image disturbances in mental disorders, no study has been conducted to examine such associations. We investigated 50 patients with CRPS and 45 pain control patients (N = 27, chronic limb pain; N = 18, migraine headache). NLS, anxiety, depression, depersonalization, and somatization were assessed using validated questionnaires. Seventy-two percent of the CRPS patients reported at least one NLS vs 29.6% and 33.3% in the two patient control groups. In limb pain controls, NLS correlated with pain intensity. In CRPS patients, NLS correlated with anxiety (rho = 0.658, P  psychological studies. © 2016 American Academy of Pain Medicine. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Somatic symptom profiles in the general population: a latent class analysis in a Danish population-based health survey

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Eliasen M

2017-08-01

the symptoms. The profiles have the potential to be used in further epidemiological studies on risk factors and prognosis of somatic symptoms but should be confirmed in other population-based studies with specific focus on symptom burden. Keywords: epidemiology, somatic symptoms, subjective health complaints, multiple symptoms, functional somatic syndromes, health status

Clinical study of the relation of borderline personality disorder to Briquet's syndrome (hysteria), somatization disorder, antisocial personality disorder, and substance abuse disorders.

Science.gov (United States)

Hudziak, J J; Boffeli, T J; Kreisman, J J; Battaglia, M M; Stanger, C; Guze, S B; Kriesman, J J

1996-12-01

The criteria for borderline personality disorder seem to select patients with very high rates of Briquet's syndrome (hysteria), somatization disorder, antisocial personality disorder, and substance abuse disorders. This study was undertaken to determine whether systematic assessment of patients with borderline personality disorder would reveal characteristic features of that condition which would distinguish it from these other disorders. Eighty-seven white female patients (75 in St. Louis and 12 in Milan, Italy) who had borderline personality disorder according to both the DSM-III-R criteria and the Revised Diagnostic Interview for Borderlines were further examined with the DSM-III-R Checklist and the Perley-Guze Hysteria Checklist to determine their patterns of psychiatric comorbidity. Every patient had at least one additional DSM diagnosis. Patients in St. Louis and Milan averaged five and four additional diagnoses, respectively. Eighty-four percent of the patients in St. Louis met criteria for either somatization disorder, Briquet's syndrome, antisocial personality disorder, or substance abuse disorders. Patterns of comorbidity for panic (51%), generalized anxiety disorder (55%), and major depression (87%) in St. Louis were consistent with those in other studies. The data indicate that the boundaries for the borderline condition are not specific and identify a high percentage of patients with these other disorders. Furthermore, the comorbidity profiles closely resemble the psychiatric profiles of patients with these disorders. If the borderline syndrome is meant to include all of these disorders, its usefulness as a diagnosis is limited. Until the fundamental features of borderline personality disorder that distinguish it from the others are identified, it is recommended that clinicians carefully assess patients for these other diagnoses. Efforts should be made to change the borderline personality disorder criteria by shifting away from overlap with the

Cellular Mechanisms of Somatic Stem Cell Aging

Science.gov (United States)

Jung, Yunjoon

2014-01-01

Tissue homeostasis and regenerative capacity rely on rare populations of somatic stem cells endowed with the potential to self-renew and differentiate. During aging, many tissues show a decline in regenerative potential coupled with a loss of stem cell function. Cells including somatic stem cells have evolved a series of checks and balances to sense and repair cellular damage to maximize tissue function. However, during aging the mechanisms that protect normal cell function begin to fail. In this review, we will discuss how common cellular mechanisms that maintain tissue fidelity and organismal lifespan impact somatic stem cell function. We will highlight context-dependent changes and commonalities that define aging, by focusing on three age-sensitive stem cell compartments: blood, neural, and muscle. Understanding the interaction between extrinsic regulators and intrinsic effectors that operate within different stem cell compartments is likely to have important implications for identifying strategies to improve health span and treat age-related degenerative diseases. PMID:24439814

Family intervention for children with functional somatic symptoms

DEFF Research Database (Denmark)

Hulgaard, Ditte Roth; Dehlholm-Lambertsen, Birgitte; Rask, Charlotte Ulrikka

lidelser, Århus; Århus universitet Aim & Background: Functional somatic symptoms (FSS) can be defined as physical symptoms that cannot be fully explained by organic pathology. FSS are prevalent in children worldwide and in all medical settings, and when severe, pose a major burden on those with FSS...... and on society. In clinical practice and current research in child mental health, focus on family factors is increasing. The aim of this systematic review was to explore and describe the current family based approaches used for youngsters with FSS, and to evaluate the quality of the existing research...... quality scores on the POMRF. Many different outcome measures were employed, and the outcome measures chosen did not necessarily reflect what was targeted in the therapy. Focus on illness beliefs and shifting focus away from an organic explanation was agreed upon in all studies, with the alternative...

Perceptions of health and somatic sensations in women reporting premenstrual syndrome and premenstrual dysphoric disorder.

Science.gov (United States)

Craner, Julia; Sigmon, Sandra; Martinson, Amber; McGillicuddy, Morgan

2013-09-01

Focus on bodily sensations may be involved in the etiology of premenstrual syndrome (PMS) and premenstrual dysphoric disorder (PMDD). This study investigated the relationship between two types of somatic self-focus (i.e., health anxiety and anxiety sensitivity) and health-related quality of life (QOL) in women with provision diagnoses of PMS and PMDD. On the basis of responses to a screening measure, 731 college women were divided into three groups: PMDD, Moderate/Severe PMS, and Mild/No PMS. Measures included health-related QOL, health anxiety, anxiety sensitivity, and trait anxiety. Women with provisional diagnoses of PMDD and moderate/severe PMS reported higher levels of health anxiety and anxiety sensitivity. These relationships were not accounted for by trait anxiety. Furthermore, women in the PMDD and Moderate/Severe PMS groups reported lower health-related QOL. There is a significant health-related QOL burden for college women with PMDD and PMS. Health anxiety and anxiety sensitivity may contribute to the etiology of premenstrual disorders.

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.

Science.gov (United States)

Smyk, M; Obersztyn, E; Nowakowska, B; Bocian, E; Cheung, S W; Mazurczak, T; Stankiewicz, P

2007-04-15

Haploinsufficiency of SOX9, a master gene in chondrogenesis and testis development, leads to the semi-lethal skeletal malformation syndrome campomelic dysplasia (CD), with or without XY sex reversal. We report on two children with CD and a phenotypically normal father, a carrier of a somatic mosaic SOX9 deletion. This is the first report of a mosaic deletion of SOX9; few familial CD cases with germline and somatic mutation mosaicism have been described. Our findings confirm the utility of aCGH and indicate that for a more accurate estimate of the recurrence risk for a completely penetrant autosomal dominant disorder, parental somatic mosaicism should be considered in healthy parents. Copyright 2007 Wiley-Liss, Inc.

Delusional disorder-somatic type (or body dysmorphic disorder) and ...

African Journals Online (AJOL)

to distinguish cases of delusional disorder of somatic subtype from severe somatization .... features suggestive of a paranoid schizophrenia. Paranoid schizophrenia ... Of note is that the patient's personality and psychosocial functioning were ...

Prognostic significance of functional somatic symptoms in adolescence: a 15-year community-based follow-up study of adolescents with depression compared with healthy peers

Directory of Open Access Journals (Sweden)

Bohman Hannes

2012-07-01

Full Text Available Abstract Background There is a lack of population-based long-term longitudinal research on mental health status and functional physical/somatic symptoms. Little is known about the long-term mental health outcomes associated with somatic symptoms or the temporal relationship between depression and such symptoms. This 15-year study followed up adolescents with depression and matched controls, screened from a population-based sample, who reported different numbers of somatic symptoms. Methods The total population of 16–17-year-olds in Uppsala, Sweden, was screened for depression in 1991–1993. Adolescents who screened positive and an equal number of healthy controls took part in a semi-structured diagnostic interview. In addition, 21 different self-rated somatic symptoms were assessed. Sixty-four percent of those adolescents participated in a follow-up structured interview 15 years later. Results Somatic symptoms in adolescence predicted depression and other adult mental disorders regardless of the presence of adolescent depression. In adolescents with depression, the number of functional somatic symptoms predicted, in a dose response relationship, suicidal behavior, bipolar episodes, and psychotic episodes as well as chronic and recurrent depression. Contrary to expectations, the somatic symptoms of abdominal pain and perspiration without exertion better predicted depression than all DSM-IV depressive symptoms. Abdominal pain persisted as an independent strong predictor of depression and anxiety, even after controlling for other important confounders. Conclusions Somatic symptoms in adolescence can predict severe adult mental health disorders. The number of somatic symptoms concurrent with adolescent depression is, in a stepwise manner, linked to suicidal attempts, bipolar disorders, psychotic disorders, and recurrent and chronic depression. These findings can be useful in developing treatment guidelines for patients with somatic symptoms.

Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.

Science.gov (United States)

Jdila, Marwa Ben; Issa, Abir Ben; Khabou, Boudour; Rhouma, Bochra Ben; Kamoun, Fatma; Ammar-Keskes, Leila; Triki, Chahnez; Fakhfakh, Faiza

2017-10-01

West syndrome is a rare epileptic encephalopathy of early infancy, characterized by epileptic spasms, hypsarrhythmia, and psychomotor retardation beginning in the first year of life. The present study reports the clinical, molecular and bioinformatic investigation in the three studied West patients. The results revealed a complex genotype with more than one mutation in each patient including the known mutations c.1910C>G (P2, P3); c.2372A>C in P3 and c.2395C>G in P1 and novel variants including c.616G>A, shared by the three patients P1, P2 and P3; c.1403G>C shared by P2 and P3 and c.2288A>G in patient P1. All the mutations were at somatic mosaic state and were de novo in the patients except ones (c.2372A>C). To our knowledge; the somatic mosaic state is described for the first time in patients with West syndrome. Five identified mutations were located in the C-terminal domain of the protein, while the novel mutation (c.616G>A) was in the catalytic domain. Bioinformatic tools predicted that this latter is the most pathogenic substitution affecting 3D protein structure and the secondary mRNA structure. Complex genotype composed of different combinations of mutations in each patient seems to be related to the phenotype variability. Copyright © 2017. Published by Elsevier B.V.

Body image and self-esteem in somatizing patients.

Science.gov (United States)

Sertoz, Ozen O; Doganavsargil, Ozge; Elbi, Hayriye

2009-08-01

The aim of the present study was to determine dissatisfaction with body appearance and bodily functions and to assess self-esteem in somatizing patients. Body image and self-esteem were investigated in 128 women; 34 of those had diagnosed somatoform disorders, 50 were breast cancer patients with total mastectomy surgery alone, and 44 were healthy subjects. Body image and self-esteem were assessed using the Body Cathexis Scale and Rosenberg Self-Esteem Scale. The two clinical groups did not differ from one another (z = -1.832, P = 0.067), but differed from healthy controls in terms of body image (somatizing patients vs healthy controls, z = -3.628, P self-esteem (z = -0.936, P = 0.349) when depressive symptoms were controlled. No statistically significant difference was observed between total mastectomy patients and healthy controls in terms of self-esteem (z = -1.727, P = 0.084). The lower levels of self-esteem in somatizing patients were largely mediated by depressive symptoms. Depressed and non-depressed somatizing patients differed significantly from healthy controls with respect to their self-esteem and body image. Somatizing patients who were dissatisfied with their bodily functions and appearance had lower levels of self-esteem and high comorbidity of depression. In clinical practice it is suggested that clinicians should take into account psychiatric comorbidity, self-esteem, and body image in somatizing patients when planning treatment approaches.

Parental overprotection predicts the development of functional somatic symptoms in young adolescents.

Science.gov (United States)

Janssens, Karin A M; Oldehinkel, Albertine J; Rosmalen, Judith G M

2009-06-01

To examine whether parental overprotection contributes to the development of functional somatic symptoms (FSS) in young adolescents. In addition, we aimed to study whether this potential effect of parental overprotection is mediated by parenting distress and/or moderated by the adolescent's sex. FSS were measured in 2230 adolescents (ages 10 to 12 years from the Tracking Adolescents' Individual Lives Survey) by the Somatic Complaints subscale of the Youth Self Report at baseline and at follow-up 2 1/2 years later. Parental overprotection as perceived by the child was assessed by means of the EMBU-C (Swedish acronym for my memories of upbringing-child version). Parents completed the Parenting Stress Index. Linear regression analyses were performed adjusted for FSS at baseline and sex. Parental overprotection was a predictor of the development of FSS in young adolescents (beta = 0.055, P overprotection was a predictor of the development of FSS in girls (beta = 0.085, P overprotection was a predictor of the development of FSS in boys (beta = 0.072, P overprotection and FSS was found. Parental overprotection may play a role in the development of FSS in young adolescents.

The visceromotor and somatic afferent nerves of the penis.

Science.gov (United States)

Diallo, Djibril; Zaitouna, Mazen; Alsaid, Bayan; Quillard, Jeanine; Ba, Nathalie; Allodji, Rodrigue Sètchéou; Benoit, Gérard; Bedretdinova, Dina; Bessede, Thomas

2015-05-01

Innervation of the penis supports erectile and sensory functions. This article aims to study the efferent autonomic (visceromotor) and afferent somatic (sensory) nervous systems of the penis and to investigate how these systems relate to vascular pathways. Penises obtained from five adult cadavers were studied via computer-assisted anatomic dissection (CAAD). The number of autonomic and somatic nerve fibers was compared using the Kruskal-Wallis test. Proximally, penile innervation was mainly somatic in the extra-albugineal sector and mainly autonomic in the intracavernosal sector. Distally, both sectors were almost exclusively supplied by somatic nerve fibers, except the intrapenile vascular anastomoses that accompanied both somatic and autonomic (nitrergic) fibers. From this point, the neural immunolabeling within perivascular nerve fibers was mixed (somatic labeling and autonomic labeling). Accessory afferent, extra-albugineal pathways supplied the outer layers of the penis. There is a major change in the functional type of innervation between the proximal and distal parts of the intracavernosal sector of the penis. In addition to the pelvis and the hilum of the penis, the intrapenile neurovascular routes are the third level where the efferent autonomic (visceromotor) and the afferent somatic (sensory) penile nerve fibers are close. Intrapenile neurovascular pathways define a proximal penile segment, which guarantees erectile rigidity, and a sensory distal segment. © 2015 International Society for Sexual Medicine.

Immune-to-brain communication in functional somatic symptoms

NARCIS (Netherlands)

Lacourt, T.E.|info:eu-repo/dai/nl/313935068

2013-01-01

When a person presents with somatic symptoms that cannot (fully) be explained by a known organic pathology, these symptoms will be labeled ‘medically unexplained’ or ‘functional’. Often, more than one symptom is present and certain constellations of symptoms give way to a diagnosis of a specific

Family studies of somatic and functional characteristics in the polish rural population

Directory of Open Access Journals (Sweden)

T Wieczorek

2010-09-01

Full Text Available In the present investigation we were trying to determine the genetic and environmental conditioning of the chosen somatic and functional traits in Polish rural population during ontogenesis. In order to find out interactions between environmental and genetic conditions of the studied traits, classical methods of quantitative features were applied: correlation coefficients corrected by assortative mating in the chosen types of heritability were evaluated on their base, heritability coefficients of analyzed features were assessed. The biggest stability of the correlation coefficients was observed for the length-parameters. We did not noticed stronger genetic control of functional features in men. Mean-strong genetic control among analyzed traits was observed in: reaction time, space orientation and static strength expressed as relative and absolute strength.

[Comorbidity in autism spectrum disorders - II. Genetic syndromes and neurological problems].

Science.gov (United States)

Noterdaeme, Michele A; Hutzelmeyer-Nickels, Anna

2010-07-01

Children with a pervasive developmental disorder show in addition to core symptoms a variety of genetic syndromes as well as neurological problems, which are relevant for the treatment and the course of the disorder. The objective of our study is to analyse the nature and the frequency of these co-morbid somatic disorders in relation to the level of intellectual functioning of the patients. The sample consists of 601 patients with a pervasive developmental disorder diagnosed at the Department of Developmental Disorders at the Heckscher-Klinikum between 1997 and 2007. In addition to genetic syndromes, we also recorded a variety of neurological disorders. 373 of the patients (62%) had at least one additional diagnosis and 121 (20%) had at least two additional diagnoses on Axis IV of the multi-axial classification scheme. Genetic syndromes were found in 6% of the patients (N = 37). Movement disorders (N = 214; 35.6%) and epilepsy (N = 98; 16.3%) were the most frequent neurological disorders. Children with mental retardation showed significantly more somatic diagnoses than children without mental retardation. Children with pervasive developmental disorders show a wide variety of co-morbid somatic problems, which are relevant for the treatment and the course of the disorder. Children with autism and mental retardation show more co-morbid conditions and are more impaired in their psychosocial adaptation than children with autism without mental retardation.

Brain Fag Syndrome – a myth or a reality | Ola | African Journal of ...

African Journals Online (AJOL)

The Brain Fag Syndrome (BFS) is defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) as a culture bound syndrome. BFS is a tetrad of somatic complaints; cognitive impairments; sleep related complaints; and other somatic impairments. Prince first described this psychiatric illness associated with ...

Executive functions in persons with metabolic syndrome

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Subotić Tatjana

2016-01-01

Full Text Available Modern man lyfestyle contributes to the increasing incidence of metabolic syndrome in the developed world. Prevalence of the metabolic syndrome in adults ranges from 20 to 25%, and it tends to increase. Each year, 3.2 million people around the world die from complications associated with this syndrome. Treatment involves cooperation of medical doctors of various specialties, but the decisive factor is patient motivation, given that the treatment requires significant lifestyle changes. Our hypothesis is that metabolic syndrome patients have reduced ability to plan, convert plan into action and effectively implement planned activities, showing signs of dysexecutive syndrome. The term executive functions comes from the English word 'executive', which also means the controlling, in neuropsychology reserved for high-level abilities that influence more basic abilities such as attention, perception, memory, thinking and speaking. The main objective of this study was to determine characteristics of executive functioning in patients with metabolic syndrome. The sample consisted of 61 subjects of both sexes, aged 20 to 60 years, divided into two groups - those with a diagnosis of metabolic syndrome and those without this diagnosis. The results suggest that people with metabolic syndrome showed significantly poorer performance in almost all indicators of executive functions, represented by Wisconsin Card Sorting Test (Wisconsin Card Sorting Test variables.

Somatic Expression of Psychological Problems (Somatization: Examination with Structural Equation Model

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Tugba Seda Çolak

2014-09-01

Full Text Available The main purpose of the research is to define which psychological symptoms (somatization, depression, obsessive ‐ compulsive, hostility, interpersonal sensitivity, anxiety, phobic anxiety, paranoid ideation and psychoticism cause somatic reactions at most. Total effect of these psychological symptoms on somatic symptoms had been investigated. Study was carried out with structural equation model to research the relation between the psychological symptoms and somatization. The main material of the research is formed by the data obtained from 492 people. SCL‐90‐R scale was used in order to obtain the data. As a result of the structural equation analysis, it has been found that 1Psychoticism, phobic anxiety, and paranoid ideation do not predict somatic symptoms.2There is a negative relation between interpersonal sensitivity level mand somatic reactions.3Anxiety symptoms had been found as causative to occur the highest level of somatic reactions.

Somatic surveillance: corporeal control through information networks

OpenAIRE

Monahan, Torin; Wall, Tyler

2007-01-01

Somatic surveillance is the increasingly invasive technological monitoring of and intervention into body functions. Within this type of surveillance regime, bodies are recast as nodes on vast information networks, enabling corporeal control through remote network commands, automated responses, or self-management practices. In this paper, we investigate three developments in somatic surveillance: nanotechnology systems for soldiers on the battlefield, commercial body-monitoring systems for hea...

Characterizing somatization, hypochondriasis, and hysteria in the borderline personality disorder.

Science.gov (United States)

Snyder, S; Pitts, W M

1986-03-01

Somatization, hypochondriasis, and hysteria have often been considered as associated features of the borderline personality disorder. This study was designed to characterize these three syndromes in the borderline patient. Inpatients with DSM-III borderline personality disorder were compared with controls with dysthymic disorder. Scales and items from standardized rating instruments which measured the three syndromes were scored and compared between groups. Although the hysteria-obvious and hypochondriasis scales of the MMPI and the Hamilton Depression Scale item measuring hypochondriasis were elevated in the borderline group, there were no significant differences between groups. Scores of dysthymic patients significantly exceeded those of borderline patients on four of five MMPI codetypes measuring the three syndromes. Findings are discussed in light of previous psychodynamic, empirical, and research literature.

Predicting persistence of functional abdominal pain from childhood into young adulthood.

Science.gov (United States)

Horst, Sara; Shelby, Grace; Anderson, Julia; Acra, Sari; Polk, D Brent; Saville, Benjamin R; Garber, Judy; Walker, Lynn S

2014-12-01

Pediatric functional abdominal pain has been linked to functional gastrointestinal disorders (FGIDs) in adulthood, but little is known about patient characteristics in childhood that increase the risk for FGID in young adulthood. We investigated the contribution of gastrointestinal symptoms, extraintestinal somatic symptoms, and depressive symptoms in pediatric patients with functional abdominal pain and whether these predicted FGIDs later in life. In a longitudinal study, consecutive new pediatric patients, diagnosed with functional abdominal pain in a subspecialty clinic, completed a comprehensive baseline evaluation of the severity of their physical and emotional symptoms. They were contacted 5 to 15 years later and evaluated, based on Rome III symptom criteria, for abdominal pain-related FGIDs, including irritable bowel syndrome, functional dyspepsia, functional abdominal pain syndrome, and abdominal migraine. Controlling for age, sex, baseline severity of abdominal pain, and time to follow-up evaluation, multivariable logistic regression was used to evaluate the association of baseline gastrointestinal, extraintestinal somatic, and depressive symptoms in childhood with FGID in adolescence and young adulthood. Of 392 patients interviewed an average of 9.2 years after their initial evaluation, 41% (n = 162) met symptom criteria for FGID; most met the criteria for irritable bowel syndrome. Extraintestinal somatic and depressive symptoms at the initial pediatric evaluation were significant predictors of FGID later in life, after controlling for initial levels of GI symptoms. Age, sex, and abdominal pain severity at initial presentation were not significant predictors of FGID later in life. In pediatric patients with functional abdominal pain, assessment of extraintestinal and depressive symptoms may be useful in identifying those at risk for FGID in adolescence and young adulthood. Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.

Central crosstalk for somatic tinnitus: abnormal vergence eye movements.

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Qing Yang

Full Text Available BACKGROUND: Frequent oulomotricity problems with orthoptic testing were reported in patients with tinnitus. This study examines with objective recordings vergence eye movements in patients with somatic tinnitus patients with ability to modify their subjective tinnitus percept by various movements, such as jaw, neck, eye movements or skin pressure. METHODS: Vergence eye movements were recorded with the Eyelink II video system in 15 (23-63 years control adults and 19 (36-62 years subjects with somatic tinnitus. FINDINGS: 1 Accuracy of divergence but not of convergence was lower in subjects with somatic tinnitus than in control subjects. 2 Vergence duration was longer and peak velocity was lower in subjects with somatic tinnitus than in control subjects. 3 The number of embedded saccades and the amplitude of saccades coinciding with the peak velocity of vergence were higher for tinnitus subjects. Yet, saccades did not increase peak velocity of vergence for tinnitus subjects, but they did so for controls. 4 In contrast, there was no significant difference of vergence latency between these two groups. INTERPRETATION: The results suggest dysfunction of vergence areas involving cortical-brainstem-cerebellar circuits. We hypothesize that central auditory dysfunction related to tinnitus percept could trigger mild cerebellar-brainstem dysfunction or that tinnitus and vergence dysfunction could both be manifestations of mild cortical-brainstem-cerebellar syndrome reflecting abnormal cross-modality interactions between vergence eye movements and auditory signals.

Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer

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Carethers, John M; Stoffel, Elena M

2015-01-01

Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (biallelic somatic MMR mutations), constitutional MMR deficiency syndrome (biallelic germline MMR mutations), and sporadic MSI CRC (somatic biallelic methylation of MLH1). HNPCC conditions with intact DNA MMR associated with familial CRC include polymerase proofreading associated polyposis and familial colorectal cancer type X. Although next generation sequencing technologies have elucidated the genetic cause for some HNPCC conditions, others remain genetically undefined. Differentiating between Lynch syndrome and the other HNPCC disorders has profound implications for cancer risk assessment and surveillance of affected patients and their at-risk relatives. Clinical suspicion coupled with molecular tumor analysis and testing for germline mutations can help differentiate the clinical mimicry within HNPCC and facilitate diagnosis and management. PMID:26309352

Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.

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Carethers, John M; Stoffel, Elena M

2015-08-21

Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (biallelic somatic MMR mutations), constitutional MMR deficiency syndrome (biallelic germline MMR mutations), and sporadic MSI CRC (somatic biallelic methylation of MLH1). HNPCC conditions with intact DNA MMR associated with familial CRC include polymerase proofreading associated polyposis and familial colorectal cancer type X. Although next generation sequencing technologies have elucidated the genetic cause for some HNPCC conditions, others remain genetically undefined. Differentiating between Lynch syndrome and the other HNPCC disorders has profound implications for cancer risk assessment and surveillance of affected patients and their at-risk relatives. Clinical suspicion coupled with molecular tumor analysis and testing for germline mutations can help differentiate the clinical mimicry within HNPCC and facilitate diagnosis and management.

An inactive lifestyle and low physical fitness are associated with functional somatic symptoms in adolescents. The TRAILS study

NARCIS (Netherlands)

Janssens, Karin A. M.; Oldehinkel, Albertine J.; Bonvanie, Irma J.; Rosmalen, Judith G. M.

Objective: An inactive lifestyle has been associated with functional somatic symptoms (FSS), but findings are contradictory. Moreover, mediating factors in this relationship are unclear. We examined whether low physical activity was related to FSS in adolescents, and whether this association was

Mindfulness-based therapies in the treatment of somatization disorders: a systematic review and meta-analysis.

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Shaheen E Lakhan

Full Text Available BACKGROUND: Mindfulness-based therapy (MBT has been used effectively to treat a variety of physical and psychological disorders, including depression, anxiety, and chronic pain. Recently, several lines of research have explored the potential for mindfulness-therapy in treating somatization disorders, including fibromyalgia, chronic fatigue syndrome, and irritable bowel syndrome. METHODS: Thirteen studies were identified as fulfilling the present criteria of employing randomized controlled trials to determine the efficacy of any form of MBT in treating somatization disorders. A meta-analysis of the effects of mindfulness-based therapy on pain, symptom severity, quality of life, depression, and anxiety was performed to determine the potential of this form of treatment. FINDINGS: While limited in power, the meta-analysis indicated a small to moderate positive effect of MBT (compared to wait-list or support group controls in reducing pain (SMD = -0.21, 95% CI: -0.37, -0.03; p<0.05, symptom severity (SMD = -0.40, 95% CI: -0.54, -0.26; p<0.001, depression (SMD = -0.23, 95% CI: -0.40, -0.07, p<0.01, and anxiety (SMD = -0.20, 95% CI: -0.42, 0.02, p = 0.07 associated with somatization disorders, and improving quality of life (SMD = 0.39, 95% CI: 0.19, 0.59; p<0.001 in patients with this disorder. Subgroup analyses indicated that the efficacy of MBT was most consistent for irritable bowel syndrome (p<0.001 for pain, symptom severity, and quality of life, and that mindfulness-based stress reduction (MBSR and mindfulness-based cognitive therapy (MCBT were more effective than eclectic/unspecified MBT. CONCLUSIONS: Preliminary evidence suggests that MBT may be effective in treating at least some aspects of somatization disorders. Further research is warranted.

Visceral Afferent Pathways and Functional Brain Imaging

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Stuart W.G. Derbyshire

2003-01-01

Full Text Available The application of functional imaging to study painful sensations has generated considerable interest regarding insight into brain dysfunction that may be responsible for functional pain such as that suffered in patients with irritable bowel syndrome (IBS. This review provides a brief introduction to the development of brain science as it relates to pain processing and a snapshot of recent functional imaging results with somatic and visceral pain. Particular emphasis is placed on current hypotheses regarding dysfunction of the brain-gut axis in IBS patients. There are clear and interpretable differences in brain activation following somatic as compared with visceral noxious sensation. Noxious visceral distension, particularly of the lower gastrointestinal tract, activates regions associated with unpleasant affect and autonomic responses. Noxious somatic sensation, in contrast, activates regions associated with cognition and skeletomotor responses. Differences between IBS patients and control subjects, however, were far less clear and interpretable. While this is in part due to the newness of this field, it also reflects weaknesses inherent within the current understanding of IBS. Future use of functional imaging to examine IBS and other functional disorders will be more likely to succeed by describing clear theoretical and clinical endpoints.

'I'm more sick than my doctors think': ethical issues in managing somatization in developing countries.

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Chandra, Prabha S; Satyanarayana, Veena A

2013-02-01

Several ethical issues confront the healthcare professional who is managing somatization in developing countries where cost constraints, low literacy, poverty, poor nutrition and infections and inadequate access to healthcare are common. The paper discusses these in the context of the ethical principles of autonomy, beneficence, non-maleficence and justice. Some of the ethical issues in managing somatization include being influenced by patient distress rather than rational medical decision-making, inadequate attention to the cultural meaning of symptoms, psychologizing versus medicalizing, the ethics of nomenclature and labels, communicating ethically with patients, and managing them adequately given lack of evidence and training. An ethical approach to managing somatization in this context would include using an integrated and simultaneous medical and psychiatric approach. To ensure patient beneficence, the medical, psychological and social assessment should be undertaken side-by-side as much as possible and should be cost effective. Respecting patient autonomy by using adequate communication methods and the patient's cultural model of the illness as part of management is also integral to ethical practice. In the developing world, issues of equity are also an important ethical concern. When more serious illnesses are the health priority, functional syndromes may not get equal importance or resources.

Respiratory function in the prune-belly syndrome.

OpenAIRE

Crompton, C H; MacLusky, I B; Geary, D F

1993-01-01

Respiratory function was evaluated in 11 patients with prune-belly syndrome. Nine had evidence of gas trapping and six of restrictive lung disease. These abnormalities of lung function appear to be secondary to the musculoskeletal disorder associated with prune-belly syndrome rather than parenchymal lung disease.

Respiratory function in the prune-belly syndrome.

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Crompton, C H; MacLusky, I B; Geary, D F

1993-01-01

Respiratory function was evaluated in 11 patients with prune-belly syndrome. Nine had evidence of gas trapping and six of restrictive lung disease. These abnormalities of lung function appear to be secondary to the musculoskeletal disorder associated with prune-belly syndrome rather than parenchymal lung disease. PMID:8503677

Accessing Autonomic Function Can Early Screen Metabolic Syndrome

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Dai, Meng; Li, Mian; Yang, Zhi; Xu, Min; Xu, Yu; Lu, Jieli; Chen, Yuhong; Liu, Jianmin; Ning, Guang; Bi, Yufang

2012-01-01

Background Clinical diagnosis of the metabolic syndrome is time-consuming and invasive. Convenient instruments that do not require laboratory or physical investigation would be useful in early screening individuals at high risk of metabolic syndrome. Examination of the autonomic function can be taken as a directly reference and screening indicator for predicting metabolic syndrome. Methodology and Principal Findings The EZSCAN test, as an efficient and noninvasive technology, can access autonomic function through measuring electrochemical skin conductance. In this study, we used EZSCAN value to evaluate autonomic function and to detect metabolic syndrome in 5,887 participants aged 40 years or older. The EZSCAN test diagnostic accuracy was analyzed by receiver operating characteristic curves. Among the 5,815 participants in the final analysis, 2,541 were diagnosed as metabolic syndrome and the overall prevalence was 43.7%. Prevalence of the metabolic syndrome increased with the elevated EZSCAN risk level (p for trend metabolic syndrome components (p for trend metabolic syndrome after the multiple adjustments. The area under the curve of the EZSCAN test was 0.62 (95% confidence interval [CI], 0.61–0.64) for predicting metabolic syndrome. The optimal operating point for the EZSCAN value to detect a high risk of prevalent metabolic syndrome was 30 in this study, while the sensitivity and specificity were 71.2% and 46.7%, respectively. Conclusions and Significance In conclusion, although less sensitive and accurate when compared with the clinical definition of metabolic syndrome, we found that the EZSCAN test is a good and simple screening technique for early predicting metabolic syndrome. PMID:22916265

Clinical implications of somatic mutations in aplastic anemia and myelodysplastic syndrome in genomic age.

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Maciejewski, Jaroslaw P; Balasubramanian, Suresh K

2017-12-08

Recent technological advances in genomics have led to the discovery of new somatic mutations and have brought deeper insights into clonal diversity. This discovery has changed not only the understanding of disease mechanisms but also the diagnostics and clinical management of bone marrow failure. The clinical applications of genomics include enhancement of current prognostic schemas, prediction of sensitivity or refractoriness to treatments, and conceptualization and selective application of targeted therapies. However, beyond these traditional clinical aspects, complex hierarchical clonal architecture has been uncovered and linked to the current concepts of leukemogenesis and stem cell biology. Detection of clonal mutations, otherwise typical of myelodysplastic syndrome, in the course of aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria has led to new pathogenic concepts in these conditions and created a new link between AA and its clonal complications, such as post-AA and paroxysmal nocturnal hemoglobinuria. Distinctions among founder vs subclonal mutations, types of clonal evolution (linear or branching), and biological features of individual mutations (sweeping, persistent, or vanishing) will allow for better predictions of the biologic impact they impart in individual cases. As clonal markers, mutations can be used for monitoring clonal dynamics of the stem cell compartment during physiologic aging, disease processes, and leukemic evolution. © 2016 by The American Society of Hematology. All rights reserved.

Are Cardiac Autonomic Nervous System Activity and Perceived Stress Related to Functional Somatic Symptoms in Adolescents? The TRAILS Study

NARCIS (Netherlands)

K.A.M. Janssens (Karin); H. Riese (Harriëtte); A.M.M. van Roon (Arie); J.A.M. Hunfeld (Joke); Groot, P.F.C. (Paul F. C.); A.J. Oldehinkel (Albertine); J.G.M. Rosmalen (Judith)

2016-01-01

textabstractObjective Stressors have been related to medically insufficiently explained or functional somatic symptoms (FSS). However, the underlying mechanism of this association is largely unclear. In the current study, we examined whether FSS are associated with different perceived stress and

Are Cardiac Autonomic Nervous System Activity and Perceived Stress Related to Functional Somatic Symptoms in Adolescents? The TRAILS Study

NARCIS (Netherlands)

Janssens, Karin A. M.; Riese, Harriëtte; van Roon, Arie M.; Hunfeld, Joke A. M.; Groot, Paul F. C.; Oldehinkel, Albertine J.; Rosmalen, Judith G. M.

2016-01-01

Stressors have been related to medically insufficiently explained or functional somatic symptoms (FSS). However, the underlying mechanism of this association is largely unclear. In the current study, we examined whether FSS are associated with different perceived stress and cardiac autonomic nervous

Are Cardiac Autonomic Nervous System Activity and Perceived Stress Related to Functional Somatic Symptoms in Adolescents? The TRAILS Study

NARCIS (Netherlands)

Janssens, Karin A. M.; Riese, Harriette; Van Roon, Arie M.; Hunfeld, Joke A. M.; Groot, Paul F. C.; Oldehinkel, Albertine J.; Rosmalen, Judith G. M.

2016-01-01

Objective Stressors have been related to medically insufficiently explained or functional somatic symptoms (FSS). However, the underlying mechanism of this association is largely unclear. In the current study, we examined whether FSS are associated with different perceived stress and cardiac

Involvement of chronic epipharyngitis in autoimmune (auto-inflammatory) syndrome induced by adjuvants (ASIA).

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Hotta, Osamu; Tanaka, Ayaki; Torigoe, Akira; Imai, Kazuaki; Ieiri, Norio

2017-02-01

The epipharynx is an immunologically active site even under normal conditions, and enhanced immunologic activation is prone to occur in response to an upper respiratory infection, air pollution, and possibly to vaccine adjuvants. Due to the potential link between the central nervous system and immune function, a relationship between epipharyngitis and autonomic nervous disturbance as well as autoimmune disease has been suggested. Various functional somatic symptoms have been described after human papillomavirus (HPV) vaccination, although a causal relationship has not been established. We examined the epipharynx in young women showing functional somatic symptoms following HPV vaccination. Surprisingly, despite having minimal symptoms involving the pharynx, all patients were found to have severe epipharyngitis. In addition, significant improvement in symptoms was seen in most patients who underwent epipharyngeal treatment. Thus, we speculate that the chronic epipharyngitis potentially caused by the vaccine adjuvant may be involved in the pathogenesis of functional somatic syndrome (FSS) post-HPV vaccination. Further, we suggest that epipharyngeal treatment may be effective for various types of FSS regardless of the initial cause, as well as for some autoimmune diseases, and that this may be an important direction in future research.

The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome.

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Sienko, Magdalena; Petriczko, Elżbieta; Zajaczek, Stanislaw; Zygmunt-Gorska, Agata; Starzyk, Jerzy; Korpysz, Alicja; Petriczko, Jan; Walczak, Alicja; Walczak, Mieczysław

2017-12-01

Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients. Children with SRS have severely impaired physical growth - intrauterine and after birth. This, together with the aforementioned dysmorphic features, forms the main diagnostic criteria. The study group consisted of 12 children treated with growth hormone, aged 2 to 17 (8.9±4.0 years), therein, all of whom met the phenotype diagnostic criteria by Wollmann and Price. The effects of growth hormone therapy on somatic development of these children are also presented. Height and weight improved as a result of growth hormone treatment, but the effects were significantly worse than in children with IUGR. Children from the study group presented also a smaller an improvement in growth velocity than children from the control group, but the difference was statistically insignificant. Growth hormone therapy accelerates the growth of children with SRS but to a smaller extent than the growth of children born with intrauterine growth retardation without dysmorphic features.

SOMATIC EMBRYOGENESIS AND MORPHOANATOMY OF Ocotea porosa SOMATIC EMBRYOS

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Luciana Luiza Pelegrini

2013-01-01

Full Text Available Ocotea porosa seeds have strong tegument dormancy, recalcitrant behavior, low and irregular germination and that makes its natural propagation difficult. The aim of this study was to establish a protocol of regeneration of Ocotea porosa from somatic embryogenesis. Immature embryonic axes were inoculated on WPM culture medium supplemented with 2.4-D (200 μM combined or not with hydrolyzed casein or glutamine (0.5 or 1 g l-1, during 90 days. The repetitive embryogenesis was induced on medium with 2.4-D (22.62 μM combined with 2-iP (2.46 μM followed by transfer to culture medium with hydrolyzed casein or glutamine (1 g l-1 during 90 days. The maturation of somatic embryos was tested in culture medium containing NAA (0.5 μM and 2-iP (5; 10 and 20 μM. The highest percentage of somatic embryos induction (8.3% was observed in WPM culture medium containing 200 μM 2.4-D and 1 g L-1 hydrolyzed casein and the development of somatic embryos occurred indirectly. Repetitive somatic embryogenesis was promoted in WPM medium containing hydrolyzed casein or glutamine. However, the culture medium containing hydrolyzed casein promoted the maintenance of embryogenic capacity for more than two years. During the maturity phase, there was a low progression of globular embryos to cordiform and torpedo stages. The different ontogenetic stages of somatic embryos of Ocotea porosa were characterized by histological studies.

SOMATIC EMBRYOGENESIS AND MORPHOANATOMY OF Ocotea porosa SOMATIC EMBRYOS

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Luciana Luiza Pelegrini

2013-12-01

Full Text Available http://dx.doi.org/10.5902/1980509812343Ocotea porosa seeds have strong tegument dormancy, recalcitrant behavior, low and irregular germinationand that makes its natural propagation difficult. The aim of this study was to establish a protocol ofregeneration of Ocotea porosa from somatic embryogenesis. Immature embryonic axes were inoculatedon WPM culture medium supplemented with 2.4-D (200 μM combined or not with hydrolyzed casein orglutamine (0.5 or 1 g l-1, during 90 days. The repetitive embryogenesis was induced on medium with 2.4-D(22.62 μM combined with 2-iP (2.46 μM followed by transfer to culture medium with hydrolyzed caseinor glutamine (1 g l-1 during 90 days. The maturation of somatic embryos was tested in culture mediumcontaining NAA (0.5 μM and 2-iP (5; 10 and 20 μM. The highest percentage of somatic embryos induction(8.3% was observed in WPM culture medium containing 200 μM 2.4-D and 1 g L-1 hydrolyzed casein andthe development of somatic embryos occurred indirectly. Repetitive somatic embryogenesis was promotedin WPM medium containing hydrolyzed casein or glutamine. However, the culture medium containinghydrolyzed casein promoted the maintenance of embryogenic capacity for more than two years. Duringthe maturity phase, there was a low progression of globular embryos to cordiform and torpedo stages.The different ontogenetic stages of somatic embryos of Ocotea porosa were characterized by histologicalstudies.

Symptoms and Syndromes of Bodily Distress: An Exploratory Study of 978 Internal Medical, Neurological, and Primary Care Patients

DEFF Research Database (Denmark)

Fink, Per; Toft, Tomas; Hansen, Morten Steen

2007-01-01

OBJECTIVE: Physical complaints not attributable to verifiable, conventionally defined diseases, i.e., medically unexplained or functional somatic symptoms, are prevalent in all medical settings, but their classification is contested as numerous overlapping diagnoses and syndrome labels have been...... using the Schedules for Clinical Assessment in Neuropsychiatry (SCAN) diagnostic instrument. RESULTS: Patients complained of a median of five functional somatic symptoms; women of six, men of four (p ... component factor analysis identified a cardiopulmonary including autonomic (CP), a musculoskeletal (MS), and a gastrointestinal (GI) symptom group explaining 36.9% of the variance. Latent class analysis showed that the symptom groups are likely to materialize in the same patients, suggesting...

Dysfunction of the hypothalamic-pituitary-adrenal axis and functional somatic symptoms : A longitudinal cohort study in the general population

NARCIS (Netherlands)

Tak, Lineke M.; Bakker, Stephan J. L.; Rosmalen, Judith G. M.

In persons with functional somatic symptoms (FSS), no conventionally defined organic pathology is apparent. It has been suggested that complex interactions of psychological, physiological, and social factors are involved in the etiology of FSS. One of the physiological mechanisms that may contribute

Somatic complaints in childhood : how they are related to children's emotional and social functioning

NARCIS (Netherlands)

Jellesma, Francisca Catharina

2008-01-01

This thesis deals with emotional and social influences on childhood somatic complaints. Strong support is provided for the idea that negative affect contributes to the development of somatic complaints in childhood. In addition, the studies described give information about the type and levels of

Annual Costs of Care for Pediatric Irritable Bowel Syndrome, Functional Abdominal Pain, and Functional Abdominal Pain Syndrome

NARCIS (Netherlands)

Hoekman, Daniël R.; Rutten, Juliette M. T. M.; Vlieger, Arine M.; Benninga, Marc A.; Dijkgraaf, Marcel G. W.

2015-01-01

To estimate annual medical and nonmedical costs of care for children diagnosed with irritable bowel syndrome (IBS) or functional abdominal pain (syndrome; FAP/FAPS). Baseline data from children with IBS or FAP/FAPS who were included in a multicenter trial (NTR2725) in The Netherlands were analyzed.

Physical "phantasies" and family functions: overcoming the mind/body dualism in somatization.

Science.gov (United States)

Redekop, F; Stuart, S; Mertens, C

1999-01-01

In this article, we examine some of the ways in which family therapists have conceptualized the experience of illness of unexplained physical origin. We argue that opinions about the etiology of somatic symptoms should not be the primary focus of therapeutic work with people who share the prototypical characteristics of what has been defined as "somatization disorder." We suggest that current research in neurobiology can expand the linguistic resources of clinicians and help them avoid perpetuating unhelpful dichotomies between the mind and the body.

Accessing autonomic function can early screen metabolic syndrome.

Directory of Open Access Journals (Sweden)

Kan Sun

Full Text Available BACKGROUND: Clinical diagnosis of the metabolic syndrome is time-consuming and invasive. Convenient instruments that do not require laboratory or physical investigation would be useful in early screening individuals at high risk of metabolic syndrome. Examination of the autonomic function can be taken as a directly reference and screening indicator for predicting metabolic syndrome. METHODOLOGY AND PRINCIPAL FINDINGS: The EZSCAN test, as an efficient and noninvasive technology, can access autonomic function through measuring electrochemical skin conductance. In this study, we used EZSCAN value to evaluate autonomic function and to detect metabolic syndrome in 5,887 participants aged 40 years or older. The EZSCAN test diagnostic accuracy was analyzed by receiver operating characteristic curves. Among the 5,815 participants in the final analysis, 2,541 were diagnosed as metabolic syndrome and the overall prevalence was 43.7%. Prevalence of the metabolic syndrome increased with the elevated EZSCAN risk level (p for trend <0.0001. Moreover, EZSCAN value was associated with an increase in the number of metabolic syndrome components (p for trend <0.0001. Compared with the no risk group (EZSCAN value 0-24, participants at the high risk group (EZSCAN value: 50-100 had a 2.35 fold increased risk of prevalent metabolic syndrome after the multiple adjustments. The area under the curve of the EZSCAN test was 0.62 (95% confidence interval [CI], 0.61-0.64 for predicting metabolic syndrome. The optimal operating point for the EZSCAN value to detect a high risk of prevalent metabolic syndrome was 30 in this study, while the sensitivity and specificity were 71.2% and 46.7%, respectively. CONCLUSIONS AND SIGNIFICANCE: In conclusion, although less sensitive and accurate when compared with the clinical definition of metabolic syndrome, we found that the EZSCAN test is a good and simple screening technique for early predicting metabolic syndrome.

PTSD and key somatic complaints and cultural syndromes among rural Cambodians: the results of a needs assessment survey.

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Hinton, Devon E; Hinton, Alexander L; Eng, Kok-Thay; Choung, Sophearith

2012-09-01

This article describes a culturally sensitive assessment tool for traumatized Cambodians, the Cambodian "Somatic Symptom and Syndrome Inventory" (SSI), and reports the outcome of a needs assessment conducted in rural Cambodia using the instrument. Villagers locally identified (N = 139) as still suffering the effects of the Pol Pot genocide were evaluated. All 139 had post-traumatic stress disorder (PTSD) as assessed by the PTSD Checklist (PCL), and they had elevated SSI scores. The severity of the SSI items varied by level of PTSD severity, and several items--for example, dizziness, dizziness on standing, khyâl (a windlike substance) attacks, and "thinking a lot"--were extremely elevated in those participants with higher levels of PTSD. The SSI was more highly correlated to self-perceived health (Short Form Health Survey-3) and past trauma events (Harvard Trauma Questionnaire) than was the PCL. The study shows the SSI items to be a core aspect of the Cambodian trauma ontology.

A-MUPS score to differentiate patients with somatic symptom disorder from those with medical disease for complaints of non-acute pain

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Suzuki S

2017-06-01

Full Text Available Shingo Suzuki, Yoshiyuki Ohira, Kazutaka Noda, Masatomi Ikusaka Department of General Medicine, Chiba University Hospital, Chiba, Japan Purpose: To develop a clinical score to discriminate patients with somatic symptom disorder (SSD from those with medical disease (MD for complaints of non-acute pain.Methods: We retrospectively examined the clinical records of consecutive patients with pain for a duration of ≥1 month in our department from April 2003 to March 2015. We divided the subjects according to the diagnoses of definite SSD (as diagnosed and tracked by psychiatrists in our hospital, probable SSD (without evaluation by psychiatrists in our hospital, matched MD (randomly matched two patients by age, sex, and pain location for each definite SSD patient, unmatched MD, other mental disease, or functional somatic syndrome (FSS. We investigated eight clinical factors for definite SSD and matched MD, and developed a diagnostic score to ­identify SSD. We subsequently validated the model with cases of probable SSD and unmatched MD.Results: The number of patients with definite SSD, probable SSD, matched MD, unmatched MD, other mental disease, and FSS was 104 (3.5%, 214 (7.3%, 197 (6.7%, 742 (25%, 708 (24%, and 978 (33%, respectively. In a conditional logistic regression analysis, the following five factors were included as independent predictors of SSD: Analgesics ineffective, Mental disorder history, Unclear provocative/palliative factors, Persistence without cessation, and Stress feelings/episodes (A-MUPS. The area under the receiver operating characteristic curve (AUC of the model was 0.900 (95% CI: 0.864–0.937, p<0.001, and the McFadden’s pseudo-R-squared was 0.709. For internal validation, the AUC between probable SSD and unmatched MD was 0.930 (95% CI: 0.910–0.950, p<0.001. The prevalence and the likelihood ratio of SSD increased as the score increased.Conclusion: The A-MUPS score was useful for discriminating patients with SSD from

Systematic review of measurement properties of questionnaires measuring somatization in primary care patients.

