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Sample records for progeria syndrome hgps

  1. A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.

    Science.gov (United States)

    Denecke, Jonas; Brune, Thomas; Feldhaus, Tobias; Robenek, Horst; Kranz, Christian; Auchus, Richard J; Agarwal, Anil K; Marquardt, Thorsten

    2006-06-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by a spontaneous heterozygous mutation in the LMNA gene that codes for the nuclear lamina protein lamin A. Several enzymes are involved in the processing of its precursor, prelamin A, to the mature lamin A. A functional knockout of one of the enzymes involved in prelamin A processing, the zinc metalloprotease ZMPSTE24, causes an even more severe disorder with early neonatal death described as restrictive dermatopathy (RD). This work describes a HGPS patient with a combined defect of a homozygous loss-of-function mutation in the ZMPSTE24 gene and a heterozygous mutation in the LMNA gene that results in a C-terminal elongation of the final lamin A. Whereas the loss of function mutation of ZMPSTE24 normally results in lethal RD, the truncation of LMNA seems to be a salvage alteration alleviating the clinical picture to the HGPS phenotype. The mutations of our patient indicate that farnesylated prelamin A is the deleterious agent leading to the HGPS phenotype, which gives further insights into the pathophysiology of the disorder. Copyright 2006 Wiley-Liss, Inc.

  2. Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS.

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    Martina Plasilova

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a genetic disorder displaying features reminiscent of premature senescence caused by germline mutations in the LMNA gene encoding lamin A and C, essential components of the nuclear lamina. By studying a family with homozygous LMNA mutation (K542N, we showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C. Here, we aimed to elucidate the molecular mechanisms underlying the pathogenesis in both, lamin A- (sporadic and lamin A and C-related (hereditary HGPS. For this, we performed detailed molecular studies on primary fibroblasts of hetero- and homozygous LMNA K542N mutation carriers, accompanied with clinical examinations related to the molecular findings. By assessing global gene expression we found substantial overlap in altered transcription profiles (13.7%; 90/657 in sporadic and hereditary HGPS, with 83.3% (75/90 concordant and 16.7% (15/90 discordant transcriptional changes. Among the concordant ones we observed down-regulation of TWIST2, whose inactivation in mice and humans leads to loss of subcutaneous fat and dermal appendages, and loss of expression in dermal fibroblasts and periadnexial cells from a LMNA(K542N/K542N patient further confirming its pivotal role in skin development. Among the discordant transcriptional profiles we identified two key mediators of vascular calcification and bone metabolism, ENPP1 and OPG, which offer a molecular explanation for the major phenotypic differences in vascular and bone disease in sporadic and hereditary HGPS. Finally, this study correlates reduced TWIST2 and OPG expression with increased osteocalcin levels, thereby linking altered bone remodeling to energy homeostasis in hereditary HGPS.

  3. Progeria

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    Mohamed Riyaz S

    2009-01-01

    Full Text Available Hutchinson Gilford Progeria Syndrome (HGPS is a rare, sporadic, autosomal dominant syndrome that involves premature ageing and death at early age due to myocardial infarction or stroke. A 30-year-old male with clinical and radiologic features highly suggestive of HGPS is presented here with description of differential diagnosis, dental considerations and review of literature.

  4. Hutchinson-Gilford Progeria Syndrome

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    Gopal G

    2014-08-01

    Full Text Available Hutchinson-Gilford Progeria syndrome (HGPS is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life. Apart from premature aging, the other notable characteristics of children with HGPS include extreme short stature, prominent superficial veins, poor weight gain, alopecia, as well as various skeletal and cardiovascular pathologies associated with advanced age. The pattern of inheritance of HGPS is uncertain, though both autosomal dominant and autosomal recessive modes have been described. Recent genetic studies have demonstrated mutations in the LMNA gene in children with HGPS. In this article, we report a 16 years old girl who had the phenotypic features of HGPS and was later confirmed to have LMNA mutation by genetic analysis.

  5. Hutchinson-Gilford progeria syndrome

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    Zahoor Hussain Daraz

    2017-06-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare genetic disease in which symptoms of aging are manifested at an early age. In the present report, we describe a 9 months old female child presented with a history of progressive coarsening of skin, failure to thrive and irregular bumps over thighs, buttocks and lower limbs for the last 7½ months. In the course of time, she developed alopecia, hyperpigmented spots over the abdomen with thickening and a typical facial profile of HGPS including micrognathia, absent ear lobules, prominent eyes, loss of eyelashes, eyebrows and a bluish hue over the nose.

  6. Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder

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    Rajat G. Panigrahi

    2013-01-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is a follow-up study of a 9-year-old male with clinical and radiographic features highly suggestive of HGPS and presented here with description of differential diagnosis and dental consideration. This is the first case report of HGPS which showed pectus carinatum structure of chest.

  7. Hutchinson-Gilford progeria syndrome: review of the phenotype

    NARCIS (Netherlands)

    Hennekam, Raoul C. M.

    2006-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads

  8. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.

    NARCIS (Netherlands)

    Verstraeten, V.L.; Broers, J.L.; Steensel, M.A.M. van; Zinn-Justin, S.; Ramaekers, F.C.S.; Steijlen, P.M.; Kamps, M.; Kuijpers, H.J.; Merckx, D.; Smeets, H.J.M.; Hennekam, R.C.M.; Marcelis, C.L.M.; Wijngaard, A. van de

    2006-01-01

    LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect

  9. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

    NARCIS (Netherlands)

    Verstraeten, Valerie L. R. M.; Broers, Jos L. V.; van Steensel, Maurice A. M.; Zinn-Justin, Sophie; Ramaekers, Frans C. S.; Steijlen, Peter M.; Kamps, Miriam; Kuijpers, Helma J. H.; Merckx, Diane; Smeets, Hubert J. M.; Hennekam, Raoul C. M.; Marcelis, Carlo L. M.; van den Wijngaard, Arthur

    2006-01-01

    LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect

  10. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

    NARCIS (Netherlands)

    Soria-Valles, Clara; Carrero, Dido; Gabau, Elisabeth; Velasco, Gloria; Quesada, Víctor; Bárcena, Clea; Moens, Marleen; Fieggen, Karen; Möhrcken, Silvia; Owens, Martina; Puente, Diana A.; Asensio, Óscar; Loeys, Bart; Pérez, Ana; Benoit, Valerie; Wuyts, Wim; Lévy, Nicolas; Hennekam, Raoul C.; de Sandre-Giovannoli, Annachiara; López-Otín, Carlos

    2016-01-01

    Background Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently,

  11. Progeria syndrome: A case report

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    Rastogi Rajul

    2008-01-01

    Full Text Available Progeria is a rare and peculiar combination of dwarfism and premature aging. The incidence is one in several million births. It occurs sporadically and is probably an autosomal recessive syndrome. Though the clinical presentation is usually typical, conventional radiological and biochemical investigations help in confirming the diagnosis. We present a rare case of progeria with most of the radiological features as a pictorial essay.

  12. Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model

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    da Nóbrega Raphael

    2009-04-01

    Full Text Available Abstract Hutchinson-Gilford progeria syndrome (HGPS is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. The aim of this work was to compile a comprehensive literature review of the clinical features and genetic mutations and mechanisms of this syndrome as a contribution to health care workers. This review shows the necessity of a more detailed clinical identification of Hutchinson-Gilford progeria syndrome and the need for more studies on the pharmacologic and pharmacogenomic approach to this syndrome.

  13. Simultaneous Shoulder and Hip Dislocation in a 12-Year-Old Girl with Hutchinson-Gilford Progeria Syndrome

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    Shirin Mardookhpour

    2012-06-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare premature ageing disorder that is characterized by accelerated degenerative changes of the cutaneous, musculoskeletal and cardiovascular systems. Mean age at diagnosis is 2.9 years and generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. Orthopedic manifestations of HGPS are multiple and shoulder dislocation is a rare skeletal trauma in progeria syndrome. Our patient had simultaneous shoulder and hip dislocation associated with a low energy trauma. This subject has not been reported. Treatment accomplished as close reduction under general anesthesia and immobilization.

  14. Transient monoparesis following blade plate removal in a Hutchinson-Gilford progeria syndrome patient. A case report

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    Yandow, Suzanne M.; Rimoin, David L.; Grace, Aimee M.; Fillman, Ramona R.; Raney, Ellen M.

    2009-01-01

    Treating patients with Hutchinson-Gilford progeria syndrome (HGPS) are based on the abnormalities of accelerated aging that affect the healing processes, combined with a fragile cardiovascular status. A classic HGPS case is presented, of Korean ancestry, who was treated for severe coxa valga with bilateral varus osteotomies using blade plate fixation. Complications over the blade plate area required removal of the hardware, after which the patient displayed left-sided hypertonicity--determine...

  15. Transient monoparesis following blade plate removal in a Hutchinson-Gilford progeria syndrome patient. A case report

    Science.gov (United States)

    Yandow, Suzanne M.; Rimoin, David L.; Grace, Aimee M.; Fillman, Ramona R.; Raney, Ellen M.

    2010-01-01

    Treating patients with Hutchinson-Gilford progeria syndrome (HGPS) are based on the abnormalities of accelerated aging that affect the healing processes, combined with a fragile cardiovascular status. A classic HGPS case is presented, of Korean ancestry, who was treated for severe coxa valga with bilateral varus osteotomies using blade plate fixation. Complications over the blade plate area required removal of the hardware, after which the patient displayed left-sided hypertonicity--determined to be a cerebrovascular accident. Subsequently, she returned almost completely to her pre-surgical neurologic status. Perioperative planning for HGPS patients should include risks typically considered in the planning for geriatric patient care. PMID:19373113

  16. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects

    DEFF Research Database (Denmark)

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás

    2015-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that is most commonly caused by a de novo point mutation in exon 11 of the LMNA gene, c.1824C>T, which results in an increased production of a truncated form of lamin A known as progerin. In this study, we used a mouse...... progerin splicing give hope to patients who are affected by HGPS.-Strandgren, C., Nasser, H. A., McKenna, T., Koskela, A., Tuukkanen, J., Ohlsson, C., Rozell, B., Eriksson, M. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas...

  17. Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders

    NARCIS (Netherlands)

    Brune, Thomas; Bonne, Gisele; Denecke, Jonas; Elcioglu, Nursel; Hennekam, Raoul C. M.; Marquardt, Thorsten; Ozgen, Heval; Stamsnijder, Marjet; Steichen, Elisabeth; Steinmann, Beat; Wehnert, Manfred; Levy, Nicolas

    2004-01-01

    Progeria is a rare, genetically determined condition characterized by accelerated aging in children. Its name is derived from Greek (Geron) and means "prematurely old". The classic type is the Hutchinson-Gilford Progeria Syndrome (HGPS), which was first described in England in 1886 by Dr. Jonathan

  18. Using drug treatments to control genome behaviour in normal and Hutchinson-Gilford Progeria Syndrome fibroblasts, with and without hTERT immortalisation

    OpenAIRE

    Bikkul, Mehmet Ural

    2016-01-01

    This thesis was submitted for the award of Doctor of Philosophy and was awarded by Brunel University London Hutchinson-Gilford Progeria Syndrome (HGPS) is an exceedingly rare genetic condition with striking features reminiscent of marked premature ageing. HGPS is commonly caused by a ‘classic’ mutation in the A-type lamin gene, LMNA (G608G). This leads to the expression of an aberrant truncated lamin A protein, progerin. The nuclear lamina is known to anchor chromosomes, stabilising and re...

  19. Blocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndrome

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    Wang, Yuexia; Östlund, Cecilia; Worman, Howard J

    2010-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is an accelerated aging disorder caused by mutations in LMNA leading to expression of a truncated prelamin A variant termed progerin. Whereas a farnesylated polypeptide is normally removed from the carboxyl-terminus of prelamin A during endoproteolytic processing to lamin A, progerin lacks the cleavage site and remains farnesylated. Cultured cells from human subjects with HGPS and genetically modified mice expressing progerin have nuclear morphologi...

  20. Hip pathology in Hutchinson-Gilford progeria syndrome: a report of two children.

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    Akhbari, Pouya; Jha, Shilpa; James, Kyle D; Hinves, Barry L; Buchanan, Jamie A F

    2012-11-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder. The estimated incidence is one in 4 million births. Orthopaedic manifestations include abnormality of the hips occurring early in the disease process. Severe coxa valga can be apparent by the age of 2 years. We report two cases of HGPS, one in a 7-year-old girl with avascular necrosis of the left hip and the second in a 13-year-old girl with recurrent traumatic hip dislocations. We demonstrate the pathoanatomical changes in the hip with HGPS using a combination of imaging modalities including radiographic, computed tomographic and MRI scans. These include coxa magna, coxa valga and acetabular dysplasia. We also comment on how these would affect the surgical management of this high-risk group of patients. © 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins.

  1. Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome.

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    Narazaki, Ryo; Makimura, Mika; Sanefuji, Masafumi; Fukamachi, Shigeru; Akiyoshi, Hidetaka; So, Hidenori; Yamamura, Kenichiro; Doisaki, Sayoko; Kojima, Seiji; Ihara, Kenji; Hara, Toshiro; Ohga, Shouichi

    2013-08-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease, caused by a de novo mutation of lamin-A gene, LMNA G608G. Accumulation of abnormal lamin-A (progerin) compromises nuclear membrane integrity and results in the accelerated senescence. Affected patients show a typical feature of birdlike face, alopecia, sclerotic skin, loss of subcutaneous fat, and short stature with advancing years. Neonatal scleroderma is the first presentation, although early diagnosis is challenging. The leading cause of death is cardio-/cerebro-vascular accidents associated with atherosclerosis. However, not all findings may recapitulate the aging process. We herein report a 9-year-old Japanese male with HGPS who developed cerebral infarction. The genetic study of peripheral blood-derived DNA determined a heterozygous c.1824C>T mutation, p.G608G. Telomere length of lymphocytes was normal. Bilateral stenosis of carotid siphons was prominent, while systemic arteriosclerosis was unremarkable assessed by the ankle-brachial index, carotid ultrasound imaging and funduscopic study. HGPS patients have marked loss and functional defects in vascular smooth muscle cells, leading to the vulnerability to circulatory stress. Symmetrical stenosis of siphons might occur as a distinctive cerebral vasculopathy of HGPS, rather than simple vascular senescence. Peripheral blood study on LMNA G608G and telomere length could screen progerias in infancy for early therapeutic intervention. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  2. Model of human aging: Recent findings on Werner’s and Hutchinson-Gilford progeria syndromes

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    Shian-ling Ding

    2008-09-01

    Full Text Available Shian-ling Ding1, Chen-Yang Shen2,3,41Department of Nursing, Kang-Ning Junior College of Medical Care and Management, Taipei, Taiwan; 2Institute of Biomedical Sciences, and 3Life Science Library, Academia Sinica, Taipei, Taiwan; 4Graduate Institute of Environmental Science, China Medical University, Taichong, TaiwanAbstract: The molecular mechanisms involved in human aging are complicated. Two progeria syndromes, Werner’s syndrome (WS and Hutchinson-Gilford progeria syndrome (HGPS, characterized by clinical features mimicking physiological aging at an early age, provide insights into the mechanisms of natural aging. Based on recent findings on WS and HGPS, we suggest a model of human aging. Human aging can be triggered by two main mechanisms, telomere shortening and DNA damage. In telomere-dependent aging, telomere shortening and dysfunction may lead to DNA damage responses which induce cellular senescence. In DNA damage-initiated aging, DNA damage accumulates, along with DNA repair deficiencies, resulting in genomic instability and accelerated cellular senescence. In addition, aging due to both mechanisms (DNA damage and telomere shortening is strongly dependent on p53 status. These two mechanisms can also act cooperatively to increase the overall level of genomic instability, triggering the onset of human aging phenotypes.Keywords: human aging, Hutchinson-Gilford Progeria syndrome, Werner syndrome

  3. A lamin A protein isoform overexpressed in Hutchinson–Gilford progeria syndrome interferes with mitosis in progeria and normal cells

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    Cao, Kan; Capell, Brian C.; Erdos, Michael R.; Djabali, Karima; Collins, Francis S.

    2007-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by dramatic premature aging. Classic HGPS is caused by a de novo point mutation in exon 11 (residue 1824, C → T) of the LMNA gene, activating a cryptic splice donor and resulting in a mutant lamin A (LA) protein termed “progerin/LAΔ50” that lacks the normal cleavage site to remove a C-terminal farnesyl group. During interphase, irreversibly farnesylated progerin/LAΔ50 anchors to the nuclear membrane and causes characteristic nuclear blebbing. Progerin/LAΔ50's localization and behavior during mitosis, however, are completely unknown. Here, we report that progerin/LAΔ50 mislocalizes into insoluble cytoplasmic aggregates and membranes during mitosis and causes abnormal chromosome segregation and binucleation. These phenotypes are largely rescued with either farnesyltransferase inhibitors or a farnesylation-incompetent mutant progerin/LAΔ50. Furthermore, we demonstrate that small amounts of progerin/LAΔ50 exist in normal fibroblasts, and a significant percentage of these progerin/LAΔ50-expressing normal cells are binucleated, implicating progerin/LAΔ50 as causing similar mitotic defects in the normal aging process. Our findings present evidence of mitotic abnormality in HGPS and may shed light on the general phenomenon of aging. PMID:17360355

  4. Hutchinson-Gilford progeria syndrome: a rare case report

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    Kalegowda Deepadarshan

    2016-04-01

    Full Text Available Progeroid syndromes are characterised by clinical features of physiological aging at an early age. Hutchinson-Gilford progeria syndrome is a type of progeroid syndrome, characterised by abnormal facies, bone abnormalities, sclerodermatous skin changes and retarded physical development. Average life expectancy of progeria patients is 13 years. Herein we are reporting a case of progeria who is 21 years old.

  5. Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis

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    Natesh B Hanumanthappa

    2011-01-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare premature aging syndrome that results from mutation in the Laminin A gene. This case report of a 12-year-old girl with HGPS is presented for the rarity of the syndrome and the classical clinical features that were observed in the patient. All patients with this condition should undergo early and periodic evaluation for cardiovascular diseases. However, the prognosis is poor and management is mainly conservative. There is no proven therapy available. Mortality in this uniformly fatal condition is primarily due to myocardial infarction, strokes or congestive cardiac failure between ages 7 and 21 years due to the rapidly progressive arteriosclerosis involving the large vessels.

  6. Genetics Home Reference: Hutchinson-Gilford progeria syndrome

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    ... Wilson A. Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome. J Gerontol A ... should not be used as a substitute for professional medical care or advice. Users with questions about ...

  7. Hutchinson-Gilford progeria syndrome

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    Agarwal Uma

    2010-01-01

    Full Text Available Progeria is a rare genetic disorder characterized by premature aging, involving the skin, bones, heart, and blood vessels. We report a 4-year-old boy who presented with clinical manifestations of progeria. He had characteristic facies, prominent eyes, scalp and leg veins, senile look, loss of scalp hair, eyebrows and eyelashes, stunted growth, and sclerodermatous changes. The present case is reported due to its rarity.

  8. Immortalization of Werner syndrome and progeria fibroblasts

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    Saito, H.; Moses, R.E. (Baylor College of Medicine, Houston, TX (USA))

    1991-02-01

    Human fibroblast cells from two different progeroid syndromes, Werner syndrome (WS) and progeria, were established as immortalized cell lines by transfection with plasmid DNA containing the SV40 early region. The lineage of each immortalized cell line was confirmed by VNTR analysis. Each of the immortalized cell lines maintained its original phenotype of slow growth. DNA repair ability of these cells was also studied by measuring sensitivity to killing by uv or the DNA-damaging drugs methyl methansulfonate, bleomycin, and cis-dichlorodiamine platinum. The results showed that both WS and progeria cells have normal sensitivity to these agents.

  9. Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome

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    Haji Mohammed Nazir

    2017-01-01

    Full Text Available Hutchinson-Gilford Progeria Syndrome (HGPS is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair.

  10. A 36 years old woman with Hutchinson-Gilford Progeria Syndrome: a case report

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    Akrami S M

    2007-10-01

    Full Text Available Background: Hutchinson-Gilford Progeria Syndrome (HGPS is a very rare genetic disorder with a frequency of 1 in 8 million live births. It is characterised by premature aging phenotype. The median age at death is 13.4 years. It is an autosomal dominat disease due to a de novo point mutation in the Lamin A gene exon 11 in the majority of cases. More than 100 cases have been reported world wide."nCase report: We describe here an exceptionally long-lived patient with HGPS, who is alive at age 36. She was referred by a cardiologist to our endocrinology clinic to be worked up for presence of a metabolic or genetic disorder before a heart surgery."nResults: Having more attention of clinicians about very rare diseases and referring the patients to geneticist are the main goals of this case report as well as describing the disease.

  11. Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.

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    Jackleen Marji

    Full Text Available Hutchinson-Gilford Progeria Syndrome (HGPS is a rare premature aging disorder caused by a de novo heterozygous point mutation G608G (GGC>GGT within exon 11 of LMNA gene encoding A-type nuclear lamins. This mutation elicits an internal deletion of 50 amino acids in the carboxyl-terminus of prelamin A. The truncated protein, progerin, retains a farnesylated cysteine at its carboxyl terminus, a modification involved in HGPS pathogenesis. Inhibition of protein farnesylation has been shown to improve abnormal nuclear morphology and phenotype in cellular and animal models of HGPS. We analyzed global gene expression changes in fibroblasts from human subjects with HGPS and found that a lamin A-Rb signaling network is a major defective regulatory axis. Treatment of fibroblasts with a protein farnesyltransferase inhibitor reversed the gene expression defects. Our study identifies Rb as a key factor in HGPS pathogenesis and suggests that its modulation could ameliorate premature aging and possibly complications of physiological aging.

  12. Naïve adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo

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    Vera Wenzel

    2012-04-01

    Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare disorder characterized by segmental accelerated aging and early death from coronary artery disease or stroke. Nearly 90% of HGPS sufferers carry a G608G mutation within exon 11 of LMNA, producing a truncated form of prelamin A, referred to as “progerin”. Here, we report the isolation of naïve multipotent skin-derived precursor (SKP cells from dermal fibroblast cultures from HGPS donors. These cells form spheres and express the neural crest marker, nestin, in addition to the multipotent markers, OCT4, Sox2, Nanog and TG30; these cells can self-renew and differentiate into smooth muscle cells (SMCs and fibroblasts. The SMCs derived from the HGPS-SKPs accumulate nuclear progerin with increasing passages. A subset of the HGPS-naïve SKPs express progerin in vitro and in situ in HGPS skin sections. This is the first in vivo evidence that progerin is produced in adult stem cells, and implies that this protein could induce stem cells exhaustion as a mechanism contributing to aging. Our study provides a basis on which to explore therapeutic applications for HGPS stem cells and opens avenues for investigating the pathogenesis of other genetic diseases.

  13. Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

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    Reunert, Janine; Wentzell, Rüdiger; Walter, Michael; Jakubiczka, Sibylle; Zenker, Martin; Brune, Thomas; Rust, Stephan; Marquardt, Thorsten

    2012-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke. Classical progeria is caused by the heterozygous point mutation c.1824C>T in the LMNA gene, which activates a cryptic splice site. The affected protein cannot be processed correctly to mature lamin A, bu...

  14. Progeria

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    Kaur Charandeep

    2000-01-01

    Full Text Available A case of progeria is being reported in a 7-year old boy. He had characteristic facies, short stature, alopecia, high pitched voice, coxa valga and sclerodermatous changes in skin.

  15. Defective DSB repair correlates with abnormal nuclear morphology and is improved with FTI treatment in Hutchinson-Gilford progeria syndrome fibroblasts

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    Constantinescu, Dan [Department of Cell Biology-Physiology, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Pittsburgh Development Center, Magee-Women' s Research Institute, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Csoka, Antonei B. [Division of Geriatrics, Department of Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA 15260 (United States); Navara, Christopher S. [Division of Developmental and Regenerative Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Pittsburgh Development Center, Magee-Women' s Research Institute, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Schatten, Gerald P., E-mail: schattengp@upmc.edu [Division of Developmental and Regenerative Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Department of Cell Biology-Physiology, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Pittsburgh Development Center, Magee-Women' s Research Institute, University of Pittsburgh, Pittsburgh, PA 15260 (United States)

    2010-10-15

    Impaired DSB repair has been implicated as a molecular mechanism contributing to the accelerating aging phenotype in Hutchinson-Gilford progeria syndrome (HGPS), but neither the extent nor the cause of the repair deficiency has been fully elucidated. Here we perform a quantitative analysis of the steady-state number of DSBs and the repair kinetics of ionizing radiation (IR)-induced DSBs in HGPS cells. We report an elevated steady-state number of DSBs and impaired repair of IR-induced DSBs, both of which correlated strongly with abnormal nuclear morphology. We recreated the HGPS cellular phenotype in human coronary artery endothelial cells for the first time by lentiviral transduction of GFP-progerin, which also resulted in impaired repair of IR-induced DSBs, and which correlated with abnormal nuclear morphology. Farnesyl transferase inhibitor (FTI) treatment improved the repair of IR-induced DSBs, but only in HGPS cells whose nuclear morphology was also normalized. Interestingly, FTI treatment did not result in a statistically significant reduction in the higher steady-state number of DSBs. We also report a delay in localization of phospho-NBS1 and MRE11, MRN complex repair factors necessary for homologous recombination (HR) repair, to DSBs in HGPS cells. Our results demonstrate a correlation between nuclear structural abnormalities and the DSB repair defect, suggesting a mechanistic link that may involve delayed repair factor localization to DNA damage. Further, our results show that similar to other HGPS phenotypes, FTI treatment has a beneficial effect on DSB repair.

  16. Chemical screening identifies ROCK as a target for recovering mitochondrial function in Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Kang, Hyun Tae; Park, Joon Tae; Choi, Kobong; Choi, Hyo Jei Claudia; Jung, Chul Won; Kim, Gyu Ree; Lee, Young-Sam; Park, Sang Chul

    2017-06-01

    Hutchinson-Gilford progeria syndrome (HGPS) constitutes a genetic disease wherein an aging phenotype manifests in childhood. Recent studies indicate that reactive oxygen species (ROS) play important roles in HGPS phenotype progression. Thus, pharmacological reduction in ROS levels has been proposed as a potentially effective treatment for patient with this disorder. In this study, we performed high-throughput screening to find compounds that could reduce ROS levels in HGPS fibroblasts and identified rho-associated protein kinase (ROCK) inhibitor (Y-27632) as an effective agent. To elucidate the underlying mechanism of ROCK in regulating ROS levels, we performed a yeast two-hybrid screen and discovered that ROCK1 interacts with Rac1b. ROCK activation phosphorylated Rac1b at Ser71 and increased ROS levels by facilitating the interaction between Rac1b and cytochrome c. Conversely, ROCK inactivation with Y-27632 abolished their interaction, concomitant with ROS reduction. Additionally, ROCK activation resulted in mitochondrial dysfunction, whereas ROCK inactivation with Y-27632 induced the recovery of mitochondrial function. Furthermore, a reduction in the frequency of abnormal nuclear morphology and DNA double-strand breaks was observed along with decreased ROS levels. Thus, our study reveals a novel mechanism through which alleviation of the HGPS phenotype is mediated by the recovery of mitochondrial function upon ROCK inactivation. © 2017 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.

  17. Lethal neonatal Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Rodríguez, J I; Pérez-Alonso, P; Funes, R; Pérez-Rodríguez, J

    1999-01-29

    We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine growth retardation, premature aging, absence of subcutaneous fat, brachydactyly, absent nipples, hypoplastic external genitalia, and abnormal ear lobes. The child's combination of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also report previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition. We could not find any histological data to support acro-osteolysis, which is the radiographic sign of brachydactyly. The terminal phalanges in HGP seem to be underdeveloped rather than osteolytic.

  18. Progeria

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    Raval Ranjan

    1992-01-01

    Full Text Available An 8-year-old boy presented with clinical manifestations of progeria. He had senile looks, scanty scalp hair, stunted growth, and wrinkled skin with loss of subcutaneous fat. Sclerodermatous changes were found on both thighs and pelvic region, which was confirmed by histopathology.

  19. Loss of H3K9me3 Correlates with ATM Activation and Histone H2AX Phosphorylation Deficiencies in Hutchinson-Gilford Progeria Syndrome.

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    Haoyue Zhang

    Full Text Available Compelling evidence suggests that defective DNA damage response (DDR plays a key role in the premature aging phenotypes in Hutchinson-Gilford progeria syndrome (HGPS. Studies document widespread alterations in histone modifications in HGPS cells, especially, the global loss of histone H3 trimethylated on lysine 9 (H3K9me3. In this study, we explore the potential connection(s between H3K9me3 loss and the impaired DDR in HGPS. When cells are exposed to a DNA-damaging agent Doxorubicin (Dox, double strand breaks (DSBs are generated that result in the phosphorylation of histone H2A variant H2AX (gammaH2AX within an hour. We find that the intensities of gammaH2AX foci appear significantly weaker in the G0/G1 phase HGPS cells compared to control cells. This reduction is associated with a delay in the recruitment of essential DDR factors. We further demonstrate that ataxia-telangiectasia mutated (ATM is responsible for the amplification of gammaH2AX signals at DSBs during G0/G1 phase, and its activation is inhibited in the HGPS cells that display significant loss of H3K9me3. Moreover, methylene (MB blue treatment, which is known to save heterochromatin loss in HGPS, restores H3K9me3, stimulates ATM activity, increases gammaH2AX signals and rescues deficient DDR. In summary, this study demonstrates an early DDR defect of attenuated gammaH2AX signals in G0/G1 phase HGPS cells and provides a plausible connection between H3K9me3 loss and DDR deficiency.

  20. The two-faced progeria gene and its implications in aging and metabolism

    NARCIS (Netherlands)

    Chatzispyrou, Iliana A.; Houtkooper, Riekelt H.

    2014-01-01

    Premature aging syndromes have gained much attention, not only because of their devastating symptoms but also because they might hold a key to some of the mechanisms underlying aging. The Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutation in the LMNA gene, which normally produces

  1. Progeria (Hutchison - Gilford syndrome in siblings: In an autosomal recessive pattern of inheritance

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    Raghu Tanjore

    2001-09-01

    Full Text Available Progeria is an autosomal dominant, premature aging syndrome. Six and three year old female siblings had sclcrodermatous changes over the extremities, alopecia, beaked nose, prominent veins and bird-like facies. Radiological features were consistent with features of progeria. The present case highlights rarity of progeria in siblings with a possible autosomal recessive pattern.

