Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nürnberg, Gudrun; Nürnberg, Peter; Seemann, Petra; Kunkel, Désirée; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid appearance, lax and wrinkled skin, osteopenia and mental retardation. Homozygosity mapping in several kindreds with ARCL identified a candidate region on chromosome 17q25. By high-throughput sequencing of the entire candidate region, we detected disease-causing mutations in the gene PYCR1. We found that the gene product, an enzyme involved in proline metabolism, localizes to mitochondria. Altered mitochondrial morphology, membrane potential and increased apoptosis rate upon oxidative stress were evident in fibroblasts from affected individuals. Knockdown of the orthologous genes in Xenopus and zebrafish led to epidermal hypoplasia and blistering that was accompanied by a massive increase of apoptosis. Our findings link mutations in PYCR1 to altered mitochondrial function and progeroid changes in connective tissues.
Fischer-Zirnsak, Björn; Escande-Beillard, Nathalie; Ganesh, Jaya; Tan, Yu Xuan; Al Bughaili, Mohammed; Lin, Angela E.; Sahai, Inderneel; Bahena, Paulina; Reichert, Sara L.; Loh, Abigail; Wright, Graham D.; Liu, Jaron; Rahikkala, Elisa; Pivnick, Eniko K.; Choudhri, Asim F.; Krüger, Ulrike; Zemojtel, Tomasz; van Ravenswaaij-Arts, Conny; Mostafavi, Roya; Stolte-Dijkstra, Irene; Symoens, Sofie; Pajunen, Leila; Al-Gazali, Lihadh; Meierhofer, David; Robinson, Peter N.; Mundlos, Stefan; Villarroel, Camilo E.; Byers, Peter; Masri, Amira; Robertson, Stephen P.; Schwarze, Ulrike; Callewaert, Bert; Reversade, Bruno; Kornak, Uwe
Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively,
Fischer-Zirnsak, Björn; Escande-Beillard, Nathalie; Ganesh, Jaya; Tan, Yu Xuan; Al Bughaili, Mohammed; Lin, Angela E; Sahai, Inderneel; Bahena, Paulina; Reichert, Sara L; Loh, Abigail; Wright, Graham D; Liu, Jaron; Rahikkala, Elisa; Pivnick, Eniko K; Choudhri, Asim F; Krüger, Ulrike; Zemojtel, Tomasz; van Ravenswaaij-Arts, Conny; Mostafavi, Roya; Stolte-Dijkstra, Irene; Symoens, Sofie; Pajunen, Leila; Al-Gazali, Lihadh; Meierhofer, David; Robinson, Peter N; Mundlos, Stefan; Villarroel, Camilo E; Byers, Peter; Masri, Amira; Robertson, Stephen P; Schwarze, Ulrike; Callewaert, Bert; Reversade, Bruno; Kornak, Uwe
Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome. We found three heterozygous mutations in ALDH18A1 leading to amino acid substitutions of the same highly conserved residue, Arg138 in P5CS. A de novo origin was confirmed in all six probands for whom parental DNA was available. Using fibroblasts from affected individuals and heterologous overexpression, we found that the P5CS-p.Arg138Trp protein was stable and able to interact with wild-type P5CS but showed an altered sub-mitochondrial distribution. A reduced size upon native gel electrophoresis indicated an alteration of the structure or composition of P5CS mutant complex. Furthermore, we found that the mutant cells had a reduced P5CS enzymatic activity leading to a delayed proline accumulation. In summary, recurrent de novo mutations, affecting the highly conserved residue Arg138 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features. Our data provide insights into the etiology of cutis laxa diseases and will have immediate impact on diagnostics and genetic counseling. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Elouej, Sahar; Beleza-Meireles, Ana; Caswell, Richard; Colclough, Kevin; Ellard, Sian; Desvignes, Jean Pierre; Béroud, Christophe; Lévy, Nicolas; Mohammed, Shehla; De Sandre-Giovannoli, Annachiara
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p.Ser605del) and two other patients carried a novel heterozygous mutation in exon 13 (p.Arg507Cys). Additionally and interestingly, germline mutations of the same gene have been involved in familial polyposis and colorectal cancer (CRC) predisposition. We describe a male and a female patient with MDPL respectively affected with mild and severe phenotypes. Both of them showed mandibular hypoplasia, a beaked nose with bird-like facies, prominent eyes, a small mouth, growth retardation, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford Progeria was made. The exploration was performed by direct sequencing of POLD1 gene exon 15 in the male patient with a classical MDPL phenotype and by whole exome sequencing in the female patient and her unaffected parents. Exome sequencing identified in the latter patient a de novo heterozygous undescribed mutation in the POLD1 gene (NM_002691.3: c.3209T>A), predicted to cause the missense change p.Ile1070Asn in the ZnF2 (Zinc Finger 2) domain of the protein. This mutation was not reported in the 1000 Genome Project, dbSNP and Exome sequencing databases. Furthermore, the Isoleucine1070 residue of POLD1 is highly conserved among various species, suggesting that this substitution may cause a major impairment of POLD1 activity. For the second patient, affected with a typical MDPL phenotype, direct sequencing
Ehmke, Nadja; Graul-Neumann, Luitgard; Smorag, Lukasz; Koenig, Rainer; Segebrecht, Lara; Magoulas, Pilar; Scaglia, Fernando; Kilic, Esra; Hennig, Anna F; Adolphs, Nicolai; Saha, Namrata; Fauler, Beatrix; Kalscheuer, Vera M; Hennig, Friederike; Altmüller, Janine; Netzer, Christian; Thiele, Holger; Nürnberg, Peter; Yigit, Gökhan; Jäger, Marten; Hecht, Jochen; Krüger, Ulrike; Mielke, Thorsten; Krawitz, Peter M; Horn, Denise; Schuelke, Markus; Mundlos, Stefan; Bacino, Carlos A; Bonnen, Penelope E; Wollnik, Bernd; Fischer-Zirnsak, Björn; Kornak, Uwe
Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome. SLC25A24 encodes a mitochondrial inner membrane ATP-Mg/P i carrier. In fibroblasts from affected individuals, the mutated SLC25A24 showed normal stability. In contrast to control cells, the probands' cells showed mitochondrial swelling, which was exacerbated upon treatment with hydrogen peroxide (H 2 O 2 ). The same effect was observed after overexpression of the mutant cDNA. Under normal culture conditions, the mitochondrial membrane potential of the probands' fibroblasts was intact, whereas ATP content in the mitochondrial matrix was lower than that in control cells. However, upon H 2 O 2 exposure, the membrane potential was significantly elevated in cells harboring the mutated SLC25A24. No reduction of mitochondrial DNA copy number was observed. These findings demonstrate that mitochondrial dysfunction with increased sensitivity to oxidative stress is due to the SLC25A24 mutations. Our results suggest that the SLC25A24 mutations induce a gain of pathological function and link mitochondrial ATP-Mg/P i transport to the development of skeletal and connective tissue. Copyright © 2017 American Society of Human Genetics. All rights reserved.
Okada, Asami; Kohmoto, Tomohiro; Naruto, Takuya; Yokota, Ichiro; Kotani, Yumiko; Shimada, Aki; Miyamoto, Yoko; Takahashi, Rizu; Goji, Aya; Masuda, Kiyoshi; Kagami, Shoji; Imoto, Issei
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by heterozygous POLD1 mutations. To date, 13 patients affected by POLD1 mutation-caused MDPL have been described. We report a clinically undiagnosed 11-year-old male who noted joint contractures at 6 years of age. Targeted exome sequencing identified a known POLD1 mutation [NM_002691.3:c.1812_1814del, p.(Ser605del)] that diagnosed him as the first Japanese/East Asian MDPL case.
Reinier, Frederic; Zoledziewska, Magdalena; Hanna, David; Smith, Josh D; Valentini, Maria; Zara, Ilenia; Berutti, Riccardo; Sanna, Serena; Oppo, Manuela; Cusano, Roberto; Satta, Rosanna; Montesu, Maria Antonietta; Jones, Chris; Cerimele, Decio; Nickerson, Deborah A; Angius, Andrea; Cucca, Francesco; Cottoni, Francesca; Crisponi, Laura
Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually associated with metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. Many efforts have been made in the last years in identifying the genetic etiologies of several lipodystrophy forms, although some remain to be elucidated. We report here the clinical description of a woman with a rare severe lipodystrophic and progeroid syndrome associated with hypertriglyceridemia and diabetes whose genetic bases have been clarified through whole-exome sequencing (WES) analysis. This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome) patient with the same de novo p.S605del mutation in POLD1. We provided further genetic evidence that this is a disease-causing mutation along with a plausible molecular mechanism responsible for this recurring event. Moreover we overviewed the current classification of the inherited forms of lipodystrophy, along with their underlying molecular basis. Progress in the identification of lipodystrophy genes will help in better understanding the role of the pathways involved in the complex physiology of fat. This will lead to new targets towards develop innovative therapeutic strategies for treating the disorder and its metabolic complications, as well as more common forms of adipose tissue redistribution as observed in the metabolic syndrome and type 2 diabetes. Copyright © 2015 Elsevier Inc. All rights reserved.
Full Text Available As part of the Nucleotide Excision Repair (NER process, the endonuclease XPG is involved in repair of helix-distorting DNA lesions, but the protein has also been implicated in several other DNA repair systems, complicating genotype-phenotype relationship in XPG patients. Defects in XPG can cause either the cancer-prone condition xeroderma pigmentosum (XP alone, or XP combined with the severe neurodevelopmental disorder Cockayne Syndrome (CS, or the infantile lethal cerebro-oculo-facio-skeletal (COFS syndrome, characterized by dramatic growth failure, progressive neurodevelopmental abnormalities and greatly reduced life expectancy. Here, we present a novel (conditional Xpg-/- mouse model which -in a C57BL6/FVB F1 hybrid genetic background- displays many progeroid features, including cessation of growth, loss of subcutaneous fat, kyphosis, osteoporosis, retinal photoreceptor loss, liver aging, extensive neurodegeneration, and a short lifespan of 4-5 months. We show that deletion of XPG specifically in the liver reproduces the progeroid features in the liver, yet abolishes the effect on growth or lifespan. In addition, specific XPG deletion in neurons and glia of the forebrain creates a progressive neurodegenerative phenotype that shows many characteristics of human XPG deficiency. Our findings therefore exclude that both the liver as well as the neurological phenotype are a secondary consequence of derailment in other cell types, organs or tissues (e.g. vascular abnormalities and support a cell-autonomous origin caused by the DNA repair defect itself. In addition they allow the dissection of the complex aging process in tissue- and cell-type-specific components. Moreover, our data highlight the critical importance of genetic background in mouse aging studies, establish the Xpg-/- mouse as a valid model for the severe form of human XPG patients and segmental accelerated aging, and strengthen the link between DNA damage and aging.
Case Report - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin ... pads in the suprabuttock areas, triangular face, pseudohydrocephalous, sparse scalp hair and eyebrows, prominent scalp veins, greatly widened anterior fontanels, ...
Martin, G M
The maximum lifespan potential is a constitutional feature of speciation and must be subject to polygenic controls acting both in the domain of development and in the domain of the maintenance of macromolecular integrity. The enormous genetic heterogeneity that characterizes our own species, the complexities of numerous nature-nurture interactions, and the quantitative and qualitative variations of the senescent phenotype that are observed suggest that precise patterns of aging in each of us may be unique. Patterns of aging may also differ sharply among species (for example, semelparous vs. multiparous mammals). Some potential common denominators, however, allow one to identify progeroid syndromes in man that could lead to the elucidation of important pathways of gene action. (The suffix "-oid" means "like"; it does not mean identity.) Unimodal progeroid syndromes (eg., familial dementia of the Alzheimer type, an autosomal dominant) can help us understand the pathogenesis of a particular aspect of the senescent phenotype of man. Segmental progeroid syndromes (eg. the Werner syndrome, an autosomal recessive) may be relevant to multiple aspects of the senescent phenotype. Some results of research on the Werner syndrome may be interpreted as support for "peripheral" as opposed to "central" theories of aging; they are consistent with the view that gene action in the domain of development (adolescence, in this instance) can set the stage for patterns of aging in the adult; they point to the importance of mesenchymal cell populations in the pathogenesis of age-related disorders; finally, they underscore the role of chromosomal instability, especially in the pathogenesis of neoplasia.
Bhola, Priya T; Hartley, Taila; Bareke, Eric; Boycott, Kym M; Nikkel, Sarah M; Dyment, David A
De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138. We report an 8-year-old male with a clinical diagnosis of autosomal dominant cutis laxa (ADCL) with progeroid features and a novel de novo missense mutation in ALDH18A1 (NM_002860.3: c.377G>A (p.Arg126His)). This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. Knowledge of the complete spectrum of dominant-acting mutations that cause this rare syndrome will have implications for molecular diagnosis and genetic counselling of these families.
Hilton, Benjamin A; Liu, Ji; Cartwright, Brian M; Liu, Yiyong; Breitman, Maya; Wang, Youjie; Jones, Rowdy; Tang, Hui; Rusinol, Antonio; Musich, Phillip R; Zou, Yue
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is caused by a point mutation in the LMNA gene, resulting in production of a truncated farnesylated-prelamin A protein (progerin). We previously reported that XPA mislocalized to the progerin-induced DNA double-strand break (DSB) sites, blocking DSB repair, which led to DSB accumulation, DNA damage responses, and early replication arrest in HGPS. In this study, the XPA mislocalization to DSBs occurred at stalled or collapsed replication forks, concurrent with a significant loss of PCNA at the forks, whereas PCNA efficiently bound to progerin. This PCNA sequestration likely exposed ds-ssDNA junctions at replication forks for XPA binding. Depletion of XPA or progerin each significantly restored PCNA at replication forks. Our results suggest that although PCNA is much more competitive than XPA in binding replication forks, PCNA sequestration by progerin may shift the equilibrium to favor XPA binding. Furthermore, we demonstrated that progerin-induced apoptosis could be rescued by XPA, suggesting that XPA-replication fork binding may prevent apoptosis in HGPS cells. Our results propose a mechanism for progerin-induced genome instability and accelerated replicative senescence in HGPS.-Hilton, B. A., Liu, J., Cartwright, B. M., Liu, Y., Breitman, M., Wang, Y., Jones, R., Tang, H., Rusinol, A., Musich, P. R., Zou, Y. Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes. © FASEB.
Full Text Available Ageing is a process that inevitably affects most living organisms and involves the accumulation of macromolecular damage, genomic instability and loss of heterochromatin. Together, these alterations lead to a decline in stem cell function and to a reduced capability to regenerate tissue. In recent years, several genetic pathways and biochemical mechanisms that contribute to physiological ageing have been described, but further research is needed to better characterize this complex biological process. Because premature ageing (progeroid syndromes, including progeria, mimic many of the characteristics of human ageing, research into these conditions has proven to be very useful not only to identify the underlying causal mechanisms and identify treatments for these pathologies, but also for the study of physiological ageing. In this Review, we summarize the main cellular and animal models used in progeria research, with an emphasis on patient-derived induced pluripotent stem cell models, and define a series of molecular and cellular hallmarks that characterize progeroid syndromes and parallel physiological ageing. Finally, we describe the therapeutic strategies being investigated for the treatment of progeroid syndromes, and their main limitations.
The Internet Addiction Disorder diagnostic manual approved by psychologists on November 8 divides Internet addiction into five categories,which are addiction to online games,pornography,social networking,Internet information and Internetshopping.
Chen, Mao; Yao, Bing; Yang, Qiangbing; Deng, Jichao; Song, Yuning; Sui, Tingting; Zhou, Lina; Yao, HaoBing; Xu, Yuanyuan; Ouyang, Hongsheng; Pang, Daxin; Li, Zhanjun; Lai, Liangxue
Various clinical differences have been observed between patients with the FBN1 gene mutation and those with the classical Marfan phenotype. Although FBN1 knockout (KO) or dominant-negative mutant mice are widely used as an animal model for Marfan syndrome (MFS), these mice cannot recapitulate the genotype/phenotype relationship of Marfanoid-progeroid-lipodystrophy (MPL) syndrome, which is caused by a mutation in the C-terminus of fibrillin-1, the penultimate exon of the FBN1 gene. Here, we describe the generation of a rabbit MPL model with C-terminal truncation of fibrillin-1 using a CRISPR/Cas9 system. FBN1 heterozygous ( FBN1 Het) rabbits faithfully recapitulated the phenotypes of MFS, including muscle wasting and impaired connective tissue, ocular syndrome and aortic dilation. Moreover, skin symptoms, lipodystrophy, growth retardation and dysglycemia were also seen in these FBN1 Het rabbits, and have not been reported in other animal models. In conclusion, this novel rabbit model mimics the histopathological changes and functional defects of MPL syndrome, and could become a valuable model for studies of pathogenesis and drug screening for MPL syndrome. © 2018. Published by The Company of Biologists Ltd.
McFarlane, Michael; Eaden, Jayne; Burch, Nicola; Disney, Ben
Acute upper gastrointestinal (GI) bleeding is a common condition in the UK with 50-70,000 admissions per year. In 20% of cases no cause can be found on endoscopy. Here, we present the case of a young female patient who was admitted on three occasions with large volume haematemesis and bleeding from other sites. She was extensively investigated and underwent multiple endoscopic procedures. She was eventually diagnosed with factitious disorder after concerns were raised about the inconsistent nature of her presentations. She was found to be venesecting herself from her intravenous cannula, and ingesting the blood to simulate upper GI bleeding. This is a rare cause of 'haematemesis' but perhaps not as rare as is thought.
B. Schumacher (Björn); V. Bartels (Valerie); P. Frommolt (Peter); B. Habermann (Bianca); F. Braun (Fabian); J.L. Schultze (Joachim); M. Roodbergen (Marianne); J.H.J. Hoeijmakers (Jan); P. Nürnberg (Peter); M.E.T. Dollé (Martijn); T. Benzing (Thomas); R.-U. Müller (Roman-Ulrich); C.E. Kurschat (Christine)
textabstractBackground: Aging-related kidney diseases are a major health concern. Currently, models to study renal aging are lacking. Due to a reduced life-span progeroid models hold the promise to facilitate aging studies and allow examination of tissue-specific changes. Defects in genome
Kondrashenko, V.T.; Sorokina, T.T.; Donskoj, D.I.; Kopytov, A.V.; Igumnov, S.A.; Avin, A.I.; Golovach, A.A.; Bosina, L.G.
The results of the investigations being fulfilled in accordance with three programs for different groups of people are received. People living in the radionuclide contaminated areas from the both Gomel and Mogilev Regions (n=304), liquidators (n=114), children, having been born from the mothers living on the radionuclide contaminated territories (n=154), when they were pregnant, were involved in the study. The number of persons of male and female sex were accordingly 63% and 47%. 50 children and 50 adults from the both Minsk and Vitebsk Regions (clean zones) were in the control group. The study has shown that neuro psychic disorders occurred in the majority of the examined persons and it was caused mainly by an organic impairment of brain
Schermer, Bernhard; Bartels, Valerie; Frommolt, Peter; Habermann, Bianca; Braun, Fabian; Schultze, Joachim L; Roodbergen, Marianne; Hoeijmakers, Jan Hj; Schumacher, Björn; Nürnberg, Peter; Dollé, Martijn Et; Benzing, Thomas; Müller, Roman-Ulrich; Kurschat, Christine E
Aging-related kidney diseases are a major health concern. Currently, models to study renal aging are lacking. Due to a reduced life-span progeroid models hold the promise to facilitate aging studies and allow examination of tissue-specific changes. Defects in genome maintenance in the Ercc1(-/Δ) progeroid mouse model result in premature aging and typical age-related pathologies. Here, we compared the glomerular transcriptome of young and aged Ercc1-deficient mice to young and aged WT mice in order to establish a novel model for research of aging-related kidney disease. In a principal component analysis, age and genotype emerged as first and second principal components. Hierarchical clustering of all 521 genes differentially regulated between young and old WT and young and old Ercc1(-/Δ) mice showed cluster formation between young WT and Ercc1(-/Δ) as well as old WT and Ercc1(-/Δ) samples. An unexpectedly high number of 77 genes were differentially regulated in both WT and Ercc1(-/Δ) mice (p aging glomerulus. At the level of the transcriptome, the pattern of gene activities is similar in the progeroid Ercc1(-/Δ) mouse model constituting a valuable tool for future studies of aging-associated glomerular pathologies.
Background Aging-related kidney diseases are a major health concern. Currently, models to study renal aging are lacking. Due to a reduced life-span progeroid models hold the promise to facilitate aging studies and allow examination of tissue-specific changes. Defects in genome maintenance in the Ercc1-/Δ progeroid mouse model result in premature aging and typical age-related pathologies. Here, we compared the glomerular transcriptome of young and aged Ercc1-deficient mice to young and aged WT mice in order to establish a novel model for research of aging-related kidney disease. Results In a principal component analysis, age and genotype emerged as first and second principal components. Hierarchical clustering of all 521 genes differentially regulated between young and old WT and young and old Ercc1-/Δ mice showed cluster formation between young WT and Ercc1-/Δ as well as old WT and Ercc1-/Δ samples. An unexpectedly high number of 77 genes were differentially regulated in both WT and Ercc1-/Δ mice (p aging glomerulus. At the level of the transcriptome, the pattern of gene activities is similar in the progeroid Ercc1-/Δ mouse model constituting a valuable tool for future studies of aging-associated glomerular pathologies. PMID:23947592
Full Text Available Background: Since making communication with others is the most important function of speech, undoubtedly, any type of disorder in speech will affect the human communicability with others. The objective of the study was to investigate reasons behind the [high] prevalence rate of stammer, producing disorders and aglossia.Materials and Methods: This descriptive-analytical study was conducted on 118 male and female students, who were studying in a primary school in Zahedan; they had referred to the Speech Therapy Centers of Zahedan University of Medical Sciences in a period of seven months. The speech therapist examinations, diagnosis tools common in speech therapy, Spielberg Children Trait and also patients' cases were used to find the reasons behind the [high] prevalence rate of speech disorders. Results: Psychological causes had the highest rate of correlation with the speech disorders among the other factors affecting the speech disorders. After psychological causes, family history and age of the subjects are the other factors which may bring about the speech disorders (P<0.05. Bilingualism and birth order has a negative relationship with the speech disorders. Likewise, another result of this study shows that only psychological causes, social causes, hereditary causes and age of subjects can predict the speech disorders (P<0.05.Conclusion: The present study shows that the speech disorders have a strong and close relationship with the psychological causes at the first step and also history of family and age of individuals at the next steps.
Autism and autistic spectrum disorders are still relatively poorly understood. This article outlines the results of new research into the prevalence of autism and into the causes of the condition and highlights implications for nurses from the findings.
Buchanan, Alec; Zonana, Howard
An offender's punishment can be reduced when a court decides that his mental disorder reduces his responsibility for what he did. Courts have sought to establish whether a mentally disordered offender's responsibility is reduced by asking whether his disorder caused the crime. Acceptance of this "causation by mental disorder" criterion has fluctuated, however. This may be because causal explanations are not the types of explanations we are accustomed to offering for the kinds of acts that bring defendants, and psychiatric witnesses, to court. More often, we offer what philosophers have called "possibility" explanations for these acts. The application of psychiatry to possibility explanations has not been widely explored. It offers the potential for the improved use of psychiatric evidence in criminal proceedings.
Saigusa, Hideto; Yamaguchi, Satoshi; Nakamura, Tsuyoshi; Komachi, Taro; Kadosono, Osamu; Ito, Hiroyuki; Saigusa, Makoto; Niimi, Seiji
Amyotrophic lateral sclerosis (ALS) is a progressive debilitating neurological disease. ALS disturbs the quality of life by affecting speech, swallowing and free mobility of the arms without affecting intellectual function. It is therefore of significance to improve intelligibility and quality of speech sounds, especially for ALS patients with slowly progressive courses. Currently, however, there is no effective or established approach to improve speech disorder caused by ALS. We investigated a surgical procedure to improve speech disorder for some patients with neuromuscular diseases with velopharyngeal closure incompetence. In this study, we performed the surgical procedure for two patients suffering from severe speech disorder caused by slowly progressing ALS. The patients suffered from speech disorder with hypernasality and imprecise and weak articulation during a 6-year course (patient 1) and a 3-year course (patient 2) of slowly progressing ALS. We narrowed bilateral lateral palatopharyngeal wall at velopharyngeal port, and performed this surgery under general anesthesia without muscle relaxant for the two patients. Postoperatively, intelligibility and quality of their speech sounds were greatly improved within one month without any speech therapy. The patients were also able to generate longer speech phrases after the surgery. Importantly, there was no serious complication during or after the surgery. In summary, we performed bilateral narrowing of lateral palatopharyngeal wall as a speech surgery for two patients suffering from severe speech disorder associated with ALS. With this technique, improved intelligibility and quality of speech can be maintained for longer duration for the patients with slowly progressing ALS.
Full Text Available De novo creation of protein coding genes involves the formation of short ORFs from noncoding regions; some of these ORFs might then become fixed in the population. These orphan proteins need to, at the bare minimum, not cause serious harm to the organism, meaning that they should for instance not aggregate. Therefore, although the creation of short ORFs could be truly random, the fixation should be subjected to some selective pressure. The selective forces acting on orphan proteins have been elusive, and contradictory results have been reported. In Drosophila young proteins are more disordered than ancient ones, while the opposite trend is present in yeast. To the best of our knowledge no valid explanation for this difference has been proposed. To solve this riddle we studied structural properties and age of proteins in 187 eukaryotic organisms. We find that, with the exception of length, there are only small differences in the properties between proteins of different ages. However, when we take the GC content into account we noted that it could explain the opposite trends observed for orphans in yeast (low GC and Drosophila (high GC. GC content is correlated with codons coding for disorder promoting amino acids. This leads us to propose that intrinsic disorder is not a strong determining factor for fixation of orphan proteins. Instead these proteins largely resemble random proteins given a particular GC level. During evolution the properties of a protein change faster than the GC level causing the relationship between disorder and GC to gradually weaken.
Full Text Available Josef Finsterer,1 John Hayman21Krankenanstalt Rudolfstiftng, Vienna, Austria; 2Department of Pathology, University of Melbourne, Victoria, AustraliaBackground: Charles Darwin (CD, “father of modern biology,” suffered from multisystem illness from early adulthood. The most disabling manifestation was cyclic vomiting syndrome (CVS. This study aims at finding the possible cause of CVS in CD.Methods: A literature search using the PubMed database was carried out, and CD's complaints, as reported in his personal writings and those of his relatives, friends, colleagues, biographers, were compared with various manifestations of mitochondrial disorders (MIDs, known to cause CVS, described in the literature.Results: Organ tissues involved in CD's disease were brain, nerves, muscles, vestibular apparatus, heart, gut, and skin. Cerebral manifestations included episodic headache, visual disturbance, episodic memory loss, periodic paralysis, hysterical crying, panic attacks, and episodes of depression. Manifestations of polyneuropathy included numbness, paresthesias, increased sweating, temperature sensitivity, and arterial hypotension. Muscular manifestations included periods of exhaustion, easy fatigability, myalgia, and muscle twitching. Cardiac manifestations included episodes of palpitations and chest pain. Gastrointestinal manifestations were CVS, dental problems, abnormal seasickness, eructation, belching, and flatulence. Dermatological manifestations included painful lips, dermatitis, eczema, and facial edema. Treatments with beneficial effects to his complaints were rest, relaxation, heat, and hydrotherapy.Conclusion: CVS in CD was most likely due to a multisystem, nonsyndromic MID. This diagnosis is based upon the multisystem nature of his disease, the fact that CVS is most frequently the manifestation of a MID, the family history, the variable phenotypic expression between affected family members, the fact that symptoms were triggered by stress
Srivastava, Siddharth; Sahin, Mustafa
Epileptic encephalopathies represent a particularly severe form of epilepsy, associated with cognitive and behavioral deficits, including impaired social-communication and restricted, repetitive behaviors that are the hallmarks of autism spectrum disorder (ASD). With the advent of next-generation sequencing, the genetic landscape of epileptic encephalopathies is growing and demonstrates overlap with genes separately implicated in ASD. However, many questions remain about this connection, including whether epileptiform activity itself contributes to the development of ASD symptomatology. In this review, we compiled a database of genes associated with both epileptic encephalopathy and ASD, limiting our purview to Mendelian disorders not including inborn errors of metabolism, and we focused on the connection between ASD and epileptic encephalopathy rather than epilepsy broadly. Our review has four goals: to (1) discuss the overlapping presentations of ASD and monogenic epileptic encephalopathies; (2) examine the impact of the epilepsy itself on neurocognitive features, including ASD, in monogenic epileptic encephalopathies; (3) outline many of the genetic causes responsible for both ASD and epileptic encephalopathy; (4) provide an illustrative example of a final common pathway that may be implicated in both ASD and epileptic encephalopathy. We demonstrate that autistic features are a common association with monogenic epileptic encephalopathies. Certain epileptic encephalopathy syndromes, like infantile spasms, are especially linked to the development of ASD. The connection between seizures themselves and neurobehavioral deficits in these monogenic encephalopathies remains open to debate. Finally, advances in genetics have revealed many genes that overlap in ties to both ASD and epileptic encephalopathy and that play a role in diverse central nervous system processes. Increased attention to the autistic features of monogenic epileptic encephalopathies is warranted for
Errors of cholesterol biosynthesis represent a heterogeneous group of metabolic disorders. The aim of the authors of this article is to present a case of a patient with typical symptoms of a rare post-squalene disorder of cholesterol biosynthesis, its diagnostics and progress in neonatal period. The differential diagnosis of a ...
Nakajima, Masahiro; Mizumoto, Shuji; Miyake, Noriko; Kogawa, Ryo; Iida, Aritoshi; Ito, Hironori; Kitoh, Hiroshi; Hirayama, Aya; Mitsubuchi, Hiroshi; Miyazaki, Osamu; Kosaki, Rika; Horikawa, Reiko; Lai, Angeline; Mendoza-Londono, Roberto; Dupuis, Lucie; Chitayat, David; Howard, Andrew; Leal, Gabriela F; Cavalcanti, Denise; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Watanabe, Shigehiko; Lausch, Ekkehart; Unger, Sheila; Bonafé, Luisa; Ohashi, Hirofumi; Superti-Furga, Andrea; Matsumoto, Naomichi; Sugahara, Kazuyuki; Nishimura, Gen; Ikegawa, Shiro
Proteoglycans (PGs) are a major component of the extracellular matrix in many tissues and function as structural and regulatory molecules. PGs are composed of core proteins and glycosaminoglycan (GAG) side chains. The biosynthesis of GAGs starts with the linker region that consists of four sugar residues and is followed by repeating disaccharide units. By exome sequencing, we found that B3GALT6 encoding an enzyme involved in the biosynthesis of the GAG linker region is responsible for a severe skeletal dysplasia, spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1). B3GALT6 loss-of-function mutations were found in individuals with SEMD-JL1 from seven families. In a subsequent candidate gene study based on the phenotypic similarity, we found that B3GALT6 is also responsible for a connective tissue disease, Ehlers-Danlos syndrome (progeroid form). Recessive loss-of-function mutations in B3GALT6 result in a spectrum of disorders affecting a broad range of skeletal and connective tissues characterized by lax skin, muscle hypotonia, joint dislocation, and spinal deformity. The pleiotropic phenotypes of the disorders indicate that B3GALT6 plays a critical role in a wide range of biological processes in various tissues, including skin, bone, cartilage, tendon, and ligament. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Shah, Eric; Rezaie, Ali; Riddle, Mark; Pimentel, Mark
Psychological disorders have been associated with irritable bowel syndrome (IBS) for decades in the absence of other objective etiology. However, such associations are also evident in other chronic diseases with more clearly defined pathogenesis such as ulcerative colitis. In this study, we examined the prevalence and severity of psychological disorders among IBS and ulcerative colitis (UC) patients relative to healthy controls. A review was conducted of English-language literature to identify case-control studies reporting the prevalence of depression or anxiety in IBS and UC populations relative to healthy controls. Our primary endpoint was the pooled prevalence or average score of depression or anxiety in an IBS or UC population relative to healthy control. Seven case-control studies evaluating IBS and three evaluating UC were included. All IBS and UC studies reported excess prevalence and severity of depression as well as anxiety, relative to healthy controls. The prevalence of depression in excess of healthy controls was 39% in UC case-control trials and 33% in IBS studies, and excess anxiety was present in UC (42%) and IBS (19%) case-control trials as well. Anxiety and depression scores were higher (representing more severe symptoms) in both UC and IBS patients compared to healthy controls. Anxiety and depressive disorders are associated with both IBS and UC. The non-specific association between these psychological and gastrointestinal disorders could suggest that chronic gastrointestinal illness might affect psychosocial behavior.
Tou, Weng Ieong; Chen, Calvin Yu-Chian
Insomnia is a self-reported disease where patients lose their ability to initiate and maintain sleep, leading to daytime performance impairment. Several drug targets to ameliorate insomnia symptoms have been discovered; however, these drug targets lead to serious side effects. Thus, we characterize the structural properties of these sleep-related receptors and the clock complex and discuss a possible drug design that will reduce side effects. Computational prediction shows that disordered property is shared. Over 30% of the structure of CLOCK, PER1/2/3, BMAL-1, muscarinic acetylcholine receptor-M1, melatonin receptor and casein kinase I are structurally disordered (the remaining proteins represent insomnia drugs might be closely related to the protein architecture. Copyright © 2013 Elsevier Ltd. All rights reserved.
Sardinha, Aline; Freire, Rafael Christophe da Rocha; Zin, Walter Araújo; Nardi, Antonio Egidio
Multiple respiratory abnormalities can be found in anxiety disorders, especially in panic disorder (PD). Individuals with PD experience unexpected panic attacks, characterized by anxiety and fear, resulting in a number of autonomic and respiratory symptoms. Respiratory stimulation is a common event during panic attacks. The respiratory abnormality most often reported in PD patients is increased CO2 sensitivity, which has given rise to the hypothesis of fundamental abnormalities in the physiological mechanisms that control breathing in PD. There is evidence that PD patients with dominant respiratory symptoms are more sensitive to respiratory tests than are those who do not manifest such symptoms, and that the former group constitutes a distinct subtype. Patients with PD tend to hyperventilate and to panic in response to respiratory stimulants such as CO2, triggering the activation of a hypersensitive fear network. Although respiratory physiology seems to remain normal in these subjects, recent evidence supports the idea that they present subclinical abnormalities in respiration and in other functions related to body homeostasis. The fear network, composed of the hippocampus, the medial prefrontal cortex, the amygdala and its brain stem projections, might be oversensitive in PD patients. This theory might explain why medication and cognitive-behavioral therapy are both clearly effective. Our aim was to review the relationship between respiration and PD, addressing the respiratory subtype of PD and the hyperventilation syndrome, with a focus on respiratory challenge tests, as well as on the current mechanistic concepts and the pharmacological implications of this relationship.
The purpose of this study was to examine the predictive influence that internalization of society and media messages has on body dissatisfaction, as well as the prediction influence that body dissatisfaction has on disordered eating behaviors, such as preoccupation with weight, dieting, and eating restraint. A total of 324 participants completed the demographic questionnaire, the Multidimensional Body Self Relations Questionnaire (Cash, 2001 ), the Sociocultural Attitudes Towards Appearance Questionnaire (Heinberg, Thompson, & Stormer, 1995 ) for women, and the Sociocultural Attitudes Towards Appearance Questionnaire-Revised-Male-Version (Cusumano & Thompson, 1997 ) for men, and the locus of control (Rotter, 1966 ). The results of this study found that high internalization leads to body dissatisfaction, in turn, leading to disordered eating behaviors, such as preoccupation with weight, dieting, and eating restraint. This study proposes the implementation of media literacy and education programs that teach college women and men, girls and boys, to think more critically about the media.
Post - traumatic and Developmental Stress Disorder PRINCIPAL INVESTIGATOR: Keith A...28 Feb 2013 4. TITLE AND SUBTITLE The Root Cause of Post - traumatic and Developmental Stress Disorder 5a. CONTRACT NUMBER W81XWH-‐07-‐1-‐0244...goal of Project 1 is to describe the progression of post -deployment stress disorders ( PTSD , major depression, suicidality) in active duty troops
Patten, Shunmoogum A; Armstrong, Gary A B; Lissouba, Alexandra; Kabashi, Edor; Parker, J Alex; Drapeau, Pierre
Motor neuron disorders (MNDs) are a clinically heterogeneous group of neurological diseases characterized by progressive degeneration of motor neurons, and share some common pathological pathways. Despite remarkable advances in our understanding of these diseases, no curative treatment for MNDs exists. To better understand the pathogenesis of MNDs and to help develop new treatments, the establishment of animal models that can be studied efficiently and thoroughly is paramount. The zebrafish (Danio rerio) is increasingly becoming a valuable model for studying human diseases and in screening for potential therapeutics. In this Review, we highlight recent progress in using zebrafish to study the pathology of the most common MNDs: spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP). These studies indicate the power of zebrafish as a model to study the consequences of disease-related genes, because zebrafish homologues of human genes have conserved functions with respect to the aetiology of MNDs. Zebrafish also complement other animal models for the study of pathological mechanisms of MNDs and are particularly advantageous for the screening of compounds with therapeutic potential. We present an overview of their potential usefulness in MND drug discovery, which is just beginning and holds much promise for future therapeutic development. © 2014. Published by The Company of Biologists Ltd.
Shunmoogum A. Patten
Full Text Available Motor neuron disorders (MNDs are a clinically heterogeneous group of neurological diseases characterized by progressive degeneration of motor neurons, and share some common pathological pathways. Despite remarkable advances in our understanding of these diseases, no curative treatment for MNDs exists. To better understand the pathogenesis of MNDs and to help develop new treatments, the establishment of animal models that can be studied efficiently and thoroughly is paramount. The zebrafish (Danio rerio is increasingly becoming a valuable model for studying human diseases and in screening for potential therapeutics. In this Review, we highlight recent progress in using zebrafish to study the pathology of the most common MNDs: spinal muscular atrophy (SMA, amyotrophic lateral sclerosis (ALS and hereditary spastic paraplegia (HSP. These studies indicate the power of zebrafish as a model to study the consequences of disease-related genes, because zebrafish homologues of human genes have conserved functions with respect to the aetiology of MNDs. Zebrafish also complement other animal models for the study of pathological mechanisms of MNDs and are particularly advantageous for the screening of compounds with therapeutic potential. We present an overview of their potential usefulness in MND drug discovery, which is just beginning and holds much promise for future therapeutic development.
Braun, Thorsten; Fenaux, Pierre
Myelodysplastic Syndromes (MDS) and Chronic Myelomonocytic Leukemia (CMML) are frequently associated with clinical manifestations of autoimmune disorders (AD) and inflammatory response of the immune system. AD accompanying MDS and CMML include vasculitis, seronegative polyarthritis and neutrophilic dermatosis. Rare AD including relapsing polychondritis is strongly associated with MDS as in a high proportion of those patients MDS is diagnosed during disease course. Antinuclear antibodies (ANA) are frequently found among MDS patients without clinical manifestation of AD. In a subset of patients, MDS and resulting cytopenias appear to be the consequence of auto reactive immunologic activity and may respond to immunosuppressive treatment (IST). Increased release of inflammatory cytokines like tumor necrosis factor-(TNF)-α and interferon (IF)-γ triggers apoptosis of myeloid precursor cells leading to cytopenias. Impaired function of immune cells including cytotoxic, regulatory (Treg), helper (Th17) T cells and NK cells also appears to predict response to IST, outcome and occurrence of AD. Copyright © 2013 Elsevier Ltd. All rights reserved.
Full Text Available During the past few decades, scientific evidence has been accumulated concerning the possible adverse effects of the exposure to environmental chemicals on the well-being of wildlife and human populations. One large and growing group of such compounds of anthropogenic or natural origin is referred to as endocrine-disrupting chemicals (EDCs, due to their deleterious action on the endocrine system. This concern was first focused on the control of reproductive function particularly in males, but has later been expanded to include all possible endocrine functions. The present review describes the underlying physiology behind the cascade of developmental events that occur during sexual differentiation of males and the specific role of androgen in the masculinization process and proper organogenesis of the external male genitalia. The impact of the genetic background, environmental exposures and lifestyle factors in the etiology of hypospadias, cryptorchidism and testicular cancer are reviewed and the possible role of EDCs in the development of these reproductive disorders is discussed critically. Finally, the possible direct and programming effects of exposures in utero to widely use therapeutic compounds, environmental estrogens and other chemicals on the incidence of reproductive abnormalities and poor semen quality in humans are also highlighted.
Bunevicius, Robertas; Velickiene, Dzilda; Prange, Arthur J
To evaluate the prevalence of mood and anxiety disorders in women with treated hyperthyroidism caused by Graves' disease and to compare them with the prevalence of such findings in women without past or present thyroid disease. Thirty inpatient women with treated hyperthyroidism and ophthalmopathy caused by Graves' disease and 45 women hospitalized for treatment of gynecologic disorders such as abnormal vaginal bleeding, benign tumors or infertility were evaluated for the prevalence of mood and anxiety diagnoses using a standard Mini-International Neuropsychiatric Interview and for mood and anxiety ratings using the Profile of Mood States (POMS). At the time of assessment, it was discovered that 14 of 30 women with treated hyperthyroidism caused by Graves' disease were still hyperthyroid, while 16 women were euthyroid. Significantly greater prevalence of social anxiety disorder, generalized anxiety disorder, major depression and total mood and anxiety disorders, as well as higher symptom scores on the POMS, was found in hyperthyroid women with Graves' disease in comparison with the control group. A prevalence of total anxiety disorder, as well as history of mania or hypomania and lifetime bipolar disorder, but not lifetime unipolar depression, was more frequent in both the euthyroid and the hyperthyroid subgroups of study women in comparison with the control group. These results confirm a high prevalence of mood and anxiety disorders in women with treated hyperthyroidism and ophthalmopathy caused by Graves' disease. Hyperthyroidism plays a major role in psychiatric morbidity in Graves' disease.
Boekhout, T.; Gildemacher, P.R.; Theelen, B.; Müller, W.H.; Heijne, B.; Lutz, M.
Colonization of apples by ballistoconidium-forming fungi causes a new disorder, here named 'white haze'. White haze may occur in mild form in the field, but only becomes problematic after Ultra-Low Oxygen storage, and, therefore, may be considered as a postharvest disorder. All isolates, obtained
Moraux, A. [Hopital Roger Salengro, Service d' Imagerie Musculo-Squelettique, Centre de Consultation de l' Appareil Locomoteur, CHRU Lille (France); Imagerie Medicale Jacquemars Gielee, Lille (France); Lefebvre, G.; Pansini, V.; Aucourt, J.; Vandenbussche, L.; Cotten, A. [Hopital Roger Salengro, Service d' Imagerie Musculo-Squelettique, Centre de Consultation de l' Appareil Locomoteur, CHRU Lille (France); Demondion, X. [Hopital Roger Salengro, Service d' Imagerie Musculo-Squelettique, Centre de Consultation de l' Appareil Locomoteur, CHRU Lille (France); Pole Recherche Faculte de Medecine de Lille, Laboratoire d' Anatomie, Lille (France)
Pisotriquetral joint disorders are often under-recognized in routine clinical practice. They nevertheless represent a significant cause of ulnar side wrist pain. The aim of this article is to present the main disorders of this joint and discuss the different imaging modalities that can be useful for its assessment. (orig.)
Lobbezoo, F; Lavigne, G J
Controversy continues to exist over the putative role of bruxism in the etiology of temporomandibular disorders. A commonly held concept is that bruxism leads to signs and symptoms characteristic of one or more of the subdiagnoses of temporomandibular disorders, while another hypothesis suggests that bruxism is a temporomandibular disorder itself that sometimes coexists with other forms of temporomandibular disorders. Following a thorough review of the literature in this article, it is concluded that the relationship between bruxism and temporomandibular disorders is still unclear. Future research should examine longitudinal epidemiologic and clinical/experimental data to establish or refute a cause-and-effect relationship. In doing so, the existence of various sub-groups of temporomandibular disorders should be taken into account, and sleep-related bruxism should be discriminated from its daytime variant.
Full Text Available BACKGROUND: Xeroderma pigmentosum (XP is a rare autosomal recessive progeroid syndrome. It has recently been shown that the underlying DNA repair defect plays a central role in the aging process. In addition to skin symptoms, various premature neurological abnormalities have been reported. METHODOLOGY/PRINCIPAL FINDINGS: We present the clinical neurological phenotype in 14 XP patients (seven subtypes, in seven of these patients together with conventional and multiparametric advanced MRI data to assess the macrostructural and microstructural cerebral morphology in comparison to controls, including volumetric measurements, MR spectroscopy ((1H MRS, and diffusion tensor imaging (DTI. Clinical hallmarks were spinocerebellar ataxia, pyramidal tract signs, and mild cognitive deficits. DTI demonstrated significantly reduced WM directionality in all regions investigated, i.e. the thalamus, the corticospinal tracts and the dorsal corpus callosum. Single patients showed a marked relative hippocampal volume reduction, but the patients were not different from controls in the volumetric measurements of hippocampal and whole brain volumes at group level. However, (1H MRS demonstrated that the hippocampal formation was metabolically altered. CONCLUSIONS: The most prominent feature was the white matter affectation, as assessed by DTI, with volume and directionality reductions of the fiber projections involving both the craniocaudal fibers and the interhemispheric connections. These findings, although heterogeneous among the study sample, could be correlated with the clinico-neurological symptoms. The imaging findings support the position that myelin structures degrade prematurely in the brain of XP patients.
Kessing, Lars Vedel; Vradi, Eleni; McIntyre, Roger S; Andersen, Per Kragh
Accelerated aging has been proposed as a mechanism explaining the increased prevalence of comorbid general medical illnesses in bipolar disorder. To test the hypothesis that lost life years due to natural causes starts in early and mid-adulthood, supporting the hypothesis of accelerated aging. Using individual data from nationwide registers of patient with a diagnosis of bipolar disorder we calculated remaining life expectancies before age 90 years for values of age 15, 25, 35…75 years among all individuals alive in year 2000. Further, we estimated the reduction in life expectancy due to natural causes (physical illnesses) and unnatural causes (suicide and accidents) in relation to age. A total of 22,635 patients with bipolar disorder were included in the study in addition to data from the entire Danish general population of 5.4 million people. At age 15 years, remaining life expectancy before age 90 years was decreased 12.7 and 8.9 life years, respectively, for men and women with bipolar disorder. For 15-year old boys with bipolar disorder, natural causes accounted for 58% of all lost life years and for 15-year old girls, natural causes accounted for 67% increasing to 74% and 80% for 45-year old men and women, respectively. Data concern patients who get contact to hospital psychiatry only. Natural causes of death is the most prevalent reason for lost life years already from adolescence and increases substantially during early and mid-adulthood, in this way supporting the hypothesis of accelerated aging. Early intervention in bipolar disorder should not only focus on improving outcome of the bipolar disorder but also on decreasing the risk of comorbid general medical illnesses. Copyright © 2015 Elsevier B.V. All rights reserved.
Brauer, Christina; Jambroszyk, Melanie; Tipold, Andrea
A wide variety of intoxications and abnormal metabolic conditions can lead to reactive seizures in dogs. Patient records of dogs suffering from seizure disorders (n=877) were reviewed, and 96 cases were associated with an underlying metabolic or toxic aetiology. These included intoxications by various agents, hypoglycaemia, electrolyte disorders, hepatic encephalopathy, hypothyroidism, uraemic encephalopathy, hypoxia and hyperglycaemia. The incidence of the underlying diseases was determined. The most common causes of reactive seizures were intoxications (39%, 37 dogs) and hypoglycaemia (32%, 31 dogs). Hypocalcaemia was the most frequent electrolyte disorder causing reactive seizures (5%) and all five of these dogs had ionised calcium concentrations ≤0.69 mmol/L. Eleven per cent of dogs with seizures had metabolic or toxic disorders and this relatively high frequency emphasises the importance of a careful clinical work-up of cases presented with seizures in order to reach a correct diagnosis and select appropriate treatment options. Copyright © 2009 Elsevier Ltd. All rights reserved.
Full Text Available In the past two decades, stuttering and its relation to social anxiety disorder have been researched using different approaches in study fields such as neurolinguistics and neuropsychology. This paper presents a review of research publications about social anxiety disorder in children who stutter. It takes into account studies of stuttering, social anxiety disorders, the possible causes as well as atti-tudes and beliefs towards stuttering. Also, therapies or treatments that have been conducted on both English-speaking children who stutter in the Western context and Mandarin-speaking children stut-terers in Asia, Taiwan in particular; will be looked at
Kessing, Lars Vedel; Vradi, Eleni; McIntyre, Roger S
BACKGROUND: Accelerated aging has been proposed as a mechanism explaining the increased prevalence of comorbid general medical illnesses in bipolar disorder. AIMS: To test the hypothesis that lost life years due to natural causes starts in early and mid-adulthood, supporting the hypothesis...... of accelerated aging. METHODS: Using individual data from nationwide registers of patient with a diagnosis of bipolar disorder we calculated remaining life expectancies before age 90 years for values of age 15, 25, 35…75 years among all individuals alive in year 2000. Further, we estimated the reduction in life...... expectancy due to natural causes (physical illnesses) and unnatural causes (suicide and accidents) in relation to age. RESULTS: A total of 22,635 patients with bipolar disorder were included in the study in addition to data from the entire Danish general population of 5.4 million people. At age 15 years...