Science.gov (United States)

Sitnikova, Kate; Dijkstra-Kersten, Sandra M A; Mokkink, Lidwine B; Terluin, Berend; van Marwijk, Harm W J; Leone, Stephanie S; van der Horst, Henriëtte E; van der Wouden, Johannes C

2017-12-01

The aim of this review is to critically appraise the evidence on measurement properties of self-report questionnaires measuring somatization in adult primary care patients and to provide recommendations about which questionnaires are most useful for this purpose. We assessed the methodological quality of included studies using the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) checklist. To draw overall conclusions about the quality of the questionnaires, we conducted an evidence synthesis using predefined criteria for judging the measurement properties. We found 24 articles on 9 questionnaires. Studies on the Patient Health Questionnaire-15 (PHQ-15) and the Four-Dimensional Symptom Questionnaire (4DSQ) somatization subscale prevailed and covered the broadest range of measurement properties. These questionnaires had the best internal consistency, test-retest reliability, structural validity, and construct validity. The PHQ-15 also had good criterion validity, whereas the 4DSQ somatization subscale was validated in several languages. The Bodily Distress Syndrome (BDS) checklist had good internal consistency and structural validity. Some evidence was found for good construct validity and criterion validity of the Physical Symptom Checklist (PSC-51) and good construct validity of the Symptom Check-List (SCL-90-R) somatization subscale. However, these three questionnaires were only studied in a small number of primary care studies. Based on our findings, we recommend the use of either the PHQ-15 or 4DSQ somatization subscale for somatization in primary care. Other questionnaires, such as the BDS checklist, PSC-51 and the SCL-90-R somatization subscale show promising results but have not been studied extensively in primary care. Copyright © 2017 Elsevier Inc. All rights reserved.

Idiopathic burning mouth syndrome: a common treatment-refractory somatoform condition responsive to ECT.

Science.gov (United States)

McGirr, Alexander; Davis, Lindsay; Vila-Rodriguez, Fidel

2014-04-30

Somatic symptom disorders are common causes of disability and suffering, and can pose significant management challenges. Idiopathic burning mouth syndrome is a challenging somatic symptom disorder with relatively high prevalence, particularly among post-menopausal women. Here, we present the case of a woman with severe treatment refractory idiopathic burning mouth syndrome and comorbid major depressive disorder, who was successfully treated with bitemporal electroconvulsive therapy. This case highlights the potential effectiveness of electroconvulsive therapy in idiopathic burning mouth syndrome when other treatment options have been exhausted. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

COTARD SYNDROME IN SEMANTIC DEMENTIA

Science.gov (United States)

Mendez, Mario F.; Ramírez-Bermúdez, Jesús

2011-01-01

Background Semantic dementia is a neurodegenerative disorder characterized by the loss of meaning of words or concepts. semantic dementia can offer potential insights into the mechanisms of content-specific delusions. Objective The authors present a rare case of semantic dementia with Cotard syndrome, a delusion characterized by nihilism or self-negation. Method The semantic deficits and other features of semantic dementia were evaluated in relation to the patient's Cotard syndrome. Results Mrs. A developed the delusional belief that she was wasting and dying. This occurred after she lost knowledge for her somatic discomforts and sensations and for the organs that were the source of these sensations. Her nihilistic beliefs appeared to emerge from her misunderstanding of her somatic sensations. Conclusion This unique patient suggests that a mechanism for Cotard syndrome is difficulty interpreting the nature and source of internal pains and sensations. We propose that loss of semantic knowledge about one's own body may lead to the delusion of nihilism or death. PMID:22054629

Somatic diseases in patients with schizophrenia in general practice: their prevalence and health care.

Science.gov (United States)

Oud, Marian J T; Meyboom-de Jong, Betty

2009-05-09

Schizophrenia patients frequently develop somatic co-morbidity. Core tasks for GPs are the prevention and diagnosis of somatic diseases and the provision of care for patients with chronic diseases. Schizophrenia patients experience difficulties in recognizing and coping with their physical problems; however GPs have neither specific management policies nor guidelines for the diagnosis and treatment of somatic co-morbidity in schizophrenia patients. This paper systematically reviews the prevalence and treatment of somatic co-morbidity in schizophrenia patients in general practice. The MEDLINE, EMBASE, PsycINFO data-bases and the Cochrane Library were searched and original research articles on somatic diseases of schizophrenia patients and their treatment in the primary care setting were selected. The results of this search show that the incidence of a wide range of diseases, such as diabetes mellitus, the metabolic syndrome, coronary heart diseases, and COPD is significantly higher in schizophrenia patients than in the normal population. The health of schizophrenic patients is less than optimal in several areas, partly due to their inadequate help-seeking behaviour. Current GP management of such patients appears not to take this fact into account. However, when schizophrenic patients seek the GP's help, they value the care provided. Schizophrenia patients are at risk of undetected somatic co-morbidity. They present physical complaints at a late, more serious stage. GPs should take this into account by adopting proactive behaviour. The development of a set of guidelines with a clear description of the GP's responsibilities would facilitate the desired changes in the management of somatic diseases in these patients.

Characterization of thrombosis in patients with Proteus syndrome.

Science.gov (United States)

Keppler-Noreuil, Kim M; Lozier, Jay N; Sapp, Julie C; Biesecker, Leslie G

2017-09-01

Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism. Of the remaining 47 living patients, six had thromboembolic events that all occurred postoperatively and in an affected limb. Eleven of 21 patients had an abnormal hypercoagulable panel including Factor V Leiden heterozygotes, antithrombin III deficiency, positive lupus anticoagulant, or Protein C or S deficiencies. We observed that eight of 17 patients had an abnormal D-dimer level >0.5 mcg/dl, but deep venous thromboses occurred in only four of those with D-dimer >1.0 mcg/dl. We conclude that the predisposition to thrombosis is likely to be multifaceted with risk factors including vascular malformations, immobility, surgery, additional prothrombotic factors, and possible pathophysiologic effects of the somatic AKT1 mutation on platelet function or the vascular endothelium. The D-dimer test is useful as a screen for thromboembolism, although the screening threshold may need to be adjusted for patients with this disorder. We propose developing a registry to collect D-dimer and outcome data to facilitate adjustment of the D-dimer threshold for Proteus syndrome and related disorders, including PIK3CA-Related Overgrowth Spectrum. © 2017 Wiley Periodicals, Inc.

Management of somatic symptoms

DEFF Research Database (Denmark)

Schröder, Andreas; Dimsdale, Joel

2014-01-01

on the recognition and effective management of patients with excessive and disabling somatic symptoms. The clinical presentation of somatic symptoms is categorized into three groups of patients: those with multiple somatic symptoms, those with health anxiety, and those with conversion disorder. The chapter provides...

A newborn with very rare von Voss-Cherstvoy syndrome and literature review

Directory of Open Access Journals (Sweden)

Sharma D

2016-07-01

Full Text Available Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Pradeep Sharma4 1Department of Pediatrics, Pt. Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, N.K.P. Salve Medical College, Nagpur, Maharashtra, 4Department of Medicine, Mahatma Gandhi Medical College and Research Institute, Jaipur, Rajasthan, India Introduction: von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities.Case presentation: We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder. The neonate was suspected to have von Voss-Cherstvoy syndrome on the basis of clinical features, which was further confirmed by fibroblast analysis showing somatic mosaicism for del(13q.Conclusion: von Voss-Cherstvoy syndrome is a very rare syndrome that can be suspected on the basis of typical clinical features and confirmed by fibroblast analysis showing somatic mosaicism for del(13q. This adds a second case of this chromosome anomaly described in this syndrome. Keywords: von Voss-Cherstvoy syndrome, radial ray defects, occipital encephalocele, urogenital abnormalities, somatic mosaicism for del(13q

Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma

International Nuclear Information System (INIS)

Koch, Christian A; Brouwers, Frederieke M; Vortmeyer, Alexander O; Tannapfel, Andrea; Libutti, Steven K; Zhuang, Zhengping; Pacak, Karel; Neumann, Hartmut PH; Paschke, Ralf

2006-01-01

Germline mutations in RET are responsible for multiple endocrine neoplasia type 2 (MEN2), an autosomal dominantly inherited cancer syndrome that is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid hyperplasia/adenoma. Recent studies suggest a 'second hit' mechanism resulting in amplification of mutant RET. Somatic VHL gene alterations are implicated in the pathogenesis of MEN2 pheochromocytomas. We hypothesized that somatic VHL gene alterations are also important in the pathogenesis of MEN2-associated MTC. We analyzed 6 MTCs and 1 C-cell hyperplasia (CCH) specimen from 7 patients with MEN2A and RET germline mutations in codons 609, 618, 620, or 634, using microdissection, microsatellite analysis, phosphorimage densitometry, and VHL mutation analysis. First, we searched for allelic imbalance between mutant and wild-type RET by using the polymorphic markers D10S677, D10S1239, and RET on thyroid tissue from these patients. Evidence for RET amplification by this technique could be demonstrated in 3 of 6 MTCs. We then performed LOH analysis using D3S1038 and D3S1110 which map to the VHL gene locus at 3p25/26. VHL gene deletion was present in 3 MTCs. These 3 MTCs also had an allelic imbalance between mutant and wild-type RET. Mutation analysis of the VHL gene showed a somatic frameshift mutation in 1 MTC that also demonstrated LOH at 3p25/26. In the 2 other MTCs with allelic imbalance of RET and somatic VHL gene deletion, no somatic VHL mutation could be detected. The CCH specimen did neither reveal RET imbalance nor somatic VHL gene alterations. These data suggest that a RET germline mutation is necessary for development of CCH, that allelic imbalance between mutant and wild-type RET may set off tumorigenesis, and that somatic VHL gene alterations may not play a major role in tumorigenesis of MEN2A-associated MTC

Three forms of somatization in primary care: prevalence, co-occurrence, and sociodemographic characteristics.

Science.gov (United States)

Kirmayer, L J; Robbins, J M

1991-11-01

Three definitions of somatization were operationalized: (a) high levels of functional somatic distress, measured by the Somatic Symptom Index (SSI) of the Diagnostic Interview Schedule; (b) hypochondriasis measured by high scores on a measure of illness worry in the absence of evidence for serious illness; and (c) exclusively somatic clinical presentations among patients with current major depression or anxiety. Of 685 patients attending two family medicine clinics, 26.3% met criteria for one or more forms of somatization. While DSM-III somatization disorder had a prevalence of only 1% in this population, 16.6% of the patients met abridged criteria for subsyndromal somatization disorder (SSI 4,6). Hypochondriacal worry had a prevalence of 7.7% in the clinic sample. Somatized presentations of current major depression or anxiety disorder had a prevalence of 8%. The three forms of somatization were associated with different sociodemographic and illness behavior characteristics. A majority of patients met criteria for only one type of somatization, suggesting that distinct pathogenic processes may be involved in each of the three types.

Somatic delusions and obsessive-compulsive disorder in ...

African Journals Online (AJOL)

2009-10-12

Oct 12, 2009 ... Case Study: Somatic delusions and obsessive-compulsive disorder in schizophrenia. 527. Vol 52 No 6 ... liver function, and urea and electrolytes), including an ... neurotransmitter systems (such as serotonin and dopamine).

Somatic gene mutation in the human in relation to radiation risk

International Nuclear Information System (INIS)

Mendelsohn, M.L.

1992-01-01

This report discusses the measurement of somatic gene-mutation frequencies in the human. We ask the following questions. How well can they be measured? Do they respond to radiation? Can they also function as a dosimeter? What do they tell us about the somatic mutation theory of carcinogenesis?

Is somatic comorbidity associated with more somatic symptoms, mental distress, or unhealthy lifestyle in elderly cancer survivors?

Science.gov (United States)

Grov, Ellen Karine; Fosså, Sophie D; Dahl, Alv A

2009-06-01

The associations of lifestyle factors, somatic symptoms, mental distress, and somatic comorbidity in elderly cancer survivors have not been well studied. This study examines these associations among elderly cancer survivors (age >or=65 years) in a population-based sample. A cross-sectional comparative study of Norwegian elderly cancer survivors. Combining information from The Norwegian Cancer Registry, and by self-reporting, 972 elderly cancer survivors were identified, of whom 632 (65%) had somatic comorbidity and 340 did not. Elderly cancer survivors with somatic comorbidity had significantly higher BMI, more performed minimal physical activity, had more somatic symptoms, used more medication, and had more frequently seen a medical doctor than survivors without somatic comorbidity. In multivariable analyses, unhealthy lifestyle and higher somatic symptoms scores were significantly associated with cancer cases with somatic comorbidity. In univariate analyses those with somatic comorbidity were significantly older, had lower levels of education, higher proportions of BMI >or= 30, less physical activity, poorer self-rated health, higher somatic symptoms score, more mental distress, had more frequently seen a medical doctor last year, and more frequently used daily medication. Our outcome measures of lifestyle, somatic symptoms and mental distress were all significantly associated with somatic comorbidity in elderly cancer survivors, however only lifestyle and somatic symptoms were significant in multivariable analyses. In elderly cancer survivors not only cancer, but also somatic comorbidity, deserve attention. Such comorbidity is associated with unhealthy lifestyles, more somatic symptoms and mental distress which should be evaluated and eventually treated.

Disturbances Caused by Premenstrual Syndrome among College Female Students

OpenAIRE

北村, 陽英; 内, さゆり

2002-01-01

Using a questionnaire which asseses premenstrual syndrome and dysmenorrhea symptoms, we investigated 308 college female students in December, 2001. Ninety-nine percent of these students were suffering from premenstrual syndrome, and all students were suffering from dysmenorrhea symptoms. Comparing symtoms of premenstrual syndrome with dysmenorrhea, there are a lot of somatic symptoms in both conditions, but premenstrual syndrome has more mental symptoms than dysmenorrhea. Symptomatically, it ...

The Effectiveness of Somatization in Communicating Distress in Korean and American Cultural Contexts

Science.gov (United States)

Choi, Eunsoo; Chentsova-Dutton, Yulia; Parrott, W. Gerrod

2016-01-01

Previous research has documented that Asians tend to somatize negative experiences to a greater degree than Westerners. It is posited that somatization may be a more functional communication strategy in Korean than American context. We examined the effects of somatization in communications of distress among participants from the US and Korea. We predicted that the communicative benefits of somatic words used in distress narratives would depend on the cultural contexts. In Study 1, we found that Korean participants used more somatic words to communicate distress than US participants. Among Korean participants, but not US participants, use of somatic words predicted perceived effectiveness of the communication and expectations of positive reactions (e.g., empathy) from others. In Study 2, we found that when presented with distress narratives of others, Koreans (but not Americans) showed more sympathy in response to narratives using somatic words than narratives using emotional words. These findings suggest that cultural differences in use of somatization may reflect differential effectiveness of somatization in communicating distress across cultural contexts. PMID:27047414

The Effectiveness of Somatization in Communicating Distress in Korean and American Cultural Contexts

Directory of Open Access Journals (Sweden)

Eunsoo eChoi

2016-03-01

Full Text Available Previous research has documented that Asians tend to somatize negative experiences to a greater degree than Westerners. It is posited that somatization may be a more functional communication strategy in Korean than American context. We examined the effects of somatization in communications of distress among participants from the US and Korea. We predicted that the communicative benefits of somatic words used in distress narratives would depend on the cultural contexts. In Study 1, we found that Korean participants used more somatic words to communicate distress than US participants. Among Korean participants, but not US participants, use of somatic words predicted perceived effectiveness of the communication and expectations of positive reactions (e.g., empathy from others. In study 2, we found that when presented with distress narratives of others, Koreans (but not Americans showed more sympathy in response to narratives using somatic words than narratives using emotional words. These findings suggest that cultural differences in use of somatization may reflect differential effectiveness of somatization in communicating distress across cultural contexts.

Somatic diseases in patients with schizophrenia in general practice: their prevalence and health care

Directory of Open Access Journals (Sweden)

Meyboom-de Jong Betty

2009-05-01

Full Text Available Abstract Background Schizophrenia patients frequently develop somatic co-morbidity. Core tasks for GPs are the prevention and diagnosis of somatic diseases and the provision of care for patients with chronic diseases. Schizophrenia patients experience difficulties in recognizing and coping with their physical problems; however GPs have neither specific management policies nor guidelines for the diagnosis and treatment of somatic co-morbidity in schizophrenia patients. This paper systematically reviews the prevalence and treatment of somatic co-morbidity in schizophrenia patients in general practice. Methods The MEDLINE, EMBASE, PsycINFO data-bases and the Cochrane Library were searched and original research articles on somatic diseases of schizophrenia patients and their treatment in the primary care setting were selected. Results The results of this search show that the incidence of a wide range of diseases, such as diabetes mellitus, the metabolic syndrome, coronary heart diseases, and COPD is significantly higher in schizophrenia patients than in the normal population. The health of schizophrenic patients is less than optimal in several areas, partly due to their inadequate help-seeking behaviour. Current GP management of such patients appears not to take this fact into account. However, when schizophrenic patients seek the GP's help, they value the care provided. Conclusion Schizophrenia patients are at risk of undetected somatic co-morbidity. They present physical complaints at a late, more serious stage. GPs should take this into account by adopting proactive behaviour. The development of a set of guidelines with a clear description of the GP's responsibilities would facilitate the desired changes in the management of somatic diseases in these patients.

‘Gas Syndrome’ - A Culture Bound Syndrome

Directory of Open Access Journals (Sweden)

Anil Kakunje

2014-02-01

Full Text Available Culture refers to the shared patterns of feelings, beliefs and behaviour that reflect in the way of living in a society. Culture uniquely influence the role functioning or psychosoical wellbeing of people living in a given society by exerting influence on their mind by their traditional health beliefs. Cultural factors influence understanding, presentation, diagnosis, management, course and outcome of many diseases, especially psychiatric disorders. Culture-bound syndromes seem to be episodic, dramatic and discrete patterns of behavioral reactions specific to a particular community that articulate both personal predicament and public concerns. Every culture provides explanations and causal attributions for somatic symptoms. One of the common complaints of persons coming to medical attention is ‘Gas’ or similar terminologies like ‘vayu’ etc. People attribute varied symptoms from abdominal discomfort, chest pain, headache, joint pains, back pain, somatic complaints to ‘Gas’. ‘Gas’ is reported to be the cause for the distress and the primary duty of the treating clinician is to relieve them of the gas. The problem of troubling Gas or vayu has been influencing Indian culture/tradition since ancient days. We do see a significant proportion of patients visiting varied specialists attributing all their problems to Gas. 'Gas Syndrome’ is proposed as a culture bound syndrome.

Family disruption increases functional somatic symptoms in late adolescence: the TRAILS study.

Science.gov (United States)

van Gils, Anne; Janssens, Karin A M; Rosmalen, Judith G M

2014-11-01

Functional somatic symptoms (FSSs) are physical symptoms that cannot be (fully) explained by organic pathology. FSSs are very common among children and adolescents, yet their etiology is largely unknown. We hypothesize that (a) the experience of family disruption due to parental divorce or parental death increases FSSs in adolescents; (b) symptoms of depression and anxiety contribute to the relationship between family disruption and FSSs; (c) girls are more vulnerable to these effects than boys. Data were obtained from the prospective population cohort of Dutch adolescents of the Tracking Adolescents' Individual Lives Survey (N = 2,230), aged 10 to 12 years at baseline. FSSs were assessed using the Somatic Complaints subscale of the Youth Self-Report. Parental divorce and parental death were assessed with self-reports. Both outcome and predictors were assessed during 3 assessment waves over the course of 5 years. Linear mixed models were used to investigate associations between both types of family disruption and FSSs. An interaction with age was found for parental divorce (B = 0.01, p = .02) and parental death (B = 0.03, p = .04), indicating that the influence of family disruption on FSSs increases during adolescence. This relationship seems to be partly explained by symptoms of depression and anxiety. No gender differences were found with regard to the effects of family disruption on FSSs. Family disruption is associated with an increased level of FSSs in late adolescence in both genders. This relationship is partly explained by symptoms of depression and/or anxiety. PsycINFO Database Record (c) 2014 APA, all rights reserved.

Females too suffer from Dhat syndrome: A case series and revisit of the concept

OpenAIRE

Grover, Sandeep; Kate, Natasha; Avasthi, Ajit; Rajpal, Nikita; Umamaheswari, V.

2014-01-01

Dhat syndrome as a clinical entity has been rarely described in females. Ethnographic studies suggest that as in males, whitish vaginal discharge in females is also associated with depressive and somatic symptoms and many women with symptoms of whitish discharge attribute their depressive and somatic symptoms to the whitish discharge. In this report, we describe two female patients who presented with psychiatric manifestations also with somatic symptoms and attributed their somatic complaints...

When does hardship matter for health? Neighborhood and individual disadvantages and functional somatic symptoms from adolescence to mid-life in The Northern Swedish Cohort.

Science.gov (United States)

Gustafsson, Per E; San Sebastian, Miguel

2014-01-01

A large body of research has shown that health is influenced by disadvantaged living conditions, including both personal and neighborhood conditions. Little is however known to what degree the health impact of different forms of disadvantage differ along the life course. The present study aims to examine when, during the life course, neighborhood and individual disadvantages relate to functional somatic symptoms. Participants (n = 992) came from The Northern Swedish Cohort and followed from age 16, 21, 30 until 42 years. Functional somatic symptoms, socioeconomic disadvantage, and social and material adversity were measured through questionnaires and linked to register data on neighborhood disadvantage. Data was analyzed with longitudinal and cross-sectional multilevel models. Results showed that neighborhood disadvantage, social and material adversity and gender all contributed independently to overall levels of symptoms across the life course. Cross-sectional analyses also suggested that the impact of disadvantage differed between life course periods; neighborhood disadvantage was most important in young adulthood, and the relative importance of material versus social adversity increased as participants grew older. In summary, the study suggests that disadvantages from different contextual sources may affect functional somatic health across the life course, but also through life course specific patterns.

Enduring somatic threat perceptions and post-traumatic stress disorder symptoms in survivors of cardiac events.

Science.gov (United States)

Meli, Laura; Alcántara, Carmela; Sumner, Jennifer A; Swan, Brendan; Chang, Bernard P; Edmondson, Donald

2017-04-01

Post-traumatic stress disorder due to acute cardiovascular events may be uniquely defined by enduring perceptions of somatic threat. We tested whether post-traumatic stress disorder at 1 month post-acute coronary syndrome indeed required both high peritraumatic threat during the acute coronary syndrome and ongoing cardiac threat perceptions. We assessed peritraumatic threat during emergency department enrollment of 284 patients with a provisional acute coronary syndrome diagnosis and cardiac threat perceptions and post-traumatic stress disorder symptoms 1 month post-discharge. In a multiple regression model with adjustment for important covariates, emergency department threat perceptions were associated with higher 1 month post-traumatic stress disorder symptoms only among those with high levels of ongoing cardiac threat.

A randomized trial of treatments for high-utilizing somatizing patients.

Science.gov (United States)

Barsky, Arthur J; Ahern, David K; Bauer, Mark R; Nolido, Nyryan; Orav, E John

2013-11-01

Somatization and hypochondriacal health anxiety are common sources of distress, impairment, and costly medical utilization in primary care practice. A range of interventions is needed to improve the care of these patients. To determine the effectiveness of two cognitive behavioral interventions for high-utilizing, somatizing patients, using the resources found in a routine care setting. Patients were randomly assigned to a two-step cognitive behavioral treatment program accompanied by a training seminar for their primary care physicians, or to relaxation training. Providers routinely working in these patients' primary care practices delivered the cognitive behavior therapy and relaxation training. A follow-up assessment was completed immediately prior to treatment and 6 and 12 months later. Eighty-nine medical outpatients with elevated levels of somatization, hypochondriacal health anxiety, and medical care utilization. Somatization and hypochondriasis, overall psychiatric distress, and role impairment were assessed with well-validated, self-report questionnaires. Outpatient visits and medical care costs before and after the intervention were obtained from the encounter claims database. At 6 month and 12 month follow-up, both intervention groups showed significant improvements in somatization (p somatization, hypochondriacal symptoms, overall psychiatric distress, and role function. They also reduced the ambulatory visits and costs of these high utilizing outpatients.

Linking Anger Trait with Somatization in Low-Grade College Students: Moderating Roles of Family Cohesion and Adaptability.

Science.gov (United States)

Liu, Liang; Liu, Cuilian; Zhao, Xudong

2017-02-25

Between 22% and 58% of patients in primary care settings complain of somatic symptoms. Previous research has found that somatization was associated with anger traits and family functions. However, studies that specifically assess the moderating effect of family function in how anger traits become somatic complaints are lacking. This study was designed to examine whether the variances in family cohesion and family adaptability moderated the strength of the relationship between anger traits and somatization. A cross-section design was conducted and 2008 college students were recruited from a comprehensive university in Shanghai. All participants finished questionnaires including Symptom Check List- 90 (SCL-90), State-Trait Anger Expression Inventory 2 (STAXI-2, Chinese version) and Family Adaptability and Cohesion Scale, second edition (FACES II, Chinese Version) to assess their degree of current somatization, anger trait and family function. Hierarchical linear regression analysis (Enter) was conducted respectively for men and women to examine the moderation effect of family cohesion and family adaptability in the association between anger and somatization. Somatic symptoms were significantly linked in the expected directions with depression and anger trait for both genders. Family cohesion and family adaptability were negatively associated with somatic symptoms. For female college students family cohesion was found to moderate the link between anger trait and somatization, but for male college students the moderation effect of family cohesion was marginally significant. The moderating role of family adaptability was significant for neither male nor female after current depressive symptoms were accounted for. Proneness to anger is an independent predictor of somatization. For women, a high level of family cohesion was a protective factor which could reduce the influence of anger trait on somatic symptoms. Without comorbidity of current depression, family

Cardiovascular autonomic function in Cushing's syndrome.

Science.gov (United States)

Fallo, F; Maffei, P; Dalla Pozza, A; Carli, M; Della Mea, P; Lupia, M; Rabbia, F; Sonino, N

2009-01-01

Cardiac autonomic dysfunction is associated with increased cardiovascular mortality. No data on sympathovagal balance are available in patients with Cushing's syndrome, in whom cardiovascular risk is high. We studied 10 patients with newly diagnosed Cushing's syndrome (1 male/9 females; age mean+/-SD, 47+/-10 yr) and 10 control subjects matched for age, sex, body mass index, and cardiovascular risk factors. In both groups there were 7 patients with arterial hypertension, 3 with diabetes mellitus, and 2 with obesity. Cardiac autonomic function was evaluated by analysis of short time heart rate variability (HRV) measures in frequency domain over 24-h, daytime, and nighttime. The 24-h ambulatory blood pressure monitoring and echocardiography were also performed. In comparison with controls, patients with Cushing's syndrome had lower 24-h (1.3+/-0.6 vs 3.7+/-1.5, mean+/-SD, p<0.01), daytime (2.0+/-1.4 vs 4.5+/-1.6, p<0.01), and night-time (1.0+/-0.4 vs 3.5+/-2.3, p<0.01) low-frequency/ high frequency (LF/HF) power ratio. In the presence of similar LF power, the difference was due to elevation in HF power in Cushing's syndrome compared to controls: 24-h, 12.7+/-6.7 vs 5.8+/-2.8, p<0.01; daytime, 10.2+/-7.3 vs 4.5+/-2.1, p<0.05; nighttime, 14.2+/-7.0 vs 7.8+/-4.7, p<0.05. Eight Cushing patients vs 4 controls had a non-dipping blood pressure profile. At echocardiography, Cushing patients had a greater left ventricular mass index and/or relative wall thickness, and impaired diastolic function, compared with controls. Compared to controls, patients with Cushing's syndrome showed a sympathovagal imbalance, characterized by a relatively increased parasympathetic activity. Whether this autonomic alteration is meant to counterbalance cortisol-induced effects on blood pressure and cardiac structure/function or has a different pathophysiological significance is still unknown.

Long-Term Physical Functioning and Its Association With Somatic Comorbidity and Comorbid Depression in Patients With Established Rheumatoid Arthritis: A Longitudinal Study

NARCIS (Netherlands)

van den Hoek, J.; Roorda, L.D.; Boshuizen, H.C.; van Hees, J.; Rupp, I.; Tijhuis, G.J.; Dekker, J.; van den Bos, G.A.M.

2013-01-01

Objective To describe long-term physical functioning and its association with somatic comorbidity and comorbid depression in patients with established rheumatoid arthritis (RA). Methods Longitudinal data over a period of 11 years were collected from 882 patients with RA at study inclusion.

Long-Term Physical Functioning and Its Association With Somatic Comorbidity and Comorbid Depression in Patients With Established Rheumatoid Arthritis: A Longitudinal Study

NARCIS (Netherlands)

Hoek, J.; Roorda, L.D.; Boshuizen, H.C.; Hees, van J.; Rupp, I.; Tijhuis, G.J.; Dekker, J.; Bos, van den G.A.M.

2013-01-01

ObjectiveTo describe long-term physical functioning and its association with somatic comorbidity and comorbid depression in patients with established rheumatoid arthritis (RA). MethodsLongitudinal data over a period of 11 years were collected from 882 patients with RA at study inclusion.

[Gallbladder contractility in children with functional abdominal pain or irritable bowel syndrome].

Science.gov (United States)

Iwańczak, Franciszek; Siedlecka-Dawidko, Jolanta; Iwanczak, Barbara

2013-07-01

III Rome Criteria of functional gastrointestinal disorders in children, distinguished the disturbances with abdominal pain, to which irritable bowel syndrome, functional abdominal pains, functional dyspepsia and abdominal migraine were included. THE AIM OF THE STUDY was sonographic assessment of the gallbladder and its contractility in functional abdominal pain and irritable bowel syndrome in children. The study comprised 96 children aged 6 to 18 years, 59 girls and 37 boys. Depending on diagnosis, the children were divided into three groups. 38 children with functional abdominal pain constituted the first group, 26 children with irritable bowel syndrome were included to the second group, the third group consisted of 32 healthy children (control group). Diagnosis of functional abdominal pain and irritable bowel syndrome was made based on the III Rome Criteria. In irritable bowel syndrome both forms with diarrhea (13) and with constipation (13) were observed. Anatomy and contractility of the gallbladder were assessed by ultrasound examination. The presence of septum, wall thickness, thick bile, vesicle volume in fasting state and 30th and 60th minute after test meal were taken into consideration. Test meal comprised about 15% of caloric requirement of moderate metabolism. Children with bile stones and organic diseases were excluded from the study. Thickened vesicle wall and thick bile were present more frequently in children with irritable bowel syndrome and functional abdominal pain than in control group (p functional abdominal pain than in irritable bowel syndrome and control group (p = 0.003, p = 0.05). Vesicle contractility after test meal was greatest in children with functional abdominal pain. Evaluation of diminished (smaller than 30%) and enlarged (greater then 80%) gallbladder contractility at 30th and 60th minute after test meal demonstrated disturbances of contractility in children with irritable bowel syndrome and functional abdominal pain. In children

Increased functional connectivity strength of right inferior temporal gyrus in first-episode, drug-naive somatization disorder.

Science.gov (United States)

Su, Qinji; Yao, Dapeng; Jiang, Muliang; Liu, Feng; Jiang, Jiajing; Xu, Chunxing; Dai, Yi; Yu, Miaoyu; Long, Liling; Li, Hongzheng; Liu, Jianrong; Zhang, Zhikun; Zhang, Jian; Xiao, Changqing; Guo, Wenbin

2015-01-01

Evidence of brain structural and functional alterations have been implicated in patients with somatization disorder (SD). However, little is known about brain functional connectivity in SD. In the present study, resting-state functional magnetic resonance imaging (fMRI) and graph theory were used to obtain a comprehensive view of whole-brain functional connectivity and to investigate the changes of voxel-wise functional networks in patients with SD. Twenty-five first-episode, medication-naive patients with SD and 28 age-, sex- and education-matched healthy controls (HCs) underwent resting-state fMRI. The graph theory approach was employed to analyze the data. Compared to the HCs, patients with SD showed significantly increased functional connectivity strength in the right inferior temporal gyrus (ITG). There is a significant positive correlation between the z-values of the cluster in the right ITG and Hamilton Anxiety Scale scores. Our findings indicate that there is a disruption of the functional connectivity pattern in the right ITG in first-episode, treatment-naive patients with SD, which bears clinical significance. © The Royal Australian and New Zealand College of Psychiatrists 2014.

A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review.

Science.gov (United States)

Liu, Qiuli; Wang, Yan; Tong, Dali; Liu, Gaolei; Yuan, Wenqiang; Zhang, Jun; Ye, Jin; Zhang, Yao; Yuan, Gang; Feng, Qingxing; Zhang, Dianzheng; Jiang, Jun

2017-03-01

A syndrome known as pheochromocytomas (PCC)/paragangliomas (PGL) and polycythemia resulted from gain-of-function mutation of hypoxia-inducible factor 2α (HIF2α) has been reported recently. However, clinical features of this syndrome vary from patient to patient. In our study, we described the clinical features of the patient within 15-year follow-up with a literature review. The patient presented with "red face" since childhood and was diagnosed with polycythemia and pheochromocytoma in 2000, and then, tumor was removed at his age of 27 (year 2000). However, 13 years later (2013), he was diagnosed with multiple paragangliomas. Moreover, 2 years later (2015), another two paragangaliomas were also confirmed. Genetic analysis of hereditary PCC/PGL-related genes was conducted. A somatic heterozygous missense mutation of HIF2α (c.1589C>T) was identified at exon 12, which is responsible for the elevated levels of HIF2α and erythropoietin (EPO) and subsequent development of paragangaliomas. However, this mutation was only found in the tumors from three different areas, not in the blood. So far, 13 cases of PCC/PGL with polycythemia have been reported. Among them, somatic mutations of HIF2α at exon 12 are responsible for 12 cases, and only 1 case was caused by germline mutation of HIF2α at exon 9. The HIF2α mutation-induced polycythemia with PCC/PGL is a rare syndrome with no treatment for cure. Comprehensive therapies for this disease include removal of the tumors and intermittent phlebotomies; administration of medications to control blood pressure and to prevent complications or death resulted from high concentration of red blood cell (RBC). Genetic test is strongly recommended for patients with early onset of polycythemia and multiple/recurrent PCC/PGL.

Editorial: Brain Fag Syndrome: New Wine in Old Bottles or Old Wine ...

African Journals Online (AJOL)

Brain Fag Syndrome has been described as a culture bound syndrome associated with mental exertion and study in West Africans. Modern psychiatric and social science literature over the last half century describe the emanation of the term “brain fag” as well as the syndrome in Nigeria. Characterised by somatic, affective, ...

Fibroblast growth factor signaling is required for early somatic gonad development in zebrafish.

Science.gov (United States)

Leerberg, Dena M; Sano, Kaori; Draper, Bruce W

2017-09-01

The vertebrate ovary and testis develop from a sexually indifferent gonad. During early development of the organism, primordial germ cells (the gamete lineage) and somatic gonad cells coalesce and begin to undergo growth and morphogenesis to form this bipotential gonad. Although this aspect of development is requisite for a fertile adult, little is known about the genetic regulation of early gonadogenesis in any vertebrate. Here, we provide evidence that fibroblast growth factor (Fgf) signaling is required for the early growth phase of a vertebrate bipotential gonad. Based on mutational analysis in zebrafish, we show that the Fgf ligand 24 (Fgf24) is required for proliferation, differentiation, and morphogenesis of the early somatic gonad, and as a result, most fgf24 mutants are sterile as adults. Additionally, we describe the ultrastructural elements of the early zebrafish gonad and show that distinct somatic cell populations can be identified soon after the gonad forms. Specifically, we show that fgf24 is expressed in an epithelial population of early somatic gonad cells that surrounds an inner population of mesenchymal somatic gonad cells that are in direct contact with the germ cells, and that fgf24 is required for stratification of the somatic tissue. Furthermore, based on gene expression analysis, we find that differentiation of the inner mesenchymal somatic gonad cells into functional cell types in the larval and early juvenile-stage gonad is dependent on Fgf24 signaling. Finally, we argue that the role of Fgf24 in zebrafish is functionally analogous to the role of tetrapod FGF9 in early gonad development.

Development and validation of an instrument to predict functional recovery in tibial fracture patients: the somatic pre-occupation and coping (SPOC) questionnaire

NARCIS (Netherlands)

Busse, Jason W.; Bhandari, Mohit; Guyatt, Gordon H.; Heels-Ansdell, Diane; Kulkarni, Abhaya V.; Mandel, Scott; Sanders, David; Schemitsch, Emil; Swiontkowski, Mark; Tornetta, Paul; Wai, Eugene; Walter, Stephen D.; Guyatt, Gordon; Sanders, David W.; Schemitsch, Emil H.; Swiontkowski, Marc; Walter, Stephen; Sprague, Sheila; Buckingham, Lisa; Leece, Pamela; Viveiros, Helena; Mignott, Tashay; Ansell, Natalie; Sidorkewicz, Natalie; Agel, Julie; Bombardier, Claire; Berlin, Jesse A.; Bosse, Michael; Browner, Bruce; Gillespie, Brenda; Jones, Alan; O'Brien, Peter; Poolman, Rudolf; Macleod, Mark D.; Carey, Timothy; Leitch, Kellie; Bailey, Stuart; Gurr, Kevin; Bartha, Charlene; Low, Isolina; MacBean, Leila V.; Ramu, Mala; Reiber, Susan; Strapp, Ruth; Goslings, J. Carel; Ponsen, Kees Jan; Luitse, Jan; Kloen, Peter; Joosse, Pieter; Winkelhagen, Jasper

2012-01-01

To explore the role of patients' beliefs in their likelihood of recovery from severe physical trauma. We developed and validated an instrument designed to capture the impact of patients' beliefs on functional recovery from injury: the Somatic Pre-Occupation and Coping (SPOC) questionnaire. At

Dostoevsky and Stendhal's syndrome.

Science.gov (United States)

Amâncio, Edson José

2005-12-01

Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle.

Effects of NPY and the specific Y1 receptor agonist [D-His(26)]-NPY on the deficit in brain reward function and somatic signs associated with nicotine withdrawal in rats.

Science.gov (United States)

Rylkova, Daria; Boissoneault, Jeffrey; Isaac, Shani; Prado, Melissa; Shah, Hina P; Bruijnzeel, Adrie W

2008-06-01

Tobacco addiction is a chronic disorder that is characterized by dysphoria upon smoking cessation and relapse after periods of abstinence. Previous research suggests that Neuropeptide Y (NPY) and Y1 receptor agonists attenuate negative affective states and somatic withdrawal signs. The aim of the present experiments was to investigate the effects of NPY and the specific Y1 receptor agonist [D-His(26)]-NPY on the deficit in brain reward function and somatic signs associated with nicotine withdrawal in rats. The intracranial self-stimulation procedure was used to assess the effects of nicotine withdrawal on brain reward function as this procedure can provide a quantitative measure of emotional states in rodents. Elevations in brain reward thresholds are indicative of a deficit in brain reward function. In the first experiment, NPY did not prevent the elevations in brain reward thresholds associated with precipitated nicotine withdrawal and elevated the brain reward thresholds of the saline-treated control rats. Similar to NPY, [D-His(26)]-NPY did not prevent the elevations in brain reward thresholds associated with precipitated nicotine withdrawal and elevated the brain reward thresholds of the saline-treated control rats. Neither NPY nor [D-His(26)]-NPY affected the response latencies. In a separate experiment, it was demonstrated that the specific Y1 receptor antagonist BIBP-3226 prevented the NPY-induced elevations in brain reward thresholds. NPY attenuated the overall somatic signs associated with precipitated nicotine withdrawal. [D-His(26)]-NPY did not affect the overall somatic signs associated with precipitated nicotine withdrawal, but decreased the number of abdominal constrictions. Both NPY and [D-His(26)]-NPY attenuated the overall somatic signs associated with spontaneous nicotine withdrawal. These findings indicate that NPY and [D-His(26)]-NPY attenuate somatic nicotine withdrawal signs, but do not prevent the deficit in brain reward function associated

Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.

Science.gov (United States)

Kato, Takeshi; Morisada, Naoya; Nagase, Hiroaki; Nishiyama, Masahiro; Toyoshima, Daisaku; Nakagawa, Taku; Maruyama, Azusa; Fu, Xue Jun; Nozu, Kandai; Wada, Hiroko; Takada, Satoshi; Iijima, Kazumoto

2015-10-01

CDKL5-related encephalopathy is an X-linked dominantly inherited disorder that is characterized by early infantile epileptic encephalopathy or atypical Rett syndrome. We describe a 5-year-old Japanese boy with intractable epilepsy, severe developmental delay, and Rett syndrome-like features. Onset was at 2 months, when his electroencephalogram showed sporadic single poly spikes and diffuse irregular poly spikes. We conducted a genetic analysis using an Illumina® TruSight™ One sequencing panel on a next-generation sequencer. We identified two epilepsy-associated single nucleotide variants in our case: CDKL5 p.Ala40Val and KCNQ2 p.Glu515Asp. CDKL5 p.Ala40Val has been previously reported to be responsible for early infantile epileptic encephalopathy. In our case, the CDKL5 heterozygous mutation showed somatic mosaicism because the boy's karyotype was 46,XY. The KCNQ2 variant p.Glu515Asp is known to cause benign familial neonatal seizures-1, and this variant showed paternal inheritance. Although we believe that the somatic mosaic CDKL5 mutation is mainly responsible for the neurological phenotype in the patient, the KCNQ2 variant might have some neurological effect. Genetic analysis by next-generation sequencing is capable of identifying multiple variants in a patient. Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

At the crossroads of fate - somatic cell lineage specification in the fetal gonad

DEFF Research Database (Denmark)

Rotgers, Emmi; Jørgensen, Anne; Yao, Humphrey Hung-Chang

2018-01-01

The reproductive endocrine systems are vastly different between male and female. This sexual dimorphism of endocrine milieu originates from sex-specific differentiation of the somatic cells in the gonads during fetal life. The majority of gonadal somatic cells arise from the adrenogonadal...... of the reproductive tracts. Impairment of lineage specification and function of gonadal somatic cells can lead to disorders of sexual development (DSDs) in humans. Human DSDs and processes for gonadal development have been successfully modelled using genetically modified mouse models. In this review, we focus...

Carpal Tunnel Syndrome in Aberrant Muscle Syndrome: A Case Report and Review of the Literature.

Science.gov (United States)

Steele, Jessica; Coombs, Christopher

2018-06-01

Aberrant Muscle Syndrome (AMS) is a rare congenital hand difference that is characterised by unilateral non-progressive muscular hyperplasia. The aetiology of aberrant muscle syndrome is not known, but a recently published case has shown a somatic PIK3CA activating mutation in a patient with AMS. Carpal tunnel syndrome (CTS) in children is rare. The most common causes are the mucopolysaccaridoses but space-occupying lesions have also been reported to cause CTS in children. We report the first case of CTS in a child with AMS successfully treated with open carpal tunnel release and excision of aberrant muscles.

DNMT1 Maintains Progenitor Function in Self-Renewing Somatic Tissue

OpenAIRE

Sen, George L.; Reuter, Jason A.; Webster, Daniel E.; Zhu, Lilly; Khavari, Paul A.

2010-01-01

Progenitor cells maintain self-renewing tissues throughout life by sustaining their capacity for proliferation while suppressing cell cycle exit and terminal differentiation1,2. DNA methylation3,4,5 provides a potential epigenetic mechanism for the cellular memory needed to preserve the somatic progenitor state through repeated cell divisions. DNA methyltransferase 1 (DNMT1)6,7 maintains DNA methylation patterns after cellular replication. Although dispensable for embryonic stem cell maintena...

Review article: the functional abdominal pain syndrome.

Science.gov (United States)

Sperber, A D; Drossman, D A

2011-03-01

Functional abdominal pain syndrome (FAPS) is a debilitating disorder with constant or nearly constant abdominal pain, present for at least 6 months and loss of daily functioning. To review the epidemiology, pathophysiology and treatment of FAPS. A literature review using the keywords: functional abdominal pain, chronic abdominal pain, irritable bowel syndrome and functional gastrointestinal disorders. No epidemiological studies have focused specifically on FAPS. Estimates of prevalence range from 0.5% to 1.7% and tend to show a female predominance. FAPS pathophysiology appears unique in that the pain is caused primarily by amplified central perception of normal visceral input, rather than by enhanced peripheral stimulation from abdominal viscera. The diagnosis of FAPS is symptom-based in accordance with the Rome III diagnostic criteria. These criteria are geared to identify patients with severe symptoms as they require constant or nearly constant abdominal pain with loss of daily function and are differentiated from IBS based on their non-association with changes in bowel habit, eating or other gut-related events. As cure is not feasible, the aims of treatment are reduced suffering and improved quality of life. Treatment is based on a biopsychosocial approach with a therapeutic patient-physician partnership at its base. Therapeutic options include central nonpharmacological and pharmacological modalities and peripheral modalities. These can be combined to produce an augmentation effect. Although few studies have assessed functional abdominal pain syndrome or its treatment specifically, the treatment strategies outlined in this paper appear to be effective. © 2011 Blackwell Publishing Ltd.

Monitoring Milk Somatic Cell Counts

Directory of Open Access Journals (Sweden)

Gheorghe Şteţca

2014-11-01

Full Text Available The presence of somatic cells in milk is a widely disputed issue in milk production sector. The somatic cell counts in raw milk are a marker for the specific cow diseases such as mastitis or swollen udder. The high level of somatic cells causes physical and chemical changes to milk composition and nutritional value, and as well to milk products. Also, the mastitic milk is not proper for human consumption due to its contribution to spreading of certain diseases and food poisoning. According to these effects, EU Regulations established the maximum threshold of admitted somatic cells in raw milk to 400000 cells / mL starting with 2014. The purpose of this study was carried out in order to examine the raw milk samples provided from small farms, industrial type farms and milk processing units. There are several ways to count somatic cells in milk but the reference accepted method is the microscopic method described by the SR EN ISO 13366-1/2008. Generally samples registered values in accordance with the admissible limit. By periodical monitoring of the somatic cell count, certain technological process issues are being avoided and consumer’s health ensured.

Mediators between bereavement and somatic symptoms

Directory of Open Access Journals (Sweden)

Konkolÿ Thege Barna

2012-06-01

Full Text Available Abstract Background In our research we examined the frequency of somatic symptoms among bereaved (N = 185 and non-bereaved men and women in a national representative sample (N = 4041 and investigated the possible mediating factors between bereavement status and somatic symptoms. Methods Somatic symptoms were measured by the Patient Health Questionnaire (PHQ-15, anxiety with a four-point anxiety rating scale, and depression with a nine-item shortened version of the Beck Depression Inventory. Results Among the bereaved, somatic symptoms proved to be significantly more frequent in both genders when compared to the non-bereaved, as did anxiety and depression. On the multivariate level, the results show that both anxiety and depression proved to be a mediator between somatic symptoms and bereavement. The effect sizes indicated that for both genders, anxiety was a stronger predictor of somatic symptoms than depression. Conclusions The results of our research indicate that somatic symptoms accompanying bereavement are not direct consequences of this state but they can be traced back to the associated anxiety and depression. These results draw attention to the need to recognize anxiety and depression looming in the background of somatic complaints in bereavement and to the importance of the dissemination of related information.

Piwi Is Required to Limit Exhaustion of Aging Somatic Stem Cells

Directory of Open Access Journals (Sweden)

Pedro Sousa-Victor

2017-09-01

Full Text Available Sophisticated mechanisms that preserve genome integrity are critical to ensure the maintenance of regenerative capacity while preventing transformation of somatic stem cells (SCs, yet little is known about mechanisms regulating genome maintenance in these cells. Here, we show that intestinal stem cells (ISCs induce the Argonaute family protein Piwi in response to JAK/STAT signaling during acute proliferative episodes. Piwi function is critical to ensure heterochromatin maintenance, suppress retrotransposon activation, and prevent DNA damage in homeostasis and under regenerative pressure. Accordingly, loss of Piwi results in the loss of actively dividing ISCs and their progenies by apoptosis. We further show that Piwi expression is sufficient to allay age-related retrotransposon expression, DNA damage, apoptosis, and mis-differentiation phenotypes in the ISC lineage, improving epithelial homeostasis. Our data identify a role for Piwi in the regulation of somatic SC function, and they highlight the importance of retrotransposon control in somatic SC maintenance.

Binge-eating disorder in the Swedish national registers: Somatic comorbidity.

Science.gov (United States)

Thornton, Laura M; Watson, Hunna J; Jangmo, Andreas; Welch, Elisabeth; Wiklund, Camilla; von Hausswolff-Juhlin, Yvonne; Norring, Claes; Herman, Barry K; Larsson, Henrik; Bulik, Cynthia M

2017-01-01

To evaluate associations between binge-eating disorder (BED) and somatic illnesses and determine whether medical comorbidities are more common in individuals who present with BED and comorbid obesity. Cases (n = 850) were individuals with a BED diagnosis in the Swedish eating disorders quality registers. Ten community controls were matched to each case on sex, and year, month, and county of birth. Associations of BED status with neurologic, immune, respiratory, gastrointestinal, skin, musculoskeletal, genitourinary, circulatory, and endocrine system diseases were evaluated using conditional logistic regression models. We further examined these associations by adjusting for lifetime psychiatric comorbidity. Amongst individuals with BED, we explored whether comorbid obesity was associated with risk of somatic disorders. BED was associated with most classes of diseases evaluated; strongest associations were with diabetes [odds ratio (95% confidence interval) = 5.7 (3.8; 8.7)] and circulatory systems [1.9 (1.3; 2.7)], likely indexing components of metabolic syndrome. Amongst individuals with BED, those with comorbid obesity were more likely to have a lifetime history of respiratory [1.5 (1.1; 2.1)] and gastrointestinal [2.6 (1.7; 4.1)] diseases than those without comorbid obesity. Increased risk of some somatic disease classes in individuals with BED was not simply due to obesity or other lifetime psychiatric comorbidity. The association of BED with many somatic illnesses highlights the morbidity experienced by individuals with BED. Clinicians treating patients with BED should be vigilant for medical comorbidities. Nonpsychiatric providers may be the first clinical contact for those with BED underscoring the importance of screening in primary care. © 2016 The Authors International Journal of Eating Disorders Published by Wiley Periodicals, Inc. (Int J Eat Disord 2017; 50:58-65). © 2016 The Authors International Journal of Eating Disorders Published by Wiley

Magnetic resonance imaging study of lumbosacral spinal cord nerves before artificial somatic-central nervous system-autonomic reflex pathway establish ment

International Nuclear Information System (INIS)

Deng Xianbo; Kong Xiangquan; Feng Gansheng; Han Ping; Liu Dingxi; Ma Hui

2005-01-01

Objective: To investigate the value of MRI as imaging technique for lumbosacral spinal nerves before artificial somatic-central nervous system-autonomic reflex pathway establish ment. Methods: Conventional MRI and T 2 W CISS 3D were performed in 10 patients with neurogenic bladder planned for the operation of artificial somatic-central nervous system-autonomic reflex pathway. The Three-dimensional data were then constructed into composite images using a standard multiple planar reformation (MPR). Results: Five patients showed tethered spinal cord syndrome, whose spinal cord nerves were circuitous distributed and had abnormity number when penetrated the dura. Of these 5 patients, one patient was accompanied by spinal cord vas malformation. Four patients had vertebral fracture and spinal injury, and the other one patients demonstrated tumor in vertebral canal on MRI examinations. The spinal cord nerves in these 5 patients floated down river and had normal number of spinal cord nerves. Conclusion: Conventional MRI and T 2 W CISS 3D MRI were essential for the pre-operative planning of artificial somatic-central nervous system-autonomic reflex pathway, especially in patients with tethered spinal cord syndrome. Spinal cord nerves distribute and anterior and posterior roots array can be clearly showed by MPR. (authors)

Somatic and movement inductions phantom limb in non-amputees

Science.gov (United States)

Casas, D. M.; Gentiletti, G. G.; Braidot, A. A.