  2. Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

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    Xavier Nissan

    2012-07-01

    Full Text Available One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS, who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.

  3. Accelerated aging syndromes, are they relevant to normal human aging?

    OpenAIRE

    Dreesen, Oliver; Stewart, Colin L.

    2011-01-01

    Hutchinson-Gilford Progeria (HGPS) and Werner syndromes are diseases that clinically resemble some aspects of accelerated aging. HGPS is caused by mutations in theLMNA gene resulting in post-translational processing defects that trigger Progeria in children. Werner syndrome, arising from mutations in the WRN helicase gene, causes premature aging in young adults. What are the molecular mechanism(s) underlying these disorders and what aspects of the diseases resemble physiological human aging? ...

  4. Ocular manifestations in the Hutchinson-Gilford progeria syndrome

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    Shivcharan L Chandravanshi

    2011-01-01

    Full Text Available The Hutchinson-Gilford progeria (HGP syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning ′prematurely old′. It is caused by de novo dominant mutation in the LMNA gene (gene map locus 1q21.2 and characterized by growth retardation and accelerated degenerative changes of the skin, musculoskeletal and cardiovascular systems. The most common ocular manifestations are prominent eyes, loss of eyebrows and eyelashes, and lagophthalmos. In the present case some additional ocular features such as horizontal narrowing of palpebral fissure, superior sulcus deformity, upper lid retraction, upper lid lag in down gaze, poor pupillary dilatation, were noted. In this case report, a 15-year-old Indian boy with some additional ocular manifestations of the HGP syndrome is described.

  5. Hutchinson - Gilford progeria syndrome: A rare case report

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    Subhash Kashyap

    2014-01-01

    Full Text Available Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL levels were also characteristic of the syndrome. This interesting case is reported for its rarity.

  6. Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

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    Worman Howard J

    2005-06-01

    Full Text Available Abstract Background Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare sporadic disorder with an incidence of approximately 1 per 8 million live births. The phenotypic appearance consists of short stature, sculptured nose, alopecia, prominent scalp veins, small face, loss of subcutaneous fat, faint mid-facial cyanosis, and dystrophic nails. HGPS is caused by mutations in LMNA, the gene that encodes nuclear lamins A and C. The most common mutation in subjects with HGPS is a de novo single-base pair substitution, G608G (GGC>GGT, within exon 11 of LMNA. This creates an abnormal splice donor site, leading to expression of a truncated protein. Results We studied a new case of a 5 year-old girl with HGPS and found a heterozygous point mutation, G608G, in LMNA. Complementary DNA sequencing of RNA showed that this mutation resulted in the deletion of 50 amino acids in the carboxyl-terminal tail domain of prelamin A. We characterized a primary dermal fibroblast cell line derived from the subject's skin. These cells expressed the mutant protein and exhibited a normal growth rate at early passage in primary culture but showed alterations in nuclear morphology. Expression levels and overall distributions of nuclear lamins and emerin, an integral protein of the inner nuclear membrane, were not dramatically altered. Ultrastructural analysis of the nuclear envelope using electron microscopy showed that chromatin is in close association to the nuclear lamina, even in areas with abnormal nuclear envelope morphology. The fibroblasts were hypersensitive to heat shock, and demonstrated a delayed response to heat stress. Conclusion Dermal fibroblasts from a subject with HGPS expressing a mutant truncated lamin A have dysmorphic nuclei, hypersensitivity to heat shock, and delayed response to heat stress. This suggests that the mutant protein, even when expressed at low levels, causes defective cell stability, which may be responsible for phenotypic

  7. A case of progeria syndrome treated as VIP patient

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    Seema Mahant, Mahant PD, C.M. Reddy

    2014-11-01

    Full Text Available Progeria is rare autosomal recessive genetic disease with an incidence of about one in eight million. He was 16 years old boy lying on the couch. He was short stature thin with minimal subcutaneous tissue, skin was thin and fragile with loss of hair over scalp, eyebrows and eyelashes, and his face was dismorphic with prominent eyes, beaked nose, small jaw and large cranium with visible veins over it. His voice was thin and high pitched. Overall, this gives them an extremely aged nearly 70 -80 years old man look. The patient was a known case of progeria syndrome and he was treated as a VIP patient by all faculty members and staff, though he belongs low socioeconomic status, no political issue with them. But still he was a VIP.

  8. Antisense-Based Progerin Downregulation in HGPS-Like Patients’ Cells

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    Karim Harhouri

    2016-07-01

    Full Text Available Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670, are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS patients carry a de novo point mutation within exon 11 of the LMNA gene encoding A-type Lamins. This mutation activates a cryptic splice site leading to the deletion of 50 amino acids at its carboxy-terminal domain, resulting in a truncated and permanently farnesylated Prelamin A called Prelamin A Δ50 or Progerin. Some patients carry other LMNA mutations affecting exon 11 splicing and are named “HGPS-like” patients. They also produce Progerin and/or other truncated Prelamin A isoforms (Δ35 and Δ90 at the transcriptional and/or protein level. The results we present show that morpholino antisense oligonucleotides (AON prevent pathogenic LMNA splicing, markedly reducing the accumulation of Progerin and/or other truncated Prelamin A isoforms (Prelamin A Δ35, Prelamin A Δ90 in HGPS-like patients’ cells. Finally, a patient affected with Mandibuloacral Dysplasia type B (MAD-B, carrying a homozygous mutation in ZMPSTE24, encoding an enzyme involved in Prelamin A maturation, leading to accumulation of wild type farnesylated Prelamin A, was also included in this study. These results provide preclinical proof of principle for the use of a personalized antisense approach in HGPS-like and MAD-B patients, who may therefore be eligible for inclusion in a therapeutic trial based on this approach, together with classical HGPS patients.

  9. Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

    Science.gov (United States)

    Reunert, Janine; Wentzell, Rüdiger; Walter, Michael; Jakubiczka, Sibylle; Zenker, Martin; Brune, Thomas; Rust, Stephan; Marquardt, Thorsten

    2012-09-01

    Hutchinson-Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke. Classical progeria is caused by the heterozygous point mutation c.1824C>T in the LMNA gene, which activates a cryptic splice site. The affected protein cannot be processed correctly to mature lamin A, but is modified into a farnesylated protein truncated by 50 amino acids (progerin). Three more variations in LMNA result in the same mutant protein, but different grades of disease severity. We describe a patient with the heterozygous LMNA mutation c.1821G>A, leading to neonatal progeria with death in the first year of life. Intracellular lamin A was downregulated in the patient's fibroblasts and the ratio of progerin to lamin A was increased when compared with HGPS. It is suggestive that the ratio of farnesylated protein to mature lamin A determines the disease severity in progeria.

  10. A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Cleveland, Robert H. [Harvard Medical School, Pediatric Radiology, Children' s Hospital Boston, Boston, MA (United States); Gordon, Leslie B. [Harvard Medical School, Department of Anesthesia, Children' s Hospital Boston, Boston, MA (United States); Warren Alpert Medical School of Brown University, Department of Pediatrics, Hasbro Children' s Hospital, Providence, RI (United States); Kleinman, Monica E. [Harvard Medical School, Department of Anesthesia, Children' s Hospital Boston, Boston, MA (United States); Miller, David T. [Harvard Medical School, Division of Genetics, Children' s Hospital Boston, Boston, MA (United States); Gordon, Catherine M. [Harvard Medical School, Division of Endocrinology and Adolescent Medicine, Children' s Hospital Boston, Boston, MA (United States); Snyder, Brian D. [Harvard Medical School, Department of Orthopedic Surgery, Children' s Hospital Boston, Boston, MA (United States); Nazarian, Ara [Harvard Medical School, Boston, MA (United States); Giobbie-Hurder, Anita [Dana-Farber Cancer Institute, Department of Biostatistics and Computational Biology, Boston, MA (United States); Neuberg, Donna [Dana-Farber Cancer Institute, Department of Biostatistics and Computational Biology, Boston, MA (United States); Harvard School of Public Health, Department of Biostatistics, Boston, MA (United States); Kieran, Mark W. [Dana-Farber Cancer Institute and Children' s Hospital Boston, Division of Pediatric Oncology, Boston, MA (United States)

    2012-09-15

    Progeria is a rare segmental premature aging disease with significant skeletal abnormalities. Defining the full scope of radiologic abnormalities requires examination of a large proportion of the world's progeria population (estimated at 1 in 4 million). There has been no comprehensive prospective study describing the skeletal abnormalities associated with progeria. To define characteristic radiographic features of this syndrome. Thirty-nine children with classic progeria, ages 2-17 years, from 29 countries were studied at a single site. Comprehensive radiographic imaging studies were performed. Sample included 23 girls and 16 boys - the largest number of patients with progeria evaluated prospectively to date. Eight new and two little known progeria-associated radiologic findings were identified (frequencies of 3-36%). Additionally, 23 commonly reported findings were evaluated. Of these, 2 were not encountered and 21 were present and ranked according to their frequency. Nine abnormalities were associated with increasing patient age (P = 0.02-0.0001). This study considerably expands the radiographic morphological spectrum of progeria. A better understanding of the radiologic abnormalities associated with progeria and improved understanding of the biology of progerin (the molecule responsible for this disease), will improve our ability to treat the spectrum of bony abnormalities. (orig.)

  11. Progeria: A rare genetic premature ageing disorder

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    Jitendra Kumar Sinha

    2014-01-01

    Full Text Available Progeria is characterized by clinical features that mimic premature ageing. Although the mutation responsible for this syndrome has been deciphered, the mechanism of its action remains elusive. Progeria research has gained momentum particularly in the last two decades because of the possibility of revealing evidences about the ageing process in normal and other pathophysiological conditions. Various experimental models, both in vivo and in vitro, have been developed in an effort to understand the cellular and molecular basis of a number of clinically heterogeneous rare genetic disorders that come under the umbrella of progeroid syndromes (PSs. As per the latest clinical trial reports, Lonafarnib, a farnesyltranferase inhibitor, is a potent ′drug of hope′ for Hutchinson-Gilford progeria syndrome (HGPS and has been successful in facilitating weight gain and improving cardiovascular and skeletal pathologies in progeroid children. This can be considered as the dawn of a new era in progeria research and thus, an apt time to review the research developments in this area highlighting the molecular aspects, experimental models, promising drugs in trial and their implications to gain a better understanding of PSs.

  12. Progeria Research Foundation Diagnostic Testing Program

    Science.gov (United States)

    ... scientific test to definitively diagnose children with Progeria. What is the Gene for HGPS? The gene responsible for HGPS is called LMNA (pronounced Lamin A). Within this gene there is a change in one element of DNA. This type of gene change is ...

  13. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.

    NARCIS (Netherlands)

    Andressoo, Jaan-Olle; Mitchell, James R; Wit, Jan de; Hoogstraten, Deborah; Volker, Marcel; Toussaint, Wendy; Speksnijder, Ewoud; Beems, Rudolf B; Steeg, Harry van; Jans, Judith; Zeeuw, Chris I de; Jaspers, Nicolaas G J; Raams, Anja; Lehmann, Alan R; Vermeulen, Wim; Hoeijmakers, Jan H J; Horst, Gijsbertus T J van der

    2006-01-01

    Inborn defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD]). We report generation of a knockin mouse model for the

  14. A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model.

    Science.gov (United States)

    Capell, Brian C; Olive, Michelle; Erdos, Michael R; Cao, Kan; Faddah, Dina A; Tavarez, Urraca L; Conneely, Karen N; Qu, Xuan; San, Hong; Ganesh, Santhi K; Chen, Xiaoyan; Avallone, Hedwig; Kolodgie, Frank D; Virmani, Renu; Nabel, Elizabeth G; Collins, Francis S

    2008-10-14

    Hutchinson-Gilford progeria syndrome (HGPS) is the most dramatic form of human premature aging. Death occurs at a mean age of 13 years, usually from heart attack or stroke. Almost all cases of HGPS are caused by a de novo point mutation in the lamin A (LMNA) gene that results in production of a mutant lamin A protein termed progerin. This protein is permanently modified by a lipid farnesyl group, and acts as a dominant negative, disrupting nuclear structure. Treatment with farnesyltransferase inhibitors (FTIs) has been shown to prevent and even reverse this nuclear abnormality in cultured HGPS fibroblasts. We have previously created a mouse model of HGPS that shows progressive loss of vascular smooth muscle cells in the media of the large arteries, in a pattern that is strikingly similar to the cardiovascular disease seen in patients with HGPS. Here we show that the dose-dependent administration of the FTI tipifarnib (R115777, Zarnestra) to this HGPS mouse model can significantly prevent both the onset of the cardiovascular phenotype as well as the late progression of existing cardiovascular disease. These observations provide encouraging evidence for the current clinical trial of FTIs for this rare and devastating disease.

  15. Progeria syndrome with characteristic deformation of proximal radius observed on CT

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    Sood, S.; Rao, R.C.K.; Ragav, B.; Berry, M. (All India Inst. of Medical Sciences, New Delhi (India). Dept. of Radio-Diagnosis)

    1991-01-01

    The progeria syndrome (Hutchinson-Gilford) is an uncommon disease. A peculiar shape of the proximal radial metaphyseal region caused by an infolding of the cortex was observed on CT in 2 brothers suffering from this disorder, a feature not previously reported. A brief review of the radiologic literature was undertaken. This new observation needs to be further evaluated as it may provide a clinching diagnostic feature of this disease. (orig.).

  16. Stem cell aging in adult progeria

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    Hoi-Hung Cheung

    2015-01-01

    Full Text Available Aging is considered an irreversible biological process and also a major risk factor for a spectrum of geriatric diseases. Advanced age-related decline in physiological functions, such as neurodegeneration, development of cardiovascular disease, endocrine and metabolic dysfunction, and neoplastic transformation, has become the focus in aging research. Natural aging is not regarded as a programmed process. However, accelerated aging due to inherited genetic defects in patients of progeria is programmed and resembles many aspects of natural aging. Among several premature aging syndromes, Werner syndrome (WS and Hutchinson–Gilford progeria syndrome (HGPS are two broadly investigated diseases. In this review, we discuss how stem cell aging in WS helps us understand the biology of aging. We also discuss briefly how the altered epigenetic landscape in aged cells can be reversed to a “juvenile” state. Lastly, we explore the potential application of the latest genomic editing technique for stem cell-based therapy and regenerative medicine in the context of aging.

  17. Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report

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    Kalil Kotb

    2012-01-01

    Full Text Available Abstract Introduction Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported abnormalities of thyroid, parathyroid, pituitary or adrenal function. Here, we report the case of a 10-year-old Egyptian child with Hutchinson-Gilford progeria syndrome and hypoparathyroidism. Case presentation A 10-year-old Egyptian boy was referred to our institution for an evaluation of recurrent attacks of muscle cramps, paresthesia of his fingertips and perioral numbness of two months duration. On examination, we found dilated veins present over his scalp with alopecia and frontal bossing, a beaked nose, thin lips, protruding ears, a high pitched voice with sparse hair over his eyebrows and eyelashes and micrognathia but normal dentition. His eyes appeared prominent and our patient appeared to have poor sexual development. A provisional diagnosis of progeria was made, which was confirmed by molecular genetics study. Chvostek's and Trousseau's signs were positive. He had low total calcium (5.4 mg/dL, low ionized calcium (2.3 mg/dL, raised serum phosphate (7.2 mg/dL, raised alkaline phosphatase (118 U/L and low intact parathyroid hormone (1.2 pg/mL levels. He was started on oral calcium salt and vitamin D; his symptoms improved with the treatment and his serum calcium, urinary calcium and alkaline phosphates level were monitored every three months to ensure adequacy of therapy and to avoid hypercalcemia. Conclusion Routine checking of serum calcium, phosphorus and parathyroid hormone will help in the early detection of hypoparathyrodism among children with progeria.

  18. Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report.

    Science.gov (United States)

    Kalil, Kotb Abbass Metwalley; Fargalley, Hekma Saad

    2012-01-17

    Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported abnormalities of thyroid, parathyroid, pituitary or adrenal function. Here, we report the case of a 10-year-old Egyptian child with Hutchinson-Gilford progeria syndrome and hypoparathyroidism. A 10-year-old Egyptian boy was referred to our institution for an evaluation of recurrent attacks of muscle cramps, paresthesia of his fingertips and perioral numbness of two months duration. On examination, we found dilated veins present over his scalp with alopecia and frontal bossing, a beaked nose, thin lips, protruding ears, a high pitched voice with sparse hair over his eyebrows and eyelashes and micrognathia but normal dentition. His eyes appeared prominent and our patient appeared to have poor sexual development. A provisional diagnosis of progeria was made, which was confirmed by molecular genetics study. Chvostek's and Trousseau's signs were positive. He had low total calcium (5.4 mg/dL), low ionized calcium (2.3 mg/dL), raised serum phosphate (7.2 mg/dL), raised alkaline phosphatase (118 U/L) and low intact parathyroid hormone (1.2 pg/mL) levels. He was started on oral calcium salt and vitamin D; his symptoms improved with the treatment and his serum calcium, urinary calcium and alkaline phosphates level were monitored every three months to ensure adequacy of therapy and to avoid hypercalcemia. Routine checking of serum calcium, phosphorus and parathyroid hormone will help in the early detection of hypoparathyrodism among children with progeria.

  19. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

    Science.gov (United States)

    Soria-Valles, Clara; Carrero, Dido; Gabau, Elisabeth; Velasco, Gloria; Quesada, Víctor; Bárcena, Clea; Moens, Marleen; Fieggen, Karen; Möhrcken, Silvia; Owens, Martina; Puente, Diana A; Asensio, Óscar; Loeys, Bart; Pérez, Ana; Benoit, Valerie; Wuyts, Wim; Lévy, Nicolas; Hennekam, Raoul C; De Sandre-Giovannoli, Annachiara; López-Otín, Carlos

    2016-06-22

    Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently, to nuclear envelope alterations. In this work, we describe a novel phenotypic feature of the progeria spectrum affecting three unrelated newborns and identify its genetic cause. Patients reported herein present an extremely homogeneous phenotype that somewhat recapitulates those of patients with HGPS and mandibuloacral dysplasia. However, pathological signs appear earlier, are more aggressive and present distinctive features including episodes of severe upper airway obstruction. Exome and Sanger sequencing allowed the identification of heterozygous de novo c.163G>A, p.E55K and c.164A>G, p.E55G mutations in LMNA as the alterations responsible for this disorder. Functional analyses demonstrated that fibroblasts from these patients suffer important dysfunctions in nuclear lamina, which generate profound nuclear envelope abnormalities but without progerin accumulation. These nuclear alterations found in patients' dermal fibroblasts were also induced by ectopic expression of the corresponding site-specific LMNA mutants in control human fibroblasts. Our results demonstrate the causal role of p.E55K and p.E55G lamin A mutations in a disorder which manifests novel phenotypic features of the progeria spectrum characterised by neonatal presentation and aggressive clinical evolution, despite being caused by lamin A/C missense mutations with effective prelamin A processing. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  20. An upregulation in the expression of vanilloid transient potential channels 2 enhances hypotonicity-induced cytosolic Ca²⁺ rise in human induced pluripotent stem cell model of Hutchinson-Gillford Progeria.

    Directory of Open Access Journals (Sweden)

    Chun-Yin Lo

    Full Text Available Hutchinson-Gillford Progeria Syndrome (HGPS is a fatal genetic disorder characterized by premature aging in multiple organs including the skin, musculoskeletal and cardiovascular systems. It is believed that an increased mechanosensitivity of HGPS cells is a causative factor for vascular cell death and vascular diseases in HGPS patients. However, the exact mechanism is unknown. Transient receptor potential (TRP channels are cationic channels that can act as cellular sensors for mechanical stimuli. The aim of this present study was to examine the expression and functional role of TRP channels in human induced pluripotent stem cell-derived endothelial cells (iPSC-ECs from the patients with HGPS. The mRNA and protein expression of TRP channels in HGPS and control (IMR90 iPSC-ECs were examined by semi-quantitative RT-PCRs and immunoblots, respectively. Hypotonicity-induced cytosolic Ca²⁺ ([Ca²⁺](i rise in iPSC-ECs was measured by confocal microscopy. RT-PCRs and immunoblots showed higher expressional levels of TRPV2 in iPSC-ECs from HGPS patients than those from normal individuals. In functional studies, hypotonicity induced a transient [Ca²⁺](i rise in iPSC-ECs from normal individuals but a sustained [Ca²⁺](i elevation in iPSC-ECs from HGPS patients. A nonselective TRPV inhibitor, ruthenium red (RuR, 20 µM, and a specific TRPV2 channel inhibitor, tranilast (100 µM, abolished the sustained phase of hypotonicity-induced [Ca²⁺](i rise in iPSC-ECs from HGPS patients, and also markedly attenuated the transient phase of the [Ca²⁺](i rise in these cells. Importantly, a short 10 min hypotonicity treatment caused a substantial increase in caspase 8 activity in iPSC-ECs from HGPS patients but not in cells from normal individuals. Tranilast could also inhibit the hypotonicity-induced increase in caspase 8 activity. Taken together, our data suggest that an up-regulation in TRPV2 expression causes a sustained [Ca²⁺](i elevation in HGPS

  1. Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.

    Science.gov (United States)

    Donadille, Bruno; D'Anella, Pascal; Auclair, Martine; Uhrhammer, Nancy; Sorel, Marc; Grigorescu, Romulus; Ouzounian, Sophie; Cambonie, Gilles; Boulot, Pierre; Laforêt, Pascal; Carbonne, Bruno; Christin-Maitre, Sophie; Bignon, Yves-Jean; Vigouroux, Corinne

    2013-07-12

    Laminopathies, due to mutations in LMNA, encoding A type-lamins, can lead to premature ageing and/or lipodystrophic syndromes, showing that these diseases could have close physiopathological relationships. We show here that lipodystrophy and extreme insulin resistance can also reveal the adult progeria Werner syndrome linked to mutations in WRN, encoding a RecQ DNA helicase. We analysed the clinical and biological features of two women, aged 32 and 36, referred for partial lipodystrophic syndrome which led to the molecular diagnosis of Werner syndrome. Cultured skin fibroblasts from one patient were studied. Two normal-weighted women presented with a partial lipodystrophic syndrome with hypertriglyceridemia and liver steatosis. One of them had also diabetes. Both patients showed a peculiar, striking lipodystrophic phenotype with subcutaneous lipoatrophy of the four limbs contrasting with truncal and abdominal fat accumulation. Their oral glucose tolerance tests showed extremely high levels of insulinemia, revealing major insulin resistance. Low serum levels of sex-hormone binding globulin and adiponectin suggested a post-receptor insulin signalling defect. Other clinical features included bilateral cataracts, greying hair and distal skin atrophy. We observed biallelic WRN null mutations in both women (p.Q748X homozygous, and compound heterozygous p.Q1257X/p.M1329fs). Their fertility was decreased, with preserved menstrual cycles and normal follicle-stimulating hormone levels ruling out premature ovarian failure. However undetectable anti-müllerian hormone and inhibin B indicated diminished follicular ovarian reserve. Insulin-resistance linked ovarian hyperandrogenism could also contribute to decreased fertility, and the two patients became pregnant after initiation of insulin-sensitizers (metformin). Both pregnancies were complicated by severe cervical incompetence, leading to the preterm birth of a healthy newborn in one case, but to a second trimester

  2. From the rarest to the most common: insights from progeroid syndromes into skin cancer and aging.

    Science.gov (United States)

    Capell, Brian C; Tlougan, Brook E; Orlow, Seth J

    2009-10-01

    Despite their rarity, diseases of premature aging, or "progeroid" syndromes, have provided important insights into basic mechanisms that may underlie cancer and normal aging. In this review, we highlight these recent developments in Hutchinson-Gilford progeria syndrome (HGPS), Werner syndrome, Bloom syndrome, Cockayne syndrome, trichothiodystrophy, ataxia-telangiectasia, Rothmund-Thomson syndrome, and xeroderma pigmentosum. Though they are caused by different mutations in various genes and often result in quite disparate phenotypes, deciphering the molecular bases of these conditions has served to highlight their underlying basic similarities. Studies of progeroid syndromes, particularly HGPS, the most dramatic form of premature aging, have contributed to our knowledge of fundamental processes of importance to skin biology, including DNA transcription, replication, and repair, genome instability, cellular senescence, and stem-cell differentiation.

  3. The Defective Nuclear Lamina in Hutchinson-Gilford Progeria Syndrome Disrupts the Nucleocytoplasmic Ran Gradient and Inhibits Nuclear Localization of Ubc9▿

    Science.gov (United States)

    Kelley, Joshua B.; Datta, Sutirtha; Snow, Chelsi J.; Chatterjee, Mandovi; Ni, Li; Spencer, Adam; Yang, Chun-Song; Cubeñas-Potts, Caelin; Matunis, Michael J.; Paschal, Bryce M.

    2011-01-01

    The mutant form of lamin A responsible for the premature aging disease Hutchinson-Gilford progeria syndrome (termed progerin) acts as a dominant negative protein that changes the structure of the nuclear lamina. How the perturbation of the nuclear lamina in progeria is transduced into cellular changes is undefined. Using patient fibroblasts and a variety of cell-based assays, we determined that progerin expression in Hutchinson-Gilford progeria syndrome inhibits the nucleocytoplasmic transport of several factors with key roles in nuclear function. We found that progerin reduces the nuclear/cytoplasmic concentration of the Ran GTPase and inhibits the nuclear localization of Ubc9, the sole E2 for SUMOylation, and of TPR, the nucleoporin that forms the basket on the nuclear side of the nuclear pore complex. Forcing the nuclear localization of Ubc9 in progerin-expressing cells rescues the Ran gradient and TPR import, indicating that these pathways are linked. Reducing nuclear SUMOylation decreases the nuclear mobility of the Ran nucleotide exchange factor RCC1 in vivo, and the addition of SUMO E1 and E2 promotes the dissociation of RCC1 and Ran from chromatin in vitro. Our data suggest that the cellular effects of progerin are transduced, at least in part, through reduced function of the Ran GTPase and SUMOylation pathways. PMID:21670151

  4. Progeria in siblings: A rare case report

    Directory of Open Access Journals (Sweden)

    R Sowmiya

    2011-01-01

    Full Text Available Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder. It is not seen in siblings of affected children although there are very few case reports of progeria affecting more than one child in a family. Here we are presenting two siblings, a 14-year-old male and a 13-year-old female with features of progeria, suggesting a possible autosomal recessive inheritance.

  5. Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria.

    Science.gov (United States)

    Brace, Lear E; Vose, Sarah C; Vargas, Dorathy F; Zhao, Shuangyun; Wang, Xiu-Ping; Mitchell, James R

    2013-12-01

    Cockayne syndrome (CS) is a rare autosomal recessive segmental progeria characterized by growth failure, lipodystrophy, neurological abnormalities, and photosensitivity, but without skin cancer predisposition. Cockayne syndrome life expectancy ranges from 5 to 16 years for the two most severe forms (types II and I, respectively). Mouse models of CS have thus far been of limited value due to either very mild phenotypes, or premature death during postnatal development prior to weaning. The cause of death in severe CS models is unknown, but has been attributed to extremely rapid aging. Here, we found that providing mutant pups with soft food from as late as postnatal day 14 allowed survival past weaning with high penetrance independent of dietary macronutrient balance in a novel CS model (Csa(-/-) | Xpa(-/-)). Survival past weaning revealed a number of CS-like symptoms including small size, progressive loss of adiposity, and neurological symptoms, with a maximum lifespan of 19 weeks. Our results caution against interpretation of death before weaning as premature aging, and at the same time provide a valuable new tool for understanding mechanisms of progressive CS-related progeroid symptoms including lipodystrophy and neurodysfunction. © 2013 the Anatomical Society and John Wiley & Sons Ltd.

  6. Altered Nuclear Functions in Progeroid Syndromes: a Paradigm for Aging Research

    Directory of Open Access Journals (Sweden)

    Baomin Li

    2009-01-01

    Full Text Available Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population. However, their usefulness for aging research has been controversial, as it has been argued that these diseases do not faithfully reflect the process of natural aging. Here we review recent findings on the molecular basis of two progeroid diseases, Werner syndrome (WS and Hutchinson-Gilford progeria syndrome (HGPS, and highlight functional connections to cellular processes that may contribute to normal aging.

  7. The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.

    Directory of Open Access Journals (Sweden)

    Dayle McClintock

    2007-12-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare disorder characterized by accelerated aging and early death, frequently from stroke or coronary artery disease. 90% of HGPS cases carry the LMNA G608G (GGC>GGT mutation within exon 11 of LMNA, activating a splice donor site that results in production of a dominant negative form of lamin A protein, denoted progerin. Screening 150 skin biopsies from unaffected individuals (newborn to 97 years showed that a similar splicing event occurs in vivo at a low level in the skin at all ages. While progerin mRNA remains low, the protein accumulates in the skin with age in a subset of dermal fibroblasts and in a few terminally differentiated keratinocytes. Progerin-positive fibroblasts localize near the basement membrane and in the papillary dermis of young adult skin; however, their numbers increase and their distribution reaches the deep reticular dermis in elderly skin. Our findings demonstrate that progerin expression is a biomarker of normal cellular aging and may potentially be linked to terminal differentiation and senescence in elderly individuals.

  8. Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype.

    Directory of Open Access Journals (Sweden)

    Diana Gabriel

    Full Text Available Hutchinson-Gilford syndrome (HGPS, OMIM 176670, a rare premature aging disorder that leads to death at an average age of 14.7 years due to myocardial infarction or stroke, is caused by mutations in the LMNA gene. Lamins help maintain the shape and stability of the nuclear envelope in addition to regulating DNA replication, DNA transcription, proliferation and differentiation. The LMNA mutation results in the deletion of 50 amino acids from the carboxy-terminal region of prelamin A, producing the truncated, farnesylated protein progerin. The accumulation of progerin in HGPS nuclei causes numerous morphological and functional changes that lead to premature cellular senescence. Attempts to reverse this HGPS phenotype have identified rapamycin, an inhibitor of mammalian target of rapamycin (mTOR, as a drug that is able to rescue the HGPS cellular phenotype by promoting autophagy and reducing progerin accumulation. Rapamycin is an obvious candidate for the treatment of HGPS disease but is difficult to utilize clinically. To further assess rapamycin's efficacy with regard to proteostasis, mitochondrial function and the degree of DNA damage, we tested temsirolimus, a rapamycin analog with a more favorable pharmacokinetic profile than rapamycin. We report that temsirolimus decreases progerin levels, increases proliferation, reduces misshapen nuclei, and partially ameliorates DNA damage, but does not improve proteasome activity or mitochondrial dysfunction. Our findings suggest that future therapeutic strategies should identify new drug combinations and treatment regimens that target all the dysfunctional hallmarks that characterize HGPS cells.

