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Sample records for progeria syndrome patients

  1. 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.

  2. 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.

  3. 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.

  4. 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...

  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. 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.

  7. 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.

  8. 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

  9. Genetics Home Reference: Hutchinson-Gilford progeria syndrome

    Science.gov (United States)

    ... 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 ...

  10. 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.

  11. 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.

  12. Lethal neonatal Hutchinson-Gilford progeria syndrome.

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    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.

  13. 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.)

  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. 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.

  16. 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.

  17. 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.

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

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    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

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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.

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

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    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.

  5. 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.

  6. 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.

  7. 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.

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

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    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...

  9. 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.

  10. 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

  11. 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

  12. 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.

  13. 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.

  14. 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

  15. 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

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

    Science.gov (United States)

    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

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

    Energy Technology Data Exchange (ETDEWEB)

    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.).

  18. 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

  19. 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

  20. 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.

  1. Protective mechanism against cancer found in progeria patient cells

    Science.gov (United States)

    NCI scientists have studied cells of patients with an extremely rare genetic disease that is characterized by drastic premature aging and discovered a new protective cellular mechanism against cancer. They found that cells from patients with Hutchinson Gi

  2. 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.

  3. 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

  4. 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,

  5. 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...

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

    OpenAIRE

    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...

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

    Directory of Open Access Journals (Sweden)

    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.

  8. 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.

  9. 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.

  10. Stem cell aging in adult progeria

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

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

    OpenAIRE

    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...

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

    Directory of Open Access Journals (Sweden)

    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.

  14. Progeria: A rare genetic premature ageing disorder

    Directory of Open Access Journals (Sweden)

    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.

  15. 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.

  16. 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.

  17. 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 ...

  18. 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/

  19. 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)

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  1. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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

  4. 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.

  5. 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.

  6. 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

  7. [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.

  8. 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 ...

  9. 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.

  10. 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 ...

  11. [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.

  12. Lynch syndrome: the patients' perspective

    NARCIS (Netherlands)

    Seppen, Jurgen; Bruzzone, Linda

    2013-01-01

    People with Lynch syndrome have a high lifetime risk for the development of colorectal, endometrial and several other types of cancer. Lynch syndrome is caused by germline mutations in genes encoding DNA mismatch repair proteins. In this review, issues that concern Lynch patients are highlighted

  13. Recurrent Fever Syndromes in Patients After Recovery From Kawasaki Syndrome

    Science.gov (United States)

    Tremoulet, Adriana H.; Burns, Jane C.; Bastian, John F.; Hoffman, Hal M.

    2011-01-01

    The recurrence of fever in a child with a history of Kawasaki syndrome (KS) poses a dilemma for clinicians who must consider the possibility of recurrent KS. In this report we present the cases of 4 patients who presented with classical symptoms of KS, were successfully treated with intravenous immunoglobulin, and later experienced a reappearance of inflammatory symptoms in a pattern consistent with a recurrent fever syndrome. The association of these syndromes within the same patient suggests that some patients may have a genetic propensity toward altered immune responses and autoinflammatory syndromes. We propose that these 2 syndromes exist within a family of febrile disorders related to innate immune dysregulation. PMID:21220401

  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. How Chronic Fatigue Syndrome Wears Patients Out

    Science.gov (United States)

    ... https://medlineplus.gov/news/fullstory_167452.html How Chronic Fatigue Syndrome Wears Patients Out Study suggests body amplifies fatigue ... what it's like for those who struggle with chronic fatigue syndrome, and researchers suggest in a new report that ...

  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. HELLP syndrome in a pregnant patient with Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Minhyeok Lee

    2017-03-01

    Full Text Available Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypocalciuria, and hypomagnesemia. The clinical course of Gitelman syndrome in pregnant women remains unclear, but it is thought to be benign. We report here the first Korean case of atypical eclampsia in a 31-year-old who was diagnosed with Gitelman syndrome incidentally during an antenatal screening test. The patient did well during pregnancy despite significant hypokalemia. At 33 weeks’ gestation, the patient exhibited eclampsia, hemolysis, elevated liver enzymes, low platelets (HELLP syndrome, and renal insufficiency without significant hypertension or proteinuria. We explain this unusual clinical course through a review of the relevant literature.

  18. 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...

  19. Electrolyte Imbalance in Patients with Sheehan's Syndrome

    OpenAIRE

    Chur Hoan Lim; Ji Hyun Han; Joon Jin; Ji Eun Yu; Jin Ook Chung; Dong Hyeok Cho; Dong Jin Chung; Min Young Chung

    2015-01-01

    Background We investigated the prevalence of electrolyte imbalance and the relationship between serum electrolyte and anterior pituitary hormone levels in patients with Sheehan's syndrome. Methods In a retrospective study, we investigated 78 patients with Sheehan's syndrome. We also included 95 normal control subjects who underwent a combined anterior pituitary hormone stimulation test and showed normal hormonal responses. Results In patients with Sheehan's syndrome, the serum levels of sodiu...

  20. Supernumerary teeth in non-syndromic patients

    OpenAIRE

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to ...

  1. Ophthalmic considerations in patients with Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Jeremy D. Clark

    2016-07-01

    Conclusions and importance: It is important for ophthalmologists to be aware of the ophthalmic complications associated with patients with craniosynostosis syndromes. Our case identifies the importance of close communication between ophthalmology and plastic reconstructive surgery to help formulate the most successful plan in treating corneal decompensation and proptosis in Pfeiffer Syndrome patients.

  2. 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? ...

  3. Malpuech syndrome: three patients and a review.

    NARCIS (Netherlands)

    Kerstjens-Frederikse, W.S.; Brunner, H.G.; Dael, C.M. van; Essen, A.J. van

    2005-01-01

    We describe three patients with Malpuech syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families suggests autosomal recessive inheritance. Growth retardation, mental retardation, cleft lip, and/or palate, hypertelorism, urogenital

  4. Malpuech syndrome : Three patients and a review

    NARCIS (Netherlands)

    Kerstjens-Frederikse, WS; Brunner, HG; van Dael, CML; van Essen, AJ

    2005-01-01

    We describe three patients with Malpucch syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families suggests autosomal recessive inheritance. Growth retardation, mental retardation, cleft lip, and/or palate, hypertelorism, urogenital

  5. 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

  6. 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.

  7. Dental Implants in Patients with Sjogren's Syndrome

    NARCIS (Netherlands)

    Korfage, Anke; Raghoebar, Gerry M; Arends, Suzanne; Meiners, Petra M; Visser, Anita; Kroese, Frans Gm; Bootsma, Hendrika; Vissink, Arjan

    2016-01-01

    Background: Limited evidence is available for applying dental implants in Sjogren's syndrome (SS) patients. Purpose: This study aims to retrospectively assess clinical outcome of implant therapy in a cohort of well-classified patients with SS. Materials and Methods: All SS patients attending the

  8. Intracranial aneurysms in patients with CREST syndrome.

    Science.gov (United States)

    Nakae, Ryuta; Idei, Masaru; Kumano, Kiyoshi; Okita, Shinji; Yamane, Kanji

    2009-09-01

    CREST syndrome is a variant of scleroderma characterized by calcinosis, Raynaud's phenomenon, esophageal hypomotility, sclerodactyly, and telangiectasia, and is a collagen vascular disease characterized by inflammation and fibrosis of multiple organs/tissues. Neurological and cerebrovascular abnormalities are uncommon in CREST syndrome. Here, we report two patients with CREST syndrome harboring intracranial aneurysms. A 53-year-old woman with a 6-month history of CREST syndrome had multiple intracranial aneurysms that arose from the right middle cerebral artery, the left middle cerebral artery, the choroidal segment of the left internal carotid artery, and the left anterior cerebral artery. A 64-year-old woman with a 2-year history of CREST syndrome had a fusiform aneurysm located on the insular segment of the left middle cerebral artery. These patients were treated surgically and good outcome was achieved in both cases. The pathogenesis of cerebral aneurysms associated with collagen diseases, including CREST syndrome, remains unclear. Early treatment of CREST syndrome and other collagen diseases may prevent arteritis from progressing to affect the intracranial arteries and thus reduce the occurrence of aneurysms. The prognosis for patients with collagen diseases after rupture of cerebral aneurysm seems to be poor because the multiplicity, atypical morphology, and atypical location of their aneurysms make treatment difficult. Thus, early detection and treatment are important to improve the prognosis.

  9. Electrolyte Imbalance in Patients with Sheehan's Syndrome

    Directory of Open Access Journals (Sweden)

    Chur Hoan Lim

    2015-12-01

    Full Text Available BackgroundWe investigated the prevalence of electrolyte imbalance and the relationship between serum electrolyte and anterior pituitary hormone levels in patients with Sheehan's syndrome.MethodsIn a retrospective study, we investigated 78 patients with Sheehan's syndrome. We also included 95 normal control subjects who underwent a combined anterior pituitary hormone stimulation test and showed normal hormonal responses.ResultsIn patients with Sheehan's syndrome, the serum levels of sodium, potassium, ionized calcium, magnesium, and inorganic phosphate were significantly lower than those in control subjects. The prevalence of hyponatremia, hypokalemia, hypocalcemia, hypomagnesemia, and hypophosphatemia in patients with Sheehan's syndrome was 59.0% (n=46, 26.9% (n=21, 35.9% (n=28, 47.4% (n=37, and 23.1% (n=18, respectively. Levels of sodium and ionized calcium in serum were positively correlated with levels of all anterior pituitary hormones (all P<0.05. Levels of potassium in serum were positively correlated with adrenocorticotrophic hormone (ACTH and growth hormone (GH levels (all P<0.05. Levels of inorganic phosphate in serum were positively correlated with levels of thyroid-stimulating hormone, prolactin, and GH (all P<0.05, and levels of magnesium in serum were positively correlated with delta ACTH (P<0.01.ConclusionElectrolyte imbalance was common in patients with Sheehan's syndrome. Furthermore, the degree of anterior pituitary hormone deficiency relates to the degree of electrolyte disturbance in patients with this disease.

  10. Electrolyte Imbalance in Patients with Sheehan's Syndrome.

    Science.gov (United States)

    Lim, Chur Hoan; Han, Ji Hyun; Jin, Joon; Yu, Ji Eun; Chung, Jin Ook; Cho, Dong Hyeok; Chung, Dong Jin; Chung, Min Young

    2015-12-01

    We investigated the prevalence of electrolyte imbalance and the relationship between serum electrolyte and anterior pituitary hormone levels in patients with Sheehan's syndrome. In a retrospective study, we investigated 78 patients with Sheehan's syndrome. We also included 95 normal control subjects who underwent a combined anterior pituitary hormone stimulation test and showed normal hormonal responses. In patients with Sheehan's syndrome, the serum levels of sodium, potassium, ionized calcium, magnesium, and inorganic phosphate were significantly lower than those in control subjects. The prevalence of hyponatremia, hypokalemia, hypocalcemia, hypomagnesemia, and hypophosphatemia in patients with Sheehan's syndrome was 59.0% (n=46), 26.9% (n=21), 35.9% (n=28), 47.4% (n=37), and 23.1% (n=18), respectively. Levels of sodium and ionized calcium in serum were positively correlated with levels of all anterior pituitary hormones (all PElectrolyte imbalance was common in patients with Sheehan's syndrome. Furthermore, the degree of anterior pituitary hormone deficiency relates to the degree of electrolyte disturbance in patients with this disease.

  11. Supernumerary teeth in non-syndromic patients.

    Science.gov (United States)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-03-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  12. Supernumerary teeth in non-syndromic patients

    Energy Technology Data Exchange (ETDEWEB)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  13. Investigating hyperventilation syndrome in patients suffering from empty nose syndrome.

    Science.gov (United States)

    Mangin, David; Bequignon, Emilie; Zerah-Lancner, Francoise; Isabey, Daniel; Louis, Bruno; Adnot, Serge; Papon, Jean-François; Coste, André; Boyer, Laurent; Devars du Mayne, Marie

    2017-09-01

    Patients with empty nose syndrome (ENS) following turbinate surgery often complain about breathing difficulties. We set out to determine if dyspnea in patients with ENS was associated with hyperventilation syndrome (HVS). We hypothesized that lower airway symptoms in ENS could be explained by HVS. Observational prospective study. All consecutive patients referred to our center for ENS over 1 year were invited to participate. Patients completed the Nijmegen score and underwent a hyperventilation provocation test (HVPT) and arterial blood gas and cardiopulmonary tests. HVS was defined by a delayed return of the end-tidal partial pressure of carbon dioxide in the expired gas to baseline during HVPT. Patients with HVS were asked to complete the Sinonasal Outcome Test (SNOT)-16 questionnaire before and after a specific eight-session respiratory rehabilitation program. Twenty-two of the 29 patients referred for ENS during the study period were eligible for inclusion and underwent a complete workup. HVS was diagnosed in 17 of these patients (77.3%). In the five patients who completed the SNOT-16, the score was significantly lower after rehabilitation. This study suggests that HVS is frequent in patients with ENS, and that symptoms can be improved by respiratory rehabilitation. Pathophysiological links between ENS and HVS deserve to be further explored. 2b Laryngoscope, 127:1983-1988, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  14. Carpal tunnel syndrome in spinal patients

    OpenAIRE

    Zmeškalová, Petra

    2007-01-01

    The aim of this work is confirming of incidence carpal tunnel syndrom in patients with spinal cord lesion. This ailment stem from repetitive loading of hands on propulsion of mechanical wheelchair. Work contains the causes of biginning, risk factors for patients, prevention, conservative and operation therapy. Thesis involves characteristic of patient after spinal cord injury, seat and wheelchair propulsion. The practice task contains case report of patient and suggestion of therapy for her. ...

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

    Directory of Open Access Journals (Sweden)

    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.

  16. 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.

  17. Peutz-Jeghers syndrome: a patient's view.

    Science.gov (United States)

    Sugars, Stephanie

    2011-09-01

    Life with Peutz-Jeghers syndrome (PJS) is complex and demanding, affecting not only the patients, but also their family members, loved ones, and clinicians. In general, clinicians and researchers have defined the syndrome. Now, in addition, people with PJS and their caregivers use the Internet for medical research and to find others with whom to share information and support. An online support group for people interested in PJS has been an important resource since 2000. This article is meant to complement the medical literature and clinician practice by sharing knowledge gained from this group and through the author's personal experience as a PJS patient. Clinicians and researchers may benefit from a better-rounded view of the syndrome, a long list of questions and issues, and tips for future research and clinical practice. This is offered with the intent to ease suffering and improve future patient care.

  18. Terson syndrome: CT evaluation in 12 patients.

    Science.gov (United States)

    Swallow, C E; Tsuruda, J S; Digre, K B; Glaser, M J; Davidson, H C; Harnsberger, H R

    1998-04-01

    Terson syndrome may be overlooked in the acute setting and often requires ophthalmologic intervention to prevent long-term visual loss. In this syndrome, vitreous or retinal hemorrhage results from an abrupt rise in intracranial pressure, leading to retinal venous hypertension and intraocular hemorrhage. Our objective was to determine whether imaging findings could be discovered that might facilitate an earlier diagnosis. Our inpatient medical record data base for 1991-1996 listed 11 patients with Terson syndrome. The medical records of these 11 patients were reviewed retrospectively and compared with their noncontrast head CT scans and with scans of 10 control subjects. One additional case was discovered prospectively, for a total of 12 patients. Three radiologists unaware of the patients' history evaluated CT scans of the orbits for evidence of intraocular hemorrhage. CT findings in eight patients were suggestive of retinal hemorrhage manifested by a retinal crescent or nodule that was slightly hyperdense relative to the vitreous humor. There was a high degree of concordance between the retrospective and independent reviews. Retinal nodularity and crescentic hyperdensities are evident on CT scans in the majority of patients with Terson syndrome. Although findings are subtle and not present in all cases, in the setting of subarachnoid hemorrhage they suggest retinal hemorrhage and warrant detailed fundoscopic evaluation.