Mouridsen, Svend Erik; Bronnum-Hansen, Henrik; Rich, Bente; Isager, Torben
This study compared mortality among Danish citizens with autism spectrum disorders (ASDs) with that of the general population. A clinical cohort of 341 Danish individuals with variants of ASD, previously followed over the period 1960-93, now on average 43 years of age, were updated with respect to mortality and causes of death. Standardized…
Background: Structural language anomalies or impairments in autistic spectrum disorder (ASD) are theoretically and practically important, although underrecognised as such. This review aims to highlight the ubiquitousness of structural language anomalies and impairments in ASD, and to stimulate investigation of their immediate causes and…
The aim of my work is to provide a comprehensive overview of the possible causes of behavioral disorders that lead to the placement of individuals into correctional institutions. The work is primarily concerned with the influence of the family in the formation of the child's personality and with the other equally important factors from the external and internal environment of the individual.
Lake, Charles Raymond
Delusional paranoia has been associated with severe mental illness for over a century. Kraepelin introduced a disorder called "paranoid depression," but "paranoid" became linked to schizophrenia, not to mood disorders. Paranoid remains the most common subtype of schizophrenia, but some of these cases, as Kraepelin initially implied, may be unrecognized psychotic mood disorders, so the relationship of paranoid schizophrenia to psychotic bipolar disorder warrants reevaluation. To address whether paranoia associates more with schizophrenia or mood disorders, a selected literature is reviewed and 11 cases are summarized. Comparative clinical and recent molecular genetic data find phenotypic and genotypic commonalities between patients diagnosed with schizophrenia and psychotic bipolar disorder lending support to the idea that paranoid schizophrenia could be the same disorder as psychotic bipolar disorder. A selected clinical literature finds no symptom, course, or characteristic traditionally considered diagnostic of schizophrenia that cannot be accounted for by psychotic bipolar disorder patients. For example, it is hypothesized here that 2 common mood-based symptoms, grandiosity and guilt, may underlie functional paranoia. Mania explains paranoia when there are grandiose delusions that one's possessions are so valuable that others will kill for them. Similarly, depression explains paranoia when delusional guilt convinces patients that they deserve punishment. In both cases, fear becomes the overwhelming emotion but patient and physician focus on the paranoia rather than on underlying mood symptoms can cause misdiagnoses. This study uses a clinical, case-based, hypothesis generation approach that warrants follow-up with a larger representative sample of psychotic patients followed prospectively to determine the degree to which the clinical course observed herein is typical of all such patients. Differential diagnoses, nomenclature, and treatment implications are
Fartein Ask Torvik
Full Text Available Abstract Background Mental disorders strongly influence work capability in young adults, but it is not clear which disorders that are most strongly associated with sick leave, and which diagnoses that are stated on the sick leave certificates. Better knowledge of the impairments associated with different mental disorders is needed for optimal planning of interventions and prioritization of health services. In the current study, we investigate the prospective associations between eight mood, anxiety, and alcohol use disorders, and later sick leave granted for mental, somatic, or any disorder. Methods Lifetime mental disorders were assessed by structured diagnostic interviews in 2,178 young adults followed for eight years with registry data on sick leave. Relative risk ratios were estimated for the associations between each mental disorder and the different forms of sick leave. Results All included diagnoses were associated with later sick leave. In adjusted analyses, major depressive disorder and generalized anxiety disorder were the strongest predictors of sick leave granted for mental disorders, whereas social anxiety disorder and specific phobia were the strongest predictors of sick leave granted for somatic disorders. Specific phobia and major depressive disorder had the highest attributable fractions for all-cause sick leave. Conclusions Mood and anxiety disorders constituted independent risk factors for all cause sick leave, whereas alcohol use disorders seemed to be of less importance in young adulthood. Disorders characterised by distress were most strongly associated with sick leave granted for mental disorders, whereas disorders characterised by fear primarily predicted sick leave granted for somatic conditions. A large part of all sick leave is related to specific phobia, due to the high prevalence of this disorder. The impairment associated with this common disorder may be under-acknowledged, and it could decrease work capacity among
Torvik, Fartein Ask; Reichborn-Kjennerud, Ted; Gjerde, Line C; Knudsen, Gun Peggy; Ystrom, Eivind; Tambs, Kristian; Røysamb, Espen; Østby, Kristian; Ørstavik, Ragnhild
Mental disorders strongly influence work capability in young adults, but it is not clear which disorders that are most strongly associated with sick leave, and which diagnoses that are stated on the sick leave certificates. Better knowledge of the impairments associated with different mental disorders is needed for optimal planning of interventions and prioritization of health services. In the current study, we investigate the prospective associations between eight mood, anxiety, and alcohol use disorders, and later sick leave granted for mental, somatic, or any disorder. Lifetime mental disorders were assessed by structured diagnostic interviews in 2,178 young adults followed for eight years with registry data on sick leave. Relative risk ratios were estimated for the associations between each mental disorder and the different forms of sick leave. All included diagnoses were associated with later sick leave. In adjusted analyses, major depressive disorder and generalized anxiety disorder were the strongest predictors of sick leave granted for mental disorders, whereas social anxiety disorder and specific phobia were the strongest predictors of sick leave granted for somatic disorders. Specific phobia and major depressive disorder had the highest attributable fractions for all-cause sick leave. Mood and anxiety disorders constituted independent risk factors for all cause sick leave, whereas alcohol use disorders seemed to be of less importance in young adulthood. Disorders characterised by distress were most strongly associated with sick leave granted for mental disorders, whereas disorders characterised by fear primarily predicted sick leave granted for somatic conditions. A large part of all sick leave is related to specific phobia, due to the high prevalence of this disorder. The impairment associated with this common disorder may be under-acknowledged, and it could decrease work capacity among individuals with somatic disorders. This disorder has good treatment
Maggi, Mario; Buvat, Jaques; Corona, Giovanni; Guay, André; Torres, Luiz Otavio
Besides hypogonadism, other endocrine disorders have been associated with male sexual dysfunction (MSD). To review the role of the pituitary hormone prolactin (PRL), growth hormone (GH), thyroid hormones, and adrenal androgens in MSD. A systematic search of published evidence was performed using Medline (1969 to September 2011). Oxford Centre for Evidence-Based Medicine-Levels of Evidence (March 2009) was applied when possible. The most important evidence regarding the role played by PRL, GH, thyroid, and adrenal hormone was reviewed and discussed. Only severe hyperprolactinemia (>35 ng/mL or 735 mU/L), often related to a pituitary tumor, has a negative impact on sexual function, impairing sexual desire, testosterone production, and, through the latter, erectile function due to a dual effect: mass effect and PRL-induced suppression on gonadotropin secretion. The latter is PRL-level dependent. Emerging evidence indicates that hyperthyroidism is associated with an increased risk of premature ejaculation and might also be associated with erectile dysfunction (ED), whereas hypothyroidism mainly affects sexual desire and impairs the ejaculatory reflex. However, the real incidence of thyroid dysfunction in subjects with sexual problems needs to be evaluated. Prevalence of ED and decreased libido increase in acromegalic patients; however, it is still a matter of debate whether GH excess (acromegaly) may create effects due to a direct overproduction of GH/insulin-like growth factor 1 or because of the pituitary mass effects on gonadotropic cells, resulting in hypogonadism. Finally, although dehydroepiandrosterone (DHEA) and its sulfate have been implicated in a broad range of biological derangements, controlled trials have shown that DHEA administration is not useful for improving male sexual function. While the association between hyperprolactinemia and hypoactive sexual desire is well defined, more studies are needed to completely understand the role of other hormones in
Xenakis, Sappho; Cheliotis, L.K.
This article examines the unrest that emanated in Athens and rolled out across Greek cities in December 2008 as a case through which to advance understanding of how local, national and international arenas may together shape localised episodes of disorder. We begin by addressing the proximate and structural causes of the unrest, before turning to explore the multifarious character of protest actions, including novel and derivative forms of contestation deployed by protestors, and public debat...
Full Text Available BACKGROUNDPatient’s anamnesis is of primary importance in determining hemostatic disorders. Based on anamnestic data, a clinician may decide for further laboratory tests. We must consider an acquired bleeding disorder in a patient with unusual, unexpected and prolonged bleeding episodes. In this article we will describe two rare acquired hemostatic disordes.TWO CASE REPORTSOur first patient had prolonged bleeding after a pacemaker implantation. We diagnosed him with acquired von Willebrand syndrome. Further on, the patient required a planned surgical procedure. In our second case we describe a patient with unusual and excessive skin bruising and prolonged bleeding after teeth extractions. He was diagnosed with acquired hemophilia.CONCLUSIONIn the assessment of a patient with a potential acquired bleeding disorder we must first rule out the most common causes, such as iatrogenic ones. But, because of high morbidity and mortality rates, we must also be aware of some rare acquired bleeding disorders. In case of uncertainty, we should consult with a hematologist.
Explanation of the genetic basis of autism spectrum disorders has, for many decades, been a part of interest of researchers and clinicians. In recent years, thanks to modern molecular and cytogenetic techniques, a significant progress has been achieved in the diagnosis of genetic causes of autism. This applies particularly, but not exclusively, to those cases of autism that are accompanied by other clinical signs (i. e. complex phenotypes). The important clinical markers belong to different categories, and include congenital defects/anomalies, dysmorphism and macro-/microcephaly, to name the few. Thus, the choice of the diagnostic strategy depends on the clinical and pedigree information and, under Polish circumstances, the availability of specific diagnostic techniques and the amount of reimbursement under the National Health Service. Overall, the identification of the genetic causes of autism spectrum disorders is possible in about 10-30% of patients. In this paper the practical aspects of the use of different diagnostic techniques are briefly described. Some clinical examples and current recommendations for the diagnosis of patients with autism spectrum disorders are also presented. The point of view of a specialist in clinical genetics, increasingly involved, as part of the multidisciplinary care team, in the diagnostics of an autistic child has been demonstrated.
Humans are continuously exposed to neurotoxic compounds in the environment. The developing brain is more susceptible to neurotoxic compounds and modifications in its growth could lead to disorders in adulthood. Uranium (U) is an environmental heavy metal and induces behavioral disorders as well as affects neurochemistry. The aim of my thesis was to investigate whether depleted uranium (DU) exposure affects neuro-genesis processes, which are implicated in brain development and in synaptic plasticity in adults. While DU increased cell proliferation in the hippocampal neuro-epithelium and decreased cell death at prenatal stages, DU lead to opposite effects in the dentate gyrus at postnatal stages. Moreover, DU had an inhibitory effect on the transition toward neuronal differentiation pathway during development. At adult stage, DU induced a decrease in neuronal differentiation but has no impact in cell proliferation. Finally, DU exposure during brain development caused depressive like behavior at late postnatal and adult stage, and decreased spatial memory at adult stage. Consequently, DU exposure during brain development caused modification in neuro-genesis processes associated to cognitive and emotional disorders at adult age. U could present a threat to human health, especially in pregnant women and children. (author)
Full Text Available Abstract Background Surveys of the public in a range of Western countries have shown a predominant belief in social stressors as causes of mental disorders. However, there has been little direct cross-cultural comparison. Here we report a comparison of public beliefs about the causes of mental disorders in Japan and Australia. Methods Surveys of the public were carried out in each country using as similar a methodology as feasible. In both countries, household interviews were carried out concerning beliefs about causes and risk factors in relation to one of four case vignettes, describing either depression, depression with suicidal thoughts, early schizophrenia or chronic schizophrenia. In Japan, the survey involved 2000 adults aged between 20 and 69 from 25 regional sites spread across the country. In Australia, the survey involved a national sample of 3998 adults aged 18 years or over. Results In both countries, both social and personal vulnerability causes were commonly endorsed across all vignettes. The major differences in causal beliefs were that Australians were more likely to believe in infection, allergy and genetics, while Japanese were more likely to endorse "nervous person" and "weakness of character". For risk factors, Australians tended to believe that women, the young and the poor were more at risk of depression, but these were not seen as higher risk groups by Japanese. Conclusion In both Japan and Australia, the public has a predominant belief in social causes and risk factors, with personal vulnerability factors also seen as important. However, there are also some major differences between the countries. The belief in weakness of character as a cause, which was stronger in Japan, is of particular concern because it may reduce the likelihood of seeking professional help and support from others.
Hjorthøj, Carsten; Østergaard, Marie Louise Drivsholm; Benros, Michael Eriksen
BACKGROUND: People with severe mental illness have both increased mortality and are more likely to have a substance use disorder. We assessed the association between mortality and lifetime substance use disorder in patients with schizophrenia, bipolar disorder, or unipolar depression. METHODS: In...
Kroeger, S.; Klutmann, S.; Bohuslavizki, K.H.; Clausen, M.; Sawula, J.A.; Brenner, W.; Henze, E.
Aim: Effect of radiosynovectomy (RS) should be evaluated both by subjective and objective parameters in patients with osteoarthritis and in patients with inflammatory joint disorders not caused by rheumatoid arthritis. Methods: A total of 98 joints in 61 patients were investigated. Patients were divided into two groups. The first group included 35 patients with therapy-resistant effusions caused by severe osteoarthritis (46 joints). The second group consisted of 26 patients (52 joints) with ankylosing spondylitis, reactive arthritis, undifferentiated spondylarthropathy, psoriatic arthritis, pigmented villo-nodular synovitis, and recurrent synovitis following surgery. Effect of RS was evaluated by a standardized questionnaire and quantified by T/B-ratios derived from blood pool images prior to and after RS. Results: Within the first patient group suffering from osteoarthritis, 40% showed a good or excellent improvement of clinical symptoms, 51% were unchanged, and in 9% symptoms worsened. Similar results were found in the second patient group. The majority of unchanged results were small finger joints. In contrast, wrist and knee joints showed a better improvement. Good correlation between results of bone scan and patients subjective impression was found in 38% and 67% in the first and the second patient group, respectively. Conclusion: Radiosynovectomy might be an effective treatment in osteoarthritis and inflammatory joint disorders not caused by rheumatoid arthritis. (orig.) [de
The physiological effects of Fusarium oxysporum on in-root parasitic weed, Orobanche spp. (broomrape) with references to change in plant hormones and secondary plant constituents were investigated. The levels of IAA, GA, ABA and JA in the experimental group were significantly lower than those in the control group, while the level of SA was higher in the experimental group. In secondary metabolic studies, the quantities of various phenols were measured in the two groups and catechin, syringic acid and p-coumaric acid amounts were significantly higher in the experimental group than in the control group, unlike gallic acid which have a lower amount. Consequently, in the light of all data, it was concluded that Fusarium oxysporum (1) causes heavy hormonal disorder, (2) triggered only SA-mediated defense and (3) induced intensively accumulation of phenolic substances in orobanche. Fusarium oxysporum causes lethal physiological damage on Orobanche spp.
Stevenson, W S; Morel-Kopp, M-C; Chen, Q; Liang, H P; Bromhead, C J; Wright, S; Turakulov, R; Ng, A P; Roberts, A W; Bahlo, M; Ward, C M
GFI1B is a transcription factor important for erythropoiesis and megakaryocyte development but previously unknown to be associated with human disease. A family with a novel bleeding disorder was identified and characterized. Genetic linkage analysis and massively parallel sequencing were used to localize the mutation causing the disease phenotype on chromosome 9. Functional studies were then performed in megakaryocytic cell lines to determine the biological effects of the mutant transcript. We have identified a family with an autosomal dominant bleeding disorder associated with macrothrombocytopenia, red cell anisopoikilocytosis, and platelet dysfunction. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other family members exhibit only abnormal bleeding with surgery. A single nucleotide insertion was identified in GFI1B that predicts a frameshift mutation in the fifth zinc finger DNA-binding domain. This mutation alters the transcriptional activity of the protein, resulting in a reduction in platelet α-granule content and aberrant expression of key platelet proteins. GFI1B mutation represents a novel human bleeding disorder, and the described phenotype identifies GFI1B as a critical regulator of platelet shape, number, and function. © 2013 International Society on Thrombosis and Haemostasis.
Dutta, Rina; Boydell, Jane; Kennedy, Noel; VAN Os, Jim; Fearon, Paul; Murray, Robin M
The high risk of suicide in bipolar disorder is well recognized, but may have been overestimated. There is conflicting evidence about deaths from other causes and little known about risk factors for suicide. We aimed to estimate suicide and mortality rates in a cohort of bipolar patients and to identify risk factors for suicide. All patients who presented for the first time with a DSM-IV diagnosis of bipolar I disorder in a defined area of southeast London over a 35-year period (1965-1999) were identified. Mortality rates were compared with those of the 1991 England and Wales population, indirectly standardized for age and gender. Univariate and multivariate analyses were used to test potential risk factors for suicide. Of the 239 patients in the cohort, 235 (98.3%) were traced. Forty-two died during the 4422 person-years of follow-up, eight from suicide. The standardized mortality ratio (SMR) for suicide was 9.77 [95% confidence interval (CI) 4.22-19.24], which, although significantly elevated compared to the general population, represented a lower case fatality than expected from previous literature. Deaths from all other causes were not excessive for the age groups studied in this cohort. Alcohol abuse [hazard ratio (HR) 6.81, 95% CI 1.69-27.36, p=0.007] and deterioration from pre-morbid level of functioning up to a year after onset (HR 5.20, 95% CI 1.24-21.89, p=0.024) were associated with increased risk of suicide. Suicide is significantly increased in unselected bipolar patients but actual case fatality is not as high as previously claimed. A history of alcohol abuse and deterioration in function predict suicide in bipolar disorder.
Penn, Claire; Watermeyer, Jennifer; MacDonald, Carol; Moabelo, Colleen
With its diverse cultural and linguistic profile, South Africa provides a unique context to explore contextual influences on the process of genetic counseling. Prior research suggests intergenerational differences regarding models of causation which influence treatment-seeking paths. This pilot study therefore aimed to explore South African traditional beliefs regarding common childhood genetic disorders. Three focus groups were conducted with fifteen grandmothers from different cultural backgrounds in an urban community. Questions pertained to the role of the grandmother, traditional beliefs regarding causes of genetic disorders, explanations of heredity, and prevention and management of genetic disorders. Results indicate a variety of cultural explanations for causes of childhood genetic disorders. These causes can be classified into categories related to lifestyle, behavior, social issues, culture, religion, genetic, and familial causes. Prevention and treatment issues are also highlighted. These findings have implications for genetic counseling practice, which needs to include a greater focus on cultural issues.
Button, Tanya M M; Hewitt, John K; Rhee, Soo Hyun; Young, Susan E; Corley, Robin P; Stallings, Michael C
Conduct disorder (CD) symptoms and substance dependence commonly co-occur. Both phenotypes are highly heritable and a common genetic influence on the covariation has been suggested. The aim of this study was to determine the extent to which genes and environment contribute to the covariance between CD and drug dependence using twins from the Colorado Longitudinal Twin Sample and the Colorado Twin Registry. A total of 880 twin pairs (237 monozygotic [MZ] female, 195 MZ male, 116 dizygotic [DZ] female, 118 DZ male and 214 DZ opposite-sex) aged 13 to 18 (mean = 15.65) were included in the analysis. CD was assessed by lifetime Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV; American Psychiatric Association, 1994) symptom count and a polysubstance dependence vulnerability index was developed from responses to the Composite International Diagnostic Interview--Substance Abuse Module. A bivariate Cholesky Decomposition model was used to partition the cause of variation and covariation of the two phenotypes. No sex-limitation was observed in our data, and male and female parameter estimates were constrained to be equal. Both CD symptoms and dependence vulnerability were significantly heritable, and genes, shared environment and nonshared environment all contributed to the covariation between them. Genes contributed 35% of the phenotypic covariance, shared environment contributed 46%, and nonshared environmental influences contributed the remaining 19% to the phenotypic covariance. Therefore, there appears to be pleiotropic genetic influence on CD symptoms and dependence vulnerability.
Full Text Available Eosinophilic meningitis or encephalitis is a rare disorder and is most commonly caused by Angiostrongylus cantonensis. Humans are accidentally infected when they ingest raw snails or vegetables contaminated with the parasite larvae. Because of the improvement in sanitary food handling practices, the occurrence of A. cantonensis eosinophilic meningitis has been decreasing in Taiwan in recent decades. The common symptoms and signs of eosinophilic meningitis are severe headache, neck stiffness, paresthesia, vomiting, nausea, and fever. Acute urinary retention is a rare presentation. We report a case of A. cantonensis eosinophilic meningitis in an intellectually disabled patient who presented with acute urinary retention without any other meningeal signs. The patient received supportive treatment with corticosteroid therapy and was discharged and received urinary rehabilitation at home.
Full Text Available Abstract The lame sire, unsound for breeding, can cause substantial economic loss due to reduced pregnancies in the beef-producing herd. To test the hypothesis that joint disorder is a possible cause of infertility in beef sires, right and left hind limb bones from 34 beef sires were examined postmortem to identify lesions in the femorotibial, femoropatellar (stifle, tarsocrural, talocalcaneus, and proximal intertarsal (tarsal joints. The bulls were slaughtered during or after the breeding season due to poor fertility results. Aliquots of the cauda epididymal contents taken postmortem from 26 bulls were used for sperm morphology evaluation. As a control, hind limbs (but no semen samples from 11 beef bulls with good fertility results were included. Almost all infertile bulls (30/34 had lesions in at least one joint. Twenty-eight bulls (28/30, 93% had lesions in the stifle joint, and 24 (24/28, 86% of these were bilateral. Fourteen bulls (14/30, 47% had lesions in the tarsal joint, and 10 (10/14, 71% of these were bilateral. Four bulls (4/34, 12% had no lesions, three bulls (3/34, 9% had mild osteoarthritis (OA, 5 (5/34, 15% moderate OA, 17 (17/34, 50% severe OA and 5 (5/34, 15% deformed OA. Almost all OA lesions (97% were characterized as lesions secondary to osteochondrosis dissecans. All the bulls with satisfactory sperm morphology (n = 12/34 had joint lesions, with mostly severe or deformed bilateral lesions (83%. Consequently, the most likely cause of infertility in these 12 bulls was joint disease. Almost all control bulls (10/11 had OA lesions, but most of them were graded as mild (55% or moderate (36%. None of the control bulls had severe lesions or deformed OA. We suggest that joint lesions should be taken into consideration as a contributory cause of reproductive failure in beef sires without symptoms of lameness.
Full Text Available BACKGROUND Headache or cephalgia is one of the commonest symptoms causing pain in head above eyes or the ears, behind the head in the occipital region or in the back of the upper neck causing pain as well as disability to an individual. WHO reports around 47% of adults worldwide will have experienced headache in the last year. Headache maybe primary or secondary. Tension headache is more common type of primary headache. Almost, 90% of adults have tension headache and it is more common in females than males. Migraine headache is third most prevalent disorder worldwide and ranked as seventh highest cause of disability. Migraine headaches are the second most common type of primary headaches, whereas cluster headache, a relatively uncommon type of primary headache affecting less than 1 in every 1000 adults. 1 Many people suffer from mixed headache disorder in which tension headache or secondary headache may trigger migraine. Headache on 15 or more days in every month affects 1.7-4% of the world adult population. Hospital-based studies of migraine shows India is home over 16% of world inhabitants suffering from migraine. MATERIALS AND METHODS In our study, total screening of 1200 cases was done with headache symptomatology reported to Eye OPD directly as well as referred from ENT, Medical, NeuroMedical, Surgical, Neurosurgical, Psychiatry, Orthopaedics and Trauma Ward. A detailed clinical examination and ophthalmological examination was done in 1200 cases. RESULTS Sexual prevalence in our study indicated female with increased prevalence of 46.67% compared to male of 36%. Among 30 cases of migrainous headache with or without aura, the sexual prevalence in our study has female-to-male ratio as 2:1 (female - 20 cases and male - 10 cases. No cluster headache disorder was reported in our study. Among the tension headache presented with ocular manifestations like association of the refractive error, redness, burning sensation, the female prevalence among
Lombó, Marta; Fernández-Díez, Cristina; González-Rojo, Silvia; Navarro, Claudia; Robles, Vanesa; Herráez, María Paz
Bisphenol A (BPA) is an endocrine disruptor used in manufacturing of plastic devices, resulting in an ubiquitous presence in the environment linked to human infertility, obesity or cardiovascular diseases. Both transcriptome and epigenome modifications lie behind these disorders that might be inherited transgenerationally when affecting germline. To assess potential effects of paternal exposure on offspring development, adult zebrafish males were exposed to BPA during spermatogenesis and mated with non-treated females. Results showed an increase in the rate of heart failures of progeny up to the F2, as well as downregulation of 5 genes involved in cardiac development in F1 embryos. Moreover, BPA causes a decrease in F0 and F1 sperm remnant mRNAs related to early development. Results reveal a paternal inheritance of changes in the insulin signaling pathway due to downregulation of insulin receptor β mRNAs, suggesting a link between BPA male exposure and disruption of cardiogenesis in forthcoming generations. - Highlights: • We examine the effects of adult male exposure to BPA on the progeny (F1 and F2). • Paternal exposure promotes similar cardiac malformations to those caused by direct exposure. • BPA applied during spermatogenesis decrease the insra and insrb transcripts in spermatozoa. • Sperm insrb transcript controls embryonic expression being the downregulation inherited by F1. • Paternal BPA exposure impairs heart development in F1 and F2 disrupting insulin signaling pathway. - Paternal bisphenol A exposure impairs cardiac development throughout generations.
Full Text Available Complicated tooth extractions may lead to various post-extraction complications, including Temporomandibular Joint Disorders (TMD. Despite of the rare incidence, a delayed treatment of the TMD will cause more problems in the future as well as increased morbidity rate. The purpose of the current study was to elaborate the symptoms as well as the management of TMD as a post tooth extraction complication. The types of TMD as a post tooth extraction complication includes dislocated condyle, osteoarthritis, fracture condyle and disc displacement. These type of complications may resulted from an extensive opening of the mouth as well as an over pressure on the mandible during tooth extraction. In relation to this, some of the TMD symptoms that might cause a certain level of interference for patients may include pain, limited mouth opening and joint sounds, with pain and limited mouth opening as the initial symptoms. The first measure of the pain management would be warm light compress around the TMJ followed by a soft diet for food intake. A definitive treatment should then be based on the diagnosis of the TMD. It is concluded that TMD may occur as a complication of a tooth extraction that initiated by pain and limited mouth opening. Immediate treatment would be pain relieve and load reduction of the Temporomandibular Joint by employing soft diet and mandibular movement restriction.
Lee, Gyung Min; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won
The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans. Here, we report a 4.2-year-old SRY-negative 46,XX boy with complete sex reversal caused by SOX9 duplication for the first time in Korea. He showed normal external and internal male genitalia except for small testes. Fluorescence in situ hybridization and polymerase chain reaction (PCR) analyses failed to detect the presence of SRY, and SOX9 intragenic mutation was not identified by direct sequencing analysis. Therefore, we performed real-time PCR analyses with specific primer pairs, and duplication of the SOX9 gene was revealed. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management.
Verdú, José R.; Cortez, Vieyle; Ortiz, Antonio J.; González-Rodríguez, Estela; Martinez-Pinna, Juan; Lumaret, Jean-Pierre; Lobo, Jorge M.; Numa, Catherine; Sánchez-Piñero, Francisco
Ivermectin is a veterinary pharmaceutical generally used to control the ecto- and endoparasites of livestock, but its use has resulted in adverse effects on coprophilous insects, causing population decline and biodiversity loss. There is currently no information regarding the direct effects of ivermectin on dung beetle physiology and behaviour. Here, based on electroantennography and spontaneous muscle force tests, we show sub-lethal disorders caused by ivermectin in sensory and locomotor systems of Scarabaeus cicatricosus, a key dung beetle species in Mediterranean ecosystems. Our findings show that ivermectin decreases the olfactory and locomotor capacity of dung beetles, preventing them from performing basic biological activities. These effects are observed at concentrations lower than those usually measured in the dung of treated livestock. Taking into account that ivermectin acts on both glutamate-gated and GABA-gated chloride ion channels of nerve and muscle cells, we predict that ivermectin’s effects at the physiological level could influence many members of the dung pat community. The results indicate that the decline of dung beetle populations could be related to the harmful effects of chemical contamination in the dung.
Martinez-Martinez, P; Molenaar, P C; Losen, M; Hoffmann, C; Stevens, J; de Witte, L D; van Amelsvoort, T; van Os, J; Rutten, B P F
Changes that occur in the behaviour of voltage-gated ion channels and ligand-gated receptor channels due to gene mutations or auto-immune attack are the cause of channelopathies in the central and peripheral nervous system. Although the relation between molecular channel defects and clinical symptoms has been explained in the case of many neuromuscular channelopathies, the pathophysiology of auto-immunity in neuropsychiatric syndromes is still unclear. To review recent findings regarding neuronal auto-immune reactions in severe neuropsychiatric syndromes. Using PubMed, we consulted the literature published between 1990 and August 2014 relating to the occurrence of auto-immune antibodies in severe and persistent neuropsychiatric syndromes. Auto-antibodies have only limited access to the central nervous system, but if they do enter the system they can, in some cases, cause disease. We discuss recent findings regarding the occurrence of auto-antibodies against ligand-activated receptor channels and potassium channels in neuropsychiatric and neurological syndromes, including schizophrenia and limbic encephalitis. Although the occurrence of several auto-antibodies in schizophrenia has been confirmed, there is still no proof of a causal relationship in the syndrome. We still have no evidence of the prevalence of auto-immunity in neuropsychiatric syndromes. The discovery that an antibody against an ion channel is associated with some neuropsychiatric disorders may mean that in future it will be possible to treat patients by means of immunosuppression, which could lead to an improvement in a patient's cognitive abilities.
Prestes, Rosilene A; Colnago, Luiz A; Forato, Lucimara A; Carrilho, Emanuel; Bassanezi, Renato B; Wulff, Nelson A
Citrus sudden death (CSD) is a new disease of sweet orange and mandarin trees grafted on Rangpur lime and Citrus volkameriana rootstocks. It was first seen in Brazil in 1999, and has since been detected in more than four million trees. The CSD causal agent is unknown and the current hypothesis involves a virus similar to Citrus tristeza virus or a new virus named Citrus sudden death-associated virus. CSD symptoms include generalized foliar discoloration, defoliation and root death, and, in most cases, it can cause tree death. One of the unique characteristics of CSD disease is the presence of a yellow stain in the rootstock bark near the bud union. This region also undergoes profound anatomical changes. In this study, we analyse the metabolic disorder caused by CSD in the bark of sweet orange grafted on Rangpur lime by nuclear magnetic resonance (NMR) spectroscopy and imaging. The imaging results show the presence of a large amount of non-functional phloem in the rootstock bark of affected plants. The spectroscopic analysis shows a high content of triacylglyceride and sucrose, which may be related to phloem blockage close to the bud union. We also propose that, without knowing the causal CSD agent, the determination of oil content in rootstock bark by low-resolution NMR can be used as a complementary method for CSD diagnosis, screening about 300 samples per hour.
Meyer, Friederike; Meyer, Thomas D
Looking at chart records bipolar disorder is often misdiagnosed as a psychotic disorder but no study has ever systematically looked into the reasons. One reason for misdiagnoses could be that clinicians use heuristics like the prototype approach in routine practice instead of strictly adhering to the diagnostic criteria. Using an experimental approach we investigated if the use of heuristics can explain when a diagnosis of psychotic disorder is given instead of bipolar disorder. We systematically varied information about the presence or absence of specific symptoms, i.e. hallucinations and decreased need for sleep during a manic episode. Experimentally varied case vignettes were randomly sent to psychiatrists in Southern Germany. The four versions of the case vignette all described the same person in a manic state and differed only in two aspects: the presence or absence of auditory hallucinations and of decreased need for sleep. The psychiatrists were asked to make a diagnosis, to rate their confidence in their diagnosis, and to recommend treatments. Almost half of the 142 psychiatrists (45%) did not diagnose bipolar disorder. Mentioning hallucinations decreased the likelihood of diagnosing bipolar disorder. The information about decreased need for sleep only affected the diagnosis significantly, if schizoaffective disorder was considered a bipolar disorder. Our results suggest that clinicians indeed use heuristics when making diagnostic decisions instead of strictly adhering to diagnostic criteria. More research is needed to better understand diagnostic decision making, especially under real life settings, and this might also be of interest when revising diagnostic manuals such as DSM.
Gratwick-Sarll, Kassandra; Bentley, Caroline; Harrison, Carmel; Mond, Jonathan
Bulimic-type eating disorders are common among young women and associated with high levels of distress and disability and low uptake of mental health care. We examined self-recognition of disordered eating and factors associated with this among female adolescents with bulimic-type eating disorders (n = 139) recruited from a large, population-based sample. A vignette of a fictional character with bulimia nervosa was presented, followed by a series of questions addressing the nature and treatment of the problem described. One of these questions required participants to indicate whether they currently had a problem such as the one described. Self-report measures of eating disorder symptoms, general psychological distress and quality of life were also completed. More than half of participants (58%) did not believe that they currently had a problem with their eating. In multivariable analysis, impairment in emotional well-being and self-induced vomiting were the only variables independently associated with self-recognition. Participants who recognized a problem with their eating were more likely to have sought treatment for an eating problem than those who did not. Recognition of disordered eating among adolescents with bulimic-type eating disorders may be poor and this may be a factor in low uptake of mental health care. Health promotion efforts may need to address the misconception that only bulimic-type disorders involving self-induced vomiting are pathological. © 2014 Wiley Publishing Asia Pty Ltd.
Schreglmann, S R; Gantenbein, A R; Eisele, G; Baumann, C R
Dopaminergic drugs are the mainstay of treatment for restless legs syndrome (RLS). We analyzed the frequency and clinical characteristics of impulse control disorders (ICD) in patients with RLS on transdermal rotigotine treatment. Retrospective case series at a university movement disorder clinic (n = 28, 17 women). Symptoms of ICD were assessed via detailed history taking and scoring with the Zurich Screening Questionnaire for ICD (ZICD) prior to and after initiation of treatment. None of the patients had a history of ICD prior to treatment. Baseline mean scores for patients who did (8.0 ± 2.5) and did not (6.2 ± 2.7) develop ICD under treatment did not differ. Six male patients (21%) developed various symptoms of ICD (mean ZICD scores 20.7 ± 10.2) on rotigotine treatment (mean dose: 3.8 mg/d), including binge eating, hypersexuality, compulsive shopping, pathological gambling, and punding, equaling a prevalence rate of 21%. Also in the non-ICD group, ZICD scores increased (7.5 ± 2.8). This is the first report of ICD in patients treated with transdermal rotigotine for RLS. In contrast to literature, even low doses of rotigotine (mean 3.8 mg/d) can cause ICD. Therefore every prescribing physician should be aware that ICD may emerge in both RLS and PD patients on any dopaminergic treatment, and should actively ask for such symptoms. The ZICD questionnaire not only replicated the findings of detailed history taking but also showed an increased tendency towards impulsive behaviour in subjects that did not develop ICD. Copyright © 2011 Elsevier Ltd. All rights reserved.
Wortmann, Saskia B; Ziętkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias B; Gersting, Søren W; Muntau, Ania C; Rakovic, Aleksandar; Renkema, G Herma; Rodenburg, Richard J; Strom, Tim M; Meitinger, Thomas; Rubio-Gozalbo, M Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop H; van Karnebeek, Clara; Lillquist, Yolanda; Lücke, Thomas; Õunap, Katrin; Zordania, Riina; Yaplito-Lee, Joy; van Bokhoven, Hans; Spelbrink, Johannes N; Vaz, Frédéric M; Pras-Raves, Mia; Ploski, Rafal; Pronicka, Ewa; Klein, Christine; Willemsen, Michel A A P; de Brouwer, Arjan P M; Prokisch, Holger; Katsanis, Nicholas; Wevers, Ron A
We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early death. Exome sequencing of two unrelated individuals and subsequent Sanger sequencing of 16 individuals with an overlapping phenotype identified a total of 14 rare, predicted deleterious alleles in CLPB in 14 individuals from 9 unrelated families. CLPB encodes caseinolytic peptidase B homolog ClpB, a member of the AAA+ protein family. To evaluate the relevance of CLPB in the pathogenesis of this syndrome, we developed a zebrafish model and an in vitro assay to measure ATPase activity. Suppression of clpb in zebrafish embryos induced a central nervous system phenotype that was consistent with cerebellar and cerebral atrophy that could be rescued by wild-type, but not mutant, human CLPB mRNA. Consistent with these data, the loss-of-function effect of one of the identified variants (c.1222A>G [p.Arg408Gly]) was supported further by in vitro evidence with the mutant peptides abolishing ATPase function. Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease [caused by HAX1 mutations]). Taken together, mutations in CLPB define a syndrome with intellectual disability, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic aciduria. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Banner, Jytte; Kølvraa, S; Gregersen, N
Disorders of fatty acid metabolism are known to be responsible for cases of sudden and unexpected death in infancy. At least 14 disorders are known at present. 120 cases of sudden infant death syndrome (SIDS) had been examined for a prevalent mutation (G985) causing medium chain acyl Co......A dehydrogenase deficiency, which is inherited in an autosomal recessive mode. No over-representation of either homozygous or heterozygous cases was found....
Full Text Available Risks of eye damage and eyesight deterioration to a great extent depend on how efficient a biomechanical eye system is under energy-saving lighting conditions. The system's efficiency is determined by its adequacy in managing pupils and ciliary muscle. We analyzed mathematical models describing changes in pupil's diameter which were determined by light-technical parameters of illumination environment (luminance level and brightness. We highlighted the importance of ganglionic cells and the role they play in managing pupil's diameter (miosis when they are exposed to blue light within 480 nm spectrum. Basing on the assessment of a pupil's constriction under exposure to various light stimuli (blue, red, and green ones we worked out a melanopsin effect concept of a pupil's retention at miosis and showed that it could be a diagnostic sign of some diseases (age-related direct retinopathy, pancreatic diabetes under exposure to a blue light impulse with a certain wave length. Under exposure to blue light within 480 nm spectrum ganglionic cells form a managing signal for a sphincter muscle of a pupil and ciliary muscle which provides accommodation (as per Helmholtz and regulates aqueous humor flow in ciliary channel. All modern energy-saving light sources have a low energy level at wave length equal to 480 nm due to gap in their spectrum in comparison with sunlight spectrum with the same light temperature and luminance level. Inadequate management of pupil's diameter under artificial lighting conditions leads to melanopsin effect disorders and causes disharmony in managing aqueous humor outflow. All the above-stated factors under long-term visual load cause eye diseases risks in modern illumination environment. We detected that contemporary mathematic models describing pupil's diameter fluctuations needed to be refined allowing for new knowledge on functional peculiarities of retina cells and energy-saving light sources spectrum.
We investigate the motion of the globally coupled maps (logistic map) driven by uniform disorder. It is shown that this disorder can produce multi-synchronization for the globally coupled chaotic maps studied by us. The disorder determines the synchronized dynamics, leading to the emergence of a wide range of new collective behaviour in which the individual units in isolation are incapable of producing in the absence of the disorder. Our results imply that the disorder can tame the collective motion of the coupled chaotic maps
Ohba, Chihiro; Shiina, Masaaki; Tohyama, Jun; Haginoya, Kazuhiro; Lerman-Sagie, Tally; Okamoto, Nobuhiko; Blumkin, Lubov; Lev, Dorit; Mukaida, Souichi; Nozaki, Fumihito; Uematsu, Mitsugu; Onuma, Akira; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Miyake, Noriko; Tanaka, Fumiaki; Kato, Mitsuhiro; Ogata, Kazuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi
Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing (WES) analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRIN1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations. Eighty-eight patients with unclassified early onset epileptic encephalopathies (EOEEs) with an age of onset stereotypic hand movements were observed in two and three patients, respectively. All the four patients exhibited only nonspecific focal and diffuse epileptiform abnormality, and never showed suppression-burst or hypsarrhythmia during infancy. A de novo mosaic mutation (c.1923G>A) with a mutant allele frequency of 16% (in DNA of blood leukocytes) was detected in one patient. Three mutations were located in the transmembrane domain (3/4, 75%), and one in the extracellular loop near transmembrane helix 1. All the mutations were predicted to impair the function of the NMDA receptor. Clinical features of de novo GRIN1 mutations include infantile involuntary movements, seizures, and hand stereotypies, suggesting that GRIN1 mutations cause encephalopathy resulting in seizures and movement disorders. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.
Full Text Available Hemolytic uremic syndrome (HUS is an unrare and severe thrombotic microangiopathy (TMA caused by several pathogenetic mechanisms among which Shiga toxin-producing Escherichia coli infections and complement dysregulation are the most common. However, very rarely and particularly in neonates and infants, disorders of cobalamin metabolism (CblC can present with or be complicated by TMA. Herein we describe a case of atypical HUS (aHUS related to CblC disease which first presented in a previously healthy boy at age of 13.6 years. The clinical picture was initially dominated by nephrotic range proteinuria and severe hypertension followed by renal failure. The specific treatment with high dose of hydroxycobalamin rapidly obtained the remission of TMA and the complete recovery of renal function. We conclude that plasma homocysteine and methionine determinations together with urine organic acid analysis should be included in the diagnostic work-up of any patient with TMA and/or nephrotic syndrome regardless of age.
Zhanna E. Belaya
Full Text Available Endogenous hypercortisolism (EH is a rare endocrine disorder, one of the most frequent manifestations of which is obesity. Due to the high prevalence of the metabolic syndrome and the similarity of the clinical manifestations, EH may remain undiagnosed. However, prompt diagnosis and treatment can effectively promote complete cure of the patient. We describe the clinical case of a patient К., 58 years old, who suffered from morbid obesity, diabetes, uncontrolled hypertension and dyslipidemia. The CT examination revealed bilateral adrenal incidentalomas. The further follow-up let us to establish Cushing's disease. The adrenal tumors in this case may be the results of a long-term stimulation of the adrenal glands by ACTH. There is a possibility that the first manifestation of the disease began at the age of 30 years after the second pregnancy, when she observed weight gain and poorly controlled hypertension. When remission was achieved after neurosurgical treatment, we could observe significant improvements (reduction in body weight of 10 kg, improved glucose levels, but without the full normalization of all complications and symptoms. Conclusion: EH may cause the development of obesity and metabolic syndrome or significantly exacerbate its course. In cases of doubt, weight gain and poorly controlled manifestations of metabolic syndrome screening is justified to exclude EH.
In this paper, a report was made on 8 cases of disorders caused by radiation injury in the hand and fingers and on those treatment. In 5 cases of them, keratosis of the skin (an average of 10 years after the initial fluoloscopy) and ulceration (an average of 17 years after the initial one) due to x-ray fluoloscopy were noted. Cancer was found in 2 cases of them and precancer in the other 2 cases of them. The lesions continued to develop after radiation was stopped. In 2 cases which had received x-ray irradiation for the treatment, one case developed erosion one year after the institution of the therapy and the other had the similar change two years after that. In both of the cases, precancerous state was noticed. In the last case, erosion appeared 6 years after the patient had dealt with radium in giving treatment. Ulceration appeared 16 years after the patient had dealt with radium in giving treatment. In 4 cases in which lesions had been restricted in the corium layer, the treatment was the resection of the skin and dermatoplasty, and thus the function of the fingers recovered. In the other 4 cases in which the pathological changes had spreaded over the deeper layers, the fingers were severed. (Serizawa, K.)
Kutkowska-Kaźmierczak, Anna; Rydzanicz, Małgorzata; Chlebowski, Aleksander; Kłosowska-Kosicka, Kamila; Mika, Adriana; Gruchota, Jakub; Jurkiewicz, Elżbieta; Kowalewski, Cezary; Pollak, Agnieszka; Stradomska, Teresa Joanna; Kmieć, Tomasz; Jakubowski, Rafał; Gasperowicz, Piotr; Walczak, Anna; Śladowski, Dariusz; Jankowska-Steifer, Ewa; Korniszewski, Lech; Kosińska, Joanna; Obersztyn, Ewa; Nowak, Wieslaw; Śledziński, Tomasz; Dziembowski, Andrzej; Płoski, Rafał
Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD) observed in two unrelated paediatric probands without family history of disease. Whole exome sequencing was performed in both patients. The functional effect of prioritised variant in ELOVL1 (very-long-chain fatty acids (VLCFAs) elongase) was analysed by VLCFA profiling by gas chromatography-mass spectrometry in stably transfected HEK2932 cells and in cultured patient's fibroblasts. Probands shared novel heterozygous ELOVL1 p.Ser165Phe mutation (de novo in one family, while in the other family, father could not be tested). In transfected cells p.Ser165Phe: (1) reduced levels of FAs C24:0-C28:0 and C26:1 with the most pronounced effect for C26:0 (P=7.8×10 -6 vs HEK293 cells with wild type (wt) construct, no difference vs naïve HEK293) and (2) increased levels of C20:0 and C22:0 (P=6.3×10 -7 , P=1.2×10 -5 , for C20:0 and C22:0, respectively, comparison vs HEK293 cells with wt construct; P=2.2×10 -7 , P=1.9×10 -4 , respectively, comparison vs naïve HEK293). In skin fibroblasts, there was decrease of C26:1 (P=0.014), C28:0 (P=0.001) and increase of C20:0 (P=0.033) in the patient versus controls. There was a strong correlation (r=0.92, P=0.008) between the FAs profile of patient's fibroblasts and that of p.Ser165Phe transfected HEK293 cells. Serum levels of C20:0-C26:0 FAs were normal, but the C24:0/C22:0 ratio was decreased. The ELOVL1 p.Ser165Phe mutation is a likely cause of IKSHD. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Weaving, Linda S.; Christodoulou, John; Williamson, Sarah L.; Friend, Kathie L.; McKenzie, Olivia L. D.; Archer, Hayley; Evans, Julie; Clarke, Angus; Pelka, Gregory J.; Tam, Patrick P. L.; Watson, Catherine; Lahooti, Hooshang; Ellaway, Carolyn J.; Bennetts, Bruce; Leonard, Helen; Gécz, Jozef
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree of phenotypic variation has been observed in patients with RTT, both those with and without MECP2 mutations. We describe a family consisting of a proband with a phenotype that showed considerable overlap with that of RTT, her identical twin sister with autistic disorder and mild-to-moderate intellectual disability, and a brother with profound intellectual disability and seizures. No pathogenic MECP2 mutations were found in this family, and the Xq28 region that contains the MECP2 gene was not shared by the affected siblings. Three other candidate regions were identified by microsatellite mapping, including 10.3 Mb at Xp22.31-pter between Xpter and DXS1135, 19.7 Mb at Xp22.12-p22.11 between DXS1135 and DXS1214, and 16.4 Mb at Xq21.33 between DXS1196 and DXS1191. The ARX and CDKL5 genes, both of which are located within the Xp22 region, were sequenced in the affected family members, and a deletion of nucleotide 183 of the coding sequence (c.183delT) was identified in CDKL5 in the affected family members. In a screen of 44 RTT cases, a single splice-site mutation, IVS13-1G→A, was identified in a girl with a severe phenotype overlapping RTT. In the mouse brain, Cdkl5 expression overlaps—but is not identical to—that of Mecp2, and its expression is unaffected by the loss of Mecp2. These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation. These results also suggest that mutations in CDKL5 can lead to a clinical phenotype that overlaps RTT. However, it remains to be determined whether CDKL5 mutations are more prevalent in specific clinical subgroups of RTT or in other clinical presentations. PMID:15492925
Wartberg, Lutz; Kriston, Levente; Zieglmeier, Matthias; Lincoln, Tania; Kammerl, Rudolf
In 2013, Internet gaming disorder (IGD) was incorporated in the current version of the DSM-5. IGD refers to a problematic use of video games. Longitudinal studies on the etiology of IGD are lacking. Furthermore, it is currently unclear to which extent associated psychopathological problems are causes or consequences of IGD. In the present survey, longitudinal associations between IGD and adolescent and parental mental health were investigated for the first time, as well as the temporal stability of IGD. In a cross-lagged panel design study, family dyads (adolescent with a parent each) were examined in 2016 (t1) and again 1 year later (2017, t2). Overall, 1095 family dyads were assessed at t1 and 985 dyads were re-assessed at t2 with standardized measures of IGD and several aspects of adolescent and parental mental health. Data were analyzed with structural equation modeling (SEM). Male gender, a higher level of hyperactivity/inattention, self-esteem problems and IGD at t1 were predictors of IGD at t2. IGD at t1 was a predictor for adolescent emotional distress at t2. Overall, 357 out of the 985 adolescents received a diagnosis of IGD at t1 or t2: 142 (14.4%) at t1 and t2, 100 (10.2%) only at t1, and 115 (11.7%) only at t2. Hyperactivity/inattention and self-esteem problems seem to be important for the development of IGD. We found first empirical evidence that IGD could prospectively contribute to a deterioration of adolescent mental health. Only a subgroup of affected adolescents showed IGD consistently over 1 year.
Goin-Kochel, Robin P.; Myers, Barbara J.
Recent studies have validated the phenomenon of autistic regression, but little is known about how regressive and congenital onsets of the disorder influence parents' thinking about autism and its etiology. Parents (N = 327) of children with autism spectrum disorders completed an online questionnaire about their children's development.…
Zeanah, Charles H.; Gleason, Mary Margaret
Background: Though noted in the clinical literature for more than 50 years, attachment disorders have been studied systematically only recently. In part because of the ubiquity of attachments in humans, determining when aberrant behavior is best explained as an attachment disorder as opposed to insecure attachment has led to some confusion. In…
Nielsen, Rasmus; Husby, Steffen; Kruse-Andersen, Søren
Deglutition disorders in infancy are often associated with birth asphyxia or structural abnormalities in the hypopharynx, the trachea, or the esophagus. Manometry can be crucial for clarifying the dynamics of the swallowing disorder in the infant with deglutition problems and without signs...