  9. Physical Therapy and Occupational Therapy in Progeria

    Science.gov (United States)

    Physical Therapy and Occupational Therapy in Progeria Information for Families and Caretakers from The Progeria Research Foundation Written ... accelerated aging in children. Children with Progeria need Physical Therapy (PT) and Occupational Therapy (OT) as often as ...

  10. Labor Market Progeria.

    Science.gov (United States)

    Rodeheaver, Dean

    1990-01-01

    Social ambivalence toward women's roles, sexuality, appearance, and aging combine with social standards of attractiveness to create both age and sex discrimination in the workplace. The life expectancy of presentability is shorter among women than men, thus creating an accelerated aging process termed labor market progeria. (SK)

  11. [Hutchinson-Gilford progeria. A rare case of neonatal occurrence].

    Science.gov (United States)

    Zucchini, A; Bonfiglioli, G; Masignà Ricciardi, M G

    1986-01-01

    A case of Hutchinson-Gilford progeria syndrome is described in which phenotypic and metabolic symptoms were already evident at birth. Both under a clinical and autopsy point of view an early old age of organs and apparatuses was apparent, posing the problem of the reason why an early old aging occurs. The authors mention literature in favour of a genetic control of cellular aging and make the assumption that the genes controlling old age are various and that a greater or lesser presence and incidence of them could justify the earlier or normal appearance of this status.

  12. The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging?

    Science.gov (United States)

    Arboleda, Gonzalo; Ramírez, Nelson; Arboleda, Humberto

    2007-10-01

    The Wiedemann-Rautenstrauch syndrome (WRS) characterises a premature aging syndrome in which several features of human aging are apparent at birth therefore allowing their grouping as a neonatal progeroid condition. This differentiates WRS from other progeroid entities such as Hutchinson-Gilford progeria syndrome (HGPS) in which characteristics of premature aging become apparent some time after birth. The etiology of WRS remains unknown. Some studies have observed an autosomal recessive mode of inheritance. Several studies analysing telomere length and lamin A gene have not revealed any alterations. However, mutations in LMNA have been reported in several other atypical progeroid syndromes. Based on these observations, several hypothesis could be withdrawn concerning the etiology of WRS. The study of genes associated with lamin A metabolism, such as Zmpste24, and the metabolic pathways associated with insulin, such as protein kinase B or AKT, are of particular interest. We believe that WRS characteristics indicate that discovery of the gene and the metabolic pathway associated with this syndrome will most likely lead to new knowledge about the physiopathology of human aging.

  13. Progeria

    Science.gov (United States)

    ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ... the principles of the Health on the Net Foundation (www.hon.ch). The information provided herein should ...

  14. Decreased repair of gamma damaged DNA in progeria

    Energy Technology Data Exchange (ETDEWEB)

    Rainbow, A.J.; Howes, M.

    1977-01-01

    A sensitive host-cell reactivation technique was used to examine the DNA repair ability of fibroblasts from two patients with classical progeria. Fibroblasts were infected with either non-irradiated or gamma-irradiated adenovirus type 2 and at 48 hrs after infection cells were examined for the presence of viral structural antigens using immunofluorescent staining. The production of viral structural antigens was considerably reduced in the progeria lines as compared to normal fibroblasts when gamma-irradiated virus was used, indicating a defect in the repair of gamma ray damaged DNA in the progeria cells.

  15. Truncated prelamin A expression in HGPS-like patients: a transcriptional study

    NARCIS (Netherlands)

    Barthelemy, F.; Navarro, C; Fayek, R.; Silva, N.; Roll, P.; Sigaudy, S.; Oshima, J.; Bonne, G.; Papadopoulou-Legbelou, K.; Evangeliou, A.E.; Spilioti, M.; Lemerrer, M.; Wevers, R.A.; Morava, E.; Robaglia-Schlupp, A.; Levy, N.; Bartoli, M.; Sandre-Giovannoli, A. De

    2015-01-01

    Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene encoding lamins A and C, and is associated with nuclear deformation and dysfunction.

  16. Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria

    Directory of Open Access Journals (Sweden)

    V. Cenni

    2011-10-01

    Full Text Available Farnesylated prelamin A is a processing intermediate produced in the lamin A maturation pathway. Accumulation of a truncated farnesylated prelamin A form, called progerin, is a hallmark of the severe premature ageing syndrome, Hutchinson-Gilford progeria. Progerin elicits toxic effects in cells, leading to chromatin damage and cellular senescence and ultimately causes skin and endothelial defects, bone resorption, lipodystrophy and accelerated ageing. Knowledge of the mechanism underlying prelamin A turnover is critical for the development of clinically effective protein inhibitors that can avoid accumulation to toxic levels without impairing lamin A/C expression, which is essential for normal biological functions. Little is known about specific molecules that may target farnesylated prelamin A to elicit protein degradation. Here, we report the discovery of rapamycin as a novel inhibitor of progerin, which dramatically and selectively decreases protein levels through a mechanism involving autophagic degradation. Rapamycin treatment of progeria cells lowers progerin, as well as wild-type prelamin A levels, and rescues the chromatin phenotype of cultured fibroblasts, including histone methylation status and BAF and LAP2alpha distribution patterns. Importantly, rapamycin treatment does not affect lamin C protein levels, but increases the relative expression of the prelamin A endoprotease ZMPSTE24. Thus, rapamycin, an antibiotic belonging to the class of macrolides, previously found to increase longevity in mouse models, can serve as a therapeutic tool, to eliminate progerin, avoid farnesylated prelamin A accumulation, and restore chromatin dynamics in progeroid laminopathies.

  17. Biomechanical Strain Exacerbates Inflammation on a Progeria-on-a-Chip Model

    NARCIS (Netherlands)

    Ribas, J.; Zhang, Y.S.; Pitrez, P.R.; Leijten, Jeroen Christianus Hermanus; Miscuglio, M.; Rouwkema, Jeroen; Dokmeci, M.R.; Nissan, X.; Ferreira, L.; Khademhosseini, A.

    2017-01-01

    A progeria-on-a-chip model is engineered to recapitulate the biomechanical dynamics of vascular disease and aging. The model shows an exacerbated injury response to strain and is rescued by pharmacological treatments. The progeria-on-a-chip is expected to drive the discovery of new drugs and to

  18. Expression of progerin in aging mouse brains reveals structural nuclear abnormalities without detectible significant alterations in gene expression, hippocampal stem cells or behavior

    DEFF Research Database (Denmark)

    Baek, Jean-Ha; Schmidt, Eva; Viceconte, Nikenza

    2015-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is a segmental progeroid syndrome with multiple features suggestive of premature accelerated aging. Accumulation of progerin is thought to underlie the pathophysiology of HGPS. However, despite ubiquitous expression of lamin A in all differentiated cells...... also been found in several tissues from normal individuals, but it is not clear if low levels of progerin contribute to the aging of the brain. In an attempt to clarify the origin of this phenomenon, we have developed an inducible transgenic mouse model with expression of the most common HGPS mutation...... of hippocampal neurons of HGPS animals, there were only negligible changes in gene expression after 63 weeks of transgenic expression. Behavioral analysis and neurogenesis assays, following long-term expression of the HGPS mutation, did not reveal significant pathology. Our results suggest that certain tissues...

  19. [A-type lamins and progeroïd syndromes : persistent farnesylation with dramatic effects].

    Science.gov (United States)

    Navarro, Claire L; Poitelon, Yannick; Lévy, Nicolas

    2008-10-01

    Hutchinson-Gilford Progeria (HGPS), a rare and severe developmental disorder characterized by features recalling premature aging, and Restrictive Dermopathy (RD), a neonatal lethal genodermatosis, have recently been identified as being primary or secondary . These heterogeneous disorders are caused by altered Lamin maturation pathway. In physiological conditions, mature Lamin A is obtained through a series of post-translational processing steps performed on a protein precursor, Prelamin A. The major pathophysiological mechanism involved in Progeria is an aberrant splicing due to a de novo heterozygous point mutation, leading to the accumulation of truncated Lamin A precursor. The same aberrant splicing mechanism was involved in RD, whereas the majority of RD cases are caused by ZMPSTE24/FACE1 inactivation, a key enzyme involved in the Lamin A maturation pathway. In functional terms, all these conditions share the same pathophysiological mechanism, i.e. the intranuclear accumulation of Lamin A precursors, which cannot be fully processed and exert a toxic effect on nuclear homeostasis. In this article, we review the structure and functions of A-type Lamins, focusing namely on HGPS, RD or MAD disorders, in relation to existing animal models and possible future therapeutic approaches.

  20. Sporadic premature aging in a Japanese monkey: a primate model for progeria.

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    Takao Oishi

    Full Text Available In our institute, we have recently found a child Japanese monkey who is characterized by deep wrinkles of the skin and cataract of bilateral eyes. Numbers of analyses were performed to identify symptoms representing different aspects of aging. In this monkey, the cell cycle of fibroblasts at early passage was significantly extended as compared to a normal control. Moreover, both the appearance of senescent cells and the deficiency in DNA repair were observed. Also, pathological examination showed that this monkey has poikiloderma with superficial telangiectasia, and biochemical assay confirmed that levels of HbA1c and urinary hyaluronan were higher than those of other (child, adult, and aged monkey groups. Of particular interest was that our MRI analysis revealed expansion of the cerebral sulci and lateral ventricles probably due to shrinkage of the cerebral cortex and the hippocampus. In addition, the conduction velocity of a peripheral sensory but not motor nerve was lower than in adult and child monkeys, and as low as in aged monkeys. However, we could not detect any individual-unique mutations of known genes responsible for major progeroid syndromes. The present results indicate that the monkey suffers from a kind of progeria that is not necessarily typical to human progeroid syndromes.

  1. Experiment list: SRX200042 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available 1023616: H3K27me3 ChIP, HGPS, p14; Homo sapiens; ChIP-Seq source_name=patient forearm skin biopsy, H3K27me3 ...ChIP || disease status=Hutchinson-Gilford progeria syndrome || tissue=forearm skin biopsy || cell type=fibro

  2. Experiment list: SRX200053 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available 97.8,3.9,968 GSM1023627: LaminA ChIP, HGPS, p16, INPUT, rep2; Homo sapiens; ChIP-Seq source_name=patient forearm skin biopsy..., input || disease status=Hutchinson-Gilford progeria syndrome || tissue=forearm skin biopsy

  3. Experiment list: SRX200043 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available 97.1,7.0,1190 GSM1023617: H3K27me3 ChIP, HGPS, p14, INPUT; Homo sapiens; ChIP-Seq source_name=patient forearm skin biopsy..., input || disease status=Hutchinson-Gilford progeria syndrome || tissue=forearm skin biopsy ||

  4. Experiment list: SRX200051 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available 98.0,3.9,1297 GSM1023625: LaminA ChIP, HGPS, p16, INPUT, rep1; Homo sapiens; ChIP-Seq source_name=patient forearm skin biopsy..., input || disease status=Hutchinson-Gilford progeria syndrome || tissue=forearm skin biopsy

  5. Experiment list: SRX200050 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available GSM1023624: LaminA ChIP, HGPS, p16, rep1; Homo sapiens; ChIP-Seq source_name=patient forearm skin biopsy, l...amin ChIP || disease status=Hutchinson-Gilford progeria syndrome || tissue=forearm skin biopsy || cell type=

  6. Experiment list: SRX200045 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available 97.6,4.5,1339 GSM1023619: H3K27me3 ChIP, HGPS, p17, INPUT; Homo sapiens; ChIP-Seq source_name=patient forearm skin biopsy..., input || disease status=Hutchinson-Gilford progeria syndrome || tissue=forearm skin biopsy ||

  7. Experiment list: SRX200052 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available 4 GSM1023626: LaminA ChIP, HGPS, p16, rep2; Homo sapiens; ChIP-Seq source_name=patient forearm skin biopsy, ...lamin ChIP || disease status=Hutchinson-Gilford progeria syndrome || tissue=forearm skin biopsy || cell type

  8. Experiment list: SRX200044 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available M1023618: H3K27me3 ChIP, HGPS, p17; Homo sapiens; ChIP-Seq source_name=patient forearm skin biopsy, H3K27me3... ChIP || disease status=Hutchinson-Gilford progeria syndrome || tissue=forearm skin biopsy || cell type=fibr

  9. Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice

    NARCIS (Netherlands)

    van de Ven, Marieke; Andressoo, Jaan-Olle; Holcomb, Valerie B.; von Lindern, Marieke; Jong, Willeke M. C.; de Zeeuw, Chris I.; Suh, Yousin; Hasty, Paul; Hoeijmakers, Jan H. J.; van der Horst, Gijsbertus T. J.; Mitchell, James R.

    2006-01-01

    How congenital defects causing genome instability can result in the pleiotropic symptoms reminiscent of aging but in a segmental and accelerated fashion remains largely unknown. Most segmental progerias are associated with accelerated fibroblast senescence, suggesting that cellular senescence is a

  10. Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria

    Directory of Open Access Journals (Sweden)

    S Dominici

    2009-08-01

    Full Text Available Lamin A is a component of the nuclear lamina mutated in a group of human inherited disorders known as laminopathies. Among laminopathies, progeroid syndromes and lipodystrophies feature accumulation of prelamin A, the precursor protein which, in normal cells, undergoes a multi-step processing to yield mature lamin A. It is of utmost importance to characterize the prelamin A form accumulated in each laminopathy, since existing evidence shows that drugs acting on protein processing can improve some pathological aspects.We report that two antibodies raised against differently modified prelamin A peptides show a clear specificity to full-length prelamin A or carboxymethylated farnesylated prelamin A, respectively. Using these antibodies, we demonstrated that inhibition of the prelamin A endoprotease ZMPSTE24 mostly elicits accumulation of full-length prelamin A in its farnesylated form, while loss of the prelamin A cleavage site causes accumulation of carboxymethylated prelamin A in progeria cells. These results suggest a major role of ZMPSTE24 in the first prelamin A cleavage step.

  11. Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria

    Directory of Open Access Journals (Sweden)

    G Lattanzi

    2009-03-01

    Full Text Available Lamin A is a component of the nuclear lamina mutated in a group of human inherited disorders known as laminopathies. Among laminopathies, progeroid syndromes and lipodystrophies feature accumulation of prelamin A, the precursor protein which, in normal cells, undergoes a multi-step processing to yield mature lamin A. It is of utmost importance to characterize the prelamin A form accumulated in each laminopathy, since existing evidence shows that drugs acting on protein processing can improve some pathological aspects.We report that two antibodies raised against differently modified prelamin A peptides show a clear specificity to full-length prelamin A or carboxymethylated farnesylated prelamin A, respectively. Using these antibodies, we demonstrated that inhibition of the prelamin A endoprotease ZMPSTE24 mostly elicits accumulation of full-length prelamin A in its farnesylated form, while loss of the prelamin A cleavage site causes accumulation of carboxymethylated prelamin A in progeria cells. These results suggest a major role of ZMPSTE24 in the first prelamin A cleavage step.

  12. Mechanisms of cardiovascular disease in accelerated aging syndromes.

    Science.gov (United States)

    Capell, Brian C; Collins, Francis S; Nabel, Elizabeth G

    2007-07-06

    In the past several years, remarkable progress has been made in the understanding of the mechanisms of premature aging. These rare, genetic conditions offer valuable insights into the normal aging process and the complex biology of cardiovascular disease. Many of these advances have been made in the most dramatic of these disorders, Hutchinson-Gilford progeria syndrome. Although characterized by features of normal aging such as alopecia, skin wrinkling, and osteoporosis, patients with Hutchinson-Gilford progeria syndrome are affected by accelerated, premature arteriosclerotic disease that leads to heart attacks and strokes at a mean age of 13 years. In this review, we highlight recent advances in the biology of premature aging uncovered in Hutchinson-Gilford progeria syndrome and other accelerated aging syndromes, advances that provide insight into the mechanisms of cardiovascular diseases ranging from atherosclerosis to arrhythmias.

  13. An unidentified neonatal progeroid syndrome: follow-up report.

    Science.gov (United States)

    Wiedemann, H R

    1979-01-18

    Two male infants with a pseudo-hydrocephalic progeroid syndrome with natal teeth are compared with two very similar female cases reported in the literature and interpreted as congenital progeria. All these cases may represent a separate entity, a previously unrecognized genetic progeroid syndrome.

  14. Could Metabolic Syndrome, Lipodystrophy, and Aging Be Mesenchymal Stem Cell Exhaustion Syndromes?

    Directory of Open Access Journals (Sweden)

    Eduardo Mansilla

    2011-01-01

    Full Text Available One of the most important and complex diseases of modern society is metabolic syndrome. This syndrome has not been completely understood, and therefore an effective treatment is not available yet. We propose a possible stem cell mechanism involved in the development of metabolic syndrome. This way of thinking lets us consider also other significant pathologies that could have similar etiopathogenic pathways, like lipodystrophic syndromes, progeria, and aging. All these clinical situations could be the consequence of a progressive and persistent stem cell exhaustion syndrome (SCES. The main outcome of this SCES would be an irreversible loss of the effective regenerative mesenchymal stem cells (MSCs pools. In this way, the normal repairing capacities of the organism could become inefficient. Our point of view could open the possibility for a new strategy of treatment in metabolic syndrome, lipodystrophic syndromes, progeria, and even aging: stem cell therapies.

  15. Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.

    Directory of Open Access Journals (Sweden)

    Jaan-Olle Andressoo

    2006-10-01

    Full Text Available Although compound heterozygosity, or the presence of two different mutant alleles of the same gene, is common in human recessive disease, its potential to impact disease outcome has not been well documented. This is most likely because of the inherent difficulty in distinguishing specific biallelic effects from differences in environment or genetic background. We addressed the potential of different recessive alleles to contribute to the enigmatic pleiotropy associated with XPD recessive disorders in compound heterozygous mouse models. Alterations in this essential helicase, with functions in both DNA repair and basal transcription, result in diverse pathologies ranging from elevated UV sensitivity and cancer predisposition to accelerated segmental progeria. We report a variety of biallelic effects on organismal phenotype attributable to combinations of recessive Xpd alleles, including the following: (i the ability of homozygous lethal Xpd alleles to ameliorate a variety of disease symptoms when their essential basal transcription function is supplied by a different disease-causing allele, (ii differential developmental and tissue-specific functions of distinct Xpd allele products, and (iii interallelic complementation, a phenomenon rarely reported at clinically relevant loci in mammals. Our data suggest a re-evaluation of the contribution of "null" alleles to XPD disorders and highlight the potential of combinations of recessive alleles to affect both normal and pathological phenotypic plasticity in mammals.

  16. Genome-wide redistribution of BRD4 binding sites in transformation resistant cells

    Directory of Open Access Journals (Sweden)

    Han Si

    2015-03-01

    Full Text Available Hutchinson–Gilford progeria syndrome (HGPS patients do not develop cancer despite a significant accumulation of DNA damage in their cells. We have recently reported that HGPS cells are refractory to experimental oncogenic transformation and we identified the bromodomain-containing 4 protein (BRD4 as a mediator of the transformation resistance. ChIP-sequencing experiments revealed distinct genome-wide binding patterns for BRD4 in HGPS cells when compared to control wild type cells. Here we provide a detailed description of the ChIP-seq dataset (NCBI GEO accession number GSE61325, the specific and common BRD4 binding sites between HGPS and control cells, and the data analysis procedure associated with the publication by Fernandez et al., 2014 in Cell Reports 9, 248-260 [1].

  17. Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.

    Science.gov (United States)

    Madej-Pilarczyk, Agnieszka; Kmieć, Tomasz; Fidziańska, Anna; Rekawek, Joanna; Niebrój-Dobosz, Irena; Turska-Kmieć, Anna; Nestorowicz, Klaudia; Jóźwiak, Sergiusz; Hausmanowa-Petrusewicz, Irena

    2008-09-01

    We present a 6-year-old girl with premature aging associated with mild myopathy, displaying muscle weakness, joint contractures and hyporeflexia. Genetic analysis revealed rare heterozygous point mutation in lamin A/C gene, g.428C>T. Cardiological evaluation showed atrial fibrillation, but we did not find signs of coronary heart disease, which is life-threatening cardiovascular complication in progeria. Electron microscopy of the muscle revealed abnormalities in nuclear architecture, i.e. blebbing, thick lamina and peripheral distribution of heterochromatin. As some diagnostic criteria characteristic for classic progeria are not fulfilled, this case could be regarded as atypical progeria associated with myopathy and atrial fibrillation. To our knowledge, this is the second case of such association described in the literature.

  18. Computational Exploration for Lead Compounds That Can Reverse the Nuclear Morphology in Progeria

    Directory of Open Access Journals (Sweden)

    Shailima Rampogu

    2017-01-01

    Full Text Available Progeria is a rare genetic disorder characterized by premature aging that eventually leads to death and is noticed globally. Despite alarming conditions, this disease lacks effective medications; however, the farnesyltransferase inhibitors (FTIs are a hope in the dark. Therefore, the objective of the present article is to identify new compounds from the databases employing pharmacophore based virtual screening. Utilizing nine training set compounds along with lonafarnib, a common feature pharmacophore was constructed consisting of four features. The validated Hypo1 was subsequently allowed to screen Maybridge, Chembridge, and Asinex databases to retrieve the novel lead candidates, which were then subjected to Lipinski’s rule of 5 and ADMET for drug-like assessment. The obtained 3,372 compounds were forwarded to docking simulations and were manually examined for the key interactions with the crucial residues. Two compounds that have demonstrated a higher dock score than the reference compounds and showed interactions with the crucial residues were subjected to MD simulations and binding free energy calculations to assess the stability of docked conformation and to investigate the binding interactions in detail. Furthermore, this study suggests that the Hits may be more effective against progeria and further the DFT studies were executed to understand their orbital energies.

  19. First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure

    OpenAIRE

    Jaspers, Nicolaas G.J.; Raams, Anja; Silengo, Margherita Cirillo; Wijgers, Nils; Niedernhofer, Laura J; Robinson, Andria Rasile; Giglia-Mari, Giuseppina; Hoogstraten, Deborah; Kleijer, Wim J.; Hoeijmakers, Jan H.J.; Vermeulen, Wim

    2007-01-01

    Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucleases required for NER. Mutations in XPF are associated with mild XP and rarely with progeria. Mutati...

  20. Skeletal abnormalities of acrogeria, a progeroid syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ho, A.; White, S.J.; Rasmussen, J.E.

    1987-08-01

    We report the skeletal abnormalities in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of premature aging of the skin without the involvement of internal organs seen in Hutchinson-Gilford progeria syndrome. Acro-osteolysis of the distal phalanges, delayed cranial suture closure with wormian bones, linear lucent defects of the metaphyses, and antegonial notching of the mandible are the predominant skeletal features of the disorder. The skeletal features described in 21 other reported cases of acrogeria are summarized.

  1. Nucleolar expansion and elevated protein translation in premature aging.

    Science.gov (United States)

    Buchwalter, Abigail; Hetzer, Martin W

    2017-08-30

    Premature aging disorders provide an opportunity to study the mechanisms that drive aging. In Hutchinson-Gilford progeria syndrome (HGPS), a mutant form of the nuclear scaffold protein lamin A distorts nuclei and sequesters nuclear proteins. We sought to investigate protein homeostasis in this disease. Here, we report a widespread increase in protein turnover in HGPS-derived cells compared to normal cells. We determine that global protein synthesis is elevated as a consequence of activated nucleoli and enhanced ribosome biogenesis in HGPS-derived fibroblasts. Depleting normal lamin A or inducing mutant lamin A expression are each sufficient to drive nucleolar expansion. We further show that nucleolar size correlates with donor age in primary fibroblasts derived from healthy individuals and that ribosomal RNA production increases with age, indicating that nucleolar size and activity can serve as aging biomarkers. While limiting ribosome biogenesis extends lifespan in several systems, we show that increased ribosome biogenesis and activity are a hallmark of premature aging.HGPS is a premature aging disease caused by mutations in the nuclear protein lamin A. Here, the authors show that cells from patients with HGPS have expanded nucleoli and increased protein synthesis, and report that nucleoli also expand as aging progresses in cells derived from healthy individuals.

  2. Nondetectable cone and rod electroretinographic responses in a patient with Cockayne syndrome.

    Science.gov (United States)

    Ikeda, N; Yamamoto, S; Hayasaka, S; Fukuo, Y; Koike, T

    1995-01-01

    A 10-year-old girl complained or poor vision in both eyes. The patient showed progeria, physical and mental retardation, sensorineural hearing loss, cutaneous photosensitivity, hyperopia, poor pupillary dilation, exotropia, salt-and-pepper fundi, nondetectable cone and rod electroretinographic (ERG) responses, cerebral atrophy on computed tomography, and demyelination of periventricular white matter on magnetic resonance imaging. We believe that nondetectable cone and rod ERG responses in Cockayne syndrome, as demonstrated in our patient, may be uncommon.

  3. Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice.

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    Marieke van de Ven

    2006-12-01

    Full Text Available How congenital defects causing genome instability can result in the pleiotropic symptoms reminiscent of aging but in a segmental and accelerated fashion remains largely unknown. Most segmental progerias are associated with accelerated fibroblast senescence, suggesting that cellular senescence is a likely contributing mechanism. Contrary to expectations, neither accelerated senescence nor acute oxidative stress hypersensitivity was detected in primary fibroblast or erythroblast cultures from multiple progeroid mouse models for defects in the nucleotide excision DNA repair pathway, which share premature aging features including postnatal growth retardation, cerebellar ataxia, and death before weaning. Instead, we report a prominent phenotypic overlap with long-lived dwarfism and calorie restriction during postnatal development (2 wk of age, including reduced size, reduced body temperature, hypoglycemia, and perturbation of the growth hormone/insulin-like growth factor 1 neuroendocrine axis. These symptoms were also present at 2 wk of age in a novel progeroid nucleotide excision repair-deficient mouse model (XPD(G602D/R722W/XPA(-/- that survived weaning with high penetrance. However, despite persistent cachectic dwarfism, blood glucose and serum insulin-like growth factor 1 levels returned to normal by 10 wk, with hypoglycemia reappearing near premature death at 5 mo of age. These data strongly suggest changes in energy metabolism as part of an adaptive response during the stressful period of postnatal growth. Interestingly, a similar perturbation of the postnatal growth axis was not detected in another progeroid mouse model, the double-strand DNA break repair deficient Ku80(-/- mouse. Specific (but not all types of genome instability may thus engage a conserved response to stress that evolved to cope with environmental pressures such as food shortage.

  4. Chemical inhibition of NAT10 corrects defects of laminopathic cells

    Science.gov (United States)

    Larrieu, Delphine; Britton, Sébastien; Demir, Mukerrem; Rodriguez, Raphaël; Jackson, Stephen P.

    2014-01-01

    Downregulation and mutations of the nuclear-architecture proteins Lamin A and C cause misshapen nuclei and altered chromatin organization associated with cancer and laminopathies, including the premature-aging disease Hutchinson-Gilford progeria syndrome (HGPS). Here, we identified the small molecule “Remodelin” that improved nuclear architecture, chromatin organization and fitness of both human Lamin A/C depleted cells and HGPS-derived patient cells, and decreased markers of DNA damage in these cells. Using a combination of chemical, cellular and genetic approaches, we identified the acetyl-transferase protein NAT10 as the target of Remodelin that mediated nuclear shape rescue in laminopathic cells via microtubule reorganization. These findings provide insights into how NAT10 affects nuclear architecture, and suggest alternative strategies for treating laminopathies and aging. PMID:24786082

  5. Overexpression of Lamin B Receptor Results in Impaired Skin Differentiation.

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    Agustín Sola Carvajal

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare segmental progeroid disorder commonly caused by a point mutation in the LMNA gene that results in the increased activation of an intra-exonic splice site and the production of a truncated lamin A protein, named progerin. In our previous work, induced murine epidermal expression of this specific HGPS LMNA mutation showed impaired keratinocyte differentiation and upregulated lamin B receptor (LBR expression in suprabasal keratinocytes. Here, we have developed a novel transgenic animal model with induced overexpression of LBR in the interfollicular epidermis. LBR overexpression resulted in epidermal hypoplasia, along with the downregulation and mislocalization of keratin 10, suggesting impaired keratinocyte differentiation. Increased LBR expression in basal and suprabasal cells did not coincide with increased proliferation. Similar to our previous report of HGPS mice, analyses of γH2AX, a marker of DNA double-strand breaks, revealed an increased number of keratinocytes with multiple foci in LBR-overexpressing mice compared with wild-type mice. In addition, suprabasal LBR-positive cells showed densely condensed and peripherally localized chromatin. Our results show a moderate skin differentiation phenotype, which indicates that upregulation of LBR is not the sole contributor to the HGPS phenotype.

  6. Transformation Resistance in a Premature Aging Disorder Identifies a Tumor-Protective Function of BRD4

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    Patricia Fernandez

    2014-10-01

    Full Text Available Advanced age and DNA damage accumulation are prominent risk factors for cancer. The premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS provides a unique opportunity for studying the interplay between DNA damage and aging-associated tumor mechanisms, given that HGPS patients do not develop tumors despite elevated levels of DNA damage. Here, we have used HGPS patient cells to identify a protective mechanism to oncogenesis. We find that HGPS cells are resistant to neoplastic transformation. Resistance is mediated by the bromodomain protein BRD4, which exhibits altered genome-wide binding patterns in transformation-resistant cells, leading to inhibition of oncogenic dedifferentiation. BRD4 also inhibits, albeit to a lower extent, the tumorigenic potential of transformed cells from healthy individuals. BRD4-mediated tumor protection is clinically relevant given that a BRD4 gene signature predicts positive clinical outcome in breast and lung cancer. Our results demonstrate a protective function for BRD4 and suggest tissue-specific roles for BRD4 in tumorigenesis.