2016-04-01

The illusion of the mirror box is a tool for phantom limb pain treatment; this article proposes the induction of phantom limb syndrome on non-amputees upper limb, with a neurological trick of the mirror box. With two study situations: a) Somatic Induction is a test of the literature reports qualitatively, and novel proposal b) Motor Induction, which is an objective report by recording surface EEG. There are 3 cases proposed for Motor illusion, for which grasped movement is used: 1) Control: movement is made, 2) illusion: the mirror box is used, and 3) Imagination: no movement is executed; the subject only imagines its execution. Three different tasks are registered for each one of them (left hand, right hand, and both of them). In 64% of the subjects for somatic experience, a clear response to the illusion was observed. In the experience of motor illusion, cortical activation is detected in both hemispheres of the primary motor cortex during the illusion, where the hidden hand remains motionless. These preliminary findings in phantom limb on non-amputees can be a tool for neuro-rehabilitation and neuro-prosthesis control training.

Somatic Symptoms in Traumatized Children and Adolescents

Science.gov (United States)

Kugler, Brittany B.; Bloom, Marlene; Kaercher, Lauren B.; Truax, Tatyana V.; Storch, Eric A.

2012-01-01

Childhood exposure to trauma has been associated with increased rates of somatic symptoms (SS), which may contribute to diminished daily functioning. One hundred and sixty-one children residing at a residential treatment home who had experienced neglect and/or abuse were administered the Trauma Symptom Checklist for Children (TSCC), the…

Multiple somatic symptoms in primary care

DEFF Research Database (Denmark)

Goldberg, D. P.; Reed, G. M.; Robles, R.

2016-01-01

Objective A World Health Organization (WHO) field study conducted in five countries assessed proposals for Bodily Stress Syndrome (BSS) and Health Anxiety (HA) for the Primary Health Care Version of ICD-11. BSS requires multiple somatic symptoms not caused by known physical pathology and associated...... with distress or dysfunction. HA involves persistent, intrusive fears of having an illness or intense preoccupation with and misinterpretation of bodily sensations. This study examined how the proposed descriptions for BSS and HA corresponded to what was observed by working primary care physicians (PCPs......) in participating countries, and the relationship of BSS and HA to depressive and anxiety disorders and to disability. Method PCPs referred patients judged to have BSS or HA, who were then interviewed using a standardized psychiatric interview and a standardized measure of disability. Results Of 587 patients...

Osteoporosis and Somatization of Anxiety

Directory of Open Access Journals (Sweden)

Maria Papanikou

2013-12-01

Full Text Available Chronic stress can now be physiologically traced as a significant player in the creation of osteoporotic bones. The present pilot study involved 100 women (N = 42 have been diagnosed with osteopenia, N = 21 have been diagnosed with osteoporosis, N = 37 had a non-osteoporotic condition who participated in the Hellenic Society of Osteoporosis Association Support. Correlations between somatic symptoms of anxiety and osteoporosis, and among medications and somatization in women were explored. Assessments were based on a self-report demographic questionnaire and on the Short Anxiety Screening Test (SAST administered for detection of anxiety disorder and somatization. Statistical analysis detected non-significant differences regarding the correlation between anxiety symptomatology or somatization due to osteoporosis and osteopenia diagnosis. The same pattern is observed among women’s age group, the occupational and marital status. Hypothesis that the osteoporosis and osteopenia group would manifest significant relationships with the age group and medicines was confirmed, as well as between somatization and medicines that women with osteoporosis and osteopenia undertake. The results suggest that women are not prone to manifest anxiety or somatization in relation to the osteoporosis condition. However, the majority of women with osteoporosis and osteopenia consume more than two medicines other than those for osteoporosis. This quantity and combination they undertake appear to contribute and deteriorate their anxiety/somatization symptomatology. Further research based on a larger sample would give more definite results.

A 3.7 Mb Deletion Encompassing ZEB2 Causes a Novel Polled and Multisystemic Syndrome in the Progeny of a Somatic Mosaic Bull

Science.gov (United States)

Capitan, Aurélien; Allais-Bonnet, Aurélie; Pinton, Alain; Marquant-Le Guienne, Brigitte; Le Bourhis, Daniel; Grohs, Cécile; Bouet, Stéphan; Clément, Laëtitia; Salas-Cortes, Laura; Venot, Eric; Chaffaux, Stéphane; Weiss, Bernard; Delpeuch, Arnaud; Noé, Guy; Rossignol, Marie-Noëlle; Barbey, Sarah; Dozias, Dominique; Cobo, Emilie; Barasc, Harmonie; Auguste, Aurélie; Pannetier, Maëlle; Deloche, Marie-Christine; Lhuilier, Emeline; Bouchez, Olivier; Esquerré, Diane; Salin, Gérald; Klopp, Christophe; Donnadieu, Cécile; Chantry-Darmon, Céline; Hayes, Hélène; Gallard, Yves; Ponsart, Claire; Boichard, Didier; Pailhoux, Eric

2012-01-01

Polled and Multisystemic Syndrome (PMS) is a novel developmental disorder occurring in the progeny of a single bull. Its clinical spectrum includes polledness (complete agenesis of horns), facial dysmorphism, growth delay, chronic diarrhea, premature ovarian failure, and variable neurological and cardiac anomalies. PMS is also characterized by a deviation of the sex-ratio, suggesting male lethality during pregnancy. Using Mendelian error mapping and whole-genome sequencing, we identified a 3.7 Mb deletion on the paternal bovine chromosome 2 encompassing ARHGAP15, GTDC1 and ZEB2 genes. We then produced control and affected 90-day old fetuses to characterize this syndrome by histological and expression analyses. Compared to wild type individuals, affected animals showed a decreased expression of the three deleted genes. Based on a comparison with human Mowat-Wilson syndrome, we suggest that deletion of ZEB2, is responsible for most of the effects of the mutation. Finally sperm-FISH, embryo genotyping and analysis of reproduction records confirmed somatic mosaicism in the founder bull and male-specific lethality during the first third of gestation. In conclusion, we identified a novel locus involved in bovid horn ontogenesis and suggest that epithelial-to-mesenchymal transition plays a critical role in horn bud differentiation. We also provide new insights into the pathogenicity of ZEB2 loss of heterozygosity in bovine and humans and describe the first case of male-specific lethality associated with an autosomal locus in a non-murine mammalian species. This result sets PMS as a unique model to study sex-specific gene expression/regulation. PMID:23152852

Hemoglobin promotes somatic embryogenesis in peanut cultures.

Science.gov (United States)

Jayabalan, N; Anthony, P; Davey, M R; Power, J B; Lowe, K C

2004-02-01

Critical parameters influencing somatic embryogenesis include growth regulators and oxygen supply. Consequently, the present investigation has focused on optimization of a somatic embryogenic system for peanut (Arachis hypogaea L.) through media supplementation with the auxin, picloram. The latter at 30 mg L(-1) was optimal for inducing regeneration of somatic embryos from cultured explants of zygotic embryos. In contrast, somatic embryogenesis did not occur in the absence of this growth regulator. An assessment has also been made of the beneficial effect on somatic embryogenesis and plant regeneration of the commercial hemoglobin (Hb) solution, Erythrogen. Hemoglobin at 1:50 and 1:100 (v:v) stimulated increases in mean fresh weight (up to a maximum of 57% over control), mean number of explants producing somatic embryos (15%) and mean number of somatic embryos per explant (29%).

Family based treatment for children with functional somatic symptoms: A systematic literature review

DEFF Research Database (Denmark)

Hulgaard, Ditte Roth; Dehlholm-Lambertsen, Birgitte; Rask, Charlotte

2015-01-01

Background: Young patients with Functional Somatic Symptoms (FSS) are common and may present in all clinical settings. Clinical presentation varies from self–limiting to severe and disabling symptoms with impairment in several domains of daily life. In daily clinical practice there is no consensus...... on which treatment to offer children and adolescents with FSS. Research in adults shows that different FSS respond to the same kind of treatment, with the effect of cognitive behavioural therapy being well established. In the understanding of mental health issues in children, it is well established...... is broadly defined and encompasses a wide range of interventions. Aims: As part of a PhD study on family based treatment for children with FSS a systematic review of the literature will be performed in which the type and characteristics of existing family based psychological interventions for children...

The somatic symptom scale-8 (SSS-8): a brief measure of somatic symptom burden.

Science.gov (United States)

Gierk, Benjamin; Kohlmann, Sebastian; Kroenke, Kurt; Spangenberg, Lena; Zenger, Markus; Brähler, Elmar; Löwe, Bernd

2014-03-01

Somatic symptoms are the core features of many medical diseases, and they are used to evaluate the severity and course of illness. The 8-item Somatic Symptom Scale (SSS-8) was recently developed as a brief, patient-reported outcome measure of somatic symptom burden, but its reliability, validity, and usefulness have not yet been tested. To investigate the reliability, validity, and severity categories as well as the reference scores of the SSS-8. A national, representative general-population survey was performed between June 15, 2012, and July 15, 2012, in Germany, including 2510 individuals older than 13 years. The SSS-8 mean (SD), item-total correlations, Cronbach α, factor structure, associations with measures of construct validity (Patient Health Questionnaire-2 depression scale, Generalized Anxiety Disorder-2 scale, visual analog scale for general health status, 12-month health care use), severity categories, and percentile rank reference scores. The SSS-8 had excellent item characteristics and good reliability (Cronbach α = 0.81). The factor structure reflects gastrointestinal, pain, fatigue, and cardiopulmonary aspects of the general somatic symptom burden. Somatic symptom burden as measured by the SSS-8 was significantly associated with depression (r = 0.57 [95% CI, 0.54 to 0.60]), anxiety (r = 0.55 [95% CI, 0.52 to 0.58]), general health status (r = -0.24 [95% CI, -0.28 to -0.20]), and health care use (incidence rate ratio, 1.12 [95% CI, 1.10 to 1.14]). The SSS-8 severity categories were calculated in accordance with percentile ranks: no to minimal (0-3 points), low (4-7 points), medium (8-11 points), high (12-15 points), and very high (16-32 points) somatic symptom burden. For every SSS-8 severity category increase, there was a 53% (95% CI, 44% to 63%) increase in health care visits. The SSS-8 is a reliable and valid self-report measure of somatic symptom burden. Cutoff scores identify individuals with low, medium, high, and very high somatic

Reye's syndrome: salicylate and mitochondrial monoamine oxidase function

International Nuclear Information System (INIS)

Faraj, B.A.; Caplan, D.; Lolies, P.

1986-01-01

It has been suggested that aspirin is somehow linked with the onset of Reye's syndrome (RS). A general feature of Reye's syndrome is severe impairment of mitochondrial monoamine oxidase (MAO) function. The main objective of this investigation was to study the effect of salicylate on platelet mitochondrial MAO activity in three groups: group A (healthy children, n = 21) and group C (healthy adults, n = 10). Platelet MAO was measured by radio-enzymatic technique with 14 C-tyramine as a substrate. The results showed that salicyclate (10 mM) had a 20 to 60 percent inhibitory effect on platelet MAO function in only 1, 3 and 2 of the subjects in group A, B and C. Furthermore, there was an association between low enzyme activity and salicylate MAO inhibitory effect in these subjects. These preliminary findings suggest that salicylate may induce deterioration in mitochondrial function in susceptible individuals and that the assessment of salicylate MAO inhibitory effect may identify those who may be at risk to develop aspirin poisoning and Reye's syndrome

Functional Abdominal Pain: "Get" the Function, Loose the Pain.

Science.gov (United States)

Draeger-Muenke, Reinhild

2015-07-01

Functional abdominal pain is a mind-body, psychosocial, and self-reinforcing experience with significant consequences for the sufferer and the surrounding support network. The occurrence of unpredictable symptoms and their severity add an element of dread and feeling out-of-control to daily life and often reduce overall functioning in a downward spiral. Two clinical presentations of functional abdominal pain are offered in this article (composites to protect confidentiality) dealing with abdominal pain syndrome and abdominal migraines. The treatment demonstrates the use of hypnotic principles for self-regulation, exploration, and meaning-making. Hypnosis treatment is conducted in combination with mindfulness-based interventions and Traditional Chinese Medicine's (TCM) teachings regarding abdominal health and illness. The clinical examples illustrate medical findings that suggest children with early life stress and an early onset of gastrointestinal somatization may not simply outgrow their functional abdominal pain but may suffer into adulthood.

A four-year follow-up study in fibromyalgia. Relationship to chronic fatigue syndrome

DEFF Research Database (Denmark)

Nørregaard, J; Bülow, P M; Prescott, E

1993-01-01

the overlap between fibromyalgia and chronic fatigue syndrome. Only in two of 91 the muscle pain was found to be caused by another somatic disease during the median 4 year follow-up period. In one of the 83 attending subjects a somatic disease associated with muscle symptoms was established at the follow......-up visit. 60 out of 83 reported increased pain, 8 reported improvement of pain. The 83 subjects showed no significant fall in muscle strength during the follow-up period. The majority reported severe fatigue but only one fifth fulfilled the proposed chronic fatigue syndrome criteria....

Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data.

Science.gov (United States)

Krøigård, Anne Bruun; Thomassen, Mads; Lænkholm, Anne-Vibeke; Kruse, Torben A; Larsen, Martin Jakob

2016-01-01

Next generation sequencing is extensively applied to catalogue somatic mutations in cancer, in research settings and increasingly in clinical settings for molecular diagnostics, guiding therapy decisions. Somatic variant callers perform paired comparisons of sequencing data from cancer tissue and matched normal tissue in order to detect somatic mutations. The advent of many new somatic variant callers creates a need for comparison and validation of the tools, as no de facto standard for detection of somatic mutations exists and only limited comparisons have been reported. We have performed a comprehensive evaluation using exome sequencing and targeted deep sequencing data of paired tumor-normal samples from five breast cancer patients to evaluate the performance of nine publicly available somatic variant callers: EBCall, Mutect, Seurat, Shimmer, Indelocator, Somatic Sniper, Strelka, VarScan 2 and Virmid for the detection of single nucleotide mutations and small deletions and insertions. We report a large variation in the number of calls from the nine somatic variant callers on the same sequencing data and highly variable agreement. Sequencing depth had markedly diverse impact on individual callers, as for some callers, increased sequencing depth highly improved sensitivity. For SNV calling, we report EBCall, Mutect, Virmid and Strelka to be the most reliable somatic variant callers for both exome sequencing and targeted deep sequencing. For indel calling, EBCall is superior due to high sensitivity and robustness to changes in sequencing depths.

Life Course Pathways of Adversities Linking Adolescent Socioeconomic Circumstances and Functional Somatic Symptoms in Mid-Adulthood: A Path Analysis Study.

Directory of Open Access Journals (Sweden)

Frida Jonsson

Full Text Available While research examining the health impact of early socioeconomic conditions suggests that effects may exist independently of or jointly with adult socioeconomic position, studies exploring other potential pathways are few. Following a chain of risk life course model, this prospective study seeks to examine whether pathways of occupational class as well as material and social adversities across the life course link socioeconomic disadvantage in adolescent to functional somatic symptoms in mid-adulthood. Applying path analysis, a multiple mediator model was assessed using prospective data collected during 26 years through the Northern Swedish Cohort. The sample contained 987 individuals residing in the municipality of Luleå, Sweden, who participated in questionnaire surveys at age 16, 21, 30 and 42. Socioeconomic conditions (high/low in adolescence (age 16 were operationalized using the occupation of the parents, while occupational class in adulthood (manual/non-manual was measured using the participant's own occupation at age 21 and 30. The adversity measurements were constructed as separate age specific parcels at age 21 and 30. Social adversity included items pertaining to stressful life events that could potentially harm salient relationships, while material adversity was operationalized using items concerning unfavorable financial and material circumstances. Functional somatic symptoms at age 42 was a summary measure of self-reported physical symptoms, palpitation and sleeping difficulties that had occurred during the last 12 months. An association between socioeconomic conditions at age 16 and functional somatic symptoms at age 42 (r = 0.068 which was partially explained by people's own occupational class at age 21 and then material as well as social adversity at age 30 was revealed. Rather than proposing a direct and independent health effect of the socioeconomic conditions of the family, the present study suggests that growing up in an

Premature aging of cardiovascular/platelet function in polycystic ovarian syndrome.

Science.gov (United States)

Chan, Wai Ping A; Ngo, Doan T; Sverdlov, Aaron L; Rajendran, Sharmalar; Stafford, Irene; Heresztyn, Tamila; Chirkov, Yuliy Y; Horowitz, John D

2013-07-01

The objective of this study was to compare the impact of aging on nitric oxide (NO) modulation of platelet and vascular function in healthy women and women with polycystic ovary syndrome. A case-control study of women ages 18 to 60 years, comparing women with polycystic ovarian syndrome against age-matched healthy controls, was performed. A total of 242 women, of whom 109 had polycystic ovarian syndrome (based on Rotterdam criteria), participated in the study. Women who were pregnant or on clopidogrel were excluded from the study. Inhibition of platelet aggregation by nitric oxide (primary outcome measure), vascular endothelial function, plasma concentrations of N(G), N(G)-dimethyl-L-arginine (ADMA), endothelial progenitor cell count, and high-sensitivity C-reactive protein (markers of endothelial dysfunction and inflammation) were assessed. With increasing age in control women, there was progressive attenuation of platelet responses to NO, impairment of endothelial function, and elevation of ADMA levels (P ≤.001). Irrespective of age, women with polycystic ovarian syndrome exhibited greater impairment of all these parameters (all P polycystic ovarian syndrome, these changes are present from early adult life and may contribute to premature atherogenesis. Copyright © 2013 Elsevier Inc. All rights reserved.

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

NARCIS (Netherlands)

Lindhurst, Marjorie J.; Sapp, Julie C.; Teer, Jamie K.; Johnston, Jennifer J.; Finn, Erin M.; Peters, Kathryn; Turner, Joyce; Cannons, Jennifer L.; Bick, David; Blakemore, Laurel; Blumhorst, Catherine; Brockmann, Knut; Calder, Peter; Cherman, Natasha; Deardorff, Matthew A.; Everman, David B.; Golas, Gretchen; Greenstein, Robert M.; Kato, B. Maya; Keppler-Noreuil, Kim M.; Kuznetsov, Sergei A.; Miyamoto, Richard T.; Newman, Kurt; Ng, David; O'Brien, Kevin; Rothenberg, Steven; Schwartzentruber, Douglas J.; Singhal, Virender; Tirabosco, Roberto; Upton, Joseph; Wientroub, Shlomo; Zackai, Elaine H.; Hoag, Kimberly; Whitewood-Neal, Tracey; Robey, Pamela G.; Schwartzberg, Pamela L.; Darling, Thomas N.; Tosi, Laura L.; Mullikin, James C.; Biesecker, Leslie G.

2011-01-01

BACKGROUND The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state. METHODS We performed exome sequencing of DNA from

[Peripheral, central and functional vertigo syndromes].

Science.gov (United States)

Strupp, M; Dieterich, M; Zwergal, A; Brandt, T

2015-12-01

Depending on the temporal course, three forms of vertigo syndrome can be differentiated: 1) vertigo attacks, e.g. benign paroxysmal positional vertigo (BPPV), Menière's disease and vestibular migraine, 2) acute spontaneous vertigo lasting for days, e.g. acute unilateral vestibulopathy, brainstem or cerebellar infarction and 3) symptoms lasting for months or years, e.g. bilateral vestibulopathy and functional vertigo. The specific therapy of the various syndromes is based on three principles: 1) physical treatment with liberatory maneuvers for BPPV and balance training for vestibular deficits, 2) pharmacotherapy, e.g. for acute unilateral vestibulopathy (corticosteroids) and Menière's disease (transtympanic administration of gentamicin or steroids and high-dose betahistine therapy); placebo-controlled pharmacotherapy studies are currently being carried out for acute unilateral vestibulopathy, vestibular paroxysmia, prophylaxis of BPPV, vestibular migraine, episodic ataxia type 2 and cerebellar ataxia; 3) psychotherapy for functional dizziness.

β-cell function is associated with metabolic syndrome in Mexican subjects

OpenAIRE

Baez-Duarte, Blanca G; Sánchez-Guillén, María Del Carmen; Pérez-Fuentes, Ricardo; Zamora-Ginez, Irma; Leon-Chavez, Bertha Alicia; Revilla-Monsalve, Cristina; Islas-Andrade, Sergio

2010-01-01

Aims The clinical diagnosis of metabolic syndrome does not find any parameters to evaluate the insulin sensitivity (IS) or β-cell function. The evaluation of these parameters would detect early risk of developing metabolic syndrome. The aim of this study is to determine the relationship between β-cell function and presence of metabolic syndrome in Mexican subjects. Material and methods This study is part of the Mexican Survey on the Prevention of Diabetes (MexDiab Study) with headquarters in ...

Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data.

Directory of Open Access Journals (Sweden)

Anne Bruun Krøigård

Full Text Available Next generation sequencing is extensively applied to catalogue somatic mutations in cancer, in research settings and increasingly in clinical settings for molecular diagnostics, guiding therapy decisions. Somatic variant callers perform paired comparisons of sequencing data from cancer tissue and matched normal tissue in order to detect somatic mutations. The advent of many new somatic variant callers creates a need for comparison and validation of the tools, as no de facto standard for detection of somatic mutations exists and only limited comparisons have been reported. We have performed a comprehensive evaluation using exome sequencing and targeted deep sequencing data of paired tumor-normal samples from five breast cancer patients to evaluate the performance of nine publicly available somatic variant callers: EBCall, Mutect, Seurat, Shimmer, Indelocator, Somatic Sniper, Strelka, VarScan 2 and Virmid for the detection of single nucleotide mutations and small deletions and insertions. We report a large variation in the number of calls from the nine somatic variant callers on the same sequencing data and highly variable agreement. Sequencing depth had markedly diverse impact on individual callers, as for some callers, increased sequencing depth highly improved sensitivity. For SNV calling, we report EBCall, Mutect, Virmid and Strelka to be the most reliable somatic variant callers for both exome sequencing and targeted deep sequencing. For indel calling, EBCall is superior due to high sensitivity and robustness to changes in sequencing depths.

Executive Function and Adaptive Behavior in Muenke Syndrome.

Science.gov (United States)

Yarnell, Colin M P; Addissie, Yonit A; Hadley, Donald W; Guillen Sacoto, Maria J; Agochukwu, Nneamaka B; Hart, Rachel A; Wiggs, Edythe A; Platte, Petra; Paelecke, Yvonne; Collmann, Hartmut; Schweitzer, Tilmann; Kruszka, Paul; Muenke, Maximilian

2015-08-01

To investigate executive function and adaptive behavior in individuals with Muenke syndrome using validated instruments with a normative population and unaffected siblings as controls. Participants in this cross-sectional study included individuals with Muenke syndrome (P250R mutation in FGFR3) and their mutation-negative siblings. Participants completed validated assessments of executive functioning (Behavior Rating Inventory of Executive Function [BRIEF]) and adaptive behavior skills (Adaptive Behavior Assessment System, Second Edition [ABAS-II]). Forty-four with a positive FGFR3 mutation, median age 9 years, range 7 months to 52 years were enrolled. In addition, 10 unaffected siblings served as controls (5 males, 5 females; median age, 13 years; range, 3-18 years). For the General Executive Composite scale of the BRIEF, 32.1% of the cohort had scores greater than +1.5 SD, signifying potential clinical significance. For the General Adaptive Composite of the ABAS-II, 28.2% of affected individuals scored in the 3rd-8th percentile of the normative population, and 56.4% were below the average category (General Executive Composite and the ABAS-II General Adaptive Composite. Individuals with Muenke syndrome are at an increased risk for developing adaptive and executive function behavioral changes compared with a normative population and unaffected siblings. Published by Elsevier Inc.

Relationship of functional gastrointestinal disorders and psychiatric disorders: Implications for treatment

Science.gov (United States)

North, Carol S; Hong, Barry A; Alpers, David H

2007-01-01

This article revisits the links between psychopathology and functional gastrointestinal disorders such as irritable bowel syndrome (IBS), discusses the rational use of antidepressants as well as non-pharmacological approaches to the management of IBS, and suggests guidelines for the treatment of IBS based on an interdisciplinary perspective from the present state of knowledge. Relevant published literature on psychiatric disorders, especially somatization disorder, in the context of IBS, and literature providing direction for management is reviewed, and new directions are provided from findings in the literature. IBS is a heterogeneous syndrome with various potential mechanisms responsible for its clinical presentations. IBS is typically complicated with psychiatric issues, unexplained symptoms, and functional syndromes in other organ systems. Most IBS patients have multiple complaints without demonstrated cause, and that these symptoms can involve systems other than the intestine, e.g. bones and joints (fibromyalgia, temporomandibular joint syndrome), heart (non-cardiac chest pain), vascular (post-menopausal syndrome), and brain (anxiety, depression). Most IBS patients do not have psychiatric illness per se, but a range of psychoform (psychological complaints in the absence of psychiatric disorder) symptoms that accompany their somatoform (physical symptoms in the absence of medical disorder) complaints. It is not correct to label IBS patients as psychiatric patients (except those more difficult patients with true somatization disorder). One mode of treatment is unlikely to be universally effective or to resolve most symptoms. The techniques of psychotherapy or cognitive-behavioral therapy can allow IBS patients to cope more readily with their illness. Specific episodes of depressive or anxiety disorders can be managed as appropriate for those conditions. Medications designed to improve anxiety or depression are not uniformly useful for psychiatric complaints in

Relationship of functional gastrointestinal disorders and psychiatric disorders: Implications for treatment

Institute of Scientific and Technical Information of China (English)

Carol S North; Barry A Hong; David H Alpers

2007-01-01

This article revisits the links between psychopathology and functional gastrointestinal disorders such as irritable bowel syndrome (IBS), discusses the rational use of antidepressants as well as non-pharmacological approaches to the management of IBS, and suggests guidelines for the treatment of IBS based on an interdisciplinary perspective from the present state of knowledge. Relevant published literature on psychiatric disorders, especially somatization disorder, in the context of IBS, and literature providing direction for management is reviewed, and new directions are provided from findings in the literature. IBS is a heterogeneous syndrome with various potential mechanisms responsible for its clinical presentations. IBS is typically complicated with psychiatric issues, unexplained symptoms, and functional syndromes in other organ systems. Most IBS patients have multiple complaints without demonstrated cause, and that these symptoms can involve systems other than the intestine, e.g. Bones and joints (fibromyalgia, temporomandibular joint syndrome), heart (non-cardiac chest pain), vascular (post-menopausal syndrome), and brain (anxiety, depression). Most IBS patients do not have psychiatric illness per se, but a range of psychoform (psychological complaints in the absence of psychiatric disorder) symptoms that accompany their somatoform (physical symptoms in the absence of medical disorder) complaints. It is not correct to label IBS patients as psychiatric patients (except those more difficult patients with true somatization disorder).One mode of treatment is unlikely to be universally effective or to resolve most symptoms. The techniques of psychotherapy or cognitive-behavioral therapy can allow IBS patients to cope more readily with their illness.Specific episodes of depressive or anxiety disorders can be managed as appropriate for those conditions.Medications designed to improve anxiety or depression are not uniformly useful for psychiatric complaints in IBS

NF-κB activation impairs somatic cell reprogramming in ageing.

Science.gov (United States)

Soria-Valles, Clara; Osorio, Fernando G; Gutiérrez-Fernández, Ana; De Los Angeles, Alejandro; Bueno, Clara; Menéndez, Pablo; Martín-Subero, José I; Daley, George Q; Freije, José M P; López-Otín, Carlos

2015-08-01

Ageing constitutes a critical impediment to somatic cell reprogramming. We have explored the regulatory mechanisms that constitute age-associated barriers, through derivation of induced pluripotent stem cells (iPSCs) from individuals with premature or physiological ageing. We demonstrate that NF-κB activation blocks the generation of iPSCs in ageing. We also show that NF-κB repression occurs during cell reprogramming towards a pluripotent state. Conversely, ageing-associated NF-κB hyperactivation impairs the generation of iPSCs by eliciting the reprogramming repressor DOT1L, which reinforces senescence signals and downregulates pluripotency genes. Genetic and pharmacological NF-κB inhibitory strategies significantly increase the reprogramming efficiency of fibroblasts from Néstor-Guillermo progeria syndrome and Hutchinson-Gilford progeria syndrome patients, as well as from normal aged donors. Finally, we demonstrate that DOT1L inhibition in vivo extends lifespan and ameliorates the accelerated ageing phenotype of progeroid mice, supporting the interest of studying age-associated molecular impairments to identify targets of rejuvenation strategies.

DSM-IV-TR “Pain Disorder Associated with Psychological Factors” as a Nonhysterical Form of Somatization

Directory of Open Access Journals (Sweden)

Massimiliano Aragona

2008-01-01

Full Text Available BACKGROUND: Elevated Minnesota Multiphasic Personality Inventory (MMPI scores on the hysteria (Hy scale are reported in several forms of pain. Previous results were possibly biased by diagnostic heterogeneity (psychogenic, somatic and mixed pain syndromes included in the same index sample or Hy heterogeneity (failure to differentiate Hy scores into clinically meaningful sub-scales, such as admission of symptoms [Ad] and denial of symptoms [Dn].

Hypochondriasis and somatization in college women: a personal projects analysis.

Science.gov (United States)

Karoly, P; Lecci, L

1993-03-01

Although the descriptive features of hypochondriasis and somatization have been widely studied, the motivational correlates (goal representations) of individuals manifesting abnormal illness patterns have not been considered. The Personal Projects Analysis method (Little, 1983) was used to contrast the health and nonhealth goals of female undergraduates. Subjects selected 10 goals for evaluation along a series of dimensions. When health pursuits alone were examined, hypochondriasis on the Minnesota Multiphasic Personality Inventory was found to correlate directly with goal appraisal dimensions subsumed by an anxiety-absorption factor and inversely with dimensions characterizing rewardingness, thus suggesting a negativity of health goal construal. Somatizers also pursued more health-related projects than did nonsomatizers; nonhealth goal cognition did not relate as strongly to hypochondriasis. Finally, using discriminant function analysis, goal representations were shown to significantly and substantially differentiate somatizers from nonsomatizers.

Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

OpenAIRE

Tahir M. Malla; Arshad A. Pandith; Fayaz A. Dar; Mahrukh H. Zargar

2016-01-01

There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister) chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conve...

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Science.gov (United States)

Aoki, Yoko; Niihori, Tetsuya; Banjo, Toshihiro; Okamoto, Nobuhiko; Mizuno, Seiji; Kurosawa, Kenji; Ogata, Tsutomu; Takada, Fumio; Yano, Michihiro; Ando, Toru; Hoshika, Tadataka; Barnett, Christopher; Ohashi, Hirofumi; Kawame, Hiroshi; Hasegawa, Tomonobu; Okutani, Takahiro; Nagashima, Tatsuo; Hasegawa, Satoshi; Funayama, Ryo; Nagashima, Takeshi; Nakayama, Keiko; Inoue, Shin-Ichi; Watanabe, Yusuke; Ogura, Toshihiko; Matsubara, Yoichi

2013-07-11

RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival, and differentiation. Recent studies have revealed that germline mutations and mosaicism for classical RAS mutations, including those in HRAS, KRAS, and NRAS, cause a wide spectrum of genetic disorders. These include Noonan syndrome and related disorders (RAS/mitogen-activated protein kinase [RAS/MAPK] pathway syndromes, or RASopathies), nevus sebaceous, and Schimmelpenning syndrome. In the present study, we identified a total of nine missense, nonsynonymous mutations in RIT1, encoding a member of the RAS subfamily, in 17 of 180 individuals (9%) with Noonan syndrome or a related condition but with no detectable mutations in known Noonan-related genes. Clinical manifestations in the RIT1-mutation-positive individuals are consistent with those of Noonan syndrome, which is characterized by distinctive facial features, short stature, and congenital heart defects. Seventy percent of mutation-positive individuals presented with hypertrophic cardiomyopathy; this frequency is high relative to the overall 20% incidence in individuals with Noonan syndrome. Luciferase assays in NIH 3T3 cells showed that five RIT1 alterations identified in children with Noonan syndrome enhanced ELK1 transactivation. The introduction of mRNAs of mutant RIT1 into 1-cell-stage zebrafish embryos was found to result in a significant increase of embryos with craniofacial abnormalities, incomplete looping, a hypoplastic chamber in the heart, and an elongated yolk sac. These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis

NARCIS (Netherlands)

Maliepaard, M.; Mathijssen, I.M.J.; Oosterlaan, J.; Okkerse, J.M.E.

2014-01-01

OBJECTIVES: To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. METHODS: A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual,

Extending a structural model of somatization to South Koreans: Cultural values, somatization tendency, and the presentation of depressive symptoms.

Science.gov (United States)

Zhou, Xiaolu; Min, Seongho; Sun, Jiahong; Kim, Se Joo; Ahn, Joung-Sook; Peng, Yunshi; Noh, Samuel; Ryder, Andrew G

2015-05-01

Somatization refers to the tendency to emphasize somatic symptoms when experiencing a psychiatric disturbance. This tendency has been widely reported in patients from East Asian cultural contexts suffering from depression. Recent research in two Chinese samples have demonstrated that the local cultural script for depression, involving two aspects-the experience and expression of distress (EED) and conceptualization and communication of distress (CCD)-can be evoked to help explain somatization. Given the beliefs and practices broadly shared across Chinese and South Korean cultural contexts, the current study seeks to replicate this explanatory model in South Koreans. Our sample included 209 psychiatric outpatients from Seoul and Wonju, South Korea. Self-report questionnaires were used to assess somatization tendency, adherence to traditional values, and psychological and somatic symptoms of depression. Results from SEM showed that the EED and CCD factors of somatization tendency were differently associated with cultural values and somatic symptoms, replicating our previous findings in Chinese outpatients. The reliance on a brief self-report measure of somatization tendency, not originally designed to assess separate EED and CCD factors, highlights the need for measurement tools for the assessment of cultural scripts in cross-cultural depression research. The replication of the Chinese structural model of somatization in South Korea lends empirical support to the view that somatization can be understood as the consequence of specific cultural scripts. These scripts involve the experience and expression of distress as well as culturally meaningful ways in which this distress is conceptualized and communicated to others. Copyright © 2015 Elsevier B.V. All rights reserved.

Anomalous brain functional connectivity contributing to poor adaptive behavior in Down syndrome.

Science.gov (United States)

Pujol, Jesus; del Hoyo, Laura; Blanco-Hinojo, Laura; de Sola, Susana; Macià, Dídac; Martínez-Vilavella, Gerard; Amor, Marta; Deus, Joan; Rodríguez, Joan; Farré, Magí; Dierssen, Mara; de la Torre, Rafael

2015-03-01

Research in Down syndrome has substantially progressed in the understanding of the effect of gene overexpression at the molecular level, but there is a paucity of information on the ultimate consequences on overall brain functional organization. We have assessed the brain functional status in Down syndrome using functional connectivity MRI. Resting-state whole-brain connectivity degree maps were generated in 20 Down syndrome individuals and 20 control subjects to identify sites showing anomalous synchrony with other areas. A subsequent region-of-interest mapping served to detail the anomalies and to assess their potential contribution to poor adaptive behavior. Down syndrome individuals showed higher regional connectivity in a ventral brain system involving the amygdala/anterior temporal region and the ventral aspect of both the anterior cingulate and frontal cortices. By contrast, lower functional connectivity was identified in dorsal executive networks involving dorsal prefrontal and anterior cingulate cortices and posterior insula. Both functional connectivity increases and decreases contributed to account for patient scoring on adaptive behavior related to communication skills. The data overall suggest a distinctive functional organization with system-specific anomalies associated with reduced adaptive efficiency. Opposite effects were identified on distinct frontal and anterior temporal structures and relative sparing of posterior brain areas, which is generally consistent with Down syndrome cognitive profile. Relevantly, measurable connectivity changes, as a marker of the brain functional anomaly, could have a role in the development of therapeutic strategies addressed to improve the quality of life in Down syndrome individuals. Copyright © 2014 Elsevier Ltd. All rights reserved.

Electronic Support Groups: An Open Line of Communication in Contested Illness.

Science.gov (United States)

Murphy, Michael; Kontos, Nicholas; Freudenreich, Oliver

Patients with functional somatic syndromes are often difficult to treat. The relationship between doctors and patients can be strained, which limits communication. Instead, patients often communicate with each other over the Internet in electronic support groups. This perspective summarizes studies of patient-to-patient communication over the Internet and uses the concept of contested illness to provide insights into the experiences of patients with functional somatic disorders. Conflict between a patient and their physician is a key feature of functional somatic syndromes. Physicians and patients do not have a shared understanding or appreciation of the patient's experiences. Patients with functional somatic syndromes often value their own embodied experience over medical knowledge. At the same time, they remain deeply invested in finding a "good doctor" who believes that the patient is suffering, agrees with their conception of the cause, and assents to the treatment as directed by the patient. Electronic support groups reinforce these beliefs. Patients may benefit from a compromising, collaborative approach that is realistic about the limitations of medical knowledge. However, physicians should not engage in unsafe treatment practices. Electronic support groups exist for a wide range of illnesses and the issues that rise to the surface in functional somatic syndromes likely occur to some extent with almost every patient. Copyright © 2016 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

Non-invasive neuromodulation as a new therapeutic strategy in the management of functional somatic symptoms

NARCIS (Netherlands)

Koops, Elouise; van Belkum, Sjoerd; Hanekamp, Sandra; Noort, P.D.; Broersma, Marja; van Beilen, Marije

2017-01-01

Objective A large proportion of medical symptoms remain unexplained and inadequate medical management is the result of this. These unexplained symptoms include functional neurological symptoms, fibromyalgia, complex regional pain syndrome and other symptoms such as chronic pain, tinnitus and

Kallmann syndrome and paranoid schizophrenia: A rare combination

NARCIS (Netherlands)

W.M.A. Verhoeven (Wim); J.I.M. Egger (Jos); J.E.J.M. Hovens (Hans); E.H. Hoefsloot (Lies)

2013-01-01

textabstractKallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been

DSM-IV-TR “pain disorder associated with psychological factors” as a nonhysterical form of somatization

OpenAIRE

Aragona, Massimiliano; Tarsitani, Lorenzo; De Nitto, Serena; Inghilleri, Maurizio

2008-01-01

BACKGROUND: Elevated Minnesota Multiphasic Personality Inventory (MMPI) scores on the hysteria (Hy) scale are reported in several forms of pain. Previous results were possibly biased by diagnostic heterogeneity (psychogenic, somatic and mixed pain syndromes included in the same index sample) or Hy heterogeneity (failure to differentiate Hy scores into clinically meaningful sub-scales, such as admission of symptoms [Ad] and denial of symptoms [Dn]).METHODS: To overcome this drawback, 48 patien...

DSM-IV-TR "pain disorder associated with psychological factors" as a nonhysterical form of somatization.

Science.gov (United States)

Aragona, Massimiliano; Tarsitani, Lorenzo; De Nitto, Serena; Inghilleri, Maurizio

2008-01-01

Elevated Minnesota Multiphasic Personality Inventory (MMPI) scores on the hysteria (Hy) scale are reported in several forms of pain. Previous results were possibly biased by diagnostic heterogeneity (psychogenic, somatic and mixed pain syndromes included in the same index sample) or Hy heterogeneity (failure to differentiate Hy scores into clinically meaningful subscales, such as admission of symptoms [Ad] and denial of symptoms [Dn]). To overcome this drawback, 48 patients diagnosed as having a Diagnostic and Statistical Manual of Mental Disorders, 4th edn, Text Revision (DSM-IV-TR) diagnosis of "pain disorder associated with psychological factors" were compared with 48 patients experiencing somatic pain excluding psychological factors, and 42 somatic controls without pain. MMPI Hy and hypochondriasis (Hs) scores were significantly higher in the pain disorder group than in control groups, who scored similarly. MMPI correction (K) scores and Dn scores were similar in the three groups, whereas Ad was significantly higher in the pain disorder group and lower and similar in the two control groups, respectively. In the pain disorder group, Ad and Dn were negatively correlated, whereas in control groups they were unrelated. These findings suggest that whereas a pattern of high Hs and Hy scores together with a normal K score might characterize patients with a pain disorder associated with psychological factors, elevated Hy scores per se do not indicate hysterical traits. In the pain disorder group, elevated Hy scores reflected the Ad subscale alone, indicating a strikingly high frequency of distressing somatic symptoms. They tend not to repress or deny the emotional malaise linked to symptoms, as the hysterical construct expects. The pain disorder designation should be considered a nonhysterical form of somatization.

Left ventricular structural and functional characteristics in Cushing's syndrome.

Science.gov (United States)

Muiesan, Maria Lorenza; Lupia, Mario; Salvetti, Massimo; Grigoletto, Consuelo; Sonino, Nicoletta; Boscaro, Marco; Rosei, Enrico Agabiti; Mantero, Franco; Fallo, Francesco

2003-06-18

This study was designed to evaluate left ventricular (LV) anatomy and function in patients with Cushing's syndrome. A high prevalence of LV hypertrophy and concentric remodeling has been reported in Cushing's syndrome, although no data have been reported on LV systolic and diastolic function. Forty-two consecutive patients with Cushing's syndrome and 42 control subjects, matched for age, gender, and blood pressure, were studied. Left ventricular mass index (LVMI) and relative wall thickness (RWT) were measured by echocardiography, endocardial and midwall fractional shortening (FS) were assessed, and diastolic filling was measured by Doppler transmitral flow. The RWT was significantly greater in Cushing patients than in controls. Left ventricular hypertrophy and concentric remodeling were observed in 10 and 26 patients with Cushing's syndrome, respectively. In Cushing patients, midwall FS was significantly reduced compared with controls (16.2 +/- 3% vs. 21 +/- 4.5%, p = 0.01). The ratio of transmitral E and A flow velocities was reduced and E deceleration time was prolonged in Cushing patients compared with controls (p = 0.03 and p < 0.001, respectively). In patients with Cushing's syndrome, cardiac structural changes are associated with reduced midwall systolic performance and with diastolic dysfunction that may contribute to the high risk of cardiovascular events observed in these patients.

Somatic symptom profiles in the general population

DEFF Research Database (Denmark)

Eliasen, Marie; Jørgensen, Torben; Schröder, Andreas

2017-01-01

PURPOSE: The aim of this study was to identify and describe somatic symptom profiles in the general adult population in order to enable further epidemiological research within multiple somatic symptoms. METHODS: Information on 19 self-reported common somatic symptoms was achieved from a population...

Direct somatic embryogenesis in Swietenia macrophylla King

Directory of Open Access Journals (Sweden)

Raúl Collado

2006-04-01

Full Text Available Swietenia macrophylla King is difficult to be propagated by tissue culture and there is not an efficient system via organogenesis, due to problems of microbial contamination, phenolic oxidation and death of tissue in the phase of in vitro establishment of explants. In order to establish a protocol for obtaining somatic embryos, zygotic embryos were used as initial plant material. Three combinations of 2,4-D with kinetin were studied, to obtain the formation of somatic embryos. After six weeks of culture, the number of explants with high and low somatic embryogenesis frequency were determined. So that the somatic embryos in globular stage reach the final stages of torpedo and cotyledonal, these were placed in three treatments with 6-BAP (0.2, 0.4 y 0.6 mg.l-1. The number of somatic embryos that reached the torpedo and cotyledonal stages were evaluated after 30 days of culture. Results demonstrated that direct somatic embryogenesis from immature zygotic embryos is obtained in the culture medium composed by MS salts with 4.0 mg.l-1 of 2,4-D and 1.0 mg.l-1 of kinetin. Higher percentage of somatic embryos in cotiledonal stage (91.7 %, was obtained with 0.4 mg.l-1 of 6-BAP. Key word: forestry, growth regulator, mahogany, somatic embryo, tissue culture

Performance in neurocognitive tasks in obese patients. Does somatic comorbidity matter?

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Wibke eKiunke

2013-08-01

Full Text Available The aim of the present study was to examine if obese individuals with obesity-related somatic comorbidity (i.e., hypertension, diabetes, sleep apnea, dyslipidemia, pain disorder perform worse in neurocognitive tasks compared to obese individuals without any somatic disorder. Neurocognitive functioning was measured by a computerized test battery that consisted of the following tasks: Corsi Block Tapping Test, Auditory Word Learning Task, Trail Making Test-Part B, Stroop Test, Labyrinth Test, and a 4-disk version of the Tower of Hanoi. The total sample consisted of 146 patients, the majority (N=113 suffered from obesity grade 3, 26 individuals had obesity grade 2, and only 7 individuals obesity grade 1. Ninety-eight participants (67.1% reported at least one somatic disorder (Soma+-group. Hypertension was present in 75 individuals (51.4%, type 2 diabetes in 34 participants (23.3%, 38 individuals had sleep apnea (26.0%, 16 suffered from dyslipidemia (11.0%, and 14 individuals reported having a chronic pain disorder (9.6%. Participants without a coexisting somatic disorder were younger (MSoma-=33.7, SD=9.8 vs. MSoma+=42.7, SD=11.0, F(1,144=23.01, p<0.001 and more often female (89.6% and 62.2%, χ2(1= 11.751, p=0.001 but did not differ with respect to education, regular binge eating or depressive symptoms from those in the Soma+-group. The Soma--group performed better on cognitive tasks related to memory and mental flexibility. However, the group differences disappeared completely after controlling for age. The findings indicate that in some obese patients increasing age may not only be accompanied by an increase of obesity severity and by more obesity-related somatic disorders but also by poorer cognitive functioning.

MMPI screening scales for somatization disorder.

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Wetzel, R D; Brim, J; Guze, S B; Cloninger, C R; Martin, R L; Clayton, P J

1999-08-01

44 items on the MMPI were identified which appear to correspond to some of the symptoms in nine of the 10 groups on the Perley-Guze checklist for somatization disorder (hysteria). This list was organized into two scales, one reflecting the total number of symptoms endorsed and the other the number of organ systems with at least one endorsed symptom. Full MMPIs were then obtained from 29 women with primary affective disorder and 37 women with somatization disorder as part of a follow-up study of a consecutive series of 500 psychiatric clinic patients seen at Washington University. Women with the diagnosis of somatization disorder scored significantly higher on the somatization disorder scales created from the 44 items than did women with only major depression. These new scales appeared to be slightly more effective in identifying somatization disorder than the use of the standard MMPI scales for hypochondriasis and hysteria. Further development is needed.

Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis.

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Maliepaard, Marianne; Mathijssen, Irene M J; Oosterlaan, Jaap; Okkerse, Jolanda M E

2014-06-01

To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual, behavioral, and emotional outcomes were assessed by using standardized measures: Wechsler Intelligence Scale for Children, Third Edition, Child Behavior Checklist (CBCL)/6-18, Disruptive Behavior Disorder rating scale (DBD), and the National Institute of Mental Health Diagnostic Interview Schedule for Children. We included 82 children (39 boys) aged 6 to 13 years who have syndromic craniosynostosis. Mean Full-Scale IQ (FSIQ) was in the normal range (M = 96.6; SD = 21.6). However, children who have syndromic craniosynostosis had a 1.9 times higher risk for developing intellectual disability (FSIQ intellectual disability, internalizing, social, and attention problems. Higher levels of behavioral and emotional problems were related to lower levels of intellectual functioning.

Personality characteristics in patients with somatized disorder

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Ekaterina Anatolyevna Tolkach

2010-01-01

Full Text Available Objective: to study personality characteristics, behavioral style, and modes of relations with their people in patients with somatized disorder. Subjects and methods. Eighty-six patients diagnosed as having somatized disorder were examined using Leary's interpersonal diagnosis system. Results. The author revealed the following personality characteristics and behavioral styles: a depressed need for authoritarianism, dominance, autonomy, aggressiveness, a display of qualities, such as superfriendliness, benevolence, submissiveness, dependency, and suspiciousness. These characteristics give an insight into the development of somatization in patients with somatized disorder.

A pathway-centric survey of somatic mutations in Chinese patients with colorectal carcinomas.