  19. Alagille syndrome: Review of 14 patients

    OpenAIRE

    Purnamawati S. Pujiarto; Arnold L. Smith

    2017-01-01

    Alagille syndrome (AGS) Is a common form of familial intrahepatic choleslasis, an autosomal dominant disorder due to defects in Jagged1 gene. It Is characterized by at least 3 of 5 mator features. We reviewed two groups of patients with AGS. Group 1 comprised 12 AGS patients, retrospectively studied (1995-1996), in the Gastroenterology Department, Royal Children's Hospital, Melbourne. Group 2 comprised 2 AGS patients, prospectively studied since 1999, in The Pediatric Hepatology Division, Cip...

  20. [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.

  1. BURNOUT SYNDROME IN PATIENTS WITH WORKPLACE HYPERTENSION

    Directory of Open Access Journals (Sweden)

    Yu. P. Zinchenko

    2016-01-01

    Full Text Available Aim. To study the presence, severity and qualitative characteristics of «burnout syndrome» in patients with «workplace hypertension» (WPH, in comparison with patients with essential hypertension and healthy people.Material and methods. Untreated patients with hypertension stage II, degree 1-2 (n=170; age 32-52 years; mean age 46.7Ѓ}4.1 years were examined. Group 1 included 85 patients with WPH (mean age 44.7Ѓ}4.3 years and Group 2 included 85 patients without WPH (mean age 47.4Ѓ}4.5 years. The duration of hypertension on average was 7.2Ѓ}2.6 years and was comparable in both groups. The control group included 82 healthy subjects (mean age 44.9Ѓ}3.1 years. The Russian version of the Maslach Burnout Inventory (MBI was used to diagnose «burnout syndrome».Results. Signs of «burnout syndrome» were found in the hypertensive patients of both groups. The high and medium levels of the «burnout syndrome» severity according to all three analyzed factors (emotional exhaustion, dehumanization/depersonification, and personal achievements were found in 59% of WPH patients, in 36% of hypertensive patients without WPH, and in 9% of healthy individuals. Most of WPH patients had high emotional exhaustion compared with other groups (27.5Ѓ}3.67 points vs 24.6Ѓ}4.3 and 20.1Ѓ}5.7 points in group 2, and group of healthy, respectively; p<0.05. Hypertensive men rated themselves as less successful professionally in comparison with women. Hypertensive women were more prone to emotional exhaustion and dehumanization/depersonification in comparison with men. Conclusion. Signs of «burnout syndrome» were found significantly more often in hypertensive patients in both groups than in healthy people. Medium and high intensity of all forms of «burnout syndrome» occurred in patients with WPH in comparison with healthy people and hypertensive patients without WPH.

  2. [Acute carpal tunnel syndrome in a patient with Marfan syndrome].

    Science.gov (United States)

    Franke, J; Wenzel, W; Rehfuss, D; Keiner, H P; Manncke, K

    2008-05-01

    Acute carpal tunnel syndrome (ACTS) is rare and is mostly the result of fractures of the distal radius or the carpal bones. This paper gives the first report of an ACTS following contusion of the wrist as the result of an extensive haematoma of the flexor tendon sheath, which did not appear until 50 hours after the injury was sustained but then developed rapidly. The patient suffers from Marfan syndrome. This disease is associated with pathologic changes to the major vessels, and especially the aorta, and of the smaller peripheral vessels. It is assumed that the haematoma arose from an aneurysm of such a small vessel. The treatment of choice in ACTS is emergency incision of the carpal tunnel.

  3. 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

  4. Dental anomalies in patients with down syndrome

    National Research Council Canada - National Science Library

    Mari Eli Leonelli de Moraes; Luiz Cesar de Moraes; Gustavo Nogara Dotto; Patrícia Pasquali Dotto; Luis Roque de Araújo dos Santos

    2007-01-01

    ...%), suspected anodontia (10.7%), conic teeth (8.3%) and impacted teeth (5.9%). In conclusion, patients with Down syndrome presented a high incidence of dental anomalies and, in most cases, the same individual presented more than one dental anomaly...

  5. Metabolic syndrome among Ghanaian patients presenting with ...

    African Journals Online (AJOL)

    Metabolic syndrome (MetS) is a general risk factor for cardiovascular and chronic kidney disease (CKD) in Western populations. This study assessed the relationship between MetS and its compo-nents in Ghanaian patients presenting with CKD. The study population comprised of 146 non-dialysed individuals with CKD with ...

  6. Barth syndrome in a female patient

    NARCIS (Netherlands)

    Cosson, Laure; Toutain, Annick; Simard, Gilles; Kulik, Willem; Matyas, Gabor; Guichet, Agnès; Blasco, Hélène; Maakaroun-Vermesse, Zoha; Vaillant, Marie-Catherine; Le Caignec, Cédric; Chantepie, Alain; Labarthe, François

    2012-01-01

    Background: Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in the remodeling of cardiolipin. Loss of cardiolipin

  7. Abdominal Compartment Syndrome in Surgical Patients | Muturi ...

    African Journals Online (AJOL)

    Background: The deleterious effects of intraabdominal hypertension and abdominal compartment syndrome, affect almost every system. Patients at risk are the critically ill, in whom it leads to alteredorgan perfusion and end organ dysfunction/failure. The five cases reported highlight the diagnostic and management ...

  8. Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

    Science.gov (United States)

    Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

    2015-11-01

    Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Theophylline effects in patients with syndrome X

    Directory of Open Access Journals (Sweden)

    Sadeghian H

    2000-08-01

    Full Text Available A role of adenosine in pathogenesis of syndrome X has recently been postulated. Previous studies suggest that aminophylline (An adenosine receptor blocker improves exercise tolerance in this disorder. Present study was performed to examine the efficacy of Theophylline in syndrome X and to determine the incidence of cardiovascular risk factors and clinical, ECG and angiographic findings in these patients. 31 patients were studied. The first 16 patients received Theophylline. Other 15 cases received placebo. Exercise tolerance test was repeated after 1-2 weeks. Patients who received Theophylline had increase in rate-pressure product at peak exercise and decrease in symptoms during exercise, but stage of st depression, global and peak st depression, exercise tolerance and persistence of st depression more than 3 minutes in recovery and symptoms of patients in general were not significant different. Theophylline has a favorable effect on exercise, reduces chest pain and rate-pressure product at peak exercise in patients with syndrome X, but not on other variables of exercise test.

  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. Complex regional pain syndrome in stroke patients.

    Science.gov (United States)

    Kocabas, Hilal; Levendoglu, Funda; Ozerbil, Onder Murat; Yuruten, Betigul

    2007-03-01

    The objective of this study was to investigate the incidence, and the factors influencing the development, of complex regional pain syndrome-I in the upper extremity in hemiplegic patients within the first 28 weeks following a stroke. We followed up 82 stroke patients. All patients were evaluated at weeks 2, 6, 14 and 28 after suffering a stroke. Outcomes were assessed using passive range of motion of shoulder, presence of subluxation, Ashworth score, Motricity index arm score, Brunnstrom stages and depression score. The incidence of complex regional pain syndrome-I was 48.8% in the first 28 weeks. Significant correlation was found between complex regional pain syndrome-I and the presence of subluxation, Ashworth score, Motricity index arm score, Brunnstrom stage and depression score (r=0.259, P=0.019; r=0.271, P=0.014; r=-0.393, Pspasticity of shoulder muscles and muscle strength. In order to prevent the development of complex regional pain syndrome-I, exercises directed at increasing the range of motion for the glenohumeral joint, strengthening shoulder muscles and reduction of spasticity will establish the integrity of the shoulder joint.

  13. Electroneurographic parameters in patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Suljo Kunić

    2014-04-01

    Full Text Available Introduction: The aim of this study was to measure electroneurographic (ENG parameters of the median and ulnar nerve in patients with metabolic syndrome and to determine whether the large imbalance in glycemic control came to neuropathic changes to the template.Methods: The study included 100 patients with metabolic syndrome diagnosed according to the criteria of the National Cholesterol Education Program - Adult Treatment Panel III (NCEP-ATP III. The patients were divided into two groups. Group I – patients with normal glycemic control and Group II - patients with diabetes mellitus for up to five years. We measured sensory conductive velocity (SCV, the amplitude of sensory nerve action potential (SNAP, motor conductive velocity (MCV, terminal motor latency (TML and compose muscle action potential after distal stimulation (CMAP-I and after proximal stimulation (CMAP-II for the ulnar and median nerve.Results: Sensory and motor parameters in Group II were amended to neuropathic pattern compared to Group I. There were significant differences in: SNAP amplitude for all tested nerves, SCV values for both left and right median and ulnar nerve; MCV and TML for left median nerve; MCV, TML and CMAP-I for right median nerve area; MCV and TML for left ulnar nerve; MCV, CMAP-I and CMAP-II for right ulnar nerve area.Conclusion: Patients with metabolic syndrome and diabetes mellitus duration of five years have the significant changes in sensory and motor peripheral nerves. Neuropathic changes are possible in patients with metabolic syndrome and normal glycemic control.

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

    DEFF Research Database (Denmark)

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

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

  15. CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

    NARCIS (Netherlands)

    Jongmans, M. C. J.; van Ravenswaaij-Arts, C. M. A.; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H. L.; van der Donk, K.; Seminara, S.; Bergman, J. E. H.; Brunner, H. G.; Crowley, W. F.; Hoefsloot, L. H.

    Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with

  16. Restless legs syndrome in patients on hemodialysis

    Directory of Open Access Journals (Sweden)

    Saleh Mohammad Yaser Salman

    2011-01-01

    Full Text Available Restless legs syndrome (RLS is common among dialysis patients, with a reported prevalence of 6-60%. The prevalence of RLS in Syrian patients on hemodialysis (HD is not known. The purpose of this study is to determine the prevalence of RLS in patients on regular HD, and to find the possible correlation between the presence of RLS and demographic, clinical, and biochemical factors. One hundred and twenty-three patients (male/female = 70/53, mean age = 41.95 ± 15.11 years on HD therapy at the Aleppo University Hospital were enrolled into the study. RLS was diagnosed based on criteria established by the International Restless Legs Syn-drome Study Group (IRLSSG. Data procured were compared between patients with and without RLS. Applying the IRLSSG criteria for the diagnosis, RLS was seen in 20.3% of the study pa-tients. No significant difference in age, gender, and intake of nicotine and caffeine was found between patients with and without the RLS. Similarly, there was no difference between the two groups in the duration of end-stage renal disease (ESRD, the period of dialysis dependence, dialysis adequacy, urea and creatinine levels, and the presence of anemia. The co-morbidities and the use of drugs also did not differ in the two groups. Our study suggests that the high prevalence of RLS among patients on HD requires careful attention and correct diagnosis can lead to better therapy and better quality of life. The pathogenesis of RLS is not clear and further studies are required to identify any possible cause as well as to discover the impact of this syndrome on sleep, quality of life, and possibly other complications such as cardiovasculare disease.

  17. [Chronic fatigue syndrome in patients with vibration disease].

    Science.gov (United States)

    Kir'iakov, V A; Saarkoppel', L M; Krylova, I V; Sukhova, A V

    2013-01-01

    The article presents study results that demonstrate chronic fatigue syndrome in patients with vibration disease. Clinical manifestations of chronic fatigue syndrome are characterized by changes in the emotional-volitional and cognitive areas. Application of nootropic drug cortexin increases the efficiency of rehabilitation in patients with vibration disease with chronic fatigue syndrome.

  18. Demodex folliculorum in polycystic ovary syndrome patients.

    Science.gov (United States)

    Benk Silfeler, D; Keskin Kurt, R; Kaya, O A; Yengil, E; Hamamci, B; Okyay, A G; Beyazit, A

    2015-04-01

    In this study, we aimed to investigate frequency of Demodex (D.) folliculorum infestation in Polycystic Ovary Syndrome patients. The study population consisted of 30 PCOS patients and 30 matched healthy control subjects admitted to the Hospital of Mustafa Kemal University, Gynecology and Obstetrics Clinic between March 2013 and January 2014. The demographic characteristics of the patients were recorded. Samples from the face region of the subjects were taken by standard method of superficial skin biopsy and evaluated by microscopy. Presence of five or more D. species in a cm2 was considered as positive. There were no significant differences in age, body mass index, diabetes mellitus incidence between PCOS patients and the control group. However, D. folliculorum infestation was found to increased in PCOS patients (n = 9; 30%) when compared to the control group (n = 2; 6, 7%) (p: 0.04). Our study results revealed that Demodex folliculorum appearance increased in PCOS patients.

  19. 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.

  20. Alagille syndrome: Review of 14 patients

    Directory of Open Access Journals (Sweden)

    Purnamawati S. Pujiarto

    2017-02-01

    Full Text Available Alagille syndrome (AGS Is a common form of familial intrahepatic choleslasis, an autosomal dominant disorder due to defects in Jagged1 gene. It Is characterized by at least 3 of 5 mator features. We reviewed two groups of patients with AGS. Group 1 comprised 12 AGS patients, retrospectively studied (1995-1996, in the Gastroenterology Department, Royal Children's Hospital, Melbourne. Group 2 comprised 2 AGS patients, prospectively studied since 1999, in The Pediatric Hepatology Division, Cipto Mangunkusumo Hospital, Jakarta. Prolonged cholestasis is the most common feature at presentation (12 patients. All these 12 subjects developed pruritus and xanthoma of varying degree. Osteopenia occured in 6 patients, 2 patients experienced fractures. AGS facies was noted In aH 14 subjects. Heart anomaty was found in 10 patients, vertebral anomaly in 6 patients, and posterior embryotoxin in 10 patients. Common additional features were growth and mental retardation in 10 and 8 patients, respectively. Liver biopsy was able to confirm the diagnosis as young as age 2 months. Death occurred in 2 patients due to liver failure and hemorrhagic pneumonia. Liver transplant was done in 1 patient due to poor quality of life (severe pruritus, xanthoma, recurrent fractures. Affected family members were strongly presumed in 8 patients. In conclusion, AGS should be considered in babies with chronic Intrahepatic cholestasls, especially it associated with pruritus. Liver biopsy Is the most sensitive diagnostic testing which will prevent unnecessary surgical intervention due to biliary atresia mimicry.

  1. Ocular symptoms and signs in patients with ectodermal dysplasia syndromes.

    Science.gov (United States)

    Kaercher, T

    2004-06-01

    The ectodermal dysplasia syndromes are underestimated although precise inclusion criteria have been formulated. The purpose is to establish easily detectable ophthalmologic symptoms and signs as reliable criteria for ectodermal dysplasia syndromes. Thirty-six patients with confirmed ectodermal dysplasia syndromes were included in an observational case series: hypohidrotic ectodermal dysplasia (30), EEC syndrome (3), AEC syndrome (2), Gorlin-Goltz syndrome (1). Each patient was examined ophthalmologically. The principal outcome measures were ocular symptoms and signs in patients with different ectodermal dysplasia syndromes of varying severity. Some 94.4% of the patients suffered from dry eye symptoms. Reduction of eyebrows was seen in 94.4%; the lashes were altered in 91.6%. Changes of the meibomian glands were detected in 95.45%. Corneal changes such as pannus occurred later in life. Alterations of the meibomian glands, which were detected by meibomianoscopy, are the most reliable ocular sign of ectodermal dysplasia syndromes.

  2. Mirror movements identified in patients with moebius syndrome.

    Science.gov (United States)

    Webb, Bryn D; Frempong, Tamiesha; Naidich, Thomas P; Gaspar, Harald; Jabs, Ethylin Wang; Rucker, Janet C

    2014-01-01

    Moebius syndrome is a rare disorder with minimum clinical criteria of congenital facial weakness in association with impairment in abduction of one or both eyes. Mirror movements are not known to be associated with Moebius syndrome. We present three patients who meet minimum criteria for a diagnosis of Moebius syndrome and who also display mirror movements. This case series suggests that Moebius syndrome may be associated with mirror movements. Further investigation to delineate the genetic etiologies of Moebius syndrome is ongoing. Patients with Moebius syndrome and mirror movements may represent a specific subclass of this disorder.

  3. Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome.

    Science.gov (United States)

    Gandhi, N M; Bennett, D H

    2004-04-01

    The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome.

  4. [Acquired immunodeficiency syndrome in pediatric patients].