  7. Longwave UV light induces the aging-associated progerin.

    Science.gov (United States)

    Takeuchi, Hirotaka; Rünger, Thomas M

    2013-07-01

    Premature aging in Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutation of the LMNA gene that activates a cryptic splice site. This results in expression of a truncated form of Lamin A, called progerin. Accumulation of progerin in the nuclei of HGPS cells impairs nuclear functions and causes abnormal nuclear morphology. Progerin accumulation has not only been described in HGPS, but also during normal intrinsic aging. We hypothesized that accumulation of progerin with abnormal nuclear shapes may also be accelerated by UV and with that contribute to photoaging of the skin. We exposed neonatal or aged cultured fibroblasts to single or repeated doses of longwave or shortwave UV (UVA or UVB) and found that UVA, but not UVB, induces progerin expression and HGPS-like abnormal nuclear shapes in all cells, but more in aged cells. The induction of progerin is mediated by UVA-induced oxidative damage and subsequent alternative splicing of the LMNA transcript, as progerin induction was suppressed by the singlet oxygen quencher sodium azide, and as mRNA expression of LMNA was not induced by UVA. These data suggest a previously unreported pathway of photoaging and support the concept that photoaging is at least in part a process of damage-accelerated intrinsic aging.

  8. Overexpression of Lamin B Receptor Results in Impaired Skin Differentiation.

    Science.gov (United States)

    Sola Carvajal, Agustín; McKenna, Tomás; Wallén Arzt, Emelie; Eriksson, Maria

    2015-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare segmental progeroid disorder commonly caused by a point mutation in the LMNA gene that results in the increased activation of an intra-exonic splice site and the production of a truncated lamin A protein, named progerin. In our previous work, induced murine epidermal expression of this specific HGPS LMNA mutation showed impaired keratinocyte differentiation and upregulated lamin B receptor (LBR) expression in suprabasal keratinocytes. Here, we have developed a novel transgenic animal model with induced overexpression of LBR in the interfollicular epidermis. LBR overexpression resulted in epidermal hypoplasia, along with the downregulation and mislocalization of keratin 10, suggesting impaired keratinocyte differentiation. Increased LBR expression in basal and suprabasal cells did not coincide with increased proliferation. Similar to our previous report of HGPS mice, analyses of γH2AX, a marker of DNA double-strand breaks, revealed an increased number of keratinocytes with multiple foci in LBR-overexpressing mice compared with wild-type mice. In addition, suprabasal LBR-positive cells showed densely condensed and peripherally localized chromatin. Our results show a moderate skin differentiation phenotype, which indicates that upregulation of LBR is not the sole contributor to the HGPS phenotype.

  9. The epidemiology of premature aging and associated comorbidities

    National Research Council Canada - National Science Library

    Coppedè, Fabio

    2013-01-01

    Hutchinson-Gilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood-progeria, respectively, represent two of the best characterized human progeroid diseases with clinical...

  10. An adult case of Cockayne syndrome without sclerotic angiopathy.

    Science.gov (United States)

    Inoue, T; Sano, N; Ito, Y; Matsuzaki, Y; Okauchi, Y; Kondo, H; Horiuchi, N; Nakao, K; Iwata, M

    1997-08-01

    We report an autopsy case of Cockayne syndrome (CS). A 40-year-old Japanese woman was admitted to our hospital for cachexia. She had displayed the striking features of CS, including dwarfism, mental retardation, neural deafness, ataxia, intracranial calcifications, and progeria since her childhood. Endocrinological examinations suggested normal pituitary function and a disorder of the hypothalamus or the cerebrum. She died of acute pneumonia at the age of 42. Autopsy findings showed typical abnormalities in the central nervous system compatible with CS; however, no atherosclerotic change was observed in the systemic arteries.

  11. Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells

    Directory of Open Access Journals (Sweden)

    Dido Carrero

    2016-07-01

    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.

  12. Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development.

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    Sofía Rodríguez

    Full Text Available Today, there are at least a dozen different genetic disorders caused by mutations within the LMNA gene, and collectively, they are named laminopathies. Interestingly, the same mutation can cause phenotypes with different severities or even different disorders and might, in some cases, be asymptomatic. We hypothesized that one possible contributing mechanism for this phenotypic variability could be the existence of high and low expressing alleles in the LMNA locus. To investigate this hypothesis, we developed an allele-specific absolute quantification method for lamin A and lamin C transcripts using the polymorphic rs4641(C/TLMNA coding SNP. The contribution of each allele to the total transcript level was investigated in nine informative human primary dermal fibroblast cultures from Hutchinson-Gilford progeria syndrome (HGPS and unaffected controls. Our results show differential expression of the two alleles. The C allele is more frequently expressed and accounts for ∼70% of the lamin A and lamin C transcripts. Analysis of samples from six patients with Hutchinson-Gilford progeria syndrome showed that the c.1824C>T, p.G608G mutation is located in both the C and the T allele, which might account for the variability in phenotype seen among HGPS patients. Our method should be useful for further studies of human samples with mutations in the LMNA gene and to increase the understanding of the link between genotype and phenotype in laminopathies.

  13. [Cockayne syndrome and epidermolysis bullosa dystrophica (Hallopeau-Siemens). Simultaneous occurrence in a family].

    Science.gov (United States)

    Lubach, D; Riechers, U

    1982-09-01

    A Turkish family with four children is described, two boys suffering from Cockayne's syndrome and a girl from recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens). The outstanding features in the brothers are a pronounced delay in growth which began in both children at the age of about 1.5 years, progeria-like facial features, and a high degree of light sensitivity noticed very soon after birth. The daughter died of septicemia at the age of 4 years. Both diseases are rare and probably the consequence of extremely high consanguinity.

  14. [Neonatal progeroid syndrome (Wiedemann-Rautenstrauch). A follow-up study].

    Science.gov (United States)

    Rautenstrauch, T; Snigula, F; Wiedemann, H R

    1994-01-01

    The diagnostic criteria of the neonatal progeroid syndrome (NPS) are: intrauterine and postnatal growth failure, hydrocephalic appearance, prominent scalp veins, old-looking face, absence of subcutaneous fat and neonatal teeth. Until now altogether nine cases have been reported, which were predominant diagnosed in infant age. The NPS is in general assigned to the autosomal recessive trait. With increasing age the outward appearance stays unchanged. The in 1977 under diagnose progeria presented patient is now 16 years old. With her a considerable atactic movement disturbance developed next to a psychomotoric retardation. The change in metabolism of proteoglycane that was remarkable in infant age is now no longer provable.

  15. Discrepancy between electroencephalography and hemodynamics in a patient with Cockayne syndrome during general anesthesia.

    Science.gov (United States)

    Tsukamoto, Masanori; Hitosugi, Takashi; Yokoyama, Takeshi

    2016-12-01

    Cockayne syndrome is a kind of progeria with autosomal chromosome recessiveness described first by Cockayne in 1936. Patients with this syndrome were characterized by retarded growth, cerebral atrophy, and mental retardation. We experienced an anesthetic management of a patient with Cockayne syndrome, who underwent dental treatment twice. The primary concern was discrepancy between electroencephalography and hemodynamics. The values of bispectral index showed a sharp fall to 1 digit and suppression ratio more than 40, while hemodynamics was stable during induction of anesthesia with sevoflurane 8%. We should pay attention to anesthetic depth in the central nervous system in patients with Cockayne syndrome. Titration of anesthetics should be performed by the information from electroencephalography. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Lamin A, farnesylation and aging

    Energy Technology Data Exchange (ETDEWEB)

    Reddy, Sita [Department of Biochemistry and Molecular Biology, Institute for Genetic Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033 (United States); Comai, Lucio, E-mail: comai@usc.edu [Department of Molecular Microbiology and Immunology, Institute for Genetic Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033 (United States)

    2012-01-01

    Lamin A is a component of the nuclear envelope that is synthesized as a precursor prelamin A molecule and then processed into mature lamin A through sequential steps of posttranslational modifications and proteolytic cleavages. Remarkably, over 400 distinct point mutations have been so far identified throughout the LMNA gene, which result in the development of at least ten distinct human disorders, collectively known as laminopathies, among which is the premature aging disease Hutchinson-Gilford progeria syndrome (HGPS). The majority of HGPS cases are associated with a single point mutation in the LMNA gene that causes the production of a permanently farnesylated mutant lamin A protein termed progerin. The mechanism by which progerin leads to premature aging and the classical HGPS disease phenotype as well as the relationship between this disorder and the onset of analogous symptoms during the lifespan of a normal individual are not well understood. Yet, recent studies have provided critical insights on the cellular processes that are affected by accumulation of progerin and have suggested that cellular alterations in the lamin A processing pathway leading to the accumulation of farnesylated prelamin A intermediates may play a role in the aging process in the general population. In this review we provide a short background on lamin A and its maturation pathway and discuss the current knowledge of how progerin or alterations in the prelamin A processing pathway are thought to influence cell function and contribute to human aging.

  17. Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

    Directory of Open Access Journals (Sweden)

    Shaochun Bai

    2014-01-01

    Full Text Available Mandibuloacral dysplasia (MAD is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. Hutchinson-Gilford Progeria Syndrome (HGPS is characterized by the clinical features of accelerated aging in childhood. Both MAD and HGPS can be caused by mutations in the LMNA gene. In this study, we describe a 2-year-old boy with overlapping features of MAD and HGPS. Mutation analysis of the LMNA gene revealed a homozygous missense change, p.M540T, while only the mother carries the mutation. Uniparental disomy (UPD analysis for chromosome 1 showed the presence of maternal UPD. Markers in the 1q21.3–q22 region flanking the LMNA locus were isodisomic, while markers in the short arm and distal 1q region were heterodisomic. These results suggest that nondisjunction in maternal meiosis followed by loss of the paternal chromosome 1 during trisomy rescue might result in the UPD1 and homozygosity for the p.M540T mutation observed in this patient.

  18. Lamin A Is an Endogenous SIRT6 Activator and Promotes SIRT6-Mediated DNA Repair

    Directory of Open Access Journals (Sweden)

    Shrestha Ghosh

    2015-11-01

    Full Text Available The nuclear lamins are essential for various molecular events in the nucleus, such as chromatin organization, DNA replication, and provision of mechanical support. A specific point mutation in the LMNA gene creates a truncated prelamin A termed progerin, causing Hutchinson-Gilford progeria syndrome (HGPS. SIRT6 deficiency leads to defective genomic maintenance and accelerated aging similar to HGPS, suggesting a potential link between lamin A and SIRT6. Here, we report that lamin A is an endogenous activator of SIRT6 and facilitates chromatin localization of SIRT6 upon DNA damage. Lamin A promotes SIRT6-dependent DNA-PKcs (DNA-PK catalytic subunit recruitment to chromatin, CtIP deacetylation, and PARP1 mono-ADP ribosylation in response to DNA damage. The presence of progerin jeopardizes SIRT6 activation and compromises SIRT6-mediated molecular events in response to DNA damage. These data reveal a critical role for lamin A in regulating SIRT6 activities, suggesting that defects in SIRT6 functions contribute to impaired DNA repair and accelerated aging in HGPS.

  19. Organization of inner cellular components as reported by a viscosity-sensitive fluorescent Bodipy probe suitable for phasor approach to FLIM.

    Science.gov (United States)

    Ferri, Gianmarco; Nucara, Luca; Biver, Tarita; Battisti, Antonella; Signore, Giovanni; Bizzarri, Ranieri

    2016-01-01

    According to the recent developments in imaging strategies and in tailoring fluorescent molecule as probe for monitoring biological systems, we coupled a Bodipy-based molecular rotor (BoMe) with FLIM phasor approach to evaluate the viscosity in different intracellular domains. BoMe rapidly permeates cells, stains cytoplasmic as well as nuclear domains, and its optical properties make it perfectly suited for widely diffused confocal microscopy imaging setups. The capability of BoMe to report on intracellular viscosity was put to the test by using a cellular model of a morbid genetic pathology (Hutchinson-Gilford progeria syndrome, HGPS). Our results show that the nucleoplasm of HGPS cells display reduced viscosity as compared to normal cells. Since BoMe displays significant affinity towards DNA, as demonstrated by an in vitro essay, we hypothesize that genetic features of HGPS, namely the misassembly of lamin A protein within the nuclear lamina, modulates chromatin compaction. This hypothesis nicely agrees with literature data. Copyright © 2015 Elsevier B.V. All rights reserved.

  20. Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

    Science.gov (United States)

    Cau, Pierre; Navarro, Claire; Harhouri, Karim; Roll, Patrice; Sigaudy, Sabine; Kaspi, Elise; Perrin, Sophie; De Sandre-Giovannoli, Annachiara; Lévy, Nicolas

    2014-05-01

    Lamin A-related progeroid syndromes are genetically determined, extremely rare and severe. In the past ten years, our knowledge and perspectives for these diseases has widely progressed, through the progressive dissection of their pathophysiological mechanisms leading to precocious and accelerated aging, from the genes mutations discovery until therapeutic trials in affected children. A-type lamins are major actors in several structural and functional activities at the nuclear periphery, as they are major components of the nuclear lamina. However, while this is usually poorly considered, they also play a key role within the rest of the nucleoplasm, whose defects are related to cell senescence. Although nuclear shape and nuclear envelope deformities are obvious and visible events, nuclear matrix disorganization and abnormal composition certainly represent the most important causes of cell defects with dramatic pathological consequences. Therefore, lamin-associated diseases should be better referred as laminopathies instead of envelopathies, this later being too restrictive, considering neither the key structural and functional roles of soluble lamins in the entire nucleoplasm, nor the nuclear matrix contribution to the pathophysiology of lamin-associated disorders and in particular in defective lamin A processing-associated aging diseases. Based on both our understanding of pathophysiological mechanisms and the biological and clinical consequences of progeria and related diseases, therapeutic trials have been conducted in patients and were terminated less than 10 years after the gene discovery, a quite fast issue for a genetic disease. Pharmacological drugs have been repurposed and used to decrease the toxicity of the accumulated, unprocessed and truncated prelaminA in progeria. To date, none of them may be considered as a cure for progeria and these clinical strategies were essentially designed toward reducing a subset of the most dramatic and morbid features

  1. Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts.

    Science.gov (United States)

    Korniszewski, L; Nowak, R; Oknińska-Hoffmann, E; Skórka, A; Gieruszczak-Białek, D; Sawadro-Rochowska, M

    2001-10-01

    Wiedemann-Rautenstrauch (neonatal progeroid) syndrome is an autosomal recessive condition with characteristic appearance of premature aging present at birth (aged face, natal teeth, and wrinkled skin). Other features of the syndrome are generalized lipoatrophy with specific fat accumulation in the lateral suprabuttock region, hypotrichosis, macrocephaly (pseudohydrocephalus), and mental retardation. We report on a new case that demonstrates all typical features of the syndrome. The girl is now 16 years and 10 months old and has had follow-up from birth. We measured terminal restriction fragment (TRF) length to evaluate whether the patient's premature aging process is accompanied by shortening of telomere length in her cultured fibroblasts. Mean TRF of 13.5 kb found in our patient's fibroblasts is not shortened as compared to that of normal fibroblasts. Our results differ from those observed in Hutchinson-Gilford progeria. Copyright 2001 Wiley-Liss, Inc.

  2. Você conhece esta síndrome? Do you know this syndrome?

    Directory of Open Access Journals (Sweden)

    Josie da Costa Eiras

    2011-02-01

    Full Text Available A Síndrome de Huntchinson-Gilford (Progeria é uma rara doença autossômica dominante, caracterizada pelo envelhecimento precoce. Relata-se caso de uma criança, que aos 6 meses iniciou alopecia na região occipital e placas esclerodermiformes no abdome. Esta síndrome apresenta alterações em vários órgãos e sistemas como a pele, esquelético e sistema cardiovascular. O diagnóstico é clínico e não possui tratamento, porém seu reconhecimento é necessário para minimizar a aterosclerose precoce através do controle da dislipidemia.Huntchinson-Gilford Syndrome (Progeria is a rare autosomal dominant disease characterized by premature aging. It is reported the case of child whose alopecia started at the age of 6 months on the occipital region. The child also presented scleroderma plaques on the abdomen. This syndrome presents alterations in many organs and systems such as the skin and the skeletal and cardiovascular systems. The diagnosis is clinical and there is no treatment for it but recognition is necessary to minimize early atherosclerosis through the control of dyslipidemia.

  3. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

    Science.gov (United States)

    Graul-Neumann, Luitgard M; Kienitz, Tina; Robinson, Peter N; Baasanjav, Sevjidmaa; Karow, Benjamin; Gillessen-Kaesbach, Gabriele; Fahsold, Raimund; Schmidt, Hartmut; Hoffmann, Katrin; Passarge, Eberhard

    2010-11-01

    We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe myopia in addition to the severe generalized lipodystrophy. She lacked insulin resistance, hypertriglyceridemia, hepatic steatosis, and diabetes. Mutation analysis in the gene encoding fibrillin 1 (FBN1) revealed a novel de novo heterozygous deletion, c.8155_8156del2 in exon 64. The severe generalized lipodystrophy in this patient with progeroid features has not previously been described in other patients with MFS and FBN1 mutations. We did not find a mutation in genes known to be associated with congenital lipodystrophy (APGAT2, BSCL2, CAV1, PTRF-CAVIN, PPARG, LMNB2) or with Hutchinson-Gilford progeria (ZMPSTE24, LMNA/C). Other progeria syndromes were considered unlikely because premature greying, hypogonadism, and scleroderma-like skin disease were not present. Our patient shows striking similarity to two patients who have been published in this journal by O'Neill et al. [O'Neill et al. (2007); Am J Med Genet Part A 143A:1421-1430] with the diagnosis of neonatal progeroid syndrome (NPS). This condition also known as Wiedemann-Rautenstrauch syndrome is a rare disorder characterized by accelerated aging and lipodystrophy from birth, poor postnatal weight gain, and characteristic facial features. The course is usually progressive with early lethality. However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome. © 2010 Wiley-Liss, Inc.

  4. Progeria Research Foundation, Inc.

    Science.gov (United States)

    ... Find The Other 150 Kids Video Gallery In Memory Of Life According To Sam Awards & Reviews Buy & ... 2018 in Boston MA: Night of Wonder 2018: Music to your ears! Learn More College Diabetes Network ...

  5. Progeria 101/FAQ

    Science.gov (United States)

    ... growth failure, loss of body fat and hair, aged-looking skin and stiffness of joints. As children get older, they suffer from osteoporosis, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The ...

  6. Learning about Progeria

    Science.gov (United States)

    ... and Projects Grant Information NIH Common Fund NIH RePORTER Research at NHGRI An Overview Branches Clinical Research ... use of high-throughput screening technology to identify chemical compounds that might reverse nuclear membrane abnormalities of ...

  7. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.

    Science.gov (United States)

    Jaspers, Nicolaas G J; Raams, Anja; Silengo, Margherita Cirillo; Wijgers, Nils; Niedernhofer, Laura J; Robinson, Andria Rasile; Giglia-Mari, Giuseppina; Hoogstraten, Deborah; Kleijer, Wim J; Hoeijmakers, Jan H J; Vermeulen, Wim

    2007-03-01

    Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucleases required for NER. Mutations in XPF are associated with mild XP and rarely with progeria. Mutations in ERCC1 have not been reported. Here, we describe the first case of human inherited ERCC1 deficiency. Patient cells showed moderate hypersensitivity to ultraviolet rays and mitomycin C, yet the clinical features were very severe and, unexpectedly, were compatible with a diagnosis of cerebro-oculo-facio-skeletal syndrome. This discovery represents a novel complementation group of patients with defective NER. Further, the clinical severity, coupled with a relatively mild repair defect, suggests novel functions for ERCC1.

  8. The Potential of iPSCs for the Treatment of Premature Aging Disorders

    Directory of Open Access Journals (Sweden)

    Claudia Compagnucci

    2017-11-01

    Full Text Available Premature aging disorders including Hutchinson-Gilford progeria syndrome (HGPS and Werner syndrome, are a group of rare monogenic diseases leading to reduced lifespan of the patients. Importantly, these disorders mimic several features of physiological aging. Despite the interest on the study of these diseases, the underlying biological mechanisms remain unknown and no treatment is available. Recent studies on HGPS (due to mutations of the LMNA gene encoding for the nucleoskeletal proteins lamin A/C have reported disruptions in cellular and molecular mechanisms modulating genomic stability and stem cell populations, thus giving the nuclear lamina a relevant function in nuclear organization, epigenetic regulation and in the maintenance of the stem cell pool. In this context, modeling premature aging with induced pluripotent stem cells (iPSCs offers the possibility to study these disorders during self-renewal and differentiation into relevant cell types. iPSCs generated by cellular reprogramming from adult somatic cells allows researchers to understand pathophysiological mechanisms and enables the performance of drug screenings. Moreover, the recent development of precision genome editing offers the possibility to study the complex mechanisms underlying senescence and the possibility to correct disease phenotypes, paving the way for future therapeutic interventions.

  9. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  10. Altered splicing in prelamin A-associated premature aging phenotypes.

    Science.gov (United States)

    De Sandre-Giovannoli, Annachiara; Lévy, Nicolas

    2006-01-01

    Hutchinson-Gilford progeria (HGPS), a rare and severe developmental disorder characterized by features recalling premature aging, and restrictive dermopathy (RD), a neonatal lethal genodermatosis, have recently been identified as being primary or secondary "laminopathies." These are heterogeneous disorders due to altered function of lamins A/C or related proteins. In physiological conditions, mature lamin A is obtained through a series of post-translational processing steps performed on a protein precursor, prelamin A. The major pathophysiological mechanism involved in progeria is an aberrant splicing of pre-mRNAs issued from the LMNA gene, due to a de novo heterozygous point mutation, leading to the production and accumulation of truncated lamin A precursors. Aberrant splicing of prelamin A pre-mRNAs causing the production of more extensively truncated precursors is involved in the allelic disease restrictive dermopathy. Other restrictive dermopathy cases are due to the inactivation of a key enzyme involved in the maturation of lamin A precursors (ZMPSTE24). In functional terms, all these conditions share the same pathophysiological basis: intranuclear accumulation of lamin A precursors, which cannot be fully processed (due to primary or secondary events) and exert toxic, dominant negative effects on nuclear homeostasis. Most other laminopathies are due to autosomal dominant LMNA point mutations inferred to cause single amino acid substitutions. In any case, the impact of these mutations on pre-mRNA splicing has rarely been assessed. These disorders affect different tissues and organs, mainly including bone, skin, striated muscles, adipose tissue, vessels, and peripheral nerves in isolated or combined fashions, giving rise to syndromes whose severity ranges from mild to perinatally lethal. In this chapter we review the structure and functions of lamins A/C in physiological and pathological conditions, describe their known or putative roles, namely, in the

  11. Lamin A and microtubules collaborate to maintain nuclear morphology.

    Science.gov (United States)

    Tariq, Zeshan; Zhang, Haoyue; Chia-Liu, Alexander; Shen, Yang; Gete, Yantenew; Xiong, Zheng-Mei; Tocheny, Claire; Campanello, Leonard; Wu, Di; Losert, Wolfgang; Cao, Kan

    2017-07-04

    Lamin A (LA) is a critical structural component of the nuclear lamina. Mutations within the LA gene (LMNA) lead to several human disorders, most striking of which is Hutchinson-Gilford Progeria Syndrome (HGPS), a premature aging disorder. HGPS cells are best characterized by an abnormal nuclear morphology known as nuclear blebbing, which arises due to the accumulation of progerin, a dominant mutant form of LA. The microtubule (MT) network is known to mediate changes in nuclear morphology in the context of specific events such as mitosis, cell polarization, nucleus positioning and cellular migration. What is less understood is the role of the microtubule network in determining nuclear morphology during interphase. In this study, we elucidate the role of the cytoskeleton in regulation and misregulation of nuclear morphology through perturbations of both the lamina and the microtubule network. We found that LA knockout cells exhibit a crescent shape morphology associated with the microtubule-organizing center. Furthermore, this crescent shape ameliorates upon treatment with MT drugs, Nocodazole or Taxol. Expression of progerin, in LA knockout cells also rescues the crescent shape, although the response to Nocodazole or Taxol treatment is altered in comparison to cells expressing LA. Together these results describe a collaborative effort between LA and the MT network to maintain nuclear morphology.

  12. Brain vascular changes in Cockayne syndrome.

    Science.gov (United States)

    Hayashi, Masaharu; Miwa-Saito, Naho; Tanuma, Naoyuki; Kubota, Masaya

    2012-04-01

    Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are caused by deficient nucleotide excision repair. CS is characterized by cachectic dwarfism, mental disability, microcephaly and progeria features. Neuropathological examination of CS patients reveals dysmyelination and basal ganglia calcification. In addition, arteriosclerosis in the brain and subdural hemorrhage have been reported in a few CS cases. Herein, we performed elastica van Gieson (EVG) staining and immunohistochemistry for collagen type IV, CD34 and aquaporin 4 to evaluate the brain vessels in autopsy cases of CS, XP group A (XP-A) and controls. Small arteries without arteriosclerosis in the subarachnoid space had increased in CS cases but not in either XP-A cases or controls. In addition, string vessels (twisted capillaries) in the cerebral white matter and increased density of CD34-immunoreactive vessels were observed in CS cases. Immunohistochemistry findings for aquaporin 4 indicated no pathological changes in either CS or XP-A cases. Hence, the increased subarachnoid artery space may have caused subdural hemorrhage. Since such vascular changes were not observed in XP-A cases, the increased density of vessels in CS cases was not caused by brain atrophy. Hence, brain vascular changes may be involved in neurological disturbances in CS. © 2011 Japanese Society of Neuropathology.

  13. Antisense oligonucleotide induction of progerin in human myogenic cells.

    Directory of Open Access Journals (Sweden)

    Yue-Bei Luo

    Full Text Available We sought to use splice-switching antisense oligonucleotides to produce a model of accelerated ageing by enhancing expression of progerin, translated from a mis-spliced lamin A gene (LMNA transcript in human myogenic cells. The progerin transcript (LMNA Δ150 lacks the last 150 bases of exon 11, and is translated into a truncated protein associated with the severe premature ageing disease, Hutchinson-Gilford progeria syndrome (HGPS. HGPS arises from de novo mutations that activate a cryptic splice site in exon 11 of LMNA and result in progerin accumulation in tissues of mesodermal origin. Progerin has also been proposed to play a role in the 'natural' ageing process in tissues. We sought to test this hypothesis by producing a model of accelerated muscle ageing in human myogenic cells. A panel of splice-switching antisense oligonucleotides were designed to anneal across exon 11 of the LMNA pre-mRNA, and these compounds were transfected into primary human myogenic cells. RT-PCR showed that the majority of oligonucleotides were able to modify LMNA transcript processing. Oligonucleotides that annealed within the 150 base region of exon 11 that is missing in the progerin transcript, as well as those that targeted the normal exon 11 donor site induced the LMNA Δ150 transcript, but most oligonucleotides also generated variable levels of LMNA transcript missing the entire exon 11. Upon evaluation of different oligomer chemistries, the morpholino phosphorodiamidate oligonucleotides were found to be more efficient than the equivalent sequences prepared as oligonucleotides with 2'-O-methyl modified bases on a phosphorothioate backbone. The morpholino oligonucleotides induced nuclear localised progerin, demonstrated by immunostaining, and morphological nuclear changes typical of HGPS cells. We show that it is possible to induce progerin expression in myogenic cells using splice-switching oligonucleotides to redirect splicing of LMNA. This may offer a model

  14. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... called exogenous Cushing syndrome . Prednisone, dexamethasone, ...

  15. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  16. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  17. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ...

  18. A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Damien Galant

    2016-04-01

    Full Text Available ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD, Progeria or Mandibulo-Acral Dysplasia (MAD. We report here the phenotype of a patient referred for severe metabolic syndrome and cardiomyopathy, carrying a mutation in ZMPSTE24. The patient presented with a partial lipodystrophic syndrome associating hypertriglyceridemia, early onset type 2 diabetes, and android obesity with truncal and abdominal fat accumulation but without subcutaneous lipoatrophy. Other clinical features included acanthosis nigricans, liver steatosis, dilated cardiomyopathy, and high myocardial and hepatic triglycerides content. Mutated fibroblasts from the patient showed increased nuclear shape abnormalities and premature senescence as demonstrated by a decreased Population Doubling Level, an increased beta-galactosidase activity and a decreased BrdU incorporation rate. Reduced prelamin A expression by siRNA targeted toward LMNA transcripts resulted in decreased nuclear anomalies. We show here that a central obesity without subcutaneous lipoatrophy is associated with a laminopathy due to a heterozygous missense mutation in ZMPSTE24. Given the high prevalence of metabolic syndrome and android obesity in the general population, and in the absence of familial study, the causative link between mutation and phenotype cannot be formally established. Nevertheless, altered lamina architecture observed in mutated fibroblasts are responsible for premature cellular senescence and could contribute to the phenotype observed in this patient.

  19. A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.

    Science.gov (United States)

    Galant, Damien; Gaborit, Bénédicte; Desgrouas, Camille; Abdesselam, Ines; Bernard, Monique; Levy, Nicolas; Merono, Françoise; Coirault, Catherine; Roll, Patrice; Lagarde, Arnaud; Bonello-Palot, Nathalie; Bourgeois, Patrice; Dutour, Anne; Badens, Catherine

    2016-04-25

    ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD). We report here the phenotype of a patient referred for severe metabolic syndrome and cardiomyopathy, carrying a mutation in ZMPSTE24. The patient presented with a partial lipodystrophic syndrome associating hypertriglyceridemia, early onset type 2 diabetes, and android obesity with truncal and abdominal fat accumulation but without subcutaneous lipoatrophy. Other clinical features included acanthosis nigricans, liver steatosis, dilated cardiomyopathy, and high myocardial and hepatic triglycerides content. Mutated fibroblasts from the patient showed increased nuclear shape abnormalities and premature senescence as demonstrated by a decreased Population Doubling Level, an increased beta-galactosidase activity and a decreased BrdU incorporation rate. Reduced prelamin A expression by siRNA targeted toward LMNA transcripts resulted in decreased nuclear anomalies. We show here that a central obesity without subcutaneous lipoatrophy is associated with a laminopathy due to a heterozygous missense mutation in ZMPSTE24. Given the high prevalence of metabolic syndrome and android obesity in the general population, and in the absence of familial study, the causative link between mutation and phenotype cannot be formally established. Nevertheless, altered lamina architecture observed in mutated fibroblasts are responsible for premature cellular senescence and could contribute to the phenotype observed in this patient.

  20. Williams syndrome

    Science.gov (United States)

    A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams Syndrome: Williams Syndrome Association -- www.williams-syndrome.org

  1. WIEDEMANN SYNDROME

    African Journals Online (AJOL)

    hi-tech

    BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...

  2. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  3. Brown Syndrome

    Science.gov (United States)

    ... extraction) have also been linked to acquired Brown syndrome. Inflammation of the tendon-trochlea complex (from adult and juvenile rheumatoid arthritis, systemic lupus erythematosus and sinusitis) can be ... syndrome hereditary? Hereditary cases of Brown syndrome are rare. ...