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Chao Ling

Full Text Available Previous genetic studies on colorectal carcinomas (CRC have identified multiple somatic mutations in four candidate pathways (TGF-β, Wnt, P53 and RTK-RAS pathways on populations of European ancestry. However, it is under-studied whether other populations harbor different sets of hot-spot somatic mutations in these pathways and other oncogenes. In this study, to evaluate the mutational spectrum of novel somatic mutations, we assessed 41 pairs of tumor-stroma tissues from Chinese patients with CRC, including 29 colon carcinomas and 12 rectal carcinomas. We designed Illumina Custom Amplicon panel to target 43 genes, including genes in the four candidate pathways, as well as several known oncogenes for other cancers. Candidate mutations were validated by Sanger sequencing, and we further used SIFT and PolyPhen-2 to assess potentially functional mutations. We discovered 3 new somatic mutations in gene APC, TCF7L2, and PIK3CA that had never been reported in the COSMIC or NCI-60 databases. Additionally, we confirmed 6 known somatic mutations in gene SMAD4, APC, FBXW7, BRAF and PTEN in Chinese CRC patients. While most were previously reported in CRC, one mutation in PTEN was reported only in malignant endometrium cancer. Our study confirmed the existence of known somatic mutations in the four candidate pathways for CRC in Chinese patients. We also discovered a number of novel somatic mutations in these pathways, which may have implications for the pathogenesis of CRC.

Adaptive Functioning in Williams Syndrome: A Systematic Review

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Brawn, Gabrielle; Porter, Melanie

2018-01-01

Literature on the level of adaptive functioning and relative strengths and weaknesses in functioning of individuals with Williams syndrome (WS) was reviewed. The electronic databases PsycINFO, PubMed, Expanded Academic, Web of Science, Scopus and ProQuest were searched electronically for relevant articles and dissertations using the search terms…

Sexual function in infertile women with polycystic ovary syndrome and unexplained infertility.

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Diamond, Michael P; Legro, Richard S; Coutifaris, Christos; Alvero, Ruben; Robinson, Randal D; Casson, Peter A; Christman, Gregory M; Huang, Hao; Hansen, Karl R; Baker, Valerie; Usadi, Rebecca; Seungdamrong, Aimee; Bates, G Wright; Rosen, R Mitchell; Schlaff, William; Haisenleder, Daniel; Krawetz, Stephen A; Barnhart, Kurt; Trussell, J C; Santoro, Nanette; Eisenberg, Esther; Zhang, Heping

2017-08-01

While female sexual dysfunction is a frequent occurrence, characteristics in infertile women are not well delineated. Furthermore, the impact of infertility etiology on the characteristics in women with differing androgen levels observed in women with polycystic ovary syndrome and unexplained infertility has not been assessed. The objective of the study was to determine the characteristics of sexual dysfunction in women with polycystic ovary syndrome and unexplained infertility. A secondary data analysis was performed on 2 of Eunice Kennedy Shriver National Institute of Child Health and Human Development Cooperative Reproductive Medicine Networks clinical trials: Pregnancy in Polycystic Ovary Syndrome Study II and Assessment of Multiple Intrauterine Gestations From Ovarian Stimulation. Both protocols assessed female sexual function using the Female Sexual Function Inventory and the Female Sexual Distress Scale. Women with polycystic ovary syndrome had higher weight and body mass index than women with unexplained infertility (each P polycystic ovary syndrome. The mean Female Sexual Function Inventory total score increased slightly as the free androgen index increased, mainly as a result of the desire subscore. This association was more pronounced in the women with unexplained infertility. Reproductive-age women with infertility associated with polycystic ovary syndrome and unexplained infertility, despite phenotypic and biochemical differences in androgenic manifestations, do not manifest clinically significant differences in sexual function. Copyright © 2017 Elsevier Inc. All rights reserved.

Somatic tinnitus prevalence and treatment with tinnitus retraining therapy.

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Ostermann, K; Lurquin, P; Horoi, M; Cotton, P; Hervé, V; Thill, M P

2016-01-01

Somatic tinnitus originates from increased activity of the dorsal cochlear nucleus, a cross-point between the somatic and auditory systems. Its activity can be modified by auditory stimulation or somatic system manipulation. Thus, sound enrichment and white noise stimulation might decrease tinnitus and associated somatic symptoms. The present uncontrolled study sought to determine somatic tinnitus prevalence among tinnitus sufferers, and to investigate whether sound therapy with counselling (tinnitus retraining therapy; TRT) may decrease tinnitus-associated somatic symptoms. To determine somatic tinnitus prevalence, 70 patients following the TRT protocol completed the Jastreboff Structured Interview (JSI) with additional questions regarding the presence and type of somatic symptoms. Among 21 somatic tinnitus patients, we further investigated the effects of TRT on tinnitus-associated facial dysesthesia. Before and after three months of TRT, tinnitus severity was evaluated using the Tinnitus Handicap Inventory (THI), and facial dysesthesia was assessed with an extended JSI-based questionnaire. Among the evaluated tinnitus patients, 56% presented somatic tinnitus-including 51% with facial dysesthesia, 36% who could modulate tinnitus by head and neck movements, and 13% with both conditions. Self-evaluation indicated that TRT significantly improved tinnitus and facial dysesthesia in 76% of patients. Three months of TRT led to a 50% decrease in mean THI and JSI scores regarding facial dysesthesia. Somatic tinnitus is a frequent and underestimated condition. We suggest an extension of the JSI, including specific questions regarding somatic tinnitus. TRT significantly improved tinnitus and accompanying facial dysesthesia, and could be a useful somatic tinnitus treatment.

Affective spectrum disorders and role of serotonergic system of the brain

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Timotijević Ivana P.

2014-01-01

Full Text Available Affective spectrum disorders include mood and anxiety disorders, whereas the term functional somatic syndromes describes disorders in which the main symptom is chronic pain, with no pathognomonic tissue damage, such as fibromyalgia, irritable colon, tension headache. Pain as a symptom is often present in patients with depression and anxiety, and similarly, depressed mood, anxiety and other psychiatric symptoms are common in patients with functional somatic syndromes. This explains attitudes that affective disorders and functional somatic syndromes should be found along the same spectrum, due to a similar neurobiochemicalmehanism and dysfunction of these CNS structures and neurotransmitter systems, which lead to similar symptoms in both groups. The symptoms of affective disorders, including somatic are associated with serotonin and serotonergic transmission in the CNS. The existence of depressive and anxiety disorders, such as fatigue, sleep disorders, cognitive disorders, depressed mood, anxiety, and functional somatic syndromes code indicate a similar mechanism of origin. Hypothesis of central neuropathic pain explains the possibility of the descending inhibitory pain mechanisms, including serotonergic and noradrenergic projections and their receptors. Central suprasegmental senzitization in nociceptive pathways, also at the level of the thalamus and the sensory cortex, trigered by an emotional stressors can cause painful symptoms in both groups of disorders. Serotonergic and noradrenergic pathways and voltage sensitive channels of their receptors are included in the mechanism. Modern psychopharmacology can no longer ignore the existence of painful symptoms in affective disorder or depressive and anxiety symptoms in functional somatic syndromes and their treatment can improve. Therapeutic effects of SSRI and SNRI antidepressants and alpha 2 delta ligands for all kinds of painful symptoms in affective disorders - serotonergic spectrum is

Adolescents with Functional Somatic Symptoms: The influence of family therapy on empowerment and illness beliefs

DEFF Research Database (Denmark)

Hulgaard, Ditte Roth; Rask, Charlotte; Dehlholm-Lambertsen, Birgitte

psychological treatment and the significance of illness beliefs and empowerment in children and adolescents with severe FSS is scarce. Aims: To conduct a qualitative study which aims to examine how specific illness beliefs and a sense of empowerment evolve and change during specialized family-based treatment......Background: Young patients with Functional Somatic Symptoms (FSS) are common and may present in all clinical settings. Psychological treatment targeting dysfunctional illness beliefs and poor sense of empowerment has been shown effective for FSS in adults. In comparison current knowledge about...... (IPA). Results: Preliminary data from a pilotstudy with 2 families, from interviews conducted prior to family therapy, indicate that illness beliefs and sense of empowerment may be diverging for children and their parents, and are influenced by many factors, such as health professionals, family history...

Beta-cell function is associated with metabolic syndrome in Mexican subjects

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Pérez-Fuentes

2010-08-01

Full Text Available Blanca G Baez-Duarte1,3, María Del Carmen Sánchez-Guillén3†, Ricardo Pérez-Fuentes2,3, Irma Zamora-Ginez1,3, Bertha Alicia Leon-Chavez1, Cristina Revilla-Monsalve4, Sergio Islas-Andrade41Posgrado en Ciencias Químicas, Benemérita Universidad Autónoma de Puebla, México; 2Facultad de Medicina, Benemérita Universidad Autónoma de Puebla, México; 3Centro de Investigación Biomédica de Oriente, Instituto Mexicano del Seguro Social, Atlixco, Puebla, México; 4Multidiciplinary Research Group on Diabetes (José Sánchez-Corona, Fernando Guerrero-Romero, Martha Rodriguez-Moran, Agustin Madero, Jorge Escobedo-de-la-Peña, Silvia Flores-Martinez, Esperanza, Martinez-Abundis, Manuel Gonzalez-Ortiz, Alberto Rascon-Pacheco, Margarita Torres-Tamayo, Instituto Mexicano del Seguro Social, México, Distrito Federal, México; †María Del Carmen Sánchez-Guillén passed away on 27 November 2009.Aims: The clinical diagnosis of metabolic syndrome does not find any parameters to evaluate the insulin sensitivity (IS or β-cell function. The evaluation of these parameters would detect early risk of developing metabolic syndrome. The aim of this study is to determine the relationship between β-cell function and presence of metabolic syndrome in Mexican subjects.Material and methods: This study is part of the Mexican Survey on the Prevention of Diabetes (MexDiab Study with headquarters in the city of Puebla, Mexico. The study comprised of 444 subjects of both genders, aged between 18 and 60 years and allocated into two study groups: (1 control group of individuals at metabolic balance without metabolic syndrome and (2 group composed of subjects with metabolic syndrome and diagnosed according to the criteria of the Third Report of the National Cholesterol Education Program Expert Panel on Defection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Anthropometric, biochemical, and clinical assessments were carried out.Results: Average age of the

The Role of Somatic Symptoms in Sexual Medicine: Somatization as Important Contextual Factor in Male Sexual Dysfunction.

Science.gov (United States)

Fanni, Egidia; Castellini, Giovanni; Corona, Giovanni; Boddi, Valentina; Ricca, Valdo; Rastrelli, Giulia; Fisher, Alessandra Daphne; Cipriani, Sarah; Maggi, Mario

2016-09-01

An important feature of somatic symptom disorder is the subjective perception of the physical symptoms and its maladaptive interpretation. Considering that psychological distress is often expressed through somatic symptoms, it is possible that they underlie at least a part of the symptoms in subjects complaining of sexual dysfunction. Nevertheless, studies on the impact of somatoform disorders in sexual dysfunction are scanty. To define the psychological, relational, and organic correlates of somatic symptoms in a large sample of patients complaining of sexual problems. A consecutive series of 2833 men (mean age 50.2 ± 13.5 years) was retrospectively studied. Somatic symptoms were assessed using the "somatized anxiety symptoms" subscale of the Middlesex Hospital Questionnaire (MHQ-S). Several clinical, biochemical, psychological, and relational parameters were studied. Patients were interviewed with the previously validated Structured Interview on Erectile Dysfunction (SIEDY), and ANDROTEST (a structured interview for the screening of hypogonadism in patients with sexual dysfunction). Among the 2833 patients studied, subjects scoring higher on somatic symptoms were older, more obese, reporting unhealthy lifestyle (current smoking, alcohol consumption), and a lower education (all P sexuality more often, including erectile problems (spontaneous or sexual-related), low sexual desire, decreased frequency of intercourse, and perceived reduction of ejaculate volume (all P sexual dysfunction. High levels of somatic symptoms in subjects with sexual dysfunction can be related to the sexual symptom itself. The consequences of this pattern have great clinical relevance in a sexual medicine setting, considering their severe impact on sexuality. Copyright © 2016 International Society for Sexual Medicine. Published by Elsevier Inc. All rights reserved.

Epidemiology, Clinical Characteristics, and Associations for Rome IV Functional Nausea and Vomiting Disorders in Adults.

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Aziz, Imran; Palsson, Olafur S; Whitehead, William E; Sperber, Ami D; Simrén, Magnus; Törnblom, Hans

2018-05-29

Functional nausea and vomiting disorders (FNVDs) are classified as chronic nausea and vomiting syndrome (CNVS) or cyclic vomiting syndrome (CVS) - CVS includes cannabinoid hyperemesis syndrome. We investigated the population prevalence of FNVDs, their characteristics, and associated factors. In the year 2015, an Internet cross-sectional health survey was completed by 5931 adults in the general populations of 3 English-speaking countries; 2100 participants were in the United States, Canada, or the United Kingdom. Quota-based sampling was used to generate demographically balanced and population-representative samples. The survey collected data on demographics, healthcare visits, medications, somatic symptom severity, quality of life, and symptom-based diagnostic criteria for Rome IV FNVDs as well as for irritable bowel syndrome and functional dyspepsia. Subsequent comparisons were made between Rome IV FNVD subjects and individuals without FNVDs (controls). Overall, 2.2% of the population (n=131) fulfilled symptom-based diagnostic criteria for Rome IV FNVDs - the United States (3%) had a greater prevalence than Canada (1.9%) or the United Kingdom (1.8%) (P=.02). The prevalence of CNVS was similar among the countries, ranging from 0.8% to 1.2%. However, the prevalence of CVS was higher in the United States (2%) than in Canada (0.7%) or the United Kingdom (1%) (P=.03). The proportion of subjects with CVS taking cannabis did not differ significantly among countries (P=.31), although the 7 cases of cannabinoid hyperemesis syndrome were in the United States. A significantly higher proportion of subjects with CVS reported a compulsive need for hot water bathing to alleviate emetic symptoms than subjects with CNVS (44% vs. 19%, P=.03); this behaviour was independent of cannabis but augmented by its use. Subjects with FNVDs had significantly greater health impairment and health care utilization than controls. On multivariate analysis, independent factors associated with FNVDs

[Somatic complaints, emotional awareness and maladjustment in schoolchildren].

Science.gov (United States)

Ordóñez, A; Maganto, C; González, R

2015-05-01

Somatic complaints are common in childhood. Research has shown their relationship with emotional awareness and maladjustment. The study had three objectives: 1) to analyze the prevalence of somatic complaints; 2) To explore the relationships between the variables evaluated: somatic complaints, differentiating emotions, verbal sharing of emotions, not hiding emotions, body awareness, attending to others' emotions, analysis of emotions, and personal, social, family, and school maladjustments; and 3) To identify predictors of somatic complaints. The study included a total of 1,134 randomly selected schoolchildren of both sexes between 10-12 years old (M=10.99; SD=0.88). The Somatic Complaint List, Emotional Awareness Questionnaire, and Self-reported Multifactor Test of Childhood Adaptation were used to gather information. The results showed that the prevalence of somatic complaints was 90.2%, with fatigue, headache and stomachache being the most frequently. Dizziness and headache were more common in girls, and the frequency of complaints decreases with age. Somatic complaints are negatively related to emotional awareness, and positively related to maladjustment. The variables that contribute the most to the prediction of somatic complaints are personal maladjustment (25.1%) and differentiating emotions (2.5%). The study shows that personal maladjustment is the best predictor of somatic complaints; the more emotional awareness and better adapted the child, the fewer somatic complaints they lodge. Childhood is a stage with significant physical discomfort. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

Functional abdominal pain syndrome treated with Korean medication

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Chang-Gue Son

2014-06-01

Full Text Available A 37-year-old female patient with chronic and stubborn abdominal pain had been hospitalized five times in three Western hospitals, but no effects were observed. No abnormalities were found in blood tests, gastrointestinal endoscopy, sonogram, and computed tomography of the abdomen, except mild paralytic ileus. The patient decided to rely on Korean medicine as an inpatient. She was diagnosed with functional abdominal pain syndrome, and her symptom differentiation was the “Yang deficiency of spleen and kidney.” A herbal drug, Hwangikyeji-tang, along with moxibustion and acupuncture, was given to the patient. Abdominal pain and related symptoms were reduced radically within 16 days of treatment. This report shows a therapeutic potential of Korean medicine-based treatment for functional abdominal pain syndrome.

Functional abdominal pain syndrome treated with Korean medication.

Science.gov (United States)

Son, Chang-Gue

2014-06-01

A 37-year-old female patient with chronic and stubborn abdominal pain had been hospitalized five times in three Western hospitals, but no effects were observed. No abnormalities were found in blood tests, gastrointestinal endoscopy, sonogram, and computed tomography of the abdomen, except mild paralytic ileus. The patient decided to rely on Korean medicine as an inpatient. She was diagnosed with functional abdominal pain syndrome, and her symptom differentiation was the " Yang deficiency of spleen and kidney ." A herbal drug, Hwangikyeji-tang , along with moxibustion and acupuncture, was given to the patient. Abdominal pain and related symptoms were reduced radically within 16 days of treatment. This report shows a therapeutic potential of Korean medicine-based treatment for functional abdominal pain syndrome.

Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.

Science.gov (United States)

Hirabayashi, Shinsuke; Seki, Masafumi; Hasegawa, Daisuke; Kato, Motohiro; Hyakuna, Nobuyuki; Shuo, Takuya; Kimura, Shunsuke; Yoshida, Kenichi; Kataoka, Keisuke; Fujii, Yoichi; Shiraishi, Yuichi; Chiba, Kenichi; Tanaka, Hiroko; Kiyokawa, Nobutaka; Miyano, Satoru; Ogawa, Seishi; Takita, Junko; Manabe, Atsushi

2017-12-01

Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) mutations and is characterized by multiple enchondromas along with hemangiomas. Malignant transformation of enchondromas to chondrosarcomas and secondary neoplasms, such as brain tumors or acute myeloid leukemia, are serious complications. A 15-year-old female with Maffucci syndrome developed B-cell precursor acute lymphoblastic leukemia (BCP-ALL). A somatic mutation in IDH1 was detected in hemangioma and leukemic cells. KRAS mutation and deletion of IKZF1 were detected in leukemic cells. Patients with Maffucci syndrome may, therefore, be at risk of BCP-ALL associated with secondary genetic events that affect lymphocyte differentiation. © 2017 Wiley Periodicals, Inc.

The Somatic Complaints List: Validation of a self-report questionnaire assessing somatic complaints in children

NARCIS (Netherlands)

Jellesma, F. C.; Rieffe, C.J.; Meerum Terwogt, M.

2007-01-01

Objective: To evaluate the Somatic Complaint List (SCL) in children. Method: At T1, 365 fourth and 352 fifth graders completed the SCL, the Children's Somatization Inventory (CSI-C), and the Mood Questionnaire. Parents (n=564) completed the parental form of the CSI-C (CSI-P). Six months later, the

The Self beyond Somatic Symptoms : A Narrative Approach to Self-Experience in Adolescent Chronic Fatigue Syndrome

NARCIS (Netherlands)

van Geelen, Stefan M.; Fuchs, Coralie E.; van Geel, Rolf; Luyten, Patrick; van de Putte, Elise M.

2015-01-01

BACKGROUND: The self and self-experience are often assumed to play an important role in adolescent patients presenting with severe somatic symptoms and bodily distress. Nonetheless, most empirical work on this subject is confined to studies of personality and patients' experience of negative

Cognitive functioning in adults with Noonan syndrome

NARCIS (Netherlands)

Wingbermühle, P.A.M.; Roelofs, R.L.; Burgt, I. van der; Verhoeven, W.M.A.; Kessels, R.P.C.; Egger, J.I.M.

2013-01-01

Objective: Noonan syndrome (NS) is a common genetic disorder characterized by short stature, facial dysmorphia, congenital heart defects and a slightly lowered mean IQ. Genetic research has revealed mutations in nine genes in the RAS-MAPK pathway. Although research on cognitive functioning in NS is

Home-Based Hypnotherapy Self-exercises vs Individual Hypnotherapy With a Therapist for Treatment of Pediatric Irritable Bowel Syndrome, Functional Abdominal Pain, or Functional Abdominal Pain Syndrome: A Randomized Clinical Trial

NARCIS (Netherlands)

Rutten, Juliette M. T. M.; Vlieger, Arine M.; Frankenhuis, Carla; George, Elvira K.; Groeneweg, Michael; Norbruis, Obbe F.; Tjon A ten, Walther; van Wering, Herbert M.; Dijkgraaf, Marcel G. W.; Merkus, Maruschka P.; Benninga, Marc A.

2017-01-01

Individual gut-directed hypnotherapy (HT) is effective in pediatric irritable bowel syndrome (IBS) and functional abdominal pain or functional abdominal pain syndrome (FAP[S]). It is, however, unavailable to many children. To compare the effectiveness of HT by means of home-based self-exercises

Executive functioning in chronic alcoholism and Korsakoff syndrome.

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Maharasingam, Malini; Macniven, Jamie A B; Mason, Oliver J

2013-01-01

Korsakoff syndrome (KS) is characterized by dense anterograde and retrograde amnesia. There is often a temporal gradient to the retrograde amnesia, with earlier memories more readily recalled than recent memories. Executive functioning has also been found to be impaired in KS. However, research comparing executive functioning between chronic alcoholics (AL) and patients with KS has been relatively sparse to date. In a group comparison design, executive functioning in 15 KS patients and 16 chronic alcoholic patients was assessed using the Behavioural Assessment of the Dysexecutive Syndrome test (BADS) and other secondary measures. The KS group was found to be significantly more impaired than the AL group on overall performance on the BADS (p Korsakoff patients are significantly more impaired in executive functioning than non-Korsakoff chronic alcoholics. We thank the participants of the study and also acknowledge the support of the University of Nottingham, particularly Nadina Lincoln, and the North East London NHS Foundation Trust. We are also very grateful to the anonymous reviewers of earlier drafts of this manuscript for their invaluable comments.

Somatization in Parkinson's Disease

DEFF Research Database (Denmark)

Carrozzino, Danilo; Bech, Per; Patierno, Chiara

2017-01-01

The current systematic review study is aimed at critically analyzing from a clinimetric viewpoint the clinical consequence of somatization in Parkinson's Disease (PD). By focusing on the International Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we...... consequence of such psychiatric symptom should be further evaluated by replacing the clinically inadequate diagnostic label of psychogenic parkinsonism with the psychosomatic concept of persistent somatization as conceived by the Diagnostic Criteria for Psychosomatic Research (DCPR)....

Cardiac structure and function in Cushing's syndrome: a cardiac magnetic resonance imaging study.

Science.gov (United States)

Kamenický, Peter; Redheuil, Alban; Roux, Charles; Salenave, Sylvie; Kachenoura, Nadjia; Raissouni, Zainab; Macron, Laurent; Guignat, Laurence; Jublanc, Christel; Azarine, Arshid; Brailly, Sylvie; Young, Jacques; Mousseaux, Elie; Chanson, Philippe

2014-11-01

Patients with Cushing's syndrome have left ventricular (LV) hypertrophy and dysfunction on echocardiography, but echo-based measurements may have limited accuracy in obese patients. No data are available on right ventricular (RV) and left atrial (LA) size and function in these patients. The objective of the study was to evaluate LV, RV, and LA structure and function in patients with Cushing's syndrome by means of cardiac magnetic resonance, currently the reference modality in assessment of cardiac geometry and function. Eighteen patients with active Cushing's syndrome and 18 volunteers matched for age, sex, and body mass index were studied by cardiac magnetic resonance. The imaging was repeated in the patients 6 months (range 2-12 mo) after the treatment of hypercortisolism. Compared with controls, patients with Cushing's syndrome had lower LV, RV, and LA ejection fractions (P Cushing's syndrome is associated with subclinical biventricular and LA systolic dysfunctions that are reversible after treatment. Despite skeletal muscle atrophy, Cushing's syndrome patients have an increased LV mass, reversible upon correction of hypercortisolism.

Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis.

Directory of Open Access Journals (Sweden)

Bernd Timmermann

Full Text Available BACKGROUND: Colorectal cancer (CRC is with approximately 1 million cases the third most common cancer worldwide. Extensive research is ongoing to decipher the underlying genetic patterns with the hope to improve early cancer diagnosis and treatment. In this direction, the recent progress in next generation sequencing technologies has revolutionized the field of cancer genomics. However, one caveat of these studies remains the large amount of genetic variations identified and their interpretation. METHODOLOGY/PRINCIPAL FINDINGS: Here we present the first work on whole exome NGS of primary colon cancers. We performed 454 whole exome pyrosequencing of tumor as well as adjacent not affected normal colonic tissue from microsatellite stable (MSS and microsatellite instable (MSI colon cancer patients and identified more than 50,000 small nucleotide variations for each tissue. According to predictions based on MSS and MSI pathomechanisms we identified eight times more somatic non-synonymous variations in MSI cancers than in MSS and we were able to reproduce the result in four additional CRCs. Our bioinformatics filtering approach narrowed down the rate of most significant mutations to 359 for MSI and 45 for MSS CRCs with predicted altered protein functions. In both CRCs, MSI and MSS, we found somatic mutations in the intracellular kinase domain of bone morphogenetic protein receptor 1A, BMPR1A, a gene where so far germline mutations are associated with juvenile polyposis syndrome, and show that the mutations functionally impair the protein function. CONCLUSIONS/SIGNIFICANCE: We conclude that with deep sequencing of tumor exomes one may be able to predict the microsatellite status of CRC and in addition identify potentially clinically relevant mutations.

Assessment of the effects of massage therapy on premenstrual syndrome

Directory of Open Access Journals (Sweden)

Leily Ghaedi

2011-05-01

Full Text Available Background: Premenstrual syndrome is characterized by the cyclic occurrence physical, psychological and behavioral symptoms during the luteal phase of the menstruation cycle and will be disappear within a few days of the onset of menstruation. The aim of this research was to assess the effect of massage therapy on premenstrual syndrome. Materials and Method: A randomized clinical trial was carried out on 30 volunteer students of Tehran University with PMS diagnosis. After surveying two menstruation cycles and confirming PMS existence, subjects were randomly assigned into massage and control group. Massage protocol was performed for eight weeks. Volunteers completed Daily Symptom Rating (DSR during 2 cycles before and 2 cycles after intervention. Data collected via data gathering form, criteria for PMS (DSM- IV, DSR and Beck test. Data were analyzed by descriptive and analytic statistics (χ2, Fischer's exact test, paired and independent t tests.Results: In comparison between before and after intervention, massage group showed significant decrease averagely in mean of somatic (56.7%, psychological (64.8% (p<0.001.This is while, in control group only mean of somatic symptoms (averagely 21.2% relieved obviously (p=0.02. comparing two groups often intervention, we did not found any significant difference in mean of somatic symptoms while psychological (p=0.01 and total symptoms (p=0.03 in massage group was significantly less than controls.Conclusion: The authors concluded that massage therapy is an effective method for relieving symptoms of premenstrual syndrome

Should general psychiatry ignore somatization and hypochondriasis?

Science.gov (United States)

Creed, Francis

2006-10-01

This paper examines the tendency for general psychiatry to ignore somatization and hypochondriasis. These disorders are rarely included in national surveys of mental health and are not usually regarded as a concern of general psychiatrists; yet primary care doctors and other physicians often feel let down by psychiatry's failure to offer help in this area of medical practice. Many psychiatrists are unaware of the suffering, impaired function and high costs that can result from these disorders, because these occur mainly within primary care and secondary medical services. Difficulties in diagnosis and a tendency to regard them as purely secondary phenomena of depression, anxiety and related disorders mean that general psychiatry may continue to ignore somatization and hypochondriasis. If general psychiatry embraced these disorders more fully, however, it might lead to better prevention and treatment of depression as well as helping to prevent the severe disability that may arise in association with these disorders.

Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

Science.gov (United States)

Garavelli, Livia; Cordeddu, Viviana; Errico, Stefania; Bertolini, Patrizia; Street, Maria Elisabeth; Rosato, Simonetta; Pollazzon, Marzia; Wischmeijer, Anita; Ivanovski, Ivan; Daniele, Paola; Bacchini, Ermanno; Lombardi, Alfonsa Anna; Izzi, Giancarlo; Biasucci, Giacomo; Del Rossi, Carmine; Corradi, Domenico; Cazzaniga, Giovanni; Dominici, Carlo; Rossi, Cesare; De Luca, Alessandro; Bernasconi, Sergio; Riccardi, Riccardo; Legius, Eric; Tartaglia, Marco

2015-08-01

Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and functionally unique mutation in SHOC2 (c.4A>G, p.Ser2Gly). Here, we report on a child with molecularly confirmed NSLH who developed a neuroblastoma, first suspected at the age 3 months by abdominal ultrasound examination. Based on this finding, scanning of the SHOC2 coding sequence encompassing the c.4A>G change was performed on selected pediatric cohorts of malignancies documented to occur in RASopathies (i.e., neuroblastoma, brain tumors, rhabdomyosarcoma, acute lymphoblastic, and myeloid leukemia), but failed to identify a functionally relevant cancer-associated variant. While these results do not support a major role of somatic SHOC2 mutations in these pediatric cancers, this second instance of neuroblastoma in NSLAH suggests a possible predisposition to this malignancy in subjects heterozygous for the c.4A>G SHOC2 mutation. © 2015 Wiley Periodicals, Inc.

The Turner syndrome in patient with 45X/47XXX mosaic karyotype--case report.

Science.gov (United States)

Maciejewska-Jeske, Marzena; Czyzyk, Adam; Meczekalski, Blazej

2015-07-01

Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found. She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.

Somatization: a perspective from self psychology.

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Rodin, G M

1991-01-01

Somatization is a complex phenomenon that occurs in many forms and diverse settings. It is not necessarily pathological and may be found in a variety of psychiatric disorders. Much of the psychiatric literature has focused on patients with conversion disorders and hypochondriasis. Psychoanalytic theories regarding such conditions were largely based upon concepts of drive, conflict, and defense. The perspective from self psychology, with its emphasis on subjective experience and the sense of self, may further enhance the psychoanalytic understanding of somatization. Individuals with disturbances in the stability and organization of the self may present with somatic symptoms and disturbances in emotional awareness. Somatization in such cases may be the experiential manifestation of a disturbance in the cohesion of the self and/or may result from defensive operations to ward off affect. The latter may be prominent when affective arousal triggers the psychological threat of fragmentation. Somatization may diminish in such individuals when a self-object relationship is formed that bolsters and consolidates the sense of self. The integration of affect into ongoing subjective experience may also be an important aspect of psychoanalytic treatment in such patients.

How Executive Functions Are Related to Intelligence in Williams Syndrome

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Osorio, Ana; Cruz, Raquel; Sampaio, Adriana; Garayzabal, Elena; Martinez-Regueiro, Rocio; Goncalves, Oscar F.; Carracedo, Angel; Fernandez-Prieto, Montse

2012-01-01

Williams syndrome is characterized by impairments in executive functions (EFs). However, it remains unknown how distinct types of EFs relate to intelligence in this syndrome. The present study analyzed performance on working memory, inhibiting and shifting, and its links to IQ in a sample of 17 individuals with WS, and compared them with a group…

Turner Syndrome: Neuroimaging Findings--Structural and Functional

Science.gov (United States)

Mullaney, Ronan; Murphy, Declan

2009-01-01

Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including…

First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.

Science.gov (United States)

Taïeb, David; Yang, Chunzhang; Delenne, Blandine; Zhuang, Zhengping; Barlier, Anne; Sebag, Fréderic; Pacak, Karel

2013-05-01

Molecular genetic research has so far resulted in the identification of 10 well-characterized susceptibility genes for hereditary pheochromocytoma (PHEO) or paraganglioma (PGL). Recently, a new syndrome characterized by multiple PGLs and somatostatinomas associated with congenital polycythemia due to somatic mutations in HIF2A has been reported. The aim of the study was to define the genetic defect in a new case of bilateral PHEO and multiple PGLs associated with congenital polycythemia. A female patient presented with neonatal polycythemia (treated by phlebotomies, 1 session approximately every 4 mo), mildly enlarged cerebral ventricles, and bilateral PHEO and multiple PGLs. There was no family history of any neuroendocrine tumor or polycythemia. Surgical removal of the tumors only temporarily normalized plasma erythropoietin (Epo) levels and discontinued phlebotomies. No germline mutations were initially detected in the SDHB, SDHC, SDHD, VHL, and PHD2 genes, known to be associated with polycythemia. The PHEOs presented with a typical noradrenergic biochemical phenotype. A heterozygous missense mutation (c.1589C>T) was identified in exon 12 of HIF2A, resulting in an alanine 530 substitution in the HIF-2α protein with valine (A530V). This somatic mutation was detected in the tissue from 1 PHEO and 1 PGL, with no HIF2A germline mutation found. This mutation led to stabilization of HIF-2α and hence a gain-of-function phenotype, as in previously published studies. This case represents the first association of a somatic HIF2A gain-of-function mutation with PHEO and congenital polycythemia, and it alerts physicians to perform proper genetic screening in patients presenting with multiple norepinephrine-producing PHEOs and polycythemia. This report also extends the previous findings of a new syndrome of only multiple PGLs, somatostatinomas, and polycythemia to multiple PHEOs.

Predictive factors for somatization in a trauma sample

DEFF Research Database (Denmark)

Elklit, Ask; Christiansen, Dorte M

2009-01-01

ABSTRACT: BACKGROUND: Unexplained somatic symptoms are common among trauma survivors. The relationship between trauma and somatization appears to be mediated by posttraumatic stress disorder (PTSD). However, only few studies have focused on what other psychological risk factors may predispose...... a trauma victim towards developing somatoform symptoms. METHODS: The present paper examines the predictive value of PTSD severity, dissociation, negative affectivity, depression, anxiety, and feeling incompetent on somatization in a Danish sample of 169 adult men and women who were affected by a series...... of incompetence significantly predicted somatization in the trauma sample whereas dissociation, depression, and anxiety were not associated with degree of somatization. PTSD as a risk factor was mediated by negative affectivity....

Somatic point mutation calling in low cellularity tumors.

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Karin S Kassahn

Full Text Available Somatic mutation calling from next-generation sequencing data remains a challenge due to the difficulties of distinguishing true somatic events from artifacts arising from PCR, sequencing errors or mis-mapping. Tumor cellularity or purity, sub-clonality and copy number changes also confound the identification of true somatic events against a background of germline variants. We have developed a heuristic strategy and software (http://www.qcmg.org/bioinformatics/qsnp/ for somatic mutation calling in samples with low tumor content and we show the superior sensitivity and precision of our approach using a previously sequenced cell line, a series of tumor/normal admixtures, and 3,253 putative somatic SNVs verified on an orthogonal platform.

Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome.

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Larhant, Matthieu; Sourice, Sophie; Grimaud, Fanny; Cordoba, Luis; Leveau, Sophie; Huet, Pascal; Corre, Pierre; Khonsari, Roman Hossein

2014-06-01

Radiculomegaly affecting incisors, canines or premolars is a rare radiological finding (Maden et al., 2010) but is pathognomomic of a rare x-linked dominant syndrome called oculo-facio-cardio-dental syndrome (OFCDS). As this syndrome includes cardiac malformations and can lead to blindness due to congenital glaucoma, oral and maxillofacial surgeons should be aware of the somatic anomalies potentially associated with radiculomegaly. We report a typical case of OFCDS and provide the first description of the microscopic dental anomalies associated with this syndrome. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Somatic embryogenesis of Carica Papaya

International Nuclear Information System (INIS)

Alvina Lindsay Mijen; Rusli Ibrahim

2006-01-01

This paper describes the somatic embryogenesis of Carica papaya. Culture medium used was1/2 strength MS basal medium supplemented with 6% sucrose, 0.27 % agar, glutamine and various concentrations of 2,4-Dichlorophenoxyacetic acid (2,4-D). After 8 weeks in culture, the best concentration of 2,4-D to induce somatic embryo is at 45.2 μM. (Author)

Somatic-Affective, But Not Cognitive-Depressive Symptoms are Associated With Reduced Health-Related Quality of Life in Patients With Congestive Heart Failure.

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Patron, Elisabetta; Messerotti Benvenuti, Simone; Lopriore, Vincenzo; Aratari, Jenny; Palomba, Daniela

Depression has been associated with poor health-related quality of life (HRQoL) in patients with congestive heart failure (CHF). However, to date, whether somatic-affective and cognitive-depressive symptoms differently contribute to poor HRQoL and behavioral functional capacity in patients with CHF has yet to be investigated. To examine the differential influence of somatic-affective vs cognitive-depressive symptoms on HRQoL and behavioral functional capacity in CHF patients. Overall, 55 patients with CHF completed a psychologic evaluation, including the Minnesota Living with Heart Failure Questionnaire, the Beck Depression Inventory-II, and the Beck Anxiety Inventory for HRQoL, depressive, and anxiety symptoms, respectively. The patients completed the Instrumental Activities of Daily Living Questionnaire and the 6-minute walk test for behavioral functional capacity. Hierarchical regression analyses were used to predict HRQoL and behavioral functional capacity from Beck Depression Inventory-II and Beck Anxiety Inventory scores. Somatic-affective depressive symptoms were associated with physical (β = 0.37, p = 0.005) and emotional (β = 0.39, p = 0.008) Minnesota Living with Heart Failure Questionnaire subscale scores. Likewise, somatic-affective depressive symptoms predicted Instrumental Activities of Daily Livings Scores (β = 0.43, p = 0.004) and distance ambulated during the 6-minute walk test (β = -0.36, p = 0.029). By contrast, cognitive-depressive symptoms and anxiety were unrelated to HRQoL and behavioral functional capacity (all p > 0.05). These findings showed that somatic-affective depressive symptoms, but not cognitive-depressive symptoms and anxiety, are associated with poor HRQoL and behavioral functional capacity independent of age, clinical functional status, and medical comorbidities. This study suggests that patients with CHF with somatic-affective rather than cognitive-depressive symptoms or anxiety may be at greater risk of poor HRQoL and

Should general psychiatry ignore somatization and hypochondriasis?

OpenAIRE

CREED, FRANCIS

2006-01-01

This paper examines the tendency for general psychiatry to ignore somatization and hypochondriasis. These disorders are rarely included in national surveys of mental health and are not usually regarded as a concern of general psychiatrists; yet primary care doctors and other physicians often feel let down by psychiatry's failure to offer help in this area of medical practice. Many psychiatrists are unaware of the suffering, impaired function and high costs that can result fr...

Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings.

Science.gov (United States)

Pierpont, Elizabeth I; Tworog-Dube, Erica; Roberts, Amy E

2015-04-01

Emerging research indicates that gene mutations within the RAS-MAPK signaling cascade, which cause Noonan syndrome and related disorders, affect neurophysiologic activity in brain regions underlying attention and executive functions. The present study examined whether children with Noonan syndrome are at heightened risk for symptoms of attention-deficit-hyperactivity disorder (ADHD) and executive dysfunction relative to an unaffected sibling comparison group, and investigated three key aspects of behavioral attention: auditory attention, sustained attention, and response inhibition. Children and adolescents with Noonan syndrome (n=32, 17 males, 15 females, mean age 11y 3mo, SD 3y) and their unaffected siblings (n=16, eight males, eight females, mean age 11y, SD 3y 6mo) were administered standardized tests of intellectual functioning and clinic-based measures of behavioral attention. Parent ratings of ADHD symptoms, executive functioning, and behavior were also obtained. Children with Noonan syndrome demonstrated higher rates of past ADHD diagnosis, as well as reduced performance compared with unaffected siblings on behavioral attention measures. Parent-rated functional impairments in attention, social skills, working memory, and self-monitoring were more prevalent in the Noonan syndrome group. The relationship between attention regulation skills (sustained attention and inhibitory control) and intellectual test performance was significantly stronger in the Noonan syndrome group than the comparison group. Clinical screening/evaluation for ADHD and executive dysfunction in Noonan syndrome is recommended to facilitate appropriate intervention and to address functional impact on daily life activities. © 2014 Mac Keith Press.

Cumulative contextual and individual disadvantages over the life course and adult functional somatic symptoms in Sweden.

Science.gov (United States)

Gustafsson, Per E; Hammarström, Anne; San Sebastian, Miguel

2015-08-01

Disadvantage, originating in one's residential context or in one's past life course, has been shown to impact on health in adulthood. There is however little research on the accumulated health impact of both neighbourhood and individual conditions over the life course. This study aims to examine whether the accumulation of contextual and individual disadvantages from adolescence to middle-age predicts functional somatic symptoms (FSS) in middle-age, taking baseline health into account. The sample is the age 16, 21, 30 and 42 surveys of the prospective Northern Swedish Cohort, with analytical sample size n = 910 (85% of the original cohort). FSS at age 16 and 42, and cumulative socioeconomic disadvantage, social adversity and material adversity between 16 and 42 years were operationalized from questionnaires, and cumulative neighbourhood disadvantage between 16 and 42 years from register data. Results showed accumulation of disadvantages jointly explained 9-12% of FSS variance. In the total sample, cumulative neighbourhood and socioeconomic disadvantage significantly predicted FSS at age 42 in the total sample. In women, neighbourhood disadvantage but not socioeconomic disadvantage contributed significantly, whereas in men, socioeconomic but not neighbourhood disadvantage contributed significantly. In all analyses, associations were largely explained by the parallel accumulation of social and material adversities, but not by symptoms at baseline. In conclusion, the accumulation of diverse forms of disadvantages together plays an important role for somatic complaints in adulthood, independently of baseline health. © The Author 2014. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved.

Induction of somatic embryogenesis in soybean: physicochemical factors influencing the development of somatic embryos

Directory of Open Access Journals (Sweden)

Bonacin Gisele Aparecida

2000-01-01

Full Text Available The embryogenic capability of five soybean cultivars (Renascença, IAS-5, IAC-17, BR-16 and FT-Cometa was studied at different auxin concentrations (8, 10 and 12 mg/l naphthalene acetic acid, NAA, at different pHs (5.8 and 7.0 and at low (8-12 muEm-2 s-1 and high (27-33 mEm-2 s-1 light intensities. The experimental design was completely randomized with four replications. Immature cotyledons 4-6 mm in length were placed in the six induction mediums evaluated and submitted to two light intensities. Twenty immature cotyledons per cultivar were placed on each Petri dish, which was considered to be one replication. The number of somatic embryos per treatment per replication was counted. The results showed genotype influence on somatic embryogenic capability of each cultivar, with the most embryogenic cultivars being BR-16, FT-Cometa and IAS-5. Auxin concentration and pH value also influenced somatic embryo production, with 10 mg/l NAA being the best auxin concentration and 7.0 the best pH value. The interactions cultivar x auxin, auxin x pH and pH x light were significant, while other double interactions were not. All triple and quadruple interactions were significant, except cultivar x pH x light. No significant differences in somatic embryo production were observed in medium with different pHs or when the Petri dishes containing immature cotyledons were exposed to the two light intensities evaluated. However, a higher number of somatic embryos was produced when the medium pH was adjusted to 7.0.

Depression and hypochondriasis in family practice patients with somatization disorder.

Science.gov (United States)

Oxman, T E; Barrett, J

1985-10-01

The relationships specified in DSM-III between somatization disorder and depression, and somatization disorder and hypochondriasis require further validation and easier methods of detection for use by primary care physicians. The authors investigated hypochondriacal and depressive symptoms in 13 family practice outpatients with somatization disorder. Pain complaints and depressive symptomatology were present in over 75% of this group, while hypochondriacal symptoms were present in 38%. The mean score on the somatization scale of the Hopkins Symptom Check List (HSCL-90) was greater than that reported for any other group. These findings support the separation of somatization disorder and hypochondriasis and suggest the need for better delineation of depressive subtypes in somatization disorder. The somatization scale of the HSCL-90 should be a useful screen for somatization disorder in future research.

DSM-IV-TR “pain disorder associated with psychological factors” as a nonhysterical form of somatization

Science.gov (United States)

Aragona, Massimiliano; Tarsitani, Lorenzo; De Nitto, Serena; Inghilleri, Maurizio

2008-01-01

BACKGROUND: Elevated Minnesota Multiphasic Personality Inventory (MMPI) scores on the hysteria (Hy) scale are reported in several forms of pain. Previous results were possibly biased by diagnostic heterogeneity (psychogenic, somatic and mixed pain syndromes included in the same index sample) or Hy heterogeneity (failure to differentiate Hy scores into clinically meaningful sub-scales, such as admission of symptoms [Ad] and denial of symptoms [Dn]). METHODS: To overcome this drawback, 48 patients diagnosed as having a Diagnostic and Statistical Manual of Mental Disorders, 4th edn, Text Revision (DSM-IV-TR) diagnosis of “pain disorder associated with psychological factors” were compared with 48 patients experiencing somatic pain excluding psychological factors, and 42 somatic controls without pain. RESULTS: MMPI Hy and hypochondriasis (Hs) scores were significantly higher in the pain disorder group than in control groups, who scored similarly. MMPI correction (K) scores and Dn scores were similar in the three groups, whereas Ad was significantly higher in the pain disorder group and lower and similar in the two control groups, respectively. In the pain disorder group, Ad and Dn were negatively correlated, whereas in control groups they were unrelated. CONCLUSIONS: These findings suggest that whereas a pattern of high Hs and Hy scores together with a normal K score might characterize patients with a pain disorder associated with psychological factors, elevated Hy scores per se do not indicate hysterical traits. In the pain disorder group, elevated Hy scores reflected the Ad subscale alone, indicating a strikingly high frequency of distressing somatic symptoms. They tend not to repress or deny the emotional malaise linked to symptoms, as the hysterical construct expects. The pain disorder designation should be considered a nonhysterical form of somatization. PMID:18301811

Clinical features of functional somatic symptoms in children and referral patterns to child and adolescent mental health services

DEFF Research Database (Denmark)

Tøt-Strate, Simone; Dehlholm-Lambertsen, Gitte; Lassen, Karin

2016-01-01

AIM: Functional somatic symptoms (FSS) are common in paediatric patients who are referred to Child and Adolescent Mental Health Service (CAMHS), but little is known about current referral practices. The aim of this study was to systematically investigate clinical features of paediatric inpatients...... who had been referred and 44 children who had not. RESULTS: Most paediatric records lacked information on psychosocial factors and symptoms. Referred children were significantly more multisymptomatic of FSS (p controls, had longer symptom duration, underwent more clinical...... reasons were generally vague and psychosocial information was frequently missing. Clinical guidelines are needed to improve and systematise mental health referrals for children with FSS....

Multicellularity makes somatic differentiation evolutionarily stable

Science.gov (United States)

Wahl, Mary E.; Murray, Andrew W.

2016-01-01

Many multicellular organisms produce two cell lineages: germ cells, whose descendants produce the next generation, and somatic cells, which support, protect, and disperse the germ cells. This germ-soma demarcation has evolved independently in dozens of multicellular taxa but is absent in unicellular species. A common explanation holds that in these organisms, inefficient intercellular nutrient exchange compels the fitness cost of producing nonreproductive somatic cells to outweigh any potential benefits. We propose instead that the absence of unicellular, soma-producing populations reflects their susceptibility to invasion by nondifferentiating mutants that ultimately eradicate the soma-producing lineage. We argue that multicellularity can prevent the victory of such mutants by giving germ cells preferential access to the benefits conferred by somatic cells. The absence of natural unicellular, soma-producing species previously prevented these hypotheses from being directly tested in vivo: to overcome this obstacle, we engineered strains of the budding yeast Saccharomyces cerevisiae that differ only in the presence or absence of multicellularity and somatic differentiation, permitting direct comparisons between organisms with different lifestyles. Our strains implement the essential features of irreversible conversion from germ line to soma, reproductive division of labor, and clonal multicellularity while maintaining sufficient generality to permit broad extension of our conclusions. Our somatic cells can provide fitness benefits that exceed the reproductive costs of their production, even in unicellular strains. We find that nondifferentiating mutants overtake unicellular populations but are outcompeted by multicellular, soma-producing strains, suggesting that multicellularity confers evolutionary stability to somatic differentiation. PMID:27402737

Somatic HLA mutations expose the role of class I–mediated autoimmunity in aplastic anemia and its clonal complications

Science.gov (United States)

Duke, Jamie L.; Xie, Hongbo M.; Stanley, Natasha; Atienza, Jamie; Perdigones, Nieves; Nicholas, Peter; Ferriola, Deborah; Li, Yimei; Huang, Hugh; Ye, Wenda; Morrissette, Jennifer J. D.; Kearns, Jane; Porter, David L.; Podsakoff, Gregory M.; Eisenlohr, Laurence C.; Biegel, Jaclyn A.; Chou, Stella T.; Monos, Dimitrios S.; Bessler, Monica; Olson, Timothy S.

2017-01-01

Acquired aplastic anemia (aAA) is an acquired deficiency of early hematopoietic cells, characterized by inadequate blood production, and a predisposition to myelodysplastic syndrome (MDS) and leukemia. Although its exact pathogenesis is unknown, aAA is thought to be driven by human leukocyte antigen (HLA)–restricted T cell immunity, with earlier studies favoring HLA class II-mediated pathways. Using whole-exome sequencing (WES), we recently identified 2 patients with aAA with somatic mutations in HLA class I genes. We hypothesized that HLA class I mutations are pathognomonic for autoimmunity in aAA, but were previously underappreciated because the major histocompatibility complex (MHC) region is notoriously difficult to analyze by WES. Using a combination of targeted deep sequencing of HLA class I genes and single nucleotide polymorphism array (SNP-A) genotyping, we screened 66 patients with aAA for somatic HLA class I loss. We found somatic HLA loss in 11 patients (17%), with 13 loss-of-function mutations in HLA-A*33:03, HLA-A*68:01, HLA-B*14:02, and HLA-B*40:02 alleles. Three patients had more than 1 mutation targeting the same HLA allele. Interestingly, HLA-B*14:02 and HLA-B*40:02 were significantly overrepresented in patients with aAA compared with ethnicity-matched controls. Patients who inherited the targeted HLA alleles, regardless of HLA mutation status, had a more severe disease course with more frequent clonal complications as assessed by WES, SNP-A, and metaphase cytogenetics, and more frequent secondary MDS. The finding of recurrent HLA class I mutations provides compelling evidence for a predominant HLA class I-driven autoimmunity in aAA and establishes a novel link between immunogenetics and clonal evolution of patients with aAA. PMID:28971166

Somatic HLA Mutations Expose the Role of Class I-Mediated Autoimmunity in Aplastic Anemia and its Clonal Complications.