    Science.gov (United States)

    Molina Moguel, J L; Ruiz Illezcas, R; Forsbach Sánchez, S; Carreño Alvarez, S; Picco Díaz, I

    1990-12-01

    The object of this study was to determine how many of the patients treated at the Pediatric Odontology Clinic, a branch of the Maxillo-Facial Surgery Service at the Veinte de Noviembre Regional Hospital, ISSSTE, are VIH-positive of show serious manifestations of Acquired Immuno-Deficiency Syndrome (AIDS). For such purpose, 100 pediatric patients suffering from different systemic or local diseases were evaluated, the most common being hematological alterations. Results evidenced the presence of VIH in the blood of five of the pediatric subjects, all suffering from Hemophilia.

  5. 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.

  6. Craniofacial abnormalities among patients with Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  7. Craniofacial abnormalities among patients with Edwards Syndrome

    Science.gov (United States)

    Rosa, Rafael Fabiano M.; Rosa, Rosana Cardoso M.; Lorenzen, Marina Boff; Zen, Paulo Ricardo G.; Graziadio, Carla; Paskulin, Giorgio Adriano

    2013-01-01

    OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. PMID:24142310

  8. Compartment syndrome in patients with haemophilia

    Science.gov (United States)

    Donaldson, James; Goddard, Nicholas

    2015-01-01

    Background Acute compartment syndrome (ACS) is an uncommon but potentially devastating condition. Methods and results There are scattered case reports and case series in the literature of ACS in persons with haemophilia (PWH), and even fewer in PWH and inhibitors. The management of compartment syndrome in these scenarios is controversial and often anecdotal. In addition haematological outcomes are frequently quoted but functional outcomes are generally overlooked. This article aims to provide an overview of ACS and its contemporary management. We also review the literature and outcomes of patients with haemophilia who develop ACS in an effort to assess the best treatment modality. Conclusion In the majority of cases ACS settles with normalisation of the clotting cascade. Specialist haematological input is mandatory before surgical intervention should be considered, especially in PWH and inhibitors. PMID:26566325

  9. Sleep apnea in patients with postpolio syndrome.

    Science.gov (United States)

    Dean, A C; Graham, B A; Dalakas, M; Sato, S

    1998-05-01

    We studied sleep architecture and sleep apnea pattern in patients with postpolio syndrome (PPS). Ten patients with clinical signs of PPS underwent polysomnographic recording for two consecutive nights. Although sleep efficiency and proportions of sleep stages were within the normal range, sleep architecture was disrupted owing to sleep apnea. Patients with bulbar involvement had more frequent sleep apnea (mean sleep apnea index, 11.09) than patients without (apnea index, 5.88). The former also had significantly more central apnea, which occurred more commonly during non-rapid-eye-movement (NREM) than rapid-eye-movement (REM) sleep, than those without bulbar signs. This finding suggests reduction in forebrain control of compromised bulbar respiratory centers during NREM sleep in PPS.

  10. Description of patients with carpal tunnel syndrome

    Directory of Open Access Journals (Sweden)

    Aydelián Jevey González

    2015-11-01

    Full Text Available A descriptive study of patients diagnosed with carpal tunnel syndrome was carried out at “Manuel Piti Fajardo” Teaching Polyclinic of Las Tunas, from January to December, 2008. The study was aimed at describing them clinically and epidemiologically. The sample was made up of 50 patients older than 14 years old, who were characterized according to: age, sex, individual pathological antecedents factors associated to the triggering of theirsymptomatology, as well as clinical signs and symptoms. The results were processed using the descriptive statistics by means of percentage analysis. The prevailing results were: female patients, for a 76%; 41 to 50 age group, for a 40%; antecedents of osteoarthrosis, for a 34%. The factor which triggered the onset of the symptoms was the occupation of office worker, for a 46%, while 4 patients (8% came to the consultation office with more than 6 months of symptom evolution.

  11. Orthodontic treatment considerations in Down syndrome patients

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    Sianiwati Goenharto

    2012-03-01

    Full Text Available Background: Down syndrome is an easily recognized congenital disease anomaly, a common autosomal chromosomal anomaly with high prevalence of malocclusion. Orthodontic treatment demand should be high but it seems difficult to be done because of specific condition of disability. Purpose: The purpose of this literature review was to discribe the orthodontic problems found in Down syndrome patients and several consideration that shoud be done to treat them. Reviews: Many studies report the high prevalence of malocclusion among people with Down syndrome. There is a greater frequency of clas III relationship, crossbite, crowding and also open bite. Several problems might appear in the treatment because of dental, medical, mental, and behavioural factor. Conclusion: It is concluded that orthodonic treatment can be performed in Down syndrome patient, although several difficulties may appear. Good consideration in mental, behavior, medical and also dental condition will influence whether the treatment will success or not. Special care and facilities will support the orthodontic treatment.Latar belakang: Sindroma Down adalah suatu kelainan congenital yang mudah dikenali, merupakan kelaian kromosom autosomal yang cukup banyak terjadi, dengan prevalensi maloklusi cukup tinggi. Seharusnya permintaan akan perawatan ortodonti juga tinggi meskipun tampaknya sulit dilakukan karena adanya kondisi ketidakmampuan/cacat yang spesifik. Tujuan: Tujuan studi pustaka ini adalah untuk menggambarkan problem perawatan ortodonti pada penderita sindroma Down dan pertimbangan apa yang sebaiknya diambil untuk mengatasi masalah tersebut. Tinjauan pustaka: Banyak penelitian melaporkan tentang prevalensi maloklusi yang tinggi pada penderita sindroma Down. Maloklusi yang sering dijumpai adalah relasi klas III, gigitan silang, berdesakan dan juga gigitan terbuka. Problem dapat terjadi saat perawatan ortodonti karena adanya faktor dental, medis, mental dan tingkah laku penderita

  12. 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

  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. Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy

    DEFF Research Database (Denmark)

    Lee, Peter A; Ross, Judith L; Pedersen, Birgitte Tønnes

    2015-01-01

    BACKGROUND: Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS patients enrolled in the NordiNet® International Outcome Study (IOS) or the A...

  15. Thalidomide in Treating Patients With Myelodysplastic Syndrome

    Science.gov (United States)

    2013-01-23

    Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes

  16. [Clinical and cellular studies in a patient with Cockayne syndrome].

    Science.gov (United States)

    Bianchi, C; Petecca, M C; Baricci, D; Lagomarsini, P; Stefanini, M

    1992-12-01

    Hypersensitivity to the lethal effect of ultraviolet light (UV) and other DNA-damaging agents has been observed in cells from patients affected by Cockayne syndrome, suggesting that this syndrome is deficient in the capability to repair damage in cellular DNA. We report a case showing the main clinical features of Cockayne syndrome in which the clinical and cellular photosensitivity described as typical for Cockayne syndrome is not present. These cytological results suggest that there is considerable clinical and cellular heterogeneity in Cockayne syndrome and that cellular sensitivity to UV might not be as essential for the diagnosis of Cockayne syndrome as previously thought.

  17. Pregnancy complications in polycystic ovary syndrome patients.

    Science.gov (United States)

    Katulski, Krzysztof; Czyzyk, Adam; Podfigurna-Stopa, Agnieszka; Genazzani, Andrea R; Meczekalski, Blazej

    2015-02-01

    Infertility is a widely disputed problem affecting patients suffering from polycystic ovary syndrome (PCOS). As a serious dysfunction, it frequently occurs in PCOS patients. It is, therefore, important to devote more attention to pregnancy in PCOS sufferers. According to various data, the risk of miscarriage in PCOS women is three times higher than the risk of miscarriage in healthy women. Unfortunately, the risk of most frequent pregnancy pathologies is also higher for PCOS patients, as gestational diabetes (GD), pregnancy-induced hypertension and pre-eclampsia, and small for gestational age (SGA) children. Impaired glucose tolerance and GD in pregnant PCOS patients occur more frequently than in healthy women. A quadruple increase in the risk of pregnancy-induced hypertension linked to arterial wall stiffness has also been observed in PCOS patients. The risk of pre-eclampsia, the most severe of all complications, is also four times higher in those suffering from PCOS. Pre-eclampsia is also more frequent in patients presenting additional risk factors accompanying PCOS, such as obesity or GD. At that point, it should be mentioned that PCOS patients are under 2.5 higher risk of giving birth to SGA children than healthy women. It appears that SGA can be linked to insulin resistance and insulin-dependent growth dysfunction. Therefore, PCOS pregnant women are patients of special obstetrical care.

  18. Bronchiectasis in a patient with CREST syndrome.

    Science.gov (United States)

    Lavie, Frédéric; Rozenberg, Sylvie; Coutaux, Anne; Koeger, Anne-Claude; Bourgeois, Pierre; Fautrel, Bruno

    2002-10-01

    Bronchiectasis is an uncommon pulmonary manifestation of systemic sclerosis (SSc). We report the case of a 70-year-old woman with CREST syndrome and vasculitis who developed multifocal symptomatic bronchiectasis. The bronchiectasis and immunosuppressive therapy precipitated severe lower respiratory tract infection, which was fatal within a few months. The concomitant occurrence of bronchiectasis and SSc raises the possibility of a pathophysiological relationship. Several hypotheses can be put forward to explain the occurrence of bronchial wall damage leading to bronchiectasis. Whatever the mechanism, cases of bronchiectasis in patients with SSc should be reported to make physicians aware of the substantial risk associated with this combination.

  19. Clinical Characteristics of Dry Eye Patients With Chronic Pain Syndromes

    NARCIS (Netherlands)

    Vehof, Jelle; Smitt-Kamminga, Nicole Sillevis; Kozareva, Diana; Nibourg, Simone A.; Hammond, Christopher J.

    PURPOSE: To investigate clinical characteristics of dry eye disease (DED) patients with a chronic pain syndrome. DESIGN: Cross-sectional. study. METHODS: Four hundred twenty-five patients of a tertiary care DED patient cohort in the Netherlands were included. Chronic pain syndromes irritable bowel

  20. Down patients with Eisenmenger syndrome : Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Marielle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label

  1. Mirror Movements Identified in Patients with Moebius Syndrome

    OpenAIRE

    Webb, Bryn D.; Frempong, Tamiesha; Naidich, Thomas P.; Gaspar, Harald; Jabs, Ethylin Wang; Rucker, Janet C

    2014-01-01

    Background Moebius syndrome is a rare disorder with minimum clinical criteria of congenital facial weakness in association with impairment in abduction of one or both eyes. Mirror movements are not known to be associated with Moebius syndrome. Case Report We present three patients who meet minimum criteria for a diagnosis of Moebius syndrome and who also display mirror movements. Discussion This case series suggests that Moebius syndrome may be associated with mirror movements. Further invest...

  2. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

    OpenAIRE

    Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J.

    2015-01-01

    Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient Introduction . Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method . We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Res...

  3. Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

    OpenAIRE

    Ali Al Kaissi; Elisabeth Zwettler; Rudolf Ganger; Simone Schreiner; Klaus Klaushofer; Franz Grill

    2013-01-01

    Background A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal?s syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. Methods In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotyp...

  4. 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.

  5. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

    Science.gov (United States)

    Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Sakurai, Masahiro; Cavé, Hélène; Verloes, Alain; Nishio, Kimio; Ohashi, Hirofumi; Kurosawa, Kenji; Okamoto, Nobuhiko; Kawame, Hiroshi; Mizuno, Seiji; Kondoh, Tatsuro; Addor, Marie-Claude; Coeslier-Dieux, Anne; Vincent-Delorme, Catherine; Tabayashi, Koichi; Aoki, Masashi; Kobayashi, Tomoko; Guliyeva, Afag; Kure, Shigeo; Matsubara, Yoichi

    2008-01-01

    Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. There is a significant clinical overlap between NS and CFC syndrome, but ectodermal abnormalities and mental retardation are more frequent in CFC syndrome. Mutations in PTPN11 and KRAS have been identified in patients with NS and those in KRAS, BRAF and MAP2K1/2 have been identified in patients with CFC syndrome, establishing a new role of the RAS/MAPK pathway in human development. Recently, mutations in the son of sevenless gene (SOS1) have also been identified in patients with NS. To clarify the clinical spectrum of patients with SOS1 mutations, we analyzed 24 patients with NS, including 3 patients in a three-generation family, and 30 patients with CFC syndrome without PTPN11, KRAS, HRAS, BRAF, and MAP2K1/2 (MEK1/2) mutations. We identified two SOS1 mutations in four NS patients, including three patients in the above-mentioned three-generation family. In the patients with a CFC phenotype, three mutations, including a novel three amino-acid insertion, were identified in one CFC patient and two patients with both NS and CFC phenotypes. These three patients exhibited ectodermal abnormalities, such as curly hair, sparse eyebrows, and dry skin, and two of them showed mental retardation. Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome.

  6. Irritable Bowel Syndrome in a Population of African Patients

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    Sylvester Chuks Nwokediuko

    2012-01-01

    Full Text Available Background. Functional dyspepsia is the prototype functional gastrointestinal disorder. This study was designed to determine its prevalence, subtypes, and risk factors associated with the subtypes. Method. Patients with upper gastrointestinal symptoms who presented for endoscopy were administered a questionnaire containing the functional dyspepsia and irritable bowel syndrome modules of the Rome III diagnostic criteria. Results. Of 192 patients who had functional dyspepsia, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes accounted for 79.2%, 62.5%, and 50%, respectively. Multivariate analysis of the risk factors showed that independent predictors of postprandial distress syndrome were alcohol and irritable bowel syndrome while irritable bowel syndrome was independent predictor of epigastric pain syndrome. Alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs were independent predictors of cooccurrence of postprandial distress syndrome and epigastric pain syndrome. Conclusion. Functional dyspepsia accounts for 62.5% of dyspepsia in a population of black African patients. Regarding symptomatology, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes account for 79.2%, 62.5%, and 50%, respectively. Risk factors for functional dyspepsia are irritable bowel syndrome, alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs.

  7. 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.

  8. Superior vena cava syndrome in hemodialysis patient

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    Azeb Molhem

    2011-01-01

    Full Text Available Obstruction of blood flow in the superior vena cava (SVC results in symptoms and signs of SVC syndrome. SVC obstruction can be caused either by invasion or external compression of the SVC by contagious pathologic processes involving the right lung, lymph nodes, and other mediastinal structures, or by thrombosis of blood within the SVC. Occasionally, both mechanisms co-exist. We hereby report a case of a 28-year-old male, Saudi patient who was diagnosed with end-stage renal disease and was maintained on regular hemodiaysis via right jugular vein dual lumen catheter for ten months. Three years later, the patient presented with signs and symptoms suggestive of SVC obstruction that was successfully managed with SVC stenting.

  9. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient.