  4. Asperger Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Asperger Syndrome Information Page Asperger Syndrome Information Page What research is being done? ... Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Asperger syndrome (AS) is a developmental disorder. It is ...

  5. Cockayne syndrome: Clinical features, model systems and pathways.

    Science.gov (United States)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne; Croteau, Deborah L; Bohr, Vilhelm A

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been ascribed to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility for molecular interventions in CS, and by extrapolation, possibly in aging. Published by Elsevier B.V.

  6. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  7. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  8. Mitotic defects lead to pervasive aneuploidy and accompany loss of RB1 activity in mouse LmnaDhe dermal fibroblasts.

    Directory of Open Access Journals (Sweden)

    C Herbert Pratt

    2011-03-01

    Full Text Available Lamin A (LMNA is a component of the nuclear lamina and is mutated in several human diseases, including Emery-Dreifuss muscular dystrophy (EDMD; OMIM ID# 181350 and the premature aging syndrome Hutchinson-Gilford progeria syndrome (HGPS; OMIM ID# 176670. Cells from progeria patients exhibit cell cycle defects in both interphase and mitosis. Mouse models with loss of LMNA function have reduced Retinoblastoma protein (RB1 activity, leading to aberrant cell cycle control in interphase, but how mitosis is affected by LMNA is not well understood.We examined the cell cycle and structural phenotypes of cells from mice with the Lmna allele, Disheveled hair and ears (Lmna(Dhe. We found that dermal fibroblasts from heterozygous Lmna(Dhe (Lmna(Dhe/+ mice exhibit many phenotypes of human laminopathy cells. These include severe perturbations to the nuclear shape and lamina, increased DNA damage, and slow growth rates due to mitotic delay. Interestingly, Lmna(Dhe/+ fibroblasts also had reduced levels of hypophosphorylated RB1 and the non-SMC condensin II-subunit D3 (NCAP-D3, a mitosis specific centromere condensin subunit that depends on RB1 activity. Mitotic check point control by mitotic arrest deficient-like 1 (MAD2L1 also was perturbed in Lmna(Dhe/+ cells. Lmna(Dhe/+ fibroblasts were consistently aneuploid and had higher levels of micronuclei and anaphase bridges than normal fibroblasts, consistent with chromosome segregation defects.These data indicate that RB1 may be a key regulator of cellular phenotype in laminopathy-related cells, and suggest that the effects of LMNA on RB1 include both interphase and mitotic cell cycle control.

  9. Dumping Syndrome

    Science.gov (United States)

    ... Intestinal Pseudo-obstruction Irritable Bowel Syndrome (IBS) Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Irritable Bowel Syndrome (IBS) in Children Lactose Intolerance Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the ...

  10. Piriformis syndrome

    Science.gov (United States)

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  11. Alagille Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  12. Reye Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  13. Zellweger Syndrome

    Science.gov (United States)

    ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ...

  14. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Criton S

    1995-01-01

    Full Text Available Proteus syndrome is a hamartomatous disorder characterised by focal overgrowths that can involve any structure of the body. An eleven-year-old girl with Proteus syndrome has been described with clitoromegaly.

  15. Overlap syndromes

    NARCIS (Netherlands)

    Beuers, Ulrich; Rust, Christian

    2005-01-01

    In hepatology, the term overlap syndrome describes variant forms of the major hepatobiliary autoimmune diseases, autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC). Patients with overlap syndromes present with both hepatitic and cholestatic

  16. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  17. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  18. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  19. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  20. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  1. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  2. Alport Syndrome

    Science.gov (United States)

    ... body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes. Other signs and ... and inherited type of Alport syndrome. For example, hearing and vision problems tend to be more common in males than ...

  3. Moebius Syndrome

    Science.gov (United States)

    ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ...

  4. Heart and Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  5. Down Syndrome: Education

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  6. Dental Issues & Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  7. Down Syndrome: Education

    Science.gov (United States)

    ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Preferred Language Guide Down Syndrome Facts Down ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Down Syndrome Facts Preferred Language Guide Publications ...

  8. Facts About Usher Syndrome

    Science.gov (United States)

    ... Usher Syndrome > Facts About Usher Syndrome Facts About Usher Syndrome This information was developed by the National Eye ... is the best person to answer specific questions. Usher Syndrome Defined What is Usher syndrome? Usher syndrome is ...

  9. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  10. [Capgras syndrome].

    Science.gov (United States)

    Alcoverro Fortuny, O; Sierra Acín, A C

    2001-01-01

    The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).

  11. Metabolic Syndrome

    Science.gov (United States)

    ... much saturated fat, and does not get enough physical activity may develop metabolic syndrome. Other causes include insulin resistance and a family ... you’re overweight. It also includes getting more physical activity and eating a ... syndrome treatment If you already have metabolic syndrome, making ...

  12. Goodpasture Syndrome

    Science.gov (United States)

    ... necessary. Eating, Diet, and Nutrition Eating, diet, and nutrition have not been shown to play a role in causing or preventing Goodpasture syndrome. Points to Remember Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses ...

  13. [Reye's syndrome].

    Science.gov (United States)

    Yoshida, I

    2000-11-01

    A nationwide survey on Reye's syndrome(RS) was described. And problems between RS and influenza virus such as etiology, pathophysiology, differential diagnosis and epidemiology were reviewed. So-called aspirin issue on RS was re-evaluated according to recent advance of RS research. Finally future aspect of Reye's syndrome was also discussed.

  14. Reye's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Reye's Syndrome Information Page Reye's Syndrome Information Page What research is being done? Much ... Information from the National Library of Medicine’s MedlinePlus Reye's Syndrome × What research is being done? Much of the ...

  15. [Cardiorenal syndrome].

    Science.gov (United States)

    Salleck, D; John, S

    2017-09-13

    Patients in the intensive care unit often suffer from cardiorenal syndrome, which can have an important influence on the patient's outcome. The heart and kidney influence each other via organ crosstalk. We screened and evaluated current publications on cardiorenal syndromes and their therapy. A key role in the management of cardiorenal syndromes is renal decongestion via loop diuretics.

  16. Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development.

    Science.gov (United States)

    McKenna, Tomás; Rosengardten, Ylva; Viceconte, Nikenza; Baek, Jean-Ha; Grochová, Diana; Eriksson, Maria

    2014-04-01

    Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) are two laminopathies caused by mutations leading to cellular accumulation of prelamin A or one of its truncated forms, progerin. One proposed mechanism for the more severe symptoms in patients with RD compared with HGPS is that higher levels of farnesylated lamin A are produced in RD. Here, we show evidence in support of that hypothesis. Overexpression of the most common progeroid lamin A mutation (LMNA c.1824C>T, p.G608G) during skin development results in a severe phenotype, characterized by dry scaly skin. At postnatal day 5 (PD5), progeroid animals showed a hyperplastic epidermis, disorganized sebaceous glands and an acute inflammatory dermal response, also involving the hypodermal fat layer. PD5 animals also showed an upregulation of multiple inflammatory response genes and an activated NF-kB target pathway. Careful analysis of the interfollicular epidermis showed aberrant expression of the lamin B receptor (LBR) in the suprabasal layer. Prolonged expression of LBR, in 14.06% of the cells, likely contributes to the observed arrest of skin development, clearly evident at PD4 when the skin had developed into single-layer epithelium in the wild-type animals while progeroid animals still had the multilayered appearance typical for skin at PD3. Suprabasal cells expressing LBR showed altered DNA distribution, suggesting the induction of gene expression changes. Despite the formation of a functional epidermal barrier and proven functionality of the gap junctions, progeroid animals displayed a greater rate of water loss as compared with wild-type littermates and died within the first two postnatal weeks. © 2014 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.

  17. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    Directory of Open Access Journals (Sweden)

    Mohan Makwana

    2017-04-01

    Full Text Available BACKGROUND Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. The primary idiopathic form “moyamoya disease” has been distinguished from an associated form of “moyamoya syndrome,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease, fibromuscular dysplasia, activated protein C resistance, or head trauma. There have been only 47 previous cases of moyamoya syndrome in association with Down syndrome reported in the world literature. Recently, we have come across a Case of Downs’ Syndrome with Moyamoya Syndrome. Because of its rarity we want to report our case.

  18. Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome.

    Directory of Open Access Journals (Sweden)

    Ingrid van der Pluijm

    2007-01-01

    Full Text Available Cockayne syndrome (CS is a photosensitive, DNA repair disorder associated with progeria that is caused by a defect in the transcription-coupled repair subpathway of nucleotide excision repair (NER. Here, complete inactivation of NER in Csb(m/m/Xpa(-/- mutants causes a phenotype that reliably mimics the human progeroid CS syndrome. Newborn Csb(m/m/Xpa(-/- mice display attenuated growth, progressive neurological dysfunction, retinal degeneration, cachexia, kyphosis, and die before weaning. Mouse liver transcriptome analysis and several physiological endpoints revealed systemic suppression of the growth hormone/insulin-like growth factor 1 (GH/IGF1 somatotroph axis and oxidative metabolism, increased antioxidant responses, and hypoglycemia together with hepatic glycogen and fat accumulation. Broad genome-wide parallels between Csb(m/m/Xpa(-/- and naturally aged mouse liver transcriptomes suggested that these changes are intrinsic to natural ageing and the DNA repair-deficient mice. Importantly, wild-type mice exposed to a low dose of chronic genotoxic stress recapitulated this response, thereby pointing to a novel link between genome instability and the age-related decline of the somatotroph axis.

  19. Overexpression of p53 but not Rb in the cytoplasm of neurons and small vessels in an autopsy of a patient with Cockayne syndrome.

    Science.gov (United States)

    Miyahara, Hiroaki; Itonaga, Tomoyo; Maeda, Tomoki; Izumi, Tatsuro; Ihara, Kenji

    2015-06-01

    Cockayne syndrome presents senescence-like changes starting in early infancy; however, the mechanism of premature aging remains unclear. In an autopsy of a 23-year-old woman with Cockayne syndrome, we evaluated the correlation between Cockayne pathology and the expression patterns of the senescence-associated proteins p53 and Rb. Neuropathological findings in this case revealed basal ganglia calcification, tigroid leukodystrophy, bizarre reactive astrocytes, severe cerebellar atrophy with loss of Purkinje cells, and arteriolar/neuronal calcifications in the hypothalamus. Multiple arteriolar calcifications and sclerotic changes were seen in the central nervous system and kidney, but the endothelium of the aorta and coronary arteries remained intact appropriately for the individual's age without any finding of arteriosclerosis. Overexpression of p53 protein was confirmed in the cytoplasm of neurons in the basal ganglia, thalamus, hypothalamus, hippocampus and cerebellum, of arteriolar endothelial cells of the cerebrum and renal glomerular capillaries, and of cutaneous epithelial cells. The distribution of p53 overexpression was coincident with that of pathological alteration, such as neuronal loss, calcification and atrophy. High expression of p53 was localized in the cytoplasm, not in the nucleus. In contrast to p53, Rb was not expressed in any senescence lesion. In terms of senescence, distinct differences are found among organs in a patient with Cockayne syndrome. This segmental progeria differs from natural aging, and implicates p53 overexpression in the etiology of CS. © 2014 Japanese Society of Neuropathology.

  20. METABOLIC SYNDROME

    OpenAIRE

    Dikanović, Marinko

    2015-01-01

    Metabolic syndrome is a cluster of disorders that include hyperlipidemia, inadequate insulin resistance, hypertension, and abdominal type obesity. Patients who suffer from this syndrome have an increased risk for heart disease and blood vessel disease, stroke and type II diabetes. The world's leading healthcare institutions also disagree on the exact definition of this organization poremećaja. NCEP (National Cholesterol Education Program) defines metabolic syndrome as a situation in which the...

  1. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  2. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  3. [Caroli's syndrome].

    Science.gov (United States)

    Li, Ji; Qiu, Zheng-Qing; Wei, Min

    2009-01-01

    Caroli's syndrome is a rare autosomal recessive hereditary disease. Here a case of Caroli's syndrome associated with medullary sponge kidney was reported. The patient was a 2-years and 10 months-old boy. He presented with hepatosplenomegaly. Fever, abdominal pain or jaundice was not found. The imaging examination showed intrahepatic bile duct dilation, splenomegaly, medullary sponge kidney and nephrocalcinosis. After introduction of the case, this paper reviewed the clinical characteristics, diagnosis and treatment of Caroli's syndrome.

  4. Troyer Syndrome

    Science.gov (United States)

    ... Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS Myotonia Congenita Information Page NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page Congenital ...

  5. [Cardiorenal syndromes].

    Science.gov (United States)

    Késöi, István; Sági, Balázs; Vas, Tibor; Pintér, Tünde; Kovács, Tibor; Wittmann, István; Nagy, Judit

    2011-09-18

    Cardiac and kidney diseases are very common, and increasingly coexist. Classification for cardiorenal syndrome and for its specific subtypes has been developed and published recently by a consensus group of the Acute Dialysis Quality Initiative. Cardiorenal syndromes have been classified according to whether the impairment of each organ is primary, secondary or whether heart and kidney dysfunction occurs simultaneously as a systemic disease. The different syndromes were classified into five subtypes. Type-1: acute cardiorenal syndrome: an abrupt worsening of cardiac function leading to acute kidney injury and/or dysfunction. Type-2: chronic cardiorenal syndrome: chronic abnormalities in cardiac function causing kidney injury and/or dysfunction. Type-3: acute renocardiac syndrome: abrupt worsening of kidney function leading to heart injury and/or dysfunction. Type-4: chronic renocardiac syndrome: chronic kidney diseases leading to heart injury, disease and/or dysfunction. Type-5: secondary cardiorenal syndrome: acute or chronic systemic diseases leading to simultaneous injury and/or dysfunction of heart and kidney. The identification of patients and the pathophysiological mechanisms underlying each syndrome subtype will help cardiologists, nephrologists and physicians working on intensive care units to characterize groups of their patients with cardiac and renal impairment and to provide a more accurate treatment for them.

  6. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  7. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  8. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  9. Treatment Options for Adult Soft Tissue Sarcoma

    Science.gov (United States)

    ... Li-Fraumeni syndrome . Werner syndrome (adult progeria). Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Other risk factors ... ray : An x-ray of the organs and bones inside the chest. An x-ray is a ...

  10. Treatment Option Overview (Adult Soft Tissue Sarcoma)

    Science.gov (United States)

    ... Li-Fraumeni syndrome . Werner syndrome (adult progeria). Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Other risk factors ... ray : An x-ray of the organs and bones inside the chest. An x-ray is a ...

  11. A Rare Syndrome: Balint Syndrome

    OpenAIRE

    Gülnur Tekgöl Uzuner; Özge Keleş; Nevzat Uzuner

    2016-01-01

    Balint’s syndrome is a rare disorder affecting the ability to perceive the visual field as a whole, most commonly following damage to the bilateral occipital and parietal regions. This syndrome has three components as simultanagnosia, optic ataxia, and oculomotor apraxia. Simultanagnosia play a key role in this syndrome. Sixty-two years old male patient who applied the blindness symptom has been evaluated in outpatient clinic. We observed that there are some deficits in perceive of visual fie...

  12. Cockayne syndrome.

    Science.gov (United States)

    Levinson, E D; Zimmerman, A W; Grunnet, M L; Lewis, R A; Spackman, T J

    1982-12-01

    The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which may be present on CT as early as 3 years of age.

  13. Ascher syndrome

    Directory of Open Access Journals (Sweden)

    Zhifang Zhai

    2015-03-01

    Full Text Available Ascher syndrome is a rare, benign skin disorder characterized by a double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. The exact cause is unknown, but it is considered to be a hereditary disease with an autosomal dominant trait. We report here a case of forme fruste Ascher syndrome in a 29-year-old man.

  14. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  15. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  16. Kounis syndrome

    African Journals Online (AJOL)

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or nonvasospastic angina secondary ... to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral ... a likely diagnosis and blood was sent for.

  17. Cardiorenal syndrome

    OpenAIRE

    Schetz, Miet

    2009-01-01

    Kidney dysfunction in patients with heart failure and cardiovascular disorders in patients with chronic kidney disease are common. A recently proposed consensus definition of cardiorenal syndrome stresses the bidirectional nature of these heart-kidney interactions. The treatment of cardiorenal syndrome is challenging, however, promising new therapeutic options are currently being investigated in recent and ongoing clinical trials.

  18. Tourette Syndrome

    Science.gov (United States)

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  19. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  20. Marshall's syndrome*

    Science.gov (United States)

    Fontenelle, Elisa; de Almeida, Ana Paula Moura; Souza, Gabriela Maria Assis de Almeida

    2013-01-01

    Marshall´s syndrome is a form of acquired cutis laxa without systemic involvement, which is preceded by an inflammatory dermatitis with a neutrophilic component. We report a case of a 6-year-old boy with clinical and histopathological features of this syndrome. The etiology remains unknown and there is no definitive treatment. PMID:23739715

  1. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. [CREST syndrome].

    Science.gov (United States)

    Meyer, Olivier

    2002-05-01

    CREST syndrome has been described as a form of progressive systemic sclerosis in which there is relatively limited involvement of the skin, prominence of calcinosis, Raynaud's phenomenon, esophageal dysfunction and telangiectasia. The acronym CREST was coined in 1964 by Winterbauer in the USA but the very first case report was by French physicians Thibierge and Weissenbach in 1910. Antinuclear antibodies recognizing chromosomal centromere proteins are characteristic of CREST syndrome and are present in more than 50% of the cases. The prognosis of CREST syndrome is relatively good with a long lasting disease duration (>10 years). Two complications are seldom associated with CREST syndrome: digital gangrene with finger losses and pulmonary hypertension (3 to 14% of CREST syndrome). Pulmonary hypertension is a very late event and the prognosis is very severe (mortality rate of 50% after 2 years).

  3. [Syndromic autism: II. Genetic syndromes associated with autism].

    Science.gov (United States)

    Artigas-Pallarés, J; Gabau-Vila, E; Guitart-Feliubadaló, M

    2005-01-15

    In this study we report on the different genetic syndromes in which autism has been described as one of the possible manifestations. Certain genetic syndromes are providing us with extremely valuable information about the role played by genetics in autism. This is the case of the following syndromes: Angelman syndrome, Prader-Willi syndrome, 15q11-q13 duplication, fragile X syndrome, fragile X premutation, deletion of chromosome 2q, XYY syndrome, Smith-Lemli-Opitz syndrome, Apert syndrome, mutations in the ARX gene, De Lange syndrome, Smith-Magenis syndrome, Williams syndrome, Rett syndrome, Noonan syndrome, Down syndrome, velo-cardio-facial syndrome, myotonic dystrophy, Steinert disease, tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert syndrome, Lujan-Fryns syndrome, Moebius syndrome, hypomelanosis of Ito, neurofibromatosis type 1, CHARGE syndrome and HEADD syndrome.

  4. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  5. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...... a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  6. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  7. Dynamics of lamin-A processing following precursor accumulation.

    Directory of Open Access Journals (Sweden)

    Qian Liu

    2010-05-01

    Full Text Available Lamin A (LaA is a component of the nuclear lamina, an intermediate filament meshwork that underlies the inner nuclear membrane (INM of the nuclear envelope (NE. Newly synthesized prelamin A (PreA undergoes extensive processing involving C-terminal farnesylation followed by proteolysis yielding non-farnesylated mature lamin A. Different inhibitors of these processing events are currently used therapeutically. Hutchinson-Gilford Progeria Syndrome (HGPS is most commonly caused by mutations leading to an accumulation of a farnesylated LaA isoform, prompting a clinical trial using farnesyltransferase inhibitors (FTI to reduce this modification. At therapeutic levels, HIV protease inhibitors (PI can unexpectedly inhibit the final processing step in PreA maturation. We have examined the dynamics of LaA processing and associated cellular effects during PI or FTI treatment and following inhibitor washout. While PI reversibility was rapid, with respect to both LaA maturation and associated cellular phenotype, recovery from FTI treatment was more gradual. FTI reversibility is influenced by both cell type and rate of proliferation. These results suggest a less static lamin network than has previously been observed.

  8. Promotion of tumor development in prostate cancer by progerin

    Directory of Open Access Journals (Sweden)

    Nie Daotai

    2010-11-01

    Full Text Available Abstract Progerin is a truncated form of lamin A. It is identified in patients with Hutchinson-Gilford progeria syndrome (HGPS, a disease characterized by accelerated aging. The contribution of progerin toward aging has been shown to be related to increased DNA damages. Since aging is one major risk factor for carcinogenesis, and genomic instability is a hallmark of malignant cancers, we investigated the expression of progerin in human cancer cells, and whether its expression contributes to carcinogenesis. Using RT-PCR and Western blotting, we detected the expression of progerin in prostate PC-3, DU145 and LNCaP cells at mRNA and protein levels. Ectopic progerin expression did not cause cellular senescence in PC-3 or MCF7 cells. PC-3 cells progerin transfectants were sensitized to DNA damage agent camptothecin (CPT; and persistent DNA damage responses were observed, which might be caused by progerin induced defective DNA damage repair. In addition, progerin transfectants were more tumorigenic in vivo than vector control cells. Our study for the first time describes the expression of progerin in a number of human cancer cell lines and its contributory role in tumorigenesis.

  9. TRF2 and lamin A/C interact to facilitate the functional organization of chromosome ends.

    Science.gov (United States)

    Wood, Ashley M; Rendtlew Danielsen, Jannie M; Lucas, Catherine A; Rice, Ellen L; Scalzo, David; Shimi, Takeshi; Goldman, Robert D; Smith, Erica D; Le Beau, Michelle M; Kosak, Steven T

    2014-11-17

    Telomeres protect the ends of linear genomes, and the gradual loss of telomeres is associated with cellular ageing. Telomere protection involves the insertion of the 3' overhang facilitated by telomere repeat-binding factor 2 (TRF2) into telomeric DNA, forming t-loops. We present evidence suggesting that t-loops can also form at interstitial telomeric sequences in a TRF2-dependent manner, forming an interstitial t-loop (ITL). We demonstrate that TRF2 association with interstitial telomeric sequences is stabilized by co-localization with A-type lamins (lamin A/C). We also find that lamin A/C interacts with TRF2 and that reduction in levels of lamin A/C or mutations in LMNA that cause an autosomal dominant premature ageing disorder--Hutchinson Gilford Progeria Syndrome (HGPS)-lead to reduced ITL formation and telomere loss. We propose that cellular and organismal ageing are intertwined through the effects of the interaction between TRF2 and lamin A/C on chromosome structure.

  10. Moebius syndrome.

    OpenAIRE

    J Gordon Millichap

    1990-01-01

    Brain stem calcification on CT scan, suggesting prenatal brain stem ischemia, is reported in an infant with Moebius syndrome examined in the Department of Pediatrics and Neonatal Medicine, State University of Gent, Gent, Belgium.

  11. Sjogren's Syndrome

    Science.gov (United States)

    ... the set located behind your jaw and in front of your ears Skin rashes or dry skin Vaginal dryness Persistent dry cough Prolonged fatigue Causes Sjogren's syndrome is an autoimmune disorder. Your immune system mistakenly ...

  12. Fahr's Syndrome

    Science.gov (United States)

    ... from the National Library of Medicine’s MedlinePlus Genetic Brain Disorders Show More Show Less ... Definition Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of ...

  13. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  14. [Heptopulmonary syndrome].

    Science.gov (United States)

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. Copyright © 2015 Elsevier España, S.L.U. and AEEH y AEG. All rights reserved.

  15. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a ... medicine to treat an inflammatory disease leads to Cushing's. Some kinds of tumors produce a hormone that ...

  16. Gerstmann's Syndrome

    Science.gov (United States)

    ... drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder. × Definition Gerstmann's syndrome is a cognitive impairment that results ...

  17. Paraneoplastic Syndromes

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Paraneoplastic Syndromes Information ...

  18. Antiphospholipid Syndrome

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Antiphospholipid Syndrome Information ...

  19. Cushing's Syndrome

    Science.gov (United States)

    ... hormone. People suffering from depression, alcoholism, malnutrition, or panic disorders also have increased cortisol levels. When the ... five times more often than men. Ectopic ACTH Syndrome Some benign or, more often, cancerous tumors that ...

  20. Reye's Syndrome

    Science.gov (United States)

    ... vomiting Diarrhea Reye's syndrome Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  1. Ohtahara Syndrome

    Science.gov (United States)

    ... a focal brain lesion (damage contained to one area of the brain) surgery may be beneficial. Other therapies are ... Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page ...

  2. Noonan syndrome

    Science.gov (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  3. Klinefelter syndrome

    Science.gov (United States)

    Infertility is the most common symptom of Klinefelter syndrome. Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts ( gynecomastia ) ...

  4. Angelman syndrome

    Science.gov (United States)

    ... the gene Other tests may include: Brain MRI EEG Treatment There is no cure for Angelman syndrome. ... nih.gov/pubmed/20301323 . Accessed August 1, 2015. Review Date 8/1/2015 Updated by: Chad Haldeman- ...

  5. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  6. Down Syndrome

    Science.gov (United States)

    ... programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development

  7. Brugada Syndrome

    Science.gov (United States)

    ... history of survived sudden cardiac arrest Because of the nature of the heart rhythm abnormality, medications usually aren’t used to treat Brugada syndrome. A medical device called an implantable cardioverter-defibrillator is the ...

  8. Marfan Syndrome

    Science.gov (United States)

    ... whether you have Marfan syndrome. Medical and Family Histories Your doctor will ask about your medical history ... and football. You also may need to avoid sports that involve physical contact with other players or ...

  9. Down syndrome

    Science.gov (United States)

    ... that may cause problems with chewing Underactive thyroid ( hypothyroidism ) Exams and Tests A doctor can often make ... those with Down syndrome to: Be taught about pregnancy and taking the proper precautions Learn to advocate ...

  10. Turner Syndrome

    Science.gov (United States)

    ... have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease. Skeletal ...

  11. Marfan syndrome

    Science.gov (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  12. Horner syndrome

    Science.gov (United States)

    ... whether treatment of the cause is successful. Possible Complications There are no direct complications of Horner syndrome ... Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice . 7th ed. Philadelphia, PA: Elsevier; ...

  13. Dravet Syndrome

    Science.gov (United States)

    ... NINDS Focus on Research Alzheimer's & Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord ... basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects ...

  14. Tourette Syndrome

    Science.gov (United States)

    ... Barré Syndrome Information Page Headache Information Page Hemicrania Continua Information Page Hemifacial Spasm Information Page Hereditary Spastic ... the Spotlight Find NINDS Clinical Trials Patient & Caregiver Education Fact Sheets Hope Through Research Know Your Brain ...

  15. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  16. Goldenhar Syndrom

    Directory of Open Access Journals (Sweden)

    fariba Tarhani

    2012-03-01

    Conclusion: Goldenhar Syndrome is a congenital abnormally which manly affects face, but another organs involvement should be considered .Cardiac problems are the main causes of death in these patients.

  17. Cockayne Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma Nand Lal

    2003-01-01

    Full Text Available Cockayne syndrome is a rare autosomal recessive disease of complex clinical phenotype that usually presents in early childhood. Characteristically the child presents with delayed milestones, growth and mental retardation associated with typical facies, photosensitivity, retinitis pigmentosa, deafness and ataxia. The various features are attributed to abnormal transcription rather than abnormal repair of photodamaged DNA. Based on clinical criteria a classical case of Cockayne syndrome in a 7 year old girl is described.

  18. Reye's Syndrome

    OpenAIRE

    Malcolmson, C.H.

    1987-01-01

    The author defines and discusses Reye's syndrome and the hypotheses relating to its causes and associating its incidence with that of chickenpox and influenza A and B. The recent decline in the incidence of Reye's syndrome appears to be related to the reduced use of Aspirin in children and adolescents. Although evidence so far is circumstantial, North American P(a)ediatric Associations have indicated that Aspirin should not be used to control fever in children who have viral infections but es...

  19. Binder syndrome.

    Science.gov (United States)

    Chummun, Shaheel; McLean, N R; Nugent, M; Anderson, P J; David, David J

    2012-07-01

    Patients with chondrodysplasia punctata (CDP) usually present with Binder-type features, and often CDP is misdiagnosed as Binder syndrome. This study reviewed the management and outcome of patients with Binder syndrome and CDP in a multidisciplinary setting. The notes and radiographs of the patients managed at the Australian Craniofacial Unit with a multidisciplinary setting since 1976 were reviewed, and data were collected on patient demographics, associated medical and surgical problems, subsequent management, and complications. Seventy-seven patients were treated over the 30-year period (5 patients were lost to follow-up); of the remaining 72 patients, 60 (83%) had Binder syndrome, and 12 (17%) were patients with CDP. Forty were males, and 32 were females, with an age range of 6 months to 47 years. Thirteen patients (18%) had a strong family history, and 65 patients (90%) have so far undergone surgical correction, and of those, 35 (54%) have completed their treatment, the longest follow-up time being 18 years. The mean number of surgical procedures was 2.4, and 18 patients (28%) had postoperative complications, which included partial necrosis of the maxilla, osteomyelitis of the mandible, facial nerve and inferior alveolar nerve neuropraxia, nasal bone graft exposure, and cellulitis. Because of the phenotypic characteristics shared by both Binder syndrome and CDP, it is most likely that Binder syndrome is not a syndrome, nor is it an entity, but most likely to be an "association." We would advocate that these patients should be managed in a multidisciplinary setting.

  20. What Is Down Syndrome?

    Science.gov (United States)

    ... the Likelihood of Having a Child with Down Syndrome? Down syndrome occurs in people of all races and ... care and treatment of babies born with Down syndrome. Does Down Syndrome Run in Families? All 3 types of ...

  1. Proteus Syndrome Foundation

    Science.gov (United States)

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation CLICK HERE to watch Dr. Leslie ... 1 Trial with ARQ 092 in Proteus Syndrome Proteus Syndrome Patient Registry The Proteus Syndrome Foundation Contact ...

  2. Obesity Hypoventilation Syndrome

    Science.gov (United States)

    ... Home / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...

  3. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Needs a Kidney Transplant Vision Facts and Myths Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome Print A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  4. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Research Home / Metabolic Syndrome Metabolic Syndrome What Is Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  5. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

  6. Rett Syndrome Fact Sheet

    Science.gov (United States)

    ... can I get more information? What is Rett syndrome? Rett syndrome is a neurodevelopmenal disorder that affects girls ... as “asymptomatic female carriers.” top Who gets Rett syndrome? Rett syndrome is estimated to affect one in every ...