Science.gov (United States)

Babushok, Daria V; Duke, Jamie L; Xie, Hongbo M; Stanley, Natasha; Atienza, Jamie; Perdigones, Nieves; Nicholas, Peter; Ferriola, Deborah; Li, Yimei; Huang, Hugh; Ye, Wenda; Morrissette, Jennifer J D; Kearns, Jane; Porter, David L; Podsakoff, Gregory M; Eisenlohr, Laurence C; Biegel, Jaclyn A; Chou, Stella T; Monos, Dimitrios S; Bessler, Monica; Olson, Timothy S

2017-10-10

Acquired aplastic anemia (aAA) is an acquired deficiency of early hematopoietic cells, characterized by inadequate blood production, and a predisposition to myelodysplastic syndrome (MDS) and leukemia. Although its exact pathogenesis is unknown, aAA is thought to be driven by Human Leukocyte Antigen (HLA)-restricted T cell immunity, with earlier studies favoring HLA class II-mediated pathways. Using whole exome sequencing (WES), we recently identified two aAA patients with somatic mutations in HLA class I genes. We hypothesized that HLA class I mutations are pathognomonic for autoimmunity in aAA, but were previously underappreciated because the Major Histocompatibility Complex (MHC) region is notoriously difficult to analyze by WES. Using a combination of targeted deep sequencing of HLA class I genes and single nucleotide polymorphism array (SNP-A) genotyping we screened 66 aAA patients for somatic HLA class I loss. We found somatic HLA loss in eleven patients (17%), with thirteen loss-of-function mutations in HLA-A *33:03, HLA-A *68:01, HLA-B *14:02 and HLA-B *40:02 alleles. Three patients had more than one mutation targeting the same HLA allele. Interestingly, HLA-B *14:02 and HLA-B *40:02 were significantly overrepresented in aAA patients, compared to ethnicity-matched controls. Patients who inherited the targeted HLA alleles, regardless of HLA mutation status, had a more severe disease course with more frequent clonal complications as assessed by WES, SNP-A, and metaphase cytogenetics, and more frequent secondary MDS. The finding of recurrent HLA class I mutations provides compelling evidence for a predominant HLA class I-driven autoimmunity in aAA, and establishes a novel link between aAA patients' immunogenetics and clonal evolution.

Somatically acquired structural genetic differences

DEFF Research Database (Denmark)

Magaard Koldby, Kristina; Nygaard, Marianne; Christensen, Kaare

2016-01-01

Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested t...... with age.European Journal of Human Genetics advance online publication, 20 April 2016; doi:10.1038/ejhg.2016.34....

Functional abdominal pain syndrome.

Science.gov (United States)

Clouse, Ray E; Mayer, Emeran A; Aziz, Qasim; Drossman, Douglas A; Dumitrascu, Dan L; Mönnikes, Hubert; Naliboff, Bruce D

2006-04-01

Functional abdominal pain syndrome (FAPS) differs from the other functional bowel disorders; it is less common, symptoms largely are unrelated to food intake and defecation, and it has higher comorbidity with psychiatric disorders. The etiology and pathophysiology are incompletely understood. Because FAPS likely represents a heterogeneous group of disorders, peripheral neuropathic pain mechanisms, alterations in endogenous pain modulation systems, or both may be involved in any one patient. The diagnosis of FAPS is made on the basis of positive symptom criteria and a longstanding history of symptoms; in the absence of alarm symptoms, an extensive diagnostic evaluation is not required. Management is based on a therapeutic physician-patient relationship and empirical treatment algorithms using various classes of centrally acting drugs, including antidepressants and anticonvulsants. The choice, dose, and combination of drugs are influenced by psychiatric comorbidities. Psychological treatment options include psychotherapy, relaxation techniques, and hypnosis. Refractory FAPS patients may benefit from a multidisciplinary pain clinic approach.

Executive Functions in Individuals with Williams Syndrome

Science.gov (United States)

Menghini, D.; Addona, F.; Costanzo, F.; Vicari, S.

2010-01-01

Background: The present study was aimed at investigating working memory (WM) and executive functions capacities in individuals with Williams syndrome (WS) as compared with mental-age matched typically developing (TD) children. Method: In order to serve the study goal, a sizeable battery of tasks tapping WM as well as attention, memory, planning,…

Affective functioning and social cognition in Noonan syndrome

NARCIS (Netherlands)

Wingbermühle, P.A.M.; Egger, J.I.M.; Verhoeven, W.M.A.; Burgt, C.J.A.M. van der; Kessels, R.P.C.

2012-01-01

Background. Noonan syndrome (NS) is a common genetic disorder, characterized by short stature, facial dysmorphia, congenital heart defects and a mildly lowered IQ. Impairments in psychosocial functioning have often been suggested, without, however, systematic investigation in a clinical group. In

Cross-Cultural Study of Information Processing Biases in Chronic Fatigue Syndrome: Comparison of Dutch and UK Chronic Fatigue Patients.

Science.gov (United States)

Hughes, Alicia M; Hirsch, Colette R; Nikolaus, Stephanie; Chalder, Trudie; Knoop, Hans; Moss-Morris, Rona

2018-02-01

This study aims to replicate a UK study, with a Dutch sample to explore whether attention and interpretation biases and general attentional control deficits in chronic fatigue syndrome (CFS) are similar across populations and cultures. Thirty eight Dutch CFS participants were compared to 52 CFS and 51 healthy participants recruited from the UK. Participants completed self-report measures of symptoms, functioning, and mood, as well as three experimental tasks (i) visual-probe task measuring attentional bias to illness (somatic symptoms and disability) versus neutral words, (ii) interpretive bias task measuring positive versus somatic interpretations of ambiguous information, and (iii) the Attention Network Test measuring general attentional control. Compared to controls, Dutch and UK participants with CFS showed a significant attentional bias for illness-related words and were significantly more likely to interpret ambiguous information in a somatic way. These effects were not moderated by attentional control. There were no significant differences between the Dutch and UK CFS groups on attentional bias, interpretation bias, or attentional control scores. This study replicated the main findings of the UK study, with a Dutch CFS population, indicating that across these two cultures, people with CFS demonstrate biases in how somatic information is attended to and interpreted. These illness-specific biases appear to be unrelated to general attentional control deficits.

Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome

DEFF Research Database (Denmark)

Storgaard, Filip Holst; Pedersen, Christina Gravgaard; Jensen, Majbritt Lykke

Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome.......Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome....

Dance and Somatic Inquiry in Studios and Community Dance Programs.

Science.gov (United States)

Eddy, Martha Hart

2002-01-01

Addresses pragmatic aspects of somatics in the public sector, investigating the fit of somatics within various institutions and settings, including universities, professional schools, and community programs. The article explores issues such as somatic movement approaches, certification, academic degrees in somatic study, confusions within the…

Patient Health Questionnaire 15 as a generic measure of severity in fibromyalgia syndrome: surveys with patients of three different settings.

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Häuser, Winfried; Brähler, Elmar; Wolfe, Frederick; Henningsen, Peter

2014-04-01

Graduated treatment of patients with functional somatic syndromes (FSS) and fibromyalgia syndrome (FMS) depending on their severity has been recommended by recent guidelines. The Patient Health Questionnaire 15 (PHQ 15) is a validated measure of somatic symptom severity in FSS. We tested the discriminant and transcultural validity of the PHQ 15 as a generic measure of severity in persons with FMS. Persons meeting recognized FMS-criteria of the general German population (N=98), of the US National Data Bank of Rheumatic Diseases (N=440), and of a single German pain medicine center (N=167) completed validated self-report questionnaires on somatic and psychological distress (Polysymptomatic Distress Scale, Patient Health Questionnaire 4), health-related quality of life (HRQOL) (Short Form Health Survey 12 or 36) and disability (Pain Disability Index). In addition, self-reports of working status were assessed in the clinical setting. Overall severity of FMS was defined by PHQ 15 scores: mild (0-9), moderate (10-14) and severe (15-30). Persons with mild, moderate and severe FMS did not differ in age and gender. Irrespective of the setting, persons with severe FMS reported more pain sites, fatigue, depressed mood, impaired HRQOL and disability than persons with moderate or mild FMS. Patients with severe FMS in the NDB and in the German clinical center reported more work-related disability than patients with mild FMS. The PHQ 15 is a valid generic measure of overall severity in FMS. Copyright © 2014 Elsevier Inc. All rights reserved.

Somatic embryogenesis in ferns: a new experimental system.

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Mikuła, Anna; Pożoga, Mariusz; Tomiczak, Karolina; Rybczyński, Jan J

2015-05-01

Somatic embryogenesis has never been reported in ferns. The study showed that it is much easier to evoke the acquisition and expression of embryogenic competence in ferns than in spermatophytes. We discovered that the tree fern Cyathea delgadii offers an effective model for the reproducible and rapid formation of somatic embryos on hormone-free medium. Our study provides cyto-morphological evidence for the single cell origin and development of somatic embryos. Somatic embryogenesis (SE) in both primary and secondary explants was induced on half-strength micro- and macro-nutrients Murashige and Skoog medium without the application of exogenous plant growth regulators, in darkness. The early stage of SE was characterized by sequential perpendicular cell divisions of an individual epidermal cell of etiolated stipe explant. These resulted in the formation of a linear pro-embryo. Later their development resembled that of the zygotic embryo. We defined three morphogenetic stages of fern somatic embryo development: linear, early and late embryonic leaf stage. The transition from somatic embryo to juvenile sporophyte was quick and proceeded without interruption caused by dormancy. Following 9 weeks of culture the efficiency of somatic embryogenesis reached 12-13 embryos per responding explant. Spontaneous formation of somatic embryos and callus production, which improved the effectiveness of the process sevenfold in 10-month-long culture, occurred without subculturing. The tendency for C. delgadii to propagate by SE in vitro makes this species an excellent model for studies relating to asexual embryogenesis and the endogenous hormonal regulation of that process and opens new avenues of experimentation.

Pattern of somatic symptoms in anxiety and depression

International Nuclear Information System (INIS)

Shah, M.

2011-01-01

To determine the pattern of somatic symptoms in anxiety and depressive disorders. Design: Cross Sectional Comparative study Place of Study: Department of Psychiatry Military Hospital Rawalpindi. Duration of Study: From May to November 2002. Patients and Methods: Patients were divided in Group I of anxiety and group II of depression. Fifty patients considered in each group by convenience sampling. The organic basis of their symptoms was ruled out. The patterns of their somatic symptoms and other information like educational and economic status were recorded on Semi Structured Proforma. The patient's diagnosis was made on schedule based ICD-10 research criteria. The severity of anxiety and depression was assessed by using HARS and HDRS respectively. The pattern of somatic symptoms in both groups was then analyzed by the urdu version of Bradford Somatic Inventory. Patterns of somatic complaints were then analyzed by chi square test. Results: Out of 100 patients we placed 50 each in group I (anxiety) and group II (Depression). Males were higher in depression whereas females were higher in anxiety disorder group. P-value for headache was 0.017 while in rest of the somatic symptoms it was insignificant ranging from 0.4 to 1. Conclusion: We found that the patterns of somatic symptoms are present in both the groups of anxiety and depression like symptoms related to musculoskeletal and gastrointestinal system were commonly observed in cases of depression whereas symptoms related to autonomic nervous system and cardiovascular system is more significantly somatized in patients of anxiety. A larger sample is required for further studies to get better results. (author)

Functional Constipation and Constipation-Predominant Irritable Bowel Syndrome in the General Population: Data from the GECCO Study

Directory of Open Access Journals (Sweden)

Paul Enck

2016-01-01

Full Text Available Background. The prevalence of constipation in the (German population has been shown to be 14.9% in a telephone survey, but more detailed data are required to characterize the sociographics and clinical characteristics of persons with different types of functional constipation, either constipation-predominant irritable bowel syndrome (IBS-C or functional constipation with or without meeting Rome criteria. Methods. Of 2239 constipated individuals identified during the telephone interview, 1037 (46.3% were willing to provide a postal address for a questionnaire, of which 589 (56.8% returned the questionnaire, inquiring about sociographic data, clinical symptoms, and health care behavior related to constipation, as well as health-related quality-of-life (SF12. Subgroups of functionally constipated individuals were compared. Results. More than 50% of the respondents reported a somatic comorbid condition and/or regular medication intake that may contribute to constipation. We split the remaining individuals (N=214 into three groups, matching Rome-criteria for IBS (IBS-C, n=64 and for functional constipation (FC-R, n=36 and FC not matching Rome criteria (n=114. Nearly all sociographic and clinical characteristics were equal among them, and all individuals with constipation had similar and lowered QOL on the SF-12 physical health domain, but in IBS-C the scores were also significantly lower in comparison to FC-R and FC, in both the physical health and the mental health domain. Conclusion. Only a fraction of individuals with chronic constipation match Rome criteria for IBS-C or FC, but subgroups do not differ with respect to most other measures except quality-of-life profiles.

Altered functional brain networks in Prader–Willi syndrome

OpenAIRE

Zhang, Yi; Zhao, Heng; Qiu, Siyou; Tian, Jie; Wen, Xiaotong; Miller, Jennifer L.; von Deneen, Karen M.; Zhou, Zhenyu; Gold, Mark S.; Liu, Yijun

2013-01-01

Prader–Willi syndrome (PWS) is a genetic imprinting disorder characterized mainly by hyperphagia and early childhood obesity. Previous functional neuroimaging studies used visual stimuli to examine abnormal activities in the eating-related neural circuitry of patients with PWS. It was found that patients with PWS exhibited both excessive hunger and hyperphagia consistently, even in situations without any food stimulation. In the present study, we employed resting-state functional MRI techniqu...

Fear of acquired immunodeficiency syndrome and fear of other illness in suicide

DEFF Research Database (Denmark)

Aro, A R; Jallinoja, P T; Henriksson, M M

1994-01-01

Suicide victims with fear of acquired immunodeficiency syndrome (AIDS) or other somatic illness were compared for psychosocial and health-related characteristics, triggers and content of fear. Fear of AIDS cases (n = 28), 2% of the 1-year Finnish suicide population (n = 1397), were younger...... and fewer had serious somatic disease (32% vs 64%) compared with cases of fear of other somatic illness. Both groups had more depression, especially major depression (54% and 61% vs 26%), more psychotic disorders (50% and 32% vs 24%) and health care contacts during their final week (61% and 64% vs 36%) than...... other suicides. Suicidal fear of AIDS calls for evaluation of sexual and other risk behaviour, but fear of AIDS was largely generated by the extensive media coverage. Fear of other somatic illness was more diverse in origin and related to illness experiences. Suicidal fear of illness calls...

Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data

DEFF Research Database (Denmark)

Krøigård, Anne Bruun; Thomassen, Mads; Lænkholm, Anne Vibeke

2016-01-01

a comprehensive evaluation using exome sequencing and targeted deep sequencing data of paired tumor-normal samples from five breast cancer patients to evaluate the performance of nine publicly available somatic variant callers: EBCall, Mutect, Seurat, Shimmer, Indelocator, Somatic Sniper, Strelka, VarScan 2...

Expression profiling of AUXIN RESPONSE FACTOR genes during somatic embryogenesis induction in Arabidopsis.

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Wójcikowska, Barbara; Gaj, Małgorzata D

2017-06-01

Extensive modulation of numerous ARF transcripts in the embryogenic culture of Arabidopsis indicates a substantial role of auxin signaling in the mechanism of somatic embryogenesis induction. Somatic embryogenesis (SE) is induced by auxin in plants and auxin signaling is considered to play a key role in the molecular mechanism that controls the embryogenic transition of plant somatic cells. Accordingly, the expression of AUXIN RESPONSE FACTOR (ARF) genes in embryogenic culture of Arabidopsis was analyzed. The study revealed that 14 of the 22 ARFs were transcribed during SE in Arabidopsis. RT-qPCR analysis indicated that the expression of six ARFs (ARF5, ARF6, ARF8, ARF10, ARF16, and ARF17) was significantly up-regulated, whereas five other genes (ARF1, ARF2, ARF3, ARF11, and ARF18) were substantially down-regulated in the SE-induced explants. The activity of ARFs during SE was also monitored with GFP reporter lines and the ARFs that were expressed in areas of the explants engaged in SE induction were detected. A functional test of ARFs transcribed during SE was performed and the embryogenic potential of the arf mutants and overexpressor lines was evaluated. ARFs with a significantly modulated expression during SE coupled with an impaired embryogenic response of the relevant mutant and/or overexpressor line, including ARF1, ARF2, ARF3, ARF5, ARF6, ARF8, and ARF11 were indicated as possibly being involved in SE induction. The study provides evidence that embryogenic induction strongly depends on ARFs, which are key regulators of the auxin signaling. Some clues on the possible functions of the candidate ARFs, especially ARF5, in the mechanism of embryogenic transition are discussed. The results provide guidelines for further research on the auxin-related functional genomics of SE and the developmental plasticity of somatic cells.

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

Science.gov (United States)

Keel, Siobán B.; Scott, Angela; Sanchez-Bonilla, Marilyn; Ho, Phoenix A.; Gulsuner, Suleyman; Pritchard, Colin C.; Abkowitz, Janis L.; King, Mary-Claire; Walsh, Tom; Shimamura, Akiko

2016-01-01

The clinical and histopathological distinctions between inherited versus acquired bone marrow failure and myelodysplastic syndromes are challenging. The identification of inherited bone marrow failure/myelodysplastic syndromes is critical to inform appropriate clinical management. To investigate whether a subset of pediatric and young adults undergoing transplant for aplastic anemia or myelodysplastic syndrome have germline mutations in bone marrow failure/myelodysplastic syndrome genes, we performed a targeted genetic screen of samples obtained between 1990–2012 from children and young adults with aplastic anemia or myelodysplastic syndrome transplanted at the Fred Hutchinson Cancer Research Center. Mutations in inherited bone marrow failure/myelodysplastic syndrome genes were found in 5.1% (5/98) of aplastic anemia patients and 13.6% (15/110) of myelodysplastic syndrome patients. While the majority of mutations were constitutional, a RUNX1 mutation present in the peripheral blood at a 51% variant allele fraction was confirmed to be somatically acquired in one myelodysplastic syndrome patient. This highlights the importance of distinguishing germline versus somatic mutations by sequencing DNA from a second tissue or from parents. Pathological mutations were present in DKC1, MPL, and TP53 among the aplastic anemia cohort, and in FANCA, GATA2, MPL, RTEL1, RUNX1, SBDS, TERT, TINF2, and TP53 among the myelodysplastic syndrome cohort. Family history or physical examination failed to reliably predict the presence of germline mutations. This study shows that while any single specific bone marrow failure/myelodysplastic syndrome genetic disorder is rare, screening for these disorders in aggregate identifies a significant subset of patients with inherited bone marrow failure/myelodysplastic syndrome. PMID:27418648

Behavior and adaptive functioning in adolescents with Down syndrome: specifying targets for intervention.

Science.gov (United States)

Jacola, Lisa M; Hickey, Francis; Howe, Steven R; Esbensen, Anna; Shear, Paula K

2014-01-01

Research suggests that adolescents with Down syndrome experience increased behavior problems as compared to age matched peers; however, few studies have examined how these problems relate to adaptive functioning. The primary aim of this study was to characterize behavior in a sample of adolescents with Down syndrome using two widely-used caregiver reports: the Behavioral Assessment System for Children, 2 nd Edition (BASC-2) and Child Behavioral Checklist (CBCL). The clinical utility of the BASC-2 as a measure of behavior and adaptive functioning in adolescents with Down syndrome was also examined. Fifty-two adolescents with Down syndrome between the ages of 12 and 18 (24 males) completed the Peabody Picture Vocabulary Test, 4 th Edition (PPVT-IV) as an estimate of cognitive ability. Caregivers completed the BASC-2 and the CBCL for each participant. A significant proportion of the sample was reported to demonstrate behavior problems, particularly related to attention and social participation. The profile of adaptive function was variable, with caregivers most frequently rating impairment in skills related to activities of daily living and functional communication. Caregiver ratings did not differ by gender and were not related to age or estimated cognitive ability. Caregiver ratings of attention problems on the BASC-2 accounted for a significant proportion of variance in Activities of Daily Living ( Adj R 2 = 0.30) , Leadership ( Adj R 2 = 0.30) Functional Communication ( Adj R 2 = 0.28, Adaptability ( Adj R 2 = 0.29), and Social Skills ( Adj R 2 = 0.17). Higher frequencies of symptoms related to social withdrawal added incremental predictive validity for Functional Communication, Leadership, and Social Skills. Convergent validity between the CBCL and BASC-2 was poor when compared with expectations based on the normative sample. Our results confirm and extend previous findings by describing relationships between specific behavior problems and targeted areas of

Behavior and adaptive functioning in adolescents with Down syndrome: specifying targets for intervention

Science.gov (United States)

Jacola, Lisa M.; Hickey, Francis; Howe, Steven R.; Esbensen, Anna; Shear, Paula K.

2016-01-01

Background Research suggests that adolescents with Down syndrome experience increased behavior problems as compared to age matched peers; however, few studies have examined how these problems relate to adaptive functioning. The primary aim of this study was to characterize behavior in a sample of adolescents with Down syndrome using two widely-used caregiver reports: the Behavioral Assessment System for Children, 2nd Edition (BASC-2) and Child Behavioral Checklist (CBCL). The clinical utility of the BASC-2 as a measure of behavior and adaptive functioning in adolescents with Down syndrome was also examined. Methods Fifty-two adolescents with Down syndrome between the ages of 12 and 18 (24 males) completed the Peabody Picture Vocabulary Test, 4th Edition (PPVT-IV) as an estimate of cognitive ability. Caregivers completed the BASC-2 and the CBCL for each participant. Results A significant proportion of the sample was reported to demonstrate behavior problems, particularly related to attention and social participation. The profile of adaptive function was variable, with caregivers most frequently rating impairment in skills related to activities of daily living and functional communication. Caregiver ratings did not differ by gender and were not related to age or estimated cognitive ability. Caregiver ratings of attention problems on the BASC-2 accounted for a significant proportion of variance in Activities of Daily Living (Adj R2 = 0.30), Leadership (Adj R2 = 0.30) Functional Communication (Adj R2 = 0.28, Adaptability (Adj R2 = 0.29), and Social Skills (Adj R2 = 0.17). Higher frequencies of symptoms related to social withdrawal added incremental predictive validity for Functional Communication, Leadership, and Social Skills. Convergent validity between the CBCL and BASC-2 was poor when compared with expectations based on the normative sample. Conclusion Our results confirm and extend previous findings by describing relationships between specific behavior problems

Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome

Science.gov (United States)

Cazalets, Jean René; Bestaven, Emma; Doat, Emilie; Baudier, Marie Pierre; Gallot, Cécile; Amestoy, Anouck; Bouvard, Manuel; Guillaud, Etienne; Guillain, Isabelle; Grech, Emelyne; Van-gils, Julien; Fergelot, Patricia; Fraisse, Sonia; Taupiac, Emmanuelle; Arveiler, Benoit; Lacombe, Didier

2017-01-01

Rubinstein-Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing…

The skin function: a factor of anti-metabolic syndrome

Directory of Open Access Journals (Sweden)

Zhou Shi-Sheng

2012-04-01

Full Text Available Abstract The body’s total antioxidant capacity represents a sum of the antioxidant capacity of various tissues/organs. A decrease in the body’s antioxidant capacity may induce oxidative stress and subsequent metabolic syndrome, a clustering of risk factors for type 2 diabetes and cardiovascular disease. The skin, the largest organ of the body, is one of the major components of the body’s total antioxidant defense system, primarily through its xenobiotic/drug biotransformation system, reactive oxygen species-scavenging system, and sweat glands- and sebaceous glands-mediated excretion system. Notably, unlike other contributors, the skin contribution is variable, depending on lifestyles and ambient temperature or seasonal variations. Emerging evidence suggests that decreased skin’s antioxidant and excretory functions (e.g., due to sedentary lifestyles and low ambient temperature may increase the risk for metabolic syndrome. This review focuses on the relationship between the variability of skin-mediated detoxification and elimination of exogenous and endogenous toxic substances and the development of metabolic syndrome. The potential role of sebum secretion in lipid and cholesterol homeostasis and its impact on metabolic syndrome, and the association between skin disorders (acanthosis nigricans, acne, and burn and metabolic syndrome are also discussed.

Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.

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Därr, Roland; Nambuba, Joan; Del Rivero, Jaydira; Janssen, Ingo; Merino, Maria; Todorovic, Milena; Balint, Bela; Jochmanova, Ivana; Prchal, Josef T; Lechan, Ronald M; Tischler, Arthur S; Popovic, Vera; Miljic, Dragana; Adams, Karen T; Prall, F Ryan; Ling, Alexander; Golomb, Meredith R; Ferguson, Michael; Nilubol, Naris; Chen, Clara C; Chew, Emily; Taïeb, David; Stratakis, Constantine A; Fojo, Tito; Yang, Chunzhang; Kebebew, Electron; Zhuang, Zhengping; Pacak, Karel

2016-12-01

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11-46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8-38) and SOMs at 29 years (range 22-38). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel-Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [ 18 F]-fluorodihydroxyphenylalanine ([ 18 F]-FDOPA). Therefore, [ 18 F]-FDOPA PET/CT, not [ 68 Ga]-(DOTA)-[Tyr3]-octreotate ([ 68 Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges. © 2016 Society for Endocrinology.

Wernicke-Korsakoff Syndrome as a Consequence of Delusional Food Refusal: A Case Study.

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Hargrave, David D; Schroeder, Ryan W; Heinrichs, Robin J; Baade, Lyle E

2015-12-01

Wernicke-Korsakoff syndrome is caused by thiamine (vitamin B1) deficiency, typically resulting from malnutrition secondary to chronic alcohol abuse. Less often, other conditions can lead to malnutrition and Wernicke-Korsakoff syndrome. We describe a 35-year-old man who developed Wernicke-Korsakoff syndrome with a typical neurologic and neuropsychological presentation after somatic delusions led him to refuse to eat. Cases like his serve to heighten awareness of the interplay between psychiatric and neurologic conditions, their sometimes atypical pathogenesis, and the value to primary care providers of consulting with psychiatrists, neurologists, and neuropsychologists when managing patients with possible Wernicke-Korsakoff syndrome.

Autonomic nervous system function in young children with functional abdominal pain or irritable bowel syndrome

Science.gov (United States)

Adults with irritable bowel syndrome (IBS) have been reported to have alterations in autonomic nervous system function as measured by vagal activity via heart rate variability. Whether the same is true for children is unknown. We compared young children 7 to 10 years of age with functional abdominal...

Somatic embryogenesis in cassava: A tool for mutation breeding

International Nuclear Information System (INIS)

Lee, K.S.; Duren, M. Van; Morpurgo, R.

1997-01-01

Cassava is an important food and livestock feed crop. The effect of gamma radiation on somatic embryogenesis and plant regeneration in cassava clones of African origin was investigated. Explants from young leaves of cassava were cultured on MS medium, supplemented with 18.1 mM 2,4-D and 2 mM CuSO4, solidified with 0.3% Phytagel. Compact and friable calli were observed after 10-15 days of explant culture in dark, which produced somatic embryos in all but one clone. The somatic embryos showed morphological aberrations, such as fused cotyledons, lack of meristematic tip, epicotyl elongation, and had low germination rate; desiccation of embryos increased germination. Histological study showed that the somatic embryos were of multicellular origin. Leaf explants were irradiated with doses between 4 to 38 Gy of gamma rays, and cultured on somatic embryo induction medium. In addition, somatic embryos were irradiated with gamma ray doses from 10 to 18 Gy, and analyzed for germination. LD 50 for embryogenic response of leaf-explants was at around 20 Gy, while that for somatic embryo germination was ca. 10 Gy. (author). 7 refs, 2 tabs

Somatic embryogenesis in cassava: A tool for mutation breeding

Energy Technology Data Exchange (ETDEWEB)

Lee, K S; Duren, M Van; Morpurgo, R [Agriculture and Biotechnology Laboratory, International Atomic Energy Agency, Seibersdorf (Austria)

1997-07-01

Cassava is an important food and livestock feed crop. The effect of gamma radiation on somatic embryogenesis and plant regeneration in cassava clones of African origin was investigated. Explants from young leaves of cassava were cultured on MS medium, supplemented with 18.1 mM 2,4-D and 2 mM CuSO4, solidified with 0.3% Phytagel. Compact and friable calli were observed after 10-15 days of explant culture in dark, which produced somatic embryos in all but one clone. The somatic embryos showed morphological aberrations, such as fused cotyledons, lack of meristematic tip, epicotyl elongation, and had low germination rate; desiccation of embryos increased germination. Histological study showed that the somatic embryos were of multicellular origin. Leaf explants were irradiated with doses between 4 to 38 Gy of gamma rays, and cultured on somatic embryo induction medium. In addition, somatic embryos were irradiated with gamma ray doses from 10 to 18 Gy, and analyzed for germination. LD{sub 50} for embryogenic response of leaf-explants was at around 20 Gy, while that for somatic embryo germination was ca. 10 Gy. (author). 7 refs, 2 tabs.

Heterogeneity in chronic fatigue syndrome - empirically defined subgroups from the PACE trial.

Science.gov (United States)

Williams, T E; Chalder, T; Sharpe, M; White, P D

2017-06-01

Chronic fatigue syndrome is likely to be a heterogeneous condition. Previous studies have empirically defined subgroups using combinations of clinical and biological variables. We aimed to explore the heterogeneity of chronic fatigue syndrome. We used baseline data from the PACE trial, which included 640 participants with chronic fatigue syndrome. Variable reduction, using a combination of clinical knowledge and principal component analyses, produced a final dataset of 26 variables for 541 patients. Latent class analysis was then used to empirically define subgroups. The most statistically significant and clinically recognizable model comprised five subgroups. The largest, 'core' subgroup (33% of participants), had relatively low scores across all domains and good self-efficacy. A further three subgroups were defined by: the presence of mood disorders (21%); the presence of features of other functional somatic syndromes (such as fibromyalgia or irritable bowel syndrome) (21%); or by many symptoms - a group which combined features of both of the above (14%). The smallest 'avoidant-inactive' subgroup was characterized by physical inactivity, belief that symptoms were entirely physical in nature, and fear that they indicated harm (11%). Differences in the severity of fatigue and disability provided some discriminative validation of the subgroups. In addition to providing further evidence for the heterogeneity of chronic fatigue syndrome, the subgroups identified may aid future research into the important aetiological factors of specific subtypes of chronic fatigue syndrome and the development of more personalized treatment approaches.

Children and adolescents with complex regional pain syndrome: More psychologically distressed than other children in pain?

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Logan, Deirdre E; Williams, Sara E; Carullo, Veronica P; Claar, Robyn Lewis; Bruehl, Stephen; Berde, Charles B

2013-01-01

BACKGROUND Historically, in both adult and pediatric populations, a lack of knowledge regarding complex regional pain syndrome (CRPS) and absence of clear diagnostic criteria have contributed to the view that this is a primarily psychiatric condition. OBJECTIVE: To test the hypothesis that children with CRPS are more functionally disabled, have more pain and are more psychologically distressed than children with other pain conditions. METHODS: A total of 101 children evaluated in a tertiary care pediatric pain clinic who met the International Association for the Study of Pain consensus diagnostic criteria for CRPS participated in the present retrospective study. Comparison groups included 103 children with abdominal pain, 291 with headache and 119 with back pain. Children and parents completed self-report questionnaires assessing disability, somatization, pain coping, depression, anxiety and school attendance. RESULTS: Children with CRPS reported higher pain intensity and more recent onset of pain at the initial tertiary pain clinic evaluation compared with children with other chronic pain conditions. They reported greater functional disability and more somatic symptoms than children with headaches or back pain. Scores on measures of depression and anxiety were within normal limits and similar to those of children in other pain diagnostic groups. CONCLUSIONS: As a group, clinic-referred children with CRPS may be more functionally impaired and experience more somatic symptoms compared with children with other pain conditions. However, overall psychological functioning as assessed by self-report appears to be similar to that of children with other chronic pain diagnoses. Comprehensive assessment using a biopsychosocial framework is essential to understanding and appropriately treating children with symptoms of CRPS. PMID:23662291

Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type

DEFF Research Database (Denmark)

Johannessen, Elise Christine; Reiten, Helle Sundnes; Løvaas, Helene

2016-01-01

Purpose To investigate shoulder function, pain and Health-Related Quality of life (HRQoL) among adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type (JHS/EDS-HT), compared with the general population (controls). Method In a cross-sectional study using postal survey...

EFFECT OF DANCE EXERCISE ON COGNITIVE FUNCTION IN ELDERLY PATIENTS WITH METABOLIC SYNDROME: A PILOT STUDY

OpenAIRE

Sang-Wook Song; Seo-Jin Park; Jung-hyoun Cho; Sung-Goo Kang; Hyun-Kook Lim; Yu-Bae Ahn; Minjeong Kim; Se-Hong Kim

2011-01-01

Metabolic syndrome is associated with an increased risk of cognitive impairment. The purpose of this prospective pilot study was to examine the effects of dance exercise on cognitive function in elderly patients with metabolic syndrome. The participants included 38 elderly metabolic syndrome patients with normal cognitive function (26 exercise group and 12 control group). The exercise group performed dance exercise twice a week for 6 months. Cognitive function was assessed in all participants...

[Efficiency of autogenous training in medical rehabilitation of patients with irritable colon syndrome with constipation dominance].

Science.gov (United States)

Pakhomova, I V; Aĭvazian, T A; Zaĭtsev, V P; Gusakova, E V; Molina, L P

2008-01-01

It was established that use of autogenous training makes possible to increase efficiency of the therapy, leading to considerable more evident improvement of somatic and psychotic state, decrease of pain syndrome. Predictors of efficiency of autogenous training were marked out. Indications for use the method in medical rehabilitation of patients with irritable colon syndrome with constipation dominance were elaborated.

Long-term follow-up of gut-directed hypnotherapy vs. standard care in children with functional abdominal pain or irritable bowel syndrome.

Science.gov (United States)

Vlieger, Arine M; Rutten, Juliette M T M; Govers, Anita M A P; Frankenhuis, Carla; Benninga, Marc A

2012-04-01

We previously showed that gut-directed hypnotherapy (HT) is highly effective in the treatment of children with functional abdominal pain (FAP) and irritable bowel syndrome (IBS). Aim of this follow-up study was to investigate the long-term effects of HT vs. standard medical treatment plus supportive therapy (SMT). All 52 participants of our previous randomized controlled trial (RCT) were invited to complete a standardized abdominal pain diary, on which pain frequency and pain intensity were scored. Furthermore, the Children's Somatization Inventory (CSI) and a general quality of life (QOL) questionnaire were filled out. Clinical remission was defined as > 80% improvement in pain scores compared with baseline. All 27 HT patients and 22 out of 25 SMT patients participated in this study. Two patients of the SMT group were lost to follow-up and one refused to participate. After a mean duration of 4.8 years follow-up (3.4-6.7), HT was still highly superior to conventional therapy with 68 vs. 20% of the patients in remission after treatment (P = 0.005). Pain intensity and pain frequency scores at follow-up were 2.8 and 2.3, respectively, in the HT group compared with 7.3 and 7.1 in the SMT group (P < 0.01). Also, somatization scores were lower in the HT group (15.2 vs. 22.8; P = 0.04). No differences were found in QOL, doctors' visits, and missed days of school or work between the two groups. The beneficial effects of gut-directed HT are long lasting in children with FAP or IBS with two thirds still in remission almost 5 years after treatment, making it a highly valuable therapeutic option.

Sulphur depletion altered somatic embryogenesis in Theobroma ...

African Journals Online (AJOL)

Somatic embryogenesis is a useful tool for Theobroma cacao improvement and propagation. Depending on culture medium composition, different morphogenetic structures (including somatic embryo) occur in response to alteration of genes expression patterns and biochemical changes. The effect of SO42- ion deficiency ...

Neurobiology of Depression and Irritable Bowel Syndrome Comorbidity

Directory of Open Access Journals (Sweden)

Ozlem Donat Eker

2009-08-01

Full Text Available Irritable bowel syndrome is a disabling functional disorder with a frequent comorbidity of depression though underlying mechanisms remain yet little understood. Various signs and symptoms have been determined as diagnostic criteria in recent years and standardized as Rome-III criteria. Irritable bowel syndrome can have constipation-dominant, diarrhea-dominant or mixed clinical presentations. Main features can be summarized as continuous and recurrent abdominal pain or discomfort associated with a change of stool frequency or consistency and usually relief of symptoms with defe-cation in the absence of physical or laboratory abnormalities indicative of an organic etiology. The frequency of major depressive disorder diagnosis reaches up to two thirds of irritable bowel syndrome patients. Moreover, the comorbidity of irritable bowel syndrome among patients with major depression is highly frequent (30%. The mechanism underlying irritable bowel syndrome which have been considered as a kind of a somatization disorder for a long time and now as a functional bowel disease is in the brain-gut axis. Low grade mucosal inflammation and cytokines originating from mucosal inflammation have important functions in the pathophysiology of irritable bowel syndrome and its comorbidity with major depression. Besides the inflammatory factors lumbosacral visceral hyperexcitability which is an individual variation is proposed as the main underlying cause of irritable bowel syndrome. Visceral hyper-excitability is mediated by cytokines and neuro-mediators and stress is known to increase the effect of this mechanism. Furthermore, molecules participating in this mechanism (e.g. cytokines, corticotrophin releasing factor, neurokinins and monoamines play important roles in the pathophysiology of depression. Increased activation in the pain matrix (thalamus – insula – prefrontal cortex and insufficiency of endogenous pain inhibitory system are regarded as possible

Women's health issues with fibromyalgia syndrome.

Science.gov (United States)

Shaver, Joan L F; Wilbur, Joellen; Robinson, F Patrick; Wang, Edward; Buntin, Mary S

2006-11-01

Fibromyalgia syndrome (FMS) involves multiple sensory, somatic, and cognitive symptoms that are bound to affect or be affected by physical and mental health status and behavioral components of daily life. From a telephone survey of 442 women with and 205 women without FMS as volunteers, data were compared on (1) general health status, (2) reproductive and sleep-related diagnoses, and (3) lifestyle health behaviors. All multiple or logistics regression analyses for group differences were controlled for age, body mass index (BMI), race, employment status, marital status, having a college degree, low household income, and having ever been diagnosed with depression, with a Bonferroni p value correction for multiple indicators. Accordingly, FMS negatively impacted both perceived physical and mental health status, although relatively more so for physical (p < 0.017). Women with FMS were more likely to have had reproductive health or sleep-related diagnoses, including premenstrual syndrome, dysmenorrhea, breast cysts, bladder cystitis, sleep apnea, restless leg syndrome, and abnormal leg movements (p < 0.0125). They were calculated to use less than half as many calories per week as control women (689 +/- 1293 vs. 1499 +/- 1584 kcal/week, p < 0.05) and had more sleep pattern difficulties (p < 0.0125), more negative changes in sexual function (greater odds for 5 of 10 indicators at p < 0.005), and lower alcohol use (odds ratio = 0.39, p < 0.05). Patients with FMS deserve careful assessment for reproductive conditions and sleep-related functional disorders. Besides more research into mechanisms underlying symptoms, intervention testing specifically to alleviate sleep problems, low physical activity levels, and sexual dysfunction should be paramount.

Retinal function in deaf-blind syndromes

OpenAIRE

Malm, Eva

2011-01-01

A variety of disorders can cause retinal degeneration and hearing impairment, and it is of great value to have an early diagnosis since there is a large variation in phenotype and prognosis both within and between the different disorders. The general aim of this thesis was to characterize the retinal function, to describe the phenotype, and – where appropriate – to relate the phenotype to genotype in patients with combined visual and hearing impairment. Alström syndrome is a rare auto...

Characteristics of somatic tinnitus patients with and without hyperacusis.

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Massimo Ralli

Full Text Available Determine if somatic tinnitus patients with hyperacusis have different characteristics from those without hyperacusis.172 somatic tinnitus patients with (n = 82 and without (n = 90 hyperacusis referred to the Tinnitus Unit of Sapienza University of Rome between June 2012 and June 2016 were compared for demographic characteristics, tinnitus features, self-administered questionnaire scores, nature of somatic modulation and history.Compared to those without hyperacusis, patients with somatic tinnitus and hyperacusis: (a were older (43.38 vs 39.12 years, p = 0.05, (b were more likely to have bilateral tinnitus (67.08% vs 55.56%, p = 0.04, (c had a higher prevalence of somatic modulation of tinnitus (53.65% vs 36.66%, p = 0.02 and (d scored significantly worse on tinnitus annoyance (39.34 vs 22.81, p<0.001 and subjective hearing level (8.04 vs 1.83, p<0.001.Our study shows significantly higher tinnitus modulation and worse self-rating of tinnitus and hearing ability in somatic tinnitus patients with hyperacusis versus somatic tinnitus patients without hyperacusis. These differences could prove useful in developing a better understanding of the pathophysiology and establishing a course of treatment for these two groups of patients.

Studies on Somatic Embryogenesis in Sweetpotato

Science.gov (United States)

Bennett, J. Rasheed; Prakash, C. S.

1997-01-01

The purpose of this study was to improve the somatic embryo (SE) system for plant production of sweetpotato Ipomoea batatas L.(Lam)l. Explants isolated from SE-derived sweet potato plants were compared with control (non SE-derived) plants for their competency for SE production. Leaf explants were cultured on Murashige-Skoog (MS) medium with 2,4-dichlorophenoxy acetic acid (0.2 mg/L) and 6-benzylaminopurine (2.5 mg/L) for 2 weeks in darkness and transferred to MS medium with abscisic acid (2.5 Explants isolated from those plants developed through somatic embryo-genesis produced new somatic embryos rapidly and in higher frequency than those isolated from control plants. They also appeared to grow faster in tissue culture than the control plants. Current studies in the laboratory are examining whether plants derived from a cyclical embryogenesis system (five cycles) would have any further positive impact on the rapidity and frequency of somatic embryo development. More detailed studies using electron microscopy are expected to show the point of origin of the embryos and to allow determination of their quality throughout the cyclical process. This study may facilitate improved plant micropropagation, gene transfer and germplasm conservation in sweet potato.

Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome.

Science.gov (United States)

Ahn, Do Hee; Rho, Jung Hee; Tchah, Hann; Jeon, In-Sang

2016-01-01

Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.

Hypochondriacal concerns and somatization in panic disorder.

Science.gov (United States)

Furer, P; Walker, J R; Chartier, M J; Stein, M B

1997-01-01

To clarify the relationship between panic disorder and the symptoms of hypochondriasis and somatization, we evaluated these symptoms and diagnoses in patients attending an Anxiety Disorders Clinic. Structured clinical interviews, self-report measures, and symptom diaries were used to assess 21 patients with panic disorder, 23 patients with social phobia, and 22 control subjects with no psychiatric disorders. Ten of the patients with panic disorder (48%) also met DSM-IV criteria for hypochondriasis, whereas only one of the patients with social phobia and none of the healthy control subjects met the criteria for this diagnosis. None of the participants met DSM-IV criteria for somatization disorder, even though both anxiety groups reported high levels of somatic symptoms. The panic disorder group reported higher levels of fear about illness and disease conviction and endorsed more somatic symptoms than did the other groups. A higher proportion of panic disorder patients reported previously diagnosed medical conditions (48%) as compared with patients with social phobia (17%) or healthy control subjects (14%). The panic disorder patients with DSM-IV hypochondriasis obtained higher scores on measures of hypochondriacal concerns, somatization, blood-injury phobia, and general anxiety and distress than did the panic disorder patients without hypochondriasis. The results suggest a strong association between panic disorder and hypochondriasis.

Cryopreservation of Arachis pintoi (leguminosae) somatic embryos.

Science.gov (United States)

Rey, H Y; Faloci, M; Medina, R; Dolce, N; Engelmann, F; Mroginski, L

2013-01-01

In this study, we successfully cryopreserved cotyledonary somatic embryos of diploid and triploid Arachis pintoi cytotypes using the encapsulation-dehydration technique. The highest survival rates were obtained when somatic embryos were encapsulated in calcium alginate beads and precultured in agitated (80 rpm) liquid establishment medium (EM) with daily increasing sucrose concentration (0.50, 0.75, and 1.0 M). The encapsulated somatic embryos were then dehydrated with silica gel for 5 h to 20% moisture content (fresh weight basis) and cooled either rapidly (direct immersion in liquid nitrogen, LN) or slowly (1 degree C per min from 25 degree C to -30 degree C followed by immersion in LN). Beads were kept in LN for a minimum of 1 h and then were rapidly rewarmed in a 30 degree C water-bath for 2 min. Finally, encapsulated somatic embryos were post-cultured in agitated (80 rpm) liquid EM with daily decreasing sucrose concentration (0.75 and 0.5 M) and transferred to solidified EM. Using this protocol, we obtained 26% and 30% plant regeneration from cryopreserved somatic embryos of diploid and triploid cytotypes. No morphological abnormalities were observed in any of the plants regenerated from cryopreserved embryos and their genetic stability was confirmed with 10 isozyme systems and nine RAPD profiles.

Phelan-McDermid syndrome: clinical report of a 70-year-old woman

NARCIS (Netherlands)

Verhoeven, W.M.A.; Egger, J.I.; Cohen-Snuijf, R.; Kant, S.G.; Leeuw, N. de

2013-01-01

Phelan-McDermid or 22q13.3 deletion syndrome is characterized by global intellectual disability, childhood hypotonia, severely delayed or absent speech, features of autism spectrum disorder, without any major dysmorphisms or somatic anomalies. It is typically diagnosed before adolescence and data

Phelan-McDermid syndrome: Clinical report of a 70-year-old woman

NARCIS (Netherlands)

Verhoeven, W.M.A.; Egger, J.I.M.; Cohen-Snuijf, R.; Kant, S.G.; Leeuw, N. de

2013-01-01

PhelanMcDermid or 22q13.3 deletion syndrome is characterized by global intellectual disability, childhood hypotonia, severely delayed or absent speech, features of autism spectrum disorder, without any major dysmorphisms or somatic anomalies. It is typically diagnosed before adolescence and data

Mortality in unipolar depression preceding and following chronic somatic diseases

DEFF Research Database (Denmark)

Koyanagi, A; Köhler-Forsberg, O; Benros, M E

2018-01-01

-varying covariates were constructed to assess the risk for all-cause and non-suicide deaths for individual somatic diseases. RESULTS: For all somatic diseases, prior and/or subsequent depression conferred a significantly higher mortality risk. Prior depression was significantly associated with a higher mortality......OBJECTIVE: It is largely unknown how depression prior to and following somatic diseases affects mortality. Thus, we examined how the temporal order of depression and somatic diseases affects mortality risk. METHOD: Data were from a Danish population-based cohort from 1995 to 2013, which included...... all residents in Denmark during the study period (N = 4 984 912). Nineteen severe chronic somatic disorders from the Charlson Comorbidity Index were assessed. The date of first diagnosis of depression and somatic diseases was identified. Multivariable Cox proportional Hazard models with time...

The Somatic Reproductive Tissues of C. elegans Promote Longevity through Steroid Hormone Signaling

Science.gov (United States)

Yamawaki, Tracy M.; Berman, Jennifer R.; Suchanek-Kavipurapu, Monika; McCormick, Mark; Gaglia, Marta Maria; Lee, Seung-Jae; Kenyon, Cynthia

2010-01-01

In Caenorhabditis elegans and Drosophila melanogaster, removing the germline precursor cells increases lifespan. In worms, and possibly also in flies, this lifespan extension requires the presence of somatic reproductive tissues. How the somatic gonad signals other tissues to increase lifespan is not known. The lifespan increase triggered by loss of the germ cells is known to require sterol hormone signaling, as reducing the activity of the nuclear hormone receptor DAF-12, or genes required for synthesis of the DAF-12 ligand dafachronic acid, prevents germline loss from extending lifespan. In addition to sterol signaling, the FOXO transcription factor DAF-16 is required to extend lifespan in animals that lack germ cells. DAF-12/NHR is known to assist with the nuclear accumulation of DAF-16/FOXO in these animals, yet we find that loss of DAF-12/NHR has little or no effect on the expression of at least some DAF-16/FOXO target genes. In this study, we show that the DAF-12-sterol signaling pathway has a second function to activate a distinct set of genes and extend lifespan in response to the somatic reproductive tissues. When germline-deficient animals lacking somatic reproductive tissues are given dafachronic acid, their expression of DAF-12/NHR-dependent target genes is restored and their lifespan is increased. Together, our findings indicate that in C. elegans lacking germ cells, the somatic reproductive tissues promote longevity via steroid hormone signaling to DAF-12. PMID:20824162

The somatic reproductive tissues of C. elegans promote longevity through steroid hormone signaling.