Mori, Yuka; Downs, Jenny; Wong, Kingsley; Heyworth, Jane; Leonard, Helen
Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n…
Hamer, Mark; Batty, G David; Stamatakis, Emmanuel; Kivimaki, Mika
Common mental disorders, such as anxiety and depression, are risk factors for mortality among cardiac patients, although this topic has gained little attention in individuals with hypertension. We examined the combined effects of hypertension and common mental disorder on mortality in participants with both treated and untreated hypertension. In a representative, prospective study of 31 495 adults (aged 52.5 ± 12.5 years, 45.7% men) we measured baseline levels of common mental disorder using the 12-item General Health Questionnaire (GHQ-12) and collected data on blood pressure, history of hypertension diagnosis, and medication use. High blood pressure (systolic/diastolic >140/90 mmHg) in study members with an existing diagnosis of hypertension indicated uncontrolled hypertension and, in undiagnosed individuals, untreated hypertension. There were 3200 deaths from all causes [943 cardiovascular disease (CVD)] over 8.4 years follow-up. As expected, the risk of CVD was elevated in participants with controlled [multivariate hazard ratio = 1.63, 95% confidence interval (CI) 1.26-2.12] and uncontrolled (multivariate hazard ratio = 1.57, 95% CI 1.08-2.27) hypertension compared with normotensive participants. Common mental disorder (GHQ-12 score of ≥4) was also associated with CVD death (multivariate hazard ratio = 1.60, 95% CI 1.35-1.90). The risk of CVD death was highest in participants with both diagnosed hypertension and common mental disorder, especially in study members with controlled (multivariate hazard ratio = 2.32, 95% CI 1.70-3.17) hypertension but also in uncontrolled hypertension (multivariate hazard ratio = 1.90, 95% CI 1.18-3.05). The combined effect of common mental disorder was also apparent in participants with undiagnosed (untreated) hypertension, especially for all-cause mortality. These findings suggest that the association of hypertension with total and CVD mortality is stronger when combined with common mental disorder.
Luzhetsky, K P; Ustinova, O Yu; Shur, P Z; Kiryanov, D A; Dolgikh, O V; Chigvintsev, v M; Perevalov, A Ya
Evaluation of effects caused by environmental peroral exposure to chlorine organic compounds revealed that individuals with AG variation of HTR2A gene are a community with increased sensitivity to chloroform and a risk group for lipid and carbohydrates metabolism disorders. Individual risk of endocrine disorders (ICD: E67.8 excessive nutrition and E66.0 obesity) in these individuals is higher than in general population exposed to chloroform at residence (HQ1.72). Serum serotonin level, that is functionally connected with HTR2A gene, is 1.3 times lower vs. the reference group value.
Kaila-Kangas, Leena; Koskinen, Aki; Leino-Arjas, Päivi; Virtanen, Marianna; Härkänen, Tommi; Lallukka, Tea
Previous studies have not distinguished between different alcohol-use histories, which could have contributed to the current inconsistent evidence regarding the relationship between alcohol use and subsequent sickness absence. We thus examined alcohol use and subsequent diagnosis-specific sickness absence in groups with different levels of alcohol use, as well as in lifelong abstainers, former drinkers, and people with clinical alcohol use disorders. The data of the population-based Health 2000 Survey (BRIF8901) of 3666 Finns aged 30-55 were linked with national registers on medically certified sickness absences lasting for > 10 working days (long-term) for all causes (2000 - 2010) and for mental or musculoskeletal disorders (2004-2010), as well as with registers on pensions and death (2000-2010). Alcohol use was assessed by questionnaire. Chronic somatic diseases were evaluated at baseline in a clinical examination, and common mental and alcohol use disorders using the Composite International Diagnostic Interview (CIDI). Cox regression analyses were conducted with censoring for death and retirement from work. During an average 10-year follow-up, 56.0% of the participants had at least one long-term sickness absence period. Compared with light drinkers, those having an alcohol use disorder had increased risk of all-cause sickness absence (HR = 1.27; 95% CI = 1.04 - 1.54) and sickness absence due to mental disorders (HR = 2.16; 95% CI = 1.39 - 3.35), when somatic and mental disorders as well as demographic, lifestyle-related and occupational factors at baseline were accounted for. Lifelong abstainers did not differ from light drinkers. Also high-volume drinking (HR = 1.52; 95% CI 1.03 - 2.25) and former drinking (HR = 1.57; 95% CI = 1.15 - 2.15) were associated with long-term sickness absence due to mental disorders. Alcohol use was not predictive of sickness absence due to musculoskeletal disorders. These results
Sanna-Cherchi, Simone; Kiryluk, Krzysztof; Burgess, Katelyn E.; Bodria, Monica; Sampson, Matthew G.; Hadley, Dexter; Nees, Shannon N.; Verbitsky, Miguel; Perry, Brittany J.; Sterken, Roel; Lozanovski, Vladimir J.; Materna-Kiryluk, Anna; Barlassina, Cristina; Kini, Akshata; Corbani, Valentina; Carrea, Alba; Somenzi, Danio; Murtas, Corrado; Ristoska-Bojkovska, Nadica; Izzi, Claudia; Bianco, Beatrice; Zaniew, Marcin; Flogelova, Hana; Weng, Patricia L.; Kacak, Nilgun; Giberti, Stefania; Gigante, Maddalena; Arapovic, Adela; Drnasin, Kristina; Caridi, Gianluca; Curioni, Simona; Allegri, Franca; Ammenti, Anita; Ferretti, Stefania; Goj, Vinicio; Bernardo, Luca; Jobanputra, Vaidehi; Chung, Wendy K.; Lifton, Richard P.; Sanders, Stephan; State, Matthew; Clark, Lorraine N.; Saraga, Marijan; Padmanabhan, Sandosh; Dominiczak, Anna F.; Foroud, Tatiana; Gesualdo, Loreto; Gucev, Zoran; Allegri, Landino; Latos-Bielenska, Anna; Cusi, Daniele; Scolari, Francesco; Tasic, Velibor; Hakonarson, Hakon; Ghiggeri, Gian Marco; Gharavi, Ali G.
We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10−11). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD cases harbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 × 10−58). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single individual. Genomic disorders were detected in 22.5% of individuals with multiple malformations and 14.5% of individuals with isolated urinary-tract defects; 14 individuals harbored two or more diagnostic or rare CNVs. Strikingly, the majority of the known CNV disorders detected in the RHD cohort have previous associations with developmental delay or neuropsychiatric diseases. Up to 16.6% of individuals with kidney malformations had a molecular diagnosis attributable to a copy-number disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances. A search for pathogenic CNVs should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay. PMID:23159250
Al-Moraissi, Essam Ahmed; Wolford, Larry M; Perez, Daniel; Laskin, Daniel M; Ellis, Edward
There is still controversy about whether orthognathic surgery negatively or positively affects temporomandibular disorders (TMDs). The purpose of this study was to determine whether orthognathic surgery has a beneficial or deleterious effect on pre-existing TMDs. A systematic review and meta-analysis were conducted based on Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We searched 3 major databases to locate all pertinent articles published from 1980 to March 2016. All subjects in the various studies were stratified a priori into 9 categories based on subdiagnoses of TMDs. The predictor variables were those patients with pre-existing TMDs who underwent orthognathic surgery in various subgroups. The outcome variables were maximal mouth opening and signs and symptoms of a TMD before and after orthognathic surgery based on the type of osteotomy. The meta-analysis was performed using Comprehensive Meta-Analysis software (Biostat, Englewood, NJ). A total of 5,029 patients enrolled in 29 studies were included in this meta-analysis. There was a significant reduction in TMDs in patients with a retrognathic mandible after bilateral sagittal split osteotomy (BSSO) (P = .014), but no significant difference after bimaxillary surgery (BSSO and Le Fort I osteotomy) (P = .336). There was a significant difference in patients with prognathism after isolated BSSO or intraoral vertical ramus osteotomy and after combined BSSO and Le Fort I osteotomy (P = .001), but no significant difference after BSSO (P = .424) or bimaxillary surgery (intraoral vertical ramus osteotomy and Le Fort I osteotomy) (P = .728). Orthognathic surgery caused a decrease in TMD symptoms for many patients who had symptoms before surgery, but it created symptoms in a smaller group of patients who were asymptomatic before surgery. The presence of presurgical TMD symptoms or the type of jaw deformity did not identify which patients' TMDs would improve, remain the
Mental disorders include a wide range of problems, including Anxiety disorders, including panic disorder, obsessive-compulsive disorder, ... disorders, including schizophrenia There are many causes of mental disorders. Your genes and family history may play ...
To explore the mechanism of insomnia caused by "stomach disorder could lead to excess of yang-qiao meridian" and clinical application of treating insomnia with acupoints in qiao meridian as the main points. From meridian theory, intersection between stomach meridian of Foot-Yangming and yang-qiao meridian is through Chengqi (ST 1). Qiao meridian for sleep is mainly because it is connected with eyes through the Bladder Meridian of Foot-Taiyang. For Stomach Meridian of Foot-Yangming is intersected with the Bladder Meridian of Foot-Taiyang in Jingming (BL 1), and intersected with yin and yang qiao meridian beside the mouth and under the eye, once functional disorder of the stomach, it can affect qi movements of the whole body and give rise to various pathological changes that cause insomnia. Meanwhile examples are given to explain the clinical application of treating subborn insomnia with corresponding acupoint of stomach and yang-qiao meridian.
Two voice disorders long considered to be psychological problems, stuttering and spasmodic dysphonia, have been shown in many persons to have a neurophysiological basis. Investigators at the 155th national meeting of the American Association for the Advancement of Science, in San Francisco, described their findings, which are based on new analytic techniques. The research is being done at the Dallas Center for Vocal Motor Control, Callier Center for Communication Disorders, University of Texas at Dallas Health Science Center. The technology employed to learn what's wrong with the brains, rather than the psyches, of persons with certain speech disorders includes magnetic resonance imaging (MRI), brain electrical activity mapping (BEAM), and single photon emission computerized tomography (SPECT). The results of applying these techniques are combined with quantitative behavioral measures of vocal and nonvocal motor control, language performance, and cognition to arrive at a better understanding of the problem.
Two voice disorders long considered to be psychological problems, stuttering and spasmodic dysphonia, have been shown in many persons to have a neurophysiological basis. Investigators at the 155th national meeting of the American Association for the Advancement of Science, in San Francisco, described their findings, which are based on new analytic techniques. The research is being done at the Dallas Center for Vocal Motor Control, Callier Center for Communication Disorders, University of Texas at Dallas Health Science Center. The technology employed to learn what's wrong with the brains, rather than the psyches, of persons with certain speech disorders includes magnetic resonance imaging (MRI), brain electrical activity mapping (BEAM), and single photon emission computerized tomography (SPECT). The results of applying these techniques are combined with quantitative behavioral measures of vocal and nonvocal motor control, language performance, and cognition to arrive at a better understanding of the problem
Corazza, Monica; Minghetti, Sara; Bertoldi, Alberto Maria; Martina, Emanuela; Virgili, Annarosa; Borghi, Alessandro
: The modern conveniences and enjoyment brought about by electronic devices bring with them some health concerns. In particular, personal electronic devices are responsible for rising cases of several skin disorders, including pressure, friction, contact dermatitis, and other physical dermatitis. The universal use of such devices, either for work or recreational purposes, will probably increase the occurrence of polymorphous skin manifestations over time. It is important for clinicians to consider electronics as potential sources of dermatological ailments, for proper patient management. We performed a literature review on skin disorders associated with the personal use of modern technology, including personal computers and laptops, personal computer accessories, mobile phones, tablets, video games, and consoles.
Erlangsen, Annette; Andersen, Per Kragh; Toender, Anita
mortality due to medical diseases and disorders among people with mental disorders emphasises the need for future interventions to address these aspects as well as the continued high shares of excess mortality due to alcohol misuse, suicide, and accidents. FUNDING: The Lundbeck Foundation Initiative...... diseases (men: 1·2; women: 0·3), and respiratory diseases (men: 0·3; women: 0·2), and a decrease for suicide (men: -0·7; women: -0·5) and accidents (men: -0·9; women: -0·5). INTERPRETATION: By applying a novel approach, more precise estimates of life-years lost were obtained. The increase in excess...
In treating Parkinson's disease with dopaminergic agonists, such as pramipexole, ropinirole, pergolide, rotigotine, apomorphine, or bromocriptine, it has been observed that a significant number of patients develop impulse-control disorders, such as compulsive shopping, pathological gambling, or hypersexuality. Because the dopamine agonists have high affinities for the dopamine D2 and D3 receptors, the drug dissociation constants of these drugs at the functional high-affinity states of these receptors, namely D2High and D3High, were compared. The data show that, compared to the other dopamine agonist drugs, pramipexole has a relatively high selectivity for the dopamine D3 receptor, as compared to D2, suggesting that the D3 receptor may be a primary target for pramipexole. There is a trend showing that the proportion of impulse-control disorders is related to the selectivity for D3 receptors over D2 receptors, with pramipexole having the highest association with, or frequency of, impulse-control disorders. While the number of studies are limited, the proportion of patients with impulse-control disorder in Parkinson patients treated with an add-on agonist were 32% for pramipexole, 25% for ropinirole, 16% for pergolide, 22% for rotigotine, 10% for apomorphine, and 6.8% for bromocriptine. Clinically, temporary replacement of pramipexole by bromocriptine may provide relief or reversal of the impulsive behavior associated with selective D3 stimulation by either pramipexole or ropinirole, while maintaining D2 stimulation needed for the anti-Parkinson action. © 2015 Wiley Periodicals, Inc.
Jongbloet, P.H.; Groenewoud, J.M.M.; Roeleveld, N.
OBJECTIVE: A preponderance of births between April and June in patients with anorexia nervosa (AN) and other eating disorders (EDs) has recently been explained by a higher environmental temperature at conception. This hypothesis, however, does not explain some other irregularities in the month of
Pizzimenti, C. L.; Lattal, K. M.
Understanding the interaction between fear and reward at the circuit and molecular levels has implications for basic scientific approaches to memory and for understanding the etiology of psychiatric disorders. Both stress and exposure to drugs of abuse induce epigenetic changes that result in persistent behavioral changes, some of which may contribute to the formation of a drug addiction or a stress-related psychiatric disorder. Converging evidence suggests that similar behavioral, neurobiological and molecular mechanisms control the extinction of learned fear and drug-seeking responses. This may, in part, account for the fact that individuals with post-traumatic stress disorder have a significantly elevated risk of developing a substance use disorder and have high rates of relapse to drugs of abuse, even after long periods of abstinence. At the behavioral level, a major challenge in treatments is that extinguished behavior is often not persistent, returning with changes in context, the passage of time or exposure to mild stressors. A common goal of treatments is therefore to weaken the ability of stressors to induce relapse. With the discovery of epigenetic mechanisms that create persistent molecular signals, recent work on extinction has focused on how modulating these epigenetic targets can create lasting extinction of fear or drug-seeking behavior. Here, we review recent evidence pointing to common behavioral, systems and epigenetic mechanisms in the regulation of fear and drug seeking. We suggest that targeting these mechanisms in combination with behavioral therapy may promote treatment and weaken stress-induced relapse. PMID:25560936
Jansen, Jos C.; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Pérez, Belén; Vicogne, Dorothée; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Pérez-Cerdá, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P.; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A. W.; Holleboom, Adriaan G.; Nassogne, Marie-Cécile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P. H.; Huynen, Martijn A.; Veltman, Joris A.; Wevers, Ron A.; Morava, Eva; Matthijs, Gert; Foulquier, François; Marquardt, Thorsten; Lefeber, Dirk J.
Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly heterogeneous clinical spectrum is not explained by our current understanding of the underlying cell-biological processes in the Golgi. Therefore, uncovering genetic defects and annotating gene function are
, in children who have suffered perinatal adverse events. Evidence is presented to demonstrate that the composition of metabolites in the striatum is altered, primarily in the form of an elevated level of lactate, in human neonates who have suffered various perinatal disorders, such as germinal matrix...
Mouridsen, S.E.; Hansen, H.B.; Rich, B.
This study compared mortality among Danish citizens with autism spectrum disorders (ASDs) with that of the general population. A clinical cohort of 341 Danish individuals with variants of ASD, previously followed over the period 1960-93, now on average 43 years of age, were updated with respect...
Rijcken, CAW; Dekens-Konter, JAM; Knegtering, H; de Jong-van den Berg, LTW
Sexual function disorders are frequent adverse effects of antipsychotic use. These effects can lead to non-compliance to medication, which dramatically worsen the outcome of the psychotic disease. Detecting sexual dysfunction by the carers may be difficult, since feelings of embarrassment may occur
Navarro, Claire Laure; Esteves-Vieira, Vera; Courrier, Sebastien; Boyer, Amandine; Thuy Duong Nguyen, [No Value; Le Thi Thanh Huong, [No Value; Meinke, Peter; Schroeder, Winnie; Cormier-Daire, Valerie; Sznajer, Yves; Amor, David J.; Lagerstedt, Kristina; Biervliet, Martine; van den Akker, Peter C.; Cau, Pierre; Roll, Patrice; Levy, Nicolas; Badens, Catherine; Wehnert, Manfred; De Sandre-Giovannoli, Annachiara
Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density and pulmonary insufficiency generally leading to death in the perinatal period. RD is caused in most
Blair, Nicholas F; Cremer, Philip D; Tchan, Michel C
Urea cycle disorders are inborn errors of metabolism that, in rare cases, can present for the first time in adulthood. We report a perplexing presentation in a woman 4 days postpartum of bizarre and out-of-character behaviour interspersed with periods of complete normality. Without any focal neurological signs or abnormality on initial investigations, the diagnosis became clear with the finding of a significantly elevated plasma ammonia level, just as she began to deteriorate rapidly. She improved following intravenous dextrose and lipid emulsion, together with sodium benzoate, arginine and a protein-restricted diet. She remains well 12 months later with no permanent sequelae. Whilst this is a rare presentation of an uncommon disease, it is a treatable disorder and its early diagnosis can prevent a fatal outcome. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
Felix, Valter Nilton; DeVault, Kenneth; Penagini, Roberto; Elvevi, Alessandra; Swanstrom, Lee; Wassenaar, Eelco; Crespin, Oscar M; Pellegrini, Carlos A; Wong, Roy
The following on achalasia and disorders of the esophageal body includes commentaries on controversies regarding whether patients with complete lower esophageal sphincter (LES) relaxation can be considered to exhibit early achalasia; the roles of different mucle components of the LES in achalasia; sensory neural pathways impaired in achalasia; indications for peroral endoscopic myotomy and advantages of the technique over laparoscopic and thorascopic myotomy; factors contributing to the success of surgical therapy for achalasia; modifications to the classification of esophageal body primary motility disorders in the advent of high-resolution manometry (HRM); analysis of the LES in differentiating between achalasia and diffuse esophageal spasm (DES); and appropriate treatment for DES, nutcracker esophagus (NE), and hypertensive LES (HTLES). © 2013 New York Academy of Sciences.
Won, Hyejung; Mah, Won; Kim, Eunjoon
Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by impairments in social interaction and communication and restricted and repetitive interests/behaviors. Advances in human genomics have identified a large number of genetic variations associated with ASD. These associations are being rapidly verified by a growing number of studies using a variety of approaches, including mouse genetics. These studies have also identified key mechanisms underlying the patho...
Pizzimenti, C L; Lattal, K M
Understanding the interaction between fear and reward at the circuit and molecular levels has implications for basic scientific approaches to memory and for understanding the etiology of psychiatric disorders. Both stress and exposure to drugs of abuse induce epigenetic changes that result in persistent behavioral changes, some of which may contribute to the formation of a drug addiction or a stress-related psychiatric disorder. Converging evidence suggests that similar behavioral, neurobiological and molecular mechanisms control the extinction of learned fear and drug-seeking responses. This may, in part, account for the fact that individuals with post-traumatic stress disorder have a significantly elevated risk of developing a substance use disorder and have high rates of relapse to drugs of abuse, even after long periods of abstinence. At the behavioral level, a major challenge in treatments is that extinguished behavior is often not persistent, returning with changes in context, the passage of time or exposure to mild stressors. A common goal of treatments is therefore to weaken the ability of stressors to induce relapse. With the discovery of epigenetic mechanisms that create persistent molecular signals, recent work on extinction has focused on how modulating these epigenetic targets can create lasting extinction of fear or drug-seeking behavior. Here, we review recent evidence pointing to common behavioral, systems and epigenetic mechanisms in the regulation of fear and drug seeking. We suggest that targeting these mechanisms in combination with behavioral therapy may promote treatment and weaken stress-induced relapse. © 2015 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.
Manuel Glauco Carbone
Full Text Available Delirious mania is a severe but often underrecognized syndrome characterized by rapid onset of delirium, mania, and psychosis, not associated with a prior toxicity, physical illness, or mental disorder. We discuss the case of a delirious mania potentially triggered and maintained by a systemic hypotension induced by antihypertensive drugs. Symptoms recovered completely after the discontinuation of antihypertensive medications and the normalization of blood pressure levels.
Rasheed A. Rabbani, I. Ahmad*, L. A. Lodhi, N. Ahmad and G. Muhammad1
Full Text Available The present study was conducted to investigate the prevalence of various reproductive disorders and to estimate the economic losses due to genital prolapse in buffaloes in Sir Shamir area of District Faisalabad, Pakistan. The survey was conducted in 8 villages during the 12 months period from June 2005 to May 2006 and the data from 400 farmers (50 farmers from each village were collected. The total buffalo population of this area was 7,785, out of which 2,135 (27.42% animals were included in the study. The overall prevalence of reproductive disorders in buffaloes was recorded as 46.18%. Among all the reproductive disorders, repeat breeding showed the highest prevalence (15.69%, followed by anestrous (9.74%, genital prolapse (7.73%, abortion (5.99%, retained placenta (2.58%, uterine torsion (2.39% and dystocia (2.06%. The total economic losses due to genital prolapse in buffaloes in eight villages during the period of study were estimated to be Rs. 4,59,500/- Among these, the highest losses were due to mortality of dam (39.17%, followed by milk losses (25.14%, service charges (21.33% and medicine cost (14.36%. Thus, repeat breeding, anoestrus and genital prolapse seem to be the major reproductive problems in buffaloes in the study area.
Lozano, Reymundo; Herman, Kristin; Rothfuss, Melanie; Rieger, Hillary; Bayrak-Toydemir, Pinar; Aprile, Davide; Fruscione, Floriana; Zara, Federico; Fassio, Anna
TBC1D24-related disorders include a wide phenotypic ranging from mild to lethal seizure disorders, non-syndromic deafness, and composite syndromes such as DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). The TBC1D24 gene has a role in cerebral cortex development and in presynaptic neurotransmission. Here, we present a familial case of a lethal early-onset epileptic encephalopathy, associated with two novel compound heterozygous missense variants on the TBC1D24 gene, which were detected by exome sequencing. The detailed clinical data of the three siblings is summarized in order to support the variability of the phenotype, severity, and progression of this disorder among these family members. Functional studies demonstrated that the identified novel missense mutations result in a loss of expression of the protein, suggesting a correlation between residual expression, and the disease severity. This indicates that protein expression analysis is important for interpreting genetic results when novel variants are found, as well as for complementing clinical assessment by predicting the functional impact. Further analysis is necessary to delineate the clinical presentation of individuals with TBC1D24 pathogenic variants, as well as to develop markers for diagnosis, prognosis, and potential targeted treatments. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.
Background A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affected individuals of a consanguineous Pakistani family exhibiting features of neuro-ichthyotic disorder. Methods Linkage in the family was searched by genotyping microsatellite markers linked to the gene ELOVL4, mapped at chromosome 6p14.1. Exons and splice junction sites of the gene ELOVL4 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer. Results DNA sequence analysis revealed a novel homozygous nonsense mutation (c.78C > G; p.Tyr26*). Conclusions Our report further confirms the recently described ELOVL4-related neuro-ichthyosis and shows that the neurological phenotype can be absent in some individuals. PMID:24571530
Full Text Available Abstract Elucidating the neural and genetic factors underlying psychiatric illness is hampered by current methods of clinical diagnosis. The identification and investigation of clinical endophenotypes may be one solution, but represents a considerable challenge in human subjects. Here we report that mice heterozygous for a null mutation of the alpha-isoform of calcium/calmodulin-dependent protein kinase II (alpha-CaMKII+/- have profoundly dysregulated behaviours and impaired neuronal development in the dentate gyrus (DG. The behavioral abnormalities include a severe working memory deficit and an exaggerated infradian rhythm, which are similar to symptoms seen in schizophrenia, bipolar mood disorder and other psychiatric disorders. Transcriptome analysis of the hippocampus of these mutants revealed that the expression levels of more than 2000 genes were significantly changed. Strikingly, among the 20 most downregulated genes, 5 had highly selective expression in the DG. Whereas BrdU incorporated cells in the mutant mouse DG was increased by more than 50 percent, the number of mature neurons in the DG was dramatically decreased. Morphological and physiological features of the DG neurons in the mutants were strikingly similar to those of immature DG neurons in normal rodents. Moreover, c-Fos expression in the DG after electric footshock was almost completely and selectively abolished in the mutants. Statistical clustering of human post-mortem brains using 10 genes differentially-expressed in the mutant mice were used to classify individuals into two clusters, one of which contained 16 of 18 schizophrenic patients. Nearly half of the differentially-expressed probes in the schizophrenia-enriched cluster encoded genes that are involved in neurogenesis or in neuronal migration/maturation, including calbindin, a marker for mature DG neurons. Based on these results, we propose that an "immature DG" in adulthood might induce alterations in behavior and
Sanna-Cherchi, Simone; Kiryluk, Krzysztof; Burgess, Katelyn E.; Bodria, Monica; Sampson, Matthew G.; Hadley, Dexter; Nees, Shannon N.; Verbitsky, Miguel; Perry, Brittany J.; Sterken, Roel; Lozanovski, Vladimir J.; Materna-Kiryluk, Anna; Barlassina, Cristina; Kini, Akshata; Corbani, Valentina
We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10−11). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) ...
, in children who have suffered perinatal adverse events. Evidence is presented to demonstrate that the composition of metabolites in the striatum is altered, primarily in the form of an elevated level of lactate, in human neonates who have suffered various perinatal disorders, such as germinal matrix...... hemorrhage, intrauterine growth retardation, and asphyxia. An elevated level of lactate suggests tissue hypoxia, which may interfere with the formation of frontostriatal circuits and may play a role in the pathogenesis of the behavioral disturbances observed in a proportion of children with a history...... of perinatal adverse events...
Bo, Tao; Shao, Shanshan; Wu, Dongming; Niu, Shaona; Zhao, Jiajun; Gao, Ling
Recent studies performed provide mechanistic insight into effects of the microbiota on cholesterol metabolism, but less focus was given to how cholesterol impacts the gut microbiota. In this study, ApoE -/- Sprague Dawley (SD) rats and their wild-type counterparts (n = 12) were, respectively, allocated for two dietary condition groups (normal chow and high-cholesterol diet). Total 16S rDNA of fecal samples were extracted and sequenced by high-throughput sequencing to determine differences in microbiome composition. Data were collected and performed diversity analysis and phylogenetic analysis. The influence of cholesterol on gut microbiota was discussed by using cholesterol dietary treatment as exogenous cholesterol disorder factor and genetic modification as endogenous metabolic disorder factor. Relative microbial variations were compared to illustrate the causality and correlation of cholesterol and gut microbiota. It turned out comparing to genetically modified rats, exogenous cholesterol intake may play more effective role in changing gut microbiota profile, although the serum cholesterol level of genetically modified rats was even higher. Relative abundance of some representative species showed that the discrepancies due to dietary variation were more obvious, whereas some low abundance species changed because of genetic disorders. Our results partially demonstrated that gut microbiota are relatively more sensitive to dietary variation. Nevertheless, considering the important effect of bacteria in cholesterol metabolism, the influence to gut flora by "genetically caused cholesterol disorder" cannot be overlooked. Manipulation of gut microbiota might be an effective target for preventing cholesterol-related metabolic disorders. © 2017 The Authors. MicrobiologyOpen published by John Wiley & Sons Ltd.
Preuss, U W; Siafarikas, N; Petrucci, M; Wong, W M
Both depression and dementia occur by themselves or together in elderly subjects aged 65 and above. The aim of this review is to discuss several hypotheses which try to explain the frequent co-occurrence exceeding chance alone, based on a systematic literature search. A series of studies revealed potential biological similarities between both disorders which, however, were not found in all investigations. Lifetime history of depression can be considered as a distant risk factor for dementias. Depression occurs most frequently within one year before and after the onset of dementia, in which the association between both disorders is probably strongest. In a subgroup of subjects with more "cognitive reserve", depression was found to be a consequence of patient's realisation of beginning cognitive deficits. Several studies indicate that depression in Alzheimer and other dementia forms can be considered as a separate disease entity, as the clinical syndrome differs from depression in earlier periods of life. Studies on the therapy of depression in dementia have aroused increasing interest in recent years. Herewith, certain guidelines in the treatment of older patients with antidepressants must be followed.
Kreiner, Barbara; Sulyok, Christoph; Rothenhäusler, Hans-Bernd
Previous research has documented that a variety of anxiety, depressive, and psychosomatic symptoms are present in a substantial portion of mobbing victims. This study aimed to explore the frequency of posttraumatic stress disorder (PTSD) among mobbing victims, and to investigate how PTSD was linked to pertinent psychometric scales. We recruited 20 mobbing victims and conducted the Structural Clinical Interview (SCID) to assess PTSD according to DSM-IV criteria. The trauma criterion was homogeneously defined as mobbing. 55% of our entire sample had a current PTSD, and 70% suffered from severe posttraumatic stress symptoms according to the Impact of Event Scale. Using multivariate analysis of variance (MANOVA), we found that mobbing victims with a current PTSD tended to demonstrate higher levels of stress and depressive symptoms, and less quality of life (SF 36 Short-Form Health Survey), especially in terms of bodily pain, compared with those without a PTSD diagnosis. No significant differences in personality factors (Freiburg Personality Inventory) between mobbing-victims with and without PTSD were evident by multivariate analysis. Univariate statistics, however, revealed that mobbing-related PTSD showed a trend towards higher scores in social orientation and somatic complaints. There was no general evidence that mobbing victims with a PTSD used more often negative and positive coping strategies (SVF - Stress Coping Questionnaire). However, they showed a tendency to employ control strategies, avoidance, social withdrawal, and cognitive preoccupation. Posttraumatic stress disorder subsequent to mobbing can occur frequently. PTSD therefore should be specifically considered in routine care.
Sun Changjin; Zhou Xiangping; Song Bin; Chen Xian; Liu Rongbo; Yan Zhihan; Xiong Yan
Objective: To determine the value of conventional T 1 - and T 2 -weighted images and gadolinium-enhanced magnetic resonance (MR) images as a supplement to MR cholangiopancreatography (MRCP) in differentiation of benign from malignant causes of postoperative disorders in the biliary ductal system. Methods: Sixty-one patients with postoperative disorders in the biliary ductal system with proved causes underwent MRCP, conventional T 1 - and less heavily T 2 -weighted images, as well as gadolinium-enhanced images. Two radiologists independently reviewed MRCP images alone, MRCP plus nonenhanced T 1 - and T 2 -weighted images, and MRCP plus nonenhanced and gadolinium-enhanced images. The results of MR findings were compared with that of the surgical findings and the pathology. Results: For the diagnosis of postoperative disorders only with MRCP images, the sensitivity, specificity, and accuracy was 42.1%, 80.9% and 68.9% for radiologist 1 and 47.4%, 85.7%, and 73.8% for radiologist 2, respectively. When MRCP images were interpreted with T 1 - and T 2 -weighted images, the sensitivity, specificity, and accuracy was 78.9%, 92.9% and 88.5% for radiologist 1 and, 78.9%, 95.2%, and 90.2% for radiologist 2, respectively. When MRCP images were combined with both nonenhanced T 1 - and T 2 -weighted images and enhanced MR images, the sensitivity, specificity, and accuracy was 84.2%, 95.2% and 91.8% for radiologist 1 and 84.2%, 97.6%, and 93.4% for radiologist 2, respectively. There was no significant difference between the 2 readers (P>0.05). For differentiation of benign from malignant causes of postoperative disorders, the area under the receiver operating characteristic curve (Az) was significantly larger for MRCP images interpreted with T 1 - and T 2 weighted images (0.907 for reader 1, 0.920 for reader 2) than for MRCP images alone (0.682 reader 1, 0.714 for reader 2) (P 1 - and T 2 -weighted images did not significantly increase the accuracy (Az = 0.948 for reader 1, 0
Kiadaliri, Aliasghar A; Turkiewicz, Aleksandra; Englund, Martin
To assess mortality related to musculoskeletal (MSK) disorders and rheumatoid arthritis (RA), specifically, among adults (aged ≥ 20 yrs) in southern Sweden using the multiple-cause-of-death approach. All death certificates (DC; n = 201,488) from 1998 to 2014 for adults in the region of Skåne were analyzed when mortality from MSK disorders and RA was listed as the underlying and nonunderlying cause of death (UCD/NUCD). Trends in age-standardized mortality rates (ASMR) were evaluated using joinpoint regression, and associated causes were identified by age- and sex-adjusted observed/expected ratios. MSK (RA) was mentioned on 2.8% (0.8%) of all DC and selected as UCD in 0.6% (0.2%), with higher values among women. Proportion of MSK disorder deaths from all deaths increased from 2.7% in 1998 to 3.1% in 2014, and declined from 0.9% to 0.5% for RA. The mean age at death was higher in DC with mention of MSK/RA than in DC without. The mean ASMR for MSK (RA) was 15.5 (4.3) per 100,000 person-years and declined by 1.1% (3.8%) per year during 1998-2014. When MSK/RA were UCD, pneumonia and heart failure were the main NUCD. When MSK/RA were NUCD, the leading UCD were ischemic heart disease and neoplasms. The greatest observed/expected ratios were seen for infectious diseases (including sepsis) and blood diseases. We observed significant reduction in MSK and RA mortality rates and increase in the mean age at death. Further analyses are required to investigate determinants of these improvements in MSK/RA survival and their potential effect on the Swedish healthcare systems.
Segarra, Nuria Garcia; Ballhausen, Diana; Crawford, Heather; Perreau, Matthieu; Campos-Xavier, Belinda; van Spaendonck-Zwarts, Karin; Vermeer, Cees; Russo, Michel; Zambelli, Pierre-Yves; Stevenson, Brian; Royer-Bertrand, Beryl; Rivolta, Carlo; Candotti, Fabio; Unger, Sheila; Munier, Francis L.; Superti-Furga, Andrea; Bonafé, Luisa
We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene. Both presented as infants with recurrent episodes triggered by fever with vomiting,
Won, Hyejung; Mah, Won; Kim, Eunjoon
Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by impairments in social interaction and communication and restricted and repetitive interests/behaviors. Advances in human genomics have identified a large number of genetic variations associated with ASD. These associations are being rapidly verified by a growing number of studies using a variety of approaches, including mouse genetics. These studies have also identified key mechanisms underlying the pathogenesis of ASD, many of which involve synaptic dysfunctions, and have investigated novel, mechanism-based therapeutic strategies. This review will try to integrate these three key aspects of ASD research: human genetics, animal models, and potential treatments. Continued efforts in this direction should ultimately reveal core mechanisms that account for a larger fraction of ASD cases and identify neural mechanisms associated with specific ASD symptoms, providing important clues to efficient ASD treatment.
Full Text Available Autism spectrum disorder (ASD is a group of developmental disabilities characterized by impairments in social interaction and communication and restricted and repetitive inter-ests/behaviors. Advances in human genomics have identified a large number of genetic varia-tions associated with ASD. These associations are being rapidly verified by a growing number of studies using a variety of approaches, including mouse genetics. These studies have also identified key mechanisms underlying the pathogenesis of ASD, many of which involve synaptic dysfunctions, and have investigated novel, mechanism-based therapeutic strategies. This review will try to integrate these three key aspects of ASD research: human genetics, animal models, and potential treatments. Continued efforts in this direction should ultimately reveal core mechanisms that account for a larger fraction of ASD cases and identify neural mechanisms associated with specific ASD symptoms, providing important clues to efficient ASD treatment.
Polednak, Anthony P
Temporal trends in mortality from bipolar disorder (BD) or depression in the US population, based on multiple causes (MC) rather than underlying cause (UC) alone on death certificates, apparently have not been examined. The annual US age-standardized rate (ASR) for deaths per 100,000 US residents age 15+ years, and age-specific rates, for BD or depression using MC versus UC alone was examined for 1999-2009; percentage change (PC) from 1999 to 2009 was calculated. The ASRs at age 15+ years were much higher using MC than UC alone. For BD using MC, the ASR increased from 1999 to 2009 (PC +69.2 %) with larger increases in age groups within 15-64 years (PCs about 200 %). For depression using MC, the ASR rose from 1999 to 2003 and then declined, but the decline was restricted to age 65+ years; the ASR at age 15-64 years increased from 1999 to 2009 (PC +55.5 %). For deaths at age 15-64 years with BD or depression as other than UC, the ASRs increased for external causes, cardiovascular diseases, external causes, and neoplasms as UC. The large increases in mortality from BD using MC are consistent with reported increases in BD prevalence rates in the US population. The temporal increases in death rates related to mood disorders at age 15-64 years may provide further support for the need for interventions to address the mediators of excess mortality identified from cohort studies.
Jansen, Jos C; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Pérez, Belén; Vicogne, Dorothée; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Pérez-Cerdá, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A W; Holleboom, Adriaan G; Nassogne, Marie-Cécile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P H; Huynen, Martijn A; Veltman, Joris A; Wevers, Ron A; Morava, Eva; Matthijs, Gert; Foulquier, François; Marquardt, Thorsten; Lefeber, Dirk J
Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly heterogeneous clinical spectrum is not explained by our current understanding of the underlying cell-biological processes in the Golgi. Therefore, uncovering genetic defects and annotating gene function are challenging. Exome sequencing in a family with three siblings affected by abnormal Golgi glycosylation revealed a homozygous missense mutation, c.92T>C (p.Leu31Ser), in coiled-coil domain containing 115 (CCDC115), the function of which is unknown. The same mutation was identified in three unrelated families, and in one family it was compound heterozygous in combination with a heterozygous deletion of CCDC115. An additional homozygous missense mutation, c.31G>T (p.Asp11Tyr), was found in a family with two affected siblings. All individuals displayed a storage-disease-like phenotype involving hepatosplenomegaly, which regressed with age, highly elevated bone-derived alkaline phosphatase, elevated aminotransferases, and elevated cholesterol, in combination with abnormal copper metabolism and neurological symptoms. Two individuals died of liver failure, and one individual was successfully treated by liver transplantation. Abnormal N- and mucin type O-glycosylation was found on serum proteins, and reduced metabolic labeling of sialic acids was found in fibroblasts, which was restored after complementation with wild-type CCDC115. PSI-BLAST homology detection revealed reciprocal homology with Vma22p, the yeast V-ATPase assembly factor located in the endoplasmic reticulum (ER). Human CCDC115 mainly localized to the ERGIC and to COPI vesicles, but not to the ER. These data, in combination with the phenotypic spectrum, which is distinct from that associated with defects in V-ATPase core subunits, suggest a more general role for CCDC115 in Golgi trafficking. Our study reveals CCDC115 deficiency as a disorder of Golgi homeostasis that can be readily identified via screening for abnormal
Schomerus, Georg; Matschinger, Herbert; Angermeyer, Matthias C
We aim to elicit how far the public has incorporated Freudian theory in its understanding of mental illness in different countries, focussing on the unconscious conflict as a possible cause of mental disorders. We conducted representative population surveys with identical sampling procedures and face-to-face interviews in Germany (1990, n = 3,078; 2001, n = 5,025), Novosibirsk (Russia, 2002, n = 745), and Bratislava (Slovakia, 2003, n = 1,000) and a representative telephone survey in Germany in 2006. Two thirds of respondents in Germany endorsed an unconscious conflict as a cause of mental disorder. Endorsement was stronger for depression than for schizophrenia, increased with duration of schooling, and was less prevalent in Bratislava and Novosibirsk and in East compared to West Germany. Endorsement in Germany increased between 1990 and 2001. However, only 5% of respondents could offer a definition of unconscious conflict that resembled Freud's initial theory. The observed West-East gradient is likely to mirror the past political undesirability of psychoanalysis in former communist countries. The popularity of psychoanalytical concepts seems to lag behind their actually declining influence within psychiatry in Germany. Public conception of unconscious conflict however hardly resembles Freud's original ideas. Although psychoanalytical concepts warrant consideration when exploring patients' causal beliefs about mental illness, psychiatrists should focus on the subjective meaning of seemingly psychoanalytic phrases.
Taoka, Toshiaki; Iwasaki, Satoru; Okamoto, Shingo; Sakamoto, Masahiko; Nakagawa, Hiroyuki; Otake, Shoichiro; Fujioka, Masayuki; Hirohashi, Shinji; Kichikawa, Kimihiko
The purpose of this study was to evaluate the relationship between pituitary stalk compression by the dorsum sellae and clinical or laboratory findings in short stature children. We retrospectively reviewed magnetic resonance images of the pituitary gland and pituitary stalk for 34 short stature children with growth hormone (GH) deficiency and 24 age-matched control cases. We evaluated the degree of pituitary stalk compression caused by the dorsum sellae. Body height, GH level, pituitary height and onset age of the short stature were statistically compared between cases of pituitary stalk compression with associated stalk deformity and cases without compression. Compression of the pituitary stalk with associated stalk deformity was seen in nine cases within the short stature group. There were no cases observed in the control group. There were no significant differences found for body height, GH level and pituitary height between the cases of pituitary stalk compression with associated stalk deformity and cases without compression. However, a significant difference was seen in the onset age between cases with and without stalk compression. Pituitary stalk compression with stalk deformity caused by the dorsum sellae was significantly correlated with late childhood onset of short stature.
Ishtiak-Ahmed, Kazi; Perski, Aleksander; Mittendorfer-Rutz, Ellenor
BACKGROUND: Stress-related mental disorders rank among the leading causes of sickness absence in several European countries. The aim of this study was to investigate predictors of all-cause and diagnosis-specific disability pension in sickness absentees with stress-related mental disorders. METHO....... The variation in the effect of risk markers with regard to age and diagnosis of disability pension speaks in favour of the importance of a person-centered approach in treatment and rehabilitation....
Hakim Shoushtari, Mitra; Ghalebandi, Mirfarhad; Tavasoli, Azita; Pourshams, Maryam
Objective Kleine-Levin syndrome (KLS) is a rare disorder with an unknown etiology. Autism spectrum disorder is characterized by various degrees of impairment in social communication, repetitive behavior and restricted interests. Only four patients of KLS with autistic spectrum disorder (ASD) have been reported so far. This report presents an 8-year-old girl with history of autistic disorder and epilepsy that superimposed KLS. Because of the rarity of KLS and related studies did not address whether autism accounts for a primary or secondary cause, the area required attention further studies.
This study aims to evaluate the toxic effects of Fusarium oxysporum on root parasitic weed, Orobanche spp. Comparative genetic and gene expression studies were conducted on uninfected and fungus-infected orobanches. In genetic studies, isolated total DNA was amplified by RAPD PCR. Fragment properties were analysed by GTS test. According to the results, the fragment properties of control and Fusarium infected (experimental) groups varied widely; and it has been observed that Fusarium has genotoxic effects on the DNA of orobanches. In gene expression studies, the expression levels of genes encoding enzymes or proteins were associated with ROS damage and toxic effects, therefore, gene expressions of Mn-superoxide dismutase (SOD), Zn-superoxide dismutase (=SOD2, mitochondrial), glutamine synthetase (GS), heat shock protein gene (HSP70), BAX, Caspase-3 and BCL2 were significantly higher in the experimental group. In the light of obtained data, it was concluded that F. oxysporum (1) caused heavy ROS damage in Orobanche (2) induced significant irrevocable genotoxic effects on the DNA of Orobanche, (3) degraded protein metabolism and synthesis, and finally (4) triggered apoptosis. The results of this study can be a ground for further research on reducing the toxic effects of Fusarium on agricultural products, so that advancements in bio-herbicide technology may provide a sustainable agricultural production. Copyright © 2017 Elsevier GmbH. All rights reserved.
Full Text Available The objective of this study was to assess the efficacy and safety of electroacupuncture in 138 patients with earthquake-caused PTSD using Randomized Controlled Trials (RCTs. 138 cases enrolled were randomly assigned to an electro-acupuncture group and a paroxetine group. The electro-acupuncture group was treated by scalp electro-acupuncture on Baihui (GV 20, Sishencong (EX-HN 1, Shenting (GV 24, and Fengchi (GB 20, and the paroxetine group was treated with simple oral administration of paroxetine. The efficacy and safety of the electro-acupuncture on treatment of 69 PTSD patients were evaluated using Clinician-Administered PTSD Scale (CAPS, Hamilton Depression Scale (HAMD, Hamilton Anxiety Scale (HAMA, and Treatment Emergent Symptom Scale (TESS according to clinical data. The total scores of CAPS, HAMD, and HAMA in the two groups after treatment showed significant efficacy compared to those before treatment. The comparison of reduction in the scores of CAPS, HAMD, and HAMA between the two groups suggested that the efficacy in the treated group was better than that in the paroxetine group. The present study suggested that the electro-acupuncture and paroxetine groups have significant changes in test PTSD, but the electro-acupuncture 2 group was more significant.
Full Text Available BACKGROUND: Excess mortality among patients with severe mental disorders has not previously been investigated in detail in large complete national populations. OBJECTIVE: To investigate the excess mortality in different diagnostic categories due to suicide and other external causes of death, and due to specific causes in connection with diseases and medical conditions. METHODS: In longitudinal national psychiatric case registers from Denmark, Finland, and Sweden, a cohort of 270,770 recent-onset patients, who at least once during the period 2000 to 2006 were admitted due to a psychiatric disorder, were followed until death or the end of 2006. They were followed for 912,279 person years, and 28,088 deaths were analyzed. Life expectancy and standardized cause-specific mortality rates were estimated in each diagnostic group in all three countries. RESULTS: The life expectancy was generally approximately 15 years shorter for women and 20 years shorter for men, compared to the general population. Mortality due to diseases and medical conditions was increased two- to three-fold, while excess mortality from external causes ranged from three- to 77-fold. Mortality due to diseases and medical conditions was generally lowest in patients with affective disorders and highest in patients with substance abuse and personality disorders, while mortality due to suicide was highest in patients with affective disorders and personality disorders, and mortality due to other external causes was highest in patients with substance abuse. CONCLUSIONS: These alarming figures call for action in order to prevent the high mortality.
Kimura, Yoshihide; Kamiya, Takeshi; Senoo, Kyouji; Tsuchida, Kenji; Hirano, Atsuyuki; Kojima, Hisayo; Yamashita, Hiroaki; Yamakawa, Yoshihiro; Nishigaki, Nobuhiro; Ozeki, Tomonori; Endo, Masatsugu; Nakanishi, Kazuhisa; Sando, Motoki; Inagaki, Yusuke; Shikano, Michiko; Mizoshita, Tsutomu; Kubota, Eiji; Tanida, Satoshi; Kataoka, Hiromi; Katsumi, Kohei; Joh, Takashi
Some patients with gastroesophageal reflux disease experience persistent reflux symptoms despite proton pump inhibitor therapy. These symptoms reduce their health-related quality of life. Our aims were to evaluate the relationship between proton pump inhibitor efficacy and health-related quality of life and to evaluate predictive factors affecting treatment response in Japanese patients. Using the gastroesophageal reflux disease questionnaire, 145 gastroesophageal reflux disease patients undergoing proton pump inhibitor therapy were evaluated and classified as responders or partial-responders. Their health-related quality of life was then evaluated using the 8-item Short Form Health Survey, the Pittsburgh Sleep Quality Index, and the Hospital Anxiety and Depression Scale questionnaires. Sixty-nine patients (47.6%) were partial responders. These patients had significantly lower scores than responders in 5/8 subscales and in the mental health component summary of the 8-item Short Form Health Survey. Partial responders had significantly higher Pittsburgh Sleep Quality Index and Hospital Anxiety and Depression Scale scores, including anxiety and depression scores, than those of responders. Non-erosive reflux disease and double proton pump inhibitor doses were predictive factors of partial responders. Persistent reflux symptoms, despite proton pump inhibitor therapy, caused mental health disorders, sleep disorders, and psychological distress in Japanese gastroesophageal reflux disease patients.
Hagebeuk, Eveline E O; van den Bossche, Renilde A S; de Weerd, Al W
In female children with drug-resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the CDKL5 gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present in Rett syndrome, whereas little is known in patients with CDKL5 mutations. In four genetically confirmed female patients with CDKL5 mutations (age range 2-15 y), the presence of breathing and sleep abnormalities was evaluated using the validated Sleep Disturbance Scale for Children and polysomnography (PSG). The Sleep Disturbance Scale for Children indicated disorders of initiating and maintaining sleep, daytime somnolence, and sleep breathing disorders. In one patient, PSG showed central apnoeas during sleep: her total apnoea-hypopnoea index (AHI) was 4.9, of which the central AHI was 3.4/h. When awake, central apnoeas were present in two of the four female children (central AHI 28/h and 41/h respectively), all preceded by hyperventilation. PSG showed low rapid eye movement (REM) sleep (9.7-18.3%), frequent awakenings, and low sleep efficiency (range 59-78%). Episodic hyperventilation followed by central apnoeas was present while awake in two of four patients. This may indicate failure of brainstem respiratory centres. In addition, low REM sleep, frequent arousals (not caused by apnoeas/seizures), and low sleep efficiency were present. Similar to Rett syndrome, in patients with CDKL5 mutations PSG seems warranted to evaluate breathing and sleep disturbances. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.