  7. Rett Syndrome: Overview

    Science.gov (United States)

    ... Syndrome Share Facebook Twitter Pinterest Email Print Rett Syndrome Rett syndrome is a neurological and developmental genetic disorder ... ultimately reverse the disorder's effects. Common Names Rett syndrome Rett disorder RTT Medical or Scientific Names Autism-dementia- ...

  8. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Skating Living With Stepparents Be a Green Kid Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  9. A Rare Syndrome: Balint Syndrome

    Directory of Open Access Journals (Sweden)

    Gülnur Tekgöl Uzuner

    2016-04-01

    Full Text Available Balint’s syndrome is a rare disorder affecting the ability to perceive the visual field as a whole, most commonly following damage to the bilateral occipital and parietal regions. This syndrome has three components as simultanagnosia, optic ataxia, and oculomotor apraxia. Simultanagnosia play a key role in this syndrome. Sixty-two years old male patient who applied the blindness symptom has been evaluated in outpatient clinic. We observed that there are some deficits in perceive of visual field rather than blindness in neurologic examination of the patient. He had simultanagnosia, optic ataxia and oculomotor apraxia. There are multiple infarcts in bilaterally occipital and parietal regions in the patient’s cerebral MRI. In this case, we have present a rare disorder of the Balint’s syndrome.

  10. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    National Research Council Canada - National Science Library

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms...

  11. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  12. Nevoid basal cell carcinoma syndrome

    Science.gov (United States)

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...

  13. Refeeding syndrome.

    Science.gov (United States)

    Tripathy, Swagata; Mishra, Padmini; Dash, S C

    2008-07-01

    We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  14. CLOVES syndrome.

    Science.gov (United States)

    Bloom, Jacob; Upton, Joseph

    2013-12-01

    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes. Copyright © 2013 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  15. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  16. Usher Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Fakin

    2012-06-01

    Full Text Available Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss. All patients develop retinitis pigmentosa with night vision difficulties and constriction of visual field, and ultimately a decline in visual acuity and color vision. Future holds promise for gene therapy. We present a patient with typical clinical picture of Usher syndrome, who started noticing night vision problems at age 13. At age 25 he was operated on for posterior cortical cataracts. At age 34 he has only 5–10° of visual field remaining with 1.0 visual acuity in both eyes. Fundus autofluorescence imaging revealed a typical hyperautofluorescent ring on the border between normal and affected retina.

  17. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  18. Cardiorenal syndromes

    Science.gov (United States)

    McCullough, Peter A; Ahmad, Aftab

    2011-01-01

    Cardiorenal syndromes (CRS) have been subclassified as five defined entities which represent clinical circumstances in which both the heart and the kidney are involved in a bidirectional injury and dysfunction via a final common pathway of cell-to-cell death and accelerated apoptosis mediated by oxidative stress. Types 1 and 2 involve acute and chronic cardiovascular disease (CVD) scenarios leading to acute kidney injury or accelerated chronic kidney disease. Types 2 and 3 describe acute and chronic kidney disease leading primarily to heart failure, although it is possible that acute coronary syndromes, stroke, and arrhythmias could be CVD outcomes in these forms of CRS. Finally, CRS type 5 describes a simultaneous insult to both heart and kidneys, such as sepsis, where both organs are injured simultaneously. Both blood and urine biomarkers are reviewed in this paper and offer a considerable opportunity to enhance the understanding of the pathophysiology and known epidemiology of these recently defined syndromes. PMID:21286212

  19. Dressler Syndrome

    Directory of Open Access Journals (Sweden)

    Erkan Ceylan

    2016-02-01

    Full Text Available Dressler Syndrome (DS is a febrile illness secondary to an inflammatory reaction involving the pleura and pericardium. It is more common in patients who have undergone surgery that involves opening the pericardium. However, DS has also been described following myocardial infarction and as an unusual complication after percutaneous procedures such as coronary stent implantation, after implantation of epicardial pacemaker leads and transvenous pacemaker leads, and following blunt trauma, stab wounds, and heart puncture. Pericardial effusions often accompany the syndrome and may develop into early or late postoperative cardiac tamponade and even recurrent cardiac tamponade. The syndrome is also characterized by pericardial or pleuritic pain, pleural effusions, pneumonitis, and abnormal ECG and radiography findings.

  20. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  1. Larsen syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Mahbubul Islam

    2016-08-01

    Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

  2. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  3. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  4. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  5. [Terson syndrome].

    Science.gov (United States)

    Nowosielska, Agnieszka; Czarnecki, Wojciech

    2003-01-01

    The syndrome of intra-vitreous bleeding in association with subarachnoid haemorrhage (SAH) was first describe by French ophthalmologist Albert Terson in 1900. In last 10 years only a few cases were recorded. Early recognition of TS is of high importance, since diminution of visual acuity even to functional blindness, can hamper the rehabilitative process. The treatment methods are various, based on clinical manifestation. The surgical procedure of choice is the pars plana vitrectomy (PPV). The importance of being aware of the syndrome is very crucial, both in order to provide the adequate nursing care and to be able to perform early vitrectomy, to restore the visual function.

  6. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  7. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  8. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... older adults. The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, ...

  9. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J. C.; van Engelen, K.; Timmermans, J.; Hamel, B. C.; Mulder, B. J. M.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  10. Sotos syndrome

    OpenAIRE

    A Juneja; Sultan, A.

    2007-01-01

    Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications...

  11. Cowden syndrome.

    Science.gov (United States)

    Masmoudi, Abderrahmen; Chermi, Zied Mohamed; Marrekchi, Slaheddine; Raida, Ben Salah; Boudaya, Sonia; Mseddi, Madiha; Jalel, Meziou Taha; Turki, Hamida

    2011-03-26

    Cowden syndrome is a rare genodermatosis charactarized by presence of multiple hamartomas. The aim of the study was to specify the clinical, therapeutic and prognostic aspects of Cowden syndrome. Our study included 4 patients with Cowden syndrome, 2 males and 2 females between 14 and 46 years old. Clinical examination of the skin revealed facials papules (4 cases), acral keratosis (1 case), translucent keratotic papules (2 cases). Oral examination revealed papules (4 cases), papillomatosis (4 cases), gingival hypertrophy (4 cases) and scrotal tongue (2 cases). Investigations revealed thyroid lesions (2 cases), fibrocystic disease and lipoma of the breast in 1 case, "glycogenic acanthosis" (1 case), macrocephaly (2 cases), dysmorphic face (1 case) and lichen nitidus (1 case). Oral etretinate and acitretine were temporary efficient in 2 patients. Topical treatment with tretinoin lotion resulted in some improvement in cutaneous, but not mucosal lesions in one patient. No cancer was revealed. The pathognomonic mucocutaneous lesions were found in all patients. However, no degenerative lesions have been revealed. A new association of Cowden syndrome with lichen nitidus was found. Treatment with oral retinoids was efficient on cutaneous lesions.

  12. kartagener's syndrome

    African Journals Online (AJOL)

    GB

    upper and lower respiratory tract infections such as sinusitis, otitis media and bronchiectasis (6). Males are generally infertile because of immotile sperms (8). In rare cases, no structural cilliary abnormalities are detectable even though cilliary function is abnormal and the clinical syndrome is typical (9). Some males have ...

  13. Hunter's Syndrome

    African Journals Online (AJOL)

    CASE DETAILS: An eight year old patient with Hunter's syndrome identified five years after disease onset with severe cardiovascular complications exemplifies the challenges faced in resource-limited countries towards making diagnosis and treatment of rare conditions. Elevated urinary glycosaminoglycans levels or a ...

  14. Ortner syndrome

    African Journals Online (AJOL)

    2009-02-02

    Feb 2, 2009 ... Division of Otolaryngology, University of Cape Town. L J Zühlke, MB ChB, DCH, FCPaed, Cert in Paed Card. Department of Paediatric Cardiology, University of Cape Town and Red Cross Children's Hospital, Cape Town. 170 SAJCH DECEMBER 2008 VOL. 2 NO. 4. CASE REPORT. Ortner syndrome, or ...

  15. Kostmann Syndrome

    African Journals Online (AJOL)

    However, hematopoietic stem cell transplantation has shown promise in the treatment of non-responders. About 60-80% of. SCN cases are associated with constitutive mutations in one copy of the gene encoding neutrophil elastase ELA2. Myelodysplastic syndrome and acute myeloid leukemia. (MDS/AML) have been ...

  16. Bloom syndrome.

    Science.gov (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

    2014-07-01

    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia. © 2014 The International Society of Dermatology.

  17. Gorlin syndrome

    African Journals Online (AJOL)

    these patients are hypersensitive to radiation and prone to develop multiple malignancies. Patients can ... maxillofacial surgeons, radiation oncologists and dermatologists, and it will be to the benefit of the patient with this syndrome for these specialists ... grandmother had been diagnosed with breast cancer, and there was.

  18. Hunter syndrome

    African Journals Online (AJOL)

    dermatan et sulfate d'heparin. L'accumulation de l'intra et extracellulaire de ce matieres provoquent un organe multisystémique anormal. Nous présentons un patient atteint du syndrome de chasseur impliquant 1a peau systeme cardiovasculaire, des yeux et systeme musculosquelettique. Nous avons aussi écrit le compte ...

  19. Pendred Syndrome

    Science.gov (United States)

    ... an audiologist , an endocrinologist , a clinical geneticist , a genetic counselor , an otolaryngologist , and a speech-language pathologist . To reduce the likelihood of hearing loss progression, children and adults with Pendred syndrome should avoid contact sports that might lead to head injury; wear head ...

  20. Goldenhar syndrome

    African Journals Online (AJOL)

    operational on the derivatives of the first and second bran- chial arches and clefts before the end of the organogenetic period (7'h or 8'h week of embryonic life)? ..... Marshman WE, Schalit G, Jones RB, Lee JP, Mathews TD and McCabe S: Congenital anomalies in patients with Duane retraction syndrome and their relatives.

  1. Hunter's Syndrome

    African Journals Online (AJOL)

    hanumantp

    the two enzymes required to break down the sugar chains into proteins and ... Clinical presentation of mucopolysaccharidosis type II (Hunter's syndrome). He was born of ... He is the only child in a separated family and is currently staying with ...

  2. Ortner syndrome

    African Journals Online (AJOL)

    2009-02-02

    Feb 2, 2009 ... A 3-month-old baby girl was brought to the Ear, Nose and ... had died of cardiac failure at a very young age. ... on adduction, allowing for her good voice. Further follow- up and a cardiac ultrasound scan showed improved cardiac function. Discussion. Ortner first described this syndrome in 1897 after seeing ...

  3. Marfan Syndrome

    Science.gov (United States)

    ... lives. continue How Do Kids Get It? Marfan syndrome affects 1 in every 5,000 people all over the world. That makes it pretty rare. It's a genetic (say: juh-NEH-tik) disease, which means it is caused by a problem with a ...

  4. Postthrombotic Syndrome

    Science.gov (United States)

    ... ulcer. 2,12 Additional Resources Here are some Internet links that will give you more information about ... CrossRef PubMed ↵ Kahn SR, Ginsberg JS. Relationship between deep venous thrombosis and the postthrombotic syndrome. Arch Intern ...

  5. Hunter's Syndrome

    African Journals Online (AJOL)

    GB

    disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify ... case report. CASE DETAILS: An eight year old patient with Hunter's syndrome identified five years after disease onset with severe .... mitral valve prolapse with severe regurgitation, moderate ...

  6. Dressler's Syndrome

    Science.gov (United States)

    ... Medicine: Clinical Essentials. 2nd ed. Philadelphia, Pa.: Saunders Elsevier; 2013. http://www.clinicalkey.com. Accessed May 27, 2015. Imazio M, et al. Postpericardiotomy syndrome: A proposal for diagnostic criteria. Journal of Cardiovascular Medicine. 2013:14:351. Alraies MC, ...

  7. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G

    2009-01-01

    -to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato...

  8. Noonan syndrome.

    NARCIS (Netherlands)

    Burgt, I. van der

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set

  9. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  10. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  11. Kosenow syndrome

    African Journals Online (AJOL)

    spina bifida was also noted. MRI was performed and showed absence of osseous or cartilaginous tissue in the normal location of the ilium. Instead there was a soft-tissue structure, hypo-intense in all sequences, suggestive of fibrous tissue. Imaging features of a rare case of scapuloiliac dysostosis (Kosenow syndrome) in ...

  12. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  13. Waardenburg syndrome

    Science.gov (United States)

    Once hearing problems are corrected, most people with this syndrome should be able to lead a normal life. Those with ... require part of large bowel to be removed Hearing loss Self-esteem problems, or other problems related to appearance Slight decreased ...

  14. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  15. Compartment syndromes

    Directory of Open Access Journals (Sweden)

    Aly Saber

    2014-01-01

    Full Text Available Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss. Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes. Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma. As the intracranial contents are confined within a rigid bony cage, any increase in volume within this compartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume. Limb compartment syndromes may present either in acute or chronic clinical forms. Intra-abdominal pressure can be measured by direct or indirect methods. While the direct methods are quite accurate, they are impractical and not feasible for routine practice. Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder. Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement. The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  16. Pendred syndrome.

    Science.gov (United States)

    Wémeau, Jean-Louis; Kopp, Peter

    2017-03-01

    Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin. Pendrin has affinity for chloride, iodide, and bicarbonate, among other anions. In the inner ear, pendrin functions as a chloride/bicarbonate exchanger that is essential for maintaining the composition and the potential of the endolymph. In the thyroid, pendrin is expressed at the apical membrane of thyroid cells facing the follicular lumen. Functional studies have demonstrated that pendrin can mediate iodide efflux in heterologous cells. This, together with the thyroid phenotype observed in humans (goiter, impaired iodine organification) suggests that pendrin could be involved in iodide efflux into the lumen, one of the steps required for thyroid hormone synthesis. Iodide efflux can, however, also occur in the absence of pendrin suggesting that other exchangers or channels are involved. It has been suggested that Anoctamin 1 (ANO1/TMEM16A), a calcium-activated anion channel, which is also expressed at the apical membrane of thyrocytes, could participate in mediating apical efflux. In the kidney, pendrin is involved in bicarbonate secretion and chloride reabsorption. While there is no renal phenotype under basal conditions, severe metabolic alkalosis has been reported in Pendred syndrome patients exposed to an increased alkali load. This review provides an overview on the clinical spectrum of Pendred syndrome, the functional data on pendrin with a focus on its potential role in

  17. ADHD & Down Syndrome

    Science.gov (United States)

    ... Home » Resources » Health Care » Associated Conditions » ADHD & Down Syndrome ADHD & Down Syndrome Attention deficit hyperactivity disorder, or ADHD, is ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  18. The Source for Syndromes.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  19. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  20. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  1. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart......, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...... strong insights into the link between mitochondrial dysfunction and the production of reactive oxygen species (ROS). An important tool has been the generation of BTHS-specific induced pluripotent stem cells (iPSCs) from BTHS patients. In a complementary approach, disease-specific mutations have been...

  2. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  3. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  4. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  5. Asperger Syndrome

    OpenAIRE

    Friedlander, Robin

    2002-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  6. [Cockayne syndrome].

    Science.gov (United States)

    Wang, Xue-Mei; Cui, Yun-Pu; Liu, Yun-Feng; Wei, Ling; Liu, Hui; Wang, Xin-Li; Zheng, Zhuo-Zhao

    2011-02-01

    Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken eyes, sharp nose, sharp mandible, big auricle and dental caries and tooth loss. Crura spasticity and ataxia with excessive tendon reflexion, and ankle movement limitation while bending back were observed. He had slured speech. The level of serum insulin like growth factor I was low, and the results of blood and urinary amino acid analysis suggested malnutrition. The results of blood growth hormone, thyroxin, parathyroxin, liver function, renal function, lipoprotein profile and blood glucose and electrolytes were all within normal limit. An electronic hearing examination showed moderate neural hearing loss. The sonogram of eyes revealed small eye axis and vitreous body opacity of right side. MRI of brain revealed bilateral calcification of basal ganglia and generalized cerebral and cerebellar atrophy, and brainstem and callus were also atrophic. Genetic analysis confirmed with CSA gene mutation. So the boy was definitely diagnosed with Cockayne syndrome. He was discharged because of no effective treatment.

  7. SUSAC SYNDROME.

    Science.gov (United States)

    Patel, Kevin H; Haug, Sara J; Imes, Richard K; Cunningham, Emmett T; McDonald, H Richard

    2015-01-01

    To describe an atypical presentation of Susac syndrome. Observational case report. A 44-year-old man with no significant medical history presented with inferonasal visual field loss in his left eye of several months of duration. He was found to have bilateral migratory arteritis with focal areas of arteriolar occlusion in both eyes and peripheral ischemia superotemporally in his left eye. An extensive hematologic workup was negative for autoimmune disease or coagulopathy. Magnetic resonance imaging with contrast of his brain revealed a hyperintense lesion in the splenium of the corpus callosum. Auditory testing was significant for nonspecific high-frequency hearing loss in the right ear. Given the full clinical picture, a diagnosis of Susac syndrome was made. Susac syndrome is a multisystemic, immune-mediated occlusive endotheliopathy characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. However, patients may present with varying degrees of this triad; thus, there should be a high index of suspicion in patients presenting with multiple artery occlusions or multifocal arteritis. (C) 2015 by Ophthalmic Communications Society, Inc.

  8. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50

  9. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2012-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome.

  10. Crush syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lovallo

    2012-09-01

    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  11. Lambert-Eaton syndrome

    Science.gov (United States)

    Myasthenic syndrome; Eaton-Lambert syndrome; Lambert-Eaton myasthenic syndrome; LEMS; LES ... get up from a sitting or lying position Problems talking Problems chewing or swallowing, which may include ...

  12. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain ...

  13. Tourette Syndrome (For Parents)

    Science.gov (United States)

    ... to the Gynecologist? Blood Test: Thyroid Peroxidase Antibodies Tourette Syndrome KidsHealth > For Parents > Tourette Syndrome Print A ... have their tics continue into adulthood. Dealing With Tourette Syndrome Many people don't understand what Tourette ...

  14. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... reduce the risk of fractures if you develop osteoporosis. Taking medicine to decrease the amount of glucocorticoid ...

  15. Miller Fisher Syndrome

    Science.gov (United States)

    ... de Guillain-Barré Guillain-Barré Syndrome Information Page Guillain-Barre Syndrome information sheet compiled by NINDS. See all related publications Order NINDS Publications Definition Miller Fisher syndrome is a rare, acquired nerve ...

  16. Toxic shock syndrome

    Science.gov (United States)

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  17. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... after that. Some infants with severe respiratory distress syndrome will die. This most often occurs between days ...

  18. Central Cord Syndrome

    Science.gov (United States)

    ... You are here Home » Disorders » All Disorders Central Cord Syndrome Information Page Central Cord Syndrome Information Page What research is being done? Our understanding of central cord syndrome has increased greatly in recent decades as ...

  19. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Rett syndrome? Most cases of Rett syndrome are caused by ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  20. National Down Syndrome Society

    Science.gov (United States)

    ... leading human rights organization for all individuals with Down syndrome. Your browser does not support the video tag. ... leading human rights organization for all individuals with Down syndrome. Help us fix the law and end #LawSyndrome. ...

  1. Cushing Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Cushing Syndrome: Other FAQs Are there disorders or conditions associated with Cushing syndrome? Very rarely, a surgeon cannot remove all ...

  2. Neuroleptic Malignant Syndrome

    Science.gov (United States)

    ... Skeletal Syndrome (COFS) Information Page Charcot-Marie-Tooth Disease Information Page Chorea Information Page Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Information Page Coffin Lowry Syndrome Information ...

  3. Learning about WAGR Syndrome

    Science.gov (United States)

    ... especially during infancy and childhood. Seizure disorder (epilepsy). Inflammation of the pancreas (pancreatitis). Top of page How is WAGR syndrome diagnosed? Symptoms that suggest WAGR syndrome, like aniridia, ...

  4. An Abundant Evolutionarily Conserved CSB-PiggyBac Fusion Protein Expressed in Cockayne Syndrome

    Science.gov (United States)

    Newman, John C.; Bailey, Arnold D.; Fan, Hua-Ying; Pavelitz, Thomas; Weiner, Alan M.

    2008-01-01

    Cockayne syndrome (CS) is a devastating progeria most often caused by mutations in the CSB gene encoding a SWI/SNF family chromatin remodeling protein. Although all CSB mutations that cause CS are recessive, the complete absence of CSB protein does not cause CS. In addition, most CSB mutations are located beyond exon 5 and are thought to generate only C-terminally truncated protein fragments. We now show that a domesticated PiggyBac-like transposon PGBD3, residing within intron 5 of the CSB gene, functions as an alternative 3′ terminal exon. The alternatively spliced mRNA encodes a novel chimeric protein in which CSB exons 1–5 are joined in frame to the PiggyBac transposase. The resulting CSB-transposase fusion protein is as abundant as CSB protein itself in a variety of human cell lines, and continues to be expressed by primary CS cells in which functional CSB is lost due to mutations beyond exon 5. The CSB-transposase fusion protein has been highly conserved for at least 43 Myr since the divergence of humans and marmoset, and appears to be subject to selective pressure. The human genome contains over 600 nonautonomous PGBD3-related MER85 elements that were dispersed when the PGBD3 transposase was last active at least 37 Mya. Many of these MER85 elements are associated with genes which are involved in neuronal development, and are known to be regulated by CSB. We speculate that the CSB-transposase fusion protein has been conserved for host antitransposon defense, or to modulate gene regulation by MER85 elements, but may cause CS in the absence of functional CSB protein. PMID:18369450

  5. An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome.

    Directory of Open Access Journals (Sweden)

    John C Newman

    2008-03-01

    Full Text Available Cockayne syndrome (CS is a devastating progeria most often caused by mutations in the CSB gene encoding a SWI/SNF family chromatin remodeling protein. Although all CSB mutations that cause CS are recessive, the complete absence of CSB protein does not cause CS. In addition, most CSB mutations are located beyond exon 5 and are thought to generate only C-terminally truncated protein fragments. We now show that a domesticated PiggyBac-like transposon PGBD3, residing within intron 5 of the CSB gene, functions as an alternative 3' terminal exon. The alternatively spliced mRNA encodes a novel chimeric protein in which CSB exons 1-5 are joined in frame to the PiggyBac transposase. The resulting CSB-transposase fusion protein is as abundant as CSB protein itself in a variety of human cell lines, and continues to be expressed by primary CS cells in which functional CSB is lost due to mutations beyond exon 5. The CSB-transposase fusion protein has been highly conserved for at least 43 Myr since the divergence of humans and marmoset, and appears to be subject to selective pressure. The human genome contains over 600 nonautonomous PGBD3-related MER85 elements that were dispersed when the PGBD3 transposase was last active at least 37 Mya. Many of these MER85 elements are associated with genes which are involved in neuronal development, and are known to be regulated by CSB. We speculate that the CSB-transposase fusion protein has been conserved for host antitransposon defense, or to modulate gene regulation by MER85 elements, but may cause CS in the absence of functional CSB protein.

  6. Marfan syndrome

    Directory of Open Access Journals (Sweden)

    T Sivasankari

    2017-01-01

    Full Text Available Marfan syndrome (MFS is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the cardiovascular and pulmonary systems, and atypical bone overgrowth. Orofacial manifestations such as high-arched palate, hypodontia, long narrow teeth, bifid uvula, mandibular prognathism, and temporomandibular disorders are also common. Early diagnosis of MFS is essential to prevent the cardiovascular complications and treatment of orofacial manifestations, thus to increase the quality of life of the patient.

  7. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  8. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  9. [Dependency syndrome].

    Science.gov (United States)

    Vuorisalo, Sailaritta

    2013-01-01

    The most common causes of lower limb edema include cardiac insufficiency, venous insufficiency, insufficiency of lymph flow, and side effects of drugs. It can also be due to dependency syndrome, in which the edema and skin changes can only be explained by a passive calf muscle pump and the resulting venous hypertension. Underlying the drop foot is always immobilization for one reason or other. The patient must be given an explanation about the situation, activated to move if possible, and in any case guided to the use of support stockings and postural therapy.

  10. Chilaiditi syndrome.

    Science.gov (United States)

    Walsh, S D; Cruikshank, J G

    1977-02-01

    The features of the Chilaiditi Syndrome are described, together with the historial background, and a brief review of the literature on the condition is given. The prevalence in our geriatric population was found to be 1% and the 13 cases seen over 22 months are reported briefly. The prevalence increases with age and may be related to the consumption of drugs by the elderly; although in the majority it is asymptomatic, it may, particularly when associated with gastrointestinal symptoms, lead to unnecessary laparotomy. In the geriatric patient, interposition of the bowel should be considered in the differential diagnosis of air under the right hemidiaphragm.

  11. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  12. Jacobsen syndrome.

    Science.gov (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe

  13. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  14. Wells′ syndrome

    Directory of Open Access Journals (Sweden)

    Chaudhary Ajay

    1997-01-01

    Full Text Available Eosinophilic cellulitis/Wells′ syndrome is a rare dermatosis with erythematous, urticarial plaques that become more indurated and eventually have grey blue discoloration. The histopathology is distinctive, with a diffuse infiltrate composed predominantly of eosinophils but admixed with lymphocytes, histicytes and occasionally multinucleated histiocytes. There is dermal edema with so called "flame figures" that is composed of collagen focally enveloped with aggregates of eosinophilic granules. These collagen fibres may be surrounded by palisading histiocyes. The course is variable with waxing and waning and eventual spontaneous resolution.

  15. Cardiorenal syndrome.

    Science.gov (United States)

    Ronco, Claudio; Di Lullo, Luca

    2014-04-01

    Cardiorenal syndrome (CRS) includes a broad spectrum of diseases within which both the heart and kidneys are involved, acutely or chronically. An effective classification of CRS in 2008 essentially divides CRS in two main groups, cardiorenal and renocardiac CRS, based on primum movens of disease (cardiac or renal); both cardiorenal and renocardiac CRS are then divided into acute and chronic, according to onset of disease. The fifth type of CRS integrates all cardiorenal involvement induced by systemic disease. This article addresses the pathophysiology, diagnosis, treatment, and outcomes of the 5 distinct types of CRS. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  17. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  18. Cotard Syndrome.

    Science.gov (United States)

    Dieguez, Sebastian

    2018-01-01

    Cotard's syndrome is often described as the delusional belief that one is dead or non-existent. However, Jules Cotard's initial description (1880) of the "delusion of negations" was much richer and also involved delusions and claims of immortality and enormity, feelings of damnation, and illusions of bodily dissolution and transformation. Alternatively conceived as an extreme case of depression, hypochondria, or psychosis, the condition is considered rare and remains poorly understood. Cotard himself provided a taxonomy and several explanations for the condition, focusing on its distinction from classical persecutory delusions and suggesting that it could be a kind of reversed grandiosity. He proposed a psychosensory basis in the dissolution of mental imagery, which he then extended to a more general psychomotor impairment of volition. Other early authors highlighted a disorder of the bodily self, and more recent theories postulated an impairment of right hemispheric functions, leading to perceptual and somatosensory feelings of unreality, which coupled with reasoning impairments and an internalized attributional style led in turn to beliefs of non-existence. However, despite its striking presentation and its relevance to our understanding of self-awareness, Cotard's syndrome remains an elusive condition, rarely reported and poorly researched. © 2018 S. Karger AG, Basel.

  19. Tourette's Syndrome.

    Science.gov (United States)

    Gilbert, Donald L; Lipps, Tara D

    2005-05-01

    Tourette's syndrome is a childhood-onset neuropsychiatric disorder characterized by multiple motor and vocal tics, frequently accompanied by symptoms of obsessiveness and/or compulsiveness, anxiety, and behavioral impulsivity. Treatment of Tourette's syndrome symptoms should be considered when symptoms cause significant functional or social impairment or pain, as occurs with self-injurious tics. Because comorbid psychiatric disorders, particularly attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder often are present, clinicians must work with affected persons and families and prioritize treatment targets based on the specific disorder-related impairment. Treatment with alpha-2 adrenergic agonists may reduce tics and improve ADHD symptoms. Effective treatment of ADHD, even with stimulant medications, in most cases does not exacerbate tics. Treatment with selective serotonin reuptake inhibitors may reduce obsessive-compulsive and anxiety symptoms, secondarily reducing tics. Neuroleptics and atypical antipsychotics may be used for severe tics, but the risk of neurologic side effects and weight gain is significantly higher. Habit reversal treatment shows promise as a nonpharmacologic intervention. Use of deep brain stimulation has produced benefit in three severely affected adults but should still be considered experimental.

  20. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  1. Asperger Syndrome (For Parents)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Asperger Syndrome KidsHealth / For Parents / Asperger Syndrome What's in ... Print en español Síndrome de Asperger What Is Asperger Syndrome? Asperger syndrome (AS) is a type of ...

  2. Burnout Syndrome of Teachers

    OpenAIRE

    Semrádová, Michaela

    2013-01-01

    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  3. Brain Fag Syndrome

    African Journals Online (AJOL)

    Introduction. The Brain Fag Syndrome (BFS) was defined in the Diagnostic and. Statistical Manual of Mental Disorders (DSM-IV) as a culture bound syndrome in 1994, just like Koro syndrome and other culture related syndromes.1 BFS is a tetrad of somatic complaints; cognitive impairments; sleep related complaints; and ...

  4. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. Trichorhinophalangeal syndrome

    Directory of Open Access Journals (Sweden)

    Mario Vaccaro

    2017-07-01

    Full Text Available Trichorhinophalangeal syndrome (TRPS is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic.The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in some cases with the non-classical clinical presentation. Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem involvement.

  6. HEPATORENAL SYNDROME

    Directory of Open Access Journals (Sweden)

    Matjaž Hafner

    2001-12-01

    Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.

  7. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre......-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4-6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other...... treatment options included anticoagulants in 46% of cases, which is unwarrantedly high, as to date, no evidence of the positive effects of anticoagulants in LS exists. Only two cases had ligation of the internal jugular vein performed. This review confirms the rare, but severe aspects of LS. Mortality from...

  8. Frailty syndrome

    DEFF Research Database (Denmark)

    Fumagalli, Stefano; Potpara, Tatjana S; Bjerregaard Larsen, Torben

    2017-01-01

    The age of patients presenting with complex arrhythmias is increasing. Frailty is a multifaceted syndrome characterized by an increased vulnerability to stressors and a decreased ability to maintain homeostasis. The prevalence of frailty is associated with age. The aims of this European Heart...... Rhythm Association (EHRA) EP Wire survey were to evaluate the proportion of patients with frailty and its influence on the clinical management of arrhythmias. A total of 41 centres-members of the EHRA Electrophysiology Research Network-in 14 European countries completed the web-based questionnaire...... in June 2017. Patients over 70 years represented 53% of the total treated population, with the proportion of frail elderly individuals reaching approximately 10%; 91.7% of the responding centres reported treating frail subjects in the previous year. The respondents usually recognized frailty based...