Directory of Open Access Journals (Sweden)

Tracy M Yamawaki

2010-08-01

Full Text Available In Caenorhabditis elegans and Drosophila melanogaster, removing the germline precursor cells increases lifespan. In worms, and possibly also in flies, this lifespan extension requires the presence of somatic reproductive tissues. How the somatic gonad signals other tissues to increase lifespan is not known. The lifespan increase triggered by loss of the germ cells is known to require sterol hormone signaling, as reducing the activity of the nuclear hormone receptor DAF-12, or genes required for synthesis of the DAF-12 ligand dafachronic acid, prevents germline loss from extending lifespan. In addition to sterol signaling, the FOXO transcription factor DAF-16 is required to extend lifespan in animals that lack germ cells. DAF-12/NHR is known to assist with the nuclear accumulation of DAF-16/FOXO in these animals, yet we find that loss of DAF-12/NHR has little or no effect on the expression of at least some DAF-16/FOXO target genes. In this study, we show that the DAF-12-sterol signaling pathway has a second function to activate a distinct set of genes and extend lifespan in response to the somatic reproductive tissues. When germline-deficient animals lacking somatic reproductive tissues are given dafachronic acid, their expression of DAF-12/NHR-dependent target genes is restored and their lifespan is increased. Together, our findings indicate that in C. elegans lacking germ cells, the somatic reproductive tissues promote longevity via steroid hormone signaling to DAF-12.

Some ethylene biosynthesis and AP2/ERF genes reveal a specific pattern of expression during somatic embryogenesis in Hevea brasiliensis

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Piyatrakul Piyanuch

2012-12-01

Full Text Available Abstract Background Ethylene production and signalling play an important role in somatic embryogenesis, especially for species that are recalcitrant in in vitro culture. The AP2/ERF superfamily has been identified and classified in Hevea brasiliensis. This superfamily includes the ERFs involved in response to ethylene. The relative transcript abundance of ethylene biosynthesis genes and of AP2/ERF genes was analysed during somatic embryogenesis for callus lines with different regeneration potential, in order to identify genes regulated during that process. Results The analysis of relative transcript abundance was carried out by real-time RT-PCR for 142 genes. The transcripts of ERFs from group I, VII and VIII were abundant at all stages of the somatic embryogenesis process. Forty genetic expression markers for callus regeneration capacity were identified. Fourteen markers were found for proliferating calli and 35 markers for calli at the end of the embryogenesis induction phase. Sixteen markers discriminated between normal and abnormal embryos and, lastly, there were 36 markers of conversion into plantlets. A phylogenetic analysis comparing the sequences of the AP2 domains of Hevea and Arabidopsis genes enabled us to predict the function of 13 expression marker genes. Conclusions This first characterization of the AP2/ERF superfamily in Hevea revealed dramatic regulation of the expression of AP2/ERF genes during the somatic embryogenesis process. The gene expression markers of proliferating callus capacity to regenerate plants by somatic embryogenesis should make it possible to predict callus lines suitable to be used for multiplication. Further functional characterization of these markers opens up prospects for discovering specific AP2/ERF functions in the Hevea species for which somatic embryogenesis is difficult.

Recent advancements in cloning by somatic cell nuclear transfer.

Science.gov (United States)

Ogura, Atsuo; Inoue, Kimiko; Wakayama, Teruhiko

2013-01-05

Somatic cell nuclear transfer (SCNT) cloning is the sole reproductive engineering technology that endows the somatic cell genome with totipotency. Since the first report on the birth of a cloned sheep from adult somatic cells in 1997, many technical improvements in SCNT have been made by using different epigenetic approaches, including enhancement of the levels of histone acetylation in the chromatin of the reconstructed embryos. Although it will take a considerable time before we fully understand the nature of genomic programming and totipotency, we may expect that somatic cell cloning technology will soon become broadly applicable to practical purposes, including medicine, pharmaceutical manufacturing and agriculture. Here we review recent progress in somatic cell cloning, with a special emphasis on epigenetic studies using the laboratory mouse as a model.

Recent advancements in cloning by somatic cell nuclear transfer

Science.gov (United States)

Ogura, Atsuo; Inoue, Kimiko; Wakayama, Teruhiko

2013-01-01

Somatic cell nuclear transfer (SCNT) cloning is the sole reproductive engineering technology that endows the somatic cell genome with totipotency. Since the first report on the birth of a cloned sheep from adult somatic cells in 1997, many technical improvements in SCNT have been made by using different epigenetic approaches, including enhancement of the levels of histone acetylation in the chromatin of the reconstructed embryos. Although it will take a considerable time before we fully understand the nature of genomic programming and totipotency, we may expect that somatic cell cloning technology will soon become broadly applicable to practical purposes, including medicine, pharmaceutical manufacturing and agriculture. Here we review recent progress in somatic cell cloning, with a special emphasis on epigenetic studies using the laboratory mouse as a model. PMID:23166393

Masked depression: its interrelations with somatization, hypochondriasis and conversion.

Science.gov (United States)

Fisch, R Z

1987-01-01

Masked depression appears to be a common clinical phenomenon. Most depressions present with some somatic complaints in addition to affective and cognitive ones. About one half of all depressions seen by primary care physicians initially present predominantly or exclusively with somatic symptoms. Many of these depressions are not recognized or are misdiagnosed and mistreated. The possible reasons for this are discussed here. The phenomenon of somatization in depressions and other conditions is reviewed and the interface with other related clinical problems like hypochondriasis and conversion is delineated. It is hypothesized that the proportion of depressions that are masked is positively correlated to the patients' tendency to somatize and negatively correlated to the doctors' ability to recognize depressions that hide behind somatic complaints. Suggestions for the diagnosis and treatment of masked depressions are given.

Optimization of somatic embryogenesis procedure for commercial ...

African Journals Online (AJOL)

The first objective of this study was to assess and optimize somatic embryo production in a genetically diverse range of cacao genotypes. The primary and secondary somatic embryogenesis response of eight promising cacao clones and a positive control was evaluated using modified versions of standard protocols.

The somatic marker theory in the context of addiction: contributions to understanding development and maintenance

Directory of Open Access Journals (Sweden)

Olsen VV

2015-07-01

Full Text Available Vegard V Olsen,1 Ricardo G Lugo,1 Stefan Sütterlin1,2 1Section of Psychology, Lillehammer University College, Lillehammer, 2Department of Psychosomatic Medicine, Division of Surgery and Clinical Neuroscience, Oslo University Hospital – Rikshospitalet, Oslo, Norway Abstract: Recent theoretical accounts of addiction have acknowledged that addiction to substances and behaviors share inherent similarities (eg, insensitivity to future consequences and self-regulatory deficits. This recognition is corroborated by inquiries into the neurobiological correlates of addiction, which has indicated that different manifestations of addictive pathology share common neural mechanisms. This review of the literature will explore the feasibility of the somatic marker hypothesis as a unifying explanatory framework of the decision-making deficits that are believed to be involved in addiction development and maintenance. The somatic marker hypothesis provides a neuroanatomical and cognitive framework of decision making, which posits that decisional processes are biased toward long-term prospects by emotional marker signals engendered by a neuronal architecture comprising both cortical and subcortical circuits. Addicts display markedly impulsive and compulsive behavioral patterns that might be understood as manifestations of decision-making processes that fail to take into account the long-term consequences of actions. Evidence demonstrates that substance dependence, pathological gambling, and Internet addiction are characterized by structural and functional abnormalities in neural regions, as outlined by the somatic marker hypothesis. Furthermore, both substance dependents and behavioral addicts show similar impairments on a measure of decision making that is sensitive to somatic marker functioning. The decision-making deficits that characterize addiction might exist a priori to addiction development; however, they may be worsened by ingestion of substances with

Bovine somatic cell nuclear transfer.

Science.gov (United States)

Ross, Pablo J; Cibelli, Jose B

2010-01-01

Somatic cell nuclear transfer (SCNT) is a technique by which the nucleus of a differentiated cell is introduced into an oocyte from which its genetic material has been removed by a process called enucleation. In mammals, the reconstructed embryo is artificially induced to initiate embryonic development (activation). The oocyte turns the somatic cell nucleus into an embryonic nucleus. This process is called nuclear reprogramming and involves an important change of cell fate, by which the somatic cell nucleus becomes capable of generating all the cell types required for the formation of a new individual, including extraembryonic tissues. Therefore, after transfer of a cloned embryo to a surrogate mother, an offspring genetically identical to the animal from which the somatic cells where isolated, is born. Cloning by nuclear transfer has potential applications in agriculture and biomedicine, but is limited by low efficiency. Cattle were the second mammalian species to be cloned after Dolly the sheep, and it is probably the most widely used species for SCNT experiments. This is, in part due to the high availability of bovine oocytes and the relatively higher efficiency levels usually obtained in cattle. Given the wide utilization of this species for cloning, several alternatives to this basic protocol can be found in the literature. Here we describe a basic protocol for bovine SCNT currently being used in our laboratory, which is amenable for the use of the nuclear transplantation technique for research or commercial purposes.

Randomised controlled trial of colostrum to improve intestinal function in patients with short bowel syndrome

DEFF Research Database (Denmark)

Lund, Pernille; Sangild, Per Torp; Aunsholt, L.

2012-01-01

Colostrum is rich in immunoregulatory, antimicrobial and trophic components supporting intestinal development and function in newborns. We assessed whether bovine colostrum could enhance intestinal adaptation and function in adult short bowel syndrome (SBS) patients.......Colostrum is rich in immunoregulatory, antimicrobial and trophic components supporting intestinal development and function in newborns. We assessed whether bovine colostrum could enhance intestinal adaptation and function in adult short bowel syndrome (SBS) patients....

Urological symptoms in a subset of patients with urological chronic pelvic pain syndrome and a polysymptomatic, polysyndromic pattern of presentation.

Science.gov (United States)

Lai, H Henry; North, Carol S; Andriole, Gerald L; Cupps, Lori; Song, David; Ness, Timothy J; Hong, Barry A

2014-06-01

We characterized urological symptoms in a subset of patients with urological chronic pelvic pain syndrome who have a high somatic symptom burden and a wide symptom distribution fitting a polysymptomatic, polysyndromic presentation pattern. A total of 81 patients with urological chronic pelvic pain syndrome enrolled in the National Institute of Diabetes and Digestive and Kidney Diseases MAPP Research Network Study at Washington University in St. Louis and University of Alabama at Birmingham sites. They completed a symptom questionnaire to assess the somatic symptom burden and its distribution, and GUPI (Genitourinary Pain Index) to assess urological chronic pelvic pain syndrome symptoms, impact on quality of life and self-reported treatment seeking behaviors for urological chronic pelvic pain symptoms. The polysymptomatic, polysyndromic symptom pattern was defined by self-report of numerous painful and nonpainful somatic symptoms across many organ systems and by symptom categories on the polysymptomatic, polysyndromic questionnaire. Patients with urological chronic pelvic pain syndrome and the symptom pattern reported more severe genitourinary pain on a Likert scale, more frequent pain in the last week and more widespread pain distribution in the genital and pelvic areas than patients with urological chronic pelvic pain syndrome without the pattern. Patients with the symptom pattern also had significantly higher scores on the GUPI pain subscale, quality of life subscale (worse) and total questionnaire scores than patients without the pattern. Patients with the pattern reported significantly more treatment seeking behavior than others. The polysymptomatic, polysyndromic pattern might be an important phenotypic factor to assess in the evaluation of urological chronic pelvic pain syndrome with clinical and research implications. This may be a distinct clinical subgroup among patients with urological chronic pelvic pain syndrome. Copyright © 2014 American Urological

Somatic delusions and obsessive-compulsive disorder in ...

African Journals Online (AJOL)

The patient was later referred to the psychiatry department of the same hospital and diagnosed with schizophrenia with somatic delusions and OCS according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. He was screened for schizophrenia, OCS and olfactory and somatic delusions by ...

Somatic Embryogenesis: Still a Relevant Technique in Citrus Improvement.

Science.gov (United States)

Omar, Ahmad A; Dutt, Manjul; Gmitter, Frederick G; Grosser, Jude W

2016-01-01

The genus Citrus contains numerous fresh and processed fruit cultivars that are economically important worldwide. New cultivars are needed to battle industry threatening diseases and to create new marketing opportunities. Citrus improvement by conventional methods alone has many limitations that can be overcome by applications of emerging biotechnologies, generally requiring cell to plant regeneration. Many citrus genotypes are amenable to somatic embryogenesis, which became a key regeneration pathway in many experimental approaches to cultivar improvement. This chapter provides a brief history of plant somatic embryogenesis with focus on citrus, followed by a discussion of proven applications in biotechnology-facilitated citrus improvement techniques, such as somatic hybridization, somatic cybridization, genetic transformation, and the exploitation of somaclonal variation. Finally, two important new protocols that feature plant regeneration via somatic embryogenesis are provided: protoplast transformation and Agrobacterium-mediated transformation of embryogenic cell suspension cultures.

Functional neuroimaging in Tourette syndrome: recent perspectives

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Debes NM

2017-04-01

Full Text Available Nanette Mol Debes, Marie Préel, Liselotte Skov Pediatric Department, Tourette Clinic, Herlev University Hospital, Herlev, DenmarkAbstract: The most recent functional neuroimaging studies on Tourette syndrome (TS are reviewed in this paper. Although it can be difficult to compare functional neuroimaging studies due to differences in methods, differences in age of the included subjects, and differences in the extent to which the presence of comorbidity, medical treatment, and severity of tics are considered in the various studies; most studies show that the cortico-striato-thalamo-cortical circuit seems to be involved in the generation of tics. Changes in this circuit seem to be correlated with tic severity. Correlations have been found between the presence of tics and hypermetabolism in various brain regions. Abnormalities of GABAergic, serotonergic, and dopaminergic neurotransmission in patients with TS have been suggested. During tic suppression, increased activity in the inferior frontal gyrus is seen. The premotor cortex might be involved in inhibition of motor control in subjects with TS. The right anterior insula is suggested to be a part of the urge–tic network. Several studies have shown altered motor network activations and sensorimotor gating deficits in subjects with TS. In future studies, inclusion of more well-defined subjects and further examination of premonitory urge and tic suppression is needed in order to increase the knowledge about the pathophysiology and treatment possibilities of TS. Keywords: functional neuroimaging, Tourette syndrome

The relation between the patient health questionnaire-15 and DSM somatic diagnoses

Directory of Open Access Journals (Sweden)

Shih-Cheng Liao

2016-10-01

evaluating somatic symptom and related disorders. The preponderance of somatic symptom disorder in our sample, lack of evaluation of functional disorders, and recruitment solely from psychiatric clinics are possible limitations.

Anxiety, depression, and somatization in DSM-III hypochondriasis.

Science.gov (United States)

Kellner, R; Abbott, P; Winslow, W W; Pathak, D

1989-01-01

To assess the severity of distress and of somatization in hypochondriasis, the authors administered several validated self-rating scales of depression, anxiety, somatic symptoms, and anger/hostility to 21 psychiatric outpatients with the DSM-III diagnosis of hypochondriasis and to matched groups of other nonpsychotic psychiatric patients, family practice patients, and employees. Anxiety and somatic symptoms were highest in hypochondriacal patients; depression and anger/hostility did not differ from those of other psychiatric patients but were higher than in the other groups. The findings do not support the theory that hypochondriasis is a defense against anxiety or that it is a masked depression or depressive equivalent. The findings are consistent with the view that the interaction of severe anxiety and severe somatic symptoms is a common feature of the psychopathology of hypochondriasis.

Immunomodulation of enteric neural function in irritable bowel syndrome

OpenAIRE

O’Malley, Dervla

2015-01-01

Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder which is characterised by symptoms such as bloating, altered bowel habit and visceral pain. It’s generally accepted that miscommunication between the brain and gut underlies the changes in motility, absorpto-secretory function and pain sensitivity associated with IBS. However, partly due to the lack of disease-defining biomarkers, understanding the aetiology of this complex and multifactorial disease remains elusi...

Identification of somatic mutations in postmortem human brains by whole genome sequencing and their implications for psychiatric disorders.

Science.gov (United States)

Nishioka, Masaki; Bundo, Miki; Ueda, Junko; Katsuoka, Fumiki; Sato, Yukuto; Kuroki, Yoko; Ishii, Takao; Ukai, Wataru; Murayama, Shigeo; Hashimoto, Eri; Nagasaki, Masao; Yasuda, Jun; Kasai, Kiyoto; Kato, Tadafumi; Iwamoto, Kazuya

2018-04-01

Somatic mutations in the human brain are hypothesized to contribute to the functional diversity of brain cells as well as the pathophysiology of neuropsychiatric diseases. However, there are still few reports on somatic mutations in non-neoplastic human brain tissues. This study attempted to unveil the landscape of somatic mutations in the human brain. We explored the landscape of somatic mutations in human brain tissues derived from three individuals with no neuropsychiatric diseases by whole-genome deep sequencing at a depth of around 100. The candidate mutations underwent multi-layered filtering, and were validated by ultra-deep target amplicon sequencing at a depth of around 200 000. Thirty-one somatic mutations were identified in the human brain, demonstrating the utility of whole-genome sequencing of bulk brain tissue. The mutations were enriched in neuron-expressed genes, and two-thirds of the identified somatic single nucleotide variants in the brain tissues were cytosine-to-thymine transitions, half of which were in CpG dinucleotides. Our developed filtering and validation approaches will be useful to identify somatic mutations in the human brain. The vulnerability of neuron-expressed genes to mutational events suggests their potential relevance to neuropsychiatric diseases. © 2017 The Authors. Psychiatry and Clinical Neurosciences published by John Wiley & Sons Australia, Ltd on behalf of Japanese Society of Psychiatry and Neurology.

Systemic Inflammation and Lung Function Impairment in Morbidly Obese Subjects with the Metabolic Syndrome

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Astrid van Huisstede

2013-01-01

Full Text Available Background. Obesity and asthma are associated. There is a relationship between lung function impairment and the metabolic syndrome. Whether this relationship also exists in the morbidly obese patients is still unknown. Hypothesis. Low-grade systemic inflammation associated with the metabolic syndrome causes inflammation in the lungs and, hence, lung function impairment. Methods. This is cross-sectional study of morbidly obese patients undergoing preoperative screening for bariatric surgery. Metabolic syndrome was assessed according to the revised NCEP-ATP III criteria. Results. A total of 452 patients were included. Patients with the metabolic syndrome (n=293 had significantly higher blood monocyte (mean 5.3 versus 4.9, P=0.044 and eosinophil percentages (median 1.0 versus 0.8, P=0.002, while the total leukocyte count did not differ between the groups. The FEV1/FVC ratio was significantly lower in patients with the metabolic syndrome (76.7% versus 78.2%, P=0.032. Blood eosinophils were associated with FEV1/FVC ratio (adj. B −0.113, P=0.018. Conclusion. Although the difference in FEV1/FVC ratio between the groups is relatively small, in this cross-sectional study, and its clinical relevance may be limited, these data indicate that the presence of the metabolic syndrome may influence lung function impairment, through the induction of relative eosinophilia.

In vivo and in vitro functional characterization of Andersen's syndrome mutations.

Science.gov (United States)

Bendahhou, Saïd; Fournier, Emmanuel; Sternberg, Damien; Bassez, Guillaume; Furby, Alain; Sereni, Carole; Donaldson, Matthew R; Larroque, Marie-Madeleine; Fontaine, Bertrand; Barhanin, Jacques

2005-06-15

The inward rectifier K(+) channel Kir2.1 carries all Andersen's syndrome mutations identified to date. Patients exhibit symptoms of periodic paralysis, cardiac dysrhythmia and multiple dysmorphic features. Here, we report the clinical manifestations found in three families with Andersen's syndrome. Molecular genetics analysis identified two novel missense mutations in the KCNJ2 gene leading to amino acid changes C154F and T309I of the Kir2.1 open reading frame. Patch clamp experiments showed that the two mutations produced a loss of channel function. When co-expressed with Kir2.1 wild-type (WT) channels, both mutations exerted a dominant-negative effect leading to a loss of the inward rectifying K(+) current. Confocal microscopy imaging in HEK293 cells is consistent with a co-assembly of the EGFP-fused mutant proteins with WT channels and proper traffick to the plasma membrane to produce silent channels alone or as hetero-tetramers with WT. Functional expression in C2C12 muscle cell line of newly as well as previously reported Andersen's syndrome mutations confirmed that these mutations act through a dominant-negative effect by altering channel gating or trafficking. Finally, in vivo electromyographic evaluation showed a decrease in muscle excitability in Andersen's syndrome patients. We hypothesize that Andersen's syndrome-associated mutations and hypokalaemic periodic paralysis-associated calcium channel mutations may lead to muscle membrane hypoexcitability via a common mechanism.

Annual Costs of Care for Pediatric Irritable Bowel Syndrome, Functional Abdominal Pain, and Functional Abdominal Pain Syndrome.

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Hoekman, Daniël R; Rutten, Juliette M T M; Vlieger, Arine M; Benninga, Marc A; Dijkgraaf, Marcel G W

2015-11-01

To estimate annual medical and nonmedical costs of care for children diagnosed with irritable bowel syndrome (IBS) or functional abdominal pain (syndrome; FAP/FAPS). Baseline data from children with IBS or FAP/FAPS who were included in a multicenter trial (NTR2725) in The Netherlands were analyzed. Patients' parents completed a questionnaire concerning usage of healthcare resources, travel costs, out-of-pocket expenses, productivity loss of parents, and supportive measures at school. Use of abdominal pain related prescription medication was derived from case reports forms. Total annual costs per patient were calculated as the sum of direct and indirect medical and nonmedical costs. Costs of initial diagnostic investigations were not included. A total of 258 children, mean age 13.4 years (±5.5), were included, and 183 (70.9%) were female. Total annual costs per patient were estimated to be €2512.31. Inpatient and outpatient healthcare use were major cost drivers, accounting for 22.5% and 35.2% of total annual costs, respectively. Parental productivity loss accounted for 22.2% of total annual costs. No difference was found in total costs between children with IBS or FAP/FAPS. Pediatric abdominal pain related functional gastrointestinal disorders impose a large economic burden on patients' families and healthcare systems. More than one-half of total annual costs of IBS and FAP/FAPS consist of inpatient and outpatient healthcare use. Netherlands Trial Registry: NTR2725. Copyright © 2015 Elsevier Inc. All rights reserved.

Germline contamination and leakage in whole genome somatic single nucleotide variant detection.

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Sendorek, Dorota H; Caloian, Cristian; Ellrott, Kyle; Bare, J Christopher; Yamaguchi, Takafumi N; Ewing, Adam D; Houlahan, Kathleen E; Norman, Thea C; Margolin, Adam A; Stuart, Joshua M; Boutros, Paul C

2018-01-31

The clinical sequencing of cancer genomes to personalize therapy is becoming routine across the world. However, concerns over patient re-identification from these data lead to questions about how tightly access should be controlled. It is not thought to be possible to re-identify patients from somatic variant data. However, somatic variant detection pipelines can mistakenly identify germline variants as somatic ones, a process called "germline leakage". The rate of germline leakage across different somatic variant detection pipelines is not well-understood, and it is uncertain whether or not somatic variant calls should be considered re-identifiable. To fill this gap, we quantified germline leakage across 259 sets of whole-genome somatic single nucleotide variant (SNVs) predictions made by 21 teams as part of the ICGC-TCGA DREAM Somatic Mutation Calling Challenge. The median somatic SNV prediction set contained 4325 somatic SNVs and leaked one germline polymorphism. The level of germline leakage was inversely correlated with somatic SNV prediction accuracy and positively correlated with the amount of infiltrating normal cells. The specific germline variants leaked differed by tumour and algorithm. To aid in quantitation and correction of leakage, we created a tool, called GermlineFilter, for use in public-facing somatic SNV databases. The potential for patient re-identification from leaked germline variants in somatic SNV predictions has led to divergent open data access policies, based on different assessments of the risks. Indeed, a single, well-publicized re-identification event could reshape public perceptions of the values of genomic data sharing. We find that modern somatic SNV prediction pipelines have low germline-leakage rates, which can be further reduced, especially for cloud-sharing, using pre-filtering software.

Depression masquerading as chest pain in a patient with Wolff Parkinson White syndrome

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Madabushi, Rajashree; Agarwal, Anil; Gautam, Sujeet K S; Khuba, Sandeep

2016-01-01

Wolff Parkinson White (WPW) syndrome is a condition in which there is an aberrant conduction pathway between the atria and ventricles, resulting in tachycardia. A 42-year-old patient, who was treated for WPW syndrome previously, presented with chronic somatic pain. With her cardiac condition in mind, she was thoroughly worked up for a recurrence of disease. As part of routine screening of all patients at our pain clinic, she was found to have severe depression as per the Patient Health Questionnaire–9 (PHQ–9) criteria. After ruling out sinister causes, she was treated for depression using oral Duloxetine and counselling. This led to resolution of symptoms, and improved her mood and functional capability. This case highlights the use of psychological screening tools and diligent examination in scenarios as confusing as the one presented here. Addressing the psychological aspects of pain and adopting a holistic approach are as important as treatment of the primary pathology. PMID:27738505

Is chronic pain associated with somatization/hypochondriasis? An evidence-based structured review.

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Fishbain, David A; Lewis, John E; Gao, Jinrun; Cole, Brandly; Steele Rosomoff, R

2009-01-01

This is an evidence-based structured review. The objectives of this review were to answer the following questions: (1) Are somatization/hypochondriasis associated with chronic pain? (2) Is the degree of somatization/hypochondriasis related to pain levels? (3) Does pain treatment improve somatization/hypochondriasis? (4) Are some pain diagnoses differentially associated with somatization/hypochondriasis? Fifty-seven studies which fulfilled inclusion criteria and had high quality scores were sorted by the above-mentioned objectives. Agency for health care policy and research guidelines were utilized to type and characterize the strength/consistency of the study evidence within each objective. Somatization and hypochondriasis were both consistently associated with chronic pain (consistency ratings B and A, respectively). Study evidence indicated a correlation between pain intensity and presence of somatization and hypochondriasis (consistency rating A and B, respectively). Pain treatment improved somatization and hypochondriasis (consistency rating B and A, respectively). Some chronic pain diagnostic groups somatized more (consistency rating B). Somatization is commonly associated with chronic pain and may relate to pain levels.

Local anesthesia selection algorithm in patients with concomitant somatic diseases.

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Anisimova, E N; Sokhov, S T; Letunova, N Y; Orekhova, I V; Gromovik, M V; Erilin, E A; Ryazantsev, N A

2016-01-01

The paper presents basic principles of local anesthesia selection in patients with concomitant somatic diseases. These principles are history taking; analysis of drugs interaction with local anesthetic and sedation agents; determination of the functional status of the patient; patient anxiety correction; dental care with monitoring of hemodynamics parameters. It was found that adhering to this algorithm promotes prevention of urgent conditions in patients in outpatient dentistry.

Efficacy of isokinetic exercise on functional capacity and pain in patellofemoral pain syndrome.

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Alaca, Ridvan; Yilmaz, Bilge; Goktepe, A Salim; Mohur, Haydar; Kalyon, Tunc Alp

2002-11-01

To assess the effect of an isokinetic exercise program on symptoms and functions of patients with patellofemoral pain syndrome. A total of 22 consecutive patients with the complaint of anterior knee pain who met the inclusion criteria were recruited to assess the efficacy of isokinetic exercise on functional capacity, isokinetic parameters, and pain scores in patients with patellofemoral pain syndrome. A total of 37 knees were examined. Six-meter hopping, three-step hopping, and single-limb hopping course tests were performed for each patient with the measurements of the Lysholm scale and visual analog scale. Tested parameters were peak torque, total work, average power, and endurance ratios. Statistical analyses revealed that at the end of the 6-wk treatment period, functional and isokinetic parameters improved significantly, as did pain scores. There was not statistically significant correlation between different groups of parameters. The isokinetic exercise treatment program used in this study prevented the extensor power loss due to patellofemoral pain syndrome, but the improvement in the functional capacity was not correlated with the gained power.

Clinical significance of acquired somatic mutations in aplastic anaemia.

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Marsh, J C W; Mufti, G J

2016-08-01

Aplastic anaemia (AA) is frequently associated with other disorders of clonal haemopoiesis such as paroxysmal nocturnal haemoglobinuria (PNH), myelodysplastic syndrome (MDS) and T-large granular lymphocytosis. Certain clones may escape the immune attack within the bone marrow environment and proliferate and attain a survival advantage over normal haemopoietic stem cells, such as trisomy 8, loss of heterozygosity of short arm of chromosome 6 and del13q clones. Recently acquired somatic mutations (SM), excluding PNH clones, have been reported in around 20-25 % of patients with AA, which predispose to a higher risk of later malignant transformation to MDS/acute myeloid leukaemia. Furthermore, certain SM, such as ASXL1 and DNMT3A are associated with poor survival following immunosuppressive therapy, whereas PIGA, BCOR/BCORL1 predict for good response and survival. Further detailed and serial analysis of the immune signature in AA is needed to understand the pathogenetic basis for the presence of clones with SM in a significant proportion of patients.

Spontaneous Pregnancy and Partial Recovery of Pituitary Function in a Patient with Sheehan's Syndrome

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Ting-Ting See

2005-04-01

Full Text Available Sheehan's syndrome is caused by pregnancy-related hemorrhage leading to ischemic necrosis of the anterior pituitary gland and hypopituitarism. Spontaneous pregnancy in Sheehan's syndrome is very rare. We report the case of a patient with Sheehan's syndrome who suffered from anterior pituitary insufficiency, but with sparing of gonadotropic function. The patient became pregnant spontaneously and, after her second delivery, thyrotropic function recovered. However, the patient's growth hormone and cortisol levels remained unresponsive to an insulin-tolerance test. This case demonstrates that pituitary function may recover from less extensive pituitary ischemia. We emphasize the importance of early identification of pregnancy in such cases. It is crucial to institute adequate hormone-replacement therapy during pregnancy, since hypopituitarism is associated with high fetal and maternal morbidity and mortality.

Personality traits influencing somatization symptoms and social inhibition in the elderly

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Wongpakaran T

2014-01-01

Full Text Available Tinakon Wongpakaran, Nahathai WongpakaranFaculty of Medicine, Chiang Mai University, Chiang Mai, ThailandPurpose: Somatization is a common symptom among the elderly, and even though personality disorders have been found to be associated with somatization, personality traits have not yet been explored with regard to this symptom. The aim of this study is to investigate the relationship between personality traits and somatization, and social inhibition.Patients and methods: As part of a cross-sectional study of a community sample, 126 elderly Thais aged 60 years or over completed self-reporting questionnaires related to somatization and personality traits. Somatization was elicited from the somatization subscale when using the Symptom Checklist SCL-90 instrument. Personality traits were drawn from the 16 Personality Factor Questionnaire and social inhibition was identified when using the inventory of interpersonal problems. In addition, path analysis was used to establish the influence of personality traits on somatization and social inhibition.Results: Of the 126 participants, 51% were male, 55% were married, and 25% were retired. The average number of years in education was 7.6 (standard deviation =5.2. “Emotional stability” and “dominance” were found to have a direct effect on somatization, as were age and number of years in education, but not sex. Also, 35% of the total variance could be explained by the model, with excellent fit statistics. Dominance was found to have an indirect effect, via vigilance, on social inhibition, which was also influenced by number of years in education and emotional stability. Social inhibition was not found to have any effect on somatization, although hypothetically it should.Conclusion: “Emotional stability”, “dominance”, and “vigilance”, as well as age and the number of years in education, were found to have an effect on somatization. Attention should be paid to these factors in the elderly

Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia.

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Yoshizato, Tetsuichi; Dumitriu, Bogdan; Hosokawa, Kohei; Makishima, Hideki; Yoshida, Kenichi; Townsley, Danielle; Sato-Otsubo, Aiko; Sato, Yusuke; Liu, Delong; Suzuki, Hiromichi; Wu, Colin O; Shiraishi, Yuichi; Clemente, Michael J; Kataoka, Keisuke; Shiozawa, Yusuke; Okuno, Yusuke; Chiba, Kenichi; Tanaka, Hiroko; Nagata, Yasunobu; Katagiri, Takamasa; Kon, Ayana; Sanada, Masashi; Scheinberg, Phillip; Miyano, Satoru; Maciejewski, Jaroslaw P; Nakao, Shinji; Young, Neal S; Ogawa, Seishi

2015-07-02

In patients with acquired aplastic anemia, destruction of hematopoietic cells by the immune system leads to pancytopenia. Patients have a response to immunosuppressive therapy, but myelodysplastic syndromes and acute myeloid leukemia develop in about 15% of the patients, usually many months to years after the diagnosis of aplastic anemia. We performed next-generation sequencing and array-based karyotyping using 668 blood samples obtained from 439 patients with aplastic anemia. We analyzed serial samples obtained from 82 patients. Somatic mutations in myeloid cancer candidate genes were present in one third of the patients, in a limited number of genes and at low initial variant allele frequency. Clonal hematopoiesis was detected in 47% of the patients, most frequently as acquired mutations. The prevalence of the mutations increased with age, and mutations had an age-related signature. DNMT3A-mutated and ASXL1-mutated clones tended to increase in size over time; the size of BCOR- and BCORL1-mutated and PIGA-mutated clones decreased or remained stable. Mutations in PIGA and BCOR and BCORL1 correlated with a better response to immunosuppressive therapy and longer and a higher rate of overall and progression-free survival; mutations in a subgroup of genes that included DNMT3A and ASXL1 were associated with worse outcomes. However, clonal dynamics were highly variable and might not necessarily have predicted the response to therapy and long-term survival among individual patients. Clonal hematopoiesis was prevalent in aplastic anemia. Some mutations were related to clinical outcomes. A highly biased set of mutations is evidence of Darwinian selection in the failed bone marrow environment. The pattern of somatic clones in individual patients over time was variable and frequently unpredictable. (Funded by Grant-in-Aid for Scientific Research and others.).

Optimization of somatic embryogenesis induction in Iranian melon ...

African Journals Online (AJOL)

Jane

2011-07-11

Jul 11, 2011 ... embryo induction and the combination of 0.1 mg/l BA and 5 mg/l 2,4-D had significant effect on somatic ... such as genotype, growth regulator, explant and culture ... different stages of somatic embryos development. (globular ...

Induction of somatic embryogenesis by polyethylene glycol and ...

African Journals Online (AJOL)

VIJI

2012-06-05

Jun 5, 2012 ... supplemented with 2,4-D (2 µM), abscisic acid (3 µM) and glutamine (0.03 mM). The somatic embryos ... essential amino acids of seed proteins, shortened vegetative ... or somatic embryo maturation in diverse plants such as.

[Burnout syndrome: diagnosis, principles of treatment, prophylaxis].

Science.gov (United States)

Ovchinnikov, Yu V; Palchenkova, M V; Kalachev, O V

2015-07-01

Burnout syndrome is a socio-psychological phenomenon of emotional, motivational, and physical exhaustion as a result of chronic occupational stress. It is manifested as long-term emotional exhaustion, depersonalization and diminished personal and professional achievements. Burnout syndrome is common among health care workers, 'due to their high dedication, empathy for suffering patients, and decision-making related to life and health of patients. Personal, role and organizational factors influence on development of burnout. The clinical picture of burnout is multifactorial and can be described as a set of psychosomatic and somatic disorders, symptoms of social dysfunction. Diversity and non-specific symptoms of burnout syndrome determine the need for an interdisciplinary approach to its diagnosis. The leading role in solving problems related to stress and emotional burnout plays psychotherapy. The paper presents diagnostic criteria, risk factors, and methods of prevention and treatment of emotional burnout.

Practice Guidelines for Treatment of Somatic Pain and Depression

OpenAIRE

Sonali Sarkar

2017-01-01

Background: Somatic pain is often associated with depression. Patients presenting with this combination can be difficult to treat and create a significant financial burden on the medical system. The mechanisms of action linking somatic pain and the myriad of depression are not clearly understood thus highlighting a gap in knowledge between the scientific mechanism, pathogenesis, and psychiatry involved in depression and somatic pain. The objective of this review article is to address etiolog...

EFFECT OF DANCE EXERCISE ON COGNITIVE FUNCTION IN ELDERLY PATIENTS WITH METABOLIC SYNDROME: A PILOT STUDY

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Sang-Wook Song

2011-12-01

Full Text Available Metabolic syndrome is associated with an increased risk of cognitive impairment. The purpose of this prospective pilot study was to examine the effects of dance exercise on cognitive function in elderly patients with metabolic syndrome. The participants included 38 elderly metabolic syndrome patients with normal cognitive function (26 exercise group and 12 control group. The exercise group performed dance exercise twice a week for 6 months. Cognitive function was assessed in all participants using the Korean version of the Consortium to Establish a Registry for Alzheimer's disease (CERAD-K. Repeated-measures ANCOVA was used to assess the effect of dance exercise on cognitive function and cardiometabolic risk factors. Compared with the control group, the exercise group significantly improved in verbal fluency (p = 0.048, word list delayed recall (p = 0.038, word list recognition (p = 0.007, and total CERAD-K score (p = 0.037. However, no significance difference was found in body mass index, blood pressure, waist circumference, fasting plasma glucose, triglyceride, and HDL cholesterol between groups over the 6-month period. In the present study, six months of dance exercise improved cognitive function in older adults with metabolic syndrome. Thus, dance exercise may reduce the risk for cognitive disorders in elderly people with metabolic syndrome.

Effect of light quality on somatic embryogenesis of quince leaves

International Nuclear Information System (INIS)

D'Onofrio, C.; Morini, S.; Bellocchi, G.

1998-01-01

The effect of light quality on somatic embryogenesis in quince BA 29 was investigated. 2,4-D induced leaves were exposed for 25 days to the following light quality treatments: dark, far-red, far-red+blue, far-red+red, blue, white, red+blue, red. After a further 20 days of white light exposure, somatic embryo production was recorded. Somatic embryogenesis was highest in cultures subjected to red light treatment, and decreased progressively with the transition to red+blue and to white. Overall, embryogenic competence showed a correlation with photoequilibrium. Phytochrome appeared to be inductive although this effect was adversely influenced by the blue absorbing photoreceptor, in particular at low photoequilibrium. Independently of light treatments applied, somatic embryos frequently showed severe morphological abnormalities. Conversion of somatic embryos to plantlets was not observed. (author)

Family functioning in families with a child with Down syndrome: a mixed methods approach.

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Povee, K; Roberts, L; Bourke, J; Leonard, H

2012-10-01

This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design. The quantitative component examined the effect of maladaptive and autism-spectrum behaviours on the functioning of the family while the qualitative component explored the impact of having a child with Down syndrome on family holidays, family activities and general family functioning. Participants in this study were 224 primary caregivers of children with Down syndrome aged 4-25 years (57.1% male; 42.9% female) currently residing in Western Australia (74.0% in metropolitan Perth and 26.0% in rural Western Australia). Maladaptive and autism-spectrum behaviour were associated with poorer family functioning. Mean total scores on the measures of family functioning and marital adjustment were comparable to that of families of typically developing children. Consistent with the quantitative findings, normality was the most common theme to emerge in the qualitative data. Child problem behaviours were also identified by parents/carers as having a negative impact on the family. This study has implications for the development of programs to support families with a child with Down syndrome and may dispel some of the myths surrounding the impact of intellectual disability on the family. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 Blackwell Publishing Ltd.

Parental Criticism is an Environmental Influence on Adolescent Somatic Symptoms

Science.gov (United States)

Horwitz, BN; Marceau, K; Narusyte, J; Ganiban, J; Spotts, EL; Reiss, D; Lichtenstein, P; Neiderhiser, JM

2015-01-01

Previous studies have suggested that parental criticism leads to more somatic symptoms in adolescent children. Yet this research has not assessed the direction of causation or whether genetic and/or environmental influences explain the association between parental criticism and adolescent somatic symptoms. As such, it is impossible to understand the mechanisms that underlie this association. The current study uses the Extended Children of Twins design to examine whether parents’ genes, adolescents’ genes, and/or environmental factors explain the relationship between parental criticism and adolescent somatic symptoms. Participants came from two twin samples, including the Twin and Offspring Study in Sweden (N = 868 pairs of adult twins and each twin’s adolescent child) and from the Twin Study of Child and Adolescent Development (N = 690 pairs of twin children and their parents). Findings showed that environmental influences account for the association between parental criticism and adolescent somatic symptoms. This suggests that parents’ critical behaviors exert a direct environmental effect on somatic symptoms in adolescent children. Results support the use of intervention programs focused on parental criticism to help reduce adolescents’ somatic symptoms. PMID:25844495

Telomere Elongation and Naive Pluripotent Stem Cells Achieved from Telomerase Haplo-Insufficient Cells by Somatic Cell Nuclear Transfer

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Li-Ying Sung

2014-12-01

Full Text Available Summary: Haplo-insufficiency of telomerase genes in humans leads to telomere syndromes such as dyskeratosis congenital and idiopathic pulmonary fibrosis. Generation of pluripotent stem cells from telomerase haplo-insufficient donor cells would provide unique opportunities toward the realization of patient-specific stem cell therapies. Recently, pluripotent human embryonic stem cells (ntESCs have been efficiently achieved by somatic cell nuclear transfer (SCNT. We tested the hypothesis that SCNT could effectively elongate shortening telomeres of telomerase haplo-insufficient cells in the ntESCs with relevant mouse models. Indeed, telomeres of telomerase haplo-insufficient (Terc+/− mouse cells are elongated in ntESCs. Moreover, ntESCs derived from Terc+/− cells exhibit naive pluripotency as evidenced by generation of Terc+/− ntESC clone pups by tetraploid embryo complementation, the most stringent test of naive pluripotency. These data suggest that SCNT could offer a powerful tool to reprogram telomeres and to discover the factors for robust restoration of telomeres and pluripotency of telomerase haplo-insufficient somatic cells. : Sung et al. demonstrate in a mouse model that telomeres of telomerase haplo-insufficient cells can be elongated by somatic cell nuclear transfer. Moreover, ntESCs derived from Terc+/− cells exhibit pluripotency evidenced by generation of Terc+/−ntESC clone pups by tetraploid embryo complementation, the most stringent test of naive pluripotency.

Somatic mutation analysis of MYH11 in breast and prostate cancer

International Nuclear Information System (INIS)

Alhopuro, Pia; Karhu, Auli; Winqvist, Robert; Waltering, Kati; Visakorpi, Tapio; Aaltonen, Lauri A

2008-01-01

MYH11 (also known as SMMHC) encodes the smooth-muscle myosin heavy chain, which has a key role in smooth muscle contraction. Inversion at the MYH11 locus is one of the most frequent chromosomal aberrations found in acute myeloid leukemia. We have previously shown that MYH11 mutations occur in human colorectal cancer, and may also be associated with Peutz-Jeghers syndrome. The mutations found in human intestinal neoplasia result in unregulated proteins with constitutive motor activity, similar to the mutant myh11 underlying the zebrafish meltdown phenotype characterized by disrupted intestinal architecture. Recently, MYH1 and MYH9 have been identified as candidate breast cancer genes in a systematic analysis of the breast cancer genome. The aim of this study was to investigate the role of somatic MYH11 mutations in two common tumor types; breast and prostate cancers. A total of 155 breast cancer and 71 prostate cancer samples were analyzed for those regions in MYH11 (altogether 8 exons out of 42 coding exons) that harboured mutations in colorectal cancer in our previous study. In breast cancer samples only germline alterations were observed. One prostate cancer sample harbored a frameshift mutation c.5798delC, which we have previously shown to result in a protein with unregulated motor activity. Little evidence for a role of somatic MYH11 mutations in the formation of breast or prostate cancers was obtained in this study

Functional status of persons with chronic fatigue syndrome in the Wichita, Kansas, population

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Reyes Michele

2003-10-01

Full Text Available Abstract Background Scant research has adequately addressed the impact of chronic fatigue syndrome on patients' daily activities and quality of life. Enumerating specific problems related to quality of life in chronic fatigue syndrome patients can help us to better understand and manage this illness. This study addresses issues of functional status in persons with chronic fatigue syndrome and other fatiguing illnesses in a population based sample, which can be generalized to all persons with chronic fatigue. Methods We conducted a random telephone survey in Wichita, Kansas to identify persons with chronic fatigue syndrome and other fatiguing illnesses. Respondents reporting severe fatigue of at least 1 month's duration and randomly selected non-fatigued respondents were asked to participate in a detailed telephone interview. Participants were asked about symptoms, medical and psychiatric illnesses, and about physical, social, and recreational functioning. Those meeting the 1994 chronic fatigue syndrome case definition, as determined on the basis of their telephone responses, were invited for clinical evaluation to confirm a diagnosis of chronic fatigue syndrome. For this analysis, we evaluated unemployment due to fatigue, number of hours per week spent on work, chores, and other activities (currently and prior to the onset of fatigue, and energy level. Results There was no difference between persons with chronic fatigue syndrome and persons with a chronic fatigue syndrome-like illness that could be explained by a medical or psychiatric condition for any of the outcomes we measured except for unemployment due to fatigue (15% vs. 40%, P Conclusions Persons with chronic fatigue syndrome are as impaired as persons whose fatigue could be explained by a medical or psychiatric condition, and they have less energy than non-fatigued controls.

Airway structure and function in Eisenmenger's syndrome.

Science.gov (United States)

McKay, K O; Johnson, P R; Black, J L; Glanville, A R; Armour, C L

1998-10-01

The responsiveness of airways from patients with Eisenmenger's syndrome (n = 5) was compared with that in airways from organ donors (n = 10). Enhanced contractile responses to cholinergic stimulation were found in airways from patients with Eisenmenger's syndrome. The maximal responses to acetylcholine, carbachol, and parasympathetic nerve stimulation in airway tissue from these patients were 221%, 139%, and 152%, respectively, of the maximal responses obtained in donor tissue. Further, relaxation responses to isoproterenol and levocromakalim were absent (n = 2) or markedly impaired (n = 3) in airways from patients with Eisenmenger's syndrome. This attenuated relaxation response was nonspecific in that it was also absent after vasoactive intestinal peptide, sodium nitroprusside, papaverine, and electrical field application. These observations can most likely be explained by a decrease in intrinsic smooth muscle tone, as precontraction of airways revealed relaxation responses that were equivalent to those obtained in donor tissues. Morphometric analysis of tissues used for the functional studies revealed no differences in the airway dimensions (internal perimeter) or airway wall components (e.g., smooth muscle, cartilage) or total area to explain these observations. Although the mechanism for this observed decrease in intrinsic airway smooth muscle tone is not certain, it may be due to alteration in the substructure of the airway wall or, alternatively, may result from the continued release of depressant factors in the vicinity of the smooth muscle which permanently alters smooth muscle responsiveness.

Development of direct somatic embryogenesis and regeneration on citrus sinesis

International Nuclear Information System (INIS)

Chong Saw Peng; Alvina Lindsay Mijen; Rusli Ibrahim

2004-01-01

The plant regeneration processes in Citrus sinensis involves direct somatic embryogenesis. Culture medium used was MS basal supplemented with 50 mg/L sucrose, 0.27% agar and 0.1% vitamin at pH 5.8. Sucrose is the major carbon source for the induction of somatic embryo and also the maturation and germination of somatic embryo. (Author)

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

Science.gov (United States)

Jansen, Anne M L; Geilenkirchen, Marije A; van Wezel, Tom; Jagmohan-Changur, Shantie C; Ruano, Dina; van der Klift, Heleen M; van den Akker, Brendy E W M; Laros, Jeroen F J; van Galen, Michiel; Wagner, Anja; Letteboer, Tom G W; Gómez-García, Encarna B; Tops, Carli M J; Vasen, Hans F; Devilee, Peter; Hes, Frederik J; Morreau, Hans; Wijnen, Juul T

2016-01-01

Lynch Syndrome (LS) is caused by pathogenic germline variants in one of the mismatch repair (MMR) genes. However, up to 60% of MMR-deficient colorectal cancer cases are categorized as suspected Lynch Syndrome (sLS) because no pathogenic MMR germline variant can be identified, which leads to difficulties in clinical management. We therefore analyzed the genomic regions of 15 CRC susceptibility genes in leukocyte DNA of 34 unrelated sLS patients and 11 patients with MLH1 hypermethylated tumors with a clear family history. Using targeted next-generation sequencing, we analyzed the entire non-repetitive genomic sequence, including intronic and regulatory sequences, of 15 CRC susceptibility genes. In addition, tumor DNA from 28 sLS patients was analyzed for somatic MMR variants. Of 1979 germline variants found in the leukocyte DNA of 34 sLS patients, one was a pathogenic variant (MLH1 c.1667+1delG). Leukocyte DNA of 11 patients with MLH1 hypermethylated tumors was negative for pathogenic germline variants in the tested CRC susceptibility genes and for germline MLH1 hypermethylation. Somatic DNA analysis of 28 sLS tumors identified eight (29%) cases with two pathogenic somatic variants, one with a VUS predicted to pathogenic and LOH, and nine cases (32%) with one pathogenic somatic variant (n = 8) or one VUS predicted to be pathogenic (n = 1). This is the first study in sLS patients to include the entire genomic sequence of CRC susceptibility genes. An underlying somatic or germline MMR gene defect was identified in ten of 34 sLS patients (29%). In the remaining sLS patients, the underlying genetic defect explaining the MMRdeficiency in their tumors might be found outside the genomic regions harboring the MMR and other known CRC susceptibility genes.

Children of people with somatization disorder.

Science.gov (United States)

Livingston, R

1993-05-01

The author investigated psychopathology, suicidal behavior, child abuse, somatization, and health care utilization in 34 children with a parent who has somatization disorder (SD-P) and two comparison groups: 41 children with a somatizing parent (SOM) (fewer symptoms than required for diagnosis of SD-P), and 30 pediatrically ill controls (CON). Child and parent versions of the Diagnostic Interview for Children and Adolescents were scored for diagnosis and symptom counts in specified categories. Medical records were obtained and abstracted. Children of SD-P had significantly more psychiatric disorders and suicide attempts than did children of SOM or the CON. SD-P and CON had significantly more unexplained physical symptoms than SOM. SD-P showed a trend toward more hospitalizations and experienced significantly more maltreatment. Children of SD-P are at significant risk in several respects. Clinical implications of these findings include a need for awareness and cooperation among general psychiatrists, primary care physicians, and child and adolescent psychiatrists to facilitate detection and treatment of these children's problems.