    Science.gov (United States)

    Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J

    2015-01-01

    Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  10. Metabolic syndrome in patients with severe mental illness in Gorgan

    Science.gov (United States)

    Kamkar, Mohammad Zaman; Sanagoo, Akram; Zargarani, Fatemeh; Jouybari, Leila; Marjani, Abdoljalal

    2016-01-01

    Background: Metabolic syndrome is commonly associated with cardiovascular diseases and psychiatric mental illness. Hence, we aimed to assess the metabolic syndrome among severe mental illness (SMI). Materials and Methods: The study included 267 patients who were referred to the psychiatric unit at 5th Azar Education Hospital of Golestan University of Medical Sciences in Gorgan, Iran. Results: The mean waist circumference, systolic and diastolic blood pressure, triglyceride and fasting blood glucose levels were significantly higher in the SMI with metabolic syndrome, but the high density lipoprotein (HDL)-cholesterol was significantly lower. The prevalence of metabolic syndrome in SMI patients was 20.60%. There were significant differences in the mean of waist circumference, systolic (except for women) and diastolic blood pressure, triglyceride, HDL-cholesterol and fasting blood glucose in men and women with metabolic syndrome when compared with subjects without metabolic syndrome. The prevalence of metabolic syndrome in SMI women was higher than men. The most age distribution was in range of 30-39 years old. The most prevalence of metabolic syndrome was in age groups 50-59 years old. The prevalence of metabolic syndrome was increased from 30 to 59 years old. Conclusion: The prevalence of metabolic syndrome in patients with SMI in Gorgan is almost similar to those observed in Asian countries. The prevalence of metabolic syndrome was lower than western countries. These observations may be due to cultural differences in the region. It should be mention that the families of mental illness subjects in our country believe that their patients must be cared better than people without mental illness. These findings of this study suggest that mental illness patients are at risk of metabolic syndrome. According to our results, risk factors such as age and gender differences may play an important role in the presence of metabolic syndrome. In our country, women do less

  11. Epilepsy in patients with Angelman syndrome

    Directory of Open Access Journals (Sweden)

    Fiumara Agata

    2010-04-01

    Full Text Available Abstract Angelman syndrome (AS is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language impairment. Most of the cases are hardly diagnosed during infancy as jerky movements, the cardinal sign, appear later in childhood. AS is caused by a variety of genetic mechanisms involving the 15q 11-13 chromosome. About 70% of cases are due to a "de novo" interstitial deletion in the long arm region, arising on the maternally inherited chromosome. The diagnosis is confirmed by methylation test or by mutation analysis of UBE3A gene. The deletion phenotype is generally linked to a more severe clinical picture in that 95% of patients manifest more severe seizures, severe mental and motor retardation, dysmorphic features and microcephaly. The pathogenesis of epilepsy in AS is still not fully understood. The presence in the commonly deleted region of a cluster of genes coding for 3 subunits of the GABAa receptor complex has lead to the hypothesis that GABA neurotransmission is involved. Epilepsy, often severe and hard to control, is present in 85% of patients within the first three years of life, although less than 25% develop seizures during the first year. It was observed that febrile seizures often precede the diagnosis. Most frequent types are atypical absences, generalized tonic-clonic, atonic or myoclonic seizures, with multiple seizure types occurring in 50% of deleted patients. There is still some doubt about the association with West syndrome. The EEG abnormalities are not themselves pathognomonic of AS and both background activity and epileptic discharges vary even in the same patient with time. Nevertheless, the existence of some suggestive patterns should facilitate the early diagnosis allowing the correct genetic counselling for the family. Some drugs seems to act better than others

  12. Physical activity behaviour in patients with metabolic syndrome

    OpenAIRE

    Murer, M; Schmied, C; Battegay, E; Keller, D I

    2012-01-01

    STUDY/PRINCIPLES: Physical activity improves the clinical course of the metabolic syndrome and its risk factors. The aim of this study was to investigate the physical activity behaviour in patients with metabolic syndrome in regard to the recommendation of the Federal Offices of Public Health (BAG) and Sports (BASPO): “to exercise half an hour a day at a medium intensity.” METHODS: 47 patients with metabolic syndrome were recruited from the Outpatient Department of the Division of Internal Me...

  13. Imaging findings in a patient with eosinophilic pneumonia (Loffler's syndrome

    Directory of Open Access Journals (Sweden)

    S. Andronikou

    2005-01-01

    Full Text Available Löffler’s syndrome was initiallydescribed as a disorder characterisedby transient pulmonary infiltratesaccompanied by peripheral bloodeosinophilia in asymptomatic ormildly ill patients. Abnormal chestradiographic findings are said tooccur in 95% of patients but there areno descriptions of CT findings. Thereare many causes of this syndrome, butin developing countries the mostcommon presentation remains secondaryto the migratory larvae ofcommon intestinal helminths. Wepresent the clinical and radiologicalfeatures of a boy with clearly definedLöffler's syndrome due to larvalmigration.

  14. Alien Limb Syndrome Responsive to Amantadine in a Patient with Corticobasal Syndrome.

    Science.gov (United States)

    Gondim, Francisco de Assis Aquino; Tavares Júnior, José Wagner Leonel; Morais, Arlindo A; Sales, Paulo Marcelo Gondim; Wagner, Horta Goes

    2015-01-01

    Corticobasal syndrome (CBS) is a complex neurodegenerative disorder associated with parkinsonism and alien limb syndrome. Dressing and ideomotor apraxia were reportedly responsive to amantadine. A 79-year-old female was referred for evaluation of right hemiparesis. Neurological examination showed dementia, normal ocular movements, mild facial hypomimia, and bradykinesia with right hemiparesis. Nine years later, she developed alien limb syndrome and was diagnosed with CBS. After failure to respond to several medications, alien limb syndrome markedly improved with amantadine. To the best of our knowledge, this is the first report of a consistent response of severe, forced dystonic alien limb syndrome to amantadine in a patient with CBS.

  15. Bálint syndrome and visual allochiria in a patient with reversible cerebral vasoconstriction syndrome.

    Science.gov (United States)

    Walsh, Ryan D; Floyd, Jessica P; Eidelman, Benjamin H; Barrett, Kevin M

    2012-12-01

    Bálint syndrome (simultagnosia, optic ataxia, and ocular apraxia) is typically caused by pathology affecting the parietal-occipital regions bilaterally. Visual allochiria is an uncommonly reported symptom associated with parietal lobe pathology in which visual stimuli presented to one hemispace are transposed to the opposite side. We describe a patient with Bálint syndrome and visual allochiria whose initial brain MRI demonstrated acute infarction of the right parietal-occipital region. Repeat imaging 9 days later revealed bilateral parietal-occipital infarctions consistent with the observed clinical syndrome. Reversible cerebral vasoconstriction syndrome is introduced as a novel cerebrovascular etiology of Bálint syndrome.

  16. Pregnancy outcomes in patients with Alport syndrome.

    Science.gov (United States)

    Yefet, Enav; Tovbin, David; Nachum, Zohar

    2016-04-01

    To analyze the maternal and obstetric outcomes of patients with Alport syndrome. We describe the pregnancy course of 8 pregnancies of three family members with the autosomal dominant (the rarest) form of Alport syndrome. We also analyzed 10 previously reported pregnancies with other Alport mutations in order to explore risk factors for unfavorable obstetric outcomes and maternal renal deterioration. In 13 pregnancies (72 %), renal function did not deteriorate permanently. All of these women had pre-pregnancy mild chronic kidney disease (CKD stage G1). In all of them, only a transient increase in proteinuria was recorded and in one case there was a transient decrease in the estimated glomerular filtration rate. In four other pregnancies (22 %), renal function deteriorated following pregnancy. All of them were complicated with pre-eclampsia. One woman had pre-pregnancy CKD-G2A3 and chronic hypertension. Two women had CKD-G1A3 of whom one had pre-pregnancy proteinuria near the nephrotic range. In the fourth case, renal function deterioration was reported without information on the exact pre-pregnancy renal function. In the last case, CKD-G2 was reported after pregnancy without information on CKD stage prior to pregnancy. Severe proteinuria did not imply a permanent renal function deterioration if it developed during pregnancy. Ten pregnancies ended with preterm birth (56 %). Two stillbirths were reported (11 %); however, only one was attributed to maternal health deterioration. Data regarding pregnancy outcomes in Alport syndrome is limited. The outcome seems favorable when pre-pregnancy kidney function is normal or near normal and when chronic hypertension/pre-eclampsia is absent.

  17. Winter syndrome: An additional Egyptian patient with skeletal

    African Journals Online (AJOL)

    Rabah M. Shawky

    2015-05-08

    May 8, 2015 ... Abstract We report a 3.5 year old male child, second in order of birth of non consanguineous. Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome ...

  18. Increased Risk of Myofascial Pain Syndrome Among Patients with Insomnia.

    Science.gov (United States)

    Lin, Wei-Chen; Shen, Cheng-Che; Tsai, Shih-Jen; Yang, Albert C

    2017-08-01

    The aim of this study is to evaluate the risk of developing myofascial pain syndrome among patients diagnosed with insomnia. We conducted a population-based longitudinal study of a matched cohort with 7,895 participants (1,579 patients with insomnia and 6,316 controls) who were selected from the Taiwan National Health Insurance Research Database. The patients were observed for a maximum of 10 years to determine the incidence of newly diagnosed myofascial pain syndrome. A Cox regression analysis was performed to identify the risk factors associated with myofascial pain syndrome in patients with insomnia. During the 10-year follow-up period, 182 insomnia patients (14.9 per 1,000 person-years) and 379 controls (7.5 per 1,000 person-years) were diagnosed with myofascial pain syndrome. The incidence risk ratio of myofascial pain syndrome between the insomnia and control patients was 2.00 (95% confidence interval [CI] = 1.67-2.38, P  myofascial pain syndrome (95% CI = 1.62-2.31, P  myofascial pain syndrome in patients with insomnia. Patients with insomnia had a higher risk of developing myofascial pain syndrome than controls. This study adds to the understanding of the complex relationship between sleep disturbance and pain.

  19. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

    Directory of Open Access Journals (Sweden)

    Pedro Morgado

    2015-01-01

    Full Text Available Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient’s symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  20. Adropin Levels in Polycystic Ovary Syndrome Patients

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    Hacer Sen

    2017-01-01

    Full Text Available Aim: Polycystic ovary syndrome (PCOS is one of the most commonly observed endocrinopathies in women of reproductive age. Women with PCOS are said to have increased classic risk factors for cardiovascular disease, hypertension, dyslipidemia, diabetes, and obesity, in addition to non-classic risk factors such as an increase in C-reactive protein (CRP, homocysteine, and tumor necrosis factor-%u03B1. Adropin is a protein thought to play a role in maintaining energy homeostasis and insulin response. The aim of our study is to investigate the relationship between levels of adropin and insulin resistance in PCOS patients with insulin resistance and an increased risk of diabetes.Material and Method: Fifty-seven female patients (30 patients with PCOS and 27 healthy control subjects were enrolled in this study. All patient%u2019s body mass index and insulin resistance were calculated. The adropin levels were measured using commercial kits based on a competitive plasma EIA (enzyme immunoassay method. Results: The adropin levels in the patient group were 10.79 ng/L, while the value was 13.02 ng/L in the control group, and the difference was statistically significant (p=0.04. There was a significant negative correlation between the adropin levels and the insulin, aspartate aminotransferase (AST, triglyseride (TG, and homeostasis model assessment of insulin resistance (HOMA-IR levels (p=0.03, p=0.03, p=0.04, and p=0.02, respectively. Discussion: In our study, the adropin level which is associated with insulin resistance, was found to be decreased in patients with PCOS. We think that it would be valuable to conduct new studies for the evaluation of adropin related clinical conditions leading to insulin resistance in patients with PCOS.

  1. [Prevalence of metabolic syndrome in elderly patients].

    Science.gov (United States)

    Castro Vilela, María Elena; Quílez Pina, Raquel María; Bonafonte Marteles, José Luis; Morlanes Navarro, Teresa; Calvo Gracia, Fernando

    2014-01-01

    To determine the prevalence of metabolic syndrome (MS) according to the definitions of the National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) and the International Diabetes Federation (IDF) and its relation to cardiovascular disease (CVD) in hospitalized elderly patients. This descriptive and prospective study (February-March 2011) included 200 consecutive patients hospitalized in a Geriatric Department. Sociodemographic, clinical and biochemical data was collected. The prevalence of MS was 65% (NCEP-ATP III) and 67.5% (IDF) and was greater in women (NCEP-ATP III=72.8%, IDF=73.6%) than in men (NCEP-ATP III=50.7%; IDF=56.3%). The mean age of patients diagnosed with MS by both diagnostic criteria were similar: 84.7 years. MS was not associated with an increased prevalence of CVD. MS is highly prevalent in elderly hospitalized patients, being higher in women, with both diagnostic criteria (NCEP- ATP III and IDF). In our population the MS was not associated with an increased prevalence of CVD. Copyright © 2013 SEGG. Published by Elsevier Espana. All rights reserved.

  2. Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome

    OpenAIRE

    Gandhi, N M; Bennett, D H

    2004-01-01

    The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant...

  3. Geriatric syndromes in patients with chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Tomasz Gołębiowski

    2016-06-01

    Full Text Available The recent epidemiologic data pointed out, that the general number of patients on hemodialysis is steadily increasing, especially in group of elderly patients over 75 years old. The geriatric syndromes are a multietiological disorder related to physiological aging and partly associated with comorbid conditions. Frailty, falls, functional decline and disability, cognitive impairment and depression are main geriatric syndromes and occurs in patients with impaired renal function more often than among general population. The causes of higher prevalence of those syndromes are not well known, but uremic environment and overall renal replacement therapy may have an important impact on its progress. The patient with geriatric syndrome require comprehensive treatment as well as physical rehabilitation, psychiatric cure and support in everyday activities.Herein below we would like to review recent literature regarding to particular features of main geriatric syndromes in a group of nephrological patients.

  4. Patients with carcinoid syndrome exhibit symptoms of aggressive impulse dysregulation

    NARCIS (Netherlands)

    Russo, S; Boon, JC; Kema, IP; Willemse, PHB; den Boer, JA; Korf, J; de Vries, EGE

    2004-01-01

    Objective: Carcinoid tumors can produce excessive amounts of biogenic amines, notably serotonin. We assessed psychiatric symptoms in carcinoid patients and peripheral metabolism of tryptophan, the precursor of serotonin. Methods: Twenty consecutive patients with carcinoid syndrome underwent a

  5. Restless legs syndrome in patients on dialysis

    Directory of Open Access Journals (Sweden)

    Al-Jahdali Hamdan

    2009-01-01

    Full Text Available Restless legs syndrome (RLS is an extremely distressing problem experienced by patients on dialysis; the prevalence appears to be greater than in the general population, with a wide variation from 6.6% to 80%. The diagnosis of RLS is a clinical one, and its definition has been clarified and standardized by internationally recognized diagnostic criteria, published in 1995 by the International Restless Legs Syndrome Study Group (IRLSSG. This study was designed to find out the prevalence of RLS in Saudi patients with end-stage renal disease (ESRD on maintenance dialysis. This is a cross sectional study carried out between May and Sept 2007 at two centers, King Abdulaziz Medical City-King Fahad National Guard Hospital (KAMC-KFNGH, Riyadh and King Faisal Specialist Hospital and Research Centre (KFHRC, Jeddah, Saudi Arabia. Data were gathered on 227 Saudi patients on chronic maintenance hemodialysis or chronic peritoneal dialysis. The prevalence of RLS was measured using IRLSSG′s RLS Questionnaire (RLSQ. Potential risk factors for RLS including other sleep disorders, underlying cause of chronic renal failure, duration on dialysis, dialysis shift, biochemical tests and demographic data were also evaluated. The overall prevalence of RLS was 50.22% including 53.7% males and 46.3% females. Their mean age was 55.7 ± 17.2 years and mean duration on dialysis 40.4 ± 37.8 months. Significant predictors of RLS were history of diabetes mellitus (DM, coffee intake, afternoon dialysis, gender and type of dialysis (P= 0.03, 0.01, < 0.001, 0.05 and 0.009 respectively. Patients with RLS were found to be at increased risk of having insomnia and excessive daytime sleepiness (EDS (P= < 0.001 and 0.001, respectively. Our study suggests that RLS is a very common problem in dialysis population and was significantly associated with other sleep disorders, particularly insomnia, and EDS. Optimal care of dialysis patient should include particular attention to the diagnosis

  6. Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

    Science.gov (United States)

    Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

    2015-03-01

    Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  7. Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

    Science.gov (United States)

    Frouin, Eric; Laugel, Vincent; Durand, Myriam; Dollfus, Hélène; Lipsker, Dan

    2013-12-01

    Cockayne syndrome (CS) and cerebro-oculo-facial-skeletal (COFS) syndrome are autosomal recessive diseases that belong to the family of nucleotide excision repair disorders. Our aim was to describe the cutaneous phenotype of patients with these rare diseases. A systematic dermatologic examination of 16 patients included in a European study of CS was performed. The patients were aged 1 to 28 years. Six patients (38%) had mutations in the Cockayne syndrome A (CSA) gene, and the remaining had Cockayne syndrome B (CSB) gene mutations. Fourteen patients were classified clinically as having CS and 2 as having COFS syndrome. Photosensitivity was present in 75% of the patients and was characterized by sunburn after brief sun exposure. Six patients developed symptoms after short sun exposure through a windshield. Six patients had pigmented macules on sun-exposed skin, but none developed a skin neoplasm. Twelve patients (75%) displayed cyanotic acral edema of the extremities. Eight patients had nail dystrophies and 7 had hair anomalies. The dermatologic findings of 16 cases of CS and COFS syndrome highlight the high prevalence of photosensitivity and hair and nail disorders. Cyanotic acral edema was present in 75% of our patients, a finding not previously reported in CS.