Zuckerman, Katharine E.; Lindly, Olivia J.; Sinche, Brianna
This study aimed to assess variation in parent beliefs about causes of learning and developmental problems in U.S. children with autism spectrum disorder, using data from a nationally representative survey. Results showed that beliefs about a genetic/hereditary cause of learning/developmental problems were most common, but nearly as many parents…
Cali E Willet
Full Text Available Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant. Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.
Willet, Cali E; Makara, Mariano; Reppas, George; Tsoukalas, George; Malik, Richard; Haase, Bianca; Wade, Claire M
Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant). Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.
Kermode, Michelle; Bowen, Kathryn; Arole, Shoba; Joag, Kaustubh; Jorm, Anthony F
Explanations for mental disorders in India can be influenced by biomedicine, systems of traditional medicine and supernatural beliefs. Community beliefs about causes of mental distress influence help-seeking behaviours. This study aimed to assess local knowledge and understanding of causes and risks for mental disorders in a rural area of Maharashtra, and to assess the prevalence of possible common mental disorders. A cross-sectional mental health literacy survey was undertaken in late 2007. A questionnaire was administered to 240 systematically sampled community members and 60 village health workers (VHWs). Participants were presented with two vignettes describing people experiencing symptoms of mental disorders (depression, psychosis); they were asked about the causes of the problems and the vulnerabilities of community sub-groups. Additionally, the General Health Questionnaire (GHQ12) was administered to assess prevalence of possible common mental disorders. The most commonly acknowledged causes of the problems were a range of socioeconomic factors. Supernatural and biological explanations were not widely endorsed. Women, the unemployed and the poor were judged as more likely to develop mental disorders, while both young and older people were perceived to be less vulnerable. Results of the GHQ12 indicated that 27% had a possible common mental disorder and that the elderly were at increased risk, contrary to community perceptions. Enhancing mental health literacy of both VHWs and community members using approaches that are sensitive to local conceptualizations of mental health and illness will contribute to improved treatment and care for people with mental disorders. Further investigation of mental health among the elderly in this community is indicated.
Chavushyan, V A; Simonyan, K V; Simonyan, R M; Isoyan, A S; Simonyan, G M; Babakhanyan, M A; Hovhannisyian, L E; Nahapetyan, Kh H; Avetisyan, L G; Simonyan, M A
Excess dietary fructose intake associated with metabolic syndrome and insulin resistance and increased risk of developing type 2 diabetes. Previous animal studies have reported that diabetic animals have significantly impaired behavioural and cognitive functions, pathological synaptic function and impaired expression of glutamate receptors. Correction of the antioxidant status of laboratory rodents largely prevents the development of fructose-induced plurimetabolic changes in the nervous system. We suggest a novel concept of efficiency of Stevia leaves for treatment of central diabetic neuropathy. By in vivo extracellular studies induced spike activity of hippocampal neurons during high frequency stimulation of entorhinal cortex, as well as neurons of basolateral amygdala to high-frequency stimulation of the hippocampus effects of Stevia rebaudiana Bertoni plant evaluated in synaptic activity in the brain of fructose-enriched diet rats. In the conditions of metabolic disorders caused by fructose, antioxidant activity of Stevia rebaudiana was assessed by measuring the NOX activity of the hippocampus, amygdala and spinal cord. In this study, the characteristic features of the metabolic effects of dietary fructose on synaptic plasticity in hippocampal neurons and basolateral amygdala and the state of the NADPH oxidase (NOX) oxidative system of these brain formations are revealed, as well as the prospects for development of multitarget and polyfunctional phytopreparations (with adaptogenic, antioxidant, antidiabetic, nootropic activity) from native raw material of Stevia rebaudiana. Stevia modulates degree of expressiveness of potentiation/depression (approaches but fails to achieve the norm) by shifting the percentage balance in favor of depressor type of responses during high-frequency stimulation, indicating its adaptogenic role in plasticity of neural networks. Under the action of fructose an increase (3-5 times) in specific quantity of total fraction of NOX
Kiadaliri, Aliasghar A; Woolf, Anthony D; Englund, Martin
Due to low mortality rate of musculoskeletal disorders (MSK) less attention has been paid to MSK as underlying cause of death in the general population. The aim was to examine trend in MSK as underlying cause of death in 58 countries across globe during 1986-2011. Data on mortality were collected from the WHO mortality database and population data were obtained from the United Nations. Annual sex-specific age-standardized mortality rates (ASMR) were calculated by means of direct standardization using the WHO world standard population. We applied joinpoint regression analysis for trend analysis. Between-country disparities were examined using between-country variance and Gini coefficient. The changes in number of MSK deaths between 1986 and 2011 were decomposed using two counterfactual scenarios. The number of MSK deaths increased by 67% between 1986 and 2011 mainly due to population aging. The mean ASMR changed from 17.2 and 26.6 per million in 1986 to 18.1 and 25.1 in 2011 among men and women, respectively (median: 7.3% increase in men and 9.0% reduction in women). Declines in ASMR of 25% or more were observed for men (women) in 13 (19) countries, while corresponding increases were seen for men (women) in 25 (14) countries. In both sexes, ASMR declined during 1986-1997, then increased during 1997-2001 and again declined over 2001-2011. Despite decline over time, there were substantial between-country disparities in MSK mortality and its temporal trend. We found substantial variations in MSK mortality and its trends between countries, regions and also between sex and age groups. Promoted awareness and better management of MSK might partly explain reduction in MSK mortality, but variations across countries warrant further investigations.
Full Text Available Background: Because the pathogenesis of high altitude polycythemia (HAPC is unclear, the aim of the present study was to explore whether abnormal iron metabolism is involved in the pathogenesis of HAPC and the possible cause.Methods: We examined the serum levels of iron, total iron binding capacity, soluble transferrin receptor (sTfR, ferritin, and hepcidin as well as erythropoietin (EPO and inflammation-related cytokines in 20 healthy volunteers at sea level, 36 healthy high-altitude migrants, and 33 patients with HAPC. Mice that were exposed to a simulated hypoxic environment at an altitude of 5,000 m for 4 weeks received exogenous iron or intervention on cytokines, and the iron-related and hematological indices of peripheral blood and bone marrow were detected. The in vitro effects of some cytokines on hematopoietic cells were also observed.Results: Iron mobilization and utilization were enhanced in people who had lived at high altitudes for a long time. Notably, both the iron storage in ferritin and the available iron in the blood were elevated in patients with HAPC compared with the healthy high-altitude migrants. The correlation analysis indicated that the decreased hepcidin may have contributed to enhanced iron availability in HAPC, and decreased interleukin (IL-10 and IL-22 were significantly associated with decreased hepcidin. The results of the animal experiments confirmed that a certain degree of iron redundancy may promote bone marrow erythropoiesis and peripheral red blood cell production in hypoxic mice and that decreased IL-10 and IL-22 stimulated iron mobilization during hypoxia by affecting hepcidin expression.Conclusion: These data demonstrated, for the first time, that an excess of obtainable iron caused by disordered IL-10 and IL-22 was involved in the pathogenesis of some HAPC patients. The potential benefits of iron removal and immunoregulation for the prevention and treatment of HAPC deserve further research.
Anjos, Alessandra Marques dos; Nunes, Magda Lahorgue
To determine the prevalence and describe clinical characteristics of seizure disorders and epilepsy as causes of apparent life- threatening event (ALTE) in children admitted at the emergency and followed in a tertiary hospital. Cross-sectional study with prospective data collection using specific guidelines to determine the etiology of ALTE. During the study, 30 (4.2%) children admitted to the hospital had a diagnosis of ALTE. There was a predominance of males (73%) and term infants (70%). Neonatal neurological disorders and neuropsychomotor development delay were found respectively in 13.4% and 10% of the cases. Etiological investigation revealed that 50% of the cases were idiopathic, and 13.4% were caused by epilepsy or seizure disorders. Although all patients had recurrent ALTE events, epilepsy had not been previously suspected. Epilepsy should be included in the differential diagnosis of ALTE, particularly when events are recurrent.
Scigała, Dawid Konrad; Ziołek, Jakub; Kwiatkowski, Krzysztof
Poland is a country in which every year there is a lot of motor vehicle accidents, number of victims is one of the highest in European union. Helping patients after motor vehicle accidents should base on cooperation of doctors and psychologists because holistic approach to patient enables rapid and effective rehabilitation. To show connection between physical damage cause in motor vehicle accident with mental trauma, which increase on process of full recovery. There were 31 victims who were involved in motor vehicle accidents not more than one month ago. In the second group there were people who was never involved in motor vehicle accident. The procedure consisted on filling demographic questionnaire, state traite anxety inventory and aqute stress disorder questionnare. In the second part of the research was to accomplish the emotional Stroop task, which based on selecting the name of the color of a word, which was on the screen. There were two types of the words: negative related to motor vehicle accident and neutral. Participants from the research group had higher level of anxiety than participants from control group and they had significantly longer reaction time in particular on words associated to accident, which could be the signal of problems with cognitive processes because of the anxiety. Furthermore participants with head injuries and upper limbs (whitout dominant limb) have had longer reaction times in Stroop test than participants with leg injuries, it indicating on higher level of anxiety and feeling of insecurity. It should be noted that looking on a character an range of a injuries, role that participant attend in accident (victims have more emotional disturbance), because it could determinate rate of recovery and the way communication with the patient.
Magaard, Julia Luise; Schulz, Holger; Brütt, Anna Levke
Patients' causal beliefs about their mental disorders are important for treatment because they affect illness-related behaviours. However, there are few studies exploring patients' causal beliefs about their mental disorder. (a) To qualitatively explore patients' causal beliefs of their mental disorder, (b) to explore frequencies of patients stating causal beliefs, and (c) to investigate differences of causal beliefs according to patients' primary diagnoses. Inpatients in psychosomatic rehabilitation were asked an open-ended question about their three most important causal beliefs about their mental illness. Answers were obtained from 678 patients, with primary diagnoses of depression (N = 341), adjustment disorder (N = 75), reaction to severe stress (N = 57) and anxiety disorders (N = 40). Two researchers developed a category system inductively and categorised the reported causal beliefs. Qualitative analysis has been supplemented by logistic regression analyses. The causal beliefs were organized into twelve content-related categories. Causal beliefs referring to "problems at work" (47%) and "problems in social environment" (46%) were most frequently mentioned by patients with mental disorders. 35% of patients indicate causal beliefs related to "self/internal states". Patients with depression and patients with anxiety disorders stated similar causal beliefs, whereas patients with reactions to severe stress and adjustment disorders stated different causal beliefs in comparison to patients with depression. There was no opportunity for further exploration, because we analysed written documents. These results add a detailed insight to mentally ill patients' causal beliefs to illness perception literature. Additionally, evidence about differences in frequencies of causal beliefs between different illness groups complement previous findings. For future research it is important to clarify the relation between patients' causal beliefs and the chosen treatment.
Julia Luise Magaard
Full Text Available Patients' causal beliefs about their mental disorders are important for treatment because they affect illness-related behaviours. However, there are few studies exploring patients' causal beliefs about their mental disorder.(a To qualitatively explore patients' causal beliefs of their mental disorder, (b to explore frequencies of patients stating causal beliefs, and (c to investigate differences of causal beliefs according to patients' primary diagnoses.Inpatients in psychosomatic rehabilitation were asked an open-ended question about their three most important causal beliefs about their mental illness. Answers were obtained from 678 patients, with primary diagnoses of depression (N = 341, adjustment disorder (N = 75, reaction to severe stress (N = 57 and anxiety disorders (N = 40. Two researchers developed a category system inductively and categorised the reported causal beliefs. Qualitative analysis has been supplemented by logistic regression analyses.The causal beliefs were organized into twelve content-related categories. Causal beliefs referring to "problems at work" (47% and "problems in social environment" (46% were most frequently mentioned by patients with mental disorders. 35% of patients indicate causal beliefs related to "self/internal states". Patients with depression and patients with anxiety disorders stated similar causal beliefs, whereas patients with reactions to severe stress and adjustment disorders stated different causal beliefs in comparison to patients with depression.There was no opportunity for further exploration, because we analysed written documents.These results add a detailed insight to mentally ill patients' causal beliefs to illness perception literature. Additionally, evidence about differences in frequencies of causal beliefs between different illness groups complement previous findings. For future research it is important to clarify the relation between patients' causal beliefs and the chosen treatment.
Full Text Available Abstract Background Higher mortality has been found for people with serious mental illness (SMI, including schizophrenia, schizoaffective disorders, and bipolar affective disorder at all age groups. Our aim was to characterize vulnerable groups for excess mortality among people with SMI, substance use disorders, depressive episode, and recurrent depressive disorder. Methods A case register was developed at the South London and Maudsley National Health Services Foundation Trust (NHS SLAM, accessing full electronic clinical records on over 150,000 mental health service users as a well-defined cohort since 2006. The Case Register Interactive Search (CRIS system enabled searching and retrieval of anonymised information since 2008. Deaths were identified by regular national tracing returns after 2006. Standardized mortality ratios (SMRs were calculated for the period 2007 to 2009 using SLAM records for this period and the expected number of deaths from age-specific mortality statistics for the England and Wales population in 2008. Data were stratified by gender, ethnicity, and specific mental disorders. Results A total of 31,719 cases, aged 15 years old or more, active between 2007-2009 and with mental disorders of interest prior to 2009 were detected in the SLAM case register. SMRs were 2.15 (95% CI: 1.95-2.36 for all SMI with genders combined, 1.89 (1.64-2.17 for women and 2.47 (2.17-2.80 for men. In addition, highest mortality risk was found for substance use disorders (SMR = 4.17; 95% CI: 3.75-4.64. Age- and gender-standardised mortality ratios by ethnic group revealed huge fluctuations, and SMRs for all disorders diminished in strength with age. The main limitation was the setting of secondary mental health care provider in SLAM. Conclusions Substantially higher mortality persists in people with serious mental illness, substance use disorders and depressive disorders. Furthermore, mortality risk differs substantially with age, diagnosis, gender
Graham, John M
Glucose transporter-1 (GLUT1) deficiency syndrome is caused by heterozygous mutations in the SLC2A1 gene, resulting in impaired glucose transport into the brain. It is characterized by a low glucose concentration in the cerebrospinal fluid (hypoglycorrhachia) in the absence of hypoglycemia, in combination with low to normal lactate in the cerebrospinal fluid (CSF). It often results in treatment-resistant infantile epilepsy with progressive developmental disabilities and a complex movement disorder. Recognizing GLUT1 deficiency syndrome is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the movement disorder. There can be a considerable delay in diagnosing GLUT1 deficiency syndrome, and this point is illustrated by the natural history of this disorder in a 21-year-old woman with severe, progressive neurological disabilities. Her encephalopathy consisted of treatment-resistant seizures, a complex movement disorder, progressive intellectual disability, and deceleration of her head growth after late infancy. Focused evaluation at age 21 revealed GLUT1 deficiency caused by a novel heterozygous missence mutation in exon 7 (c.938C > A; p.Ser313Try) in SLC2A1 as the cause for her disabilities. Copyright © 2011 Elsevier Masson SAS. All rights reserved.
To establish the differential criteria for Binge Eating Disorder (BED) and Food Addiction (FA). We performed a detailed analysis of comparative diagnostic criteria for BED and Substance use disorder contained in the Diagnostic and Statistical Manual of Mental Disorders DSM-V. We applied the diagnostic criteria for both disorders to scientific publications on the issue of excessive eating in obese people, during the years 2005-2016, available on PubMed. We isolated specific similarities and differences between Binge Eating Disorder and Food Addiction. We formulated differential criteria for BED and FA. In BED as well as FA the following characteristics are apparent: preoccupation with food, excessive eating, loss of control over the amount of food and manner of eating, inability to change behavior, continuing behavior despite negative consequences, increased impulsiveness and emotional imbalance. Differences between BED and FA relate to the function of food, reaction to omitted food, psychological mechanisms of coping with excessive eating and body image, the issue of tolerance, withdrawal syndrome and the correlation between excessive eating and other areas of life. The criteria of differentiation between BED and FA concern the following: function of food, eating circumstances, reaction to the unavailability of food, awareness of the problem. Appropriate diagnosis of these disorders and their differentiation increases the chances of adequate treatment of obese patients.
Tallapaka, Karthik; Venugopal, Vineeth; Dalal, Ashwin; Aggarwal, Shagun
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (MIM # 610644) is a clinically distinctive form of SRY-negative 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic loss of function mutations in RSPO1 gene. RSPO1 acts by activating the canonical β-catenin pathway and is one of the most important genes controlling female gonadal differentiation. RSPO1-associated disorders of sex development have been described only in three instances in the past. We report fourth such case with additional findings and perform a comparative review of previous phenotypic descriptions, thereby expanding the clinical phenotype of this syndrome. © 2018 Wiley Periodicals, Inc.
Dardennes, Roland M.; Al Anbar, Nebal N.; Prado-Netto, Arthur; Kaye, Kelley; Contejean, Yves; Al Anbar, Nesreen N.
Objectives: To explore the relationship between causal beliefs on autism (CBA) and treatment choices. Design and methods: A cross-sectional design was employed. Parents of a child with autism spectrum disorder (ASD) were asked to complete the Lay-Beliefs about Autism Questionnaire (LBA-Q) and answer questions about treatments used. Only items…
Ishtiak-Ahmed, Kazi; Perski, Aleksander; Mittendorfer-Rutz, Ellenor
Stress-related mental disorders rank among the leading causes of sickness absence in several European countries. The aim of this study was to investigate predictors of all-cause and diagnosis-specific disability pension in sickness absentees with stress-related mental disorders. A cohort of 36304 non-retired individuals aged 16-64 years at 31.12.2004 with at-least one sickness absence spell due to stress-related mental disorders (SRMD) initiated in 2005 in Sweden was followed-up with regard to disability pension (2006-2010) by linkage of registers. Uni- and multivariate Hazard ratios (HR) with 95% Confidence Intervals, CI, were estimated using Cox regression for several risk markers. During the follow-up period, 2735 individuals (7.5%) were granted a disability pension, predominantly due to mental diagnoses (n = 2004, 73.3%). In the multivariate analyses, female sex, age exceeding 35 years, low educational level, being born in a country outside EU25 and Northern Europe, residing outside big cities, living alone, having had a long duration of the first spell due to SRMD (>90 days); mental disorders necessitating frequent specialised health care as well as comorbid somatic disorders were found to be predictive of granting disability pension. Some different patterns emerged for risk factors related to diagnosis-specific disability pension and for younger and older individuals. Several predictors could be identified as risk markers for disability pension. The variation in the effect of risk markers with regard to age and diagnosis of disability pension speaks in favour of the importance of a person-centered approach in treatment and rehabilitation.
Matson, Johnny L.; Kozlowski, Alison M.; Worley, Julie A.; Shoemaker, Mary E.; Sipes, Megan; Horovitz, Max
An extensive literature on the causes of challenging behaviors has been developed, primarily in the applied behavior analysis literature. One hundred and seventy-three empirical studies were reviewed where functional assessment serves as the primary method of identifying these causes. Most of the studies were able to identify a clear function or…
Nicolay, K.; Kruijff, B. de; Smaal, E.B.
2 H NMR has been used to probe the effects of ethylene glycol at the level of the acyl chains in liposomes prepared from dioleoylphosphatidic acid or dioleoylphosphatidylcholine, labeled with 2 H at the 11-position of both oleic acid chains. Increasing concentrations of ethylene glycol lead to a proportional and substantial decrease in the quadrupolar splittings, measured from the 2 H NMR spectra of both liposomal system, indicative of acyl chain disordering. (Auth.)
Kuroda, Y; Kimura-Kuroda, J [Tokyo Metropol. Inst. for Neuroscience, Tokyo (Japan); Nagata, I [CREST/ JST, Tokyo (Japan)
Exposure to some environmental chemicals during the perinatal period causes developmental disorders of the brain. Cognitive impairment and hyperactivity in infants were reported in Taiwan, known as Yu-cheng incidents caused by the accidental contamination of polychlorinated biphenyls (PCBs). Together with recent experimental data, Kuroda proposes a hypothesis that spatio-temporal disruptions of developing neuronal circuits by PCB exposure can cause the comobidity of learning disorders (LD), attention deficit hyperactivity disorder (ADHD) and autsm with the co-exposure to other environmental chemicals. PCBs and hydroxylated PCBs (OH-PCBs) have similar chemical structures to thyroid hormones (TH), thyroxine (T4) and triiodothyronine (T3). TH deficiency in the perinatal period causes cretinism children with severe cognitive and mental retardation. In primate model, Rice demonstrates that postnatal exposure to PCBs can dramatically influence later behavioral function. Epidemiological studies also indicate the possible developmental neurotoxicity of PCBs accumulated in human bodies. However, the precise underlying mechanisms and which types of PCB or OH-PCB with such effects have yet to be elucidated. It is important to establish a simple, reproducible, and sensitive in vitro assay for determining the effects of PCBs and OH-PCBs on the development of the central nervous system. Recently Iwasaki et al. established a reporter assay system and disclosed that low doses of PCBs potentially interfere TH-dependent gene expressions. This is the first demonstration that PCBs and OH-PCBs directly affect TH-receptor (TR)-mediated gene expressions crucial to the brain development, through unique mechanism. We also have demonstrated TH-dependent development of Purkinje neurons in vitro using a serum-free chemically defined medium. The degree of dendritic development of Purkinje cells is TH dose-dependent and exhibits high sensitivity in the pM order. Therefore, in the present study
Casey, Jillian P
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterised by abnormal ciliary motion and impaired mucociliary clearance, leading to recurrent respiratory infections, sinusitis, otitis media and male infertility. Some patients also have laterality defects. We recently reported the identification of three disease-causing PCD genes in the Irish Traveller population; RSPH4A, DYX1C1 and CCNO. We have since assessed an additional Irish Traveller family with a complex phenotype involving PCD who did not have any of the previously identified PCD mutations.
Full Text Available Abstract Background: One of the side effects of chemotherapy drugs is oxidative stress that can damage the sperm and decrease fertility potential. Antioxidant agents in Imedeen like Lycophence GS and Biomarine complex play important role in preventing the direct and indirect effects of free radicals. So, in this study, the inhibitory effects of Imedeen on the damage caused by cyclophosphamide were investigated. Materials and Methods: In this experimental study, 60 mature male mice were divided into six groups. The control group received physiological serum, the second group received CP with 12mg/kg/day dosage, the third group received Imedeen with 111µg/kg/day dosage, the fourth group received Imedeen with 222 µg/kg/day dosage, the fifth group received CP and Imedeen with one dosage and the last group received CP and Imedeen with double dosage. Sampling and studies on sperm quality were performed after 35 days. Results: The results obtained from the caudal epididymal sperm analysis revealed that treated with CP caused significant decrease in sperm count, motility, and viability, while abnormal sperms increased as compared to control gruop. These changes were associated with significant increase in DNA damage and chromatin abnormality in the caudal epididymal spermatozoa as evidenced by Acridine Orange and Aniline Blue staining respectively. Notably administration of Imedeen caused a considerable recovery in above-mentioned parameters. Conclusion: The results suggest that Imedeen as an antioxidant could diminish the side effects of cyclophosphamide in the reproductive system of male mice.
Kremer, Laura S; Danhauser, Katharina; Herebian, Diran; Petkovic Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Müller-Felber, Wolfgang; Haack, Tobias B; Płoski, Rafał; Lohmeier, Klaus; Schneider, Dominik; Klee, Dirk; Rokicki, Dariusz; Mayatepek, Ertan; Strom, Tim M; Meitinger, Thomas; Klopstock, Thomas; Pronicka, Ewa; Mayr, Johannes A; Baric, Ivo; Distelmaier, Felix; Prokisch, Holger
To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX. The enzyme catalyzes the epimerization of NAD(P)HX, thereby avoiding the accumulation of toxic metabolites. The clinical importance of the NAD(P)HX repair system has been unknown. Exome sequencing revealed pathogenic biallelic mutations in NAXE in children from four families with (sub-) acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions. Lactate was elevated in cerebrospinal fluid of all affected individuals. Disease onset was during the second year of life and clinical signs as well as episodes of deterioration were triggered by febrile infections. Disease course was rapidly progressive, leading to coma, global brain atrophy, and finally to death in all affected individuals. NAXE levels were undetectable in fibroblasts from affected individuals of two families. In these fibroblasts we measured highly elevated concentrations of the toxic metabolite cyclic-NADHX, confirming a deficiency of the mitochondrial NAD(P)HX repair system. Finally, NAD or nicotinic acid (vitamin B3) supplementation might have therapeutic implications for this fatal disorder. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Brancati, Francesco; Iannicelli, Miriam; Travaglini, Lorena; Mazzotta, Annalisa; Bertini, Enrico; Boltshauser, Eugen; D'Arrigo, Stefano; Emma, Francesco; Fazzi, Elisa; Gallizzi, Romina; Gentile, Mattia; Loncarevic, Damir; Mejaski-Bosnjak, Vlatka; Pantaleoni, Chiara; Rigoli, Luciana; Salpietro, Carmelo D; Signorini, Sabrina; Stringini, Gilda Rita; Verloes, Alain; Zabloka, Dominika; Dallapiccola, Bruno; Gleeson, Joseph G; Valente, Enza Maria
The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs. (c) 2008 Wiley-Liss, Inc.
Gona, Joseph K.; Rimba, Kenneth; Mapenzi, Rachel; Kihara, Michael
Objective To explore parents’ and professionals’ perceived causes and treatment of Autism Spectrum Disorders (ASD) on the Kenyan Coast. Methods In-depth interviews and focus group discussions using guiding questions were utilized in data collection. One hundred and three participants, who included parents of children with ASD, special needs teachers, clinicians, and social workers from diverse cultural background, participated in this study. The interviews and focus groups were recorded, transcribed verbatim and then translated to English. Themes were generated using content analysis. Results Preternatural causes were mentioned and included evil spirits, witchcraft, and curses. Biomedical causes comprised infections, drug abuse, birth complications, malnutrition, and genetic related problems. Treatment varied from traditional and spiritual healing to modern treatment in health facilities, and included consultations with traditional healers, offering prayers to God, and visits to hospitals. Conclusions The results suggest that regardless of cultural backgrounds, people on the Kenyan Coast have similar views on perceived causes and treatment of ASD. These findings provide valuable conceptual understanding for professionals when planning and implementing community based rehabilitation interventions targeting children with ASD within a local context. PMID:26267668
Joseph K Gona
Full Text Available To explore parents' and professionals' perceived causes and treatment of Autism Spectrum Disorders (ASD on the Kenyan Coast.In-depth interviews and focus group discussions using guiding questions were utilized in data collection. One hundred and three participants, who included parents of children with ASD, special needs teachers, clinicians, and social workers from diverse cultural background, participated in this study. The interviews and focus groups were recorded, transcribed verbatim and then translated to English. Themes were generated using content analysis.Preternatural causes were mentioned and included evil spirits, witchcraft, and curses. Biomedical causes comprised infections, drug abuse, birth complications, malnutrition, and genetic related problems. Treatment varied from traditional and spiritual healing to modern treatment in health facilities, and included consultations with traditional healers, offering prayers to God, and visits to hospitals.The results suggest that regardless of cultural backgrounds, people on the Kenyan Coast have similar views on perceived causes and treatment of ASD. These findings provide valuable conceptual understanding for professionals when planning and implementing community based rehabilitation interventions targeting children with ASD within a local context.
Anderson, Kirstie N; Kelly, Thomas P; Griffiths, Timothy D
Antibody mediated limbic encephalitis causes a sub acute encephalopathy with an amnestic syndrome, seizures and often an affective prodrome. Sleep disturbance including abnormal dream sleep and insomnia are described in a percentage of long-term survivors but there are very few detailed assessments of sleep disturbance in patients beyond the acute phase of illness. The objectives of this study were to understand the causes of sleep disturbance in the long-term survivors of antibody mediated limbic encephalitis. We screened twelve patients under long-term follow up with sleep questionnaires and went on to perform detailed sleep studies (polysomnography) in those who reported sleep disturbance. Two were found to have persistent, severe central and obstructive sleep apnoea and two others to have restless legs and periodic limb movements of sleep. This highlights the need to investigate sleep disturbance in this group of patients. Effective treatments may be available to improve quality of life and daytime function. Copyright © 2012 Elsevier B.V. All rights reserved.
Fairthorne, Jenny; Hammond, Geoff; Bourke, Jenny; Jacoby, Peter; Leonard, Helen
Introduction Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers. Yet no research has explored whether this poorer health is reflected in mortality rates or whether certain causes of death are more likely. We aimed to calculate the hazard ratios for death and for the primary causes of death in mothers of children with intellectual disability or ASD compared to other mothers. Methods The study population comprised all mothers of live-born children in Western Australia from 1983–2005. We accessed state-wide databases which enabled us to link socio-demographic details, birth dates, diagnoses of intellectual disability or ASD in the children and dates and causes of death for all mothers who had died prior to 2011. Using Cox Regression with death by any cause and death by each of the three primary causes as the event of interest, we calculated hazard ratios for death for mothers of children intellectual disability or ASD compared to other mothers. Results and Discussion During the study period, mothers of children with intellectual disability or ASD had more than twice the risk of death. Mothers of children with intellectual disability were 40% more likely to die of cancer; 150% more likely to die of cardiovascular disease and nearly 200% more likely to die from misadventure than other mothers. Due to small numbers, only hazard ratios for cancer were calculated for mothers of children with ASD. These mothers were about 50% more likely to die from cancer than other mothers. Possible causes and implications of our results are discussed. Conclusion Similar studies, pooling data from registries elsewhere, would improve our understanding of factors increasing the mortality of mothers of children with intellectual disability or ASD. This would allow the implementation of informed services and interventions to improve these mothers' longevity. PMID:25535971
Full Text Available INTRODUCTION: Mothers of children with intellectual disability or autism spectrum disorder (ASD have poorer health than other mothers. Yet no research has explored whether this poorer health is reflected in mortality rates or whether certain causes of death are more likely. We aimed to calculate the hazard ratios for death and for the primary causes of death in mothers of children with intellectual disability or ASD compared to other mothers. METHODS: The study population comprised all mothers of live-born children in Western Australia from 1983-2005. We accessed state-wide databases which enabled us to link socio-demographic details, birth dates, diagnoses of intellectual disability or ASD in the children and dates and causes of death for all mothers who had died prior to 2011. Using Cox Regression with death by any cause and death by each of the three primary causes as the event of interest, we calculated hazard ratios for death for mothers of children intellectual disability or ASD compared to other mothers. RESULTS AND DISCUSSION: During the study period, mothers of children with intellectual disability or ASD had more than twice the risk of death. Mothers of children with intellectual disability were 40% more likely to die of cancer; 150% more likely to die of cardiovascular disease and nearly 200% more likely to die from misadventure than other mothers. Due to small numbers, only hazard ratios for cancer were calculated for mothers of children with ASD. These mothers were about 50% more likely to die from cancer than other mothers. Possible causes and implications of our results are discussed. CONCLUSION: Similar studies, pooling data from registries elsewhere, would improve our understanding of factors increasing the mortality of mothers of children with intellectual disability or ASD. This would allow the implementation of informed services and interventions to improve these mothers' longevity.
McCarthy-Jones, Simon; Longden, Eleanor
Auditory verbal hallucinations (AVH: 'hearing voices') are found in both schizophrenia and post-traumatic stress disorder (PTSD). In this paper we first demonstrate that AVH in these two diagnoses share a qualitatively similar phenomenology. We then show that the presence of AVH in schizophrenia is often associated with earlier exposure to traumatic/emotionally overwhelming events, as it is by definition in PTSD. We next argue that the content of AVH relates to earlier traumatic events in a similar way in both PTSD and schizophrenia, most commonly having direct or indirect thematic links to emotionally overwhelming events, rather than being direct re-experiencing. We then propose, following cognitive models of PTSD, that the reconstructive nature of memory may be able to account for the nature of these associations between trauma and AVH content, as may threat-hypervigilance and the individual's personal goals. We conclude that a notable subset of people diagnosed with schizophrenia with AVH are having phenomenologically and aetiologically identical experiences to PTSD patients who hear voices. As such we propose that the iron curtain between AVH in PTSD (often termed 'dissociative AVH') and AVH in schizophrenia (so-called 'psychotic AVH') needs to be torn down, as these are often the same experience. One implication of this is that these trauma-related AVH require a common trans-diagnostic treatment strategy. Whilst antipsychotics are already increasingly being used to treat AVH in PTSD, we argue for the centrality of trauma-based interventions for trauma-based AVH in both PTSD and in people diagnosed with schizophrenia.
Full Text Available Auditory verbal hallucinations (AVH: ‘hearing voices’ are found in both schizophrenia and post-traumatic stress disorder (PTSD. In this paper we first demonstrate that AVH in these two diagnoses share a qualitatively similar phenomenology. We then show that the presence of AVH in schizophrenia is often associated with earlier exposure to traumatic/emotionally overwhelming events, as it is by definition in PTSD. We next argue that the content of AVH relates to earlier traumatic events in a similar way in both PTSD and schizophrenia, most commonly having direct or indirect thematic links to emotionally overwhelming events, rather than being direct re-experiencing. We then propose, following cognitive models of PTSD, that the reconstructive nature of memory may be able to account for the nature of these associations between trauma and AVH content, as may threat-hypervigilance and the individual’s personal goals. We conclude that a notable subset of people diagnosed with schizophrenia with AVH are having phenomenologically and aetiologically identical experiences to PTSD patients who hear voices. As such we propose that the iron curtain between AVH in PTSD (often termed ‘dissociative AVH’ and AVH in schizophrenia (so-called ‘psychotic AVH’ needs to be torn down, as these are often the same experience. One implication of this is that these trauma-related AVH require a common trans-diagnostic treatment strategy. Whilst antipsychotics are already increasingly being used to treat AVH in PTSD, we argue for the centrality of trauma-based interventions for trauma-based AVH in both PTSD and in people diagnosed with schizophrenia.
Yilmaz, Sanem; Serin, Mine; Canda, Ebru; Eraslan, Cenk; Tekin, Hande; Ucar, Sema Kalkan; Gokben, Sarenur; Tekgul, Hasan; Serdaroglu, Gul
Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. Late-onset biotinidase deficiency presents distinctly from the classical form such as limb weakness and vision problems. A 14-year-old boy presented with progressive vision loss and upper limb weakness. The patient was initiated steroid therapy with a preliminary diagnosis of neuromyelitis optica spectrum disorder due to the craniospinal imaging findings demonstrating optic nerve, brainstem and longitudinally extensive spinal cord involvement. Although the patient exhibited partial clinical improvement after pulse steroid therapy, craniocervical imaging performed one month after the initiation of steroid therapy did not show any regression. The CSF IgG index was <0.8 (normal: <0.8), oligoclonal band and aquaporin-4 antibodies were negative. Metabolic investigations revealed a low biotinidase enzyme activity 8% (0.58 nmoL/min/mL; normal range: 4.4 to 12). Genetic testing showed c.98-104delinsTCC and p.V457 M mutations in biotinidase (BTD) gene. At the third month of biotin replacement therapy, control craniospinal MRI demonstrated a complete regression of the lesions. The muscle strength of the case returned to normal. His visual acuity was 7/10 in the left eye and 9/10 in the right. The late-onset form of the biotinidase deficiency should be kept in mind in all patients with myelopathy with or without vision loss, particularly in those with inadequate response to steroid therapy. The family screening is important to identify asymptomatic individuals and timely treatment.
Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They go ... The down feeling is depression. The causes of bipolar disorder aren't always clear. It runs in families. ...
Lysaker, Paul H; Pattison, Michelle L; Leonhardt, Bethany L; Phelps, Scott; Vohs, Jenifer L
Poor insight in schizophrenia is prevalent across cultures and phases of illness. In this review, we examine the recent research on the relationship of insight with behavior, mood and perceived quality of life, on its complex roots, and on the effects of existing and emerging treatments. This research indicates that poor insight predicts poorer treatment adherence and therapeutic alliance, higher symptom severity and more impaired community function, while good insight predicts a higher frequency of depression and demoralization, especially when coupled with stigma and social disadvantage. This research also suggests that poor insight may arise in response to biological, experiential, neuropsychological, social-cognitive, metacognitive and socio-political factors. Studies of the effects of existing and developing treatments indicate that they may influence insight. In the context of earlier research and historical models, these findings support an integrative model of poor insight. This model suggests that insight requires the integration of information about changes in internal states, external circumstances, others' perspectives and life trajectory as well as the multifaceted consequences and causes of each of those changes. One implication is that treatments should, beyond providing education, seek to assist persons with schizophrenia to integrate the broad range of complex and potentially deeply painful experiences which are associated with mental illness into their own personally meaningful, coherent and adaptive picture. © 2018 World Psychiatric Association.
Jovanović, Aleksandar A; Ivković, Maja; Gašić, Miroslava Jašović
A 79-year-old woman suffered from acute posttraumatic stress disorder (PTSD) and a loco typico, non-displaced fracture of her right distal radius due to an incident involving the assault of two unleashed owned dogs, which suddenly ran into her and aggressively jumped on her chest and knocked her down to the ground. Recovery for her damage claim concerning pain and disability due to her right forearm fracture caused by the incident, was not the issue in the litigation concerned. However, the issue of delayed impact of her previous Holocaust experience placed a significant challenge on M.N., as a plaintiff, in establishing a causal link between the posttraumatic stress disorder concerned and the alleged harmful action of the defendants, the owners of the two dogs. The case reported here proved interesting and instructive not only in the sense of addressing main issues relevant to litigation for psychological damage related to reactivated PTSD and delayed PTSD, but also in the sense of pointing at the clinical relevance of dog assaults on humans which, even without dog bite injuries, may result in a severe traumatization and eventual civil lawsuit. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
Moon Ho Do
Full Text Available High fat diet-induced changes in gut microbiota have been linked to intestinal permeability and metabolic endotoxemia, which is related to metabolic disorders. However, the influence of a high-glucose (HGD or high-fructose (HFrD diet on gut microbiota is largely unknown. We performed changes of gut microbiota in HGD- or HFrD-fed C57BL/6J mice by 16S rRNA analysis. Gut microbiota-derived endotoxin-induced metabolic disorders were evaluated by glucose and insulin tolerance test, gut permeability, Western blot and histological analysis. We found that the HGD and HFrD groups had comparatively higher blood glucose and endotoxin levels, fat mass, dyslipidemia, and glucose intolerance without changes in bodyweight. The HGD- and HFrD-fed mice lost gut microbial diversity, characterized by a lower proportion of Bacteroidetes and a markedly increased proportion of Proteobacteria. Moreover, the HGD and HFrD groups had increased gut permeability due to alterations to the tight junction proteins caused by gut inflammation. Hepatic inflammation and lipid accumulation were also markedly increased in the HGD and HFrD groups. High levels of glucose or fructose in the diet regulate the gut microbiota and increase intestinal permeability, which precedes the development of metabolic endotoxemia, inflammation, and lipid accumulation, ultimately leading to hepatic steatosis and normal-weight obesity.
The human body is two-thirds water. The ability of ensuring the proper amount of water inside the body is essential for the survival of mammals. The key event for maintenance of body water balance is water reabsorption in the kidney collecting ducts, which is regulated by aquaporin-2 (AQP2). AQP2 is a channel that is exclusively selective for water molecules and never allows permeation of ions or other small molecules. Under normal conditions, AQP2 is restricted within the cytoplasm of the collecting duct cells. However, when the body is dehydrated and needs to retain water, AQP2 relocates to the apical membrane, allowing water reabsorption from the urinary tubule into the cell. Its impairments result in various water balance disorders including diabetes insipidus, which is a disease characterized by a massive loss of water through the kidney, leading to severe dehydration in the body. Dysregulation of AQP2 is also a common cause of water retention and hyponatremia that exacerbate the prognosis of congestive heart failure and hepatic cirrhosis. Many studies have uncovered the regulation mechanisms of AQP2 at the single-molecule level, the whole-body level, and the clinical level. In clinical practice, urinary AQP2 is a useful marker for body water balance (hydration status). Moreover, AQP2 is now attracting considerable attention as a potential therapeutic target for water balance disorders which commonly occur in many diseases.
Butnoriene, Jurate; Bunevicius, Adomas; Saudargiene, Ausra; Nemeroff, Charles B; Norkus, Antanas; Ciceniene, Vile; Bunevicius, Robertas
Studies investigating specifically whether metabolic syndrome (MetS) and common psychiatric disorders are independently associated with mortality are lacking. In a middle-aged general population, we investigated the association of the MetS, current major depressive episode (MDE), lifetime MDE, and generalized anxiety disorder (GAD) with ten-year all-cause and cardiovascular disease mortality. From February 2003 until January 2004, 1115 individuals aged 45 years and older were randomly selected from a primary care practice and prospectively evaluated for: (1) MetS (The World Health Organization [WHO], National Cholesterol Education Program/Adult Treatment Panel III and International Diabetes Federation [IDF] definitions); (2) current MDE and GAD, and lifetime MDE (Mini International Neuropsychiatric Interview); and (3) conventional cardiovascular risk factors. Follow-up continued through January, 2013. During the 9.32 ± 0.47 years of follow-up, there were 248 deaths, of which 148 deaths were attributed to cardiovascular causes. In women, WHO-MetS and IDF-MetS were associated with greater all-cause (HR-values range from 1.77 to 1.91; p-values ≤ 0.012) and cardiovascular (HR-values range from 1.83 to 2.77; p-values ≤ 0.013) mortality independent of cardiovascular risk factors and MDE/GAD. Current GAD predicted greater cardiovascular mortality (HR-values range from 1.86 to 1.99; p-values ≤ 0.025) independently from MetS and cardiovascular risk factors. In men, the MetS and MDE/GAD were not associated with mortality. In middle aged women, the MetS and GAD predicted greater 10-year cardiovascular mortality independently from each other; 10-year all-cause mortality was independently predicted by the MetS. MetS and GAD should be considered important and independent mortality risk factors in women. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Nguyen, Desiree; Leistritz, Dru F.; Turner, Lesley; MacGregor, David; Ohson, Kamal; Dancey, Paul; Martin, George M.; Oshima, Junko
Laminopathies are a group of genetic disorders caused by LMNA mutations; they include muscular dystrophies, lipodystrophies, and progeroid syndromes. We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features. Examination of the nuclei of dermal fibroblasts revealed the irregular morphology characteristic of LMNA mutant cells. The nuclear morphological abnormalities of LMNA mutant lymphoblastoid cell lines were less prominent compared to those of primary fibroblasts. Since it has been reported that progeroid features are associated with increased extracellular matrix in dermal tissues, we compared a subset of these components in fibroblast cultures from LMNA mutants with those of control fibroblasts. There was no evidence of intracellular accumulation or altered mobility of collagen chains, or altered conversion of procollagen to collagen, suggesting that skin fibroblast-mediated matrix production may not play a significant role in the pathogenesis of this particular laminopathy
Effect of radiosynovectomy in patients with inflammatory joint disorders not caused by rheumatoid arthritis; Wirksamkeit der Radiosynoviorthese bei degenerativ-entzuendlichen und chronisch-entzuendlichen Gelenkerkrankungen
Kroeger, S.; Klutmann, S.; Bohuslavizki, K.H.; Clausen, M. [Universitaetskrankenhaus Eppendorf, Hamburg (Germany). Abt. fuer Nuklearmedizin; Sawula, J.A.; Brenner, W.; Henze, E. [Kiel Univ. (Germany). Klinik fuer Nuklearmedizin
Aim: Effect of radiosynovectomy (RS) should be evaluated both by subjective and objective parameters in patients with osteoarthritis and in patients with inflammatory joint disorders not caused by rheumatoid arthritis. Methods: A total of 98 joints in 61 patients were investigated. Patients were divided into two groups. The first group included 35 patients with therapy-resistant effusions caused by severe osteoarthritis (46 joints). The second group consisted of 26 patients (52 joints) with ankylosing spondylitis, reactive arthritis, undifferentiated spondylarthropathy, psoriatic arthritis, pigmented villo-nodular synovitis, and recurrent synovitis following surgery. Effect of RS was evaluated by a standardized questionnaire and quantified by T/B-ratios derived from blood pool images prior to and after RS. Results: Within the first patient group suffering from osteoarthritis, 40% showed a good or excellent improvement of clinical symptoms, 51% were unchanged, and in 9% symptoms worsened. Similar results were found in the second patient group. The majority of unchanged results were small finger joints. In contrast, wrist and knee joints showed a better improvement. Good correlation between results of bone scan and patients subjective impression was found in 38% and 67% in the first and the second patient group, respectively. Conclusion: Radiosynovectomy might be an effective treatment in osteoarthritis and inflammatory joint disorders not caused by rheumatoid arthritis. (orig.) [German] Ziel: Der Therapieerfolg der Radiosynoviorthese (RSO) sollte bei aktivierter Arthrose und anderen chronisch-entzuendlichen Gelenkerkrankungen anhand der subjektiven Befindlichkeit und objektiver Parameter evaluiert werden. Methoden: Es wurden insgesamt 98 Gelenke bei 61 Patienten behandelt. Entsprechend der Grunderkrankung umfasste die erste Gruppe 35 Patienten mit einer therapieresistenten, aktivierten Arthrose (46 Gelenke). Die zweite Patientengruppe beinhaltete 26 Patienten (52
Bipolar disorder, a brain disorder that causes unusual shifts in a person's mood, affects approximately one percent of the population. It commonly occurs in late adolescence and is often unrecognized. The diagnosis of bipolar disorder is made on the basis of symptoms, course of illness, and when possible, family history. Thoughts of suicide are…
Kim, Gwang-Jin; Sock, Elisabeth; Buchberger, Astrid; Just, Walter; Denzer, Friederike; Hoepffner, Wolfgang; German, James; Cole, Trevor; Mann, Jillian; Seguin, John H; Zipf, William; Costigan, Colm; Schmiady, Hardi; Rostásy, Moritz; Kramer, Mildred; Kaltenbach, Simon; Rösler, Bernd; Georg, Ina; Troppmann, Elke; Teichmann, Anne-Christin; Salfelder, Anika; Widholz, Sebastian A; Wieacker, Peter; Hiort, Olaf; Camerino, Giovanna; Radi, Orietta; Wegner, Michael; Arnold, Hans-Henning; Scherer, Gerd
SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice. A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46,XY and 46,XX disorders of sex development (DSD). We wanted to better define this region for both disorders. By CNV analysis, we identified SOX9 upstream duplications in three cases of SRY-negative 46,XX DSD, which together with previously reported duplications define a 68 kb region, 516-584 kb upstream of SOX9, designated XXSR (XX sex reversal region). More importantly, we identified heterozygous deletions in four families with SRY-positive 46,XY DSD without skeletal phenotype, which define a 32.5 kb interval 607.1-639.6 kb upstream of SOX9, designated XY sex reversal region (XYSR). To localise the suspected testis-specific enhancer, XYSR subfragments were tested in cell transfection and transgenic experiments. While transgenic experiments remained inconclusive, a 1.9 kb SRY-responsive subfragment drove expression specifically in Sertoli-like cells. Our results indicate that isolated 46,XY and 46,XX DSD can be assigned to two separate regulatory regions, XYSR and XXSR, far upstream of SOX9. The 1.9 kb SRY-responsive subfragment from the XYSR might constitute the core of the Sertoli-cell enhancer of human SOX9, representing the so far missing link in the genetic cascade of male sex determination. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
Xue, Yuan; Schoser, Benedikt; Rao, Aliz R; Quadrelli, Roberto; Vaglio, Alicia; Rupp, Verena; Beichler, Christine; Nelson, Stanley F; Schapacher-Tilp, Gudrun; Windpassinger, Christian; Wilcox, William R
Previously, we reported a rare X-linked disorder, Uruguay syndrome in a single family. The main features are pugilistic facies, skeletal deformities, and muscular hypertrophy despite a lack of exercise and cardiac ventricular hypertrophy leading to premature death. An ≈19 Mb critical region on X chromosome was identified through identity-by-descent analysis of 3 affected males. Exome sequencing was conducted on one affected male to identify the disease-causing gene and variant. A splice site variant (c.502-2A>G) in the FHL1 gene was highly suspicious among other candidate genes and variants. FHL1A is the predominant isoform of FHL1 in cardiac and skeletal muscle. Sequencing cDNA showed the splice site variant led to skipping of exons 6 of the FHL1A isoform, equivalent to the FHL1C isoform. Targeted analysis showed that this splice site variant cosegregated with disease in the family. Western blot and immunohistochemical analysis of muscle from the proband showed a significant decrease in protein expression of FHL1A. Real-time polymerase chain reaction analysis of different isoforms of FHL1 demonstrated that the FHL1C is markedly increased. Mutations in the FHL1 gene have been reported in disorders with skeletal and cardiac myopathy but none has the skeletal or facial phenotype seen in patients with Uruguay syndrome. Our data suggest that a novel FHL1 splice site variant results in the absence of FHL1A and the abundance of FHL1C, which may contribute to the complex and severe phenotype. Mutation screening of the FHL1 gene should be considered for patients with uncharacterized myopathies and cardiomyopathies. © 2016 American Heart Association, Inc.