  9. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... stillborn. Eye anomalies were found in 20/24 (83%), syndactyly in 14/24 (58%), and laryngeal anomalies in 5/24 (21%) patients. Ambiguous genitalia were observed in 3/24 (13%) cases. Bilateral renal agenesis was present in 12/24 (50%) and unilateral in 4/24 (17%) cases. The frequency of anorectal anomalies...

  10. Goldenhar syndrome.

    Science.gov (United States)

    Hossain, M M; Akhonda, A H; Islam, M F; Akonjee, A R

    2012-07-01

    A female child of 10 months age from Netrokona, Bangladesh was admitted in the department of ophthalmology, Mymensingh Medical College Hospital, Mymensingh on 20.01.12 with the complaints of swelling on both her eyes and swelling of area in front of both ears. The child is mentally alert. Her fixation reflex is central, steady and maintained. On examination whitish growth on limbus, hard in consistency, non mobile, non tender, fixed with underlying structure both eyes. There are pre auricular skin tags. There is no cardiac abnormality and ENT consultation done reveals normal except pre-auricular ear tags. X ray of mandible and maxilla shows hypoplasia of maxilla and mandible. Clinical examination and investigations confirmed the diagnosis as Goldenhar syndrome.

  11. Griscelli syndrome.

    Science.gov (United States)

    Emanuel, Patrick O; Sternberg, Lauren J; Phelps, Robert G

    2007-01-01

    The dermatology staff was called to evaluate abnormal hair on a 22-month-old Hispanic girl whose parents were first cousins. Her medical history was significant for leptomeningitis with subsequent neurologic devastation, gastroesophageal reflux disease, and recurrent respiratory infections. Her hospital course was complicated by sepsis, liver dysfunction, pan-cytopenia, and disseminated intravascular coagulation. She had developed normally for the first year of life. At 13 months she became progressively lethargic and developed floppy muscle tone; a delay in mental and motor milestones was recognized. Results of a metabolic workup were negative. On examination she was noted to have generalized excessively fair skin when compared with her parents. She had silver-gray hair (Figure 1) and white eyebrows and body hair. Her maternal grandfather and granduncles had silver hair since childhood, but were without health problems. A maternal family member was said to have light skin. The presumed diagnosis before pathologic examination was Chediak-Higashi syndrome. Hematoxylin and eosin stain tests revealed prominent melanocytes in the basal layer of the epidermis. The melanocytes were large and distended with a large volume of melanin (Figure 2). The adjacent keratinocytes were completely devoid of melanin. Application of Masson-Fontana ammoniac silver stain highlighted prominent melanocytic melanin and a relative paucity of melanin in the adjacent keratinocytes (Figure 3). Microscopic examination of her hair revealed clumps of melanin of various sizes and shapes irregularly distributed throughout the hair shaft. Ultrastructural examination of the epidermis showed the melanocytes were distended by an accumulation of large stage IV mature melanosomes. Peripheral blood smear failed to show abnormal granules, even after repeated examination. Based on the clinical features and the pathologic findings, a diagnosis of Griscelli syndrome type 2 was made.

  12. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  13. What Is Respiratory Distress Syndrome?

    Science.gov (United States)

    ... Home / Respiratory Distress Syndrome Respiratory Distress Syndrome What Is Respiratory distress syndrome (RDS) ... This condition is called apnea (AP-ne-ah). Respiratory Distress Syndrome Complications Depending on the severity of ...

  14. Learning about Fragile X Syndrome

    Science.gov (United States)

    ... Resources for Fragile X Syndrome What is fragile X syndrome? Fragile X syndrome is the most common form of ... Top of page What are the symptoms of fragile X syndrome? A boy who has the full FMR1 mutation ...

  15. Genetics Home Reference: RAPADILINO syndrome

    Science.gov (United States)

    ... intelligence. The varied signs and symptoms of RAPADILINO syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome . These syndromes are also ...

  16. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Rett syndrome Rett syndrome Printable PDF Open All Close All Enable ... autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder Rett's disorder Rett's syndrome RTS RTT Related ...

  17. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  18. Cushing syndrome in pediatrics.

    Science.gov (United States)

    Stratakis, Constantine A

    2012-12-01

    Cushing syndrome is characterized by truncal obesity, growth deceleration, skin changes, muscle weakness, and hypertension. Cushing syndrome in childhood usually results from the exogenous administration of glucocorticoids. This article presents the causes and discusses the treatment of endogenous Cushing syndrome. It also discusses the clinical and molecular genetics of inherited forms of this syndrome. Cushing syndrome needs to be diagnosed and treated properly when first recognized; improper treatment can turn this otherwise completely curable disorder into a chronic ailment. Barriers to optimal care of a pediatric patient with Cushing syndrome are discussed. Published by Elsevier Inc.

  19. Familial Miller Fisher syndrome.

    Science.gov (United States)

    Peeples, Eric

    2011-05-01

    Miller Fisher syndrome is an acute inflammatory polyradiculoneuropathy that is generally considered a variant of Guillain-Barré syndrome and is characterized by the clinical triad of ataxia, areflexia, and ophthalmoplegia. Several reports of familial Guillain-Barré syndrome have been reported, indicating a possible underlying genetic and/or environmental predisposition to the development of Guillain-Barré syndrome. A familial association in Miller Fisher syndrome has not previously been described in the literature. We report 2 cases of Miller Fisher syndrome presenting simultaneously in siblings, with a review of recent relevant literature.

  20. Antiphospholipid syndrome.

    Science.gov (United States)

    Schreiber, Karen; Sciascia, Savino; de Groot, Philip G; Devreese, Katrien; Jacobsen, Soren; Ruiz-Irastorza, Guillermo; Salmon, Jane E; Shoenfeld, Yehuda; Shovman, Ora; Hunt, Beverley J

    2018-01-11

    Antiphospholipid syndrome (APS) is an autoimmune disease characterized by the presence of antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies and anti-β2-glycoprotein 1 antibodies. APS can present with a variety of clinical phenotypes, including thrombosis in the veins, arteries and microvasculature as well as obstetrical complications. The pathophysiological hallmark is thrombosis, but other factors such as complement activation might be important. Prevention of thrombotic manifestations associated with APS includes lifestyle changes and, in individuals at high risk, low-dose aspirin. Prevention and treatment of thrombotic events are dependent mainly on the use of vitamin K antagonists. Immunosuppression and anticomplement therapy have been used anecdotally but have not been adequately tested. Pregnancy morbidity includes unexplained recurrent early miscarriage, fetal death and late obstetrical manifestation such as pre-eclampsia, premature birth or fetal growth restriction associated with placental insufficiency. Current treatment to prevent obstetrical morbidity is based on low-dose aspirin and/or low-molecular-weight heparin and has improved pregnancy outcomes to achieve successful live birth in >70% of pregnancies. Although hydroxychloroquine and pravastatin might further improve pregnancy outcomes, prospective clinical trials are required to confirm these findings.

  1. Tourette syndrome.

    Science.gov (United States)

    Shahana, Nasrin; Gilbert, Donald L

    2013-01-01

    This chapter addresses research applications of transcranial magnetic stimulation (TMS) in Tourette syndrome (TS). TS is a primary, idiopathic, neurological disorder characterized by multiple motor and vocal tics of childhood onset, with duration greater than 1 year, and associated in the majority of cases with attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and/or other psychiatric disorders. The majority of the chapter is a critical synopsis of case-control studies applying basic single- and paired-pulse TMS techniques to "resting" motor cortex. Newer applications of theta-burst stimulation are also analyzed. A number of intriguing findings have emerged, which may reflect abnormalities in several disrupted inhibitory or modulatory pathways that may underlie the tendency to manifest tics as well as commonly co-occurring problems such as ADHD and OCD. Chapter sections are organized by type of TMS measurement, with each section describing briefly the technique, the pitfalls of the technique with regard to the above-described challenges, the findings in TS using that technique, and the possible implications for those findings in furthering our understanding of TS. Possible future applications for TMS in studying TS are also discussed. © 2013 Elsevier B.V. All rights reserved.

  2. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  3. The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells.

    Science.gov (United States)

    Bailey, Arnold D; Gray, Lucas T; Pavelitz, Thomas; Newman, John C; Horibata, Katsuyoshi; Tanaka, Kiyoji; Weiner, Alan M

    2012-05-01

    Cockayne syndrome is a segmental progeria most often caused by mutations in the CSB gene encoding a SWI/SNF-like ATPase required for transcription-coupled DNA repair (TCR). Over 43Mya before marmosets diverged from humans, a piggyBac3 (PGBD3) transposable element integrated into intron 5 of the CSB gene. As a result, primate CSB genes now generate both CSB protein and a conserved CSB-PGBD3 fusion protein in which the first 5 exons of CSB are alternatively spliced to the PGBD3 transposase. Using a host cell reactivation assay, we show that the fusion protein inhibits TCR of oxidative damage but facilitates TCR of UV damage. We also show by microarray analysis that expression of the fusion protein alone in CSB-null UV-sensitive syndrome (UVSS) cells induces an interferon-like response that resembles both the innate antiviral response and the prolonged interferon response normally maintained by unphosphorylated STAT1 (U-STAT1); moreover, as might be expected based on conservation of the fusion protein, this potentially cytotoxic interferon-like response is largely reversed by coexpression of functional CSB protein. Interestingly, expression of CSB and the CSB-PGBD3 fusion protein together, but neither alone, upregulates the insulin growth factor binding protein IGFBP5 and downregulates IGFBP7, suggesting that the fusion protein may also confer a metabolic advantage, perhaps in the presence of DNA damage. Finally, we show that the fusion protein binds in vitro to members of a dispersed family of 900 internally deleted piggyBac elements known as MER85s, providing a potential mechanism by which the fusion protein could exert widespread effects on gene expression. Our data suggest that the CSB-PGBD3 fusion protein is important in both health and disease, and could play a role in Cockayne syndrome. Copyright © 2012 Elsevier B.V. All rights reserved.

  4. [Acute catatonic syndrome after neuroleptic malignant syndrome].

    Science.gov (United States)

    Benjelloun, G; Jehel, L; Abgrall, G; Pelissolo, A; Allilaire, Jf

    2005-01-01

    We report the case of a young woman who deve-loped catatonic syndrome a few days after neuroleptic mali-gnant syndrome (NMS), arising the problem of the chronology of both affections. A 20-year old woman with an history of bipolar disorder, experienced an acute manic syndrome that made hospitalization necessary. Fourteen days after loxa-pine prescription, the patient developed a NMS (DSM IV criteria) dyskinesia, dysphagia, fever and alteration of cons-ciousness. Hepatic transaminases and muscular enzymes increased. Neuroleptic was immediately interrupted and benzodiazepines (Lorazepam) was started. Biological parameters were normalized after 7 days, hyperpyrexia decreased and extrapyramidal symptoms disappeared but manic symptoms persisted. Two weeks later, the patient presented nega-tivism, rigidity of the four limb, catalepsia and hyperpyrexia. She also had been anxious for death and presented auditory hallucinations. Bacteriological samples and computed tomography were normal. This catatonic symptoms did not decreased and electroconvulsive therapy (ECT) was necessary. After six ECT, she started standing up, walking, taking food and speaking. After 12 ECT, the clinical state was the same as it was before the acute episod. The patient was then treated with valproate and lorazepam for anxiety symptoms. Acute catatonie, a rare and life-threatening acute syndrome was described in psychosis before the advent of neuroleptic drugs. It's characterized by hyperexia, stupor alternated with exctement, rigidity. Many etiolologic factors have been reported for this affection: psychogenic, organic or toxic. Neuroletic malignant syndrome is a potentially fatal complication of neuroleptic treatment occuring in about 1% of patients treated with neuroleptic. This syndrome is characterised by consciousness alteration, extrapyramidal symptoms, autonomic and thermic disorders. Similar clinical and biological features in catatonia and neuroleptic malignant syndrome (NMS) suggest a

  5. Sexuality and Down Syndrome

    Science.gov (United States)

    ... NDSS Events Shop NDSS Contact NDSS > Resources > Sexuality Sexuality Sexuality & Down Syndrome Human sexuality encompasses an individual’s self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  6. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  7. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  8. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A

    2017-04-01

    Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

  9. Facts about Down Syndrome

    Science.gov (United States)

    ... syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J ... 11):991-1002. Bull MJ, the Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. ...

  10. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    f AQ FREQUENTLY ASKED QUESTIONS FAQ121 GYNECOLOGIC PROBLEMS Polycystic Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ...

  11. Pregnancy Complications: HELLP Syndrome

    Science.gov (United States)

    ... baby Common illnesses Family health & safety Complications & Loss Pregnancy complications Preterm labor & premature birth The newborn intensive care ... Point, NY 10980 Close X Home > Complications & Loss > Pregnancy complications > HELLP syndrome HELLP syndrome E-mail to a ...

  12. Thoracic Outlet Syndrome

    Science.gov (United States)

    ... TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors ... TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors ...

  13. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  14. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  15. Munchausen syndrome by proxy

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001555.htm Munchausen syndrome by proxy To use the sharing features on this page, please enable JavaScript. Munchausen syndrome by proxy is a mental illness and ...

  16. Tics and Tourette Syndrome

    Science.gov (United States)

    ... me that I could give to my child’s teacher/daycare provider? Other organizationsTourette Syndrome Association ResourcesRecognition and Management of Tourette’s Syndrome and Tic Disorders by MM Bagheri, J Kerbeshian, L Burd ( ...

  17. Cri du chat syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001593.htm Cri du chat syndrome To use the sharing features on this page, please enable JavaScript. Cri du chat syndrome is a group of symptoms that result from ...

  18. Ehlers-Danlos Syndrome

    Science.gov (United States)

    ... skinned people, the underlying blood vessels are very visible through the skin. Ehlers-Danlos syndrome, vascular type, ... history of Ehlers-Danlos syndrome and you're thinking about starting a family, you may benefit from ...

  19. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... Groups Hear From the Experts Follow us on Facebook! Alport Syndrome Foundation of USA 10 hours ago ... the various stages of kidney disease. View on Facebook · Share View on Facebook The Alport syndrome Foundation ...

  20. Alport Syndrome Foundation

    Science.gov (United States)

    ... Groups Hear From the Experts Follow us on Facebook! Alport Syndrome Foundation of USA 1 day ago ... 2017. Karol provided an ov... Video View on Facebook · Share View on Facebook The Alport syndrome Foundation ...

  1. Battered woman syndrome.

    Science.gov (United States)

    Dorkins, E; Smith, J

    1998-12-01

    Recent judgments in the Court of Appeal have highlighted the significance of battered woman syndrome. This article describes the origin and features of the syndrome and some of its shortcomings. Medical aspects and legal applications of the concept are discussed.

  2. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  3. Guillain-Barre Syndrome

    Science.gov (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  4. Ramsay Hunt syndrome

    Science.gov (United States)

    Hunt syndrome; Herpes zoster oticus; Geniculate ganglion zoster; Geniculate herpes; Herpetic geniculate ganglionitis ... The varicella-zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and ...

  5. Klinefelter Syndrome (For Teens)

    Science.gov (United States)

    ... like penis and testicle growth, and growth of body hair and muscles. Boys with Klinefelter syndrome may also ... rare cases, not at all) less facial and body hair following puberty Boys with Klinefelter syndrome may have ...

  6. Ear, Nose & Throat Issues & Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  7. [The Capgras syndrome].

    Science.gov (United States)

    Anikina, M A; Levin, O S

    2013-01-01

    The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

  8. The post abortive syndrom

    OpenAIRE

    Fojtíková, Kateřina

    2009-01-01

    The issue of the post abortive syndrome is new and inadequately discussed. The syndrome itself is a set of symptoms and troubles that a certain number of women develop after an abortion, be it a miscarriage or an induced termination of pregnancy. The syndrome is regarded as a special form of posttraumatic stress disorder. The term of post abortive syndrome is rather divisive, a fact attributable primarily to the important role that the term plays in the prolife and pro-abortion controversies....

  9. Metabolic Syndrome and Migraine

    OpenAIRE

    Amit eSachdev; Michael eMarmura

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, ...

  10. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna

    2015-01-01

    Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

  11. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Priori Silvia G

    2006-09-01

    Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.

  12. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

    Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

    1990-01-01

    Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

  13. Arthritis in Down's syndrome.

    Science.gov (United States)

    Dacre, J E; Huskisson, E C

    1988-03-01

    A 31 year old man with Down's syndrome presented with a 10 year history of an inflammatory polyarthritis resembling juvenile chronic arthritis. This case was similar to those already reported of an arthropathy associated with Down's syndrome but was eventually found to be gout. This emphasised the importance of serum uric acid estimation in patients with Down's syndrome and coexistent arthritis.

  14. Arthritis in Down's syndrome.

    OpenAIRE

    Dacre, J. E.; Huskisson, E C

    1988-01-01

    A 31 year old man with Down's syndrome presented with a 10 year history of an inflammatory polyarthritis resembling juvenile chronic arthritis. This case was similar to those already reported of an arthropathy associated with Down's syndrome but was eventually found to be gout. This emphasised the importance of serum uric acid estimation in patients with Down's syndrome and coexistent arthritis.

  15. Lethal multiple pterygium syndrome

    Directory of Open Access Journals (Sweden)

    Tulika Joshi

    2016-01-01

    Full Text Available The multiple pterygium syndrome is consist of wide range of fetal malformations which have a genetic linkage. A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome. We present a sporadic case of lethal multiple pterygium syndrome.

  16. Cardio-renal syndrome

    OpenAIRE

    Joseph Gnanaraj; Jai Radhakrishnan

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  17. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E

    1991-01-01

    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery...

  18. Kounis syndrome and ziprasidone.

    Science.gov (United States)

    Hamera, Leonard; Khishfe, Basem F

    2017-03-01

    Kounis syndrome (KS), described by Kounis and Zavras in 1991, is the manifestation of an allergic reaction preceding and leading to an acute coronary syndrome (ACS). There are three variants of Kounis Syndrome. Here we describe a novel case report of a type 1 variant secondary to Ziprasidone. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Treacher Collins syndrome

    Directory of Open Access Journals (Sweden)

    Y Samata

    2008-01-01

    Full Text Available Treacher Collin′s syndrome is a rare syndrome that is characterized primarily by defects of the structures derived from first and second branchial arches. It is a group of closely related defects of head and face; often hereditary/familial in pattern. We report a case of a 20 year old female patient who presented with features of this syndrome.

  20. Treacher Collins syndrome

    OpenAIRE

    Y Samata; K S Ganapathy; S Latha; B N Padmavathi

    2008-01-01

    Treacher Collin′s syndrome is a rare syndrome that is characterized primarily by defects of the structures derived from first and second branchial arches. It is a group of closely related defects of head and face; often hereditary/familial in pattern. We report a case of a 20 year old female patient who presented with features of this syndrome.

  1. Exophthalmos in Cushing's syndrome.

    Science.gov (United States)

    Kelly, W

    1996-08-01

    Exophthalmos was noted in 4 of the 12 patients reported by Harvey Cushing in 1932. Although exophthalmos has often been included in clinical descriptions, no previous study has reported actual measurements in patients with active and treated Cushing's syndrome, and in control patients. The aim of this study was to obtain these measurements. Thirty-one patients with active Cushing's syndrome (19 iatrogenic), 15 with treated Cushing's syndrome, 18 with Graves' ophthalmopathy, 59 control patients, and 3 patients with active Cushing's syndrome plus a family or personal history of thyroid disease. A consecutive series of patients with active and treated Cushing's syndrome were assessed. They were compared with patients with Graves' ophthalmopathy, and with control patients. Exophthalmos was assessed by the author using a Hertel meter. Urinary free cortisol was measured on patients with Cushing's syndrome, and serum thyroxine was estimated for them, and for the patients with Graves' ophthalmopathy. Exophthalmos exceeding 16 mm (> 2 SD above normal mean) was found in 45% of active Cushing's syndrome, 21% of iatrogenic Cushing's syndrome, 20% of treated Cushing's syndrome, 2% of normal controls, and 77% of patients with Graves' ophthalmopathy. No patient with Cushing's syndrome had significant symptoms due to exophthalmos. Patients with active Cushing's syndrome have statistically significant exophthalmos. This rarely causes symptoms, and diminishes when cortisol concentrations become normal. Cushing's syndrome and autoimmune thyroid disease may coexist in patients with exophthalmos.

  2. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha

    2010-01-01

    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  3. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  4. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Goldman Michel

    2007-09-01

    Full Text Available Abstract Hypereosinophilic syndromes (HES constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to middle-aged patients, but may concern any age group. Male predominance (4–9:1 ratio has been reported in historic series but this is likely to reflect the quasi-exclusive male distribution of a sporadic hematopoietic stem cell mutation found in a recently characterized disease variant. Target-organ damage mediated by eosinophils is highly variable among patients, with involvement of skin, heart, lungs, and central and peripheral nervous systems in more than 50% of cases. Other frequently observed complications include hepato- and/or splenomegaly, eosinophilic gastroenteritis, and coagulation disorders. Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant, or to increased interleukin (IL-5 production by a clonally expanded T cell population (lymphocytic variant, most frequently characterized by a CD3-CD4+ phenotype. Diagnosis of HES relies on observation of persistent and marked hypereosinophilia responsible for target-organ damage, and exclusion of underlying causes of hypereosinophilia, including allergic and parasitic disorders, solid and hematological malignancies, Churg-Strauss disease, and HTLV infection. Once these criteria are fulfilled, further testing for eventual pathogenic classification is warranted using appropriate cytogenetic and functional approaches. Therapeutic

  5. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian

    2016-03-01

    Full Text Available Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiology, as well as the physical and medical profile of Down syndrome is presented.Keywords: Down syndrome review; Trisomy 21; historical perspective; etiology; types and epidemiology; features; Optometrist

  6. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  7. Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.

    Directory of Open Access Journals (Sweden)

    Jemima Barrowman

    Full Text Available The proteolytic maturation of the nuclear protein lamin A by the zinc metalloprotease ZMPSTE24 is critical for human health. The lamin A precursor, prelamin A, undergoes a multi-step maturation process that includes CAAX processing (farnesylation, proteolysis and carboxylmethylation of the C-terminal CAAX motif, followed by ZMPSTE24-mediated cleavage of the last 15 amino acids, including the modified C-terminus. Failure to cleave the prelamin A "tail", due to mutations in either prelamin A or ZMPSTE24, results in a permanently prenylated form of prelamin A that underlies the premature aging disease Hutchinson-Gilford Progeria Syndrome (HGPS and related progeroid disorders.Here we have investigated the features of the prelamin A substrate that are required for efficient cleavage by ZMPSTE24. We find that the C-terminal 41 amino acids of prelamin A contain sufficient context to allow cleavage of the tail by ZMPSTE24. We have identified several mutations in amino acids immediately surrounding the cleavage site (between Y646 and L647 that interfere with efficient cleavage of the prelamin A tail; these mutations include R644C, L648A and N650A, in addition to the previously reported L647R. Our data suggests that 9 of the 15 residues within the cleaved tail that lie immediately upstream of the CAAX motif are not critical for ZMPSTE24-mediated cleavage, as they can be replaced by the 9 amino acid HA epitope. However, duplication of the same 9 amino acids (to increase the distance between the prenyl group and the cleavage site impairs the ability of ZMPSTE24 to cleave prelamin A.Our data reveals amino acid preferences flanking the ZMPSTE24 cleavage site of prelamin A and suggests that spacing from the farnesyl-cysteine to the cleavage site is important for optimal ZMPSTE24 cleavage. These studies begin to elucidate the substrate requirements of an enzyme activity critical to human health and longevity.

  8. Human longevity and common variations in the LMNA gene: a meta-analysis

    Science.gov (United States)

    Conneely, Karen N.; Capell, Brian C.; Erdos, Michael R.; Sebastiani, Paola; Solovieff, Nadia; Swift, Amy J.; Baldwin, Clinton T.; Budagov, Temuri; Barzilai, Nir; Atzmon, Gil; Puca, Annibale A.; Perls, Thomas T.; Geesaman, Bard J.; Boehnke, Michael; Collins, Francis S.

    2012-01-01

    Summary A mutation in the LMNA gene is responsible for the most dramatic form of premature aging, Hutchinson-Gilford progeria syndrome (HGPS). Several recent studies have suggested that protein products of this gene might have a role in normal physiological cellular senescence. To explore further LMNA's possible role in normal aging, we genotyped 16 SNPs over a span of 75.4 kb of the LMNA gene on a sample of long-lived individuals (US Caucasians with age ≥95 years, N=873) and genetically matched younger controls (N=443). We tested all common non-redundant haplotypes (frequency ≥ 0.05) based on subgroups of these 16 SNPs for association with longevity. The most significant haplotype, based on 4 SNPs, remained significant after adjustment for multiple testing (OR = 1.56, P=2.5×10−5, multiple-testing-adjusted P=0.0045). To attempt to replicate these results, we genotyped 3448 subjects from four independent samples of long-lived individuals and control subjects from 1) the New England Centenarian Study (NECS) (N=738), 2) the Southern Italian Centenarian Study (SICS) (N=905), 3) France (N=1103), and 4) the Einstein Ashkenazi Longevity Study (N=702). We replicated the association with the most significant haplotype from our initial analysis in the NECS sample (OR = 1.60, P=0.0023), but not in the other three samples (P>.15). In a meta-analysis combining all five samples, the best haplotype remained significantly associated with longevity after adjustment for multiple testing in the initial and follow-up samples (OR = 1.18, P=7.5×10−4, multiple-testing-adjusted P=0.037). These results suggest that LMNA variants may play a role in human lifespan. PMID:22340368

  9. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  10. [Chromosome breakage syndrome and fragile X syndrome].

    Science.gov (United States)

    Shiraishi, Y

    1995-11-01

    Chromosome instability is a characteristic cytogenetic feature of a number of genetically determined human disorders collectively known as chromosome breakage syndromes. Included among the disorders are Bloom's syndrome (BS), Fanconi's anemia (FA), ataxia telangiectasia (AT). In each of the syndromes chromosome instability exists in the form of increased frequencies of breaks and interchanges occurring either spontaneously or following treatment with various DNA-damaging agents. These diseases have in common an autosomal recessive transmission and an increased tendency to develop malignancies. The blood cells of subjects with AT, BS, or FA are significantly more radiosensitive than those of controls, particularly in the occurrence of chromosome aberrations.

  11. Goldenhar syndrome in association with Duane syndrome.

    Science.gov (United States)

    Shrestha, U D; Adhikari, S

    2012-01-01

    Goldenhar syndrome (GHS) is also known as Oculo-Auriculo-Vertebral (OAV) syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS) is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error.

  12. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

    Science.gov (United States)

    Elouej, Sahar; Beleza-Meireles, Ana; Caswell, Richard; Colclough, Kevin; Ellard, Sian; Desvignes, Jean Pierre; Béroud, Christophe; Lévy, Nicolas; Mohammed, Shehla; De Sandre-Giovannoli, Annachiara

    2017-06-01

    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

  13. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev

    2012-11-01

    Full Text Available Migraine and metabolic syndrome are highly prevaleirnt and costly conditions.The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogensis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  14. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  15. Migraine in metabolic syndrome.

    Science.gov (United States)

    Guldiken, Baburhan; Guldiken, Sibel; Taskiran, Bengur; Koc, Gonul; Turgut, Nilda; Kabayel, Levent; Tugrul, Armagan

    2009-03-01

    Recent studies suggest that insulin resistance is more common in patients with migraine. Insulin resistance underlies the pathogenesis of obesity, diabetes, and hypertension that are components of metabolic syndrome. As migraine is associated with an increased risk of vascular disorders, such as stroke, and migraine patients have higher diastolic blood pressure than healthy individuals, we aimed to investigate the 1-year prevalence of migraine in metabolic syndrome. Two hundred ten patients with metabolic syndrome were enrolled in the study. Migraine was diagnosed according to International Classification of Headache Disorders-II criteria. Migraine prevalence was estimated as 11.9% in men and 22.5% in women with metabolic syndrome. Of the metabolic syndrome components, diabetes, increased waist circumference, and body mass index were significantly more frequent in patients with migraine in contrast to those without migraine (Pmigraine prevalence in metabolic syndrome was higher than in the general population.

  16. Metabolic syndrome and migraine.

    Science.gov (United States)

    Sachdev, Amit; Marmura, Michael J

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogenesis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  17. [Menopause and metabolic syndrome].

    Science.gov (United States)

    Meirelles, Ricardo M R

    2014-03-01

    The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

  18. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder

    2011-01-01

    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  19. [Chilaidity syndrome. Case report].

    Science.gov (United States)

    Candela, Stefano; Candela, Giancarlo; Di Libero, Lorenzo; Argano, Francesco; Romano, Ornella; Iannella, Iolanda

    2012-01-01

    Chilaidity syndrome is a mal position by bowel mal rotation o malfissation. It is more common in right side expecially in obese people. If asyimptomatic, the syndrome is an occasional comparison by radiology, surgical exploration by laparoscopy or autopsy, otherwise, if symptomatic, there are obstructive symptoms,abdominal pain, nausea, vomiting, abdominal distension, flatulence, breath, constipation and anorexia. Diagnosis is radiological. We present a rare case of this syndrome in a man with serious obstructive symptoms.

  20. Genetics Home Reference: Moebius syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Moebius syndrome Moebius syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Moebius syndrome is a rare neurological condition that primarily affects ...

  1. Genetics Home Reference: Troyer syndrome

    Science.gov (United States)

    ... peripheral nervous system). Troyer syndrome is a complex hereditary spastic paraplegia. People with Troyer syndrome can experience a variety ... Other Diagnosis and Management Resources (3 links) GeneReview: Hereditary Spastic Paraplegia ... Troyer Syndrome Spastic Paraplegia Foundation, Inc.: ...

  2. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Cockayne syndrome Cockayne syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Cockayne syndrome is a rare disorder characterized by an abnormally ...

  3. Genetics Home Reference: Angelman syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Angelman syndrome Angelman syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Angelman syndrome is a complex genetic disorder that primarily ...

  4. Genetics Home Reference: Arts syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Arts syndrome Arts syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Arts syndrome is a disorder that causes serious neurological ...