On Selected Somatic Phraseologisms in Modern Greek and Serbian (translation Jerneja Kavčič

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Predrag Mutavdžić

2011-12-01

Full Text Available Bearing in mind that every element of the linguistic system can be subordinated to the communicative function of language, the authors of this paper seek to provide a contrastive structural and semantic analysis of a particular lexico-semantic group of somatic idioms or phraseologisms (phraseological units containing the names of bodily organs found in the Modern Greek and Serbian languages. This brief analysis, based on a corpus gathered from dictionaries and translated books, is a pioneer work in its field either in Greek or in Serbian literature on phraseology. Since somatic phraseologisms diverge in their structure and semantic features, the authors attempt to find parallels between the two languages in their use of concrete concept forms, with the ultimate aim of explaining and expressing their metaphorical abstract meanings. This entails focusing on a selection of somatic phraseologisms which belong to separate phraseological inventories of the two languages.

Can Impairment Interfere with Performance by Women with Carpal Tunnel Syndrome According to International Classification of Function?

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Somayeh Kavousipor

2015-03-01

Full Text Available Background: Carpal tunnel syndrome is the most prevalent compression neuropathy of upper extremity which, two of the most important risk factors of that are the female sex and manual works. In the model of international classification of function, disability and health, disease is an impairment, results in functional limitation. The goal of this study is to compare hand function of participants between various severities of carpal tunnel syndrome. Methods: In a cross-sectional study, during 6 months period of time, 30 housekeeper women with carpal tunnel syndrome, with the mean age of 47.03 years, were selected through simple sampling. They were assessed for hand function, by Purdue peg board test and Boston questionnaire, after that a professional practitioner had performed Nerve Conductive Velocity (NCV test and identified the severity of their diseases. Then the data were analyzed with SPSS software, by Kruskal-Wallis test. Results: The mean of Purdue peg board test and Boston questionnaire scores in various clusters of carpal tunnel syndrome severity, were not different (P>0.05. Conclusion: In this research, severity of electrodiagnostic findings of participants, with carpal tunnel syndrome, is not related to their performance and functional limitations.

Effects of metabolic syndrome on the functional outcomes of corticosteroid injection for De Quervain tenosynovitis.

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Roh, Y H; Noh, J H; Gong, H S; Baek, G H

2017-06-01

Metabolic syndrome is a constellation of medical conditions that arise from insulin resistance and abnormal adipose deposition and function. In patients with metabolic syndrome and De Quervain tenosynovitis this might affect the outcome of treatment by local corticosteroid injection. A total of 64 consecutive patients with De Quervain tenosynovitis and metabolic syndrome treated with corticosteroid injection were age- and sex-matched with 64 control patients without metabolic syndrome. The response to treatment, including visual analogue scale score for pain, objective findings consistent with De Quervain tenosynovitis (tenderness at first dorsal compartment, Finkelstein test result), and Disability of the Arm, Shoulder, and Hand score were assessed at 6, 12, and 24 weeks follow-up. Treatment failure was defined as persistence of symptoms or surgical intervention. Prior to treatment, patients with metabolic syndrome had mean initial pain visual analogue scale and Disability of the Arm, Shoulder, and Hand scores similar to those in the control group. The proportion of treatment failure in the metabolic syndrome group (43%) was significantly higher than that in the control group (20%) at 6 months follow-up. The pain visual analogue scale scores in the metabolic syndrome group were higher than the scores in the control group at the 12- and 24-week follow-ups. The Disability of the Arm, Shoulder, and Hand scores of the metabolic syndrome group were higher (more severe symptoms) than those of the control group at the 12- and 24-week follow-ups. Although considerable improvements in symptom severity and hand function will likely occur in patients with metabolic syndrome, corticosteroid injection for De Quervain tenosynovitis is not as effective in these patients compared with age- and sex-matched controls in terms of functional outcomes and treatment failure. III.

How we treat Richter syndrome

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Parikh, Sameer A.; Kay, Neil E.; Shanafelt, Tait D.

2014-01-01

Richter syndrome (RS) is defined as the transformation of chronic lymphocytic leukemia (CLL) into an aggressive lymphoma, most commonly diffuse large B-cell lymphoma (DLBCL). RS occurs in approximately 2% to 10% of CLL patients during the course of their disease, with a transformation rate of 0.5% to 1% per year. A combination of germline genetic characteristics, clinical features (eg, advanced Rai stage), biologic (ζ-associated protein-70+, CD38+, CD49d+) and somatic genetic (del17p13.1 or d...

Do female patients with nonpathological vaginal discharge need the same evaluation as for Dhat syndrome in males?

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Grover, Sandeep; Avasthi, Ajit; Gupta, Sunil; Hazari, Nandita; Malhotra, Nidhi

2016-01-01

Aim: The aim of this study was to evaluate the concept of female Dhat syndrome characterized by the complaint of nonpathological vaginal discharge in association with somatic, anxiety, and depressive symptoms. Materials and Methods: A total of 26 female subjects with nonpathological vaginal discharge along with depressive and somatic complaints were assessed on a self-rated questionnaire modified from Comprehensive Questionnaire for Assessment of Dhat Syndrome designed for males. They were also assessed for psychiatric comorbidity as per ICD-10. Results: All female subjects received an ICD-10 psychiatric diagnosis, with somatoform/dissociative disorder (57.7%) being the most common. The mean age of onset of vaginal discharge was 24.6 (standard deviation - 7.0) years, noted every day or for 2–3 times per week by more than two-third of the participants. Two-fifth (61.5%) of the women described it as a milky discharge. The most common reason reported for passage of vaginal discharge was that of urinary infection or problems of urinary tract infections (42.3%) followed by vaginal infection/disease (34.6%). More than half (53.8%) of the subjects considered vaginal discharge to be responsible for weakness in the body, weakness in stamina and thinness of physique, while slightly more than two-third (69.2%) of them reported bodily weakness and sleep disturbances. Overall the clinical picture in females was similar to male patients with Dhat syndrome on most of the account. Conclusions: Subgroup of patients with vaginal discharge attribute their somatic and mental symptoms to the passage of whitish vaginal discharge and are distressed due to the same. The clinical picture is similar to Dhat syndrome in males. There is a need to recognize female variant of Dhat syndrome as a culture-bound syndrome. Identification of the same may help in managing this subgroup of patients seeking help from the gynecologists for their nonpathological vaginal discharge or from mental health

Do female patients with nonpathological vaginal discharge need the same evaluation as for Dhat syndrome in males?

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Grover, Sandeep; Avasthi, Ajit; Gupta, Sunil; Hazari, Nandita; Malhotra, Nidhi

2016-01-01

The aim of this study was to evaluate the concept of female Dhat syndrome characterized by the complaint of nonpathological vaginal discharge in association with somatic, anxiety, and depressive symptoms. A total of 26 female subjects with nonpathological vaginal discharge along with depressive and somatic complaints were assessed on a self-rated questionnaire modified from Comprehensive Questionnaire for Assessment of Dhat Syndrome designed for males. They were also assessed for psychiatric comorbidity as per ICD-10. All female subjects received an ICD-10 psychiatric diagnosis, with somatoform/dissociative disorder (57.7%) being the most common. The mean age of onset of vaginal discharge was 24.6 (standard deviation - 7.0) years, noted every day or for 2-3 times per week by more than two-third of the participants. Two-fifth (61.5%) of the women described it as a milky discharge. The most common reason reported for passage of vaginal discharge was that of urinary infection or problems of urinary tract infections (42.3%) followed by vaginal infection/disease (34.6%). More than half (53.8%) of the subjects considered vaginal discharge to be responsible for weakness in the body, weakness in stamina and thinness of physique, while slightly more than two-third (69.2%) of them reported bodily weakness and sleep disturbances. Overall the clinical picture in females was similar to male patients with Dhat syndrome on most of the account. Subgroup of patients with vaginal discharge attribute their somatic and mental symptoms to the passage of whitish vaginal discharge and are distressed due to the same. The clinical picture is similar to Dhat syndrome in males. There is a need to recognize female variant of Dhat syndrome as a culture-bound syndrome. Identification of the same may help in managing this subgroup of patients seeking help from the gynecologists for their nonpathological vaginal discharge or from mental health professionals for their symptoms of common mental

Somatic embryogenesis for efficient micropropagation of guava (Psidium guajava L.).

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Akhtar, Nasim

2013-01-01

Guava (Psidium guajava L.) is well known for edible fruit, environment friendly pharmaceutical and commercial products for both national and international market. The conventional propagation and in vitro organogenesis do not meet the demand for the good quality planting materials. Somatic embryogenesis for efficient micropropagation of guava (P. guajava L.) has been developed to fill up the gap. Somatic embryogenesis and plantlets regeneration are achieved from 10-week post-anthesis zygotic embryo explants by 8-day inductive treatment with different concentrations of 2,4-dichlorophenoxy acetic acid (2,4-D) on MS agar medium containing 5% sucrose. Subsequent development and maturation of somatic embryos occur after 8 days on MS basal medium supplemented with 5% sucrose without plant growth regulator. The process of somatic embryogenesis shows the highest relative efficiency in 8-day treatment of zygotic embryo explants with 1.0 mg L(-1) 2,4-D. High efficiency germination of somatic embryos and plantlet regeneration takes place on half strength semisolid MS medium amended with 3% sucrose within 2 weeks of subculture. Somatic plantlets are grown for additional 2 weeks by subculturing in MS liquid growth medium containing 3% sucrose. Well-grown plantlets from liquid medium have survived very well following 2-4 week hardening process. The protocol of somatic embryogenesis is optimized for high efficiency micropropagation of guava species.

Plant regeneration of Michelia champaca L., through somatic ...

African Journals Online (AJOL)

STORAGESEVER

2010-05-03

May 3, 2010 ... as a basic material for perfume, cosmetic, and medicine. The development of an ... Plant regeneration systems of M. champaca through somatic ... The embryogenic cells proliferated and formed somatic embryos (30%) after four to six .... by using MS excel program and Duncan's new multiple range test.

The Place of Stress and Emotions in the Irritable Bowel Syndrome.

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Pellissier, S; Bonaz, B

2017-01-01

Our emotional state can have many consequences on our somatic health and well-being. Negative emotions such as anxiety play a major role in gut functioning due to the bidirectional communications between gut and brain, namely, the brain-gut axis. The irritable bowel syndrome (IBS), characterized by an unusual visceral hypersensitivity, is the most common disorder encountered by gastroenterologists. Among the main symptoms, the presence of current or recurrent abdominal pain or discomfort associated with bloating and altered bowel habits characterizes this syndrome that could strongly alter the quality of life. This chapter will present the physiopathology of IBS and explain how stress influences gastrointestinal functions (permeability, motility, microbiota, sensitivity, secretion) and how it could be predominantly involved in IBS. This chapter will also describe the role of the autonomic nervous system and the hypothalamic-pituitary axis through vagal tone and cortisol homeostasis. An analysis is made about how emotions and feelings are involved in the disruption of homeostasis, and we will see to what extent the balance between vagal tone and cortisol may reflect dysfunctions of the brain-gut homeostasis. Finally, the interest of therapeutic treatments focused on stress reduction and vagal tone enforcement is discussed. © 2017 Elsevier Inc. All rights reserved.

Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

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Tahir M. Malla

2016-01-01

Full Text Available There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes.

The Somatic Appraisal Model of Affect: Paradigm for Educational Neuroscience and Neuropedagogy

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Patten, Kathryn E.

2011-01-01

This chapter presents emotion as a function of brain-body interaction, as a vital part of a multi-tiered phylogenetic set of neural mechanisms, evoked by both instinctive processes and learned appraisal systems, and argues to establish the primacy of emotion in relation to cognition. Primarily based on Damasio's somatic marker hypothesis, but also…

File list: Pol.Gon.50.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

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Full Text Available Pol.Gon.50.AllAg.Testicular_somatic_cells mm9 RNA polymerase Gonad Testicular somat...ic cells http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/Pol.Gon.50.AllAg.Testicular_somatic_cells.bed ...

Math Achievement, Numerical Processing, and Executive Functions in Girls with Turner Syndrome: Do Girls with Turner Syndrome Have Math Learning Disability?

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Mazzocco, Michele M. M.; Hanich, Laurie B.

2010-01-01

Turner syndrome is a common genetic disorder associated with select deficits in executive functions, working memory and mathematics. In Study 1, we examined growth trajectories of skills in these areas, from grades 1 to 6, among girls with or without Turner syndrome. Rates of growth and performance levels at 6th grade, on an untimed math…

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

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Tyburczy, Magdalena E.; Wang, Ji-an; Li, Shaowei; Thangapazham, Rajesh; Chekaluk, Yvonne; Moss, Joel; Kwiatkowski, David J.; Darling, Thomas N.

2014-01-01

Tuberous sclerosis complex (TSC) is characterized by the formation of tumors in multiple organs and is caused by germline mutation in one of two tumor suppressor genes, TSC1 and TSC2. As for other tumor suppressor gene syndromes, the mechanism of somatic second-hit events in TSC tumors is unknown. We grew fibroblast-like cells from 29 TSC skin tumors from 22 TSC subjects and identified germline and second-hit mutations in TSC1/TSC2 using next-generation sequencing. Eighteen of 22 (82%) subjects had a mutation identified, and 8 of the 18 (44%) subjects were mosaic with mutant allele frequencies of 0 to 19% in normal tissue DNA. Multiple tumors were available from four patients, and in each case, second-hit mutations in TSC2 were distinct indicating they arose independently. Most remarkably, 7 (50%) of the 14 somatic point mutations were CC>TT ultraviolet ‘signature’ mutations, never seen as a TSC germline mutation. These occurred exclusively in facial angiofibroma tumors from sun-exposed sites. These results implicate UV-induced DNA damage as a cause of second-hit mutations and development of TSC facial angiofibromas and suggest that measures to limit UV exposure in TSC children and adults should reduce the frequency and severity of these lesions. PMID:24271014

File list: Oth.Gon.50.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

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Full Text Available Oth.Gon.50.AllAg.Testicular_somatic_cells mm9 TFs and others Gonad Testicular somat...ic cells http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/Oth.Gon.50.AllAg.Testicular_somatic_cells.bed ...

File list: Oth.Gon.05.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available Oth.Gon.05.AllAg.Testicular_somatic_cells mm9 TFs and others Gonad Testicular somat...ic cells http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/Oth.Gon.05.AllAg.Testicular_somatic_cells.bed ...

Somatic Embryogenesis Induction and Plant Regeneration in Strawberry Tree (Arbutus unedo L.).

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Martins, João F; Correia, Sandra I; Canhoto, Jorge M

2016-01-01

Somatic embryogenesis is a powerful tool both for cloning and studies of genetic transformation and embryo development. Most protocols for somatic embryogenesis induction start from zygotic embryos or embryonic-derived tissues which do not allow the propagation of elite trees. In the present study, a reliable protocol for somatic embryogenesis induction from adult trees of strawberry tree is described. Leaves from in vitro proliferating shoots were used to induce somatic embryo formation on a medium containing an auxin and a cytokinin. Somatic embryos germinated in a plant growth regulator-free medium.

Somatic hybridization of sexually incompatible petunias: Petunia parodii, Petunia parviflora.

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Power, J B; Berry, S F; Chapman, J V; Cocking, E C

1980-01-01

Somatic hybrid plants were regenerated following the fusion of leaf mesophyll protoplasts of P. parodii with those isolated from a nuclear-albino mutant of P. parviflora. Attempts at sexual hybridization of these two species repeatedly failed thus confirming their previously established cross-incompatibility. Selection of somatic hybrid plants was possible since protoplasts of P. parodii would not develop beyond the cell colony stage, whilst those of the somatic hybrid and albino P. parviflora produced calluses. Green somatic hybrid calluses were visible against a background of albino cells/calluses, and upon transfer to regeneration media gave rise to shoots. Shoots and the resultant flowering plants were confirmed as somatic hybrids based on their growth habit, floral pigmentation and morphology, leaf hair structure, chromosome number and Fraction 1 protein profiles. The relevance of such hybrid material for the development of new, and extensively modified cultivars, is discussed.

Profiles of Everyday Executive Functioning in Young Children with Down Syndrome

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Daunhauer, Lisa A.; Fidler, Deborah J.; Hahn, Laura; Will, Elizabeth; Lee, Nancy Raitano; Hepburn, Susan

2014-01-01

We investigated executive functioning (EF) in children with Down syndrome (DS; n = 25) and typically developing (TD) children matched for mental age (MA; n = 23) using the Behavior Rating Inventory of Executive Function-Preschool. We sought to (1) compare children with DS to a developmentally matched control group, and (2) to characterize the EF…

Somatic seeds of Plantago asiatica L.

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Emilia Andrzejewska-Golec

2011-01-01

Full Text Available Somatic seeds of Plantago asiatica L. were produced for the first time. Shoot-tips isolated from in vitro obtained 4-week shoots were encapsulated using sodium alginate and calcium chloride. Capsules with or without sucrose and with and without cytokinin - indole-3-butyric acid (IBA were used. Sucrose presence in capsules very distinctly influences somatic seeds of Plantago asiatica germination and their conversion into plants. However, addition of IBA to capsules has not clear influence on the ability of plant regrowth. Plantlets transplanted to soil grew to phenotypically normal plants.

The effect of continuous aerobic exercise on premenstrual syndrome: a randomized clinical trial

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Mosallanejad Z

2007-11-01

Full Text Available Background: Premenstrual syndrome is one of the most incidencial problems in women's during reproductive age. That effect personal performance in family and society status. Varied therapeutic treatment has been studied for its promotion. The main attention was to find a method without complications. This study performed with aim of assessing effect of one period of continuous aerobic exercise on premenstrual syndrome in 18-25 years female students in jahrom medical school."nMethods: This study was a kind of semi experimental study with two group plane. Forty students were assessed for premenstrual syndrome with regular mense, without previous history of Diabetes mellitus and Thyroid, Gynecologic and psychological disease. Twenty subjects (with similar VO2 MAX were selected and randomly divided to two experimental and control groups. Data gathering was from ILPDD questionnaire concluded 11 question about signs and symptoms of mental and physical complain related to premenstrual syndrome that filled by samples. All samples have positive five complain that four of them depend on mental symptoms of premenstrual syndrome. Intensity of quantity of premenstrual syndrome and levels of estrogen and progesterone were measured. Then, exercise regime including continuous aerobic exercise, were performed for eight weeks, with frequency of three sessions every week. At the end of 8th week, posttests were repeated in the situation similar to pretest. Analytic statistic as a Nonparametric Mann-whitney test, and nonparametric Wilcoxon signed ranks test was used for comparing variables."nResults: This study showed that after two method of aerobic exercise, somatic and effective complain was decrease in case group (p>0.05. Hormonal change in two groups was not significant."nConclusion: Releaving aerobic experiences is effective for somatic and affective complains secondary to premenstrual syndrome and this plan can be replace by other methods of medical

Somatic Experiencing® Informed Therapeutic Group for the Care and Treatment of Biopsychosocial Effects upon a Gender Diverse Identity.

Science.gov (United States)

Briggs, Paul C; Hayes, Sage; Changaris, Michael

2018-01-01

Somatic Experiencing ® (SE™) is a resiliency-based treatment for autonomic nervous systems dysregulation syndromes, such as posttraumatic stress disorder, anxiety, depression, and physical syndromes like chronic pain, migraines, and fibromyalgia. "Transgender/gender non-conforming/gender variant" describes people whose gender identity/expression is different, at least part of the time, from the sex assigned at birth. Research indicates transgender individuals have a higher incidence of depression, anxiety, victimization, and discrimination. SE™ tools may support transgender/gender non-conforming individuals to increase resilience in the face of discrimination and social injustice. This study is a pretest posttest within group ( N  = 7) pilot study assessing the impact of a 10 session SE™ based group treatment on depression (PHQ-9), anxiety (GAD-7), somatic symptoms (PHQ-15), quality of life (QoL) (WHOQoL-BREF), and coping with discrimination (CDS) for a cohort of seven individuals identifying as transgender/gender non-conforming. Materials were created in collaboration with members of the LGBTQIA community. Care was taken to be inclusive of gender non-conforming identities and culturally responsive in design. Participants described their gender identities as: non-binary, female to male, male to female, and gender fluid. Participants had significant increase in psychological QoL (psychological well-being) (WHOQoL-BREF) p  = 0.004, SD = 2.31, with a modest effect size of d  = 0.71. Some likely impacts of historical effect discussed. No other clinical or QoL outcomes were statistically significant. However, one outlier was identified in the dataset. When this outlier was excluded there was a trend toward significant reduction in depression symptoms (PhQ-9) p  = 0.097, SD = 3.31 and a modest effect size of d  = 0.68; somatic symptoms (PhQ-15) p  = 0.093, SD = 3.52 and a modest effect size of d  = 0.72. These data indicate

Somatic Experiencing® Informed Therapeutic Group for the Care and Treatment of Biopsychosocial Effects upon a Gender Diverse Identity

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Paul C. Briggs

2018-02-01

Full Text Available BackgroundSomatic Experiencing® (SE™ is a resiliency-based treatment for autonomic nervous systems dysregulation syndromes, such as posttraumatic stress disorder, anxiety, depression, and physical syndromes like chronic pain, migraines, and fibromyalgia. “Transgender/gender non-conforming/gender variant” describes people whose gender identity/expression is different, at least part of the time, from the sex assigned at birth. Research indicates transgender individuals have a higher incidence of depression, anxiety, victimization, and discrimination. SE™ tools may support transgender/gender non-conforming individuals to increase resilience in the face of discrimination and social injustice.MethodsThis study is a pretest posttest within group (N = 7 pilot study assessing the impact of a 10 session SE™ based group treatment on depression (PHQ-9, anxiety (GAD-7, somatic symptoms (PHQ-15, quality of life (QoL (WHOQoL-BREF, and coping with discrimination (CDS for a cohort of seven individuals identifying as transgender/gender non-conforming. Materials were created in collaboration with members of the LGBTQIA community. Care was taken to be inclusive of gender non-conforming identities and culturally responsive in design.ResultsParticipants described their gender identities as: non-binary, female to male, male to female, and gender fluid. Participants had significant increase in psychological QoL (psychological well-being (WHOQoL-BREF p = 0.004, SD = 2.31, with a modest effect size of d = 0.71. Some likely impacts of historical effect discussed. No other clinical or QoL outcomes were statistically significant. However, one outlier was identified in the dataset. When this outlier was excluded there was a trend toward significant reduction in depression symptoms (PhQ-9 p = 0.097, SD = 3.31 and a modest effect size of d = 0.68; somatic symptoms (PhQ-15 p = 0.093, SD = 3.52 and a modest effect size of d = 0

Are the Cognitive Functions of Children with Down Syndrome Related to Their Participation?

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Rihtman, Tanya; Tekuzener, Esti; Parush, Shula; Tenenbaum, Alex; Bachrach, Steven J.; Ornoy, Asher

2010-01-01

Aim: There is a lack of investigation into the functional developmental profile of children with Down syndrome. On the basis of current international health paradigms, the purpose of this study was to assess the developmental profile of these children. Method: Sixty children (33 males, 27 females) with Down syndrome (age range 6-16y; mean age 9y…

Physical exercise restores microvascular function in obese rats with metabolic syndrome.

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Machado, Marcus Vinicius; Vieira, Aline Bomfim; Nascimento, Alessandro Rodrigues; Martins, Rômulo Lanza; Daleprane, Julio Beltrame; Lessa, Marcos Adriano; Tibiriçá, Eduardo

2014-11-01

Obesity and metabolic syndrome are related to systemic functional microvascular alterations, including a significant reduction in microvessel density. The aim of this study was to investigate the effects of exercise training on functional capillary density in the skeletal muscle and skin of obese rats with metabolic syndrome. We used male Wistar-Kyoto rats that had been fed a standard commercial diet (CON) or high-fat diet (HFD) for 32 weeks. Animals receiving the HFD were randomly divided into sedentary (HFD+SED) and training groups (HFD+TR) at the 20(th) week. After 12 weeks of aerobic treadmill training, the maximal oxygen uptake (VO2max); hemodynamic, biochemical, and anthropometric parameters; and functional capillary density were assessed. In addition, a maximal exercise test was performed. Exercise training increased the VO2max (69 ± 3 mL/kg per min) and exercise tolerance (30 ± 1 min) compared with the HFD+SED (41 ± 6 mL/kg per min, P Exercise training also increased the number of spontaneously perfused capillaries in the skeletal muscle (252 ± 9 vs. 207 ± 9 capillaries/mm(2)) of the training group compared with that in the sedentary animals (260 ± 15 capillaries/mm(2)). These results demonstrate that exercise training reverses capillary rarefaction in our experimental model of metabolic syndrome and obesity.

Measuring School Functioning in Students with Chronic Fatigue Syndrome: A Systematic Review

Science.gov (United States)

Tollit, Michelle; Politis, Jennifer; Knight, Sarah

2018-01-01

Background: It is often surmised that school functioning is significantly impacted in chronic fatigue syndrome (CFS); however, how this phenomenon manifests itself has rarely been characterized. Methods: This systematic review synthesized and critically appraised methods, constructs, and instruments used to assess school functioning in students…

The Association Between Headaches and Temporomandibular Disorders is Confounded by Bruxism and Somatic Symptoms.

Science.gov (United States)

van der Meer, Hedwig A; Speksnijder, Caroline M; Engelbert, Raoul H H; Lobbezoo, Frank; Nijhuis-van der Sanden, Maria W G; Visscher, Corine M

2017-09-01

The objective of this observational study was to establish the possible presence of confounders on the association between temporomandibular disorders (TMD) and headaches in a patient population from a TMD and Orofacial Pain Clinic. Several subtypes of headaches have been diagnosed: self-reported headache, (probable) migraine, (probable) tension-type headache, and secondary headache attributed to TMD. The presence of TMD was subdivided into 2 subtypes: painful TMD and function-related TMD. The associations between the subtypes of TMD and headaches were evaluated by single regression models. To study the influence of possible confounding factors on this association, the regression models were extended with age, sex, bruxism, stress, depression, and somatic symptoms. Of the included patients (n=203), 67.5% experienced headaches. In the subsample of patients with a painful TMD (n=58), the prevalence of self-reported headaches increased to 82.8%. The associations found between self-reported headache and (1) painful TMD and (2) function-related TMD were confounded by the presence of somatic symptoms. For probable migraine, both somatic symptoms and bruxism confounded the initial association found with painful TMD. The findings of this study imply that there is a central working mechanism overlapping TMD and headache. Health care providers should not regard these disorders separately, but rather look at the bigger picture to appreciate the complex nature of the diagnostic and therapeutic process.

Caregiver Report of Executive Functioning in a Population-Based Sample of Young Children with Down Syndrome

Science.gov (United States)

Lee, Nancy Raitano; Fidler, Deborah J.; Blakeley-Smith, Audrey; Daunhauer, Lisa; Robinson, Cordelia; Hepburn, Susan L.

2011-01-01

The current study describes everyday executive function (EF) profiles in young children with Down syndrome. Caregivers of children with Down syndrome (n = 26; chronological ages = 4-10 years; mental ages = 2-4 years) completed the Behavior Rating Inventory of Executive Function-Preschool (BRIEF-P; G. A. Gioia, K. A. Espy, & P. K. Isquith, 2003), a…

Studies for Somatic Embryogenesis in Sweet Potato

Science.gov (United States)

Bennett, J. Rasheed; Prakash, C. S.

1997-01-01

The purpose of this study was to improve the somatic embryo (SE) system for plant production of sweet potato (Ipomoea batatas L(Lam)). Explants isolated from SE-derived sweet potato plants were compared with control (non SE-derived) plants for their competency for SE production. Leaf explants were cultured on Murashige-Skoog (MS) medium with 2,4-dichlorophenoxy acetic acid (0.2 mg/L) and 6-benzylaminopurine (2.5 mg/L) for 2 weeks in darkness and transferred to MS medium with abscisic acid (2.5 mg/L). Explants isolated from those plants developed through somatic embryogenesis produced new somatic embryos rapidly and in higher frequency than those isolated from control plants They also appeared to grow faster in tissue culture than the control plants. Current studies in the laboratory are examining whether plants derived from a cyclical embryogenesis system (five cycles) would have any further positive impact on the rapidity and frequency of somatic embryo development. More detailed studies using electron microscopy are expected to show the point of origin of the embryos and to allow determination of their quality throughout the cyclical process. This study may facilitate improved plant micropropagation, gene transfer and germplasm conservation in sweet potato.

Parental burden, coping, and family functioning in primary caregivers of children with Joubert syndrome.

Science.gov (United States)

Luescher, J L; Dede, D E; Gitten, J C; Fennell, E; Maria, B L

1999-10-01

Children with Joubert syndrome have physical and intellectual disabilities. The purpose of this study was to assess the impact of Joubert syndrome on parental burden, coping, and family functioning. Forty-nine primary caregivers were surveyed. Forty-three primary caregivers were mothers and six were fathers; their mean age was 34 years. The following measures were used: Beck Depression Inventory, Child Development Inventory, Caregiver Strain Index, Family Assessment Device, and Ways of Coping Checklist-Revised. The data show that caregiver burden is not related to the severity of the child's illness, but that caregivers report significant burden. Higher burden was associated with the use of palliative coping methods, and family functioning was problematic. The results of this study suggest that for parents of children with Joubert syndrome, degree of parental burden depends more on the parents' coping skills and the level of family functioning rather than on the degree of the child's impairment. These findings highlight the importance of assessing caregiver burden, as well as decreased family functioning or coping abilities, since these problems often can be managed with psychologic intervention.

Sporadic diffuse segmental interstitial cell of Cajal hyperplasia harbouring two gastric gastrointestinal stromal tumours (GIST mimicking hereditary GIST syndromes

Directory of Open Access Journals (Sweden)

Mafalda Costa Neves

2015-01-01

Conclusion: We describe a diffuse form of sporadic ICC hyperplasia harbouring multifocal GISTs, mimicking diffuse ICC hyperplasia in hereditary GIST syndromes. Detection of somatic c-KIT exon 11 mutation ruled out a hereditary disorder.

Respiratory Failure Associated with the Lipodystrophy Syndrome in an HIV-Positive Patient with Compromised Lung Function

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Natasha Press

2001-01-01

Full Text Available Protease inhibitors, used as treatment in human immunodeficiency virus (HIV infection, are associated with a syndrome of peripheral lipodystrophy, central adiposity, hyperlipidemia and insulin resistance. An HIV-positive patient with chronic obstructive pulmonary disease is presented who developed the lipodystrophy syndrome that is associated with the use of protease inhibitors. It is postulated that the lipodystrophy syndrome further compromised his lung function, leading to respiratory failure. Patients who have pulmonary disease and are taking protease inhibitors require monitoring of clinical status and pulmonary function tests.

Correlation between Oxidative Stress and Thyroid Function in Patients with Nephrotic Syndrome

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Sangita U. Sawant

2011-01-01

Full Text Available Background. The present study is to look for a correlation between oxidative stress and thyroid function in patients with the nephrotic syndrome in the remission phase as well as in a persistent proteinuric state. Introduction. Nephrotic syndrome is a form of chronic kidney disease due to which blood loses protein through the urine. We wanted to know if there was an increased loss of thyroid hormones in urine affecting thyroid function. Methods. 60 patients with nephrotic syndrome and 20 healthy non-proteinuric individuals as control subjects were enrolled in the study. We measured their serum tri-iodothyronine, thyroxine and thyroid-stimulating hormone. Estimation of lipid peroxidation (LPx catalase, superoxide dismutase (SOD, and Glutathione peroxidase (GPx were carried out by standard methods. Results. TSH was elevated in the nephrotic patients compared to controls, while TT4 and TT3 were significantly lower in the patients than in controls. Lipid Peroxidation and GPx were significantly higher in the nephrotic syndrome patients than in the controls, while SOD and catalase were significantly lower than in patients than in the control subjects. Conclusion. Nephrotic patients can lose significant amounts of thyroid hormones along with protein in urine, which can affect thyroid status, but this is reversible on remission.

The prevalence of premenstrual syndrome in young woman

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Piotr Kozłowski

2017-07-01

Full Text Available Regular menstrual cycles reflect the condition of a woman's health. However, they are influenced by many external factors. Premenstrual Syndrome (PMS is a syndrome of somatic and mental symptoms including irritability, fatigue, irritability, depression, crying, self-deprecation, breast hypersensitivity, feeling water retention, diarrhea and constipation, headaches. These symptoms are most noticeable at the age of 25-35.             The aim of the study was to evaluate premenstrual syndrome prevalence in young, healthy women. The questioned women were also asked about education, age, premenstrual syndrome, oral contraceptives, pain during menstruation and the frequency of visits to a gynecologist. The study included 122 female participants. The age of participants ranged from 16 to 45 years. The study conducted in the period from January 2017 to April 2017 and it employed standardized interview research method. Research tool, which was used for data collection was a questionnaire consisted of 19 questions single-choice questions and 3 multiple-choice questions.. Statistical analysis was performed using the chi-square test. All values for which p <0.05 (probability of error were considered statistically significant. Respondents were asked about education, work and knowledge about eye diseases.             All respondents reported premenstrual symptoms, and 26.2% indicated that they felt PMS symptoms regularly or frequently (48.4%. 72.1% (p <0.05 of the questioned women considered that the most severe symptoms of PMS were psychological. Emotional depression affects 73.8% of respondents, the feeling of self-esteem affects or  anxious affects 52.5% of respondents. Concentration problems were reported by 23.8% of respondents. The most common somatic symptom of PMS was water retention (69.8%. Respondents also indicated that they have more problems with their complexion (45.9%.

Germinal and somatic mutations in cancer

International Nuclear Information System (INIS)

Knudson, A.G. Jr.

1977-01-01

The role of germinal and somatic mutations in carcinogenesis leads to the conclusion that environmental carcinogens probably exert their effects via somatic mutations. Susceptibility to this process may itself be genetically determined, so we may deduce that two groups, one genetic and one non-genetic, are included in the 'environmental' class. Other individuals seem to acquire cancer even in the absence of such environmental agents, and these too may be classified into a genetic and a non-genetic group. It has been estimated that in industrial countries, the environmental groups include 70-80% of all cancer cases, but we are only beginning to know how to separate the genetic and non-genetic subgroups. The genetic subgroup of the 'non-environmental' group is very small, probably of the order of magnitude of 1-2% for cancer as a whole. The remainder, about 25%, comprises a non-genetic, non-environmental subgroup that seems to arise as a consequence of 'spontaneous' somatic mutations. The incidence of these 'background' cancers is what we should combat with preventive and therapeutic measures

Sjoegren's syndrome. A functional scintigraphic study of salivary glands

International Nuclear Information System (INIS)

Arrago, J.P.; Rain, J.D.; Rocher, F.; Vigneron, N.; Pecking, A.; Najean, Y.

1984-01-01

One-hundred and twenty patients with sicca syndrome, connective tissue disease or chronic graft-versus-host disease were investigated in the Saint-Louis Hospital Department of Nuclear Medicine. Technetium scanning of the salivary glands was performed in all patients. The results of the scintigraphic study were closely correlated with clinical and histological data in patients with Sjoegren's syndrome. This method, which accurately quantifies the salivary function without danger nor discomfort to the patients, has a number of advantages: (a) it is sensitive enough to detect minimal salivary gland dysfunction; (b) it differentiates between parotid gland and submandibular gland involvement demonstrates assymetry in pathological processes; (c) it helps in following up patients with Sjoegren's disease and in assessing the results of immunosuppressive or anti-inflammatory treatment [fr

Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile

Science.gov (United States)

Rovet, Joanne

2004-01-01

Turner Syndrome (TS) is a genetic disorder affecting primarily females. It arises from a loss of X-chromosome material, most usually one of the two X chromosomes. Affected individuals have a number of distinguishing somatic features, including short stature and ovarian dysgenesis. Individuals with TS show a distinct neurocognitive profile…

Somatic Embryogenesis in Two Orchid Genera (Cymbidium, Dendrobium).

Science.gov (United States)

da Silva, Jaime A Teixeira; Winarto, Budi

2016-01-01

The protocorm-like body (PLB) is the de facto somatic embryo in orchids. Here we describe detailed protocols for two orchid genera (hybrid Cymbidium Twilight Moon 'Day Light' and Dendrobium 'Jayakarta', D. 'Gradita 31', and D. 'Zahra FR 62') for generating PLBs. These protocols will most likely have to be tweaked for different cultivars as the response of orchids in vitro tends to be dependent on genotype. In addition to primary somatic embryogenesis, secondary (or repetitive) somatic embryogenesis is also described for both genera. The use of thin cell layers as a sensitive tissue assay is outlined for hybrid Cymbidium while the protocol outlined is suitable for bioreactor culture of D. 'Zahra FR 62'.

Two Cases of Carcinosarcomas of the Ovary Involved in Hereditary Cancer Syndromes.

Science.gov (United States)

Carnevali, Ileana W; Cimetti, Laura; Sahnane, Nora; Libera, Laura; Cavallero, Alessandra; Formenti, Giorgio; Riva, Cristina; Tibiletti, Maria Grazia

2017-01-01

Ovarian carcinosarcomas (OCS), also known as malignant mixed mesodermal/Müllerian tumors, are rare neoplasms (1%-4% of all malignant ovarian tumors) composed of high-grade malignant epithelial and mesenchymal elements. OCS occurs in older women. It is associated with a poor outcome and is usually not involved in inherited cancer syndromes. We present 2 cases of OCS; one arising in a patient with a pathogenetic BRCA1 mutation and the other in a woman affected by Lynch Syndrome (LS) carrying a MSH6 germline mutation. To the best of our knowledge, this is the first time that this second type of case has been reported. In this study, we investigated somatic impairment of the wild-type BRCA1 and MSH6 alleles in the OCS of these 2 patients. We also explored in both OCS, the occurrence of TP53 loss of function, which is a genetic alteration known to occur in BRCA-linked ovarian tumorigenesis but not in LS tumors. Moreover, we also provide further data about the histogenesis of OCS.

Cohort description: The Danish study of Functional Disorders

Directory of Open Access Journals (Sweden)

Dantoft TM

2017-02-01

Full Text Available Thomas Meinertz Dantoft,1 Jeanette Frost Ebstrup,1 Allan Linneberg,1–3 Sine Skovbjerg,1 Anja Lykke Madsen,1 Jesper Mehlsen,4 Louise Brinth,4 Lene Falgaard Eplov,5 Tina Wisbech Carstensen,6,7 Andreas Schroder,6,7 Per Klausen Fink,6,7 Erik Lykke Mortensen,8 Torben Hansen,9 Oluf Pedersen,9 Torben Jørgensen1,10,11 1Research Centre for Prevention and Health, The Capital Region of Denmark, Glostrup, 2Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 3Department of Clinical Experimental Research, Rigshospitalet, Glostrup, 4Coordinating Research Centre, Bispebjerg and Frederiksberg Hospital, Frederiksberg, 5Mental Health Centre Copenhagen, Research Unit, Mental Health Services, Capital Region of Denmark, Copenhagen, 6The Research Clinic for Functional Disorders and Psychosomatics, Aarhus University Hospital, 7Faculty of Health Sciences, University of Aarhus, Aarhus, 8Department of Public Health and Center for Healthy Aging, 9Novo Nordisk Foundation Center for Basic Metabolic Research, 10Department of Public Health, Faculty of Health and Medical Sciences, University of Copenhagen, 11Faculty of Medicine, Aalborg University, Aalborg, Denmark Abstract: The Danish study of Functional Disorders (DanFunD cohort was initiated to outline the epidemiology of functional somatic syndromes (FSS and is the first larger coordinated epidemiological study focusing exclusively on FSS. FSS are prevalent in all medical settings and can be defined as syndromes that, after appropriate medical assessment, cannot be explained in terms of a conventional medical or surgical disease. FSS are frequent and the clinical importance varies from vague symptoms to extreme disability. No well-described medical explanations exist for FSS, and how to delimit FSS remains a controversial topic. The specific aims with the cohort were to test delimitations of FSS, estimate prevalence and incidence rates, identify risk factors

The effect of relaxation therapy on autonomic functioning, symptoms and daily functioning, in patients with chronic fatigue syndrome or fibromyalgia: a systematic review.

Science.gov (United States)

Meeus, Mira; Nijs, Jo; Vanderheiden, Tanja; Baert, Isabel; Descheemaeker, Filip; Struyf, Filip

2015-03-01

To establish the effects of relaxation therapy on autonomic function, pain, fatigue and daily functioning in patients with chronic fatigue syndrome or fibromyalgia. A systematic literature study was performed. Using specific keywords related to fibromyalgia or chronic fatigue syndrome and relaxation therapy, the electronic databases PubMed and Web of Science were searched. Included articles were assessed for their risk of bias and relevant information regarding relaxation was extracted. The review was conducted and reported according to the PRISMA-statement. Thirteen randomized clinical trials of sufficient quality were included, resulting in a total of 650 fibromyalgia patients (11 studies) and 88 chronic fatigue syndrome patients (3 studies). None of the studies reported effects on autonomic function. Six studies reported the effect of guided imagery on pain and daily functioning in fibromyalgia. The acute effect of a single session of guided imagery was studied in two studies and seems beneficial for pain relief. For other relaxation techniques (eg. muscle relaxation, autogenic training) no conclusive evidence was found for the effect on pain and functioning in fibromyalgia patients comparison to multimodal treatment programs. For fatigue a multimodal approach seemed better than relaxation, as shown in the sole three studies on chronic fatigue syndrome patients. There is moderate evidence for the acute effect of guided imagery on pain, although the content of the visualization is a matter of debate. Other relaxation formats and the effects on functionality and autonomic function require further study. © The Author(s) 2014.

Monitoring somatic symptoms in patients with mental disorders: Sensitivity to change and minimal clinically important difference of the Somatic Symptom Scale - 8 (SSS-8).

Science.gov (United States)

Gierk, Benjamin; Kohlmann, Sebastian; Hagemann-Goebel, Marion; Löwe, Bernd; Nestoriuc, Yvonne

2017-09-01

The SSS-8 is a brief questionnaire for the assessment of somatic symptom burden. This study examines its sensitivity to change and the minimal clinically important difference (MCID) in patients with mental disorders. 55 outpatients with mental disorders completed the SSS-8 and measures of anxiety, depression, and disability before and after receiving treatment. Effect sizes and correlations between the change scores were calculated. The MCID was estimated using a one standard error of measurement threshold and the change in disability as an external criterion. There was a medium decline in somatic symptom burden for the complete sample (n=55, d z =0.53) and a large decline in a subgroup with very high somatic symptom burden at baseline (n=11, d z =0.94). Decreases in somatic symptom burden were associated with decreases in anxiety (r=0.68, pSSS-8 is sensitive to change. A 3-point decrease reflects a clinically important improvement. Due to its brevity and sound psychometric properties, the SSS-8 is useful for monitoring somatic symptom burden. Copyright © 2017 Elsevier Inc. All rights reserved.

MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance.

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Kwok, Brian; Hall, Jeff M; Witte, John S; Xu, Yin; Reddy, Prashanti; Lin, Keming; Flamholz, Rachel; Dabbas, Bashar; Yung, Aine; Al-Hafidh, Jenan; Balmert, Emily; Vaupel, Christine; El Hader, Carlos; McGinniss, Matthew J; Nahas, Shareef A; Kines, Julie; Bejar, Rafael

2015-11-19

Establishing a diagnosis in patients suspected of having a myelodysplastic syndrome (MDS) can be challenging and could be informed by the identification of somatic mutations. We performed a prospective study to examine the frequency and types of mutations encountered in 144 patients with unexplained cytopenias. Based on bone marrow findings, 17% were diagnosed with MDS, 15% with idiopathic cytopenias of undetermined significance (ICUS) and some evidence of dysplasia, and 69% with ICUS and no dysplasia. Bone marrow DNA was sequenced for mutations in 22 frequently mutated myeloid malignancy genes. Somatic mutations were identified in 71% of MDS patients, 62% of patients with ICUS and some dysplasia, and 20% of ICUS patients and no dysplasia. In total, 35% of ICUS patients carried a somatic mutation or chromosomal abnormality indicative of clonal hematopoiesis. We validated these results in a cohort of 91 lower-risk MDS and 249 ICUS cases identified over a 6-month interval. Mutations were found in 79% of those with MDS, in 45% of those with ICUS with dysplasia, and in 17% of those with ICUS without dysplasia. The spectrum of mutated genes was similar with the exception of SF3B1 which was rarely mutated in patients without dysplasia. Variant allele fractions were comparable between clonal ICUS (CCUS) and MDS as were mean age and blood counts. We demonstrate that CCUS is a more frequent diagnosis than MDS in cytopenic patients. Clinical and mutational features are similar in these groups and may have diagnostic utility once outcomes in CCUS patients are better understood. © 2015 by The American Society of Hematology.

Current State of the Art: Management of Higher Risk Myelodysplastic Syndromes.

Science.gov (United States)

Komrokji, Rami S

2016-08-01

The higher risk myelodysplastic syndrome (MDS) patients, defined by the International Prognostic Scoring System (IPSS) as intermediate-2 or high-risk groups, compromise a third of MDS patients who have an expected survival of less than 1.5 years. Our ability to better define higher risk MDS improved with the proposal of new clinical risk models such as the revised IPSS and by integration of molecular data, including somatic gene mutations. Allogeneic hematopoietic stem-cell transplantation (AHSCT) remains the only curative option. In higher risk MDS patients, proceeding early with AHSCT is associated with maximum survival gain. The decision to pursue AHSCT is individualized according to disease risk, comorbidities, and functional status. The role of therapy before AHSCT remains controversial, and the role of post-AHSCT maintenance is evolving. Hypomethylating agents are the only medications that alter the natural history of the disease. Azacitidine is the only drug reported to improve overall survival in higher risk MDS patients. Appropriate use and assessment of response is key for assuring patients benefit of such limited options. Treatment after failure of hypomethylating agents is an unmet need. The role of detectable somatic gene mutations in prognosis and tailoring therapy continue to emerge. Copyright © 2016 Elsevier Inc. All rights reserved.

Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing

Science.gov (United States)

Lohr, Jens G.; Stojanov, Petar; Lawrence, Michael S.; Auclair, Daniel; Chapuy, Bjoern; Sougnez, Carrie; Cruz-Gordillo, Peter; Knoechel, Birgit; Asmann, Yan W.; Slager, Susan L.; Novak, Anne J.; Dogan, Ahmet; Ansell, Stephen M.; Zou, Lihua; Gould, Joshua; Saksena, Gordon; Stransky, Nicolas; Rangel-Escareño, Claudia; Fernandez-Lopez, Juan Carlos; Hidalgo-Miranda, Alfredo; Melendez-Zajgla, Jorge; Hernández-Lemus, Enrique; Schwarz-Cruz y Celis, Angela; Imaz-Rosshandler, Ivan; Ojesina, Akinyemi I.; Jung, Joonil; Pedamallu, Chandra S.; Lander, Eric S.; Habermann, Thomas M.; Cerhan, James R.; Shipp, Margaret A.; Getz, Gad; Golub, Todd R.

2012-01-01

To gain insight into the genomic basis of diffuse large B-cell lymphoma (DLBCL), we performed massively parallel whole-exome sequencing of 55 primary tumor samples from patients with DLBCL and matched normal tissue. We identified recurrent mutations in genes that are well known to be functionally relevant in DLBCL, including MYD88, CARD11, EZH2, and CREBBP. We also identified somatic mutations in genes for which a functional role in DLBCL has not been previously suspected. These genes include MEF2B, MLL2, BTG1, GNA13, ACTB, P2RY8, PCLO, and TNFRSF14. Further, we show that BCL2 mutations commonly occur in patients with BCL2/IgH rearrangements as a result of somatic hypermutation normally occurring at the IgH locus. The BCL2 point mutations are primarily synonymous, and likely caused by activation-induced cytidine deaminase–mediated somatic hypermutation, as shown by comprehensive analysis of enrichment of mutations in WRCY target motifs. Those nonsynonymous mutations that are observed tend to be found outside of the functionally important BH domains of the protein, suggesting that strong negative selection against BCL2 loss-of-function mutations is at play. Last, by using an algorithm designed to identify likely functionally relevant but infrequent mutations, we identify KRAS, BRAF, and NOTCH1 as likely drivers of DLBCL pathogenesis in some patients. Our data provide an unbiased view of the landscape of mutations in DLBCL, and this in turn may point toward new therapeutic strategies for the disease. PMID:22343534

Mathematics Interventions for Students with High Functioning Autism/Asperger's Syndrome

Science.gov (United States)

Donaldson, Jeffrey B.; Zager, Dianne

2010-01-01

Teachers are often at a loss when considering how to address mathematics difficulties for students with high functioning autism/Asperger's syndrome (HFA/AS). Students may show difficulty remembering operations throughout an equation, organizing information on the page, and comprehending the language in instructions of word problems. These…

Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome.

Science.gov (United States)

de Kock, Leanne; Druker, Harriet; Weber, Evan; Hamel, Nancy; Traubici, Jeffrey; Malkin, David; Arseneau, Jocelyne; Stewart, Colin J R; Bouron-Dal Soglio, Dorothée; Priest, John R; Foulkes, William D

2015-06-01

Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These "hotspot" mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1-associated tumors. Copyright © 2015 Elsevier Inc. All rights reserved.

Polyphenols distributions and reserve substances analysis in cacao somatic embryogenesis

OpenAIRE

Adriana María Gallego Rúa; Ana María Henao Ramírez; Aura Inés Urrea Trujillo; Lucía Atehortúa Garcés

2016-01-01

ABSTRACTIn order to understand the causes of lack of regeneration in cacao somatic embryos, two cacao varieties with different responses to regeneration potential were described based on their capacity to store different compounds. It is well known that seed reserves play a central role in the regenerative capability of somatic embryos; thus, we followed histochemical changes and reserve fluctuations of proteins, polysaccharides and polyphenols during somatic embryogenesis (SE) in the two cac...