Neutel, Dulce; Tchikviladzé, Maya; Charles, Perrine; Leu-Semenescu, Smaranda; Roze, Emmanuel; Durr, Alexandra; Arnulf, Isabelle
Patients with Huntington disease (HD) and their spouses often complain of agitation during sleep, but the causes are mostly unknown. To evaluate sleep and nocturnal movements in patients with various HD stages and CAG repeats length. The clinical features and sleep studies of 29 patients with HD were retrospectively collected (11 referred for genotype-phenotype correlations and 18 for agitation during sleep) and compared with those of 29 age- and sex-matched healthy controls. All patients had videopolysomnography, but the movements during arousals were re-analyzed in six patients with HD with stored video. The patients had a longer total sleep period and REM sleep onset latency, but no other differences in sleep than controls. There was no correlation between CAG repeat length and sleep measures, but total sleep time and sleep efficiency were lower in the subgroup with moderate than milder form of HD. Periodic limb movements and REM sleep behavior disorders were excluded, although 2/29 patients had abnormal REM sleep without atonia. In contrast, they had clumsy and opisthotonos-like movements during arousals from non-REM or REM sleep. Some movements were violent and harmful. They might consist of voluntary movements inappropriately involving the proximal part of the limbs on a background of exaggerated hypotonia. Giant (>65 mcV) sleep spindles were observed in seven (24%) patients with HD and one control. The nocturnal agitation in patients with HD seems related to anosognostic voluntary movements on arousals, rather than to REM sleep behavior disorder and other sleep problems. Copyright © 2014 Elsevier B.V. All rights reserved.
Schäfer, Ingo; Barnow, Sven; Pawils, Silke
Substance use disorders (SUDs) belong to the most frequent behavioural consequences of childhood abuse and neglect (CAN). In community samples, about 20% of adults with experiences of abuse or neglect in childhood have a lifetime diagnosis of an SUD. About 30% of individuals seeking treatment for a post-traumatic disorder have an SUD and 24–67% of all patients in treatment for an SUD have a history of CAN. About 16% of all children and adolescents under the age of 20 in Germany grow up in families where an alcohol- and/or drug-dependence is present. The children of parents with SUDs have, in addition to other risks to their development in cognitive and psychosocial domains, an increased risk of experiencing violence and neglect. Regarding both perspectives, SUD as a cause and as a consequence of CAN, a better understanding of relevant mediators and risk factors is necessary to improve prevention and develop adequate treatments. The aims of the BMBF-funded research network CANSAS are: 1. To gain a better understanding of the relationships between these two important public health problems (basic research), 2. To provide evidence-based treatments for survivors of CAN with SUDs and to increase the awareness for the necessity to diagnose CAN in patients with SUDs in counselling and treatment facilities (research on diagnostics and therapy), 3. To improve the systematic evaluation of child welfare among children of parents with SUDs through counselling services and to promote links between addiction services and youth welfare services (prevention research and health services research). In a multidisciplinary approach, the CANSAS network brings together experts in the fields of trauma treatment, epidemiology, basic research, health services research, prevention research as well as addiction services.
Rabah M. Shawky
Apr 20, 2012 ... syndrome) in an Egyptian child with premature loss of teeth, and cafe´ au ... with small ear lobule, eyebrows were sparse with long eye- lashes ... and dry. Figure 1. Demonstrates facial features with large mouth and tongue.
Full Text Available Abstract Background Chromosome changes in the bone marrow (BM of patients with persistent cytopenia are often considered diagnostic for a myelodysplastic syndrome (MDS. Comprehensive cytogenetic evaluations may give evidence of the real pathogenetic role of these changes in cases with cytopenia without morphological signs of MDS. Results Chromosome anomalies were found in the BM of three patients, without any morphological evidence of MDS: 1 an acquired complex rearrangement of chromosome 21 in a boy with severe aplastic anaemia (SAA; the rearrangement caused the loss of exons 2–8 of the RUNX1 gene with subsequent hypoexpression. 2 a constitutional complex rearrangement of chromosome 21 in a girl with congenital thrombocytopenia; the rearrangement led to RUNX1 disruption and hypoexpression. 3 an acquired paracentric inversion of chromosome 1, in which two regions at the breakpoints were shown to be lost, in a boy with aplastic anaemia; the MPL gene, localized in chromosome 1 short arms was not mutated neither disrupted, but its expression was severely reduced: we postulate that the aplastic anaemia was due to position effects acting both in cis and in trans, and causing Congenital Amegakaryocytic Thrombocytopenia (CAMT. Conclusions A clonal anomaly in BM does not imply per se a diagnosis of MDS: a subgroup of BM hypoplastic disorders is directly due to chromosome structural anomalies with effects on specific genes, as was the case of RUNX1 and MPL in the patients here reported with diagnosis of SAA, thrombocytopenia, and CAMT. The anomaly may be either acquired or constitutional, and it may act by deletion/disruption of the gene, or by position effects. Full cytogenetic investigations, including a-CGH, should always be part of the diagnostic evaluation of patients with BM aplasia/hypoplasia and peripheral cytopenias.
Sheila E. Crowell
Full Text Available Borderline personality disorder (BPD is a complex psychiatric diagnosis characterized by dysregulated behaviors, emotions, cognitions, and interpersonal relationships. In recent years, developmental psychopathologists have sought to identify early origins of BPD, with the ultimate goal of developing and providing effective preventative interventions for those at highest risk. In addition to heritable biological sensitivities, many scholars assert that environmental and interpersonal risk factors contribute to the emergence and maintenance of key borderline traits. Nonetheless, many BPD researchers examine only affected individuals, neglecting the family, peer, couple, and other dynamic contextual forces that impinge upon individual-level behavior. In the past decade, however, theoretical and empirical research has increasingly explored the interpersonal causes, correlates, and consequences of BPD. Such work has resulted in novel research and clinical theories intended to better understand and improve interpersonal dynamics among those with borderline traits. A major objective for the field is to better characterize how interpersonal dynamics affect (and are affected by the behaviors, emotions, and thoughts of vulnerable individuals to either reduce or heighten risk for BPD.
Nakahachi, Takayuki; Iwase, Masao; Takahashi, Hidetoshi; Honaga, Eiko; Sekiyama, Ryuji; Ukai, Satoshi; Ishii, Ryouhei; Ishigami, Wataru; Kajimoto, Osami; Yamashita, Ko; Hashimoto, Ryota; Tanii, Hisashi; Shimizu, Akira; Takeda, Masatoshi
Working memory performance has been inconsistently reported in autism spectrum disorders (ASD). Several studies in ASD have found normal performance in digit span and poor performance in digit symbol task although these are closely related with working memory. It is assumed that poor performance in digit symbol could be explained by confirmatory behavior, which is induced due to the vague memory representation of number-symbol association. Therefore it was hypothesized that the performance of working memory task, in which vagueness did not cause confirmatory behavior, would be normal in ASD. For this purpose, the Advanced Trail Making Test (ATMT) was used. The performance of digit span, digit symbol and ATMT was compared between ASD and normal control. The digit span, digit symbol and ATMT was given to 16 ASD subjects and 28 IQ-, age- and sex-matched control subjects. The scores of these tasks were compared. A significantly lower score for ASD was found only in digit symbol compared with control subjects. There were no significant difference in digit span and working memory estimated by ATMT. Discrepancy of scores among working memory-related tasks was demonstrated in ASD. Poor digit symbol performance, normal digit span and normal working memory in ATMT implied that ASD subjects would be intact in working memory itself, and that superficial working memory dysfunction might be observed due to confirmatory behavior in digit symbol. Therefore, to evaluate working memory in ASD, tasks that could stimulate psychopathology specific to ASD should be avoided.
Flueck, Christa E.; Mullis, Primus E.; Pandey, Amit V.
Research highlights: → Cytochrome P450 3A4 (CYP3A4), metabolizes 50% of drugs in clinical use and requires NADPH-P450 reductase (POR). → Mutations in human POR cause congenital adrenal hyperplasia from diminished activities of steroid metabolizing P450s. → We are reporting that mutations in POR may reduce CYP3A4 activity. → POR mutants Y181D, A457H, Y459H, V492E and R616X lost 99%, while A287P, C569Y and V608F lost 60-85% CYP3A4 activity. → Reduction of CYP3A4 activity may cause increased risk of drug toxicities/adverse drug reactions in patients with POR mutations. -- Abstract: Cytochrome P450 3A4 (CYP3A4), the major P450 present in human liver metabolizes approximately half the drugs in clinical use and requires electrons supplied from NADPH through NADPH-P450 reductase (POR, CPR). Mutations in human POR cause a rare form of congenital adrenal hyperplasia from diminished activities of steroid metabolizing P450s. In this study we examined the effect of mutations in POR on CYP3A4 activity. We used purified preparations of wild type and mutant human POR and in vitro reconstitution with purified CYP3A4 to perform kinetic studies. We are reporting that mutations in POR identified in patients with disordered steroidogenesis/Antley-Bixler syndrome (ABS) may reduce CYP3A4 activity, potentially affecting drug metabolism in individuals carrying mutant POR alleles. POR mutants Y181D, A457H, Y459H, V492E and R616X had more than 99% loss of CYP3A4 activity, while POR mutations A287P, C569Y and V608F lost 60-85% activity. Loss of CYP3A4 activity may result in increased risk of drug toxicities and adverse drug reactions in patients with POR mutations.
Mitsukawa, Kayo; Mombereau, Cedric; Lötscher, Erika; Uzunov, Doncho P; van der Putten, Herman; Flor, Peter J; Cryan, John F
Regulation of neurotransmission via group-III metabotropic glutamate receptors (mGluR4, -6, -7, and -8) has recently been implicated in the pathophysiology of affective disorders, such as major depression and anxiety. For instance, mice with a targeted deletion of the gene for mGluR7 (mGluR7-/-) showed antidepressant and anxiolytic-like effects in a variety of stress-related paradigms, including the forced swim stress and the stress-induced hyperthermia tests. Deletion of mGluR7 reduces also amygdala- and hippocampus-dependent conditioned fear and aversion responses. Since the hypothalamic-pituitary-adrenal (HPA) axis regulates the stress response we investigate whether parameters of the HPA axis at the levels of selected mRNA transcripts and endocrine hormones are altered in mGluR7-deficient mice. Over all, mGluR7-/- mice showed only moderately lower serum levels of corticosterone and ACTH compared with mGluR7+/+ mice. More strikingly however, we found strong evidence for upregulated glucocorticoid receptor (GR)-dependent feedback suppression of the HPA axis in mice with mGluR7 deficiency: (i) mRNA transcripts of GR were significantly upregulated in the hippocampus of mGluR7-/- animals, (ii) similar increases were seen with 5-HT1A receptor transcripts, which are thought to be directly controlled by the transcription factor GR and finally (iii) mGluR7-/- mice showed elevated sensitivity to dexamethasone-induced suppression of serum corticosterone when compared with mGluR7+/+ animals. These results indicate that mGluR7 deficiency causes dysregulation of HPA axis parameters, which may account, at least in part, for the phenotype of mGluR7-/- mice in animal models for anxiety and depression. In addition, we present evidence that protein levels of brain-derived neurotrophic factor are also elevated in the hippocampus of mGluR7-/- mice, which we discuss in the context of the antidepressant-like phenotype found in those animals. We conclude that genetic ablation of m
Vieta, Eduard; Berk, Michael; Schulze, Thomas G
Bipolar disorders are chronic and recurrent disorders that affect >1% of the global population. Bipolar disorders are leading causes of disability in young people as they can lead to cognitive and functional impairment and increased mortality, particularly from suicide and cardiovascular disease...... and accurate diagnosis is difficult in clinical practice as the onset of bipolar disorder is commonly characterized by nonspecific symptoms, mood lability or a depressive episode, which can be similar in presentation to unipolar depression. Moreover, patients and their families do not always understand...... a bipolar disorder from other conditions. Optimal early treatment of patients with evidence-based medication (typically mood stabilizers and antipsychotics) and psychosocial strategies is necessary....
Nordentoft, Merete; Wahlbeck, Kristian; Hällgren, Jonas
Excess mortality among patients with severe mental disorders has not previously been investigated in detail in large complete national populations.......Excess mortality among patients with severe mental disorders has not previously been investigated in detail in large complete national populations....
... See a Dentist? What is Dental Amalgam (Silver Filling)? Temporomandibular Joint Disorder Men: Looking for a Better ... sinus or ear infections and tension in the facial muscles can cause discomfort that resembles a toothache, ...
... and often disabling disease of the central nervous system. > Muscular dystrophy MD is characterized by the degeneration of skeletal muscles. > Neurofibromatosis Progressive disorder of the nervous system that causes tumors on the nerves. > Post-polio ...
... to being completely unable to speak or understand speech. Causes include Hearing disorders and deafness Voice problems, ... or those caused by cleft lip or palate Speech problems like stuttering Developmental disabilities Learning disorders Autism ...
Specific Language Impairment, Nonverbal IQ, Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, Cochlear Implants, Bilingualism, and Dialectal Variants: Defining the Boundaries, Clarifying Clinical Conditions, and Sorting out Causes
Rice, Mabel L.
Purpose: The purpose of this research forum article is to provide an overview of a collection of invited articles on the topic "specific language impairment (SLI) in children with concomitant health conditions or nonmainstream language backgrounds." Topics include SLI, attention-deficit/hyperactivity disorder, autism spectrum disorder,…
Mª Carmen Arenas
Full Text Available Anxiety disorders are common in both men and women and are particularly disabling for the sufferer. Women of reproductive age are more vulnerable to developing these mental disorders than men; in fact their prevalence is 2-3 times higher among females than among males. Sex differences have also been reported in relation to the manifestation and expression of symptoms, the will to request medical or psychological assistance, the course of the disease, and even in the response to treatment. These sex differences may be attributable to multiple factors, such as genetic predisposition, anatomy, hormones and environment. However, very little is known about the risk factors for women with respect to developing anxiety disorders, and so the origins of sex differences in these disorders is an important topic of research. We consider that variations in stress reactivity may be one of the mechanisms underlying gender differences in anxiety disorders. The purpose of this brief review is to highlight data on the psychobiological factors that make women more prone to suffering anxiety disorders than men.
... to control them. Avoidant/Restrictive Food Intake Disorder (ARFID) ARFID is a new term that some people think ... eating issues can also cause it. People with ARFID don't have anorexia or bulimia, but they ...
... exact cause of autoimmune disorders is unknown. One theory is that some microorganisms (such as bacteria or ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...
Eriksson, Karin; Forsgren, Emma; Hartelius, Lena; Saldert, Charlotta
To evaluate the effect of a communication partner training programme directed to enrolled nurses working with people with communication disorders in nursing homes, using an individualised approach. Five dyads consisting of a person with stroke-induced aphasia (n = 4) or Parkinson's disease (PD) (n = 1) living in different nursing homes and his/her enrolled nurse participated in the study, which had a replicated single-subject design with multiple baselines across individuals. The main element of the intervention was supervised analysis of video-recorded natural interaction in everyday nursing situations and the formulation of individual goals to change particular communicative strategies. Outcome was measured via blinded assessments of filmed natural interaction obtained at baseline, intervention and follow-up and showed an increased use of the target communicative strategies. Subjective measures of goal attainment by the enrolled nurses were consistent with these results. Measures of perceived functional communication on behalf of the persons with communication disorders were mostly positive; four of five participants with communication disorders and two of five enrolled nurses reported improved functional communication after intervention. The use of an individualised communication partner training programme led to significant changes in natural interaction, which contributes importantly to a growing body of knowledge regarding communication partner training. Communication partner training can improve the communicative environment of people with communication disorders. For people with communication disorders who live in institutions, the main conversation partner is likely to be a professional caretaker. An individualised approach for communication partner training that focussed on specific communication patterns was successful in increasing the use of supportive strategies that enrolled nurses used in natural interaction with persons with communication disorders
Hodgins, David C; Stea, Jonathan N; Grant, Jon E
Gambling disorders, including pathological gambling and problem gambling, have received increased attention from clinicians and researchers over the past three decades since gambling opportunities have expanded around the world. This Seminar reviews prevalence, causes and associated features, screening and diagnosis, and treatment approaches. Gambling disorders affect 0·2-5·3% of adults worldwide, although measurement and prevalence varies according to the screening instruments and methods used, and availability and accessibility of gambling opportunities. Several distinct treatment approaches have been favourably evaluated, such as cognitive behavioural and brief treatment models and pharmacological interventions. Although promising, family therapy and support from Gamblers Anonymous are less well empirically supported. Gambling disorders are highly comorbid with other mental health and substance use disorders, and a further understanding is needed of both the causes and treatment implications of this disorder. Copyright © 2011 Elsevier Ltd. All rights reserved.
Bilder, Deborah; Botts, Elizabeth L.; Smith, Ken R.; Pimentel, Richard; Farley, Megan; Viskochil, Joseph; McMahon, William M.; Block, Heidi; Ritvo, Edward; Ritvo, Riva-Ariella; Coon, Hilary
This study's purpose was to investigate mortality among individuals with autism spectrum disorders (ASD) ascertained during a 1980s statewide autism prevalence study (n = 305) in relation to controls. Twenty-nine of these individuals (9.5 %) died by the time of follow up, representing a hazard rate ratio of 9.9 (95 % CI 5.7-17.2) in relation to…
Reed, Phil; Broomfield, Laura; McHugh, Louise; McCausland, Aisling; Leader, Geraldine
Two experiments examined whether over-selectivity is the product of a post-acquisition performance deficit, rather than an attention problem. In both experiments, children with Autistic Spectrum Disorder were presented with a trial-and-error discrimination task using two, two-element stimuli and over-selected in both studies. After behavioral…
Miyake, Yoshie; Okamoto, Yuri; Jinnin, Ran; Shishida, Kazuhiro; Okamoto, Yasumasa
Eating disorders are characterized by aberrant patterns of eating behavior, including such symptoms as extreme restriction of food intake or binge eating, and severe disturbances in the perception of body shape and weight, as well as a drive for thinness and obsessive fears of becoming fat. Eating disorder is an important cause for physical and psychosocial morbidity in young women. Patients with eating disorders have a deficit in the cognitive process and functional abnormalities in the brain system. Recently, brain-imaging techniques have been used to identify specific brain areas that function abnormally in patients with eating disorders. We have discussed the clinical and cognitive aspects of eating disorders and summarized neuroimaging studies of eating disorders.
Full Text Available Objectives: To investigate if effort–reward imbalance (ERI and overcommitment (OC are associated with all-cause and mental disorder long-term sick leave (LS, and to identify differences in associations between genders, private versus public sector employees and socioeconomic status groups. Material and Methods: The study uses a cross-sectional case-control design with a sample of 3477 persons on long-term sick leave of more than 59 days and a control group of 2078 in employment. Data on sick leave originate from social insurance registers, while data on health, working and living conditions were gathered through a survey. The binary logistic regression was used to test the multivariate associations. Results: Effort–reward imbalance was associated with all-cause LS among the women (odds ratio (OR = 1.58, 95% CI: 1.2–2.08, but not among the men. Associations for mental disorder LS were evident for both ERI and OC among both genders (ERI/OC: women OR = 2.76/2.82; men OR = 2.18/2.92. For the men these associations were driven by high effort, while for the women it was low job esteem in public sector and low job security in private sector. Among the highly educated women, ERI was strongly related to mental disorder LS (OR = 6.94, 95% CI: 3.2–15.04, while the highly educated men seemed to be strongly affected by OC for the same outcome (OR = 5.79, 95% CI: 1.48–22.57. Conclusions: The study confirmed the independent roles of ERI and OC for LS, with stronger associations among the women and for mental disorders. The ERI model is a promising tool that can contribute to understanding the prevailing gender gap in sick leave and increasing sick leave due to mental disorders. Int J Occup Med Environ Health 2016;29(6:973–989
Riva, Giuseppe; Dakanalis, Antonios
According to the Diagnostic and Statistical Manual of Mental Disorders (DSM V) eating problems are the clinical core of eating disorders (EDs). However, the importance of shape and weight overvaluation symptoms in these disorders underlines the critical role of the experience of the body in the etiology of EDs. This article suggests that the transdiagnostic centrality of these symptoms in individuals with EDs may reflect a deficit in the processing and integration of multisensory bodily representations and signals. Multisensory body integration is a critical cognitive and perceptual process, allowing the individual to protect and extend her/his boundaries at both the homeostatic and psychological levels. To achieve this goal the brain integrates sensory data arriving from real-time multiple sensory modalities and internal bodily information with predictions made using the stored information about the body from conceptual, perceptual, and episodic memory. In this view the emotional, visual, tactile, proprioceptive and interoceptive deficits reported by many authors in individuals with EDs may reflect a broader impairment in multisensory body integration that affects the individual's abilities: (a) to identify the relevant interoceptive signals that predict potential pleasant (or aversive) consequences; and (b) to modify/correct the autobiographical allocentric (observer view) memories of body related events (self-objectified memories). Based on this view, the article also proposes a strategy, based on new technologies (i.e., virtual reality and brain/body stimulation), for using crossmodal associations to reactivate and correct the multisensory body integration processes.
... If I have a seizure disorder, can it cause problems during pregnancy? • What risks are associated with having a seizure ... If I have a seizure disorder, can it cause problems during pregnancy? Seizure disorders can affect pregnancy in several ways: • ...
Belkina, L M; Korchazhkina, N B; Kamskova, Iu G; Fomin, N A
The preventive and therapeutical effects of sodium valproate (SV), 200 mg/kg, on cardiac contractile disorders (developed pressure, rate-pressure products, dp/dt) were studied in rats having 2-day myocardial infarction (MI). The postinfarction rather than preinfarction use of SV substantially restricted the depressed resting left ventricular function. Given by two regimens, SV increased cardiac resistance to the maximum isometric load induced by 60-sec ligation of the ascending aorta. The cardioprotective effect of the drug was shown due to its positive chronotropic action rather than its inotropic one. Thus, SV may be used as an effective drug for the prevention and treatment of postinfarct cardiac dysfunctions.
Abdel-Salam, Ghada M H; Miyake, Noriko; Eid, Maha M; Abdel-Hamid, Mohamed S; Hassan, Nihal A; Eid, Ola M; Effat, Laila K; El-Badry, Tarek H; El-Kamah, Ghada Y; El-Darouti, Mohamed; Matsumoto, Naomichi
The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth retardation, microcephaly with abnormal gyral pattern and partial agenesis of corpus callosum, and skeletal anomalies reminiscent of those described in MOPD type I. This was confirmed by the identification of the homozygous g.55G > A mutation of RNU4ATAC encoding U4atac snRNA. The sibs had yellowish-gray hair, fair skin, and deficient retinal pigmentation. Skin biopsy showed abnormal melanin function but OCA genes were normal. The older sib had an intracranial hemorrhage at 1 week after birth, the younger developed chilblains-like lesions at the age 2½ years old but analysis of the SAMHD1 and TREX1 genes did not show any mutations. To the best of our knowledge, vasculopathy and pigmentary disorders have not been reported in MOPD I. Copyright © 2011 Wiley Periodicals, Inc.
Kofuji, Takefumi; Hayashi, Yuko; Fujiwara, Tomonori; Sanada, Masumi; Tamaru, Masao; Akagawa, Kimio
Autism spectrum disorder (ASD) is highly heritable and encompasses a various set of neuropsychiatric disorders with a wide-ranging presentation. HPC-1/syntaxin1A (STX1A) encodes a neuronal plasma membrane protein that regulates the secretion of neurotransmitters and neuromodulators. STX1A gene ablated mice (null and heterozygote mutant) exhibit abnormal behavioral profiles similar to human autistic symptoms, accompanied by reduction of monoamine secretion. To determine whether copy number variation of STX1A gene and the change of its expression correlate with ASD as in STX1A gene ablated mice, we performed copy number assay and real-time quantitative RT-PCR using blood or saliva samples from ASD patients. We found that some ASD patients were haploid for the STX1A gene similar to STX1A heterozygote mutant mice. However, copy number of STX1A gene was normal in the parents and siblings of ASD patients with STX1A gene haploidy. In ASD patients with gene haploidy, STX1A mRNA expression was reduced to about half of their parents. Thus, a part of ASD patients had haploidy of STX1A gene and lower STX1A gene expression. Copyright © 2017 Elsevier B.V. All rights reserved.
Yager, Joel; Katzman, Jeffrey W
Although meetings are central to organizational work, considerable time devoted to meetings in Academic Health Centers appears to be unproductively spent. The primary purposes of this article are to delineate and describe Meeting Disorders, pathological processes resulting in these inefficient and ineffective scenarios, and Meeting Fatigue Disorder (MFD), a clinical syndrome. The paper also offers preliminary approaches to remedies. The authors integrate observations made during tens of thousands of hours in administrative meetings in academic medical settings with information in the literature regarding the nature, causes and potential interventions for dysfunctional groups and meetings. Meeting Disorders, resulting from distinct pathologies of leadership and organization, constitute prevalent subgroups of the bureaucrapathologies, pathological conditions caused by dysfunctional bureaucratic processes that generate excesses of wasted time, effort, and other resources. These disorders also generate frustration and demoralization among participants, contributing to professional burnout. Meeting Fatigue Disorder (MFD) is a subjective condition that develops in individuals who overdose on these experiences and may reflect one manifestation of burnout. Meeting disorders and Meeting Fatigue Disorder occur commonly in bureaucratic life. Resources and potential remedies are available to help ameliorate their more deleterious effects.
A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...
... disorders are rarely caused by a lack of intelligence. Language disorders are different than delayed language. With ... 2018, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM ...
Huppke, Peter; Brendel, Cornelia; Kalscheuer, Vera
or compound heterozygous mutations for all affected subjects in SLC33A1 encoding a highly conserved acetylCoA transporter (AT-1) required for acetylation of multiple gangliosides and glycoproteins. The mutations were found to cause reduced or absent AT-1 expression and abnormal intracellular localization...
Full Text Available Anxiety disorders are highly prevalent among children and are associated with serious morbidity. Lifetime prevalence of paediatric anxiety disorders is about fifteen percent. Social phobia, generalized anxiety disorder and separation anxiety disorder are included in the triad of paediatric anxiety disorders. Specific phobia, obsessive compulsive disorder and post-traumatic stress disorder are also commonly seen in children. Overprotection by parents, parental death or separation, female sex, low educational status, family history of anxiety disorder, financial stress in family and adverse childhood experiences are risk factors for the development of anxiety disorders. If not diagnosed and managed at the earliest, paediatric anxiety disorders can cause life threatening problems in the future. Hence early and scientific management of anxiety disorders is essential. Cognitive behavioural therapy is the effective evidence based treatment for paediatric anxiety disorders.
Saito, Yoshiaki; Aoki, Yusuke; Takeshita, Eri; Saito, Takashi; Sugai, Kenji; Komaki, Hirofumi; Nakagawa, Eiji; Ishiyama, Akihiko; Takanoha, Satoko; Wada, Satoru; Sasaki, Masayuki
To describe the characteristics of hypophosphatemia in severely disabled individuals with neurological disorders and to identify its causative factors. We retrospectively reviewed clinical data from 82 individuals with motor skills classified as sitting, rollover or bedridden. Age, gender and body mass index were compared in individuals with (n=19) and without (n=63) a history of hypophosphatemia (serum phosphate levels refeeding syndrome (n=4) and Fanconi syndrome (n=3), but was unidentifiable in one episode. Significant elevations in C-reactive protein levels and reductions in sodium levels were observed during hypophosphatemia episodes. Hypophosphatemia is a common complication in severely disabled individuals with frequent bacterial infections, refeeding following malnutrition and valproate administration for epilepsy treatment. Because severe hypophosphatemia is life threatening, serum phosphate levels should be closely monitored in this population. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Li, Tian-Fu; Wu, Qiu-Yue; Zhang, Cui; Li, Wei-Wei; Zhou, Qing; Jiang, Wei-Jun; Cui, Ying-Xia; Xia, Xin-Yi; Shi, Yi-Chao
46,XX testicular disorder of sex development is a rare genetic syndrome, characterized by a complete or partial mismatch between genetic sex and phenotypic sex, which results in infertility because of the absence of the azoospermia factor region in the long arm of Y chromosome. We report a case of a 14-year-old male with microorchidism and mild bilateral gynecomastia who referred to our hospital because of abnormal gender characteristics. The patient was treated for congenital scrotal type hypospadias at the age of 4 years. Semen analysis indicated azoospermia by centrifugation of ejaculate. Levels of follicle-stimulating hormone and luteinizing hormone were elevated, while that of testosterone was low and those of estradiol and prolactin were normal. The results of gonadal biopsy showed hyalinization of the seminiferous tubules, but there was no evidence of spermatogenic cells. Karyotype analysis of the patient confirmed 46,XX karyotype and fluorescent in situ hybridization analysis of the sex-determining region Y (SRY) gene was negative. Molecular analysis revealed that the SRY gene and the AZFa, AZFb and AZFc regions were absent. No mutation was detected in the coding region and exon/intron boundaries of the RSPO1, DAX1, SOX9, SOX3, SOX10, ROCK1, and DMRT genes, and no copy number variation in the whole genome sequence was found. This study adds a new case of SRY-negative 46,XX testicular disorder of sex development and further verifies the view that the absence of major regions from the Y chromosome leads to an incomplete masculine phenotype, abnormal hormone levels and infertility. To date, the mechanisms for induction of testicular tissue in 46,XX SRY-negative patients remain unknown, although other genetic or environmental factors play a significant role in the regulation of sex determination and differentiation.
S. M. Njiro
Full Text Available Two hundred and thirty-nine cattle from Gauteng Province in South Africa were tested for various pathogens causing reproductive diseases including bovine viral diarrhoea/mucosal disease (BVD/MD virus, infectious bovine rhinotracheitis/infectious pustular vulvovaginitis (IBR/IPV virus, Neospora caninum and Brucella abortus using various tests. For BVD/MD virus, 49.37 % tested positive, 74.47 % for IBR/IPV virus, 8.96 % for Neospora caninum and 3.8 % for Brucella abortus. The result for Brucella abortus is higher than the national average, possibly due to the small sample size. A high seroprevalence of antibodies to both BVD/MD virus and IBR/IPV virus was evident. These 2 viruses should be considered, in addition to Brucella abortus, when trying to establish causes of abortion in cattle. The clinical significance of Neospora caninum as a cause of abortion in Gauteng needs further investigation. One hundred and forty-three bulls were tested for Campylobacter fetus and Trichomonas fetus, and a low prevalence of 1.4 % and 2.1 % respectively was found in this study. The clinical implications of these findings are discussed.
To investigate if effort-reward imbalance (ERI) and overcommitment (OC) are associated with all-cause and mental disorder long-term sick leave (LS), and to identify differences in associations between genders, private versus public sector employees and socioeconomic status groups. The study uses a cross-sectional case-control design with a sample of 3477 persons on long-term sick leave of more than 59 days and a control group of 2078 in employment. Data on sick leave originate from social insurance registers, while data on health, working and living conditions were gathered through a survey. The binary logistic regression was used to test the multivariate associations. Effort-reward imbalance was associated with all-cause LS among the women (odds ratio (OR) = 1.58, 95% CI: 1.2-2.08), but not among the men. Associations for mental disorder LS were evident for both ERI and OC among both genders (ERI/OC: women OR = 2.76/2.82; men OR = 2.18/2.92). For the men these associations were driven by high effort, while for the women it was low job esteem in public sector and low job security in private sector. Among the highly educated women, ERI was strongly related to mental disorder LS (OR = 6.94, 95% CI: 3.2-15.04), while the highly educated men seemed to be strongly affected by OC for the same outcome (OR = 5.79, 95% CI: 1.48-22.57). The study confirmed the independent roles of ERI and OC for LS, with stronger associations among the women and for mental disorders. The ERI model is a promising tool that can contribute to understanding the prevailing gender gap in sick leave and increasing sick leave due to mental disorders. Int J Occup Med Environ Health 2016;29(6):973-989. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.
Specific Language Impairment, Nonverbal IQ, Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, Cochlear Implants, Bilingualism, and Dialectal Variants: Defining the Boundaries, Clarifying Clinical Conditions, and Sorting Out Causes.
Rice, Mabel L
The purpose of this research forum article is to provide an overview of a collection of invited articles on the topic "specific language impairment (SLI) in children with concomitant health conditions or nonmainstream language backgrounds." Topics include SLI, attention-deficit/hyperactivity disorder, autism spectrum disorder, cochlear implants, bilingualism, and dialectal language learning contexts. The topic is timely due to current debates about the diagnosis of SLI. An overarching comparative conceptual framework is provided for comparisons of SLI with other clinical conditions. Comparisons of SLI in children with low-normal or normal nonverbal IQ illustrate the unexpected outcomes of 2 × 2 comparison designs. Comparative studies reveal unexpected relationships among speech, language, cognitive, and social dimensions of children's development as well as precise ways to identify children with SLI who are bilingual or dialect speakers. The diagnosis of SLI is essential for elucidating possible causal pathways of language impairments, risks for language impairments, assessments for identification of language impairments, linguistic dimensions of language impairments, and long-term outcomes. Although children's language acquisition is robust under high levels of risk, unexplained individual variations in language acquisition lead to persistent language impairments.
Chouinard, S.; Ford, B.
BACKGROUND—Tic disorders presenting during adulthood have infrequently been described in the medical literature. Most reports depict adult onset secondary tic disorders caused by trauma, encephalitis, and other acquired conditions. Only rare reports describe idiopathic adult onset tic disorders, and most of these cases represent recurrent childhood tic disorders. OBJECTIVE—To describe a large series of patients with tic disorders presenting during adulthood, to compare cl...
Metsu, Sofie; Rainger, Jacqueline K; Debacker, Kim; Bernhard, Birgitta; Rooms, Liesbeth; Grafodatskaya, Daria; Weksberg, Rosanna; Fombonne, Eric; Taylor, Martin S; Scherer, Stephen W; Kooy, R Frank; FitzPatrick, David R
We report de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A in a male with an autistic spectrum disorder (ASD) due to a CGG-repeat expansion mutation (∼450 repeats) in a 5' intron of ZNF713. This expanded allele showed hypermethylation of the adjacent CpG island with reduced ZNF713 expression observed in a proband-derived lymphoblastoid cell line (LCL). His unaffected mother carried an unmethylated premutation (85 repeats). This CGG-repeat showed length polymorphism in control samples (five to 22 repeats). In a second unrelated family, three siblings with ASD and their unaffected father were found to carry FRA7A premutations, which were partially or mosaically methylated. In one of the affected siblings, mitotic instability of the premutation was observed. ZNF713 expression in LCLs in this family was increased in three of these four premutation carriers. A firm link cannot yet be established between ASD and the repeat expansion mutation but plausible pathogenic mechanisms are discussed. © 2014 WILEY PERIODICALS, INC.
Lin, Chen-Cheng; Tung, Che-Se; Lin, Pin-Hsuan; Huang, Chuen-Lin; Liu, Yia-Ping
Central catecholamines regulate fear memory across the medial prefrontal cortex (mPFC), amygdala (AMYG), and hippocampus (HPC). However, inadequate evidence exists to address the relationships among these fear circuit areas in terms of the fear symptoms of posttraumatic stress disorder (PTSD). By examining the behavioral profile in a Pavlovian fear conditioning paradigm together with tissue/efflux levels of dopamine (DA) and norepinephrine (NE) and their reuptake abilities across the fear circuit areas in rats that experienced single prolonged stress (SPS, a rodent model of PTSD), we demonstrated that SPS-impaired extinction retrieval was concomitant with the changes of central DA/NE in a dissociable manner. For tissue levels, diminished DA and increased NE were both observed in the mPFC and AMYG. DA efflux and synaptosomal DA transporter were consistently reduced in the AMYG/vHPC, whereas SPS reduced NE efflux in the infralimbic cortex and synaptosomal NE transporter in the mPFC. Furthermore, a lower expression of synaptosomal VMAT2 was observed in the mPFC, AMYG, and vHPC after SPS. Finally, negative correlations were observed between retrieval freezing and DA in the mPFC/AMYG; nevertheless, the phenomena became invalid after SPS. Our results suggest that central catecholamines are crucially involved in the retrieval of fear extinction in which DA and NE play distinctive roles across the fear circuit areas. Copyright © 2016 Elsevier B.V. and ECNP. All rights reserved.
... disease Crohn's disease Infections Intestinal cancer Intestinal obstruction Irritable bowel syndrome Ulcers, such as peptic ulcer Treatment of disorders of the small intestine depends on the cause.
Sonuga-Barke, Edmund J S
Historians of science continue to debate the importance of individual inspiration and personal creativity as fuel in the engine of scientific progress. While true that, in general, scientific knowledge advances cautiously by careful experimentation, painstaking observation and the gradual accumulation of evidence occasionally a field of enquiry can be revolutionised by a single, perhaps simple, yet inspired and profound insight. Such breakthroughs are most likely to occur when an individual moves outside the intellectual tramlines that normally constrain scientific thinking, leaving them able to look at old evidence in new and original ways. The reception of such original insights by the research community varies considerably, of course. Some insights may be 'too original'--a step too far in what is normally an incremental journey of discovery. Some ideas, enthusiastically accepted initially, may burn out before making any real impression. Other ideas revolutionize a field--producing a cascade of hypotheses and lines of enquiry that lead to new discoveries which permanently change the scientific landscape. The issue of scientific creativity was very much in my mind when reading through the papers slated to appear in the current journal number. One article in particular, by Pannekoeke and colleagues on intrinsic brain organisation in depressed adolescents, initiated a chain of thought that led me to my focus for this editorial. A development that provides perhaps the most compelling recent example of the transformative power of individual inspiration in the field of cognitive neuroscience--a development which is also beginning to have profound implications for models of childhood mental disorders. © 2014 Association for Child and Adolescent Mental Health.
Problems with the penis can cause pain and affect a man's sexual function and fertility. Penis disorders include Erectile dysfunction - inability to get or ... not go away Peyronie's disease - bending of the penis during an erection due to a hard lump ...
Temporomandibular joint, or TMJ, dysfunction, can be a cause of secondary headache. Secondary headaches result from underlying disorders which produce pain as a symptom. The TMJ may become painful and dysfunctional as a result ...
... be delayed. But because this disorder causes bone maturity to be delayed, growth sometimes continues into the ... mild intellectual disability A wide range of mental, emotional and behavioral issues that are usually mild Hearing ...
Klouwer, Femke C. C.; Huffnagel, Irene C.; Ferdinandusse, Sacha; Waterham, Hans R.; Wanders, Ronald J. A.; Engelen, Marc; Poll-The, Bwee Tien
Peroxisomal disorders are a heterogeneous group of genetic metabolic disorders, caused by a defect in peroxisome biogenesis or a deficiency of a single peroxisomal enzyme. The peroxisomal disorders include the Zellweger spectrum disorders, the rhizomelic chondrodysplasia punctata spectrum disorders,
Controlled Low-Pressure Blast-Wave Exposure Causes Distinct Behavioral and Morphological Responses Modelling Mild Traumatic Brain Injury, Post-Traumatic Stress Disorder, and Comorbid Mild Traumatic Brain Injury-Post-Traumatic Stress Disorder.
Zuckerman, Amitai; Ram, Omri; Ifergane, Gal; Matar, Michael A; Sagi, Ram; Ostfeld, Ishay; Hoffman, Jay R; Kaplan, Zeev; Sadot, Oren; Cohen, Hagit
The intense focus in the clinical literature on the mental and neurocognitive sequelae of explosive blast-wave exposure, especially when comorbid with post-traumatic stress-related disorders (PTSD) is justified, and warrants the design of translationally valid animal studies to provide valid complementary basic data. We employed a controlled experimental blast-wave paradigm in which unanesthetized animals were exposed to visual, auditory, olfactory, and tactile effects of an explosive blast-wave produced by exploding a thin copper wire. By combining cognitive-behavioral paradigms and ex vivo brain MRI to assess mild traumatic brain injury (mTBI) phenotype with a validated behavioral model for PTSD, complemented by morphological assessments, this study sought to examine our ability to evaluate the biobehavioral effects of low-intensity blast overpressure on rats, in a translationally valid manner. There were no significant differences between blast- and sham-exposed rats on motor coordination and strength, or sensory function. Whereas most male rats exposed to the blast-wave displayed normal behavioral and cognitive responses, 23.6% of the rats displayed a significant retardation of spatial learning acquisition, fulfilling criteria for mTBI-like responses. In addition, 5.4% of the blast-exposed animals displayed an extreme response in the behavioral tasks used to define PTSD-like criteria, whereas 10.9% of the rats developed both long-lasting and progressively worsening behavioral and cognitive "symptoms," suggesting comorbid PTSD-mTBI-like behavioral and cognitive response patterns. Neither group displayed changes on MRI. Exposure to experimental blast-wave elicited distinct behavioral and morphological responses modelling mTBI-like, PTSD-like, and comorbid mTBI-PTSD-like responses. This experimental animal model can be a useful tool for elucidating neurobiological mechanisms underlying the effects of blast-wave-induced mTBI and PTSD and comorbid mTBI-PTSD.
Few psychological disorders in the Diagnostic Statistical Manual have generated as much controversy as Dissociative Identity Disorder (DID). For the past 35 years diagnoses of DID, previously referred to as Multiple Personality Disorder (MPD), have increased exponentially, causing various psychological researchers and clinicians to question the…
... Registry Residents & Medical Students Residents Medical Students Patients & Families Mental Health Disorders/Substance Use Find a Psychiatrist Addiction and Substance Use Disorders ADHD Anxiety Disorders Autism Spectrum Disorder Bipolar Disorders Depression Eating Disorders Obsessive-Compulsive ...
Dixon-Douglas, Julia; Burgess, John; Dreyer, Michael
Hypothalamic involvement in multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) is rare and endocrinopathies involving the hypothalamic-pituitary axis in patients with demyelinating conditions have rarely been reported. We present two cases of MS/NMOSD with associated hypothalamic-pituitary involvement and subsequent hypopituitarism, including the first report of a patient with hypothalamic demyelination causing panhypopituitarism. Differential diagnoses, including alemtuzumab-related and primary pituitary pathology are discussed. © 2018 Royal Australasian College of Physicians.
... or do not improve with treatment Thoughts of suicide or of harming others Alternative Names Mood disorder - schizoaffective disorder; Psychosis - schizoaffective disorder Images Schizoaffective disorder ...
Olesen, C G; Nielsen, Rasmus Gottschalk N; Rathleff, Michael Skovdal
Excessive pronation could be an inborn abnormality or an acquired foot disorder caused by overuse, inadequate supported shoes or inadequate foot training. When the muscles and ligaments of the foot are insufficient it can cause an excessive pronation of the foot. The current treatment consist of ...
Emiliussen, Jakob; Nielsen, Anette Søgaard; Andersen, Kjeld
the studies. The results of this review are generally inconclusive. In spite of the low quality scores, we did find that chronic stress, role/identity loss and friends approval of drinking, was associated with an increased risk for late-onset AUD whereas retirement, death of spouse or close relative does...
... ulcer. How do H. pylori cause a peptic ulcer and peptic ulcer disease? H. pylori are spiral-shaped bacteria that ... peptic ulcer. How do tumors from ZES cause peptic ulcers? Zollinger-Ellison syndrome is a rare disorder that ...
... Sjogren's syndrome last year, I've had three urinary tract infections. Is there any evidence that Sjogren's syndrome causes ... cause symptoms that you might mistake for a urinary tract infection (UTI). Sjogren's syndrome is an autoimmune disorder in ...
... only after another family member has been diagnosed. Autism Spectrum Disorder and Fragile X Syndrome Fragile X syndrome is ... gene cause of ASD What Is Autism Spectrum Disorder? Autism spectrum disorder (ASD) is a behavioral diagnosis. The range ...
Murthy, G.; Hargens, A. R.; Lehman, S.; Rempel, D.
Muscle fatigue is a common musculoskeletal disorder in the work place, and may be a harbinger for more disabling cumulative trauma disorders. Although the cause of fatigue is multifactorial, reduced blood flow and muscle oxygenation may be the primary factor in causing muscle fatigue during low intensity muscle exertion. Muscle fatigue is defined as a reduction in muscle force production, and also occurs among astronauts who are subjected to postural constraints while performing lengthy, repetitive tasks. The objectives of this research are to: 1) develop an objective tool to study the role of decreased muscle oxygenation on muscle force production, and 2) to evaluate muscle fatigue during prolonged glovebox work.
Schlottmann, Francisco; Patti, Marco G.
The best-defined primary esophageal motor disorder is achalasia. However, symptoms such as dysphagia, regurgitation and chest pain can be caused by other esophageal motility disorders. The Chicago classification introduced new manometric parameters and better defined esophageal motility disorders. Motility disorders beyond achalasia with the current classification are: esophagogastric junction outflow obstruction, major disorders of peristalsis (distal esophageal spasm, hypercontractile esoph...
Obsessive-compulsive disorder is a common and often chronic psychiatric illness that significantly interferes with the patient´s functioning and quality of life. The disorder is characterized by excessive intrusive and inappropriate anxiety evoking thoughts as well as time consuming compulsions that cause significant impairment and distress. The symptoms are often accompanied by shame and guilt and the knowledge of the general public and professional community about the disorder is limited. Hence it is frequently misdiagnosed or diagnosed late. There are indications that the disorder is hereditary and that neurobiological processes are involved in its pathophysiology. Several psychological theories about the causes of obsessive-compulsive disorder are supported by empirical evidence. Evidence based treatment is either with serotoninergic medications or cognitive behavioral therapy, particularly a form of behavioral therapy called exposure response prevention. Better treatment options are needed because almost a third of people with obsessive-compulsive disorder respond inadequatly to treatment. In this review article two cases of obsessive-compulsive disorder are presented. The former case is a young man with typical symptoms that respond well to treatment and the latter is a middle aged lady with severe treatment resistant symptoms. She underwent stereotactic implantation of electrodes and received deep brain stimulation, which is an experimental treatment for severe obsessive-compulsive disorder that does not respond to any conventional treatment. Landspitali University Hospital, Division of Psychiatry. Faculty of Medicine, University of Iceland.
Klatte, Julia; Vulink, Nienke; Kemperman, Patrick
Body dysmorphic disorder (BDD) is a mental disorder by which the patient is obsessed with a perceived or minor defect in appearance, usually affecting the skin, hair, or nose, a defect hardly or not seen by others. This obsession can cause severe suffering and suicidality. Most patients consult a
... Español (Spanish) Recommend on Facebook Tweet Share Compartir Autism spectrum disorder (ASD) is a developmental disability that can cause ... work. Autism: What's New MMWR article: Prevalence of Autism Spectrum Disorder Data Community Report Press release: Autism Prevalence Slightly ...
... Cushing's syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born unable to make enough cortisol. Causes of adrenal gland disorders include Genetic mutations Tumors ...
This podcast discusses autism spectrum disorder (ASD), a developmental disability that causes problems with social, communication, and behavioral skills. CDC estimates that one in 68 children has been identified as having ASD.
Alcohol can harm your baby at any stage during a pregnancy. That includes the earliest stages, before ... can cause a group of conditions called fetal alcohol spectrum disorders (FASDs). Children who are born with ...
... enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to ... often be helped. Deafness can keep you from hearing sound at all. What causes hearing loss? Some ...
... a death in the family may cause a child to act out. Behavior disorders are more serious. ... The behavior is also not appropriate for the child's age. Warning signs can include Harming or threatening ...
Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim
According to the American Heart Association, cardiomyopathies are classified as primary (solely or predominantly confined to heart muscle), secondary (those showing pathological myocardial involvement as part of a neuromuscular disorder) and those in which cardiomyopathy is the first/predominant manifestation of a neuromuscular disorder. Cardiomyopathies may be further classified as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or unclassified cardiomyopathy (noncompaction, Takotsubo-cardiomyopathy). This review focuses on secondary cardiomyopathies and those in which cardiomyopathy is the predominant manifestation of a myopathy. Any of them may cause neurological disease, and any of them may be a manifestation of a neurological disorder. Neurological disease most frequently caused by cardiomyopathies is ischemic stroke, followed by transitory ischemic attack, syncope, or vertigo. Neurological disease, which most frequently manifests with cardiomyopathies are the neuromuscular disorders. Most commonly associated with cardiomyopathies are muscular dystrophies, myofibrillar myopathies, congenital myopathies and metabolic myopathies. Management of neurological disease caused by cardiomyopathies is not at variance from the same neurological disorders due to other causes. Management of secondary cardiomyopathies is not different from that of cardiomyopathies due to other causes either. Patients with neuromuscular disorders require early cardiologic investigations and close follow-ups, patients with cardiomyopathies require neurological investigation and avoidance of muscle toxic medication if a neuromuscular disorder is diagnosed. Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations. Copyright © 2013 Elsevier Inc. All rights reserved.
Mena, Ismael; Correa, Rodrigo; Nader, Armando
We report NeuroSPECT findings in mood disorders, including bipolar disorder, major depression and self-mutilation. We compare results in 29 patients with bipolar disorder complicated by self-mutilation, a group of 20 patients with bipolar disorder uncomplicated and 22 patients with mayor depression uncomplicated by self-mutilation. Among the NeuroSPECT findings we report the association of mood disorders and self-mutilation with hyper perfusion of the anterior-dorsal-ventral segment of both thalami concomitant with hypoperfusion in perilimbic cortex, namely areas 32, 24 (anterior cingulate gyrus) and 23 of Brodmann. Multiple reports in the literature relate both, in animals and man, self-mutilation with phenomena of hypoalghesia, anesthesia, or dysestesias and are the basis for our hypothesis linking dysfunction of limbic-thalamic circuits, associated with nocioceptive fibers, somato-psychic consciousness and self-mutilation phenomena
Acar, Sezer; Demir, Korcan; Shi, Yufei
Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B). The second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets) due to impairment in renal tubular phosphate reabsorption as a result of FGF23-related or FGF23-independent causes. In this review, we focus on clinical, laboratory and genetic characteristics of various types of hereditary rickets as well as differential diagnosis and treatment approaches. PMID:29280738
Increased mortality among patients admitted with major psychiatric disorders: a register-based study comparing mortality in unipolar depressive disorder, bipolar affective disorder, schizoaffective disorder, and schizophrenia
Laursen, Thomas Munk; Munk-Olsen, Trine; Nordentoft, Merete
disorder has never been examined in a population-based study. OBJECTIVE: Our objective was to examine and compare mortality rates after admission with schizophrenia, schizoaffective disorder, unipolar depressive disorder, or bipolar affective disorder and to examine the impact of family history......: Unipolar depressive disorder, bipolar affective disorder, and schizoaffective disorder were associated with the same pattern of excess mortality. Schizophrenia had a lower mortality from unnatural causes of death and a higher mortality from natural causes compared to the 3 other disorders. Family history...