  8. Gender differences in patients with obesity hypoventilation syndrome.

    Science.gov (United States)

    BaHammam, Ahmed S; Pandi-Perumal, Seithikurippu R; Piper, Amanda; Bahammam, Salman A; Almeneessier, Aljohara S; Olaish, Awad H; Javaheri, Shahrokh

    2016-08-01

    The role of gender and menopause in obstructive sleep apnoea is well known; however, no study has reported the impact of gender on the clinical presentation and the nocturnal respiratory events in patients with obesity hypoventilation syndrome. Therefore, this study prospectively evaluated differences in the clinical characteristics of women and men with obesity hypoventilation syndrome in a large cohort of patients with obstructive sleep apnoea. During the study period, a total of 1973 patients were referred to the sleep clinic with clinical suspicion of obstructive sleep apnoea. All patients underwent overnight polysomnography, during which time spirometry, arterial blood samples and thyroid tests were routinely obtained. Among 1973 consecutive patients, 1693 (617 women) were diagnosed with obstructive sleep apnoea, among whom 144 suffered from obesity hypoventilation syndrome (96 women). The prevalence of obesity hypoventilation syndrome among women and men was 15.6% and 4.5%, respectively (P obesity hypoventilation syndrome were significantly older than men with obesity hypoventilation syndrome (61.5 ± 11.9 years versus 49.1 ± 12.5 years, P obesity hypoventilation syndrome suffered significantly more from hypertension, diabetes and hypothyroidism. The prevalence of obesity hypoventilation syndrome was higher in post-menopausal (21%) compared with pre-menopausal (5.3%) women (P obesity hypoventilation syndrome. In conclusion, this study reported that among subjects referred to the sleep disorders clinic for evaluation of obstructive sleep apnoea, obesity hypoventilation syndrome is more prevalent in women than men, and that women with obesity hypoventilation syndrome suffer from significantly more co-morbidities. Post-menopausal women with obstructive sleep apnoea have the highest prevalence of obesity hypoventilation syndrome. © 2016 European Sleep Research Society.

  9. Research advances in traditional Chinese medicine syndromes in cancer patients.

    Science.gov (United States)

    Ji, Qing; Luo, Yun-quan; Wang, Wen-hai; Liu, Xuan; Li, Qi; Su, Shi-bing

    2016-01-01

    Traditional Chinese medicine (TCM) syndrome, also known as TCM ZHENG or TCM pattern, is an integral and essential part of TCM theory that helps to guide the design of individualized treatments. A TCM syndrome, in essence, is a characteristic profile of all clinical manifestations in one patient that can be readily identified by a TCM practitioner. In this article, the authors reviewed the presentations of TCM syndromes in seven common malignancies (liver, lung, gastric, breast, colorectal, pancreatic and esophageal cancers), the objectivity and the standardization of TCM syndrome differentiation, the evaluation of TCM syndrome modeling in cancer research, and syndrome differentiation-guided TCM treatment of cancers. A better understanding of TCM syndrome theory, as well as its potential biological basis, may contribute greatly to the clinical TCM diagnosis and the treatment of cancer.

  10. Cryoglobulinemic vasculitis in a patient with CREST syndrome.

    Science.gov (United States)

    Hurst, Rebecca L; Berianu, Florentina; Ginsburg, William W; Klein, Christopher J; Englestad, Janean K; Kennelly, Kathleen D

    2014-10-01

    Cryoglobulinemic vasculitis is a rare entity. Although it has been reported in diffuse systemic sclerosis, it has not been reported in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia (CREST) syndrome. We report a patient with cryoglobulinemic vasculitis with CREST syndrome who did not have typical clinical features of vasculitis. This 58-year-old woman presented with mild generalized weakness and a diagnosis of CREST syndrome, which included Raynaud's syndrome, dysphagia and telangiectasias. She was positive for serum cryoglobulins, which led to a sural nerve biopsy. The biopsy results were consistent with cryoglobulinemic vasculitis. Cryoglobulinemic vasculitis has not been previously reported in CREST syndrome to our knowledge. Additionally, the patient also had limited clinical symptoms. Our patient displays the importance of checking for cryoglobulins and obtaining a nerve biopsy when the serum is positive. Both of these diagnostic tests were integral for directing appropriate treatment for this patient. Copyright © 2014 Elsevier Ltd. All rights reserved.

  11. [Patient with testosterone deficit syndrome and dyslipemia].

    Science.gov (United States)

    Sola Galarza, Ignacio; López López, Borja; Llorente Abarca, Carlos

    2013-09-01

    We define dyslipemia as the abnormally elevated presence of lipids in the blood. The main ones are hypercholesterolemia (cholesterol over 240 mg/dl), hypertrigliceridemia (triglicerides level over 200 mg/dl) and hipo-alphalipoproteinemia (High density lipoproteins,also called HDL Cholesterol, below 40 mg/dl). The presence of excessive lipids contributes to arteriosclerosis and they are an independent cardiovascular risk factor. It may be primary, if they have genetic origin and they are not associated with other diseases, but in most cases they are secondary to other pathological entities such as diabetes, hypothyroidism, obesity and metabolic syndrome (MS). In our current society, sedentary lifestyle and unadequatelly hypercaloric diets are making obesity and MS prevalences grow, and their relation to dyslipemias has become tighter. Obesity is related with all the criteria for MS. But obesity is not at all synonymous of MS. On the one hand neither fat distribution is the same in all individualas nor confers the same risk. Accordingly, we know that abdominal localization of fat is related to higher intensity of insulin resistance (IR) and MS. On the other hand, it seems that certain components of MS are determined by genetic factors, since there are morbid obese persons that are metabolically healthy and other patients develop insulin resistance without obesity. So that, it seems that the excess in visceral adiposity in the presence of certain genetic factors would be the most related cause of the appearance of peripheral insulin resistance and diabetes mellitus, hyperlipidemia (increase of very low density pipoproteins (VLDL), decrease of highdensity lipoproteins (HDL) arterial hypertension, and hypogonadotropic hypogonadism, composing what we call metabolic syndrome. In this scenario, we urologists are being first-hand witnesses.On the one hand, and in relation with cardiovascular risk factors, we know that all of them, and independently,not only can produce

  12. Clinical, serological and genetic study in patients with CREST syndrome.

    Science.gov (United States)

    Akiyama, Y; Tanaka, M; Takeishi, M; Adachi, D; Mimori, A; Suzuki, T

    2000-06-01

    To assess the clinical, serological and genetic features of Japanese patients with CREST syndrome. Clinical features, autoantibodies and human histocompatibility leukocyte antigen (HLA) typing were studied in thirty patients with CREST syndrome, including 29 females and one male, with a mean age of 59.0 years (ranging from 40 to 76 years). Interstitial pneumonia on chest X-ray and renal involvement were rare. Mitral regurgitation and tricuspid regurgitation were present in 56.7% and 76.7%, respectively. Sjören's syndrome (SS) and primary biliary cirrhosis (PBC) were highly associated, however the positivity of the marker antibodies to those syndromes, such as anti-SSA, anti-SSB, anti-mitochondrial (AMA) and anti-smooth muscle autoantibodies were less frequent than that of primary SS and PBC without the other autoimmune diseases. The histological findings of PBC were all early stages in Scheuer's classification. HLA-Cw6 were associated with CREST-PBC overlap syndrome (pCREST syndrome, and the frequency of HLA-DR2 between CREST syndrome with or without PBC was significantly different (pCREST syndrome alone and CREST-PBC overlap syndrome and there were differences (the positivity of AMA and the severity of bile duct lesion) between PBC and CREST-PBC overlap syndrome.

  13. Metabolic syndrome in patients with prostate cancer

    Directory of Open Access Journals (Sweden)

    Iúri Amorim de Santana

    Full Text Available CONTEXT AND OBJECTIVE: Prostate cancer (PCa is the second most common cancer among men in Brazil. Recently, several studies have hypothesized a relationship between PCa and metabolic syndrome (MS. The aim here was to identify an association between MS and PCa. DESIGN AND SETTING: Cross-sectional study, Fundação de Beneficência Hospital de Cirurgia (FBHC and Universidade Federal de Sergipe. METHODS: Laboratory and anthropometric parameters were compared between PCa patients (n = 16 and controls (n = 16. RESULTS: The PCa patients showed significantly greater frequency of MS than did the controls (p = 0.034. Serum glucose was higher and high-density lipoprotein-cholesterol was lower than in the controls, although without significant differences. There were significant differences in blood pressure (p = 0.029 and waist-to-hip ratio (p = 0.004. Pearson linear correlation showed a positive association between waist-to-hip ratio and prostate specific antigen (r = 0.584 and p = 0.028. Comparing subgroups with and without MS among the PCa patients, significant differences (p < 0.05 in weight, height, body mass index, hip circumference and lean body mass were observed, thus showing higher central obesity in those with MS. The serum glucose values were also higher in MS patients (p = 0.006, thus demonstrating that insulin resistance has a role in MS physiopathology. CONCLUSIONS: Our study suggests that MS may exert an influence on the development of PCa. However, it would be necessary to expand the investigation field with larger sample sizes and cohorts studied, to test the hypothesis generated in this study.

  14. Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies.

    Science.gov (United States)

    Poppe, B; Van Limbergen, H; Van Roy, N; Vandecruys, E; De Paepe, A; Benoit, Y; Speleman, F

    2001-07-01

    Bloom syndrome (BS) predisposes affected individuals to a wide variety of neoplasms including hematological malignancies. Thus far, cytogenetic findings in hematological neoplasms have been reported in only a few BS patients. We present the karyotypic findings in a BS patient diagnosed with acute myeloid leukemia (AML), FAB subtype M1, and a review of the literature, showing the preferential occurrence of total or partial loss of chromosome 7 in BS patients with AML or myelodysplastic syndromes (MDS).

  15. Primary headaches in restless legs syndrome patients

    Directory of Open Access Journals (Sweden)

    Ravi Gupta

    2012-01-01

    Full Text Available Earlier studies conducted among migraineurs have shown an association between migraine and restless legs syndrome (RLS. We chose RLS patients and looked for migraine to exclude sample bias. Materials and Methods: 99 consecutive subjects of idiopathic RLS were recruited from the sleep clinic during four months period. Physician diagnosis of headache and depressive disorder was made with the help of ICHD-2 and DSM-IV-TR criteria, respectively. Sleep history was gathered. Severity of RLS and insomnia was measured using IRLS (Hindi version and insomnia severity index Hindi version, respectively. Chi-square test, one way ANOVA and t-test were applied to find out the significance. Results: Primary headache was seen in 51.5% cases of RLS. Migraine was reported by 44.4% subjects and other types of ′primary headaches′ were reported by 7.1% subjects. Subjects were divided into- RLS; RLS with migraine and RLS with other headache. Females outnumbered in migraine subgroup (χ2 =16.46, P<0.001. Prevalence of depression (χ2 =3.12, P=0.21 and family history of RLS (χ2 =2.65, P=0.26 were not different among groups. Severity of RLS (P=0.22 or insomnia (P=0.43 were also similar. Conclusion: Migraine is frequently found in RLS patients in clinic based samples. Females with RLS are prone to develop migraine. Depression and severity of RLS or insomnia do not affect development of headache.

  16. Corneal biomechanical properties of patients with pseudoexfoliation syndrome.

    Science.gov (United States)

    Yenerel, Nursal Melda; Gorgun, Ebru; Kucumen, Raciha Beril; Oral, Deniz; Dinc, Umut Asl; Ciftci, Ferda

    2011-09-01

    To assess the corneal biomechanical properties of patients with pseudoexfoliation syndrome (PEX syndrome). Fifty-two eyes of 52 patients (27 unilateral and 25 bilateral) and 42 eyes of 42 age-matched control subjects were enrolled in the study. Metrics of corneal biomechanical properties, including corneal hysteresis (CH) and corneal resistance factor (CRF), were measured with the ocular response analyzer (ORA). The ORA also determined the values of Goldmann-correlated intraocular pressure and corneal-compensated intraocular pressure. Central corneal thickness (CCT) was measured by the ORA integrated handheld ultrasonic pachymeter. The values recorded by the ORA were compared between eyes with PEX syndrome and those without PEX syndrome. Eyes with unilateral PEX syndrome and fellow eyes without PEX syndrome were also compared. The mean CH and CRF of all eyes with PEX syndrome were significantly lower than those of control eyes (P corneal-compensated intraocular pressure nor Goldmann-correlated intraocular pressure showed a statistically significant difference in both the groups. Mean CCT values also did not show significant difference. Comparison of the unilateral eyes with PEX syndrome with the apparently normal fellow eyes revealed no significant difference between the mean CCT, mean CH, and mean CRF values (P > 0.05). However, the mean corneal-compensated intraocular pressure and Goldmann-correlated intraocular pressure were relatively higher in the PEX syndrome eye (P 0.05). The CH and CRF decrease in both unilateral and bilateral PEX syndrome suggested that PEX syndrome has a weakening effect on corneal biomechanical properties. Moreover, in subjects with clinically unilateral PEX syndrome, these properties were closer to eyes with PEX syndrome than to normal control eyes.

  17. Functional Foods in Complex Treatment of Patients with Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    V.I. Pankiv

    2013-04-01

    Conclusions. Application of BioSESS in complex therapy of patients with metabolic syndrome for certain improves the indexes of lipid metabolism, reduces hyperinsulinemia and concomitant insulin resistance. The use of BioSESS in complex therapy of patients with metabolic syndrome promotes the decline of blood pressure level in day time, improvement of diastolic function of myocardium. In patients with metabolic syndrome BioSESS has useful pleiotropic effects that are manifested in the significant decrease of CRP levels in the blood by 31.2 % (p < 0.05.

  18. Metabolic syndrome: prevalence and risk factors in Korean gout patients.

    Science.gov (United States)

    Jung, Jae Hyun; Song, Gwan Gyu; Ji, Jong Dae; Lee, Young Ho; Kim, Jae-Hoon; Seo, Young Ho; Choi, Sung Jae

    2016-10-12

    We performed this study to investigate associations between metabolic syndrome, chronic kidney disease (CKD), and gout. We reviewed the medical records of 151 patients with gout at the Department of Rheumatology in Korea University Ansan Hospital. The following measures were examined: waist circumference, blood pressure, alcohol consumption, and levels of triglyceride, high density lipoprotein cholesterol, fasting serum glucose, serum uric acid (SUA), creatinine, insulin, and C-peptide. We assessed metabolic syndrome by the homeostasis model assessment of insulin resistance (HOMA-IR) index and renal function by the Modification of Diet in Renal Disease equation; patients were classified according to World Health Organization Asia-Pacific obesity criteria. The prevalence of metabolic syndrome in gout patients (50.8%) was higher than in non-gout patients. The mean SUA level was significantly higher in gout patients with metabolic syndrome (9.13 ± 3.15 mg/dL) than in gout patients without metabolic syndrome (8.14 ± 2.07 mg/dL). The mean SUA level was also significantly higher in patients with gout and CKD (9.55 ± 2.86 mg/dL) than in patients with gout but no CKD (7.74 ± 2.27 mg/dL). In gout patients, HOMA-IR was positively correlated with waist circumference (r = 0.409, p = 0.001). The prevalence of metabolic syndrome in patients with gout was 50.8%, which is higher than the prevalence in the general Korean population. Hyperuricemia in gout patients was correlated with metabolic syndrome and CKD. Insulin resistance may provide clues to better understand the relationship between metabolic syndrome, CKD, and gout.

  19. The King-Denborough syndrome in the paediatric patient.

    African Journals Online (AJOL)

    Syndromic vignettes in anaesthesia. The King-Denborough syndrome in the paediatric patient. Maharaj R. Department of Anaesthetics, Nelson R Mandela School of Medicine. Clinical Fellow, St Andrews Burns and Plastics Unit. Chelmsford, Essex, UK. Osborne IJS. Clinical Fellow, St Andrews Burns and Plastics Unit, ...

  20. Metabolic syndrome in Tunisian bipolar I patients | Ezzaher | African ...

    African Journals Online (AJOL)

    Conclusions: Bipolar patients have high prevalence of metabolic syndrome which is associated with insulin resistance and an increase of uric acid values that raise the risk of cardiovascular disease. Keywords: bipolar disorder, metabolic syndrome, uric acid, insulin resistance. African Health Sciences 2011; 11(3): 414 - 420 ...