POLYPHENOLS DISTRIBUTION AND RESERVE SUBSTANCES ANALYSIS IN CACAO SOMATIC EMBRYOGENESIS

OpenAIRE

GALLEGO RÚA, Adriana María; HENAO RAMÍREZ, Ana María; URREA TRUJILLO, Aura Inés; ATEHORTÚA GARCÉS, Lucía

2016-01-01

In order to understand the causes of lack of regeneration in cacao somatic embryos, two cacao varieties with different responses to regeneration potential were described based on their capacity to store different compounds. It is well known that seed reserves play a central role in the regenerative capability of somatic embryos; thus, we followed histochemical changes and reserve fluctuations of proteins, polysaccharides and polyphenols during somatic embryogenesis (SE) in the two cacao varie...

Metabolic syndrome, activity of the hypothalamic-pituitary-adrenal axis and inflammatory mediators in depressive disorder.

Science.gov (United States)

Martinac, Marko; Pehar, Davor; Karlović, Dalibor; Babić, Dragan; Marcinko, Darko; Jakovljević, Miro

2014-03-01

Depression has been associated with various cardiovascular risk factors such as hypertension, obesity, atherogenic dyslipidemia and hyperglycemia. In depressive disorder, hyperactivity of the hypothalamic-pituitary-adrenal (HPA) axis and changes in the immune system have been observed. On the other hand, somatic diseases such as obesity, hyperlipidemia, hypertension and diabetes mellitus type 2 are now perceived as important comorbid conditions in patients with depression. The pathogenesis of the metabolic syndrome and depression is complex and poorly researched; however, it is considered that the interaction of chronic stress, psychotrauma, hypercotisolism and disturbed immune functions contribute to the development of these disorders. The aim of the study was to investigate the relationship between depression and metabolic syndrome regarding the HPA axis dysfunction and altered inflammatory processes. Literature search in Medline and other databases included articles written in English published between 1985 and 2012. Analysis of the literature was conducted using a systematic approach with the search terms such as depression, metabolic syndrome, inflammation, cytokines, glucocorticoids, cortisol, and HPA axis. In conclusion, the relationship between depression and metabolic syndrome is still a subject of controversy. Further prospective studies are required to clarify the possible causal relationship between depression and metabolic syndrome and its components. Furthermore, it is important to explore the possibility of a common biologic mechanism in the pathogenesis of these two disorders, in which special attention should be paid to the immune system function, especially the possible specific mechanisms by which cytokines can induce and maintain depressive symptoms and metabolic disorders. The data presented here emphasize the importance of recognition and treatment of depressive disorders with consequent reduction in the incidence of metabolic syndrome, but

Testicular dysgenesis syndrome and Leydig cell function

DEFF Research Database (Denmark)

Joensen, U.N.; Jorgensen, N.; Rajpert-De, Meyts E.

2008-01-01

Fertility among human beings appear to be on the decline in many Western countries, and part of the explanation may be decreasing male fecundity. A hypothesis has been put forward that decreasing semen quality may be associated with a testicular dysgenesis syndrome (TDS), a spectrum of disorders...... originating in early foetal life. TDS comprises various aspects of impaired gonadal development and function, including testicular cancer. A growing body of evidence, including animal models and research in human beings, points to lifestyle factors and endocrine disrupters as risk factors for TDS. We present...

Turner syndrome: neuroimaging findings: structural and functional.

LENUS (Irish Health Repository)

Mullaney, Ronan

2009-01-01

Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including the parietal lobe; cerebellum, amygdala, hippocampus; and basal ganglia; and perhaps differences in "connectivity" between frontal and parieto-occipital regions. Finally, there is preliminary evidence that genomic imprinting, sex hormones and growth hormone have significant modulatory effects on brain maturation in TS.

Effect of Dance Exercise on Cognitive Function in Elderly Patients with Metabolic Syndrome: A Pilot Study

Science.gov (United States)

Kim, Se-Hong; Kim, Minjeong; Ahn, Yu-Bae; Lim, Hyun-Kook; Kang, Sung-Goo; Cho, Jung-hyoun; Park, Seo-Jin; Song, Sang-Wook

2011-01-01

Metabolic syndrome is associated with an increased risk of cognitive impairment. The purpose of this prospective pilot study was to examine the effects of dance exercise on cognitive function in elderly patients with metabolic syndrome. The participants included 38 elderly metabolic syndrome patients with normal cognitive function (26 exercise group and 12 control group). The exercise group performed dance exercise twice a week for 6 months. Cognitive function was assessed in all participants using the Korean version of the Consortium to Establish a Registry for Alzheimer’s disease (CERAD-K). Repeated-measures ANCOVA was used to assess the effect of dance exercise on cognitive function and cardiometabolic risk factors. Compared with the control group, the exercise group significantly improved in verbal fluency (p = 0.048), word list delayed recall (p = 0.038), word list recognition (p = 0.007), and total CERAD-K score (p = 0.037). However, no significance difference was found in body mass index, blood pressure, waist circumference, fasting plasma glucose, triglyceride, and HDL cholesterol between groups over the 6-month period. In the present study, six months of dance exercise improved cognitive function in older adults with metabolic syndrome. Thus, dance exercise may reduce the risk for cognitive disorders in elderly people with metabolic syndrome. Key points Metabolic syndrome (MS) is associated with an increased risk of cognitive impairment. Aerobic exercise improves cognitive function in elderly people and contributes to the prevention of degenerative neurological disease and brain damage. Dance sport is a form of aerobic exercise that has the additional benefits of stimulating the emotions, promoting social interaction, and exposing subjects to acoustic stimulation and music. In the present study, dance exercise for a 6-month period improved cognitive function in older adults with MS. In particular, positive effects were observed in verbal fluency, word

Effect of dance exercise on cognitive function in elderly patients with metabolic syndrome: a pilot study.

Science.gov (United States)

Kim, Se-Hong; Kim, Minjeong; Ahn, Yu-Bae; Lim, Hyun-Kook; Kang, Sung-Goo; Cho, Jung-Hyoun; Park, Seo-Jin; Song, Sang-Wook

2011-01-01

Metabolic syndrome is associated with an increased risk of cognitive impairment. The purpose of this prospective pilot study was to examine the effects of dance exercise on cognitive function in elderly patients with metabolic syndrome. The participants included 38 elderly metabolic syndrome patients with normal cognitive function (26 exercise group and 12 control group). The exercise group performed dance exercise twice a week for 6 months. Cognitive function was assessed in all participants using the Korean version of the Consortium to Establish a Registry for Alzheimer's disease (CERAD-K). Repeated-measures ANCOVA was used to assess the effect of dance exercise on cognitive function and cardiometabolic risk factors. Compared with the control group, the exercise group significantly improved in verbal fluency (p = 0.048), word list delayed recall (p = 0.038), word list recognition (p = 0.007), and total CERAD-K score (p = 0.037). However, no significance difference was found in body mass index, blood pressure, waist circumference, fasting plasma glucose, triglyceride, and HDL cholesterol between groups over the 6-month period. In the present study, six months of dance exercise improved cognitive function in older adults with metabolic syndrome. Thus, dance exercise may reduce the risk for cognitive disorders in elderly people with metabolic syndrome. Key pointsMetabolic syndrome (MS) is associated with an increased risk of cognitive impairment.Aerobic exercise improves cognitive function in elderly people and contributes to the prevention of degenerative neurological disease and brain damage. Dance sport is a form of aerobic exercise that has the additional benefits of stimulating the emotions, promoting social interaction, and exposing subjects to acoustic stimulation and music.In the present study, dance exercise for a 6-month period improved cognitive function in older adults with MS. In particular, positive effects were observed in verbal fluency, word list

Functional abdominal pain syndrome treated with Korean medication

OpenAIRE

Chang-Gue Son

2014-01-01

A 37-year-old female patient with chronic and stubborn abdominal pain had been hospitalized five times in three Western hospitals, but no effects were observed. No abnormalities were found in blood tests, gastrointestinal endoscopy, sonogram, and computed tomography of the abdomen, except mild paralytic ileus. The patient decided to rely on Korean medicine as an inpatient. She was diagnosed with functional abdominal pain syndrome, and her symptom differentiation was the ?Yang deficiency of sp...

In vitro somatic embryogenesis and plant regeneration of cassava.

Science.gov (United States)

Szabados, L; Hoyos, R; Roca, W

1987-06-01

An efficient and reproducible plant regeneration system, initiated in somatic tissues, has been devised for cassava (Manihot esculenta Crantz). Somatic embryogenesis has been induced from shoot tips and immature leaves of in vitro shoot cultures of 15 cassava genotypes. Somatic embryos developed directly on the explants when cultured on a medium containing 4-16 mg/l 2,4-D. Differences were observed with respect to the embryogenic capacity of the explants of different varieties. Secondary embryogenesis has been induced by subculture on solid or liquid induction medium. Long term cultures were established and maintained for up to 18 months by repeated subculture of the proliferating somatic embryos. Plantlets developed from primary and secondary embryos in the presence of 0.1 mg/l BAP, 1mg/l GA3, and 0.01 mg/l 2,4-D. Regenerated plants were transferred to the field, and were grown to maturity.

THE IMPORTANCE OF HERPESVIRUSES IN THE ETIOLOGY OF A NUMBER OF INFECTIOUS AND SOMATIC DISEASES OF CHILDREN

Directory of Open Access Journals (Sweden)

T. N. Rybalkina

2017-01-01

Full Text Available The article is devoted to study the etiological role of herpes viruses in infectious and somatic pathology of children (n = 770 using the complex of methods of laboratory diagnostics. Determined the leading etiological role of HSV in children with neuroinfections (12,7% during primary infection and in children with intrauterine infection (29,0% during its reactivation. It is shown that in 50,9% of cases, the diagnosis of «infectious mononucleosis» confirmed by the detection of markers of acute EBV-infection, and 20,0%, it was replaced by mononucleotides syndrome was discovered markers of acute CMV-infection, and 18,1% — markers of acute HHV-6-infection. The role of HHV-6 as the primary etiologic agent of the disease is established at 36,3% of children admitted with convulsive syndrome on the background of febrile, at 29,1% — a sudden exanthema and 25,5% — with fever of unknown origin.  

A threshold in the dose-response relationship for X-ray induced somatic mutation frequency in drosophila melanogaster

International Nuclear Information System (INIS)

Koana, Takao; Sakai, Kazuo; Okada, M.O.

2004-01-01

The dose-response relationship of ionizing radiation and its stochastic effects has been thought to be linear without any thresholds for a long time. The basic data for this model was obtained from mutational assays using germ cells of male fruit fly Drosophila melanogaster. However, cancer-causing activity should be examined more appropriately in somatic cells than in germ cells. In this paper, we examined the dose-response relationship of X-ray irradiation and somatic mutation in drosophila, and found a threshold at approximately 1 Gy in the DNA repair proficient flies. In the repair deficient siblings, the threshold was smaller and the inclination of the dose-response curve was five times steeper. These results suggest that the dose-response relationship between X-ray irradiation and somatic mutation has a threshold, and that the DNA repair function contributes to its formation. (author)

Alcohol dependence and risk of somatic diseases and mortality

DEFF Research Database (Denmark)

Holst, Charlotte; Tolstrup, Janne Schurmann; Sørensen, Holger Jelling

2017-01-01

AIMS: To (1) estimate sex-specific risks of a comprehensive spectrum of somatic diseases in alcohol-dependent individuals versus a control population, and in the same population to (2) estimate sex-specific risks of dying from the examined somatic diseases. DESIGN: Register-based matched cohort...

Mouse cloning and somatic cell reprogramming using electrofused blastomeres.

Science.gov (United States)

Riaz, Amjad; Zhao, Xiaoyang; Dai, Xiangpeng; Li, Wei; Liu, Lei; Wan, Haifeng; Yu, Yang; Wang, Liu; Zhou, Qi

2011-05-01

Mouse cloning from fertilized eggs can assist development of approaches for the production of "genetically tailored" human embryonic stem (ES) cell lines that are not constrained by the limitations of oocyte availability. However, to date only zygotes have been successfully used as recipients of nuclei from terminally differentiated somatic cell donors leading to ES cell lines. In fertility clinics, embryos of advanced embryonic stages are usually stored for future use, but their ability to support the derivation of ES cell lines via somatic nuclear transfer has not yet been proved. Here, we report that two-cell stage electrofused mouse embryos, arrested in mitosis, can support developmental reprogramming of nuclei from donor cells ranging from blastomeres to somatic cells. Live, full-term cloned pups from embryonic donors, as well as pluripotent ES cell lines from embryonic or somatic donors, were successfully generated from these reconstructed embryos. Advanced stage pre-implantation embryos were unable to develop normally to term after electrofusion and transfer of a somatic cell nucleus, indicating that discarded pre-implantation human embryos could be an important resource for research that minimizes the ethical concerns for human therapeutic cloning. Our approach provides an attractive and practical alternative to therapeutic cloning using donated oocytes for the generation of patient-specific human ES cell lines.

Identification and characterization of bZIP-type transcription factors involved in carrot (Daucus carota L.) somatic embryogenesis.

Science.gov (United States)

Guan, Yucheng; Ren, Haibo; Xie, He; Ma, Zeyang; Chen, Fan

2009-10-01

Seed dormancy is an important adaptive trait that enables seeds of many species to remain quiescent until conditions become favorable for germination. Abscisic acid (ABA) plays an important role in these developmental processes. Like dormancy and germination, the elongation of carrot somatic embryo radicles is retarded by sucrose concentrations at or above 6%, and normal growth resumes at sucrose concentrations below 3%. Using a yeast one-hybrid screening system, we isolated two bZIP-type transcription factors, CAREB1 and CAREB2, from a cDNA library prepared from carrot somatic embryos cultured in a high-sucrose medium. Both CAREB1 and CAREB2 were localized to the nucleus, and specifically bound to the ABA response element (ABRE) in the Dc3 promoter. Expression of CAREB2 was induced in seedlings by drought and exogenous ABA application; whereas expression of CAREB1 increased during late embryogenesis, and reduced dramatically when somatic embryos were treated with fluridone, an inhibitor of ABA synthesis. Overexpression of CAREB1 caused somatic embryos to develop slowly when cultured in low-sucrose medium, and retarded the elongation of the radicles. These results indicate that CAREB1 and CAREB2 have similar DNA-binding activities, but play different roles during carrot development. Our results indicate that CAREB1 functions as an important trans-acting factor in the ABA signal transduction pathway during carrot somatic embryogenesis.

Myocardial function and perfusion in the CREST syndrome variant of progressive systemic sclerosis. Exercise radionuclide evaluation and comparison with diffuse scleroderma

International Nuclear Information System (INIS)

Follansbee, W.P.; Curtiss, E.I.; Medsger, T.A. Jr.; Owens, G.R.; Steen, V.D.; Rodnan, G.P.

1984-01-01

Myocardial function and perfusion were evaluated in 22 patients with progressive systemic sclerosis with the CREST syndrome using exercise and radionuclide techniques, pulmonary function testing, and chest roentgenography. The results were compared with a similar study of 26 patients with progressive systemic sclerosis with diffuse scleroderma. The prevalence of thallium perfusion abnormalities was similar in the groups with CREST syndrome and diffuse scleroderma, (64 percent versus 77 percent), but the defects were significantly smaller in the CREST syndrome (p less than 0.01). Reperfusion thallium defects in the absence of extramural coronary artery disease were seen in 38 percent of patients with diffuse scleroderma. This finding was not seen in any of the patients with the CREST syndrome. In diffuse scleroderma, abnormalities of both right and left ventricular function were related to larger thallium perfusion defects. In the CREST syndrome, abnormalities of left ventricular function were minor, were seen only during exercise, and were unrelated to thallium perfusion defects. Abnormal resting right ventricular function was seen in 36 percent of the patients with the CREST syndrome and was associated with an isolated decrease in diffusing capacity of carbon monoxide. It is concluded that the cardiac manifestations of the CREST syndrome are distinct from those found in diffuse scleroderma. Unlike diffuse scleroderma, abnormalities of left ventricular function in the CREST syndrome are minor and are unrelated to abnormalities of coronary perfusion. Right ventricular dysfunction in the CREST syndrome appears to be primarily related to pulmonary vascular disease

POLE somatic mutations in advanced colorectal cancer.

Science.gov (United States)

Guerra, Joana; Pinto, Carla; Pinto, Diana; Pinheiro, Manuela; Silva, Romina; Peixoto, Ana; Rocha, Patrícia; Veiga, Isabel; Santos, Catarina; Santos, Rui; Cabreira, Verónica; Lopes, Paula; Henrique, Rui; Teixeira, Manuel R

2017-12-01

Despite all the knowledge already gathered, the picture of somatic genetic changes in colorectal tumorigenesis is far from complete. Recently, germline and somatic mutations in the exonuclease domain of polymerase epsilon, catalytic subunit (POLE) gene have been reported in a small subset of microsatellite-stable and hypermutated colorectal carcinomas (CRCs), affecting the proofreading activity of the enzyme and leading to misincorporation of bases during DNA replication. To evaluate the role of POLE mutations in colorectal carcinogenesis, namely in advanced CRC, we searched for somatic mutations by Sanger sequencing in tumor DNA samples from 307 cases. Microsatellite instability and mutation analyses of a panel of oncogenes were performed in the tumors harboring POLE mutations. Three heterozygous mutations were found in two tumors, the c.857C>G, p.Pro286Arg, the c.901G>A, p.Asp301Asn, and the c.1376C>T, p.Ser459Phe. Of the POLE-mutated CRCs, one tumor was microsatellite-stable and the other had low microsatellite instability, whereas KRAS and PIK3CA mutations were found in one tumor each. We conclude that POLE somatic mutations exist but are rare in advanced CRC, with further larger studies being necessary to evaluate its biological and clinical implications. © 2017 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

Abnormal Liver Function Tests in an Anorexia Nervosa Patient and an Atypical Manifestation of Refeeding Syndrome.

Science.gov (United States)

Vootla, Vamshidhar R; Daniel, Myrta

2015-01-01

Refeeding syndrome is defined as electrolyte and fluid abnormalities that occur in significantly malnourished patients when they are refed orally, enterally, or parenterally. The principal manifestations include hypophosphatemia, hypokalemia, vitamin deficiencies, volume overload and edema. This can affect multiple organ systems, such as the cardiovascular, pulmonary, or neurological systems, secondary to the above-mentioned abnormalities. Rarely, patients may develop gastrointestinal symptoms and show abnormal liver function test results. We report the case of a 52-year-old woman with anorexia nervosa who developed refeeding syndrome and simultaneous elevations of liver function test results, which normalized upon the resolution of the refeeding syndrome.

Characterization of somatic embryo attached structures in Feijoa sellowiana Berg. (Myrtaceae).

Science.gov (United States)

Correia, Sandra M; Canhoto, Jorge M

2010-06-01

The presence of an attached organ to somatic embryos of angiosperms connecting the embryo to the supporting tissue has been a subject of controversy. This study shows that 67% of the morphologically normal somatic embryos of Feijoa sellowiana possess this type of organ and that its formation was not affected by culture media composition. Histological and ultrastructural analysis indicated that the attached structures of somatic embryos displayed a great morphological diversity ranging from a few cells to massive and columnar structures. This contrast with the simple suspensors observed in zygotic embryos which were only formed by five cells. As well as the suspensor of zygotic embryos, somatic embryo attached structures undergo a process of degeneration in later stages of embryo development. Other characteristic shared by zygotic suspensors and somatic embryo attached structures was the presence of thick cell walls surrounding the cells. Elongated thin filaments were often associated with the structures attached to somatic embryos, whereas in other cases, tubular cells containing starch grains connected the embryo to the supporting tissue. These characteristics associated with the presence of plasmodesmata in the cells of the attached structures seem to indicate a role on embryo nutrition. However, cell proliferation in the attached structures resulting into new somatic embryos may also suggest a more complex relationship between the embryo and the structures connecting it to the supporting tissue.

Comparison of medical costs generated by IBS patients in primary and secondary care in the Netherlands

NARCIS (Netherlands)

Flik, Carla E.; Laan, Wijnand; Smout, Andre J. P. M.; Weusten, Bas L. A. M.; de Wit, Niek J.

2015-01-01

Background: Irritable Bowel Syndrome (IBS) is a functional somatic syndrome characterized by patterns of persistent bodily complaints for which a thorough diagnostic workup does not reveal adequate explanatory structural pathology. Detailed insight into disease-specific health-care costs is critical

Management of burning mouth syndrome taking into consideration various etiologic factors.

Science.gov (United States)

Kenchadze, R L; Ivereli, M B; Geladze, N M; Khachapuridze, N S; Bakhtadze, S Z

2013-05-01

The aim of the research was to detect the stomatologic, endocrine and psycho-neurologic status in patients with burning mouth syndrome, elaborate different diagnostic criteria and effective therapy for the patients with burning mouth syndrome. 92 patients with burning mouth syndrome were studied. Patients ranged in age from 28 to 72 years. The conducted studies gave the possibility to make conclusions, the most important of which are: burning mouth syndrome (BMS) is not only stomatologic problem; this psychosomatic syndrome belongs to gerontologic disease and tendency of its "rejuvenation" was revealed as well (in the current study --2 women (28 and 32 year old, and 38 year old man); degree of revelation of the symptoms of depression, anxiety, obsession and somatization is closely related with duration of the diseases. These symptoms are progressing together with aging and reach the peak at 60-70 years old. Individual scheme of therapy was developed on the background of clinico-paraclinical study.

Improving somatic health of outpatients with severe mental illness

NARCIS (Netherlands)

Van Hasselt, Fenneke M.; Oud, Marian J. T.; Krabbe, Paul F. M.; Postma, Maarten J.; Loonen, A.J.M.

2014-01-01

Background: Patients with severe mental illness (SMI) experience a 13-to 30-year reduction in life expectancy compared with the general population. The majority of these deaths can be attributed to somatic health problems. The risk on somatic health problems is partly increased due to a reduced

Somatic embryogenesis and plant regeneration from leaf explants of ...

African Journals Online (AJOL)

An attempt was made to study the somatic embryogenesis and plant regeneration from the in vitro leaf explants of Rumex vesicarius L. a renowned medicinal plant, which belongs to polygonaceae family. Effective in vitro regeneration of R. vesicarius was achieved via young leaf derived somatic embryo cultures.

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Lifescience Database Archive (English)

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Somatic mutations in histiocytic sarcoma identified by next generation sequencing.

Science.gov (United States)

Liu, Qingqing; Tomaszewicz, Keith; Hutchinson, Lloyd; Hornick, Jason L; Woda, Bruce; Yu, Hongbo

2016-08-01

Histiocytic sarcoma is a rare malignant neoplasm of presumed hematopoietic origin showing morphologic and immunophenotypic evidence of histiocytic differentiation. Somatic mutation importance in the pathogenesis or disease progression of histiocytic sarcoma was largely unknown. To identify somatic mutations in histiocytic sarcoma, we studied 5 histiocytic sarcomas [3 female and 2 male patients; mean age 54.8 (20-72), anatomic sites include lymph node, uterus, and pleura] and matched normal tissues from each patient as germ line controls. Somatic mutations in 50 "Hotspot" oncogenes and tumor suppressor genes were examined using next generation sequencing. Three (out of five) histiocytic sarcoma cases carried somatic mutations in BRAF. Among them, G464V [variant frequency (VF) of 43.6 %] and G466R (VF of 29.6 %) located at the P loop potentially interfere with the hydrophobic interaction between P and activating loops and ultimately activation of BRAF. Also detected was BRAF somatic mutation N581S (VF of 7.4 %), which was located at the catalytic loop of BRAF kinase domain: its role in modifying kinase activity was unclear. A similar mutational analysis was also performed on nine acute monocytic/monoblastic leukemia cases, which did not identify any BRAF somatic mutations. Our study detected several BRAF mutations in histiocytic sarcomas, which may be important in understanding the tumorigenesis of this rare neoplasm and providing mechanisms for potential therapeutical opportunities.

Hypochondriasis and somatization: two distinct aspects of somatoform disorders?

Science.gov (United States)

Leibbrand, R; Hiller, W; Fichter, M M

2000-01-01

We investigated boundaries and overlap between somatization and hypochondriasis on different levels of psychopathology: (1) comorbidity between hypochondriasis and somatization on the level of diagnoses in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV; American Psychiatric Association, 1994): (2) comorbidity with other mental disorders; (3) differences in clinical characteristics: and (4) overlap on the level of psychometric measures. The sample consisted of 120 psycho somatic inpatients. Somatoform, hypochondriacal, and depressive symptomatology, cognitions about body and health, and further aspects of general symptomatology were investigated. Diagnoses of Axis I and II were based on DSM-IV Our results suggest a large overlap on the level of DSM-IV-diagnoses: only 3 of 31 hypochondriacal patients had no multiple somatoform symptoms, while 58 of 86 patients with multiple somatoform symptoms had no hypochondriasis. However, the overlap between hypochondriacal and somatization symptomatology on the level of psychometric measurement is only moderate, indicating that hypochondriasis is a markedly distinct aspect of somatoform disorders.

Zygotic and somatic embryo morphogenesis in Pinus pinaster: comparative histological and histochemical study.

Science.gov (United States)

Tereso, Susana; Zoglauer, Kurt; Milhinhos, Ana; Miguel, Célia; Oliveira, M Margarida

2007-05-01

We compared morphogenesis and accumulation of storage proteins and starch in Pinus pinaster Ait. zygotic embryos with those in somatic embryos grown with different carbohydrate sources. The maturation medium for somatic embryos included 80 microM abscisic acid (ABA), 9 g l(-1) gellam gum and either glucose, sucrose or maltose at 44, 88, 175 or 263 mM in the presence or absence of 6% (w/v) polyethylene glycol (PEG) 4000 MW. Maturation medium containing 44 or 88 mM of a carbohydrate source produced only one or no cotyledonary somatic embryos per 0.6 g fresh mass of culture. The addition of PEG to the basal maturation medium resulted in a low yield of cotyledonary somatic embryos that generally showed incomplete development and anatomical abnormalities such as large intercellular spaces and large vacuoles. High concentrations of maltose also induced large intercellular spaces in the somatic embryonic cells, and 263 mM sucrose produced fewer and less developed cotyledonary somatic embryos compared with 175 mM sucrose, indicating that the effect of carbohydrate source is partially osmotic. Zygotic embryos had a lower dry mass than somatic embryos at the same stage of development. Starch granules followed a similar accumulation pattern in zygotic and somatic embryos. A low starch content was found in cotyledonary zygotic embryos and in somatic embryos developed in the presence of 175 mM maltose or 263 mM glucose. In zygotic embryos and in PEG-treated somatic embryos, protein bodies appeared later and were smaller and fewer than in well-developed somatic embryos grown without PEG. We propose that storage protein concentration might be a marker of embryo quality.

Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.

Science.gov (United States)

Andrianova, Maria A; Chetan, Ghati Kasturirangan; Sibin, Madathan Kandi; Mckee, Thomas; Merkler, Doron; Narasinga, Rao Kvl; Ribaux, Pascale; Blouin, Jean-Louis; Makrythanasis, Periklis; Seplyarskiy, Vladimir B; Antonarakis, Stylianos E; Nikolaev, Sergey I

2017-11-01

Biallelic mismatch repair deficiency (bMMRD) in tumours is frequently associated with somatic mutations in the exonuclease domains of DNA polymerases POLE or POLD1, and results in a characteristic mutational profile. In this article, we describe the genetic basis of ultramutated high-grade brain tumours in the context of bMMRD. We performed exome sequencing of two second-cousin patients from a large consanguineous family of Indian origin with early onset of high-grade glioblastoma and astrocytoma. We identified a germline homozygous nonsense variant, p.R802*, in the PMS2 gene. Additionally, by genome sequencing of these tumours, we found extremely high somatic mutation rates (237/Mb and 123/Mb), as well as somatic mutations in the proofreading domain of POLE polymerase (p.P436H and p.L424V), which replicates the leading DNA strand. Most interestingly, we found, in both cancers, that the vast majority of mutations were consistent with the signature of POLE exo - , i.e. an abundance of C>A and C>T mutations, particularly in special contexts, on the leading strand. We showed that the fraction of mutations under positive selection among mutations in tumour suppressor genes is more than two-fold lower in ultramutated tumours than in other glioblastomas. Genetic analyses enabled the diagnosis of the two consanguineous childhood brain tumours as being due to a combination of PMS2 germline and POLE somatic variants, and confirmed them as bMMRD/POLE exo - disorders. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Fibromyalgia in patients with irritable bowel syndrome. An association with the severity of the intestinal disorder.

Science.gov (United States)

Lubrano, E; Iovino, P; Tremolaterra, F; Parsons, W J; Ciacci, C; Mazzacca, G

2001-08-01

Fibromyalgia (FM) syndrome and irritable bowel syndrome (IBS) are functional disorders in which altered somatic and or visceral perception thresholds have been found. The aim of this study was to evaluate the prevalence of FM in a group of patients with IBS and the possible association of FM with patterns and severity of the intestinal disorder. One hundred thirty consecutive IBS patients were studied. The IBS was divided into four different patterns according to the predominant bowel symptom and into three levels of severity using a functional severity index. All patients underwent rheumatological evaluation for number of positive tender points, number of tender and swollen joints, markers of inflammation, and presence of headache and weakness. Moreover, patients' assessments of diffuse pain, mood and sleep disturbance, anxiety, and fatigue were also measured on a visual analogue scale. The diagnosis of FM was made based on American College of Rheumatology classification criteria. Nonparametric tests were used for statistical analysis. Fibromyalgia was found in 20% of IBS patients. No statistical association was found between the presence of FM and the type of IBS but a significant association was found between the presence of FM and severity of the intestinal disorder. The presence of FM in IBS patients seems to be associated only with the severity of IBS. This result confirms previous studies on the association between the two syndromes.

Restriction endonuclease analysis of chloroplast DNA in interspecies somatic Hybrids of Petunia.

Science.gov (United States)

Kumar, A; Cocking, E C; Bovenberg, W A; Kool, A J

1982-12-01

Restriction endonuclease cleavage pattern analysis of chloroplast DNA (cpDNA) of three different interspecific somatic hybrid plants revealed that the cytoplasms of the hybrids contained only cpDNA of P. parodii. The somatic hybrid plants analysed were those between P. parodii (wild type) + P. hybrida (wild type); P. parodii (wild type)+P. inflata (cytoplasmic albino mutant); P. parodii (wild type) + P. parviflora (nuclear albino mutant). The presence of only P. parodii chloroplasts in the somatic hybrid of P. parodii + P. inflata is possibly due to the stringent selection used for somatic hybrid production. However, in the case of the two other somatic hybrids P. parodii + P. hybrida and P. parodii + P. parviflora it was not possible to determine whether the presence of only P. parodii chloroplasts in these somatic hybrid plants was due to the nature of the selection schemes used or simply occurred by chance. The relevance of such somatic hybrid material for the study of genomic-cytoplasmic interaction is discussed, as well as the use of restriction endonuclease fragment patterns for the analysis of taxonomic and evolutionary inter-relationships in the genus Petunia.

Munchausen Syndrome and the Wide Spectrum of Factitious Disorders.

Science.gov (United States)

Tatu, Laurent; Aybek, Selma; Bogousslavsky, Julien

2018-01-01

Since its initial description in 1851, Munchausen syndrome has been widely used interchangeably with factitious disorder. Nevertheless, this syndrome is only one form of factitious disorder that is both severe and chronic. The syndrome was named after Karl Friedrich Hieronymus, Baron von Münchhausen (1720-1797), a German nobleman who became famous as a narrator of false and exaggerated exploits. His name was progressively corrupted to Munchausen. Factitious disorders and Munchausen syndrome remain a great diagnosis challenge for physicians. All medical specialities are concerned by these disorders. The diagnosis process involves a first step to exclude an unusual presentation of a common medical condition. The second step consists of excluding somatoform disorders and malingering. Unfortunately, the boundaries between factitious disorder, somatization, and malingering are often unclear. In 1977, the term "Munchausen's syndrome by proxy" was coined to define a situation where a person produces false symptoms in another one, especially a child. This term was extended to similar interactions between human and pets. Because varied conditions have been included in the definition of this syndrome, there is ongoing debate about alternative names. © 2018 S. Karger AG, Basel.

From culture to symptom: Testing a structural model of "Chinese somatization".

Science.gov (United States)

Zhou, Xiaolu; Peng, Yunshi; Zhu, Xiongzhao; Yao, Shuqiao; Dere, Jessica; Chentsova-Dutton, Yulia E; Ryder, Andrew G

2016-02-01

"Chinese somatization" has been frequently discussed over the past three decades of cultural psychiatry, and has more recently been demonstrated in cross-national comparisons. Empirical studies of potential explanations are lacking, however. Ryder and Chentsova-Dutton (2012) proposed that Chinese somatization can be understood as a cultural script for depression, noting that the literature is divided on whether this script primarily involves felt bodily experience or a stigma-avoiding communication strategy. Two samples from Hunan province, China-one of undergraduate students (n = 213) and one of depressed psychiatric outpatients (n = 281)-completed the same set of self-report questionnaires, including a somatization questionnaire developed in Chinese. Confirmatory factor analysis demonstrated that Chinese somatization could be understood as two correlated factors: one focusing on the experience and expression of distress, the other on its conceptualization and communication. Structural equation modeling demonstrated that traditional Chinese cultural values are associated with both of these factors, but only bodily experience is associated with somatic depressive symptoms. This study takes a first step towards directly evaluating explanations for Chinese somatization, pointing the way to future multimethod investigations of this cultural script. © The Author(s) 2015.

Perceived social support and life satisfaction in persons with somatization disorder

Directory of Open Access Journals (Sweden)

Arif Ali

2010-01-01

Full Text Available Background: Life satisfaction and perceived social support been shown to improve the well-being of a person and also affect the outcome of treatment in somatization disorder. The phenomenon of somatization was explored in relation to the perceived social support and life satisfaction. Aim: This study aimed at investigating perceived social support and life satisfaction in people with somatization disorder. Materials and Methods: The study was conducted on persons having somatization disorder attending the outpatient unit of LGB Regional Institute of Mental Health, Tezpur, Assam. Satisfaction with life scale and multidimensional scale of perceived social support were used to assess life satisfaction and perceived social support respectively. Results: Women reported more somatic symptoms than men. Family perceived social support was high in the patient in comparison to significant others′ perceived social support and friends′ perceived social support. Perceived social support showed that a significant positive correlation was found with life satisfaction. Conclusion: Poor social support and low life satisfaction might be a stress response with regard to increased distress severity and psychosocial stressors rather than a cultural response to express psychological problems in somatic terms.

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).

Science.gov (United States)

Buchanan, Daniel D; Rosty, Christophe; Clendenning, Mark; Spurdle, Amanda B; Win, Aung Ko

2014-01-01

Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening) is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification) and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the data from published studies are combined, 59% (95% confidence interval [CI]: 55% to 64%) of colorectal cancers and 52% (95% CI: 41% to 62%) of endometrial cancers with MMR deficiency were identified as suspected Lynch syndrome. Recent studies estimated that colorectal cancer risk for relatives of suspected Lynch syndrome cases is lower than for relatives of those with MMR gene mutations, but higher than for relatives of those with tumor MMR deficiency resulting from methylation of the MLH1 gene promoter. The cause of tumor MMR deficiency in suspected Lynch syndrome cases is likely due to either unidentified germline MMR gene mutations, somatic cell mosaicism, or biallelic somatic

Radioimmunoassay in assessment of function of the hypothalamo-neurohypophyseal system in patients with hypothalamic syndromes

International Nuclear Information System (INIS)

Slavnov, V.N.; Markov, V.V.; Rudichenko, V.M.

1991-01-01

Radioimmunoassay of vasopressin was conducted before and after drug tests and exercise for assessment of function of the hypothalamo-neurohypophyseal system in 165 patients with hypothalamic syndromes. It was shown that radioimmunoassay gave the adequate information for assessment of function of hypothalamo-neurohypophyseal system on the base of study of basal and stimulated vasopressin secretion. It permits to make an individual choice of the most effective drug for therapy of the hypothalamic syndrome of neuroendocrine-metabolic type

Cloning animals by somatic cell nuclear transfer – biological factors

Science.gov (United States)

Tian, X Cindy; Kubota, Chikara; Enright, Brian; Yang, Xiangzhong

2003-01-01

Cloning by nuclear transfer using mammalian somatic cells has enormous potential application. However, somatic cloning has been inefficient in all species in which live clones have been produced. High abortion and fetal mortality rates are commonly observed. These developmental defects have been attributed to incomplete reprogramming of the somatic nuclei by the cloning process. Various strategies have been used to improve the efficiency of nuclear transfer, however, significant breakthroughs are yet to happen. In this review we will discuss studies conducted, in our laboratories and those of others, to gain a better understanding of nuclear reprogramming. Because cattle are a species widely used for nuclear transfer studies, and more laboratories have succeeded in cloning cattle than any other specie, this review will be focused on somatic cell cloning of cattle. PMID:14614770

A cross-cultural study of the structure of comorbidity among common psychopathological syndromes in the general health care setting

NARCIS (Netherlands)

Krueger, RF; Chentsova-Dutton, YE; Markon, KE; Goldberg, D; Ormel, J

This study presents analyses of 7 common psychopathological syndromes in the World Health Organization (WHO) Collaborative Study of Psychological Problems in General Health Care (T. B. Ustun & N. Sartorius, 1995). Data on depression, somatization, hypochondriasis, neurasthenia, anxious worry,

Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome.

Science.gov (United States)

Ikemoto, Yu; Takayama, Yoshinaga; Fujii, Katsunori; Masuda, Mokuri; Kato, Chise; Hatsuse, Hiromi; Fujitani, Kazuko; Nagao, Kazuaki; Kameyama, Kohzoh; Ikehara, Hajime; Toyoda, Masashi; Umezawa, Akihiro; Miyashita, Toshiyuki

2017-08-01

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterised by developmental defects and tumorigenesis, such as medulloblastomas and basal cell carcinomas, caused by mutations of the patched-1 ( PTCH1 ) gene. In this article, we seek to demonstrate a mosaicism containing double mutations in PTCH1 in an individual with NBCCS. A de novo germline mutation of PTCH1 (c.272delG) was detected in a 31-year-old woman with NBCCS. Gene analysis of two out of four induced pluripotent stem cell (iPSC) clones established from the patient unexpectedly revealed an additional mutation, c.274delT. Deep sequencing confirmed a low-prevalence somatic mutation (5.5%-15.6% depending on the tissue) identical to the one found in iPSC clones. This is the first case of mosaicism unequivocally demonstrated in NBCCS. Furthermore, the mosaicism is unique in that the patient carries one normal and two mutant alleles. Because these mutations are located in close proximity, reversion error is likely to be involved in this event rather than a spontaneous mutation. In addition, this study indicates that gene analysis of iPSC clones can contribute to the detection of mosaicism containing a minor population carrying a second mutation. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Generation of GHR-modified pigs as Laron syndrome models via a dual-sgRNAs/Cas9 system and somatic cell nuclear transfer.

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Yu, Honghao; Long, Weihu; Zhang, Xuezeng; Xu, Kaixiang; Guo, Jianxiong; Zhao, Heng; Li, Honghui; Qing, Yubo; Pan, Weirong; Jia, Baoyu; Zhao, Hong-Ye; Huang, Xingxu; Wei, Hong-Jiang

2018-02-27

Laron syndrome is an autosomal disease resulting from mutations in the growth hormone receptor (GHR) gene. The only therapeutic treatment for Laron syndrome is recombinant insulin-like growth factor I (IGF-I), which has been shown to have various side effects. The improved Laron syndrome models are important for better understanding the pathogenesis of the disease and developing corresponding therapeutics. Pigs have become attractive biomedical models for human condition due to similarities in anatomy, physiology, and metabolism relative to humans, which could serve as an appropriate model for Laron syndrome. To further improve the GHR knockout (GHRKO) efficiency and explore the feasibility of precise DNA deletion at targeted sites, the dual-sgRNAs/Cas9 system was designed to target GHR exon 3 in pig fetal fibroblasts (PFFs). The vectors encoding sgRNAs and Cas9 were co-transfected into PFFs by electroporation and GHRKO cell lines were established by single cell cloning culture. Two biallelic knockout cell lines were selected as the donor cell line for somatic cell nuclear transfer for the generation of GHRKO pigs. The genotype of colonies, cloned fetuses and piglets were identified by T7 endonuclease I (T7ENI) assay and sequencing. The GHR expression in the fibroblasts and piglets was analyzed by confocal microscopy, quantitative polymerase chain reaction (q-PCR), western blotting (WB) and immunohistochemical (IHC) staining. The phenotype of GHRKO pigs was recapitulated through level detection of IGF-I and glucose, and measurement of body weight and body size. GHRKO F1 generation were generated by crossing with wild-type pigs, and their genotype was detected by T7ENI assay and sequencing. GHRKO F2 generation was obtained via self-cross of GHRKO F1 pigs. Their genotypes of GHRKO F2 generation was also detected by Sanger sequencing. In total, 19 of 20 single-cell colonies exhibited biallelic modified GHR (95%), and the efficiency of DNA deletion mediated by dual

Knockout of exogenous EGFP gene in porcine somatic cells using zinc-finger nucleases

International Nuclear Information System (INIS)

Watanabe, Masahito; Umeyama, Kazuhiro; Matsunari, Hitomi; Takayanagi, Shuko; Haruyama, Erika; Nakano, Kazuaki; Fujiwara, Tsukasa; Ikezawa, Yuka; Nakauchi, Hiromitsu

2010-01-01

Research highlights: → EGFP gene integrated in porcine somatic cells could be knocked out using the ZFN-KO system. → ZFNs induced targeted mutations in porcine primary cultured cells. → Complete absence of EGFP fluorescence was confirmed in ZFN-treated cells. -- Abstract: Zinc-finger nucleases (ZFNs) are expected as a powerful tool for generating gene knockouts in laboratory and domestic animals. Currently, it is unclear whether this technology can be utilized for knocking-out genes in pigs. Here, we investigated whether knockout (KO) events in which ZFNs recognize and cleave a target sequence occur in porcine primary cultured somatic cells that harbor the exogenous enhanced green fluorescent protein (EGFP) gene. ZFN-encoding mRNA designed to target the EGFP gene was introduced by electroporation into the cell. Using the Surveyor nuclease assay and flow cytometric analysis, we confirmed ZFN-induced cleavage of the target sequence and the disappearance of EGFP fluorescence expression in ZFN-treated cells. In addition, sequence analysis revealed that ZFN-induced mutations such as base substitution, deletion, or insertion were generated in the ZFN cleavage site of EGFP-expression negative cells that were cloned from ZFN-treated cells, thereby showing it was possible to disrupt (i.e., knock out) the function of the EGFP gene in porcine somatic cells. To our knowledge, this study provides the first evidence that the ZFN-KO system can be applied to pigs. These findings may open a new avenue to the creation of gene KO pigs using ZFN-treated cells and somatic cell nuclear transfer.

Human somatic cell nuclear transfer and cloning.

Science.gov (United States)

2012-10-01

This document presents arguments that conclude that it is unethical to use somatic cell nuclear transfer (SCNT) for infertility treatment due to concerns about safety; the unknown impact of SCNT on children, families, and society; and the availability of other ethically acceptable means of assisted reproduction. This document replaces the ASRM Ethics Committee report titled, "Human somatic cell nuclear transfer (cloning)," last published in Fertil Steril 2000;74:873-6. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Nuclear donor cell lines considerably influence cloning efficiency and the incidence of large offspring syndrome in bovine somatic cell nuclear transfer.

Science.gov (United States)

Liu, J; Wang, Y; Su, J; Luo, Y; Quan, F; Zhang, Y

2013-08-01

Total five ear skin fibroblast lines (named F1, F2, F3, F4 and F5) from different newborn Holstein cows have been used as nuclear donor cells for producing cloned cows by somatic cell nuclear transfer (SCNT). The effects of these cell lines on both in vitro and in vivo developmental rates of cloned embryos, post-natal survivability and incidence of large offspring syndrome (LOS) were examined in this study. We found that the different cell lines possessed the same capacity to support pre-implantation development of cloned embryos, the cleavage and blastocyst formation rates ranged from 80.2 ± 0.9 to 84.5 ± 2.5% and 28.5 ± 0.9 to 33.3 ± 1.4%, respectively. However, their capacities to support the in vivo development of SCNT embryos showed significant differences (p cloning efficiency was significantly higher in group F5 than those in group F1, F2, F3 and F4 (9.3% vs 4.1%, 1.2%, 2.0% and 5.0%, respectively, p cloned offspring from cell line F1, F2, F3 and F4 showed LOS and gestation length delay, while all cloned offspring from F5 showed normal birthweight and gestation length. We concluded that the nuclear donor cell lines have significant impact on the in vivo development of cloned embryos and the incidence of LOS in cloned calves. © 2013 Blackwell Verlag GmbH.

Staufen- and FMRP-Containing Neuronal RNPs Are Structurally and Functionally Related to Somatic P Bodies

OpenAIRE

Barbee, Scott A.; Estes, Patricia S.; Cziko, Anne-Marie; Hillebrand, Jens; Luedeman, Rene A.; Coller, Jeff M.; Johnson, Nick; Howlett, Iris C.; Geng, Cuiyun; Ueda, Ryu; Brand, Andrea H.; Newbury, Sarah F.; Wilhelm, James E.; Levine, Richard B.; Nakamura, Akira

2006-01-01

Local control of mRNA translation modulates neuronal development, synaptic plasticity, and memory formation. A poorly understood aspect of this control is the role and composition of ribonucleoprotein (RNP) particles that mediate transport and translation of neuronal RNAs. Here, we show that staufen- and FMRPcontaining RNPs in Drosophila neurons contain proteins also present in somatic “P bodies,” including the RNA-degradative enzymes Dcp1p and Xrn1p/Pacman and crucial components of miRNA (ar...

Abnormal Liver Function Tests in an Anorexia Nervosa Patient and an Atypical Manifestation of Refeeding Syndrome

Directory of Open Access Journals (Sweden)

Vamshidhar R. Vootla

2015-07-01

Full Text Available Refeeding syndrome is defined as electrolyte and fluid abnormalities that occur in significantly malnourished patients when they are refed orally, enterally, or parenterally. The principal manifestations include hypophosphatemia, hypokalemia, vitamin deficiencies, volume overload and edema. This can affect multiple organ systems, such as the cardiovascular, pulmonary, or neurological systems, secondary to the above-mentioned abnormalities. Rarely, patients may develop gastrointestinal symptoms and show abnormal liver function test results. We report the case of a 52-year-old woman with anorexia nervosa who developed refeeding syndrome and simultaneous elevations of liver function test results, which normalized upon the resolution of the refeeding syndrome.

Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types

Directory of Open Access Journals (Sweden)

Michael Seiler

2018-04-01

Full Text Available Summary: Hotspot mutations in splicing factor genes have been recently reported at high frequency in hematological malignancies, suggesting the importance of RNA splicing in cancer. We analyzed whole-exome sequencing data across 33 tumor types in The Cancer Genome Atlas (TCGA, and we identified 119 splicing factor genes with significant non-silent mutation patterns, including mutation over-representation, recurrent loss of function (tumor suppressor-like, or hotspot mutation profile (oncogene-like. Furthermore, RNA sequencing analysis revealed altered splicing events associated with selected splicing factor mutations. In addition, we were able to identify common gene pathway profiles associated with the presence of these mutations. Our analysis suggests that somatic alteration of genes involved in the RNA-splicing process is common in cancer and may represent an underappreciated hallmark of tumorigenesis. : Seiler et al. report that 119 splicing factor genes carry putative driver mutations over 33 tumor types in TCGA. The most common mutations appear to be mutually exclusive and are associated with lineage-independent altered splicing. Samples with these mutations show deregulation of cell-autonomous pathways and immune infiltration. Keywords: splicing, SF3B1, U2AF1, SRSF2, RBM10, FUBP1, cancer, mutation

The effect of acotiamide on epigastric pain syndrome and postprandial distress syndrome in patients with functional dyspepsia.

Science.gov (United States)

Shinozaki, Satoshi; Osawa, Hiroyuki; Sakamoto, Hirotsugu; Hayashi, Yoshikazu; Kawarai Lefor, Alan; Yamamoto, Hironori

2016-01-01

The effect of acotiamide on gastrointestinal symptoms is undefined. The aim of this study is to evaluate the effect of acotiamide on abdominal symptoms in patients with functional dyspepsia. We retrospectively reviewed 51 patients treated with acotiamide. We evaluated patient quality of life using the Izumo scale that detects changes in quality of life caused by abdominal symptoms. Acotiamide ameliorated the symptoms of functional dyspepsia at one and three months (improved: 61% vs 80%, p=0.029 and resolved: 17% vs 33%, p=0.069). We then evaluated the effect of acotiamide on epigastric pain syndrome (EPS) (n=33) and postprandial distress syndrome (PDS) (n=41). Acotiamide treatment showed an early effect on rates of improvement (63%) and resolution (42%) of EPS symptoms at one month, maintained up to three months (69% and 39%, respectively). Both rates of improvement and resolution of PDS symptoms showed a significant increase from one month to three months (56% vs 78%, p=0.021 and 17% vs 46%, p=0.004, respectively). The severity of functional dyspepsia symptoms before treatment was significantly associated with failed resolution of functional dyspepsia symptoms (p=0.013). Acotiamide improves and resolves EPS symptoms as well as PDS symptoms. PDS symptoms take longer to resolve than EPS symptoms. J. Med. Invest. 63: 230-235, August, 2016.

File list: Unc.Gon.50.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

Lifescience Database Archive (English)

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Lifescience Database Archive (English)

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