Afolabi, Kola; Ali, Sameer; Gahtan, Vivian; Gorji, Reza; Li, Fenghua; Nussmeier, Nancy A
Conversion disorder is a psychiatric disorder in which psychological stress causes neurologic deficits. A 28-year-old female surgical patient had uneventful general anesthesia and emergence but developed conversion disorder 1 hour postoperatively. She reported difficulty speaking, right-hand numbness and weakness, and right-leg paralysis. Neurologic examination and imaging revealed no neuronal damage, herniation, hemorrhage, or stroke. The patient mentioned failing examinations the day before surgery and discontinuing her prescribed antidepressant medication, leading us to diagnose conversion disorder, with eventual confirmation by neuroimaging and follow-up examinations. Copyright © 2016 Elsevier Inc. All rights reserved.
Pike, Kathleen M.; Hoek, Hans W.; Dunne, Patricia E.
Purpose of review Culture has long been recognized as significant to the cause and expression of eating disorders. We reviewed the recent literature about recent trends in the occurrence of eating disorders in different cultures. Recent findings While historically, eating disorders were
Pike, Kathleen M.; Hoek, Hans W.; Dunne, Patricia E.
Purpose of review Culture has long been recognized as significant to the cause and expression of eating disorders. We reviewed the recent literature about recent trends in the occurrence of eating disorders in different cultures. Recent findings While historically, eating disorders were
Autism Spectrum Disorders May Be Due to Cerebral Toxoplasmosis Associated with Chronic Neuroinflammation Causing Persistent Hypercytokinemia that Resulted in an Increased Lipid Peroxidation, Oxidative Stress, and Depressed Metabolism of Endogenous and Exogenous Substances
Worldwide, approximately 2 billion people are chronically infected with "Toxoplasma gondii" with largely yet unknown consequences. Patients with autism spectrum disorders (ASD) similarly as mice with chronic toxoplasmosis have persistent neuroinflammation, hypercytokinemia with hypermetabolism associated with enhanced lipid peroxidation, and…
Full Text Available Berit Kerner Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA Abstract: Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are
Demarin, Vida; Bašić Kes, Vanja
Migraine headache and temporomandibular disorders show significant overlap in the area or distribution of pain, the gender prevalence and age distribution. Temporomandibular disorders may cause headaches per se, worsen existent primary headaches, and add to the burden of headache disorders. The patients with combined migraine and tension-type headaches had a higher prevelance of temporomandibular disorders. Evidence supporting a close relationship include the increased masticatory...
Science Teacher, 2005
Johns Hopkins researchers at the Wilmer Eye Institute have discovered what appears to be the first human gene mutation that causes extreme farsightedness. The researchers report that nanophthalmos, Greek for "dwarf eye," is a rare, potentially blinding disorder caused by an alteration in a gene called MFRP that helps control eye growth and…
... of-control eating Women are more likely than men to have eating disorders. They usually start in the teenage years and often occur along with depression, anxiety disorders, and substance abuse. Eating disorders can ...
... Application Process Managing Grants Clinical Research Training Small Business Research Labs at NIMH Labs at NIMH Home Research ... About Eating Disorders More Publications About Eating Disorders Research Results PubMed: Journal Articles about Eating Disorders Contact Us The National ...
... Disorders in Adults Data Sources Share Personality Disorders Definitions Personality disorders represent “an enduring pattern of inner ... MSC 9663 Bethesda, MD 20892-9663 Follow Us Facebook Twitter YouTube Google Plus NIMH Newsletter NIMH RSS ...
... variations in brain chemistry and structure. Risk factors Factors that increase the risk of developing schizoaffective disorder include: Having a close blood relative who has schizoaffective disorder, schizophrenia or bipolar disorder Stressful events that trigger symptoms ...
... 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 . ...
Deniz Tuncel; Fatma Özlem Orhan
Hunger is an awakening related biological impulse. The relationship between hunger and sleep is moderated by the control of homeostatic and circadian rhytms of the body. Abnormal eating behavior during sleep period could result from different causes. Abnormal eating during the main sleep period has been categorized as either night eating syndrome or sleep related eating disorder. Night eating syndrome (NES) is an eating disorder characterised by the clinical features of morning anorexia, even...
M V Padma Srivastav
Full Text Available The causes of hypersomnia or excessive daytime sleepiness (EDS besides volitionalsleep deprivation and obstructive sleep apnea are principally due to primary centralnervous system abnormalities. Most common amongst these is Narcolepsy, a primarydisorder of the neural control of wakefulness and sleep. The recent discovery ofhypocretin/orexin deficiency as the main cause of narcolepsy will lead to importanttherapeutic advances for patients with narcolepsy and further to understanding of thecontrol of sleep and wakefulness in general. Importantly, the excessive daytimesleepiness is not due to psychiatric conditions, but rather is always due to sleepdeprivation or an underlying diagnosable and treatable sleep disorder.Key words : EDS, Sleep, Narcolepsy
Mølgaard, Carsten Møller; Olesen Gammelgaard, Christian; Nielsen, R. G.
Excessive pronation could be an inborn abnormality or an acquired foot disorder caused by overuse, inadequate supported shoes or inadequate foot training. When the muscles and ligaments of the foot are insufficient it can cause an excessive pronation of the foot. The current treatment consist...... of antipronation shoes or insoles, which latest was studied by Kulce DG., et al (2007). So far there have been no randomized controlled studies showing methods that the effect of this treatment has not been documented. Therefore the authors can measure the effect of treatments with insoles. Some of the excessive...
Paolacci, Stefano; Bertola, Debora; Franco, José; Mohammed, Shehla; Tartaglia, Marco; Wollnik, Bernd; Hennekam, Raoul C.
Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature
Robinson-Shelton, Althea; Malow, Beth A
Sleep disturbances are extremely prevalent in children with neurodevelopmental disorders compared to typically developing children. The diagnostic criteria for many neurodevelopmental disorders include sleep disturbances. Sleep disturbance in this population is often multifactorial and caused by the interplay of genetic, neurobiological and environmental overlap. These disturbances often present either as insomnia or hypersomnia. Different sleep disorders present with these complaints and based on the clinical history and findings from diagnostic tests, an appropriate diagnosis can be made. This review aims to provide an overview of causes, diagnosis, and treatment of sleep disturbances in neurodevelopmental disorders that present primarily with symptoms of hypersomnia and/or insomnia.
Repo-Tiihonen, Eila; Hallikainen, Tero
Antisocial personality disorder (ASP), especially psychopathy as its extreme form, has provoked fear and excitement over thousands of years. Ruthless violence involved in the disorder has inspired scientists, too.The abundance of research results concerning epidemiology, physiology, neuroanatomy, heritability, and treatment interventions has made ASP one of the best documented disorders in psychiatry. Numerous interventions have been tested, but there is no current treatment algorithm. Biological and sociological parameters indicate the importance of early targeted interventions among the high risk children. Otherwise, as adults they cause the greatest harm. The use of medications or psychotherapy for adults needs careful consideration.
Vis, Jeroen C.; van Engelen, Klaartje; Bouma, Berto J.; Bilardo, Catia M.; Blom, Nico A.; Mulder, Barbara J. M.
Down syndrome is the most common chromosomal abnormality among liveborn infants and is the most frequent chromosomal cause of intellectual disability (Frid, Drott, Lundell, Rasmussen, & Anneren, 1999). It is a multisystem disorder, characterized by various congenital defects, organic disorders,
... Facebook Tweet Share Compartir Q: Do vaccines cause autism spectrum disorder (ASD)? A: Many studies that have looked at whether there is a relationship between vaccines and autism spectrum disorder (ASD). To date, the studies continue to show ...
It is meaningful to distinguish anxiety and depression both as symptoms and as syndromes ... disorder). Anxiety, as a symptom, is a feeling of apprehension caused by anticipation of danger ... disorder. In medical disorders or substance-.
Heavy menstrual bleeding (HMB) is a common problem in fertile women. In addition to local factors, such as a polyp or a uterine fibroid, systemic causes may lead to HMB. These systemic causes are discussed in this thesis. For years, women with HMB were tested underlying thyroid disorder, but our
This report presents final 2010 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements the Division of Vital Statistics' annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2010. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. In 2010, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Cerebrovascular diseases; Accidents (unintentional injuries); Alzheimer's disease; Diabetes mellitus; Nephritis, nephrotic syndrome and nephrosis; Influenza and pneumonia; and Intentional self-harm (suicide). These 10 causes accounted for 75% of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2010 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Necrotizing enterocolitis of newborn. Important variations in the leading causes of infant death are noted for the neonatal and post-neonatal periods. All material appearing in this report is in the public domain and may be reproduced or copied without permission; citation as to source
This report presents final 2012 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements "Deaths: Final Data for 2012," the National Center for Health Statistics' annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2012. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. In 2012, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Cerebrovascular diseases; Accidents (unintentional injuries); Alzheimer's disease; Diabetes mellitus; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Intentional self-harm (suicide). These causes accounted for 74% of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2012 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Neonatal hemorrhage. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods.
Bonello, M; Michael, B D; Solomon, T
A wide range of infections of the central nervous system are responsible for both acute seizures and epilepsy. The pathogenesis and clinical semiology of the seizure disorders vary widely between the infective pathogens. The exact mechanisms underlying this are poorly understood, but appear, at least in part, to relate to the pathogen; the degree of cortical involvement; delays in treatment; and the host inflammatory response. The treatment of infective causes of seizures involves both symptomatic treatment with antiepileptic drugs and direct treatment of the underlying condition. In many cases, early treatment of the infection may affect the prognosis of the epilepsy syndrome. The greatest burden of acute and long-term infection-related seizures occurs in resource-poor settings, where both clinical and research facilities are often lacking to manage such patients adequately. Nevertheless, education programs may go a long way toward addressing the stigma, leading to improved diagnosis, management, and ultimately to better quality of life. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
Hoekstra, PJ; Minderaa, RB
The precise cause of tic disorders and paediatric obsessive-compulsive disorder (OCD) is unknown. In addition to genetic factors, autoimmunity may play a role, possibly as a sequela of preceding streptococcal throat infections in susceptible children. Here we review the most recent findings, from
... the death of a loved one or parents' divorce) and major life transitions (like moving to a ... Ways to Deal With Anxiety Dealing With Difficult Emotions Anxiety Disorders Posttraumatic Stress Disorder Fears and Phobias ...
Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors ... serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and ...
... destructive lesions, but are sometimes the result of abnormal development. The disorder can occur before or after birth. Porencephaly most ... decade of life. SCHIZENCEPHALY is a rare developmental disorder characterized by abnormal slits, or clefts, in the cerebral hemispheres. Schizencephaly ...
... for Educators Search English Español Do Allergies Cause Asthma? KidsHealth / For Parents / Do Allergies Cause Asthma? Print ... son la causa del asma? Do Allergies Cause Asthma? Allergies don't cause asthma. But kids who ...
... as possibilities: Anxiety disorders Attention-deficit/hyperactivity disorder (ADHD) Bipolar disorder Depression Learning disorders Substance abuse disorders Treatment The best treatment for the child is to ...
... health illnesses Alcoholism, substance abuse, and addictive behavior Anxiety disorders Attention deficit hyperactivity disorder Bipolar disorder (manic depressive illness) Borderline personality disorder Depression Eating disorders Post-traumatic ...
Gucciardi, Enza; Celasun, Nalan; Ahmad, Farah; Stewart, Donna E
Abstract Health Issue Eating disorders are an increasing public health problem among young women. Anorexia and bulimia may give rise to serious physical conditions such as hypothermia, hypotension, electrolyte imbalance, endocrine disorders, and kidney failure. Key Issues Eating disorders are primarily a problem among women. In Ontario in 1995, over 90% of reported hospitalized cases of anorexia and bulimia were women. In addition to eating disorders, preoccupation with weight, body image and...
Schlottmann, Francisco; Patti, Marco G
The best-defined primary esophageal motor disorder is achalasia. However, symptoms such as dysphagia, regurgitation and chest pain can be caused by other esophageal motility disorders. The Chicago classification introduced new manometric parameters and better defined esophageal motility disorders. Motility disorders beyond achalasia with the current classification are: esophagogastric junction outflow obstruction, major disorders of peristalsis (distal esophageal spasm, hypercontractile esophagus, absent contractility) and minor disorders of peristalsis (ineffective esophageal motility, fragmented peristalsis). The aim of this study was to review the current diagnosis and management of esophageal motility disorders other than achalasia.
Metabolic, Immune, Epigenetic, Endocrine and Phenotypic Abnormalities Found in Individuals with Autism Spectrum Disorders, Down Syndrome and Alzheimer Disease May Be Caused by Congenital and/or Acquired Chronic Cerebral Toxoplasmosis
"Toxoplasma gondii" is a protozoan parasite that infects about a third of human population. It is generally believed that in immunocompetent hosts, the parasite infection takes usually asymptomatic course and induces self-limiting disease, but in immunocompromised individuals may cause significant morbidity and mortality. "T. gondii" uses sulfated…
Are degenerative rotator cuff disorders a cause of shoulder pain? Comparison of prevalence of degenerative rotator cuff disease to prevalence of nontraumatic shoulder pain through three systematic and critical reviews
Vincent, Karl; Leboeuf-Yde, Charlotte; Gagey, Olivier
Hypothesis and Background The role of degeneration is not well understood for rotator cuff pain. If age-related degenerative changes would be the cause of symptoms, degeneration would precede or concur with self-reported pain. We performed 3 systematic literature reviews. Our objectives were...
... enjoyment of life. Social anxiety disorder can cause: Low self-esteem Trouble being assertive Negative self-talk Hypersensitivity to criticism Poor social skills Isolation and difficult social relationships Low academic and employment achievement Substance abuse, such as ...
... scan also may show signs of pneumonia, a lung abscess, a tumor, or other possible causes of pleural disorders. Ultrasound This test uses sound waves to create pictures of your lungs. An ultrasound may show where fluid is located ...
... disorder; Voice disorders; Vocal disorders; Disfluency; Communication disorder - speech disorder; Speech disorder - stuttering ... evaluation tools that can help identify and diagnose speech disorders: Denver Articulation Screening Examination Goldman-Fristoe Test of ...
Hansen, Shana L; Capener, Dale; Daly, Christopher
Insufficient sleep duration and poor sleep quality are common among adolescents. The multidimensional causes of insufficient sleep duration and poor sleep quality include biological, health-related, environmental, and lifestyle factors. The most common direct consequence of insufficient and/or poor sleep quality is excessive daytime sleepiness, which may contribute to poor academic performance, behavioral health problems, substance use, and drowsy driving. Evaluation of sleepiness includes a detailed sleep history and sleep diary, with polysomnography only required for the assessment of specific sleep disorders. Management involves encouraging healthy sleep practices such as having consistent bed and wake times, limiting caffeine and electronics at night before bed, and eliminating napping, in addition to treating any existing sleep or medical disorders. [Pediatr Ann. 2017;46(9):e340-e344.]. Copyright 2017, SLACK Incorporated.
This report presents final 2011 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements ‘‘Deaths: Final Data for 2011,’’ the National Center for Health Statistics’ annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2011. Causes of death classified by the International Classification of Diseases, 10th Revision (ICD–10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. In 2011, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Cerebrovascular diseases; Accidents (unintentional injuries); Alzheimer’s disease; Diabetes mellitus; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Intentional self-harm (suicide). They accounted for 74% of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2011 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Neonatal hemorrhage. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods. All material appearing in this report is in the public domain and may be reproduced or copied without permission
Objectives-This report presents final 2015 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements "Deaths: Final Data for 2015," the National Center for Health Statistics' annual report of final mortality statistics. Methods-Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2015. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. Results-In 2015, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Accidents (unintentional injuries); Cerebrovascular diseases; Alzheimer's disease; Diabetes mellitus; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Intentional self-harm (suicide). They accounted for 74% of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2015 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Neonatal hemorrhage. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods. All material appearing in this report is in the public domain and may be reproduced or copied without
This report presents final 2013 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements "Deaths: Final Data for 2013," the National Center for Health Statistics’ annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2013. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD–10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. In 2013, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Accidents (unintentional injuries); Cerebrovascular diseases; Alzheimer’s disease; Diabetes mellitus; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Intentional self-harm (suicide). They accounted for 74% of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2013 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Newborn affected by maternal complications of pregnancy; Sudden infant death syndrome; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Neonatal hemorrhage. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods. All material appearing in this report is in the public domain and may be reproduced or copied without permission; citation as
This podcast discusses autism spectrum disorder (ASD), a developmental disability that causes problems with social, communication, and behavioral skills. CDC estimates that one in 68 children has been identified as having ASD. Created: 4/2/2014 by National Center on Birth Defects and Developmental Disabilities (NCBDDD). Date Released: 4/2/2014.
Costa e Silva, Jorge Alberto
Sleep is an active state that is critical for our physical, mental, and emotional well-being. Sleep is also important for optimal cognitive functioning, and sleep disruption results in functional impairment. Insomnia is the most common sleep disorder in psychiatry. At any given time, 50% of adults are affected with 1 or more sleep problems such as difficulty in falling or staying asleep, in staying awake, or in adhering to a consistent sleep/wake schedule. Narcolepsy affects as many individuals as does multiple sclerosis or Parkinson disease. Sleep problems are especially prevalent in schizophrenia, depression, and other mental illnesses, and every year, sleep disorders, sleep deprivation, and sleepiness add billions to the national health care bill in industrialized countries. Although psychiatrists often treat patients with insomnia secondary to depression, most patients discuss their insomnia with general care physicians, making it important to provide this group with clear guidelines for the diagnosis and management of insomnia. Once the specific medical, behavioral, or psychiatric causes of the sleep problem have been identified, appropriate treatment can be undertaken. Chronic insomnia has multiple causes arising from medical disorders, psychiatric disorders, primary sleep disorders, circadian rhythm disorders, social or therapeutic use of drugs, or maladaptive behaviors. The emerging concepts of sleep neurophysiology are consistent with the cholinergic-aminergic imbalance hypothesis of mood disorders, which proposes that depression is associated with an increased ratio of central cholinergic to aminergic neurotransmission. The characteristic sleep abnormalities of depression may reflect a relative predominance of cholinergic activity. Antidepressant medications presumably reduce rapid eye movement (REM) sleep either by their anticholinergic properties or by enhancing aminergic neurotransmission. Intense and prolonged dreams often accompany abrupt withdrawal
Soderberg, S F
Chronic vaginitis is the most common vaginal disorder. Dogs with vaginitis show no signs of systemic illness but often lick at the vulva and have purulent or hemorrhagic vaginal discharges. Vaginitis is most commonly secondary to a noninfectious inciting factor such as congenital vaginal anomalies, clitoral hypertrophy, foreign bodies, trauma to the vaginal mucosa, or vaginal tumors. Inspection of the caudal vagina and vestibule both visually and digitally will often reveal the source of vaginal irritation. Vaginal cytology is used to establish the stage of the estrous cycle as well as distinguish uterine from vaginal sources of discharge. Vaginal cultures are used to establish the predominant offending organism associated with vaginal discharges and may be used as a guide for selection of a therapeutic agent. Vaginitis is best managed by removing the inciting cause and treating the area locally with antiseptic douches. Congenital malformations at the vestibulovaginal or vestibulovulvar junction may prevent normal intromission. Affected bitches may be reluctant to breed naturally because of pain. Such defects are detected best by digital examination. Congenital vaginal defects may be corrected by digital or surgical means. Prolapse of tissue through the lips of the vulva may be caused by clitoral hypertrophy, vaginal hyperplasia, or vaginal tumors. Enlargement of clitoral tissue is the result of endogenous or exogenous sources of androgens. Treatment of this condition includes removal of the androgen source and/or surgical removal of clitoral tissue. Vaginal hyperplasia is detected during proestrus or estrus of young bitches. Hyperplastic tissue will regress during diestrus. Tissue that is excessively traumatized and/or prolapse of the entire vaginal circumference may be removed surgically. Ovariohysterectomy may be used to prevent recurrence. Vaginal tumors are detected most often in older intact bitches. Such tumors are generally of smooth muscle or fibrous
Cohen, N.D.; Chaffin, M.K.
There are numerous causes of colic in foals. Nearly all forms of obstructive gastrointestinal disorders that have been recognized in adultshave also been described in foals. Meconium impaction, intussusceptions, ascarid impactions, small intestinal volvulus, and hernias are evidently the most common causes of mechanical obstruction in foals. Other frequently recognized causes of colic in foals are gastric ulceration, uroperitoneum, and ileus. For some disorders, the history, signalment, and physical examination findings may lead to a presumptive diagnosis; in other disorders, ultrasonography and clinicopathologic examination of blood and peritoneal fluid may be required in the diagnostic evaluation. This article considers the causes of intestinal obstructionand abdominal pain in foals from birth to weaning
Martin, Neilson C.; Levy, Florence; Pieka, Jan; Hay, David A.
Attention Deficit Hyperactivity Disorder (ADHD) commonly co-occurs with Oppositional Defiant Disorder, Conduct Disorder and Reading Disability. Twin studies are an important approach to understanding and modelling potential causes of such comorbidity. Univariate and bivariate genetic models were fitted to maternal report data from 2040 families of…
Relapse after a first episode of schizophrenia is the recurrence of acute symptoms after a period of partial or complete remission. Due to its variable aspects, there is no operational definition of relapse able to modelise the outcome of schizophrenia and measure how the treatment modifies the disease. Follow-up studies based on proxys such as hospital admission revealed that 7 of 10 patients relapsed after a first episode of schizophrenia. The effectiveness of antipsychotic medications on relapse prevention has been widely demonstrated. Recent studies claim for the advantages of atypical over first generation antipsychotic medication. Non-adherence to antipsychotic represents with addictions the main causes of relapse long before some non-consensual factors such as premorbid functioning, duration of untreated psychosis and associated personality disorders. The consequences of relapse are multiple, psychological, biological and social. Pharmaco-clinical studies have demonstrated that the treatment response decreases with each relapse. Relapse, even the first one, will contribute to worsen the outcome of the disease and reduce the capacity in general functionning. Accepting the idea of continuing treatment is a complex decision in which the psychiatrist plays a central role besides patients and their families. The development of integrated actions on modifiable risk factors such as psychosocial support, addictive comorbidities, access to care and the therapeutic alliance should be promoted. Relapse prevention is a major goal of the treatment of first-episode schizophrenia. It is based on adherence to the maintenance treatment, identification of prodromes, family active information and patient therapeutical education. Copyright © 2013 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.
Mehta, Sunil Q; Golshani, Peyman
Autism spectrum disorders are neurodevelopmental disorders characterized by deficits in social interactions, communication, and repetitive or restricted interests. There is strong evidence that de novo or inherited genetic alterations play a critical role in causing Autism Spectrum Disorders, but non-genetic causes, such as in utero infections, may also play a role. Magnetic resonance imaging based and autopsy studies indicate that early rapid increase in brain size during infancy could underlie the deficits in a large subset of subjects. Clinical studies show benefits for both behavioral and pharmacological treatment strategies. Genotype-specific treatments have the potential for improving outcome in the future. Published by Elsevier Inc.
Spence, S A; Taylor, D G; Hirsch, S R
Secondary causes of depression are legion, and must always be considered in patients presenting with features atypical of primary idiopathic depressive disorder. The case described is that of a middle-aged woman presenting initially with a major depressive disorder who was subsequently found to have a craniopharyngioma, leading to a revised diagnosis of mood disorder due to the tumour. Some features of the presentation might have led to earlier diagnosis had their localizing significance been recognized. Diencephalic lesions should always be considered in patients presenting with the hypersomnic-hyperphagic variant of depressive disorder. Images Figure 1 PMID:8544149
Giupponi, Giancarlo; Maniscalco, Ignazio; Mathà, Sandra; Ficco, Carlotta; Pernther, Georg; Sanna, Livia; Pompili, Maurizio; Kapfhammer, Hans-Peter; Conca, Andreas
The somatoform disorders include a group of complex disorders consist of somatic symptoms for which there are no identifiable organic cause or pathogenetic mechanisms. Given the importance of these disorders and the need to clarify the diagnosis of somatoform disorder affecting the suicide risk, we took into consideration the scientific literature to investigate the correlation between the two conditions. We performed a bibliographic search through Medline, Embase, PsycINFO, Scopus, SciELO, ORCID, Google Scholar, DOAJ using the following terms: somatoform, somatization disorder, pain disorder AND psychological factor, suicide, parasuicide, suicidality. In all studies reported in our review, the suicidal behavior risk is high. But in the majority, the data are relatively unreliable because it takes into account the category nosographic "Neurotic, stress-related and somatoform disorders", too wide to be able to identify the clinical characteristics of patients at risk of only somatoform disorder. Several studies conclude that psychiatric comorbidity increases the suicide risk: patients with two or more psychiatric disorders are more likely to commit a suicide attempt; in particular if there is a axis I diagnosis, the risk reduplicate. The somatization disorder seems to have a significant psychiatric comorbidity in particular with anxious and affective disorders spectrum.
Full Text Available Conversion disorder is caused by previous severe stress, emotional conflict, or an associated psychiatric disorder, and usually presents with one or more neurologic symptoms. Clinically, it is challenging to diagnose diseases such as transient ischemia attack, stroke, brain tumor, spinal cord injury, and neuropathy. In this case report, we present a male stroke patient who had a typical conversion disorder.
Gola, R; Richard, O; Guyot, L; Cheynet, F
Attributing dysfunction of the temporomandibular joint (TMJ) to whiplash injury is a difficult problem to solve. TMJ disorders do not seem to be secondary to direct articular trauma but rather caused by a postural disorder of the cervical spine. Occlusal disorders and stress further complicate the picture. Four clinical cases illustrate a new hypothetical approach.
. Amongst DSM's most vocal 'insider' critics has been Thomas Insel, Director of the US National Institute of Mental Health. Insel has publicly criticised DSM's adherence to a symptom-based classification of mental disorder, and used the weight ...
Carter, Karen; Tovu, Viran; Langati, Jeffrey Tila; Buttsworth, Michael; Dingley, Lester; Calo, Andy; Harrison, Griffith; Rao, Chalapati; Lopez, Alan D; Taylor, Richard
The population of the Pacific Melanesian country of Vanuatu was 234,000 at the 2009 census. Apart from subsistence activities, economic activity includes tourism and agriculture. Current completeness of vital registration is considered too low to be usable for national statistics; mortality and life expectancy (LE) are derived from indirect demographic estimates from censuses/surveys. Some cause of death (CoD) data are available to provide information on major causes of premature death. Deaths 2001-2007 were coded for cause (ICDv10) for ages 0-59 years from: hospital separations (HS) (n = 636), hospital medical certificates (MC) of death (n = 1,169), and monthly reports from community health facilities (CHF) (n = 1,212). Ill-defined causes were 3 % for hospital deaths and 20 % from CHF. Proportional mortality was calculated by cause (excluding ill-defined) and age group (0-4, 5-14 years), and also by sex for 15-59 years. From total deaths by broad age group and sex from 1999 and 2009 census analyses, community deaths were estimated by deduction of hospital deaths MC. National proportional mortality by cause was estimated by a weighted average of MC and CHF deaths. National estimates indicate main causes of deaths <5 years were: perinatal disorders (45 %) and malaria, diarrhea, and pneumonia (27 %). For 15-59 years, main causes of male deaths were: circulatory disease 27 %, neoplasms 13 %, injury 13 %, liver disease 10 %, infection 10 %, diabetes 7 %, and chronic respiratory disease 7 %; and for females: neoplasms 29 %, circulatory disease 15 %, diabetes 10 %, infection 9 %, and maternal deaths 8 %. Infection included tuberculosis, malaria, and viral hepatitis. Liver disease (including hepatitis and cancer) accounted for 18 % of deaths in adult males and 9 % in females. Non-communicable disease (NCD), including circulatory disease, diabetes, neoplasm, and chronic respiratory disease, accounted for 52 % of premature deaths in adult
Vijay Kumar Ambaldhage
Full Text Available For maintenance of the health of an individual, taste sensation is very important. It is an important sensation that serves to assess the nutritious content of food, support oral intake, and prevent ingestion of potentially toxic substances. Disturbances in the perception of taste can lead to loss of appetite, causing malnutrition and thus distressing both the physical and psychological well-being of the patient. Oral physicians are often the first clinicians who hear complaints about alteration in taste from the patients. In spite of the effect of taste changes on health, literature on the diagnosis, pathogenesis, and precise treatment of taste disorders are less. Taste changes may lead patients to seek inappropriate dental treatments. Proper diagnosis of the etiology is the foremost step in the treatment of taste disorders. Thus, it is important that dental clinicians to be familiar with the various causes and proper management of taste changes. In this article, we have reviewed related articles focusing on taste disorders and their management, to provide a quick sketch for the clinicians. A detailed search was performed to identify the systematic reviews and research articles on taste disorders, using PUBMED and Cochrane. All the authors independently extracted data for analysis and review. Ultimately, 26 articles underwent a full text review. In conclusion, the research to date certainly offers us valid management strategies for taste disorders. Meanwhile, practical strategies with the highest success are needed for further intervention.
... Environment Look Like? How Can Caregivers Create a Safe Sleep Environment? Babies Need Tummy ... exactly what causes SIDS at this time. Scientists and health care providers are working very hard to find the cause or causes ...
Full Text Available Multiple respiratory abnormalities can be found in anxiety disorders, especially in panic disorder (PD. Individuals with PD experience unexpected panic attacks, characterized by anxiety and fear, resulting in a number of autonomic and respiratory symptoms. Respiratory stimulation is a common event during panic attacks. The respiratory abnormality most often reported in PD patients is increased CO2 sensitivity, which has given rise to the hypothesis of fundamental abnormalities in the physiological mechanisms that control breathing in PD. There is evidence that PD patients with dominant respiratory symptoms are more sensitive to respiratory tests than are those who do not manifest such symptoms, and that the former group constitutes a distinct subtype. Patients with PD tend to hyperventilate and to panic in response to respiratory stimulants such as CO2, triggering the activation of a hypersensitive fear network. Although respiratory physiology seems to remain normal in these subjects, recent evidence supports the idea that they present subclinical abnormalities in respiration and in other functions related to body homeostasis. The fear network, composed of the hippocampus, the medial prefrontal cortex, the amygdala and its brain stem projections, might be oversensitive in PD patients. This theory might explain why medication and cognitive-behavioral therapy are both clearly effective. Our aim was to review the relationship between respiration and PD, addressing the respiratory subtype of PD and the hyperventilation syndrome, with a focus on respiratory challenge tests, as well as on the current mechanistic concepts and the pharmacological implications of this relationship.Múltiplas anormalidades respiratórias podem ser encontradas em pacientes com transtornos de ansiedade, particularmente no transtorno de pânico (TP. Indivíduos com TP experimentam ataques de pânico inesperados, caracterizados por ansiedade, medo e diversos sintomas auton
Gavin R. Price
Full Text Available Developmental Dyscalculia (DD is a learning disorder affecting the ability to acquire school-level arithmetic skills, affecting approximately 3-6% of individuals. Progress in understanding the root causes of DD and how best to treat it have been impeded by lack of widespread research and variation in characterizations of the disorder across studies. However, recent years have witnessed significant growth in the field, and a growing body of behavioral and neuroimaging evidence now points to an underlying deficit in the representation and processing of numerical magnitude information as a potential core deficit in DD. An additional product of the recent progress in understanding DD is the resurgence of a distinction between ‘primary’ and ‘secondary’ developmental dyscalculia. The first appears related to impaired development of brain mechanisms for processing numerical magnitude information, while the latter refers to mathematical deficits stemming from external factors such as poor teaching, low socio-economic status, and behavioral attention problems or domain-general cognitive deficits. Increased awareness of this distinction going forward, in combination with longitudinal empirical research, offers great potential for deepening our understanding of the disorder and developing effective educational interventions.
Kockott, G; Dittmar, F
Disorders of sexual libido are seldom organic, in general they are of psychological origin. It is, however, difficult to obtain a differential diagnosis. One of the first diagnostic considerations must be the establishment of primary or secondary libidinal dificit, or indeed, whether there is no libido at all. In cases of libido disorders with primary libido dificit, depression, organic disease, or side effects of pharmaca may be the cause. Libido disorders in the presence of functional libido, however, must be regarded as primarily psychologically caused. An exception are libido problems in the presence of diabetes mellitus and peripheral vasculatory defeciencies. In these cases libido is either totally absent or appears only secondarily. The symptomatology of libido disorders in the presence of depression, diabetes melitus, and peripheral vasculatory disturbancies, as well as psychologically caused erectile and ejaculatory difficulties are discussed in detail. These groups are compared with respect to libido and behavior involving erection, ejaculation, anxiety and avoidance.
... information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Patient Organizations Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane Suite 104 Orlando ...
Shenoy, Chetana; Shenoy, Manjunath Mala; Rao, Gururaja K.
Dyslipidemias are one of the common metabolic disorders. A link between dermatological disorders like psoriasis and dyslipidemia has been established in the recent past. Many dermatological disorders could have a systemic inflammatory component which explains such association. Chronic inflammatory dermatological disorders could also have other metabolic imbalances that may contribute to dyslipidemia. Presence of such abnormal metabolism may justify routine screening of these disorders for associated dyslipidemia and other metabolic abnormalities and early treatment of such comorbidities to improve quality of life. Some of the drugs used by dermatologists such as retinoids are also likely to be a cause of dyslipidemia. Hence, it is imperative that the dermatologists obtain scientific knowledge on the underlying mechanisms involved in dyslipidemia and understand when to intervene with therapies. A systematic review of the English language literature was done by using Google Scholar and PubMed. In this review, attempts are made to list the dermatological disorders associated with dyslipidemia; to simplify the understanding of underlying mechanisms; and to give a brief idea about the interventions. PMID:26713286
Full Text Available IntroductionHereditary hemochromatosis (HH is an autosomal recessive disorder caused by mutations in the HFE gene, which increase intestinal iron absorption. The prevalence of C282Y homozygosity, which causes the disorder, is 0.5% in Caucasian populations. The clinical manifestations are related to excess iron in the tissues, especially the liver, heart, pancreas, pituitary, and skin. They include fatigue, loss of libido or impotence in males, liver disease, skin pigmentation, diabetes mellitus, cardiac enlargement—with or without heart failure, and conduction defects. The classic triad of cirrhosis, diabetes mellitus, and skin pigmentation (“bronze diabetes” results from a combination of iron deposits and melanin. It occurs late in the disease, when the total body iron content is more than five times the normal value, about 20 grams. Left untreated, approximately half of all patients with HH eventually develop arthralgia or arthropathy. Chondrocalcinosis, chronic pseudo-osteoarthritis, and osteoporosis are the major rheumatic manifestations of HH. The cause of the arthropathy is still unknown. Iron deposits within joints may trigger a number of pathologic events, such as free radical generation and crystal deposition, which stimulate immune complex formation and inflammation.Materials and methodsWe describe the case of a 48-year-old male suffering from chronic bilateral ankle pain.ResultsThe work-up revealed osteonecrosis of ankle. The patient also presented high plasma ferritin levels and homozygosity for the C282Y mutation. Other than HH, which was confirmed by liver biopsy, the patient had no other risk factors for osteonecrosis.DiscussionHH represents a rare cause of osteonecrosis, and there are no prior reports of aseptic osteonecrosis of the ankle in a patient with this disease. The pathogenetic mechanism remains unknown.
Full Text Available Conduct disorder is a heterogeneous disorder in terms of etiology, course and prognosis, and currently, there is no singular model that would describe the development of the disorder. The results of empirical research on males confirm this heterogeneity, as they point out to two possible developmental pathways: childhood-onset and adolescentonset type. This paper presents the basic elements of developmental taxonomic theory which argues that there are two different developmental pathways to conduct disorder which have different causes and serve as the basis for the current typology of conduct disorders in the classification systems. Such a typology of conduct disorders in the diagnostic classification allows better understanding, prognosis and choice of treatment.
Full Text Available This article reviews several most important evolutionary mechanisms that underlie eating disorders. The first part clarifies evolutionary foundations of mental disorders and various mechanisms leading to their development. In the second part selective pressures and evolved adaptations causing contemporary epidemic of obesity as well as differences in dietary regimes and life-style between modern humans and their ancestors are described. Concerning eating disorders, a number of current evolutionary explanations of anorexia nervosa are presented together with their main weaknesses. Evolutionary explanations of eating disorders based on the reproductive suppression hypothesis and its variants derived from kin selection theory and the model of parental manipulation were elaborated. The sexual competition hypothesis of eating disorder, adapted to flee famine hypothesis as well as explanation based on the concept of social attention holding power and the need to belonging were also explained. The importance of evolutionary theory in modern conceptualization and research of eating disorders is emphasized.
Vieira Karen F
Full Text Available Abstract According to the Diagnostic and Statistical Manual of Mental Disorders, 4 out of the 10 leading causes of disability in the US and other developed countries are mental disorders. Major depression, bipolar disorder, schizophrenia, and obsessive compulsive disorder (OCD are among the most common mental disorders that currently plague numerous countries and have varying incidence rates from 26 percent in America to 4 percent in China. Though some of this difference may be attributable to the manner in which individual healthcare providers diagnose mental disorders, this noticeable distribution can be also explained by studies which show that a lack of certain dietary nutrients contribute to the development of mental disorders. Notably, essential vitamins, minerals, and omega-3 fatty acids are often deficient in the general population in America and other developed countries; and are exceptionally deficient in patients suffering from mental disorders. Studies have shown that daily supplements of vital nutrients often effectively reduce patients' symptoms. Supplements that contain amino acids also reduce symptoms, because they are converted to neurotransmitters that alleviate depression and other mental disorders. Based on emerging scientific evidence, this form of nutritional supplement treatment may be appropriate for controlling major depression, bipolar disorder, schizophrenia and anxiety disorders, eating disorders, attention deficit disorder/attention deficit hyperactivity disorder (ADD/ADHD, addiction, and autism. The aim of this manuscript is to emphasize which dietary supplements can aid the treatment of the four most common mental disorders currently affecting America and other developed countries: major depression, bipolar disorder, schizophrenia, and obsessive compulsive disorder (OCD. Most antidepressants and other prescription drugs cause severe side effects, which usually discourage patients from taking their medications. Such
Brookshire, Robert H.
This book provides an overview of the causes and symptoms, and the typical courses, treatments, and outcomes of neurogenic communication disorders. Chapter 1 reviews the human nervous system and neurologic causes of adult communication disorders. Chapter 2 discusses the neurologic assessment and arriving at a diagnosis, including the neurologist's…
Understanding the Covariation among Childhood Externalizing Symptoms: Genetic and Environmental Influences on Conduct Disorder, Attention Deficit Hyperactivity Disorder, and Oppositional Defiant Disorder Symptoms.
Dick, Danielle M.; Viken, Richard J.; Kaprio, Jaakko; Pulkkinen, Lea; Rose, Richard J.
Conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), and oppositional defiant disorder (ODD) are common childhood externalizing disorders that frequently co-occur. However, the causes of their comorbidity are not well understood. To address that question, we analyzed data from >600 Finnish twin pairs, who completed standardized…
Ali, Tauseef; Choe, James; Awab, Ahmed; Wagener, Theodore L; Orr, William C
Sleep disorders have become a global issue, and discovering their causes and consequences are the focus of many research endeavors. An estimated 70 million Americans suffer from some form of sleep disorder. Certain sleep disorders have been shown to cause neurocognitive impairment such as decreased cognitive ability, slower response times and performance detriments. Recent research suggests that individuals with sleep abnormalities are also at greater risk of serious adverse health, economic ...
Filipa Araújo; Adriana Horta
Background: Bipolar disorder affects approximately 1% of the population, with diagnosis often being made during late adolescence and early adulthood, and only rarely (0.1%) in the elderly. Late onset bipolar disorder in the elderly has a impact on the nature and course of bipolar disorder. Aims: The authors report a case of bipolar disorder emerging in late life (76years old) with no cleary identified organic cause. Conclusion: This case highlights the importance of a broad different...
Buitelaar, J.K.; Smeets, K.C.; Herpers, P.; Scheepers, F.; Glennon, J.; Rommelse, N.N.J.
Conduct disorder (CD) is a frequently occurring psychiatric disorder characterized by a persistent pattern of aggressive and non-aggressive rule breaking antisocial behaviours that lead to considerable burden for the patients themselves, their family and society. This review paper updates diagnostic
van den Bosch, L.M.C.; Verheul, R.; Verster, J.C.; Brady, K.; Galanter, M.; Conrod, P.
Subject of this chapter is the often found combination of personality disorders and substance abuse disorders. The serious nature of this comorbidity is shown through the discussion of prevalence and epidemiological data. Literature shows that the comorbidity, hampering the diagnostic process, is
Suzuki, Masahiro; Konno, Chisato; Furihata, Ryuji; Osaki, Koichi; Uchiyama, Makoto
Most psychiatric disorders, such as schizophrenia, mood disorders, or neurotic disorders are associated with sleep disorders of various kinds, among which insomnia is most prevalent and important in psychiatric practice. Almost all patients suffering from major depression complain of insomnia. Pharmacological treatment of insomnia associated with major depression shortens the duration to achieve remission of depression. Insomnia has been recently reported to be a risk factor for depression. In patients with schizophrenia, insomnia is often an early indicator of the aggravation of psychotic symptoms. Electroencephalographic sleep studies have also revealed sleep abnormalities characteristic to mood disorders, schizophrenia and anxiety disorders. A shortened REM sleep latency has been regarded as a biological marker of depression. Reduced amount of deep non-REM sleep has been reported to be correlated with negative symptoms of schizophrenia. Recently, REM sleep abnormalities were found in teenagers having post-traumatic stress disorder after a boat accident. Although these facts indicate that insomnia plays an important role in the development of psychiatric disorders, there are few hypotheses explaining the cause and effect of insomnia in these disorders. Here, we reviewed recent articles on insomnia associated with psychiatric disorders together with their clinical managements.
L. F. Kurilo
Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.
Moraxella catarrhalis is a gram negative diplococcus that causes a variety of upper and lower respiratory tract infections. Patients with malignant, hematological disorders treated with intensive cytotoxic chemotherapy, and recipients of various forms of haematopoietic stem cell transplant receiving immunosuppressive ...
There are many causes of intestinal obstruction in the neonatal age. The most common types are mechanical and result from congenital malformations of the gastrointestinal tract. However, functional disorders also occur. In some cases, diagnosis can be made prenatally but in others manifestation occurs after birth. The aim ...
Tyrer, Peter; Mulder, Roger; Crawford, Mike
and to society, and interferes, usually negatively, with progress in the treatment of other mental disorders. We now have evidence that personality disorder, as currently classified, affects around 6% of the world population, and the differences between countries show no consistent variation. We are also getting......Personality disorder is now being accepted as an important condition in mainstream psychiatry across the world. Although it often remains unrecognized in ordinary practice, research studies have shown it is common, creates considerable morbidity, is associated with high costs to services...... increasing evidence that some treatments, mainly psychological, are of value in this group of disorders. What is now needed is a new classification that is of greater value to clinicians, and the WPA Section on Personality Disorders is currently undertaking this task....
... inherited metabolic or congenital muscle disorder such as Noonan syndrome, Pompe disease, fatty acid oxidation defect or Barth ... where a specific chromosome is deleted or duplicated. Noonan syndrome is the most common form associated with pediatric ...
... part of the larger developmental disorder category of autism spectrum disorder . ... American Psychiatric Association. Autism spectrum disorder. ... VA: American Psychiatric Publishing: 2013;50-59. Raviola GJ, ...
Chang, Yuanmay; Lam, Calvin; Chen, Su-Ru; Sithole, Trevor; Chung, Min-Huey
To investigate the difference between nurses and the general population regarding seasonal variations in sleep disorders during 2004-2008. The effects of season and group interaction on sleep disorders with regard to different comorbidities were also examined. Studies on seasonal variations in sleep disorders were mainly conducted in Norway for the general population. Furthermore, whether different comorbidities cause seasonal variations in sleep disorders in nurses remains unknown. A retrospective study. Data from the Taiwan National Health Insurance Research Database were used in generalised estimating equation Poisson distribution models to investigate the differences in sleep disorders between nurses and the general population diagnosed with sleep disorders (each n = 7643) as well as the interaction effects of sleep disorders between the groups with respect to different seasons. Furthermore, the interaction effects between groups and seasons on sleep disorders in the subgroups of comorbid anxiety disorders and depressive disorders were studied. Both the nurses and the general population had fewer outpatient visits for sleep disorders in winter than in other seasons. The nurses had fewer outpatient visits for sleep disorders than the general population did in each season. The nurses had more outpatient visits for sleep disorders in winter than in summer compared with the general population in the comorbid depressive disorder subgroup but not in the comorbid anxiety disorder subgroup. Nurses and the general population exhibited similar seasonal patterns of sleep disorders, but nurses had fewer outpatient visits for sleep disorders than the general population did in each season. For nurses with comorbid depressive disorders, outpatient visits for sleep disorders were more numerous in winter than in summer, potentially because nurses with comorbid depressive disorders are affected by shorter daylight exposure during winter. Depression and daylight exposure may
Eggermann, Thomas; Netchine, Irène; Temple, I Karen
Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...
Günthert, E A
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.
Montant, J; Adida, M; Belzeaux, R; Cermolacce, M; Pringuey, D; Da Fonseca, D; Azorin, J-M
The phenomenology of dissociative disorders may be complex and sometimes confusing. We describe here two cases who were initially misdiagnosed. The first case concerned a 61 year-old woman, who was initially diagnosed as an isolated dissociative fugue and was actually suffering from severe major depressive episode. The second case concerned a 55 year-old man, who was suffering from type I bipolar disorder and polyvascular disease, and was initially diagnosed as dissociative fugue in a mooddestabilization context, while it was finally a stroke. Yet dissociative disorders as affective disorder comorbidity are relatively unknown. We made a review on this topic. Dissociative disorders are often studied through psycho-trauma issues. Litterature is rare on affective illness comorbid with dissociative disorders, but highlight the link between bipolar and dissociative disorders. The later comorbidity often refers to an early onset subtype with also comorbid panic and depersonalization-derealization disorder. Besides, unipolar patients suffering from dissociative symptoms have more often cyclothymic affective temperament. Despite the limits of such studies dissociative symptoms-BD association seems to correspond to a clinical reality and further works on this topic may be warranted. Copyright © 2014 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.
Full Text Available Compulsive masturbation is a type of paraphilia related disorder in which a person engages in masturbatory behavior to such an extent that it causes socio-occupational dysfunction. The psychiatric co-morbidities associated with it include mood and anxiety disorders, substance use disorders, etc. Here, we report a case of a patient with the delusional disorder having compulsive masturbation.
F.K.L. Spijkervet; R. Weissenbruch; A. Visser; Dr. Harriët Jager-Wittenaar; A. van Nieuw Amerongen; A. Vissink
Taste and smell perception are closely related. Many chemosensory disorders which result in faulty taste are in fact smell disorders. Causes of chemosensory disorders which call for attention are ageing, medication, natural proteins, burning mouth syndrome, nerve injuries, aerate disorders in the
Cramer, A.O.J.; Borsboom, D.; Scott, R.A.; Kosslyn, S.M.
What is the nature of mental disorders such as major depression and panic disorder? Are mental disorders analogous to tumors, in that they exist as separate entities somewhere in people's minds? Do mental disorders cause symptoms such as insomnia and fatigue? Until very recently, it was exactly this
Sagar Karia; Avinash De Sousa; Nilesh Shah; Sushma Sonavane
Compulsive masturbation is a type of paraphilia related disorder in which a person engages in masturbatory behavior to such an extent that it causes socio-occupational dysfunction. The psychiatric co-morbidities associated with it include mood and anxiety disorders, substance use disorders, etc. Here, we report a case of a patient with the delusional disorder having compulsive masturbation.