  1. SICK SINUS SYNDROME IN PATIENTS WITH ACUTE CEREBROVASCULAR ACCIDENTS

    Directory of Open Access Journals (Sweden)

    E. K. Kazakova

    2015-01-01

    Full Text Available The article presents a clinical case of 2 patients with heart arrhythmias of the sick sinus syndrome type, who were implanted electriccardiac pacemakers in the acute period of cerebrovascular accidents. There were no cardiac complaints in the clinical manifestation, however, a comprehensive assessment confirmed the diagnosis of sick sinus syndrome.

  2. Baraitser–Winter syndrome: An additional Arab patient | Henedy ...

    African Journals Online (AJOL)

    Baraitser–Winter syndrome: An additional Arab patient. MMA Henedy, MJ Marafie, SJ Abulhasan. Abstract. An Arab child is presented herein with a phenotype that fits the rare Baraitser–Winter syndrome. Her clinical features included a unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full ...

  3. Steven Johnson syndrome in a patient with Cushing's disease.

    Science.gov (United States)

    Mustafa, N; Periyasamy, P; Kamaruddin, N

    2009-09-01

    Cushing's syndrome is a pathological condition associated with excessive cortisol production, the commonest etiology being Cushing's disease. Corticosteroids in high doses have been used in the management of Steven Johnson Syndrome (SJS) with favourable outcome. We describe a patient with Cushing's disease who developed SJS, one week after taking sperulina a product from sea-weed while waiting for transphenoidal surgery.

  4. Rivaroxaban in patients with a recent acute coronary syndrome

    DEFF Research Database (Denmark)

    Mega, Jessica L; Braunwald, Eugene; Wiviott, Stephen D

    2012-01-01

    Acute coronary syndromes arise from coronary atherosclerosis with superimposed thrombosis. Since factor Xa plays a central role in thrombosis, the inhibition of factor Xa with low-dose rivaroxaban might improve cardiovascular outcomes in patients with a recent acute coronary syndrome....

  5. Metabolic Syndrome among Type-2 Diabetic Patients in Benghazi ...

    African Journals Online (AJOL)

    Background: Metabolic syndrome is a cluster of three out of five conditions that are due to hyperinsulinemia: abdominal obesity, atherogenic dyslipidemia (high triglycerides and/or low HDL), elevated blood pressure, and elevated plasma glucose. The syndrome is highly prevalent in patients with type-2 diabetes mellitus ...

  6. Alcohol withdrawal syndrome: current management strategies for the surgery patient.

    Science.gov (United States)

    Morris, P R; Mosby, E L; Ferguson, B L

    1997-12-01

    As advances in the therapeutic management of alcohol withdrawal syndrome occur, oral and maxillofacial surgeons should be aware of the current treatment philosophies and modalities. This article provides a comprehensive review of alcohol withdrawal syndrome and presents some of the current management strategies that can be used for these patients, whether it be in the office or in the hospital.

  7. Increased Prevalence of Flammer Syndrome in Patients with Retinitis Pigmentosa.

    Science.gov (United States)

    Konieczka, K; Koch, S; Schoetzau, A; Todorova, M G

    2016-04-01

    "Retinitis pigmentosa" refers to a group of degenerative eye diseases with a genetic background. Flammer syndrome encompasses a set of symptoms and signs, mainly but not exclusively related to dysregulation of blood vessels. The purpose of the present study was to determine, with the help of a questionnaire, whether symptoms of Flammer syndrome occur more often in patients with retinitis pigmentosa than in controls. 76 patients with retinitis pigmentosa (members of the Swiss patient organization for retinitis pigmentosa) and 274 control subjects answered a questionnaire (Flammer Syndrome Questionnaire) on 15 symptoms and signs of Flammer syndrome. Seven of 15 symptoms and signs of Flammer syndrome were significantly more often positive in retinitis pigmentosa patients than in controls. Six additional symptoms and signs occurred non-significantly more often and 2 non-significantly less often in patients with retinitis pigmentosa. Retinitis pigmentosa patients suffer significantly more often from symptoms and signs of the Flammer syndrome than control subjects. This includes low body mass index, low blood pressure, feeling cold, migraine, increased smell perception and perfectionism. The reason for this association between retinitis pigmentosa and Flammer syndrome and the potential implications need to be determined. Georg Thieme Verlag KG Stuttgart · New York.

  8. Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

    DEFF Research Database (Denmark)

    Nielsen, Rie Harboe; Couppé, Christian; Jensen, Jacob Kildevang

    2014-01-01

    There is a clinical overlap between classic Ehlers-Danlos syndrome (cEDS) and benign joint hypermobility syndrome (BJHS), with hypermobility as the main symptom. The purpose of this study was to investigate the role of type V collagen mutations and tendon pathology in these 2 syndromes. In patients...... and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients....

  9. Laparoscopic adrenalectomy in patients with subclinical Cushing syndrome.

    Science.gov (United States)

    Perysinakis, Iraklis; Marakaki, Chrisanthi; Avlonitis, Spyridon; Katseli, Anastasia; Vassilatou, Evangeline; Papanastasiou, Lambrini; Piaditis, George; Zografos, George N

    2013-06-01

    Subclinical Cushing syndrome in patients with adrenal incidentalomas has been associated with an increased prevalence of the metabolic syndrome and cardiovascular risk. The management of these patients, be it conservative or surgical, is still debated, but there is accumulating evidence that surgery is best and that laparoscopic adrenalectomy, when possible, is the most preferred procedure. Here we present the short- and long-term results of laparoscopic adrenalectomy for subclinical Cushing syndrome and determine the effect of this procedure on components of the metabolic syndrome. Twenty-nine patients, 8 men and 21 women with adrenal incidentalomas and subclinical Cushing syndrome who underwent laparoscopic adrenalectomy, were studied retrospectively. They had undergone postoperative follow-up for improvement or worsening of their arterial blood pressure, body weight, and fasting glucose level for a mean period of 77 months. Preoperatively, 17 patients (58.6 %) had arterial hypertension, 14 (48.3 %) had a body mass index exceeding 27 kg/m(2), and 12 (41.4 %) had diabetes mellitus. Postoperatively, a decrease in mean arterial pressure was found in 12 patients (70.6 %), a decrease in body mass index in 6 patients (42.9 %), and an improvement in glycemic control in 5 patients (41.7 %). Laparoscopic adrenalectomy is beneficial in many patients with subclinical Cushing syndrome because it reduces arterial blood pressure, body weight, and fasting glucose levels. Prospective randomized studies are needed to compare laparoscopic adrenalectomy with a conservative approach and to confirm these results.

  10. Study on autonomic dysfunction and metabolic syndrome in Chinese patients.

    Science.gov (United States)

    Zhu, Ling; Zhao, Xiaolan; Zeng, Ping; Zhu, Jianguo; Yang, Shuwen; Liu, Annan; Song, Yuehua

    2016-11-01

    There is still a lack of simple methods and instruments for the early assessment of autonomic dysfunction in metabolic syndrome patients. Assessment of sudomotor function has been proposed to explore autonomic function, and could be used as an early biomarker for metabolic syndrome. In the present study, we use a quick and non-invasive method to measure sudomotor function, and aimed to evaluate its efficacy to identify metabolic syndrome in a Chinese population. Information on the 1,160 Chinese participants involved in the study, such as age, sex, blood pressure, waist circumference, body mass index, fasting plasma glucose and lipid profile, and SUDOSCAN, was recorded. During the sudomotor test, patients were asked to place their bare hands and feet on large electrodes. The test took 2 min to carry out, was painless and no participant preparation was required. A total of 567 participants were diagnosed with metabolic syndrome. The prevalence of metabolic syndrome correlated significantly with increasing SUDOSCAN cardiac risk score (P for trend metabolic syndrome components (P for trend metabolic syndrome (P metabolic syndrome. The role of SUDOSCAN in the screening of at-risk populations for metabolic syndrome has to be confirmed by further studies. © 2016 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.

  11. Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

    Science.gov (United States)

    Bonanni, Paolo; Casellato, Susanna; Fabbro, Franco; Negrin, Susanna

    2017-10-01

    Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission. © 2017 Wiley Periodicals, Inc.

  12. Mortality in patients with respiratory distress syndrome.

    Science.gov (United States)

    Lopez Saubidet, I; Maskin, L P; Rodríguez, P O; Bonelli, I; Setten, M; Valentini, R

    2016-01-01

    Mortality in Acute Respiratory Distress Syndrome (ARDS) is decreasing, although its prognosis after hospital discharge and the prognostic accuracy of Berlin's new ARDS stratification are uncertain. We did a restrospective analysis of hospital and 6 month mortality of patients with ARDS admitted to the Intensive Care Unit of a Univeristy Hospital in Buenos Aires, between January 2008 and June 2011. ARDS was defined by PaO2/FiO2 lower than 200 mmHg under ventilation with at least 10 cm H2O of PEEP and a FiO2 higher or equal than 0.5. and the presence of bilateral infiltrates in chest radiography, in the absence of cardiogenic acute pulmonary edema, during the first 72 hs of mechanical ventilation. Mortality associated risk factors, the use of rescue therapies and Berlin's stratification for moderate and severe ARDS patients were considered. Ninety eight patients were included; mean age was 59±19 years old, 42,9% had mayor co-morbidities; APACHE II at admission was 22±7; SOFA at day 1 was 8±3. Prone position ventilation was applied in 20,4% and rescue measures in 12,2% (12 patients with nitric oxide and 1 with extracorporeal membrane oxygenation). Hospital and 6 months mortality were 37.7 and 43.8% respectively. After logistic regression analysis, only age, the presence of septic shock at admission, Ppl >30 cmH2O, and major co-morbidities were independently associated with hospital outcome. There was no difference between moderate and severe groups (41,2 and 36,8% respectively; p=0,25). In this cohort, including patients with severe hypoxemia and high percentage of mayor co-morbidities, ARDS associated mortality was lower than some previous studies. There was no increase in mortality after hospital discharge. There was no difference in mortality between moderate and severe groups according to Berlin's definition. Copyright © 2015 Elsevier España, S.L.U. y SEMICYUC. All rights reserved.

  13. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

    Science.gov (United States)

    Lin, Angela E; Traum, Avram Z; Sahai, Inderneel; Keppler-Noreuil, Kim; Kukolich, Mary K; Adam, Margaret P; Westra, Sjirk J; Arts, Heleen H

    2013-11-01

    Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies. Dramatic advances with next-generation sequencing have expanded its phenotypic variability and molecular heterogeneity. We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may be a part of Sensenbrenner syndrome. In 14 of 25 (56.0%) patients pathogenic mutations have been identified in 4 different genes that regulate (intraflagellar) cilia transport. We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy-Jeune syndrome (ATD-JS) and other ciliopathies. Our analyses showed that the high anterior hairline, forehead bossing and dolichocephaly (accompanied by sagittal craniosynostosis in more than half of the patients) occur in almost all patients with Sensenbrenner syndrome. Metaphyseal dysplasia with narrow thorax, proximal limb shortness, and short fingers are typical of Sensenbrenner syndrome and ATD-JS. Respiratory complications have been reported in both syndromes, usually less severe with Sensenbrenner syndrome. Proposed diagnostic criteria for Sensenbrenner syndrome include the distinctive craniofacial appearance, ubiquitous brachydactyly and ectodermal anomalies, and sagittal craniosynostosis. Mild heart defects have been noted, but there have been no atrioventricular canal or heterotaxy defects that are common in Ellis-Van Creveld syndrome. We anticipate that the steady identification of molecularly defined patients may allow correlation of phenotype and genotype. Additional natural history data will improve genetic counseling and current guidelines. © 2013 Wiley Periodicals, Inc.

  14. Cotard syndrome in neurological and psychiatric patients.

    Science.gov (United States)

    Ramirez-Bermudez, Jesus; Aguilar-Venegas, Luis C; Crail-Melendez, Daniel; Espinola-Nadurille, Mariana; Nente, Francisco; Mendez, Mario F

    2010-01-01

    The authors describe the frequency and characteristics of Cotard syndrome among neurological and psychiatric inpatients at a tertiary referral center. All inpatients from the National Institute of Neurology of Mexico (March 2007-May 2009) requiring neuropsychiatric consultation were reviewed. Among 1,321 inpatient consultations, 63.7% had neurological disease and one (0.11%) had viral encephalitis and Cotard syndrome. Of inpatients, 36.2% had pure psychiatric disorders and three (0.62%) had Cotard syndrome, associated with psychotic depression, depersonalization, and penile retraction (koro syndrome). This review discusses potential mechanisms for Cotard syndrome, including the role of a perceptual-emotional dissociation in self-misattribution in the deliré des negations.

  15. Altered gastric emptying in patients with irritable bowel syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Caballero-Plasencia, A.M.; Valenzuela-Barranco, M. [Department of Medicine, School of Medicine, University of Granada (Spain); Herrerias-Gutierrez, J.M. [Division of Gastroenterology, University Hospital ``Virgen de la Macarena``, Sevilla (Spain); Esteban-Carretero, J.M. [Central Service of Investigation in Health Sciences, University of Cadiz, Cadiz (Spain)

    1999-04-29

    Irritable bowel syndrome is the most frequent functional disorder of the digestive system. Patients with irritable bowel syndrome have motor disorders not only in the colon, but also in other parts of the digestive tract such as the oesophagus and small intestine; however, it is not known whether the stomach is also involved. We used a radiolabelled mixed solid-liquid meal (technetium-99m for the solid component, indium-111 for the liquid component) to study gastric emptying of solids (GES), liquids (GEL) and indigestible solids (GER) in 50 patients diagnosed as having irritable bowel syndrome (30 with predominant constipation and 20 with predominant diarrhoea). GER was measured by counting the number of indigestible solids remaining in the stomach 4 h after they were swallowed. In patients with irritable bowel syndrome, GES and GEL were slower than in control subjects (P<0.05). GER was normal in all patients except for two women. Thirty-two patients (64%) showed delayed GES, 29 (58%) delayed GEL, and 2 (4%) delayed GER. Among patients with irritable bowel syndrome, GES was slower in those with predominant constipation than in those with predominant diarrhoea (P<0.05); GEL and GER were similar in both groups. Gastroparesis was found in a large proportion of patients with irritable bowel syndrome, suggesting the presence of a more generalised motor disorder of the gut. (orig.) With 1 fig., 3 tabs., 48 refs.

  16. [Psychological abnormalities in patients with complex regional pain syndrome (CRPS)].

    Science.gov (United States)

    Rommel, O; Willweber-Strumpf, A; Wagner, P; Surall, D; Malin, J-P; Zenz, M

    2005-08-01

    Do comorbid psychological disorders, dysfunctional pain processing, and psychosocial pain coping occur with complex regional pain syndrome (CRPS) and is a connection between clinical and psychological manifestations apparent? In addition to securing information on case histories and performing clinical neurological examinations of chronic CRPS patients, the structured clinical interview (SCID), pain perception scale, and the Kiel Pain Inventory were employed. The structured clinical interview revealed evidence of a depressive episode in 65% of CRPS patients. Pain perception is similar to neuropathic pain syndromes and patient history revealed a slightly increased frequency of anxiety and affective disorders. Depressive syndrome occurred significantly more often in right-sided CRPS; otherwise, there were no significant correlations between medical history, clinical examination, and frequency of psychological disorders. However, CRPS patients with allodynia manifest clinical signs of special psychological distress. In chronic CRPS depressive syndrome frequently develops and psychological treatment can be recommended.

  17. Cognitive Impairment in Patients with Pseudotumor Cerebri Syndrome

    Directory of Open Access Journals (Sweden)

    Siddharth Kharkar

    2011-01-01

    Full Text Available Introduction: Patients with Pseudotumor Cerebri Syndrome (PTCS may complain of difficulty in thinking or concentrating; however there has been little formal cognitive evaluation in this population.

  18. Presence of Ideomotor Apraxia in Stroke Patients with Pusher Syndrome

    National Research Council Canada - National Science Library

    Kwon, Yong Hyun; Kwon, Jung Won; Park, Sang Young; Lee, Mi Young; Jang, Sung Ho; Kim, Chung Sun

    2011-01-01

    [Purpose] Pusher syndrome, which is a disorder of postural balance that occurs in hemiparetic stroke patients, is characterized by a particular tendency to strongly push toward the hemiparetic side...