  5. Carpal Tunnel Syndrome (For Kids)

    Science.gov (United States)

    ... OK for Kids? Your Teeth Heart Murmurs Carpal Tunnel Syndrome KidsHealth > For Kids > Carpal Tunnel Syndrome Print ... syndrome in the first place. Where Is This Tunnel? Take a look at the palm of your ...

  6. Mental Health Issues & Down Syndrome

    Science.gov (United States)

    ... born with Down syndrome have a heart defect. Mental Health Issues & Down Syndrome At least half of ... and adults with Down syndrome face a major mental health concern during their life span. Obstructive Sleep ...

  7. Genetics Home Reference: Liddle syndrome

    Science.gov (United States)

    ... Liddle syndrome Liddle syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension ...

  8. Compartment Syndrome in Children.

    Science.gov (United States)

    Hosseinzadeh, Pooya; Hayes, Christopher B

    2016-07-01

    Compartment syndrome in children can present differently than adults. Increased analgesic need should be considered the first sign of evolving compartment syndrome in children. Children with supracondylar humerus fractures, floating elbow injuries, operatively treated forearm fractures, and tibia fractures are at high risk for developing compartment syndrome. Elbow flexion beyond 90° in supracondylar humerus fractures and closed treatment of forearm fractures in floating elbow injuries are associated with increased risk of compartment syndrome. Prompt diagnosis and treatment with fasciotomy in children result in excellent long-term outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Sjogren's Syndrome Information Page

    Science.gov (United States)

    ... Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS Myotonia Congenita Information Page NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page Congenital ...

  10. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  11. Moebius Syndrome Foundation

    Science.gov (United States)

    ... friends and relatives For professionals Treatment options Video introduction to Moebius syndrome Who we are Mission and History Foundation leadership Scientific advisory board Press room Our stories Financial ...

  12. Postural Tachycardia Syndrome

    Science.gov (United States)

    ... sensitivity. Other NINDS-funded research is investigating the hypothesis that POTS is a syndrome of different subtypes, with different underlying mechanisms. ... Publications Definition Postural ...

  13. Capgras' syndrome with organic disorders.

    Science.gov (United States)

    Collins, M. N.; Hawthorne, M. E.; Gribbin, N.; Jacobson, R.

    1990-01-01

    Capgras' syndrome, one form of the delusional misidentification syndromes, is described. Three patients with the syndrome are reported. The first had a right cerebral infarction, the second had nephrotic syndrome secondary to severe pre-eclampsia in the puerperium, and the third had uncontrolled diabetes mellitus with dementia. Evidence is reviewed regarding an organic aetiology for Capgras' syndrome. We conclude that, when the syndrome is present, a thorough search for organic disorder should be made. PMID:2084656

  14. Polycystic Ovary Syndrome (PCOS) Fact Sheet

    Science.gov (United States)

    ... Home A-Z Health Topics Polycystic ovary syndrome Polycystic ovary syndrome > A-Z Health Topics Polycystic ovary syndrome fact ... To receive Publications email updates Enter email Submit Polycystic ovary syndrome Polycystic ovary syndrome (PCOS) is a health problem ...

  15. What Are the Treatments for Rett Syndrome?

    Science.gov (United States)

    ... Pinterest Email Print What are the treatments for Rett syndrome? Most people with Rett syndrome benefit from well- ... 2012, from http://www.rettsyndrome.org/understanding-rett-syndrome/about-rett-syndrome [top] PubMed Health. (2010). Rett syndrome . Retrieved ...

  16. Rubinstein-Taybi syndrome

    African Journals Online (AJOL)

    e major manifestations of Rubinstein-Taybi syn- drome (RSTS) (OMIM 180849), also referred to as the 'broad thumb-hallux syndrome' and 'multiple congenital anomalies/mental retardation syndrome', are a characteristic facies, broad thumbs and great toes, stunted stature and mental retardation. Following the initial.

  17. Chronic fatigue syndrome

    African Journals Online (AJOL)

    syndrome is also called yuppie 'flu. Objective. To acknowledge the clinical syndrome CFS, and outline the diagnostic criteria and rational management ... levels of exercise that would have been tolerated easily in the patient's premorbid state. "7. Generalised headaches (or a type, severity or pattern different from headaches ...

  18. Ehlers-Danlos' syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

    2016-01-01

    Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise...

  19. The sick building syndrome

    OpenAIRE

    Joshi Sumedha

    1985-01-01

    The sick building syndrome comprises of various nonspecific symptoms that occur in the occupants of a building. This feeling of ill health increases sickness absenteeism and causes a decrease in productivity of the workers. As this syndrome is increasingly becoming a major occupational hazard, the cause, management and prevention of this condition have been discussed in this article.

  20. The sick building syndrome.

    Science.gov (United States)

    Joshi, Sumedha M

    2008-08-01

    The sick building syndrome comprises of various nonspecific symptoms that occur in the occupants of a building. This feeling of ill health increases sickness absenteeism and causes a decrease in productivity of the workers. As this syndrome is increasingly becoming a major occupational hazard, the cause, management and prevention of this condition have been discussed in this article.

  1. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

    Full Text Available A case of yellow nail syndrome is described in a forty year old male patient who presented with classical triad of this syndrome i.e. deformed yellow nails, lymph-edema and chronic recurrent pleural effusion. The practical problems in the di-agnosis are also briefly discussed with emphasis on awareness of this rare clinical entity.

  2. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  3. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having

  4. Alexithymia in Noonan syndrome

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Hendrikx, J.L.M.; Doorakkers, M.C.; Egger, J.I.M.; Burgt, C.J.A.M. van der; Tuinier, S.

    2004-01-01

    Although Noonan syndrome is quite prevalent, there is a general paucity in the description of psychological and psychiatric aspects. In the present paper a 19-year-old female patient with Noonan syndrome is described who presented with anxiety symptoms. Mutation analysis in PTPN11, the NS1 gene on

  5. The quadrilateral space syndrome.

    Science.gov (United States)

    Okino, S; Miyaji, H; Matoba, M

    1995-05-01

    We describe a 21-year-old woman with left shoulder pain increased by desk work. Left subclavian angiography disclosed occlusion of the posterior circumflex humeral artery on abduction and external rotation of the arm, compatible with the previous reports of the quadrilateral space syndrome. This syndrome should be considered in patients with shoulder pain of unknown aetiology.

  6. Acute heart failure syndrome

    African Journals Online (AJOL)

    Heart failure can be defined as a clinical syndrome in which a structural or functional cardiac abnormality impairs the capacity of the ventricle to fill or eject enough blood for the requirements of the body. Acute heart failure syndrome represents a complex, heterogeneous set of clinical conditions, all with the common.

  7. MECP2 Duplication Syndrome

    DEFF Research Database (Denmark)

    Signorini, Cinzia; De Felice, Claudio; Leoncini, Silvia

    2016-01-01

    Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress has been previously documented in RTT patients...

  8. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  9. Miller–Fisher syndrome

    Directory of Open Access Journals (Sweden)

    Anna Vladimirovna Kraeva

    2013-01-01

    Full Text Available Miller–Fisher syndrome is a rare variant of acute inflammatory demyelinating polyneuropathy. The paper describes a case of Miller–Fisher syndrome developing as ophthalmoplegia, ataxia, and areflexia one week after acute respiratory viral infection. Within 3 weeks, neurological disorders completely regressed due to a plasmapheresis session and intravenous immunoglobulin injection.

  10. Sheehan's Syndrome (Postpartum Hypopituitarism)

    Science.gov (United States)

    ... in developing countries. Treatment of Sheehan's syndrome involves lifelong hormone replacement therapy. Symptoms Signs and symptoms of Sheehan's syndrome typically appear slowly, after a period of months or even years. But sometimes problems appear right away, such as the inability to ...

  11. Taurodontism and Klinefelter's syndrome.

    Science.gov (United States)

    Komatz, Y; Tomoyoshi, T; Yoshida, O; Fujimoto, A; Yoshitake, K

    1978-01-01

    The incidence of taurodontism in 31 patients with XXY Klinefelter's syndrome was studied. Taurodont molars were observed in 6 of the 31 cases (19.4%), a significantly higher rate than among the controls. Though taurodontism is not an obligatory finding in Klinefelter's syndrome, it is believed to be one of the anomalies frequently observed in connection with this condition. Images PMID:745217

  12. Second-Impact Syndrome

    Science.gov (United States)

    Cobb, Sarah; Battin, Barbara

    2004-01-01

    Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

  13. Prader-Willi syndrome

    Science.gov (United States)

    ... can help a child with Prader-Willi syndrome gain muscle. Growth hormone is used to treat Prader-Willi syndrome. It can help: Build strength and agility Improve height Increase muscle mass and decrease body fat Improve weight distribution Increase ...

  14. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  15. Reye Syndrome and Aspirin

    OpenAIRE

    J Gordon Millichap

    1987-01-01

    Twenty-six cases of Reye syndrome occurring between 1973 and 1982 have been reviewed in relation to aspirin ingestion at the Children’s Hospital, Camperdown, Australia (formerly the Royal Alexandra Hospital for Children in Sydney), where Reye first described his syndrome of encephalopathy and fatty degeneration of the viscera in 1963.

  16. Prader-Willi Syndrome

    Science.gov (United States)

    ... Behavioral problems can interfere with family functioning, successful education and social participation. They can also reduce the quality of life for children, teenagers and adults with Prader-Willi syndrome. Prevention If you have a child with Prader-Willi syndrome and would like to ...

  17. SHORT RIB POLYDACTYLY SYNDROME

    Directory of Open Access Journals (Sweden)

    Z Moinfar

    2007-09-01

    Full Text Available Short rib polydactyly syndrome (SRPS is a very rare congenital anomaly that is classified into four subtypes. It is an autosomal recessive inherited disease. We report a case of this syndrome without a previous family history of congenital defects.

  18. Chronic fatigue syndrome

    African Journals Online (AJOL)

    Committee for Science and Education, Medical. Association of South Africa. Objective. To acknowledge the dinical syndrome chronic fatigue syndrome (CFS) and outline the diagnostic criteria and reasonable management. Outcomes. Attempt at containment of treatmentcost and improvement of the quality of care of patients ...

  19. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  20. Bodily Distress Syndrome

    DEFF Research Database (Denmark)

    Budtz-Lilly, Anna; Vestergaard, Mogens; Moth, Grete

    2011-01-01

    AIM: Medically unexplained or functional symptoms and disorders are common in primary care. Empirical research has proposed specific criteria for a new unifying diagnosis for functional disorders and syndromes: Bodily Distress Syndrome (BDS). This new diagnosis is expected to be integrated...

  1. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  2. Barth Syndrome (BTHS)

    Science.gov (United States)

    ... All Disorders Barth Syndrome Information Page Barth Syndrome Information Page What research is being done? The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the ...

  3. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous

  4. Goldenhar syndrome: ocular features.

    Science.gov (United States)

    Bhallil, S; Benatiya, I; El Abdouni, O; Mahjoubi, B; Hicham, T

    2010-01-01

    Goldenhar syndrome is a rare congenital anomaly which consists of a triad of an ocular dermoid cyst, preauricular skin tags and vertebral dysplasia. We report two cases of Goldenhar syndrome, diagnosed in a 4-year-old girl and in a 20-year-old young adult. The dermoid cyst is a benign tumour with serious ophthalmologic complications.

  5. Apert′s syndrome

    Directory of Open Access Journals (Sweden)

    Mukhopadhyay Amiya

    2004-03-01

    Full Text Available Apert′s syndrome (acrocephalosyndactyly is a rare congenital disorder characterized by craniosynostosis, mid-facial malformations and symmetrical syndactyly. We present a 2-month-old girl having features of Apert′s syndrome, with cerebral cortical atrophy and bifurcation of the right first metatarsal base, a hitherto undescribed finding.

  6. [Moebius syndrome and narcolepsy].

    Science.gov (United States)

    Krämer, S; Goldammer, U; Sindern, E

    2014-12-01

    Moebius syndrome is a rare neurological disease that has a frequent association with parasomnia. We report on a patient with Moebius syndrome and the clinical presentation of a narcolepsy cataplexy syndrome. With the hypoplasia of the brainstem in the cranial magnetic resonance imaging, we were able to show the morphological correlate of Moebius syndrome. Comorbidity was detected by cognitive tests, polysomnography and detection of hypocretin in the cerebrospinal fluid. Despite normal sleep onset latency and only one episode of sleep onset rapid eye movement (REM) in the multiple sleep latency test, where expressiveness is significantly reduced in cases of paralysis of horizontal eye movement, the diagnosis of parasomnia with narcolepsy cataplexy symptoms could be made. The hypocretin level of 132 pg/ml measured in the cerebro spinal fluid is compatible with this diagnosis and shows the relevance of a detailed diagnostic of parasomnia in patients with Moebius syndrome.

  7. [Schizophrenia or Asperger syndrome?].

    Science.gov (United States)

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning.

  8. [Psychopharmacology and metabolic syndrome].

    Science.gov (United States)

    Telles-Correia, Diogo; Guerreiro, Diogo F; Coentre, Ricardo; Coentre, Rui; Góis, C; Figueira, Luísa

    2008-01-01

    Metabolic Syndrome consists in a group of metabolic changes, being the most important problem insulin resistence. Other important components of this syndrome are abdominal obesity, hypertension and hyperlipidemia /hypercholestrolemia. It was demonstrated that psychiatric patients have a greater risk to develop metabolic syndrome with a prevalence of 41%. Prevalence of this syndrome in psychiatric male patients is 138% higher than in general population and in female patients 251% higher. Some of the factors that can explain this increase of metabolic risk in psychiatric patients are psychiatric drugs. We preformed a systematic review of literature published until June, 2007, by means of MEDLINE. Studies reviewed include clinical cases, reviews, analytic and observational studies. We selected 72 articles. Authors pretend to understand the mechanisms, by which, different psychiatric drugs can influence metabolic syndrome, and strategies for prevention of this situation.

  9. Haim-Munk syndrome

    Directory of Open Access Journals (Sweden)

    Pahwa Priyanka

    2010-01-01

    Full Text Available Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, such as Papillon-Lefθvre syndrome and prepubertal periodontitis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features of Haim-Munk syndrome.

  10. Eisenmenger Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available Abstract Eisenmenger syndrome is very rare in pregnant women. Debates remain concerning the management of Eisenmenger syndrome in this patient population and the prognosis is unclear in terms of maternal and fetoneonatal outcomes. Epidural analgesia is preferred for Cesarean section as it alleviates perioperative pain and reduces the pulmonary and systemic vascular resistances. Maternal mortality in the presence of Eisenmenger syndrome is reported as 30-50% and even up to 65% in those with Cesarean section. The major causes of death could be hypovolemia, thromboembolism and preeclampsia. Pregnancy should ideally be avoided in a woman with Eisenmenger syndrome concerning the high maternal mortality rate and probable poor prognosis of the baby. A short labour and an atraumatic delivery under epidural block are preferred in the women with a strong desire of pregnancy. The purpose of this article is to discuss the debates of Eisenmenger syndrome in pregnancy and the possible resolutions.

  11. Scleroderma overlap syndrome.

    Science.gov (United States)

    Balbir-Gurman, Alexandra; Braun-Moscovici, Yolanda

    2011-01-01

    Overlap syndrome is an entity that satisfies the criteria of at least two connective tissue diseases (CTD). These conditions include systemic sclerosis (SSc), dermatomyositis or polymyositis, Sjogren's syndrome, rheumatoid arthritis and systemic lupus erythematosus. A combined pathology has impact on the clinical features, diagnosis and treatment. To analyze the features of SSc patients with overlap syndrome registered in the European (EUSTAR) database at our center and to review the literature focusing on clinical and diagnostic issues and new treatments. We studied the medical records of 165 consecutive SSc patients and reviewed cases with scleroderma overlap syndrome. A PubMed search for the period 1977 to 2009 was conducted using the key words "overlap syndrome", "systemic sclerosis", "connective tissue disease" and "biological agents." Forty patients satisfied the criteria for scleroderma overlap syndrome. The incidence of additional connective tissue diseases in the whole group and in the overlap syndrome group respectively was: dermatomyositis or polymyositis 11.5% and 47.5%, Sjogren's syndrome 10.3% and 42.5%, rheumatoid arthritis 3.6% and 15.4%, and systemic lupus erythematosus 1.2% and 5.0%. Coexistence of SSc and another CTD aggravated the clinical course, especially lung, kidney, digestive, vascular and articular involvement. Coexisting non-rheumatic complications mimicked SSc complications. An additional rheumatic or non-rheumatic disease affected treatment choice. The definition of scleroderma overlap syndrome is important, especially in patients who need high-dose corticosteroids for complications of a CTD. The use of novel biological therapies may be advocated in these patients to avoid the hazardous influences of high-dose steroids, especially renal crisis. In some overlap syndrome cases, biological agents serve both conditions; in others one of the conditions may limit their use. In the absence of formal clinical trials in these patients a

  12. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  13. Hypereosinophilic syndrome mimicking acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Pulkit Chhabra

    2017-01-01

    Full Text Available Hypereosinophilic syndrome (HES is a heterogeneous group of disorders with peripheral blood hypereosinophilia and eosinophil-mediated organ involvement. It may be primary, secondary, or idiopathic. In very rare cases, HES can be familial occurring as an autosomal dominant disorder. Cardiac involvement usually presents as heart failure, intracardiac thrombus, arrhythmias, and rarely as acute coronary syndrome (ACS and is a major cause of morbidity and mortality. Cardiac magnetic resonance imaging has emerged as a diagnostic modality in diagnosis of eosinophilic endomyocardial disease. We report a case of a young male with familial HES presenting as ACS and discuss diagnostic and therapeutic clinical management.

  14. Down syndrome, RASopathies, and other rare syndromes.

    Science.gov (United States)

    Kratz, Christian P; Izraeli, Shai

    2017-04-01

    In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

    Directory of Open Access Journals (Sweden)

    Azadeh Mashayekhi

    2016-01-01

    Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.

  16. Polycystic Ovary Syndrome (For Teens)

    Science.gov (United States)

    ... Help? Talking to Your Parents - or Other Adults Polycystic Ovary Syndrome KidsHealth > For Teens > Polycystic Ovary Syndrome Print A ... en español Síndrome de ovario poliquístico What Is Polycystic Ovary Syndrome? Polycystic (pronounced: pol-ee-SISS-tik) ovary syndrome ( ...

  17. The Source for Syndromes 2.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

  18. [PATHOPHYSIOLOGY OF THE CARDIORENAL SYNDROME].

    Science.gov (United States)

    Balint, I; Vučak, J; Bašić-Marković, N; Klarić, D; Šakić, V Amerl

    2016-12-01

    Cardiorenal syndrome, a complex pathophysiological disorder of both the heart and kidneys, is a condition in which acute or chronic damage to one organ can lead to acute or chronic dysfunction of the other organ. Depending on primary organ dysfunction and disease duration, there are five different types of cardiorenal syndrome. Type 1 cardiorenal syndrome (acute cardiorenal syndrome) is defined as acute kidney injury caused by sudden decrease in heart function. Type 2 cardiorenal syndrome (chronic cardiorenal syndrome) refers to chronic kidney disease linked to chronic heart failure. Type 3 cardiorenal syndrome (acute renocardial syndrome) is caused by acute kidney injury that leads to heart failure. Type 4 cardiorenal syndrome (chronic renocardial syndrome) includes chronic heart failure due to chronic kidney disease. Type 5 cardiorenal syndrome (secondary cardiorenal syndrome) is reversible or irreversible condition marked by simultaneous heart and kidney insufficiency, as a result of multiorgan disease such as sepsis, diabetes mellitus, sarcoidosis, amyloidosis, etc. The pathophysiological patterns of cardiorenal syndrome are extremely complicated. Despite numerous publications, perplexed physiological, biochemical and hormonal disturbances as parts of the main pathogenic mechanisms of cardiorenal syndrome remain obscure. Even though there are guidelines for the treatment of patients with heart failure and chronic kidney disease, similar guidelines for the treatment of cardiorenal syndrome are lacking. In everyday practice, it is crucial to diagnose cardiorenal syndrome and use all diagnostic and therapeutic procedures available to prevent or alleviate kidney and heart failure.

  19. A case of goldenhar's syndrome

    OpenAIRE

    Atabey, A.; Barutçu, A.

    1992-01-01

    Goldenhar's syndrome (Goldenhar-Gorlin syndrome, facioauricuiovertebral sequence, oculoauriculoverteb- ral dysplasia) is a variant of craniofacial microsomia (first and second branchial arch syndrome). It is generally characterized by epibulbar dermoids and/or lipo- dermoids, pretragal blinded fistulas, skin tags on the cheek and vertebral anomalies. A 24-year-old female patient with Goldenhar's syndrome was presented in this paper.

  20. The Marfan syndrome genetics

    Directory of Open Access Journals (Sweden)

    Galina Pungerčič

    2005-05-01

    Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

  1. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  2. Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

  3. Personality and metabolic syndrome.

    Science.gov (United States)

    Sutin, Angelina R; Costa, Paul T; Uda, Manuela; Ferrucci, Luigi; Schlessinger, David; Terracciano, Antonio

    2010-12-01

    The prevalence of metabolic syndrome has paralleled the sharp increase in obesity. Given its tremendous physical, emotional, and financial burden, it is of critical importance to identify who is most at risk and the potential points of intervention. Psychological traits, in addition to physiological and social risk factors, may contribute to metabolic syndrome. The objective of the present research is to test whether personality traits are associated with metabolic syndrome in a large community sample. Participants (N = 5,662) from Sardinia, Italy, completed a comprehensive personality questionnaire, the NEO-PI-R, and were assessed on all components of metabolic syndrome (waist circumference, triglycerides, high-density lipoprotein cholesterol, blood pressure, and fasting glucose). Logistic regressions were used to predict metabolic syndrome from personality traits, controlling for age, sex, education, and current smoking status. Among adults over age 45 (n = 2,419), Neuroticism and low Agreeableness were associated with metabolic syndrome, whereas high Conscientiousness was protective. Individuals who scored in the top 10% on Conscientiousness were approximately 40% less likely to have metabolic syndrome (OR = 0.61, 95% CI = 0.41-0.92), whereas those who scored in the lowest 10% on Agreeableness were 50% more likely to have it (OR = 1.53, 95% CI = 1.09-2.16). At the facet level, traits related to impulsivity and hostility were the most strongly associated with metabolic syndrome. The present research indicates that those with fewer psychological resources are more vulnerable to metabolic syndrome and suggests a psychological component to other established risk factors.

  4. Paraneoplastic endocrine syndromes.

    Science.gov (United States)

    Dimitriadis, Georgios K; Angelousi, Anna; Weickert, Martin O; Randeva, Harpal S; Kaltsas, Gregory; Grossman, Ashley

    2017-06-01

    The majority of neoplasms are responsible for symptoms caused by mass effects to surrounding tissues and/or through the development of metastases. However, occasionally neoplasms, with or without endocrine differentiation, acquire the ability to secrete a variety of bioactive substances or induce immune cross-reactivity with the normal tissues that can lead to the development of characteristic clinical syndromes. These syndromes are named endocrine paraneoplastic syndromes when the specific secretory components (hormones, peptides or cytokines) are unrelated to the anticipated tissue or organ of origin. Endocrine paraneoplastic syndromes can complicate the patient's clinical course, response to treatment, impact prognosis and even be confused as metastatic spread. These syndromes can precede, occur concomitantly or present at a later stage of tumour development, and along with the secreted substances constitute the biological 'fingerprint' of the tumour. Their detection can facilitate early diagnosis of the underlying neoplasia, monitor response to treatment and/or detect early recurrences following successful initial management. Although when associated with tumours of low malignant potential they usually do not affect long-term outcome, in cases of highly malignant tumours, endocrine paraneoplastic syndromes are usually associated with poorer survival outcomes. Recent medical advances have not only improved our understanding of paraneoplastic syndrome pathogenesis in general but also enhanced their diagnosis and treatment. Yet, given the rarity of endocrine paraneoplastic syndromes, there is a paucity of prospective clinical trials to guide management. The development of well-designed prospective multicentre trials remains a priority in the field in order to fully characterise these syndromes and provide evidence-based diagnostic and therapeutic protocols. © 2017 Society for Endocrinology.

  5. Genetics of Polycystic Ovary Syndrome

    OpenAIRE

    Prapas, N; Karkanaki, A; Prapas, I; Kalogiannidis, I; Katsikis, I; Panidis, D

    2009-01-01

    Polycystic ovary syndrome (PCOS) is a syndrome involving defects in primary cellular control mechanisms that result in the expression of chronic anovulation and hyperandrogenism. This syndrome has been for many years one of the most controversial entities in gynecological endocrinology. Polycystic ovary syndrome has been proven to be a familial condition. Although the role of genetic factors in PCOS is strongly supported, the genes that are involved in the etiology of the syndrome have not be...

  6. Mobious syndrome: MR findings

    Directory of Open Access Journals (Sweden)

    Maskal Revanna Srinivas

    2016-01-01

    Full Text Available Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.

  7. Cotard's syndrome: a review.

    Science.gov (United States)

    Debruyne, Hans; Portzky, Michael; Van den Eynde, Frédérique; Audenaert, Kurt

    2009-06-01

    Cotard's syndrome is a rare disorder in which nihilistic delusions concerning one's own body are the central feature. It is not listed as a specific disorder in the DSM-IV, as it is typically viewed as a part of other underlying disorders. However, it remains important to recognize the syndrome because specific underlying mechanisms are present, and prognostic and therapeutic consequences have to be taken into account. This review presents an up-to-date overview of Cotard's syndrome, which was initially described more than a century ago.

  8. Dostoevsky and Stendhal's syndrome.

    Science.gov (United States)

    Amâncio, Edson José

    2005-12-01

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

  9. Anton's syndrome and eugenics

    DEFF Research Database (Denmark)

    Kondziella, Daniel; Frahm-Falkenberg, Siska

    2011-01-01

    Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions...... to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works...... of Gabriel Anton into their historic context....

  10. Recurrent Miller Fisher syndrome.

    Science.gov (United States)

    Madhavan, S; Geetha; Bhargavan, P V

    2004-07-01

    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

  11. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    M K Sunil

    2010-01-01

    Full Text Available Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts, and musculoskeletal malformation. It is occasionally associated with aggressive basal cell carcinoma and internal malignancies. It is about a muttisystemic process characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri. Hence, present a case report and a review of Gorlin-Goltz syndrome.

  12. [The Reye syndrome].

    Science.gov (United States)

    Tanret, I; Duh, D

    2011-03-01

    The Reye syndrome is a complex disease that remains little-known despite its severity. It can occur in children of all ages, and is often fatal, while surviving children often display neurological damage. The therapy is symptomatic and supportive. The diagnosis of Reye's syndrome is not straightforward, as the symptoms are very diverse. The causes of the disease are moreover still unclear, and, after many years of discussion and research, it can still not be proved irrefutably whether administration of acetylsalicylic acid to children suffering from viral infections is a factor in the development of Reye's syndrome.

  13. Gardner′s Syndrome

    Directory of Open Access Journals (Sweden)

    Sapna Panjwani

    2011-01-01

    Full Text Available Gardner′s syndrome is an autosomal dominant disease and is a subtype of familial adenomatous polyposis. It is characterized by adenomatous intestinal polyps, multiple osteomas in the skull, maxillae, mandible, and multiple cutaneous and subcutaneous masses (epidermoids and desmoid. Intestinal polyps, if not treated, have 100% chance of becoming malignant. We report a case of a 25-year-old female patient with Gardner′s syndrome, with clinical manifestations including impacted supernumerary teeth, odontomes, sebaceous cyst on the scalp, and osteomas. It is important for the general dental practitioners to be aware of the clinical and radiological characteristics of Gardner′s syndrome.

  14. Treatment in Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-03-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occur after mild traumatic brain injury. These symptoms usually recover fully within 3-6 months almost in 90% of patients. Persistent post-concussion symptoms could occur in 10% of patients. Diagnosis is based on the subjective complaints and the treatment of the syndrome is mainly of palliative nature. The patient should be educated about the nature and outcome of the syndrome and reassured that almost all symptoms recover fully within 3-6 months. Multifaceted rehabilitation programs and cognitive behavioral therapy could be beneficial. Pharmacotherapy and somatic therapy are other options for persistent symptoms.

  15. Mowat-Wilson syndrome

    DEFF Research Database (Denmark)

    Engenheiro, E; Møller, R S; Pinto, M

    2008-01-01

    Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115...... different mutations of ZEB2 have been published in association with this syndrome in 161 individuals. However, recent reports suggest that due to the variability of the congenital abnormalities, this syndrome may still be underdiagnosed. We report two unrelated patients with MWS where the clinical diagnosis...

  16. LEOPARD-syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Risby, Kirsten; Bygum, Anette

    2009-01-01

    We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD sy...... syndrome. We discuss the clinical characteristics of LS, the need for follow-up and genetic counselling, and the molecular-genetic background as well as the relationship to the allelic disease Noonan syndrome. Udgivelsesdato: 2009-Jan-26...

  17. [Paroxysmal upgaze deviation syndrome].

    Science.gov (United States)

    Sousa, Leandro; Gonorazky, Sergio

    2010-10-01

    In 1988, Ouvrier and Billson described four children with a condition they termed "benign paroxysmal tonic upgaze syndrome". The clinical picture is characterized by the appearance, in the first months of life, of episodes of paroxysmal upgaze deviation of varying duration, and without alteration of consciousness. Fixation nystagmus is observed when trying to look down. Episodes disappear during sleep. The neurological examination is usually normal, except for mild ataxia. In its idiopatic way, the syndrome tends to spontaneous recovery, but secondary types with different evolution should be rule out. We report two patients, one with Down Syndrome, and we analyze clinical aspects, evolution and differential diagnosis.

  18. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... make CTS better and help relieve symptoms. Massage, yoga, ultrasound, chiropractic manipulation, and acupuncture are just a ... tunnel syndrome > A-Z Health Topics Related information Menopause Pregnancy The javascript used in this widget is ...

  19. Chronic fatigue syndrome

    National Research Council Canada - National Science Library

    Gonthier, Ariane; Favrat, Bernard

    2015-01-01

    Chronic fatigue syndrome (CFS) is a debilitating disorder, characterized by a severe, persistant and unexplained fatigue, which can be associated with diffuse pain, sleep difficulties, neurocognitive and neurovegetative troubles...

  20. Muir-Torre Syndrome

    Science.gov (United States)

    ... With a Genetic Counselor Collecting Your Family Cancer History Sharing Genetic Test Results with Your Family Additional Resources Colon Cancer Alliance www.ccalliance.org Lynch Syndrome International www. ...