Crespin, O M; Tatum, R P; Yates, R B; Sahin, M; Coskun, K; Martin, A V; Wright, A; Oelschlager, B K; Pellegrini, C A
Nutcracker esophagus (NE), Jackhammer esophagus (JHE), distal esophageal spasm (DES), and hypertensive lower esophageal sphincter (HTLES) are defined by esophageal manometric findings. Some patients with these esophageal motility disorders also have abnormal gastroesophageal reflux. It is unclear to what extent these patients' symptoms are caused by the motility disorder, the acid reflux, or both. The aim of this study was to determine the effectiveness of laparoscopic Nissen fundoplication (LNF) on esophageal motility disorders, gastroesophageal reflux, and patient symptoms. Between 2007 and 2013, we performed high-resolution esophageal manometry on 3400 patients, and 221 patients were found to have a spastic esophageal motility disorder. The medical records of these patients were reviewed to determine the manometric abnormality, presence of gastroesophageal symptoms, and amount of esophageal acid exposure. In those patients that underwent LNF, we compared pre- and postoperative esophageal motility, gastroesophageal symptom severity, and esophageal acid exposure. Of the 221 patients with spastic motility disorders, 77 had NE, 2 had JHE, 30 had DES, and 112 had HTLES. The most frequently reported primary and secondary symptoms among all patients were: heartburn and/or regurgitation, 69.2%; respiratory, 39.8%; dysphagia, 35.7%; and chest pain, 22.6%. Of the 221 patients, 192 underwent 24-hour pH monitoring, and 103 demonstrated abnormal distal esophageal acid exposure. Abnormal 24-hour pH monitoring was detected in 62% of patients with heartburn and regurgitation, 49% of patients with respiratory symptoms, 36.8 % of patients with dysphagia, and 32.6% of patients with chest pain. Sixty-six of the 103 patients with abnormal 24-hour pH monitoring underwent LNF. Thirty-eight (13NE, 2JHE, 6 DES, and 17 HTLES) of these 66 patients had a minimum of 6-month postoperative follow-up that included clinical evaluation, esophageal manometry, and 24-hour pH monitoring
... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...
Rhee, Soo Hyun; Willcutt, Erik G.; Hartman, Christie A.; Pennington, Bruce F.; DeFries, John C.
There is significant comorbidity between attention-deficit/hyperactivity disorder (ADHD) and conduct disorder (CD). The conclusions of studies that examined the causes of comorbidity between ADHD and CD conflict, with some researchers finding support for the three independent disorders model and others finding support for the correlated risk…
Full Text Available Hunger is an awakening related biological impulse. The relationship between hunger and sleep is moderated by the control of homeostatic and circadian rhytms of the body. Abnormal eating behavior during sleep period could result from different causes. Abnormal eating during the main sleep period has been categorized as either night eating syndrome or sleep related eating disorder. Night eating syndrome (NES is an eating disorder characterised by the clinical features of morning anorexia, evening hyperphagia, and insomnia with awakenings followed by nocturnal food ingestion. Recently night eating syndrome, conceptualized as a delayed circadian intake of food. Sleep-related eating disorder, thought to represent a parasomnia and as such included within the revised International Classification of Sleep Disorders (ICSD-2, and characterized by nocturnal partial arousals associated with recurrent episodes of involuntary food consumption and altered levels of consciousness. Whether, however, sleep-related eating disorder and night eating syndrome represent different diseases or are part of a continuum is still debated. This review summarizes their characteristics, treatment outcomes and differences between them.
Full Text Available Sexual problems that are psychological in origin, rather than physiological, are called psychosexual disorders. Multiple factors, such as general health of the patient, chronic illnesses, psychiatric/psychological disorders, and socio-cultural factors, alone or in combination can be attributed to the development of psychosexual dysfunctions. The symptoms of these disorders vary for each individual and differ with gender. These disorders may be categorized as sexual dysfunction, paraphilias, and gender identity disorders. Dermatologists are sometimes consulted for sexual dysfunctions in their routine practice by the patients visiting sexually transmitted infections (STI clinics because a majority of the patients believe that these problems are caused by dysfunctions in the sex organs, and because people are hesitant to go to sexuality clinics and psychiatrists for such problems. Sometimes these patients are referred from other specialties such as urology or gynecology; most often, we attempt to search for STIs or other dermatoses on the genitalia and refer them back. We often underestimate the prevalence of sexual concerns of the patients or feel uncomfortable discussing matters of sexuality with them. Dermatologists should understand basic sexual medicine and ask patients for sexual problems. They should be trained to manage such patients accordingly. In this review, we will be focusing on sexual dysfunctions, their etiopathogenesis, and management from a dermatologist's perspective.
Narang, Tarun; Garima; Singh, Shubh M.
Sexual problems that are psychological in origin, rather than physiological, are called psychosexual disorders. Multiple factors, such as general health of the patient, chronic illnesses, psychiatric/psychological disorders, and socio-cultural factors, alone or in combination can be attributed to the development of psychosexual dysfunctions. The symptoms of these disorders vary for each individual and differ with gender. These disorders may be categorized as sexual dysfunction, paraphilias, and gender identity disorders. Dermatologists are sometimes consulted for sexual dysfunctions in their routine practice by the patients visiting sexually transmitted infections (STI) clinics because a majority of the patients believe that these problems are caused by dysfunctions in the sex organs, and because people are hesitant to go to sexuality clinics and psychiatrists for such problems. Sometimes these patients are referred from other specialties such as urology or gynecology; most often, we attempt to search for STIs or other dermatoses on the genitalia and refer them back. We often underestimate the prevalence of sexual concerns of the patients or feel uncomfortable discussing matters of sexuality with them. Dermatologists should understand basic sexual medicine and ask patients for sexual problems. They should be trained to manage such patients accordingly. In this review, we will be focusing on sexual dysfunctions, their etiopathogenesis, and management from a dermatologist's perspective. PMID:27294047
Hannig, C.; Rummeny, E.; Wuttge-Hannig, A.
For the better understanding of esophageal motility, the muscle texture and the distribution of skeletal and smooth muscle fibers in the esophagus are of crucial importance. Esophageal physiology will be shortly mentioned as far as necessary for a comprehensive understanding of peristaltic disturbances. Besides the pure depiction of morphologic criteria, a complete esophageal study has to include an analysis of the motility. New diagnostic tools with reduced radiation for dynamic imaging (digital fluoroscopy, videofluoroscopy) at 4-30 frames/s are available. Radiomanometry is a combination of a functional pressure measurement and a simultaneous dynamic morphologic analysis. Esophageal motility disorders are subdivided by radiologic and manometric criteria into primary, secondary, and nonclassifiable forms. Primary motility disorders of the esophagus are achalasia, diffuse esophageal spasm, nutcracker esophagus, and the hypertonic lower esophageal sphincter. The secondary motility disorders include pseudoachalasia, reflux-associated motility disorders, functionally caused impactions, Boerhaave's syndrome, Chagas' disease, scleroderma, and presbyesophagus. The nonclassificable motility disorders (NEMD) are a very heterogeneous collective. (orig.) [de
Prevalence of epilepsy and seizure disorders as causes of apparent life- threatening event (ALTE in children admitted to a tertiary hospital Prevalência de epilepsia e crises epilépticas como causa de eventos com aparente risco de vida (ALTE em crianças internadas em hospital terciário
Alessandra Marques dos Anjos
Full Text Available OBJECTIVE: To determine the prevalence and describe clinical characteristics of seizure disorders and epilepsy as causes of apparent life- threatening event (ALTE in children admitted at the emergency and followed in a tertiary hospital. METHOD: Cross-sectional study with prospective data collection using specific guidelines to determine the etiology of ALTE. RESULTS: During the study, 30 (4.2% children admitted to the hospital had a diagnosis of ALTE. There was a predominance of males (73% and term infants (70%. Neonatal neurological disorders and neuropsychomotor development delay were found respectively in 13.4% and 10% of the cases. Etiological investigation revealed that 50% of the cases were idiopathic, and 13.4% were caused by epilepsy or seizure disorders. Although all patients had recurrent ALTE events, epilepsy had not been previously suspected. CONCLUSION: Epilepsy should be included in the differential diagnosis of ALTE, particularly when events are recurrent.OBJETIVO: Determinar a prevalência e características clínicas de crises epilépticas e epilepsia como causa de eventos com aparente risco de vida (ALTE em crianças atendidas na emergência e acompanhadas em hospital terciário. MÉTODO: Estudo transversal com coleta prospectiva de dados através de protocolo específico para identificação da etiologia de ALTE. RESULTADOS: Foram diagnosticadas 30 crianças com ALTE perfazendo 4.2% das crianças internadas no período do estudo. Houve predominância no sexo masculino (73% e em neonatos a termo (70%. História prévia de doenças neurológicas no período neonatal e atraso no desenvolvimento neuropsicomotor ocorreram respectivamente em 13.4% e 10% dos casos. A investigação etiológica identificou 13.4% dos casos relacionados a epilepsia ou crise convulsivas e 50% idiopáticos. Apesar destes pacientes terem apresentados episódios recorrentes em nenhum caso havia a suspeita prévia de epilepsia. CONCLUSÃO: Ao investigar
... develop problems with drug abuse and the law. Depression and bipolar disorder may develop in the teen years and early adulthood. Suicide and violence toward others are also possible complications.
... the day, even if you have had enough sleep? You might have a sleep disorder. The most common kinds are Insomnia - a hard time falling or staying asleep Sleep apnea - breathing interruptions during sleep Restless legs syndrome - ...
This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti. Neurologists require a basic knowledge of and familiarity with a wide variety of neurocutaneous disorders because of the frequent involvement of the central and peripheral nervous systems. A simple routine skin examination can often open a broad differential diagnosis and lead to improved patient care.
... support their claims. Factitious disorder signs and symptoms may include: Clever and convincing medical or psychological problems Extensive knowledge of medical terms and diseases Vague or inconsistent symptoms Conditions that get worse for no apparent ...
... lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include Amyotrophic lateral sclerosis Multiple sclerosis Myasthenia ...
... objections runs away from home often truant from school Children who exhibit these behaviors should receive a comprehensive evaluation by an experience mental health professional. Many children with a conduct disorder may ...
Kessels, R.P.C.; Savage, G.; Cautin, R.L.; Lilienfeld, S.O.
Amnestic disorders may involve deficits in the encoding or storage of information in memory, or in retrieval of information from memory. Etiologies vary and include traumatic brain injury, neurodegenerative disease, and psychiatric illness. Different forms of amnesia can be distinguished:
Rahbek Kornum, Birgitte; Mignot, Emmanuel
mediates circadian regulation of sleep. Misalignment with the rhythm of the sun results in circadian disorders and jet lag. The molecular basis of homeostatic sleep regulation is mostly unknown. A network of mutually inhibitory brain nuclei regulates sleep states and sleep-wake transitions. Abnormalities...... in these networks create sleep disorders, including rapid eye movement sleep behavior disorder, sleep walking, and narcolepsy. Physiological changes associated with sleep can be imbalanced, resulting in excess movements such as periodic leg movements during sleep or abnormal breathing in obstructive sleep apneas....... As every organ in the body is affected by sleep directly or indirectly, sleep and sleep-associated disorders are frequent and only now starting to be understood....
... Aching pain in and around your ear Difficulty chewing or pain while chewing Aching facial pain Locking of the joint, making ... disorder. When to see a doctor Seek medical attention if you have persistent pain or tenderness in ...
Fabriciova, K.; Bzduch, V.; Behulova, D.; Skodova, J.; Holesova, D.; Ostrozlikova, M.; Schmidtova, K.; Kozich, V.
Vitamin B-12 – cobalamin (Cbl) is a water soluble vitamin, which is synthesized by lower organisms. It cannot be synthesized by plants and higher organisms. Problem in the metabolic pathway of Cbl can be caused by its deficiency or by the deficiency of its last metabolites – adenosylcobalamin and methylcobalamin. Both reasons are presented by errors in the homocysteine and methylmalonyl-coenzyme A metabolism. Clinical symptoms of the Cbl metabolism disorders are: different neurological disorders, changes in haematological status (megaloblastic anemia, pancytopenia), symptoms of gastrointestinal tract (glossitis, loss of appetite, diarrhea) and changes in the immune system. In the article the authors describe the causes of Cbl metabolism disorders, its different diagnosis and treatment. They introduce the group of patients with these disorders, who were taken care of in the I st Paediatric Department of University Children Hospital for the last 5 years. (author)
Kontić Olga; Vasiljević Nadja; Trišović Marija; Jorga Jagoda; Lakić Aneta; Jašović-Gašić Miroslava
Eating disorders are considered chronic diseases of civilization. The most studied and well known are anorexia and bulimia nervosa. Anorexia is considered one of the most common psychiatric problems of girls in puberty and adolescence. Due to high mortality and morbidity as well as the increasing expansion of these diseases, it is clear why the amount of research on these diseases is growing worldwide. Eating disorders lead to numerous medical complications, mostly due to late diagnosis...
83.6%), Fever (70.1%) and sleep deprivation (67.6%) as the causes of sleepwalking disorder .The study also revealed that majority of the respondents perceived anticipatory awakening (98%) as a vital treatment of sleep walking disorder.
Cirstea, Ion C.; Kutsche, Kerstin; Dvorsky, Radovan; Gremer, Lothar; Carta, Claudio; Horn, Denise; Roberts, Amy E.; Lepri, Francesca; Merbitz-Zahradnik, Torsten; Koenig, Rainer; Kratz, Christian P.; Pantaleoni, Francesca; Dentici, Maria L.; Joshi, Victoria A.; Kucherlapati, Raju S.; Mazzanti, Laura; Mundlos, Stefan; Patton, Michael A.; Silengo, Margherita Cirillo; Rossi, Cesare; Zampino, Giuseppe; Digilio, Cristina; Stuppia, Liborio; Seemanova, Eva; Pennacchio, Len A.; Gelb, Bruce D.; Dallapiccola, Bruno; Wittinghofer, Alfred; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced
... 2017 NIH researchers find potential genetic cause of Cushing syndrome Finding may lead to therapies that prevent pituitary ... mutations in the gene CABLES1 may lead to Cushing syndrome, a rare disorder in which the body overproduces ...
Mulas, F; Morant, A
Paroxystic psychic disorders which imitate organic disorders of the nervous system may have peripheral effects, present as changes in level of consciousness or appear as paroxystic behaviour changes. The types of crises of psychological origin are: tantrums, panic attacks, crises of psychopathic rage, onanism or masturbation, epileptic pseudocrises or pseudoconvulsions and Munchausen's syndrome. In general psychic crises are not frequent in infancy: tantrums are commoner in small children and the other conditions usually occur after puberty or during adolescence. The anamnesis is the most important factor in the correct diagnosis of psychogenic paroxystic disorders. Complementary studies are done in doubtful cases, to rule out different pathological processes which might be causing the paroxystic disorder. Amongst these investigations, we emphasize the importance of the video-EEG for differential diagnosis of paroxystic disorders in children.
Full Text Available Research shows that autoimmune encephalitis is associated with sleep disorders. Paraneoplastic neurological syndrome (PNS with Ma2 antibodies can cause sleep disorders, particularly narcolepsy and rapid eye movement sleep behavior disorder (RBD. Limbic encephalitis (LE and Morvan syndrome, associated with voltage - gated potassium channel (VGKC-complex antibodies, which include leucine-rich glioma-inactivated 1 (LGI1 antibody and contactin-associated protein 2 (Caspr2, can result in profound insomnia and other sleep disorders. Central neurogenic hypoventilation are found in patients with anti-N-methyl-D-aspartate (NMDA receptor encephalitis, whereas obstructive sleep apnea (OSA, stridor and parasomnia are prominent features of encephalopathy associated with IgLON5 antibodies. Sleep disorders are cardinal manifestations in patients with autoimmune encephalitis. Immunotherapy possiblely can improve clinical symptoms and prognosis in a positive way. DOI: 10.3969/j.issn.1672-6731.2017.10.004
... Antisocial behavior Impulse control problems Substance use disorder Suicide Many children and teens with ODD also have other mental health disorders, such as: Attention-deficit/hyperactivity disorder (ADHD) Conduct disorder Depression Anxiety Learning and communication disorders Treating these other ...
Sahoo, Krushnapriya; Sahoo, Bishnupriya; Choudhury, Ashok Kumar; Sofi, Nighat Yasin; Kumar, Raman; Bhadoria, Ajeet Singh
Childhood obesity has reached epidemic levels in developed as well as in developing countries. Overweight and obesity in childhood are known to have significant impact on both physical and psychological health. Overweight and obese children are likely to stay obese into adulthood and more likely to develop non-communicable diseases like diabetes and cardiovascular diseases at a younger age. The mechanism of obesity development is not fully understood and it is believed to be a disorder with multiple causes. Environmental factors, lifestyle preferences, and cultural environment play pivotal roles in the rising prevalence of obesity worldwide. In general, overweight and obesity are assumed to be the results of an increase in caloric and fat intake. On the other hand, there are supporting evidence that excessive sugar intake by soft drink, increased portion size, and steady decline in physical activity have been playing major roles in the rising rates of obesity all around the world. Childhood obesity can profoundly affect children's physical health, social, and emotional well-being, and self esteem. It is also associated with poor academic performance and a lower quality of life experienced by the child. Many co-morbid conditions like metabolic, cardiovascular, orthopedic, neurological, hepatic, pulmonary, and renal disorders are also seen in association with childhood obesity.
Full Text Available Childhood obesity has reached epidemic levels in developed as well as in developing countries. Overweight and obesity in childhood are known to have significant impact on both physical and psychological health. Overweight and obese children are likely to stay obese into adulthood and more likely to develop non-communicable diseases like diabetes and cardiovascular diseases at a younger age. The mechanism of obesity development is not fully understood and it is believed to be a disorder with multiple causes. Environmental factors, lifestyle preferences, and cultural environment play pivotal roles in the rising prevalence of obesity worldwide. In general, overweight and obesity are assumed to be the results of an increase in caloric and fat intake. On the other hand, there are supporting evidence that excessive sugar intake by soft drink, increased portion size, and steady decline in physical activity have been playing major roles in the rising rates of obesity all around the world. Childhood obesity can profoundly affect children′s physical health, social, and emotional well-being, and self esteem. It is also associated with poor academic performance and a lower quality of life experienced by the child. Many co-morbid conditions like metabolic, cardiovascular, orthopedic, neurological, hepatic, pulmonary, and renal disorders are also seen in association with childhood obesity.
Karasek, M.; Pawlikowski, M.; Lewinski, A.
The basic data on hyperprolactinemia (i.e. an excess of PRL above a reference laboratory's upper limits), the most common endocrine disorder of the hypothalamic-pituitary axis are given in this review. The following issues are discussed: regulation of prolactin (Prl) secretion, definition of hyperprolactinemia, its etiology and pathogenesis as well as its symptoms, diagnosis, and treatment (including medical and surgical therapy). It should be stressed that finding of elevated PRL serum concentrations constitute the beginning of diagnostic procedure and, after exclusion of physiologic, pharmacologic, and other organic causes of increased PRL levels, should be followed by detailed diagnosis including MRI. In patients in whom hyperprolactinemia has been confirmed the treatment with dopamine agonists (with prevalence of cabergoline, followed by quinagoline) is currently considered first-choice therapy. Surgery should be performed only in the patients resistant or intolerant to these agents, or in patients who refuse long-term therapy. (author)
Full Text Available Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Nav1.4. The main symptoms of these disorders are myotonia or periodic paralysis caused by changes in skeletal muscle fiber excitability. Symptoms of these disorders vary from mild or latent disease to incapacitating or even death in severe cases. As new human sodium channel mutations corresponding to disease states become discovered, the importance of understanding the role of the sodium channel in skeletal muscle function and disease state grows.
Sleep disorders (e.g., insomnias, sleep apnea, hypersomnias, parasomnias, and problems with circadian rhythm) are common in people with cancer. Get detailed information about the causes and management of the major sleep disorders in this summary for clinicians.
Lykke, Jacob Alexander; Langhoff-Roos, Jens; Lockwood, Charles J
cardiovascular and non-cardiovascular causes following preterm delivery, small-for-gestational-age offspring and hypertensive disorders of pregnancy. We found that preterm delivery and small-for-gestational-age were both associated with subsequent death of mothers from cardiovascular and non...... cardiovascular and non-cardiovascular causes, while hypertensive disorders of pregnancy are markers of early death of mothers from cardiovascular causes....
Einstein said that gravity is an acceleration like any other acceleration. But gravity causes relativistic effects at non-relativistic speeds; so gravity could have relativistic origins. And since the strong force is thought to cause most of mass, and mass is proportional to gravity; the strong force is therefore also proportional to gravity. The strong force could thus cause relativistic increases of mass through the creation of virtual gluons; along with a comparable contraction of space ar...
Filaković, Pavo; Petek, Anamarija; Koić, Oliver; Radanović-Grgurić, Ljiljana; Degmecić, Dunja
Depressive disorders are more common in the population affected with dermatologic disorders. Comorbidity of depression and dermatologic disorders is around 30%. The correlation between depressive and dermatologic disorders still remains unclear. In psychodermatology three disorders are described: a) psychophysiological disorders (both disorders induced and maintained by stressors), b) secondary psychiatric disorders (mental disorder as a result of skin leasions and treatment) and c) primary psychiatric disorders (skin alterations as a result of mental disorders and treatment). In depression and dermatology disorders in which certain precipitating factors are required thereby causing alteration of the patient's immunological identity causing a combination of hereditary features and ones acquired through adaptation occur to cause the disorder to develop. The cytokines are vital in the regulation of the immunology response and are also mediators of non-infective inflammatory processes leading to recurrent hormonal secretion affecting the function of the vegetative and central nervous system leading to so called "sickness behaviour", marked by loss of appetite, anhedonia, anxiety, decrease of concentration and interest along with other changes which generate a picture of depressive disorder. Treatment of depressive and dermatologic disorders is complex and requires an integral therapeutic approach encompassing all aspects of both disorders and their comorbidity. Therefore therapeutic success lies in a team approach to the patient under the auspice of consultative-liason psychiatry by setting the frame for efficient collaboration and bridging the gap between the mental and the physical in everyday clinical practice.
Martino, Davide; Mink, Jonathan W
Primary tic disorders are complex, multifactorial disorders in which tics are accompanied by other sensory features and an array of comorbid behavioral disorders. Secondary tics are proportionally much less frequent, but their etiology is diverse. This review aims to guide clinicians in the recognition of the phenomenology, pathophysiology, and treatment of these disorders. Advances include greater phenomenologic insights, particularly of nonmotor (sensory) features; increased knowledge of disease mechanisms, particularly coming from neuropsychological, functional imaging, pathologic, and animal model studies; growing evidence on the efficacy of alpha-2 agonists and the newer generation of dopamine-modulating agents; and recent strides in the evaluation of cognitive-behavioral therapy and deep brain stimulation surgery. The correct diagnostic approach to tic disorders requires accurate historical gathering, a thorough neurologic examination, and detailed definition of the patient's psychopathologic profile. Treatment should always begin with individualized psychoeducational strategies. Although pharmacologic treatments remain beneficial for most patients, cognitive-behavioral treatments have thus far shown promising efficacy. Deep brain stimulation surgery should still be limited to adult patients refractory to pharmacotherapy and cognitive-behavioral therapy.
Escobar, María E; Pipman, Viviana; Arcari, Andrea; Boulgourdjian, Elisabeth; Keselman, Ana; Pasqualini, Titania; Alonso, Guillermo; Blanco, Miguel
The high prevalence of menstrual disorders during the first years after menarche is well recognized. This is usually a cause of concern for parents and patients, and a common reason for visiting the pediatrician. The immaturity of the hypothalamic-pituitary-ovarian axis is the major cause of these disorders, but there are also some general organic or emotional conditions that may alter the menstrual cycle, which is a sensitive indicator of health. Physiology of the menstrual cycle, its alterations, etiology, assessment, diagnosis and treatment are reviewed in this article.
Margolin, David H.; Kousi, Maria; Chan, Yee-Ming
and a deubiquitinase, respectively, were found in three affected siblings in a consanguineous family. Additional screening identified compound heterozygous truncating mutations in RNF216 in an unrelated patient and single heterozygous deleterious mutations in four other patients. Knockdown of rnf216 or otud4...
Sykora, P.; Vicenova, A.; Svecova, L.; Kolnikova, M.
Several chromosomal syndromes include brain dysfunction symptoms as mental retardation, developmental speech disorders and epilepsy. Authors present a case report of Angelman syndrome – neuro behavioral disorder associated with deletion in the maternal chromosome 15q 11-g13 causing mutation of the UBE3A gene. The main features consist of psychomotor retardation, developmental speech disorder, ataxia, tremor, hyperactivity, clapping hands, inadequate laughter and happiness, attention deficit and epilepsy. The later starts before the 3rd year of age in form of atypical absences, myoclonic and generalized tonic-clonic seizures. EEG typically shows episodes of slow activity with sharp waves occipitally. Prognosis is poor. Genetic syndromes importantly contribute to the etiology of epilepsy with early seizures. (author)
DeForte, Shelly; Reddy, Krishna D; Uversky, Vladimir N
The current literature on intrinsically disordered proteins is overwhelming. To keep interested readers up to speed with this literature, we continue a “Digested Disorder” project and represent a series of reader’s digest type articles objectively representing the research papers and reviews on intrinsically disordered proteins. The only 2 criteria for inclusion in this digest are the publication date (a paper should be published within the covered time frame) and topic (a paper should be dedicated to any aspect of protein intrinsic disorder). The current digest issue covers papers published during the period of April, May, and June of 2013. The papers are grouped hierarchically by topics they cover, and for each of the included paper a short description is given on its major findings. PMID:28516028
Reddy, Krishna D; DeForte, Shelly; Uversky, Vladimir N
The current literature on intrinsically disordered proteins grows fast. To keep interested readers up to speed with this literature, we continue a “Digested Disorder” project and represent a new issue of reader’s digest of the research papers and reviews on intrinsically disordered proteins. The only 2 criteria for inclusion in this digest are the publication date (a paper should be published within the covered time frame) and topic (a paper should be dedicated to any aspect of protein intrinsic disorder). The current digest issue covers papers published during the third quarter of 2013; i.e., during the period of June, July, and September of 2013. Similar to previous issues, the papers are grouped hierarchically by topics they cover, and for each of the included paper a short description is given on its major findings. PMID:28232877
Smout, André Jpm
Esophageal motor disorders, often leading to dysphagia and chest pain, continue to pose diagnostic and therapeutic problems. In the past 12 months important new information regarding esophageal motor disorders was published. This information will be reviewed in this paper. A number of studies have addressed the issue of heterogeneity in achalasia, the best defined esophageal motility disorder. The spastic esophageal motility disorders nutcracker esophagus and diffuse esophageal spasm may coexist with gastroesophageal reflux disease, which has consequences for the management of patients with these disorders. The entity labelled ineffective esophageal motility is associated with reflux esophagitis, but also with morbid obesity. For the detection of disordered transit caused by ineffective esophageal motility, application of intraluminal impedance monitoring in conjunction with manometry leads to improved diagnosis. New data on the effect of Nissen fundoplication on esophageal motility were published during the last year. Recent knowledge on the heterogeneity of achalasia and the association of spastic esophageal motor disorders and ineffective motility with reflux disease will help the clinician in the management of patients with these disorders.
Vieta, Eduard; Salagre, Estela; Grande, Iria; Carvalho, André F; Fernandes, Brisa S; Berk, Michael; Birmaher, Boris; Tohen, Mauricio; Suppes, Trisha
Bipolar disorder is a recurrent disorder that affects more than 1% of the world population and usually has its onset during youth. Its chronic course is associated with high rates of morbidity and mortality, making bipolar disorder one of the main causes of disability among young and working-age people. The implementation of early intervention strategies may help to change the outcome of the illness and avert potentially irreversible harm to patients with bipolar disorder, as early phases may be more responsive to treatment and may need less aggressive therapies. Early intervention in bipolar disorder is gaining momentum. Current evidence emerging from longitudinal studies indicates that parental early-onset bipolar disorder is the most consistent risk factor for bipolar disorder. Longitudinal studies also indicate that a full-blown manic episode is often preceded by a variety of prodromal symptoms, particularly subsyndromal manic symptoms, therefore supporting the existence of an at-risk state in bipolar disorder that could be targeted through early intervention. There are also identifiable risk factors that influence the course of bipolar disorder, some of them potentially modifiable. Valid biomarkers or diagnosis tools to help clinicians identify individuals at high risk of conversion to bipolar disorder are still lacking, although there are some promising early results. Pending more solid evidence on the best treatment strategy in early phases of bipolar disorder, physicians should carefully weigh the risks and benefits of each intervention. Further studies will provide the evidence needed to finish shaping the concept of early intervention. AJP AT 175 Remembering Our Past As We Envision Our Future April 1925: Interpretations of Manic-Depressive Phases Earl Bond and G.E. Partridge reviewed a number of patients with manic-depressive illness in search of a unifying endo-psychic conflict. They concluded that understanding either phase of illness was "elusive" and
Why do universities not give priority to education? The article suggests a formal answer on the basis of Lacan’s four discourses. Why education? Why do we learn? Is it caused by a natural curiosity or is it caused by anxiety? Is it at all possible to control the influence that we undoubtedly have...
... Videos for Educators Search English Español What Causes Bad Breath? KidsHealth / For Teens / What Causes Bad Breath? Print en español ¿Qué es lo que provoca el mal aliento? Bad breath, or halitosis , can be a major problem, ...
The causes of occupational injuries (N = 2,365) were investigated. Accidents with machinery and hand tools were the two main causes (49.9%). 89% of the patients with occupational injuries were male. The highest risk group were in the age category of 19 years or less (51.9%). This age group also
Full Text Available Beatriz Jáuregui-Garrido1, Ignacio Jáuregui-Lobera2,31Department of Cardiology, University Hospital Virgen del Rocío, 2Behavioral Sciences Institute, 3Pablo de Olavide University, Seville, SpainAbstract: Eating disorders are usually associated with an increased risk of premature death with a wide range of rates and causes of mortality. “Sudden death” has been defined as the abrupt and unexpected occurrence of fatality for which no satisfactory explanation of the cause can be ascertained. In many cases of sudden death, autopsies do not clarify the main cause. Cardiovascular complications are usually involved in these deaths. The purpose of this review was to report an update of the existing literature data on the main findings with respect to sudden death in eating disorders by means of a search conducted in PubMed. The most relevant conclusion of this review seems to be that the main causes of sudden death in eating disorders are those related to cardiovascular complications. The predictive value of the increased QT interval dispersion as a marker of sudden acute ventricular arrhythmia and death has been demonstrated. Eating disorder patients with severe cardiovascular symptoms should be hospitalized. In general, with respect to sudden death in eating disorders, some findings (eg, long-term eating disorders, chronic hypokalemia, chronically low plasma albumin, and QT intervals >600 milliseconds must be taken into account, and it must be highlighted that during refeeding, the adverse effects of hypophosphatemia include cardiac failure. Monitoring vital signs and performing electrocardiograms and serial measurements of plasma potassium are relevant during the treatment of eating disorder patients.Keywords: sudden death, cardiovascular complications, refeeding syndrome, QT interval, hypokalemia
Full Text Available Paulina Zelviene, Evaldas Kazlauskas Department of Clinical and Organizational Psychology, Vilnius University, Vilnius, Lithuania Abstract: Adjustment disorder (AjD is among the most often diagnosed mental disorders in clinical practice. This paper reviews current status of AjD research and discusses scientific and clinical issues associated with AjD. AjD has been included in diagnostic classifications for over 50 years. Still, the diagnostic criteria for AjD remain vague and cause difficulties to mental health professionals. Controversies in definition resulted in the lack of reliable and valid measures of AjD. Epidemiological data on prevalence of AjD is scarce and not reliable because prevalence data are biased by the diagnostic algorithm, which is usually developed for each study, as no established diagnostic standards for AjD are available. Considerable changes in the field of AjD could follow after the release of the 11th edition of International Classification of Diseases (ICD-11. A new AjD symptom profile was introduced in ICD-11 with 2 main symptoms as follows: 1 preoccupation and 2 failure to adapt. However, differences between the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition and ICD-11 AjD diagnostic criteria could result in diverse research findings in the future. The best treatment approach for AjD remains unclear, and further treatment studies are needed to provide AjD treatment guidelines to clinicians. Keywords: adjustment disorder, review, diagnosis, prevalence, treatment, DSM, ICD
Eswaradass Prasanna Venkatesan
Full Text Available Essential thrombocythemia (ET is a clonal myeloproliferative disorder (MPD, characterized predominantly by a markedly elevated platelet count without known cause. It is rare hematological disorder. In ET clinical picture is dominated by a predisposition to vascular occlusive events and hemorrhages. Headache, transient ischemic attack, stroke, visual disturbances and light headedness are some of the neurological manifestations of ET. Here, we describe a 55 year-old female who presented to us with generalized chorea. On evaluation, she was found to have thrombocytosis. After ruling out the secondary causes of thrombocytosis and other MPD we confirmed diagnosis of ET in her by bone marrow studies. Polycythemia vera (PV another MPD closely related to ET may be present with generalized chorea. There are few case reports of PV presenting as chorea in the literature, but none with ET. We report the first case of ET presenting as generalized chorea.
Büchel, Christian; Sommer, Martin
Stuttering, with its characteristic disruption in verbal fluency, has been known for centuries; earliest descriptions probably date back to the Biblical Moses' “slowness of speech and tongue” and his related avoidance behavior (Exodus 4, 10–13). Stuttering occurs in all cultures and ethnic groups (Andrews et al. 1983; Zimmermann et al. 1983), although prevalence might differ. Insofar as many of the steps in how we produce language normally are still a mystery, disorders like stuttering are ev...
Meier, Sandra M; Mattheisen, Manuel; Mors, Ole
BACKGROUND: Anxiety disorders and depression are the most common mental disorders worldwide and have a striking impact on global disease burden. Although depression has consistently been found to increase mortality; the role of anxiety disorders in predicting mortality risk is unclear. AIMS......: To assess mortality risk in people with anxiety disorders. METHOD: We used nationwide Danish register data to conduct a prospective cohort study with over 30 million person-years of follow-up. RESULTS: In total, 1066 (2.1%) people with anxiety disorders died during an average follow-up of 9.7 years....... The risk of death by natural and unnatural causes was significantly higher among individuals with anxiety disorders (natural mortality rate ratio (MRR) = 1.39, 95% CI 1.28-1.51; unnatural MRR = 2.46, 95% CI 2.20-2.73) compared with the general population. Of those who died from unnatural causes, 16.5% had...
In elderly, biological changes cause circadian rhythm disturbance, and sleep disorders are often observed. The risk of sleep disorders is higher in dementia patients, sleep disorders are causes of care burden increase. In treatments of sleep disorders in dementia patients, it is important to evaluate correctly about sleep disorders and to check BPSD which merges to insomnia. In clinical, nonpharmacological therapies, such as an improvement of a lifestyle and cause removal of insomnia, are first choices. In medication, when other psychological symptoms and BPSDs merge, use of an easy sleeping drug is avoided, and medication of antidepressants or atypical antipsychotics is considered, but these medications use requires cautions about insurance adaptation and side effects.
This thesis describes the measurement of brain-tissue functions in patients with movement disorders using positron emission tomography (PET). This scanning technique is a method for direct in vivo quantitation of the regional tissue content of positron emitting radionuclides in brain (or other organs) in an essentially non-invasive way. Ch. 2 outlines some general features of PET and describes the scanner which has been used for the studies in this thesis. Also the tracer methodology, as applied to data investigations of movement disorders, are discussed. Ch. 3 contains the results of the PET investigations which were performed in the study of movement disorders. The results are presented in the form of 12 papers. The main goals of these studies were the understanding of the pathophysiology of Parkinson's disease, Huntington's chorea, Steele-Richardson-Olzewski syndrome and special case reports. Ch. 4 summarizes the results of these publications and Ch. 5 concludes the main part of this thesis with a general discussion of movement disorders in relation to PET investigations. 697 refs.; 60 figs.; 31 tabs
... one or other traumatic event Drug or alcohol abuse Complications Left untreated, bipolar disorder can result in serious problems that affect every area of your life, such as: Problems related to drug and alcohol use Suicide or suicide attempts Legal or financial problems Damaged ...
... a reminder of happier times or representing beloved people or pets They feel safer when surrounded by the things ... that are part of hoarding disorder. Hoarding animals People who hoard animals may collect dozens or even hundreds of pets. Animals may be confined inside or outside. Because ...
Rao, Satish S. C.; Bharucha, Adil E.; Chiarioni, Giuseppe; Felt-Bersma, Richelle; Knowles, Charles; Malcolm, Allison; Wald, Arnold
This report defines criteria and reviews the epidemiology, pathophysiology, and management of the following common anorectal disorders: fecal incontinence (FI), functional anorectal pain, and functional defecation disorders. FI is defined as the recurrent uncontrolled passage of fecal material for at least 3 months. The clinical features of FI are useful for guiding diagnostic testing and therapy. Anorectal manometry and imaging are useful for evaluating anal and pelvic floor structure and function. Education, antidiarrheals, and biofeedback therapy are the mainstay of management; surgery may be useful in refractory cases. Functional anorectal pain syndromes are defined by clinical features and categorized into 3 subtypes. In proctalgia fugax, the pain is typically fleeting and lasts for seconds to minutes. In levator ani syndrome and unspecified anorectal pain, the pain lasts more than 30 minutes, but in levator ani syndrome there is puborectalis tenderness. Functional defecation disorders are defined by ≥2 symptoms of chronic constipation or irritable bowel syndrome with constipation, and with ≥2 features of impaired evacuation, that is, abnormal evacuation pattern on manometry, abnormal balloon expulsion test, or impaired rectal evacuation by imaging. It includes 2 subtypes: dyssynergic defecation and inadequate defecatory propulsion. Pelvic floor biofeedback therapy is effective for treating levator ani syndrome and defecatory disorders. PMID:27144630
Brown, Jacqueline A.; Russell, Samantha; Rasor, Kaitlin
Depression is among the most common mental disorders in the United States. Its diagnosis is often related to impairment of functioning across several domains, including how an individual thinks, feels, and participates in daily activities. Although depression has a relatively high prevalence among adults, the rate is alarmingly higher among…
Full Text Available Eating disorders are considered chronic diseases of civilization. The most studied and well known are anorexia and bulimia nervosa. Anorexia is considered one of the most common psychiatric problems of girls in puberty and adolescence. Due to high mortality and morbidity as well as the increasing expansion of these diseases, it is clear why the amount of research on these diseases is growing worldwide. Eating disorders lead to numerous medical complications, mostly due to late diagnosis. The main characteristic of these diseases is changed behavior in the nutrition, either as an intentional restriction of food, i.e. extreme dieting, or overeating, i.e. binge eating. Extreme dieting, skipping meals, self-induced vomiting, excessive exercise, and misuse of laxatives and diuretics for the purpose of maintaining or reducing body weight are characteristic forms of compensatory behavior of patients with eating disorder. The most appropriate course of treatment is determined by evaluating the patient’s health condition, associated with behavior and eating habits, the experience of one’s own body, character traits of personality, and consequently the development and functioning of the individual. The final treatment plan is individual. Eating disorders are a growing medical problem even in this part of the world. Prevention should be planned in cooperation with different sectors so as to stop the epidemic of these diseases.
... vertigo. If you have additional problems with motor control, such as weakness, slowness, tremor, or rigidity, you can lose your ability to recover properly from imbalance. This raises the risk of falling and injury. What are some types of balance disorders? There are more than a dozen different ...
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McPartland, James; Volkmar, Fred R.
The Pervasive Developmental Disorders are a group of neurodevelopmental disorders that include Autistic Disorder, Asperger’s Disorder, Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS), Childhood Disintegrative Disorder (CDD), and Rett’s Disorder. All feature childhood onset with a constellation of symptoms spanning social interaction and communication and including atypical behavior patterns. The first three disorders (Autistic Disorder, Asperger’s Disorder, and PDD-NOS) are currently referred to as Autism Spectrum Disorders, reflecting divergent phenotypic and etiologic characteristics compared to Rett’s Disorder and CDD. This chapter reviews relevant research and clinical information relevant to appropriate medical diagnosis and treatment. PMID:22608634
Full Text Available The circadian rhythm sleep disorders define the clinical conditions where sleep and ndash;wake rhythm is disrupted despite optimum environmental and social conditions. They occur as a result of the changes in endogenous circadian hours or non-compatibility of environmental factors or social life with endogenous circadian rhythm. The sleep and ndash;wake rhythm is disrupted continuously or in repeating phases depending on lack of balance between internal and external cycles. This condition leads to functional impairments which cause insomnia, excessive sleepiness or both in people. Application of detailed sleep anamnesis and sleep diary with actigraphy record, if possible, will be sufficient for diagnosis. The treatment aims to align endogenous circadian rhythm with environmental conditions. The purpose of this article is to review pathology, clinical characteristics, diagnosis and treatment of circadian rhythm disorder. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2016; 8(2: 178-189
HALMI, KATHERINE A.
The treatment of eating disorders is based on a multimodal model, recognizing that these disorders do not have a single cause or a predictable course. The treatment strategy is determined by the severity of illness and the specific eating disorder diagnosis. For the treatment of anorexia nervosa, the key elements are medical management, behavioral therapy, cognitive therapy and family therapy, while pharmacotherapy is at best an adjunct to other therapies. In bulimia nervosa...
Musante, Luciana; Ropers, H. Hilger
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk. For autosomal recessive ID (ARID) the recurrence risk is high and, in populations with frequent parental consanguinity, ARID is the most common form of ID. Even so, its elu...
... and Local Programs Related Topics Diabetes Nutrition Childhood Obesity Causes & Consequences Recommend on Facebook Tweet Share Compartir ... determine how a community is designed. Consequences of Obesity More Immediate Health Risks Obesity during childhood can ...
First page Back Continue Last page Overview Graphics. What causes IBD? An overly aggressive cell-mediated immune response to luminal commensal bacteria in genetically susceptible individuals. Sartor, Gastroenterology 2004.
Stratton, Kathleen; Gable, Alicia; McCormick, Marie C
In this report, the Immunization Safety Review committee examines the hypothesis of whether or not the use of vaccines containing the preservative thimerosal can cause neurodevelopmental disorders (NDDs...
Pop-Radu Cristina Corina
Full Text Available Objective: The aim of this study was to assess the serum levels of Lipoprotein(a [Lp(a] in subjects with thyroid disorders, as well as to investigate their relationship with lipid profile and the markers of thyroid function and autoimmunity, admitting that elevated Lp(a levels and dyslipidemia caused by thyroid disorders synergistically increased the atherogenic process.
V. Sequeira (Vasco); S.M. Rollins; C. Magnan (Christophe); M. van Oven (Mannis); P. Baldi (Pierre); R.M. Myers (Richard M.); J.D. Barchas (Jack D.); A.F. Schatzberg (Alan F); S.J. Watson (Stanley J); H. Akil (Huda); W.E. Bunney (William E.); M.P. Vawter (Marquis)
textabstractA considerable body of evidence supports the role of mitochondrial dysfunction in psychiatric disorders and mitochondrial DNA (mtDNA) mutations are known to alter brain energy metabolism, neurotransmission, and cause neurodegenerative disorders. Genetic studies focusing on common nuclear
... between premenstrual dysphoric disorder (PMDD) and premenstrual syndrome (PMS)? How is PMDD treated? Answers from Jacqueline M. Thielen, M.D. ... disabling extension of premenstrual syndrome (PMS). Although regular PMS and PMDD both have physical and emotional symptoms, PMDD causes ...
chronic pain and gastro- oesophageal reflux which are ... Extrinsic sleep disorders (includes medication/drug-related causes, poor sleep hygiene .... avoid functional impairment and the possible ... flow and chest and abdominal movement.
França, Katlein; Roccia, Maria Grazia; Castillo, David; ALHarbi, Mana; Tchernev, Georgi; Chokoeva, Anastasia; Lotti, Torello; Fioranelli, Massimo
Body dysmorphic disorder is a chronic psychiatric disorder characterized by excessive preoccupation with an absent or minimal physical deformity. It causes severe distress and impairs normal functioning. In the last centuries, this disorder has been mentioned in the medical literature by important mental health practitioners by different names, such as "dysmorphophobia" or "dermatologic hypochondriasis". However, not until the last century was it included among the obsessive-compulsive disorders, although its classification has changed over time.Patients with body dysmorphic disorder constantly seek cosmetic treatments in order to improve their physical appearance, which more often deteriorates their mental condition. The high prevalence of psychiatric disorders in cosmetic medical practice has led in this field of study to the new science "cosmetic psychodermatology". This paper presents a summary of important facts about body dysmorphic disorder and its description throughout the history of medicine.
... too little of it may be very short. Treatment with growth hormone can stimulate growth. People can also have too much growth hormone. Usually the cause is a pituitary gland tumor, which is not cancer. Too much growth hormone can cause gigantism in children, where their bones and their body ...
Bruder, E; Rougemont, A-L; Furlano, R I; Schneider, J F; Mayr, J; Haecker, F-M; Beier, K; Schneider, J; Weber, P; Berberich, T; Cathomas, G; Meier-Ruge, W A
Motility disorders of the esophagus comprise a heterogeneous spectrum of diseases. Primary malformations of the esophagus are now amenable to improved surgical and gastroenterological therapies; however, they often lead to persistent long-term esophageal dysmotility. Achalasia originates from impaired relaxation of the gastroesophageal sphincter apparatus. Systemic diseases may give rise to secondary disorders of esophageal motility. A number of visceral neuromuscular disorders show an esophageal manifestation but aganglionosis rarely extends into the esophagus. The growing group of myopathies includes metabolic and mitochondrial disorders with increasing levels of genetic characterization and incipient emergence of therapeutic strategies. Esophagitis with an infectious etiology causes severe dysmotility particularly in immunocompromised patients. Immunologically mediated inflammatory processes involving the esophagus are increasingly better understood. Finally, rare tumors and tumor-like lesions may impair esophageal motor function.
Mizukami, K; Naito, Y; Yoshida, M; Nakanishi, T; Koizumi, J
We present here a case with various physical and neuropsychiatric symptoms caused by the administration of carbamazepine. The patient suffering from right ophthalmic neuralgia showed fever, eczema, erythema, lymphoadenopathy, eosinophilia, vomiting, headache, dizziness, nystagmus, and various mental disorders which consisted of emotional instability, personality change, delusions of reference and persecution, depressive state, and hyperventilation syndrome during the administration of carbamazepine. The physical symptoms in the present case were conformable to the side effect of carbamazepine. The mental disorders appeared in a few days from the start of carbamazepine administration and disappeared after the discontinuation of the administration of this drug without antipsychotic therapy and have never relapsed until now. The mental disorders and the physical symptoms were in parallel with their clinical course. This kind of mental disorders induced by carbamazepine has not yet been reported.
Full Text Available The comorbidity of bipolar disorder and anxiety disorders is a well known concept. Obsessive-compulsive disorder is the most commonly seen comorbid anxiety disorder in bipolar patients. Some genetic variants, neurotransmitters especially serotonergic systems and second-messenger systems are thought to be responsible for its etiology. Bipolar disorder alters the clinical aspects of obsessive compulsive disorder and is associated with poorer outcome. The determination of comorbidity between bipolar disorder and obsessive compulsive disorder is quite important for appropriate clinical management and treatment. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2014; 6(4.000: 429-437
Castagnini, Augusto; Foldager, Leslie; Bertelsen, Aksel
Objective: To investigate mortality and causes of death of short-lived psychotic disorders, by carrying out a comparison with bipolar disorder and schizophrenia. Method: Record linkage study to the official register of causes of death of all cases aged 15–64 years who were listed for the first time...... in the Danish Psychiatric Register between 1995 and 2008 with an ICD-10 diagnosis of ‘acute and transient psychotic disorders’ (ATPDs; n = 4157), bipolar disorder (n = 3200) and schizophrenia (n = 4576). Results: A total of 232 patients (5.6%) with ATPDs, 172 (5.4%) with bipolar disorder and 233 (5...
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Major depressive disorder (MDD) is a serious health problem and will be the second leading cause of burden of disease worldwide by 2030. To be able to prevent MDD, insight into risk factors for the onset of MDD is of clear importance. On the other hand, if onset of MDD has occurred, one may argue
Rieger, Deborah; Auerbach, Sarah; Robinson, Paul; Gropman, Andrea
Lipid storage diseases, also known as the lipidoses, are a group of inherited metabolic disorders in which there is lipid accumulation in various cell types, including the central nervous system, because of the deficiency of a variety of enzymes. Over time, excessive storage can cause permanent cellular and tissue damage. The brain is particularly…
Grafodatskaya, Daria; Chung, Brian; Szatmari, Peter; Weksberg, Rosanna
Objective: Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors. Several lines of evidence suggest that epigenetics also plays an important role in ASD etiology and that it might, in fact, integrate genetic and environmental influences to dysregulate…
Full Text Available Introduction: Bipolar disorder is a psychiatric condition that is also called manic-depressive disease. It causes unusual changes in mood, energy, activity levels, and the ability to carry out day-to-day tasks. In the present study, 3 sets of data were considered and analyzed: first, all papers categorized under Bipolar Disorders in Science Citation Index Expanded (SCI-E database through 2001-2011; second, papers published by the international journal of Bipolar Disorders indexed in SCI-E during a period of 11 years; and third, all papers distributed by the international journal of Bipolar Disorders indexed in MEDLINE during the period of study. Methods: The SCI-E database was used to extract all papers indexed with the topic of Bipolar Disorders as well as all papers published by The International Journal of Bipolar Disorders. Extraction of data from MEDLINE was restricted to the journals name from setting menu. The Science of Science Tool was used to map the co-authorship network of papers published by The International Journal of Bipolar Disorders through 2009-2011. Results: Analysis of data showed that the majority of publications in the subject area of bipolar disorders indexed in SCI-E were published by The International Journal of Bipolar Disorders. Although journal articles consisted of 59% of the total publication type in SCI-E, 65% of publications distributed by The Journal of Bipolar Disorders were in the form of meetingabstracts. Journal articles consisted of only 23% of the total publications. USA was the leading country regarding sharing data in the field of bipolar disorders followed by England, Canada, and Germany. Conclusion: The editorial policy of The International Journal of Bipolar Disorders has been focused on new themes and new ways of researching in the subject area of bipolar disorder. Regarding the selection of papers for indexing, the SCI-E database selects data more comprehensively than MEDLINE. The number of papers
Planner, A.C.; Donaghy, M.; Moore, N.R.