  19. Inflammation Markers in Patients with Cardiovascular Disease and Metabolic Syndrome

    National Research Council Canada - National Science Library

    Irena Korita; Anyla Bulo; Michel Langlois; Victor Blaton

    2013-01-01

    The clinical value and the interrelationship of HDL and the metabolic syndrome were studied using plasma levels of TNF-a, IL 6, IL 10, IL 8, IL 1beta, IL 2R in patients with cardiovascular stenosis...

  20. Posterior reversible encephalopathy syndrome in patient of severe ...

    African Journals Online (AJOL)

    neuroradiologic condition, not commonly reported in the literature. PRES is an uncommon complication of severe preeclampsia/eclampsia. We report the management of one patient with postpartum preeclampsia as an association of HELLP syndrome ...

  1. GERSTMANN?S SYNDROME IN ACUTE STROKE PATIENTS

    OpenAIRE

    Zukic, Sanela; MRKONJIC Zamir; Sinanovic, Osman; Vidovic, Mirjana; Kojic, Biljana

    2012-01-01

    Objective: Gerstmann in 1924. observed in a few patients a concomitant impairment in discriminating their own fingers, writing by hand, distinguishing left from right and performing calculations. He claimed that this tetrad of symptoms constituted a syndromal entity, assigned it to a lesion of the dominant parietal lobe. Since than, Gerstmann`s syndrome (GS) was enigma for neuropsychologists. The aim of this study was to analyze frequency and clinical features of GS among acute stroke patient...

  2. The Shoulder Gradient in Patients with Unilateral Shoulder Impingement Syndrome

    OpenAIRE

    Kim, Hee-Sang; Lee, Jong Ha; Yun, Dong Hwan; Yun, Jee-Sang; Shin, Yong Won; Chon, Jinmann; Hwang, Dae Gyu

    2011-01-01

    Objective To investigate the relationship between the shoulder gradient and acromiohumeral interval of both shoulders in patients with unilateral shoulder impingement syndrome. Method Using the angulometer, we measured the shoulder gradient in patients with unilateral shoulder impingement syndrome in a standing position. Using the radiography, we measured the acromiohumeral interval and the angle between a vertical line and a line connecting a superior angle with an inferior angle of the scap...

  3. Quantitative Sensory Testing in Patients With Postthoracotomy Pain Syndrome

    DEFF Research Database (Denmark)

    Wildgaard, Kim; Ringsted, Thomas K; Kehlet, Henrik

    2013-01-01

    was demonstrated, the much lower within-patient than between-patient variances facilitated estimations of highly statistical significant, within-patient differences in thermal thresholds. DISCUSSION:: In patients with postthoracotomy pain syndrome, several statistical methods indicated an excessively high......-retest variability of thermal thresholds in patients (n=14) with the postthoracotomy pain syndrome. METHODS:: Sensory mapping with a metal roller (25°C) on the surgical side delineated an area with cool sensory dysfunction. In this area and in a contralateral area, 4 prespecified sites (2.6 cm) were outlined...

  4. [Arteriovenous fistula in patients with a complicated postphlebitic syndrome].

    Science.gov (United States)

    Quiñones Castro, M; Fernández de la Vara Sánchez, L; Perera González, F; Alvarez Sánchez, J A

    1991-01-01

    An investigation, which goal is to evidencing AV fistulas in patients with a complicated postthrombotic syndrome, as well as to determinate the efficacy of noninvasive methods used for the study of AV fistulas in such patients, is presented. So, patients with a complicated postphlebitic syndrome interned into the Instituto de Angiología were studied. Twenty-five patients were included in the study, 9 of these patients (36%) had arteriovenous fistulas, arteriographically evidenced. Haemodynamic study do not support the evidence of such communications.

  5. Brown-McLean Syndrome in a Pediatric Patient

    Directory of Open Access Journals (Sweden)

    Abdo Karim Tourkmani

    2015-04-01

    Full Text Available The purpose of this manuscript is to report the case of a 12-year-old patient who presented for routine ophthalmic examination after congenital cataract surgery performed at 2 months of age. The patient was diagnosed with bilateral Brown-McLean syndrome by slit lamp examination. No treatment was required because the patient was asymptomatic and had a clear central cornea. This is the first described case of Brown-McLean syndrome in a pediatric patient, representing the importance of clinical examination in the pediatric age group after cataract surgery because of the risk for patients of developing peripheral edema.

  6. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    Science.gov (United States)

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  7. Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Chiappedi Matteo

    2011-11-01

    Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  8. The prevalence of metabolic syndrome in patients with hidradenitis suppurativa.

    Science.gov (United States)

    Gold, Daniel A; Reeder, Virginia J; Mahan, Meredith G; Hamzavi, Iltefat H

    2014-04-01

    Metabolic syndrome is a multifaceted disorder strongly associated with increased risk for development of cardiovascular disease. Chronic inflammatory diseases have been associated with metabolic syndrome. Hidradenitis suppurativa is a chronic inflammatory skin disease with significant physical and emotional sequelae. We sought to investigate a possible association between hidradenitis suppurativa and metabolic syndrome. A retrospective chart review of all dermatology clinic encounters over an 18-month period identified 366 patients with an appropriate diagnosis of hidradenitis suppurativa. A control population was created from patients seen in the same clinic during the same time period for the diagnoses of either keloids or verruca vulgaris using the matching criteria of age ±5 years, race, and gender. All participants were examined for characteristics of the metabolic syndrome as defined by the National Cholesterol Education Program Adult Treatment Program III guidelines. The prevalence of metabolic syndrome in patients with hidradenitis suppurativa was 50.6%, which was significantly higher than the control group at 30.2% (P < .001). This was a retrospective review. Some participants could not be analyzed for metabolic syndrome presence as a result of missing data points. Our results indicate that patients with hidradenitis suppurativa may be at high risk for metabolic syndrome. Copyright © 2013 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  9. Prevalence of metabolic syndrome in Montenegrin patients with psoriasis

    Directory of Open Access Journals (Sweden)

    Ražnatović-Đurović Milena

    2016-01-01

    Full Text Available Background/Aim. Increasing epidemiological studies suggest the association between psoriasis and metabolic syndrome. The aim of this study was to assess the association of metabolic syndrome and its components with psoriasis in a sample of patients from Montenegro, and to predict the factors that determine the metabolic syndrome. Methods. A case-control study was conducted at the Clinic of Dermatology and Venereology, Clinical Center of Montenegro, Podgorica, Montenegro, between January and December 2012. The study group included 101 patients with psoriasis (cases and 126 patients with the diagnosis of dermatological disease other than psoriasis (controls consecutively admitted to the same clinic. Results. Metabolic syndrome was more prevalent in the psoriasis patients than in the controls (48.5% vs 20.6%; OR = 2.99. In addition, the psoriasis patients were significantly more likely to be smokers (OR = 2.16 and were less physically active (OR = 0.58. Conclusion. The results of this study demonstrate a strong association between psoriasis and metabolic syndrome independent of psoriasis severity. Patients with psoriasis should be routinely screened for metabolic syndrome and its components. [Projekat Ministarstva nauke Republike Srbije, br. 175025: Clinical-epidemiological research of diseases of public health importance in Serbia

  10. The fecal microbiome in pediatric patients with short bowel syndrome

    Science.gov (United States)

    Changes in the intestinal microbiome of patients with short bowel syndrome (SBS) are thought to significantly affect clinical outcome. These changes may not only delay enteral diet advancement but may also predispose patients to bacterial translocation, bacteremia, and liver disease. Patients with S...

  11. Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Cláudia Giaxa Prosdócimo

    2015-03-01

    Full Text Available Background: Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS. Objective: To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods: Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI, which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE, emotional distancing (EmD, dehumanization (De and professional fulfillment (PF. The Lipp’s Stress Symptoms Inventory for Adults (LSSI was applied to evaluate global stress. Results: Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion: We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  12. Vesical hemangioma in patient with Klippel-Trenaunay-Weber syndrome

    Directory of Open Access Journals (Sweden)

    Favorito Luciano A.

    2003-01-01

    Full Text Available Klippel-Trenaunay-Weber syndrome is characterized by cutaneous hemangiomas, varicosity and bony hypertrophy of extremities. Urinary tract hemangiomas may occur in 3 to 6% of these patients. This work intends to report a case of a patient with a huge vesical hemangioma, who presented this syndrome. A 5 year-old boy with Klippel syndrome sought our services due to 3 episodes of gross hematuria in the past 30 days. Excretory urography and computerized tomography were performed, indicating the presence of a swelling in vesical dome. An exploratory cystotomy was conducted and the dark colored mass in vesical dome was excised by partial cystectomy. The histopathologic finding confirmed that it was a vesical hemangioma. Though rare, urinary tract hemangiomas must always be considered in patients with Klippel-Trenaunay syndrome.

  13. Dental management of patient with Williams Syndrome - A case report

    Directory of Open Access Journals (Sweden)

    Daniel Wong

    2015-01-01

    Full Text Available Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26-28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed.

  14. [Neurological deficits in patients with primary and secondary anticardiolipin syndrome].

    Science.gov (United States)

    Honczarenko, K; Ostanek, L; Grzelec, H; Fabian, A; Fiedorowicz-Fabrycy, I; Fryze, C

    2001-01-01

    27 patients (22 women, 5 men); age 17 to 56 yr. (mean age 37 yr.) were included in this study, 4 had primary antiphospholipid syndrome and 18 secondary antiphospholipid syndrome in the course of systemic connective tissue disease and in 5 cases increased levels of anticardiolipid antibodies were found which did not meet the criteria necessary for diagnosis of secondary antiphospholipid syndrome. The mean duration of the disease was 8 yrs. Among primary antiphospholipid syndrome patients two had ischaemic stroke, one migraine-like headache and seizures. 18 patients had lupus erythematosus, two mixed connective tissue disease, one rheumatoid arthritis, one Sjögren syndrome, one Behçet disease. In 55% of patients migraine-like headache, polyneuropathies, encephalophaties, stroke, seizures and vision disturbances were present. In 18.5% of patients EEG exam revealed focal lesions with tendency for generalisation. On brain stem auditory evoked potentials examination, in 11.1% of patients conductivity lesions in mesencephalon and pons were found, visual evoked potentials, in 11.1% of patients in visual tracts. In 37% of patients, neuropathy was found on EMG exam. Neurological symptoms are one of the most frequent disorders in systemic connective tissue disease associated with the presence of anicardiolipin antibodies.

  15. Prevalence of metabolic syndrome among hypertensive patients in Abuja, Nigeria.

    Science.gov (United States)

    Ojji, Dike B; Ajayi, Samuel O; Mamven, Manmak H; Alabi, Peter

    2012-01-01

    It is well known that factors like high blood pressure, hyperglycemia, dyslipidemia, obesity and hyperuricemia tend to cluster together giving rise to what is called metabolic syndrome. In spite of the high prevalence of hypertension in Nigeria, there is a dearth of data describing the prevalence of metabolic syndrome in Nigerian hypertensive patients. We therefore set out to look at the prevalence of metabolic syndrome in hypertensive patients presenting to the cardiology clinic of a tertiary institution in Abuja, Nigeria. Metabolic syndrome was defined in patients according to the World Health Organisation's definition. Of the 362 patients studied, 56.9% were male and 43.1% were female. The mean age was 51.80 +/- 11.63 years, mean duration of hypertension was 8.90 +/- 3.95 years, mean body mass index was 29.36 +/- 6.12 kg/m2 and mean arterial blood pressure was 110.28 +/- 18.17 mm Hg. Overall, 13.0% of the study population had metabolic syndrome; 16.7% of females and 10.2% of males. The prevalence of metabolic syndrome among hypertensive patients in Abuja, Nigeria is comparable to rates observed in some general populations in Europe. This might imply the epidemiological transition in disease pattern already being experienced in many parts of sub-Saharan Africa.

  16. Alien Limb Syndrome Responsive to Amantadine in a Patient with Corticobasal Syndrome

    Directory of Open Access Journals (Sweden)

    Francisco de Assis Aquino Gondim

    2015-07-01

    Full Text Available Background: Corticobasal syndrome (CBS is a complex neurodegenerative disorder associated with parkinsonism and alien limb syndrome. Dressing and ideomotor apraxia were reportedly responsive to amantadine. Case Report: A 79‐year‐old female was referred for evaluation of right hemiparesis. Neurological examination showed dementia, normal ocular movements, mild facial hypomimia, and bradykinesia with right hemiparesis. Nine years later, she developed alien limb syndrome and was diagnosed with CBS. After failure to respond to several medications, alien limb syndrome markedly improved with amantadine. Discussion: To the best of our knowledge, this is the first report of a consistent response of severe, forced dystonic alien limb syndrome to amantadine in a patient with CBS.

  17. Clinical and laboratory findings in 8 patients with Bloom's syndrome.

    Science.gov (United States)

    Masmoudi, Abderrahmen; Marrakchi, Slaheddine; Kamoun, Hassen; Chaaben, Hend; Ben Salah, Gada; Ben Salah, Raida; Fakhfakh, Faiza; Zahaf, Abdelmajid; Turki, Hamida

    2012-03-27

    Bloom's syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this syndrome through Tunisian series. We report in a retrospective study 8 case of bloom's syndrome observed during 20 years. Our patients were 4 males and 4 females issued from 5 families. For all patients, the parents were consanguineous. The age was 13 to 39 years. The telangiectatic erythema was developed in all the patients between 6 months and 2 years old on the cheeks, on the nose, on the lips and the lower eyebrows. The photosensitivity was constant and was complicated by vesicules and bullae for 5 patients who had extensive lesions, three patients noted accentuation of their telangiectasic erythema. An improvement with the age was noticed for the first four patients. The growth deficiency was observed for all patients. It was marked, between -2 and -4 DS (standard deviation). The number of sister chromatid exchange was increased to twelve fold comparatively to normal subjects. Two patients developed a breast cancer; the evolution was fatal in one. Another patient developed a leukaemia, the evolution was also fatal. Bloom's syndrome is a rare genodermatitis. All the patients presented three symptoms: telangiectatic erythema, growth delay and photosensitivity associated with immunodeficiency. There is significant risk of cancer, so that follow up of patients is mandatory.

  18. Increased prevalence of metabolic syndrome in patients with acne inversa.

    Directory of Open Access Journals (Sweden)

    Robert Sabat

    Full Text Available BACKGROUND: Acne inversa (AI; also designated as Hidradenitis suppurativa is a common chronic inflammatory skin disease, localized in the axillary, inguinal and perianal skin areas that causes painful, fistulating sinuses with malodorous purulence and scars. Several chronic inflammatory diseases are associated with the metabolic syndrome and its consequences including arteriosclerosis, coronary heart disease, myocardial infraction, and stroke. So far, the association of AI with systemic metabolic alterations is largely unexplored. METHODS AND FINDINGS: A hospital-based case-control study in 80 AI patients and 100 age- and sex-matched control participants was carried out. The prevalence of central obesity (odds ratio 5.88, hypertriglyceridemia (odds ratio 2.24, hypo-HDL-cholesterolemia (odds ratio 4.56, and hyperglycemia (odds ratio 4.09 in AI patients was significantly higher than in controls. Furthermore, the metabolic syndrome, previously defined as the presence of at least three of the five alterations listed above, was more common in those patients compared to controls (40.0% versus 13.0%; odds ratio 4.46, 95% confidence interval 2.02 to 9.96; P<0.001. AI patients with metabolic syndrome also had more pronounced metabolic alterations than controls with metabolic syndrome. Interestingly, there was no correlation between the severity or duration of the disease and the levels of respective parameters or the number of criteria defining the metabolic syndrome. Rather, the metabolic syndrome was observed in a disproportionately high percentage of young AI patients. CONCLUSIONS: This study shows for the first time that AI patients have a high prevalence of the metabolic syndrome and all of its criteria. It further suggests that the inflammation present in AI patients does not have a major impact on the development of metabolic alterations. Instead, evidence is given for a role of metabolic alterations in the development of AI. We recommend

  19. [Features of the periodontal pathology at patients with metabolic syndrome].