The lumbosacral plexus represents the nerve supply to the lower back, pelvis and legs. This review will focus on diseases and disorders affecting the pathway as demonstrated by magnetic resonance imaging (MRI) and computed tomography (CT). We stress the need to review the lumbosacral plexus in patients with non-specific symptoms such as back, hip, pelvic pain, and in those who present with sciatica unaccompanied by demonstrable intervertebral disc prolapse. We illustrate that the imaging appearances may be non-specific and re-inforce the importance of the clinical history and the use of tissue sampling to achieve an accurate diagnosis
Planner, A.C.; Donaghy, M.; Moore, N.R
The lumbosacral plexus represents the nerve supply to the lower back, pelvis and legs. This review will focus on diseases and disorders affecting the pathway as demonstrated by magnetic resonance imaging (MRI) and computed tomography (CT). We stress the need to review the lumbosacral plexus in patients with non-specific symptoms such as back, hip, pelvic pain, and in those who present with sciatica unaccompanied by demonstrable intervertebral disc prolapse. We illustrate that the imaging appearances may be non-specific and re-inforce the importance of the clinical history and the use of tissue sampling to achieve an accurate diagnosis.
Simonsen, Sebastian; Heinskou, Torben; Sørensen, Per
BACKGROUND: In this naturalistic study, patients with personality disorders (N = 388) treated at Stolpegaard Psychotherapy Center, Mental Health Services, Capital Region of Denmark were allocated to two different kinds of treatment: a standardized treatment package with a preset number of treatment...... characteristics associated with clinicians' allocation of patients to the two different personality disorder services. METHODS: Patient characteristics across eight domains were collected in order to study whether there were systematic differences between patients allocated to the two different treatments....... Patient characteristics included measures of symptom severity, personality pathology, trauma and socio-demographic characteristics. Significance testing and binary regression analysis were applied to identify important predictors. RESULTS: Patient characteristics on fifteen variables differed...
Evangelia Kesidou; Roza Lagoudaki; Olga Touloumi; Kyriaki-Nefeli Poulatsidou; Constantina Simeonidou
Accumulation of aberrant proteins and inclusion bodies are hallmarks in most neurodegenerative diseases. Consequently, these aggregates within neurons lead to toxic effects, overproduction of reactive oxygen species and oxidative stress. Autophagy is a significant intracel ular mechanism that removes damaged organelles and misfolded proteins in order to maintain cel homeostasis. Excessive or insufficient autophagic activity in neurons leads to altered homeostasis and influences their survival rate, causing neurodegeneration. The review article provides an update of the role of autophagic process in representative chronic and acute neurodegenerative disorders.
Kotova, O V; Akarachkova, E S
The review of the literature on sleep disorders in epilepsy over the last two decades is presented. Paroxysmal phenomena of epileptic origin, nonepileptic paroxysms, antiepileptic drugs, polypragmasia and comorbid depression may affect sleep in epilepsy.Shortening of sleep time may cause seizures, hallucinations and depression because sleep plays an important role in the regulation of excitatory and inhibitory processes in the brain both in healthy people and in patients with epilepsy. According to the literature data, drugs (short treatment courses of hypnotics) or nonpharmacological methods should be used for treatment insomnia inpatients with epilepsy.
Neuromuscular disorders are caused by damage of the skeletal muscles or supplying nerves, in many cases due to a genetic defect, resulting in progressive disability, loss of ambulation and often a reduced life expectancy. Previously only supportive care and steroids were available as treatments, but several novel therapies are under development or in clinical trial phase. Muscle imaging can detect specific patterns of involvement and facilitate diagnosis and guide genetic testing. Quantitative MRT can be used to monitor disease progression either to monitor treatment or as a surrogate parameter for clinical trails. Novel imaging sequences can provide insights into disease pathology and muscle metabolism. (orig.)
Ullrich, R.L.; Holland, J.M.; Storer, J.B.
Radiation causes cancer. That simple fact was known by the early 1900s. Further, radiation can induce cancer in almost any tissue in animals and humans. But the cancer-causing dose may vary by 20-fold for different tissues in animals. Such variation is also seen in people who are exposed, typically, to low radiation doses. Hence, the minimum dose that causes human cancer is not known. Thus, the crucial question becomes what factors, including amount of exposure, trigger cancer. Radiation is divided into two types, ionizing and nonionizing. Of the two, ionizing radiation involves higher energies. Thus by ejecting electrons from molecules, charged particles called ion pairs are formed. They are short-lived, and often break down to form highly reactive free radicals, which are molecular fragments containing unpaired electrons. Nonionizing radiation, which involves ultraviolet light and micro- and radiowaves, causes molecular excitations such as vibrations and electron movement, but produces no ions. And though ultraviolet light causes skin cancer, ionizing radiation is, by far, the more potent carcinogen
Krysiak, Robert; Kowalcze, Karolina; Okopień, Bogusław
Thyrotoxicosis is a pathological syndrome in which tissue is exposed to excessive amounts of circulating thyroid hormones. Including its subclinical form, it is considered as one of the most frequent endocrine disorders in the general population. If not detected in a timely fashion, thyrotoxicosis can have serious health consequences. The most common forms of thyrotoxicosis include diffuse toxic goiter (Graves' disease), toxic multinodular goiter (Plummer's disease), and toxic adenoma (Goetsch's disease). The significant progress in the fields of hormonal assessment, imaging procedures and molecular biology made in recent years has brought about great improvement in the identification, differentiation and treatment of many other disorders associated with thyrotoxicosis. Therefore, this paper discusses the etiopathogenesis, clinical manifestation, biochemical abnormalities and management of thyrotropinoma, resistance to thyroid hormone, de Quervain's, silent, acute, posttraumatic and radiation-induced thyroiditis, Riedel's goiter, differentiated thyroid cancer, struma ovarii, thyrotoxicosis factitia, other forms of iatrogenic thyrotoxicosis, gestational trophoblastic disease, neonatal Graves's disease, familial nonautoimmune hyperthyroidism and McCune-Albright syndrome. On the basis of available studies, some of whom were carried out in the recent years, we provide practical guidelines for clinical endocrinologists dealing with the diagnosis and treatment of thyrotoxicosis.
Pierce, A M; Hart, C A
Over a period of 33 months in a paediatric accident and emergency department, the clinical pattern and possible causes of vulvovaginitis were studied prospectively in 200 girls presenting with genital discharge, irritation, pain, or redness. The major causes were poor hygiene and threadworms. The suspicion of sexual abuse arose in a few girls but no organisms of sexually transmitted disease were found. Urinary symptoms were common but only 20 patients had a significant bacteriuria and 40 had sterile pyuria. Specific skin problems occurred in 28 cases. Simple measures to improve hygiene and treatment of threadworms gave effective relief. Genital irritation caused urinary symptoms with no clinical evidence of infection, and it is advised that antibiotic treatment should await urine culture. Specific skin problems require help from a dermatologist. The possibility of sexual abuse must be considered especially if the vulvovaginitis is persistent or recurrent after adequate treatment. PMID:1580682
... of many muscles. The upper surface contains your taste buds. Problems with the tongue include Pain Swelling Changes in color or texture Abnormal movement or difficulty moving the tongue Taste problems These problems can have many different causes. ...
... eosinophils per microliter of blood). Low number of eosinophils A low number of eosinophils in the blood ( ... the normal number of eosinophils. High number of eosinophils The most common causes of a high number ...
Kim, Ji Min; Song, Eun Joo; Seo, Jae Seok; Nam, Eon Jeong; Kang, Young Mo
Polymyositis-like syndrome characterized by proximal muscle weakness and elevation of muscle enzymes may be a presenting manifestation of hypothyroidism. Camptocormia, which can be caused by myopathy of the paraspinal muscles, is an involuntary truncal flexion of the thoracolumbar spine while standing or walking. Among various neuromuscular disorders, hypothyroidism has not been reported in the literature as a cause of camptocormia. This is the first report of polymyositis-like syndrome with camptocormia caused by hypothyroidism.
There is a wide range of indications for radiographic evaluation of possible cerebrovascular disease, since a wide range of neurologic symptoms can be encountered secondary to ischemia. Frequently the diagnosis of cerebrovascular disease is clear on clinical grounds, but radiographic evaluation is essential both to quantify the extent of disease and establish the underlying cause (e.g., vasculitis, embolus) while excluding other causes so that the proper therapy can follow
Bernardi, Mariagiulia; Lazzeri, Lucia; Perelli, Federica; Reis, Fernando M.; Petraglia, Felice
Dysmenorrhea is a common symptom secondary to various gynecological disorders, but it is also represented in most women as a primary form of disease. Pain associated with dysmenorrhea is caused by hypersecretion of prostaglandins and an increased uterine contractility. The primary dysmenorrhea is quite frequent in young women and remains with a good prognosis, even though it is associated with low quality of life. The secondary forms of dysmenorrhea are associated with endometriosis and adenomyosis and may represent the key symptom. The diagnosis is suspected on the basis of the clinical history and the physical examination and can be confirmed by ultrasound, which is very useful to exclude some secondary causes of dysmenorrhea, such as endometriosis and adenomyosis. The treatment options include non-steroidal anti-inflammatory drugs alone or combined with oral contraceptives or progestins. PMID:28944048
Davison, Sonia L
Hypoactive sexual desire disorder (HSDD) is the most prevalent female sexual dysfunction, with estimates of prevalence approximating 10%. By definition it is a deficiency of sexual desire that causes distress. HSDD has no single cause, but physiological, psychological and socio-cultural factors underpinning female sexual desire may all be important in its development. Medical therapeutic strategies to date have concentrated on modulation of hormone levels, particularly androgen administration, yet few products have been approved for the treatment of HSDD in developed countries. More recent medical targets have included agents with 5-hydroxytryptamine agonist activity. Psychological therapeutic approaches have been infrequently studied but concentrate on cognitive behavioural therapy. HSDD is an evolving diagnosis, the existence of which has been questioned by some critics. Whilst HSDD remains the subject of ongoing research, its title and definition are under debate as a new edition of the Diagnostic and Statistical Manual of the American Psychiatric Association approaches publication in 2012.
Stokes, Victoria J; Nielsen, Morten F; Hannan, Fadil M
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present...... with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms. The causes...... of hypercalcemia in children can be classified as parathyroid hormone (PTH)-dependent or PTH-independent, and may be congenital or acquired. PTH-independent hypercalcemia, i.e. hypercalcemia associated with a suppressed PTH, is commoner in children than PTH-dependent hypercalcemia. Acquired causes of PTH...
Radbruch-Hall, D. H.; Varnes, D.J.
Landslides can cause seismic disturbances; landslides can also result from seismic disturbances, and earthquake-induced slides have caused loss of life in many countries. Slides can cause disastrous flooding, particularly when landslide dams across streams are breached, and flooding may trigger slides. Slope movement in general is a major process of the geologic environment that places constraints on engineering development. In order to understand and foresee both the causes and effects of slope movement, studies must be made on a regional scale, at individual sites, and in the laboratory. Areal studies - some embracing entire countries - have shown that certain geologic conditions on slopes facilitate landsliding; these conditions include intensely sheared rocks; poorly consolidated, fine-grained clastic rocks; hard fractured rocks underlain by less resistant rocks; or loose accumulations of fine-grained surface debris. Field investigations as well as mathematical- and physical-model studies are increasing our understanding of the mechanism of slope movement in fractured rock, and assist in arriving at practical solutions to landslide problems related to all kinds of land development for human use. Progressive failure of slopes has been studied in both soil and rock mechanics. New procedures have been developed to evaluate earthquake response of embankments and slopes. The finite element method of analysis is being extensively used in the calculation of slope stability in rock broken by joints, faults, and other discontinuities. ?? 1976 International Association of Engineering Geology.
... have cataracts. They are the leading cause of blindness in the world. By age 80, more than half of all people in the United States either will have a cataract or have had cataract surgery. Common symptoms are: Blurry vision Colors that seem faded Glare Not being able to ...
Nielen, Thijs Martinus Johannes
The reading motivation of the majority of students declines in the upper half of primary school, which implies a risk for aliteracy: Students can read but, due to lack of practice, their skills remain underdeveloped (Chapter 2). In this thesis we have explored causes and solutions for this important
P.P.J.L. Verkoeijen (Peter); S. Bouwmeester (Samantha)
textabstractRecently, researchers claimed that people are intuitively inclined to cooperate with reflection causing them to behave selfishly. Empirical support for this claim came from experiments using a 4-player public goods game with a marginal return of 0.5 showing that people contributed more
Full Text Available An on-line case of infestation caused by M. moniliformis is descripted. This rodents’ worm, belonging to acanthocephala, can be rarely responsible of human intestinal pathology. The case is the pretext for a brief revision on this parasitosis. So, biological, epidemiological, clinical and diagnostical findings are reported.
This essay claims that the declared war on drugs has failed, it has caused more harm than good, and that a new approach is necessary. The focus of analysis lays especially on the implemented drug policies of Mexico and the United States. The goal is to point out the flaws of the current policy based
Satherley, R; Howard, R; Higgs, S
To systematically review evidence concerning disordered eating practices in dietary-controlled gastrointestinal conditions. Three key questions were examined: a) are disordered eating practices a feature of GI disorders?; b) what abnormal eating practices are present in those with GI disorders?; and c) what factors are associated with the presence of disordered eating in those with GI disorders? By exploring these questions, we aim to develop a conceptual model of disordered eating development in GI disease. Five key databases, Web of Science with Conference Proceedings (1900-2014) and MEDLINE (1950-2014), PubMed, PsycINFO (1967-2014) and Google Scholar, were searched for papers relating to disordered eating practices in those with GI disorders. All papers were quality assessed before being included in the review. Nine papers were included in the review. The majority of papers reported that the prevalence of disordered eating behaviours is greater in populations with GI disorders than in populations of healthy controls. Disordered eating patterns in dietary-controlled GI disorders may be associated with both anxiety and GI symptoms. Evidence concerning the correlates of disordered eating was limited. The presence of disordered eating behaviours is greater in populations with GI disorders than in populations of healthy controls, but the direction of the relationship is not clear. Implications for further research are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.
Full Text Available Little is known about the etiology of neuropsychiatric disorders. The identification of autoantibodies targeting the N-methyl-d-aspartate receptor (NMDA-R, which causes neurological and psychiatric symptoms, has reinvigorated the hypothesis that other patient subgroups may also suffer from an underlying autoimmune condition. In recent years, a wide range of neuropsychiatric diseases and autoantibodies targeting ion-channels or neuronal receptors including NMDA-R, voltage gated potassium channel complex (VGKC complex, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPA-R, γ-aminobutyric acid receptor (GABA-R and dopamine receptor (DR were studied and conflicting reports have been published regarding the seroprevalence of these autoantibodies. A clear causative role of autoantibodies on psychiatric symptoms has as yet only been shown for the NMDA-R. Several other autoantibodies have been related to the presence of certain symptoms and antibody effector mechanisms have been proposed. However, extensive clinical studies with large multicenter efforts to standardize diagnostic procedures for autoimmune etiology and animal studies are needed to confirm the pathogenicity of these autoantibodies. In this review, we discuss the current knowledge of neuronal autoantibodies in the major neuropsychiatric disorders: psychotic, major depression, autism spectrum, obsessive-compulsive and attention-deficit/hyperactivity disorders.
Sylwia Małgorzata Słotwińska
Full Text Available Anorexia nervosa is a disease involving eating disorders. It mainly affects young people, especially teenage women. The disease is often latent and occurs in many sub-clinical and partial forms. Approximately from 0.3% to 1% of the population suffers from anorexia. It has been shown that patients with anorexia develop neurotransmitter-related disorders, leading to uncontrolled changes in the immune and endocrine systems. Interactions between cytokines, neuropeptides, and neurotransmitters play an important role in disease development. Significant malnutrition induces disorders and alterations in T-cell populations. The cellular response in patients with anorexia nervosa has been shown to be normal, although opinions on this issue are controversial. Laboratory studies on neutrophils in anorexia patients showed decreased adhesion and reduced bactericidal and cell activities. Despite such unfavourable results, patients with anorexia are resistant to infections, which are very rare in this group. Glutamine improves the performance of the human immune system. The administration of glutamine to anorexia patients, as a supplement to parenteral nutrition, has resulted in significant improvements in immune system parameters. The results of previous studies on the causes and risk factors in the development of anorexia nervosa are still ambiguous. One can hope that the differences and similarities between patients with anorexia nervosa and those with other forms of protein-calorie malnutrition may be helpful in determining the relationship between nutritional status and body defences and susceptibility to infection, and can help to broaden the knowledge about the aetiopathogenesis of anorexia nervosa.
Słotwińska, Sylwia Małgorzata; Słotwiński, Robert
Anorexia nervosa is a disease involving eating disorders. It mainly affects young people, especially teenage women. The disease is often latent and occurs in many sub-clinical and partial forms. Approximately from 0.3% to 1% of the population suffers from anorexia. It has been shown that patients with anorexia develop neurotransmitter-related disorders, leading to uncontrolled changes in the immune and endocrine systems. Interactions between cytokines, neuropeptides, and neurotransmitters play an important role in disease development. Significant malnutrition induces disorders and alterations in T-cell populations. The cellular response in patients with anorexia nervosa has been shown to be normal, although opinions on this issue are controversial. Laboratory studies on neutrophils in anorexia patients showed decreased adhesion and reduced bactericidal and cell activities. Despite such unfavourable results, patients with anorexia are resistant to infections, which are very rare in this group. Glutamine improves the performance of the human immune system. The administration of glutamine to anorexia patients, as a supplement to parenteral nutrition, has resulted in significant improvements in immune system parameters. The results of previous studies on the causes and risk factors in the development of anorexia nervosa are still ambiguous. One can hope that the differences and similarities between patients with anorexia nervosa and those with other forms of protein-calorie malnutrition may be helpful in determining the relationship between nutritional status and body defences and susceptibility to infection, and can help to broaden the knowledge about the aetiopathogenesis of anorexia nervosa.
Full Text Available Burning mouth disorder (BMD is a burning or stinging sensation affecting the oral mucosa, lips and/or tongue, in the absence of clinically visible mucosal lesions. There is a strong female predilection, with the age of onset being approximately 50 years. Affected patients often present with multiple oral complaints, including burning, dryness and taste alterations. The causes of BMD are multifactorial and remain poorly understood. Recently, there has been a resurgence of interest in this disorder with the discovery that the pain of burning mouth syndrome (BMS may be neuropathic in origin and originate both centrally and peripherally. The most common sites of burning are the anterior tongue, anterior hard palate and lower lip, but the distribution of oral sites affected does not appear to affect the natural history of the disorder or the response to treatment BMS may persist for many years. This article provides updated information on BMS and presents a new model, based on taste dysfunction, for its pathogenesis.
Riehl, Megan E; Keefer, Laurie
Hypnotherapy is an evidence based intervention for the treatment of functional bowel disorders, particularly irritable bowel syndrome. While similar in pathophysiology, less is known about the utility of hypnotherapy in the upper gastrointestinal tract. Esophageal disorders, most of which are functional in nature, cause painful and uncomfortable symptoms that impact patient quality of life and are difficult to treat from a medical perspective. After a thorough medical workup and a failed trial of proton pump inhibitor therapy, options for treatment are significantly limited. While the pathophysiology is likely multifactorial, two critical factors are believed to drive esophageal symptoms--visceral hypersensitivity and symptom hypervigilance. The goal of esophageal directed hypnotherapy is to promote a deep state of relaxation with focused attention allowing the patient to learn to modulate physiological sensations and symptoms that are not easily addressed with conventional medical intervention. Currently, the use of hypnosis is suitable for dysphagia, globus, functional chest pain/non-cardiac chest pain, dyspepsia, and functional heartburn. In this article the authors will provide a rationale for the use of hypnosis in these disorders, presenting the science whenever available, describing their approach with these patients, and sharing a case study representing a successful outcome.
Full Text Available Background: Bipolar disorder affects approximately 1% of the population, with diagnosis often being made during late adolescence and early adulthood, and only rarely (0.1% in the elderly. Late onset bipolar disorder in the elderly has a impact on the nature and course of bipolar disorder. Aims: The authors report a case of bipolar disorder emerging in late life (76years old with no cleary identified organic cause. Conclusion: This case highlights the importance of a broad differential diagnosis and pharmacologic management when approaching new-onset manic/depressive symptoms among geriatric patients.
Prevalence of psychiatric disorders is on the rise and causing massive global health burden which myths and misconceptions about psychiatric disorders and their available treatment abound in our society. Stigma attached with these disorders is phenomenal. This leads to avoidance of the patients in seeking prompt and appropriate treatment. This demands an instant realization of the gravity of the problems related with mental health and adoption of appropriate measures to increase awareness, in both masses and the health professionals of psychiatric disorders and their scientific treatment. (author)
Full Text Available Social Anxiety Disorder is a common disorder leading functional impairment. The comorbidity between mood disorders with social anxiety disorder is relatively common. This comorbidity impacts the clinical severity, resistance and functionality of patients. The systematic evaluation of the comorbidity in both patient groups should not be ignored and be carefully conducted. In general, social anxiety disorder starts at an earlier age than mood disorders and is reported to be predictor for subsequent major depression. The absence of comorbidity in patients with social anxiety disorder is a predictor of good response to treatment. In bipolar disorder patients with comorbid social anxiety disorder, there is an increased level of general psychopathology. Besides, they have poor outcome and increased risk of suicide. In this article, comorbidity between these two disorders has been evaluated in detail.
Murphey, David; Barry, Megan; Vaughn, Brigitte
Mental disorders are diagnosable conditions characterized by changes in thinking, mood, or behavior (or some combination of these) that can cause a person to feel stressed out and impair his or her ability to function. These disorders are common in adolescence. This "Adolescent Health Highlight" presents the warning signs of mental disorders;…
Nielsen, Rune Kristian Lundedal; Karhulahti, Veli-Matti
Whether or not gaming causes addiction continues to be debated in the scholarly literature. The American Psychiatric Association has proposed "Internet gaming disorder," a non-substance addictive disorder, in order to encourage further research on the subject. We suggest that competitive gaming......, better known as esports, might provide a unique platform on which to discuss the validity of the proposed disorder....
Nielsen, Rune Kristian Lundedal; Karhulahti, Veli-Matti
Whether or not gaming causes addiction continues to be debated in the scholarly literature. The American Psychiatric Association has proposed "Internet gaming disorder," a non-substance addictive disorder, in order to encourage further research on the subject. We suggest that competitive gaming, better known as esports, might provide a unique platform on which to discuss the validity of the proposed disorder.
Moreno-Betancur, Margarita; Lamarche-Vadel, Agathe; Rey, Grégoire
Abstract Objective To investigate a new approach to calculating cause-related standardized mortality rates that involves assigning weights to each cause of death reported on death certificates. Methods We derived cause-related standardized mortality rates from death certificate data for France in 2010 using: (i) the classic method, which considered only the underlying cause of death; and (ii) three novel multiple-cause-of-death weighting methods, which assigned weights to multiple causes of death mentioned on death certificates: the first two multiple-cause-of-death methods assigned non-zero weights to all causes mentioned and the third assigned non-zero weights to only the underlying cause and other contributing causes that were not part of the main morbid process. As the sum of the weights for each death certificate was 1, each death had an equal influence on mortality estimates and the total number of deaths was unchanged. Mortality rates derived using the different methods were compared. Findings On average, 3.4 causes per death were listed on each certificate. The standardized mortality rate calculated using the third multiple-cause-of-death weighting method was more than 20% higher than that calculated using the classic method for five disease categories: skin diseases, mental disorders, endocrine and nutritional diseases, blood diseases and genitourinary diseases. Moreover, this method highlighted the mortality burden associated with certain diseases in specific age groups. Conclusion A multiple-cause-of-death weighting approach to calculating cause-related standardized mortality rates from death certificate data identified conditions that contributed more to mortality than indicated by the classic method. This new approach holds promise for identifying underrecognized contributors to mortality. PMID:27994280
Eggermann, Thomas; Perez de Nanclares, Guiomar; Maher, Eamonn R
Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA...... sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical...
Hulme, Charles; Snowling, Margaret J
We review current knowledge about the nature of reading development and disorders, distinguishing between the processes involved in learning to decode print, and the processes involved in reading comprehension. Children with decoding difficulties/dyslexia experience deficits in phoneme awareness, letter-sound knowledge and rapid automatized naming in the preschool years and beyond. These phonological/language difficulties appear to be proximal causes of the problems in learning to decode print in dyslexia. We review data from a prospective study of children at high risk of dyslexia to show that being at family risk of dyslexia is a primary risk factor for poor reading and children with persistent language difficulties at school entry are more likely to develop reading problems. Early oral language difficulties are strong predictors of later difficulties in reading comprehension. There are two distinct forms of reading disorder in children: dyslexia (a difficulty in learning to translate print into speech) and reading comprehension impairment. Both forms of reading problem appear to be predominantly caused by deficits in underlying oral language skills. Implications for screening and for the delivery of robust interventions for language and reading are discussed.
College students may be misdiagnosed as personality disordered when in fact their problems are better explained by their upbringing. Growing up with a personality disordered parent may cause them to initially present with what appear to be personality disordered traits due to issues such as not learning adequate coping skills. Accurate diagnosis…
Burdette, Dara L.; Yarbrough, Melanie L.; Orth, Kim
Vibrio parahaemolyticus (V. parahaemolyticus) is a gram-negative halophillic bacterium that causes worldwide seafood-borne gastroenteritis. The prevalence of V. parahaemolyticus in the environment and incidence of infection have been linked to rising water temperatures caused by global warming. Among its virulence factors, V. parahaemolyticus harbors two type III secretion systems (T3SS). Recently, we have shown that T3SS1 induces rapid cellular death that initiates with acute autophagy, as measured by LC3 lipidation and accumulation of early autophagosomal vesicles. While not the first characterized pathogen to usurp autophagy, this is the first example of an extracellular pathogen that exploits this pathway for its own benefit. Here we discuss possible roles for the induction of autophagy during infection and discuss how V. parahaemolyticus-induced autophagy provides insight into key regulatory steps that govern the decision between apoptosis and autophagy. PMID:19011375
Gustavo Sandoval Betancour
Full Text Available The article examines the main causes of labor informality in order to verify the validity of classical theories that explain unemployment in market economies and its relationship to informality. Methodologically, the project was based, in the empirical part, on international statistics, comparing the evolution of labor market structure in a combined sample of highly industrialized countries and other less industrialized ones. Empirical evidence supports the conclusion that the classical economic theory of Marxist origin is inefficient to explain the causes of unemployment in contemporary market economies, as well as it fails to satisfactorily explain informality. On the contrary, we conclude that the theory in question is more relevant to explain informality in centrally planned economies where this phenomenon has been present even more significantly than in free market economies.
Bandelow, Borwin; Michaelis, Sophie; Wedekind, Dirk
Anxiety disorders (generalized anxiety disorder, panic disorder/agoraphobia, social anxiety disorder, and others) are the most prevalent psychiatric disorders, and are associated with a high burden of illness. Anxiety disorders are often underrecognized and undertreated in primary care. Treatment is indicated when a patient shows marked distress or suffers from complications resulting from the disorder. The treatment recommendations given in this article are based on guidelines, meta-analyses...
produce a full explanation. While related, this problem dif- fers from the problem of determining actual causes where the focus is on identifying...1987]. We prove that the decision problem for causal slices is DP1 - complete. DP1 is the class of computational problems that can be solved using an NP ...machine and a co- NP machine simultaneously. Based on this result, we further show that the decision problem for causal histories is in ΠP2 . Closely
Anaerobic digestion foaming has been encountered in several sewage treatment plants in the UK. Foaming has raised major concerns for the water utilities due to significant impacts on process efficiency and operational costs. Several foaming causes have been suggested over the past few years by researchers. However, the supporting experimental information is limited and in some cases site specific. The present report aimed to provide a better understanding of the anaerobic di...
This paper explores the concept of hacktivism, which is hacking for a political or social cause on the Internet. Generally hackers, even those hacking government–sponsored sites, have been negatively stereotyped as malicious thrill seekers or, worse yet, cyberterrorists. But increasingly there are more politically motivated hackers distancing themselves from cyberterrorism by engaging in hacktivism that is intent more upon disruption than disobedience. Certain hacktivists, in fact, have creat...
Buitelaar, Jan K; Smeets, Kirsten C; Herpers, Pierre; Scheepers, Floor; Glennon, Jeffrey; Rommelse, Nanda N J
Conduct disorder (CD) is a frequently occurring psychiatric disorder characterized by a persistent pattern of aggressive and non-aggressive rule breaking antisocial behaviours that lead to considerable burden for the patients themselves, their family and society. This review paper updates diagnostic and therapeutic approaches to CD in the light of the forthcoming DSM-5 definition. The diagnostic criteria for CD will remain unchanged in DSM-5, but the introduction of a specifier of CD with a callous-unemotional (CU) presentation is new. Linked to this, we discuss the pros and cons of various other ways to subtype aggression/CD symptoms. Existing guidelines for CD are, with few exceptions, already of a relatively older date and emphasize that clinical assessment should be systematic and comprehensive and based on a multi-informant approach. Non-medical psychosocial interventions are recommended as the first option for the treatment of CD. There is a role for medication in the treatment of comorbid syndromes and/or in case of insufficient response to psychosocial interventions and severe and dangerous aggressive and violent behaviours.
向圣锦; 王勤美; 吴伟深; 韦企平
目的 总结首诊于眼科的抽动障碍(TD)的临床特征及其被误诊或漏诊的原因.方法 分析2009年2～11月以"眨眼"为主诉首诊于眼科618例患者中诊断为TD患者的临床资料.结果 (1)最终诊断为TD者187例,占"眨眼"为主诉患儿的30.3%,男女均列为4.2:1,其中短暂性抽动(TTD)102例(54.5%),慢性抽动(CTD)62例(33.2%),多发性抽动(TS)23例(12.3%).(2)主诉为单纯眨眼123例(65.8%),伴眼部其他不适64例(34.2%);78例(41.7%)眼部无阳性体征,67例(35.8%)有结膜充血、滤泡或乳头,42例(22.5%)伴有眼部其他体征;全部以运动抽动首发,37例伴发声抽动;抽动部位主要位于头面部(73.7%),抽动形式主要为简单抽动(91.7%);合并有精神损害47例(25.1%),其中35例为ADHD.(3)误诊情况:243例有外院就诊史的"眨眼"患者最终被诊断为TD81例,其中58例漏诊或误诊(23.9%).结论 (1)抽动障碍是异常眨眼的主要原因之一.(2)首诊于眼科的TD多为TTD,抽动部位多位于头面部,以运动抽动为主,抽动形式主要为简单抽动;合并精神行为损害较少.(3)首诊于眼科的TD可合并眼部器质性病变同时存在;(4)误诊的原因主要是眼科医生认识混乱以及病情较轻,易被忽视所致;而与眼部器质性病变同时存在则是漏诊的主要原因.%Objective To determine the clinical characteristics and the causes of misdiagnosis or missed diagnosis with tic disorders first-consultation in department of ophthalmology. Methods All 618 consecutive patients in children less than 16 years of age who had excessive blinking as their sole or major chief complaint underwent detailed history and ophthalmologic examination. Results (1) TD was diagnosed 187 of 61 g cases, the percentage was 30.3%, boys outnumbered girls at a ratio of 4.2:1, 102 patients had transient tic disorders (TTD), 62 had chronic tic disorders (CTD), and 23 had Tourette's syndrome (TS). (2) 123 patients (65.8%) had only eye tics as their chief
Paulo Eduardo Przysiezny
Full Text Available INTRODUCTION: Dysphonia is the main symptom of the disorders of oral communication. However, voice disorders also present with other symptoms such as difficulty in maintaining the voice (asthenia, vocal fatigue, variation in habitual vocal fundamental frequency, hoarseness, lack of vocal volume and projection, loss of vocal efficiency, and weakness when speaking. There are several proposals for the etiologic classification of dysphonia: functional, organofunctional, organic, and work-related voice disorder (WRVD.OBJECTIVE: To conduct a literature review on WRVD and on the current Brazilian labor legislation.METHODS: This was a review article with bibliographical research conducted on the PubMed and Bireme databases, using the terms "work-related voice disorder", "occupational dysphonia", "dysphonia and labor legislation", and a review of labor and social security relevant laws.CONCLUSION: WRVD is a situation that frequently is listed as a reason for work absenteeism, functional rehabilitation, or for prolonged absence from work. Currently, forensic physicians have no comparative parameters to help with the analysis of vocal disorders. In certain situations WRVD may cause, work disability. This disorder may be labor-related, or be an adjuvant factor to work-related diseases.
Nishino, Shinya; Katsuno, Shuji; Goda, Masaki
We investigate the effects of off-diagonal disorder on localization properties in quantum bond percolation networks on cubic lattices, motivated by the finding that the off-diagonal disorder does not always enhance the quantum localization of wavefunctions. We numerically construct a diagram of the 'percolation threshold', distinguishing extended states from localized states as a function of two degrees of disorder, by using the level statistics and finite-size scaling. The percolation threshold increases in a characteristic way on increasing the disorder in the connected bonds, while it gradually decreases on increasing the disorder in the disconnected bonds. Furthermore, the exchange of connected and disconnected bonds induced by the disorder causes a dramatic change of the percolation threshold.
Gokce Nur Say
Full Text Available Oxytocin is a neuropeptide that plays critical role in mother-infant bonding, pair bonding and prosocial behaviors. Several neuropsychiatric disorders such as autism, schizophrenia, affective disorders, anxiety disorders, attention deficit/hyperactivity disorder, alcohol/substance addiction, aggression, suicide, eating disorders and personality disorders show abnormalities of oxytocin system. These findings have given rise to the studies searching therapeutic use of oxytocin for psychi-atric disorders. The studies of oxytocin interventions in psychiatric disorders yielded potentially promising findings. This paper reviews the role of oxytocin in emotions, behavior and its effects in psychiatric disorders. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2016; 8(2: 102-113
Skaaby, T; Husemoen, L L N; Thuesen, Betina Heinsbæk
BACKGROUND: Atopy is the familial or personal propensity to develop immunoglobulin E (IgE) antibodies against common environmental allergens and is associated with high risk of allergic disease. It has been proposed that atopy may have effects on risk of cardiovascular disease and cancer...... followed by linkage to the Danish Registry of Causes of Death to obtain information on mortality status and cause of death (median follow-up time 11.3 years). The relative mortality risk was estimated by Cox regression and expressed as hazard ratios, HRs (95% confidence intervals, CIs). RESULTS: A total...... of 1776 person died during follow-up. The mortality risk for atopics vs. non-atopics was: for all-cause mortality (HR = 1.03, 95% CI: 0.90, 1.17); neoplasms (HR = 0.86, 95% CI: 0.69, 1.06); endocrine, nutritional and metabolic disorders (HR = 1.48, 95% CI: 0.71, 3.08); mental and behavioural disorders (HR...
This thesis concerns addictive substance abuse in women suffering from eating disorders. In the theoretical part it defines the term eating disorder itself and furthermore briefly works with the cause of these disorders, patients' personality and commonly associating complicating diagnoses. Afterwards it defines the term addiction and illustrates some of the possible influences on development. Then it characterises commonly abused substances and their relation with eating disorders. The empir...
This thesis focuses on problem behavior, its manifestations and causes of origin in children with autism spectrum disorders. The thesis is divided into two parts, the theoretical and empirical. The theoretical part focuses on introduction to issues of autism spectrum disorders and problem behavior. Mentioned here is history and etiology of disorders, also the part deals with autistic triad of disability. Among others I try briefly characterize various autism spectrum disorders focusing on inf...
This paper sets out Kant's anthropological account of mental disorder. I begin with a discussion of the nature of Kant's 'pragmatic anthropology' and the implications of the fact that his discussion of mental disorder takes place in that context. I then set out Kant's taxonomy of the mind and discuss the various disorders affecting the cognitive faculty and the faculties of feeling and desire. I end with a brief discussion of Kant's views on the causes, preventions, and treatments of mental disorder.
V. Sequeira (Vasco); M.V. Martin (Maureen); S.M. Rollins; E.A. Moon (Emily); W.E. Bunney (William E); F. MacCiardi (Fabio); S. Lupoli (Sara); G.D. Smith; J. Kelsoe (John); C.N. Magnan (Christophe); M. van Oven (Mannis); P. Baldi (Pierre); D.C. Wallace; M.P. Vawter (Marquis)
textabstractMitochondrial deficiencies with unknown causes have been observed in schizophrenia (SZ) and bipolar disorder (BD) in imaging and postmortem studies. Polymorphisms and somatic mutations in mitochondrial DNA (mtDNA) were investigated as potential causes with next generation sequencing of
Kim, Young Tong [Soonchunhyang Univ. Cheonan Hospital/Soonchunhyang Univ. College of Medicine, Cheonan (Korea, Republic of)
Gynecologic disorders that cause pelvic pain in adolescents include hemorrhagic ovarian cysts, rupture or torsion of ovarian cyst or tumors, hematocolpos caused by vaginal obstruction, endometriosis, cystic uterine adenomyosis, pelvic inflammatory diseases, and pelvic inclusion cyst. The use of CT for the evaluation of pelvic pain is increasing, and CT is useful if ultrasound findings are not decisive and the lesion is extensive.
Kjærgaard, Peter C.
As we are being flooded by Darwin lollipops, t-shirts, quills and stamps it is becoming increasingly difficult to be heard or seen in the commercialised celebration in 2009. Some are in the business for the science, but a lot are in it for profit. Accordingly, the Darwin industry has left the hands...... of scholarly specialists and been appropriated by money makers. One could not help thinking about this as, in the autumn of 2008, the publisher began hyping Darwin's Sacred Cause as ‘one of the major contributions to the worldwide Darwin anniversary celebrations in 2009' Udgivelsesdato: February...
This essay claims that the declared war on drugs has failed, it has caused more harm than good, and that a new approach is necessary. The focus of analysis lays especially on the implemented drug policies of Mexico and the United States. The goal is to point out the flaws of the current policy based on prohibition and persecution by analyzing its origins and comparing the current approach with the failures of the alcohol prohibition in the 1920s in the United States. One of the main points th...
Siwiec, H; Szymański, M; Szymańska, A; Klatka, J
Evaluation of 265 patients treated in hospital due to nasal bleeding revealed that almost half of them suffered from hypertension and in about 30% of cases it was impossible to establish the cause of epistaxis. The most frequent way to stop the bleeding was anterior nasal packing and in case of failure posterior nasal packing together with anterior one. Posterior nasal packing with Foley's catheter is relatively simple and effective procedure. Introduction of superselective embolization of maxillary artery and dermoplasty in Rendu-Osler disease was very helpful.
Laura Beth Mann Dosier
Full Text Available Genetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as “rare disease,” but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader–Willi syndrome, Smith–Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy. Each disorder is presented in the following format: overview, clinical characteristics, developmental aspects, associated sleep disorders, management and research/future directions.
Eating disorders are severe and disabling mental disorders. The scientific study of eating disorders has expanded dramatically over the past few decades, and provided significant understanding of eating disorders and their treatments. Those significant advances notwithstanding, there is scant knowledge about key processes that are crucial to clinical improvement. The lack of understanding mechanisms that cause, maintain and change eating disorders, currently is the biggest problem facing the science of eating disorders. It hampers the development of really effective interventions that could be fine-tuned to target the mechanisms of change and, therefore, the development of more effective treatments. It is argued here that the science of eating disorders and eating disorder treatment could benefit tremendously from pure experimental studies into its mechanisms of change, that is, experimental psychopathology (EPP). To illustrate why eating disorders need more EPP research, some key symptoms - restriction of intake, binge eating and body overvaluation - will be discussed. EPP studies challenge some generally accepted views and offer a fresh new look at key symptoms. This will, consequently, better inform eating disorder treatments. Copyright © 2016. Published by Elsevier Ltd.
Michelle A Miller
It is becoming increasingly apparent that sleep plays an important role in the maintenance, disease prevention, repair and restoration of both mind and body. The sleep and wake cycles are controlled by the pacemaker activity of the superchiasmic nucleus in the hypothalamus but can be disrupted by diseases of the nervous system causing disordered sleep. A lack of sleep has been associated with an increase in all–cause mortality. Likewise, sleep disturbances and sleep disorders may disrupt neu...
Trichopoulos, D.; Li, F.P.; Hunter, D.J.
Cancer, a major killer throughout human history, changed its grasp as humankind advanced industrially and technologically. Although the risk of a few types of cancer has declined dramatically in developed countries in this century, the incidence of the most significant forms of the disease has increased. Cancers of the lung, breast, prostate and colon and rectum have all become more frequent in countries where risk factors such as cigarette smoking, unhealthful dietary habits and exposure to dangerous chemicals at work or in the environment are now more common. As industrialization has proliferated, so, too, have the suspected causes of cancer. In recent years, news accounts have been full of warnings about all manner of modern conveniences, from pharmaceuticals to cellular telephones. Meanwhile the pace of technological advance makes it more vital than ever to single out definitive causes of cancer from an ever expanding array of possibilities. For this daunting task, researchers rely heavily on epidemiology. Epidemiologists identify factors that are common to cancer victims’ history and way of life and evaluate them in the context of current biological understanding. Ultimately, the evidence may persuade researchers that one or more of these factors or characteristics “cause” the disease— that is to say, exposure to them significantly increases the odds of the illness developing
Carod-Artal, F J
Eighty-five percent of all epileptics live in tropical regions. Prenatal risk factors, traumatic brain injuries and different parasitic infestations of the central nervous system (CNS) are the reasons behind the high prevalence of epilepsy. This work reviews the main parasitic infestations causing epilepsy in the tropics. Neurocysticercosis is the main cause of focal epilepsy in early adulthood in endemic areas (30-50%). All the phases of cysticerci (viable, transitional and calcified) are associated with epileptic seizures. Anti-cysticercus treatment helps get rid of cysticerci faster and reduces the risk of recurrence of seizures in patients with viable cysts. Symptomatic epilepsy can be the first manifestation of neuroschistosomiasis in patients without any systemic symptoms. The pseudotumoral form can trigger seizures secondary to the presence of granulomas and oedemas in the cerebral cortex. The eggs of Schistosoma japonicum are smaller, reach the CNS more easily and trigger epileptic seizures more frequently. Toxocariasis and sparganosis are other parasitic infestations that can give rise to symptomatic seizures. The risk factors for suffering chronic epilepsy after cerebral malaria are a positive familial history of epilepsy and a history of episodes of fever and cerebral malaria that began with coma or which progressed with multiple, prolonged epileptic seizures. About 20% of patients with cerebral infarction secondary to Chagas disease present late vascular epilepsy as a complication. Very few studies have been conducted to examine the prognosis, risk of recurrence and modification of the natural course of seizures associated with tropical parasitic infestations, except for the case of neurocysticercosis.
Lydecker, Janet A.; Grilo, Carlos M.
Objective A limited literature suggests an association between maternal eating disorders and child feeding difficulties, and notes maternal concern about inadvertently transmitting eating disorders. Thus, parents may be an important target for eating-disorder research to guide the development of clinical programs. Methods The current study examined differences in child eating-disorder behaviors and parental feeding practices between a sample of parents (42 fathers, 130 mothers) exhibiting core features of anorexia nervosa, bulimia nervosa, binge-eating disorder, or purging disorder, and a matched sample of parents (n=172) reporting no eating-disorder characteristics. Results Parents with eating-disorder psychopathology were significantly more likely than parents without eating-disorder characteristics to report child binge-eating and compulsive exercise. Parents with eating-disorder psychopathology reported greater perceived feeding responsibility, greater concern about their child’s weight, and more monitoring of their child’s eating than parents without eating-disorder characteristics; however, they did not differ significantly in restriction of their child’s diet and pressure-to-eat. Child body mass index z-scores did not differ between parents with versus without eating-disorder characteristics. Conclusion Our findings suggest some important differences between parents with and without core eating-disorder psychopathology, which could augment clinical interventions for patients with eating disorders who are parents, or could guide pediatric eating-disorder prevention efforts. However, because our study was cross-sectional, findings could indicate increased awareness of or sensitivity to eating-disorder behaviors rather than a psychosocial cause of those behaviors. Longitudinal research and controlled trials examining prevention and intervention can clarify and address these clinical concerns. PMID:27302549
Spindler, Ulrike Petra; Hotopp, Lena Charlott; Bach, Vivien Angela; Hornemann, Frauke; Syrbe, Steffen; Andreas, Anna; Merkenschlager, Andreas; Kiess, Wieland; Bernhard, Matthias Karl; Bertsche, Thilo; Neininger, Martina Patrizia; Bertsche, Astrid
Seizure disorder and developmental disorder are two of the most common chronic disorders in childhood. Data on perceived parental burden and specific effects on daily life is scarce. We performed a structured interview, consecutively talking to all parents of pediatric outpatients of our university hospital diagnosed with seizure or developmental disorder. Three hundred seven parents (of 317 affected children: 53 with seizure disorder, 44 with specific developmental disorder, 35 with learning disorder, 71 with intellectual disability, 15 with seizure + specific developmental disorder, 23 with seizure + learning disorder, 76 with seizure disorder + intellectual disability) were interviewed. Parents of children with both seizure disorder and intellectual disability stated the highest constraints in daily life, regarding friends, hobbies, emotional pressure, occupation, partnership, habitation, and financial burden. Due to diagnosis of seizure or developmental disorder, 155/307 (51%) parents reduced their working hours/stopped working, 62/307 (20%) changed their habitation, and 46/307 (15%) broke up. As judged by parents, 148/317 (47%) children are being discriminated against, even own family/friends and educators are held responsible. Parents perceive changes in their daily life and discrimination of their children due to their children's seizure and developmental disorders. An intellectual disability combined with seizure disorder caused the highest constraint. What is Known: • Seizure and/or developmental disorders of children may adversely influence quality of life for affected parents. • Caring for a child with special health care needs can take complete attention and own parental needs may therefore be difficult to meet. What is New: • Two out of three parents stated changes of their daily life such as quitting work, change of habitation, or breakup of partnership due to their child's diagnosis. • As judged by the parents, one in two children with
Full Text Available Osteopetrosis is a rare congenital disorder of bone resorption, caused by failure of osteoclasts to reabsorb immature bone. Malignant infantile osteopetrosis presents in early life with generalized osteosclerosis and decreased bone marrow spaces, resulting in anemia, splenohepatomegaly due to extramedullary hematopoiesis, cranial nerve compression, and growth failure. It is a fatal condition with death occurring within the first year of life. Bone marrow transplant remains the only curative treatment. We present a report of an infant with splenohepatomegaly, who was diagnosed with malignant infantile osteopetrosis.
Jack, R A; Mathew, R J
Pathologic anxiety, marked by inappropriate apprehension and/or fear, causes patients to seek help. Anxiety is associated with a wide variety of physical illnesses, and these must be initially considered when making a diagnosis. Similarly, anxiety associated with a wide variety of psychiatric syndromes must also be considered. Finally, the possibility of transient situational anxiety is ever present. Once it is determined that a primary anxiety disorder exists, then the presence or absence of phobias, panic attacks, and chronic "free-floating" anxiety will fully characterize the disorder. With an accurate diagnosis in hand, a multifaceted treatment approach can be designed. Effective treatments now exist for phobic and panic disorders, and more effective treatment for chronic generalized anxiety may be forthcoming.
Full Text Available Hypocalcaemia is a state with total calcium serum level below 2.25 mM/l. From the total serum calcium content, 50% is free and ionized, 40% is protein-bound and 10% is bound for organic anions. The most frequent causes of hypocalcaemia are iatrogenic hypoparathyroidism, magnesium deficit, disorders of vitamin D metabolism and chronic renal failure. Iatrogenic hypoparathyroidism is associated with low serum ionized calcium and low serum parathormone levels. There are two important clinical signs of hypocalcemia: Chvostek's sign (twitches of upper lip after percussion on facial nerve over mandible and Trousseau's sign (carpal spasm after increasing pressure in blood pressure cuff placed about the upper arm for 20 milimeters above systolic pressure for 3-5 minutes. The following lab analyses should be performed when hypocalcaemia is an option: serum levels of creatinine, calcium, magnesium, 25 - hydroxyvitamin, parathormone, potassium, sodium, chloride and bicarbonates. If hypocalcaemia is mild, it could be treated with oral calcium preparations, usually calcium carbonate, in a dose of 1 to 2 grams of elemental calcium daily. In more severe hypocalcaemia intravenous calcium-gluconate or calcium-chloride should be administered, as 10% solutions. These parenteral preparations of calcium should be diluted prior to the intravenous administration, and the administration should be longer than 20 minutes in order to avoid adverse effects on heart. If administration of calcium does not correct hypocalcaemia, oral vitamin D should be also prescribed. If this does not regulate calcaemia, from 0.25 to 1 micrograms of 1,25-dihydroxyvitamin D (clacitriol daily should be prescribed. Calcium serum levels should be kept within the lower part of normal serum concentration range.
... Safe Videos for Educators Search English Español Posttraumatic Stress Disorder (PTSD) KidsHealth / For Parents / Posttraumatic Stress Disorder ( ... My Child? Looking Ahead Print What Is Posttraumatic Stress Disorder (PTSD)? Someone who is the victim of ( ...
R. Hoekstra (Rocco)
textabstractThe pathophysiology of affective disorders is largely unknown. In patients with various affective disorders the activity of pterins and related amino acids were investigated before and after clinical treatment. In particular the bipolar affective disorder could be
Phobia - social; Anxiety disorder - social; Social phobia; SAD - social anxiety disorder ... People with social anxiety disorder fear and avoid situations in which they may be judged by others. It may begin in ...