    Science.gov (United States)

    Ermolaeva, L A; Shishkin, A N; Sheveleva, N A; Penkovoi, E A; Sheveleva, M A; Sokolovich, N A; Khabarova, O V; Mihailova, E S

    2016-01-01

    The purpose of this article is to familiarize readers on the relationship between metabolic syndrome and periodontitis, as well as common pathogenetic processes underlying these diseases. The data of modern researches, devoted to the correlation of lesions of periodontal and systemic diseases associated with metabolic syndrome. In the article analyzed also the data of the original study of the interaction of periodontitis and metabolic syndrome, which also used special methods of examination like Doppler ultrasound microcirculatory vasculature of the periodontal tissues and ultrasound densitometry. The possible methods of diagnostics of a condition of periodontal tissues in patients with metabolic syndrome are considered. Conclusions about the relationship of each component of metabolic syndrome with periodontitis are made.

  20. Disease pattern in Danish patients with Peutz-Jeghers syndrome

    DEFF Research Database (Denmark)

    Jelsig, A M; Qvist, N; Sunde, L

    2016-01-01

    PURPOSE: In this paper, we aimed to collect genetic and medical information on all Danish patients with Peutz-Jeghers syndrome (PJS), in order to contribute to the knowledge of phenotype and genotype. Peutz-Jeghers syndrome is a hereditary syndrome characterized by multiple hamartomatous polyps...... in the GI tract, mucocutaneous pigmentations, and an increased risk of cancer in the GI tract and at extraintestinal sites. Over 90 % of patients harbour a pathogenic mutation in STK11. METHODS: Based on the Danish Pathology Data Bank, the Danish National Patient Register, as well as information from...... relevant departments at Danish hospitals, we identified patients and collected clinical and genetic information. RESULTS: We identified 43 patients of which 14 were deceased. The prevalence was estimated to be ∼1 in 195,000 individuals. The median age at first symptom was 27.5 with invagination...

  1. [Pulmonary reperfusion syndrome after pulmonary stent implants in a patient with vascular tortuosity syndrome].

    Science.gov (United States)

    Berenguer Potenciano, M; Piris Borregas, S; Mendoza Soto, A; Velasco Bayon, J M; Caro Barri, A

    2015-01-01

    Vascular tortuosity syndrome is a rare genetic disorder that causes tortuosity and stenosis of the pulmonary, systemic and / or coronary circulations. As a result of treatment of pulmonary stenosis, symptoms of pulmonary edema, known as lung reperfusion syndrome, may occur. The case is presented of an adolescent patient with vascular tortuosity syndrome who presented with a pulmonary reperfusion syndrome after multiple stent implants in the left pulmonary artery. After the procedure, the patient immediately developed an acute pulmonary edema with severe clinical deterioration, which required assistance with extracorporeal membrane oxygenation for recovery. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  2. The shoulder gradient in patients with unilateral shoulder impingement syndrome.

    Science.gov (United States)

    Kim, Hee-Sang; Lee, Jong Ha; Yun, Dong Hwan; Yun, Jee-Sang; Shin, Yong Won; Chon, Jinmann; Hwang, Dae Gyu

    2011-10-01

    To investigate the relationship between the shoulder gradient and acromiohumeral interval of both shoulders in patients with unilateral shoulder impingement syndrome. Using the angulometer, we measured the shoulder gradient in patients with unilateral shoulder impingement syndrome in a standing position. Using the radiography, we measured the acromiohumeral interval and the angle between a vertical line and a line connecting a superior angle with an inferior angle of the scapula. In patients with unilateral shoulder impingement syndrome, the frequency of shoulder impingement syndrome was 76.2% (16 of 21) on the side of the relatively lower shoulder. The mean acromiohumeral interval on the side of the lower shoulder was 10.03±1.28 mm, compared with 10.46±1.50 mm for the higher shoulder. The angle between a vertical line and a line connecting a superior angle with an inferior angle of the scapular of the side of the lower shoulder was -0.31±3.73 degrees, compared with 3.85±4.42 degrees for the higher shoulder. The frequency of shoulder impingement syndrome was significantly higher on the side of the relatively lower shoulder, and there is no significant difference in the acromiohumeral interval between the side of the lower shoulder and that of the higher shoulder. In patients with unilateral shoulder impingement syndrome, the scapular on the side of lower shoulder was more rotated downward than on the side of the higher shoulder.

  3. Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

    Science.gov (United States)

    Al Kaissi, Ali; Zwettler, Elisabeth; Ganger, Rudolf; Schreiner, Simone; Klaushofer, Klaus; Grill, Franz

    2013-01-01

    Background A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal’s syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. Methods In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Results Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. Conclusion This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities. PMID:23399831

  4. Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    Ali Al Kaissi

    2013-01-01

    Full Text Available Background A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. Methods In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Results Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. Conclusion This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities.

  5. Fluctuating Cotard syndrome in a patient with advanced Parkinson disease.

    Science.gov (United States)

    Solla, Paolo; Cannas, Antonino; Orofino, Gianni; Marrosu, Francesco

    2015-02-01

    Nonmotor fluctuations of psychiatric symptoms in patients suffering from Parkinson disease (PD) represent a very disabling condition, which may seriously interfere with the quality of life of patients and caregivers. In this regard, these disturbances are present with a higher frequency in advanced PD patients with associated motor complications and can appear both in "on" and in "off" period. Here we report on a case of fluctuating Cotard syndrome clearly related to "wearing-off" deterioration and responsive to levodopa treatment in a patient affected by advanced PD. A 76-year-old woman presented with a 13-year history of PD. Her caregivers reported that, in the last 2 months, she has developed a sudden onset of nihilistic delusion (Cotard syndrome), mainly during the "wearing-off" condition and associated with end of dose dyskinesias and akathisia.As Cotard syndrome clearly improved with the administration of levodopa, the patient was successfully treated changing the levodopa schedule with the shortening of intervals between levodopa intakes in small doses. Both the appearance of the Cotard syndrome in this patient during the "off" state and the subsequent improvement of psychotic symptoms after levodopa administration strongly suggest an important correlation with the dopaminergic dysregulation.This finding suggests that dopaminergic deficit might play a key factor in the development of Cotard syndrome.

  6. Cases of Churg-Strauss syndrome in patients receiving montelukast

    Directory of Open Access Journals (Sweden)

    Petrović Jelena

    2012-01-01

    Full Text Available Churg-Strauss syndrome is a rare disorder, but in patients with asthma it may develop as an adverse effect of the administered drugs. The aim of this study was to investigate possible causal relationship between montelukast and the occurrence of Churg-Strauss syndrome. Medical literature was reviewed by searching the databases 'Medline' and 'Googlescholar', in order to detect published cases of Churg-Strauss syndrome associated with use of montelukast. In this article is included 13 publications which contain the following keywords: montelukast, Churg-Strauss syndrome and side effects. Relationship between use of montelukast and development of Churg-Strauss syndrome was not clearly causal, although montelukast was associated with development and relapse of the syndrome. This fact supports the hypothesis that leukotriene antagonists are involved in the pathogenesis of this serious disease. Special attention should be paid to appearance of new symptoms in an asthmatic patient, already treated with corticosteroids, who start receiving leukotriene antagonists, especially if the dose of corticosteroids is reduced. Definitive confirmation or rejection of the hypothesis that leukotriene antagonists are directly involved in the development of this syndrome require further investigations.

  7. Cyclic Bicytopenia in a Patient with Shapiro Syndrome

    Directory of Open Access Journals (Sweden)

    Lindsey E. Roeker

    2013-01-01

    Full Text Available Shapiro syndrome and periodic hypothermia have been reported approximately fifty times in the literature. Shapiro syndrome is defined as the constellation of periodic hypothermia and hyperhidrosis along with agenesis of the corpus callosum by Shapiro et al. in 1969. Periodic hypothermia is a more broad diagnosis with a number of proposed mechanisms; it occurs in patients without structural brain abnormalities. Hematologic abnormalities beyond iron-deficiency anemia have not been documented in any of the reported cases of Shapiro syndrome or periodic hypothermia. Though accidental and therapeutic hypothermia have been associated with thrombocytopenia, this is, to our knowledge, the first reported case of periodic intrinsic hypothermia causing bicytopenia. In this report, we present the case of a patient with Shapiro syndrome who experienced cyclic bicytopenia mirroring hypothermic episodes. We address the differential diagnosis of bicytopenia, review the mechanisms proposed for cytopenias related to hypothermia, and propose possible mechanisms for the finding in this case.

  8. Multiple cerebral aneurysms in a patient with CREST syndrome.

    Science.gov (United States)

    Masuoka, Jun; Murao, Kenichi; Nagata, Izumi; Iihara, Koji

    2010-08-01

    Systemic sclerosis (SSc) associated with cerebral aneurysm is rare. We describe a patient with multiple cerebral aneurysms with the calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia (CREST) variant of SSc. A 61-year-old woman with a 20-year history of CREST syndrome was incidentally found to have four cerebral aneurysms located at the C2, C3 and C5 segments of the right internal carotid artery (ICA) and the C2 segment of the left ICA. The bilateral C2 segment aneurysms were successfully clipped using 2-stage surgery. To date, intracranial aneurysms have been reported in only two other patients with CREST syndrome. We hypothesize that the pathogenesis of the aneurysm is related to CREST syndrome. Elucidating the true incidence of cerebral aneurysms associated with CREST syndrome would help to clarify the relationship between SSc-related autoantibodies and aneurysm formation. Copyright 2010 Elsevier Ltd. All rights reserved.

  9. Superior Mesenteric Artery Syndrome in a Patient with Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Adi Neuman

    2014-01-01

    Full Text Available Superior mesenteric artery syndrome involves compression of the third part of the duodenum due to narrowing of the area between the aorta and the superior mesenteric artery (SMA. We will describe the case of a 34-year-old with cerebral palsy who presented with abdominal pain, nausea, vomiting, and weight loss and was diagnosed with SMA syndrome via CT-imaging. With failure of conservative measures, our patient underwent a duodenojejunostomy after which improvement in her weight as well as relief of her abdominal symptoms was noted. Given the rarity of this syndrome, physicians need to keep a high index of suspicion in order to prevent the damaging consequences.

  10. Noonan syndrome: a clinical and genetic study of 31 patients

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    1999-01-01

    Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

  11. Idiopathic intracranial hypertension in two patients with Alagille syndrome.

    Science.gov (United States)

    Mouzaki, Marialena; Nichter, Charles; Qureshi, Muhammad; Rountree, Bart; Furuya, Katryn N

    2010-08-01

    Alagille syndrome is an autosomal dominant condition with incomplete penetrance that is associated mostly with hepatic, cardiac, and skeletal abnormalities. In addition, the association of Alagille syndrome with ocular abnormalities is well known and is considered one of the characteristic features of this condition. Most commonly, posterior embryotoxon, glaucoma, or retinopathy has been identified in these children. The authors present 2 patients with Alagille syndrome who, before the age of 3 years old, developed idiopathic intracranial hypertension with documented increased intracranial pressure by lumbar puncture and papilledema, which was responsive to acetazolamide.

  12. Coronary artery bypass grafting in a patient with Gilbert syndrome

    Directory of Open Access Journals (Sweden)

    Kemal Korkmaz

    2012-12-01

    Full Text Available Here in we present a case of a postoperative jaundicedue to Gilbert’s syndrome in a patient who was sufferingfrom coronary artery disease and undergone coronaryartery bypass grafting operation. Signs and symptoms ofjaundice developed on the postoperative first day andresolved spontaneously after 7 days. The diagnosis andcharacteristics of Gilbert’s syndrome and other relatedabnormalities and factors relevant to anesthesia and cardiopulmonaryby-pass, which affect bilirubin metabolism,are discussed. J Clin Exp Invest 2012; 3(4: 555-557Key words: Coronary artery disease, coronary artery bypassgrafting, Gilbert’s syndrome

  13. [Methods of heparin therapy in surgical patients with thrombohemorrhagic syndrome].

    Science.gov (United States)

    Gasanov, F D

    2012-01-01

    The results of comparative study of different heparin medications efficacy in patients with thrombohemorrhagic syndrome (THS) are presented. The study was conducted in 286 patients with THS as a result of peritonitis of various etiology (174 patients), massive hemorrhage, shock, microcirculation disorders (112 patients). Heparin therapy carried out in 249 patients (87.1%), 37 patients (12.9%) had no heparin therapy./ In "heparin" group 193 patients (77.5%) received low molecular weight heparin (LMWH), 56 patients (22.5%) took unfractionated heparin (UFH). LWMH demonstrated high efficiency with fewer hemorrhagic complications in comparison with UFH/.

  14. Pre- and Postsurgical Orthodontics in Patients with Moebius Syndrome.

    Science.gov (United States)

    Magnifico, Marisabel; Cassi, Diana; Kasa, Ilda; Di Blasio, Marco; Di Blasio, Alberto; Gandolfini, Mauro

    2017-01-01

    The authors report a combined orthodontic-surgical correction of an adult patient's malocclusion affected by Moebius Syndrome (MS). The treatment was conducted at the Dentistry Unit and the Maxillofacial Surgery Unit of the University Hospital of Parma. Treatment of malocclusion was performed after the correction of facial mimic mobility with smile surgery. The postoperative stability and orthodontic results were good and the correction of the morphological problems related to the syndrome was very satisfactory.

  15. Algorithm of ovulation induction in patients with polycistic ovary syndrome

    OpenAIRE

    Bjelica Artur; Bjelanović Jelena; Milić Nataša; Mladenović-Segedi Ljiljana; Ilić Đorđe; Dimitrijević Jelena

    2016-01-01

    Introduction. Polycystic ovary syndrome is the most frequent endocrine disturbance in the reproductive period of women’s life and the most frequent cause of anovulatory infertility. Ovulation and pregnancy in patients having polycystic ovary syndrome may be a result of a wide range of therapeutic options, and the treatment assumes a gradual approach - from simple noninvasive to expensive and demanding procedures. Material and Methods. A systematic literatur...

  16. Anesthetic considerations for patients with postpolio syndrome: a case report.

    Science.gov (United States)

    Wheeler, Donna

    2011-10-01

    Postpolio syndrome is a disorder related to the recurrence of neuromuscular symptoms in survivors of paralytic poliomyelitis. A comprehensive understanding of the pathophysiology is necessary for the anesthesia provider to develop a safe anesthetic plan. This case report discusses the anesthetic challenges and considerations in patients with postpolio syndrome, focusing on the importance of careful pharmacologic dosing of opioids, and neuromuscular agents as well as perioperative and postoperative issues related to aspiration risks, cold intolerance, and positioning.

  17. Culture-bound syndromes in Hispanic primary care patients.

    Science.gov (United States)

    Bayles, Bryan P; Katerndahl, David A

    2009-01-01

    We sought to document Hispanic primary care patients' knowledge and experience of five culture-bound syndromes (CBS), as well as the basic socio-cultural correlates of these disorders. A convenience sample of 100 adult Hispanic patients presenting in an urban South Texas primary care clinic was recruited to complete a brief cross-sectional survey, presented in an oral format. Interviews sought information concerning five culture-bound syndromes--susto, empacho, nervios, mal de ojo, and ataques de nervios. Additional demographic, socio-economic, and acculturation data was collected. Descriptive and bivariate statistics (chi square, Fisher's) were used to assess relationships among variables and experience with each CBS. A multivariate logistic analysis was conducted to determine the possible contributions of age, gender, acculturation, and education to the personal experience of a culture-bound syndrome. Results indicate that 77% of respondents had knowledge of all five syndromes, with 42% reporting having personally experienced at least one CBS. Nervios was the most commonly suffered disorder, being reported by 30 respondents. This was followed, in declining order ofprevalence, by susto, mal de ojo, empacho, and ataques de nervios. Multivariate logistic regression analysis found that higher education beyond high school was associated with a slightly decreased likelihood of reporting having suffered from any culture-bound syndrome. While co-occurrence among these disorders occurred, the patterns of predictors suggest that the co-occurrence is not a reflection of mislabeling of one common syndrome. Knowledge of and experience with culture-bound syndromes is common among Hispanic primary care patients in South Texas. Healthcare providers ought to consider discussing these illnesses in a non-judgmental manner with patients who present with symptoms that are consistent with these syndromes. Future studies, with larger sample sizes, are warranted to elucidate the nature

  18. General anesthesia in a patient with Gilbert′s syndrome

    Directory of Open Access Journals (Sweden)

    Deb Sanjay Nag

    2011-01-01

    Full Text Available Gilbert′s syndrome, caused by relative deficiency of glucuronyl transferase is the commonest cause of congenital hyperbilirubinemia. We report anesthetic management in a case of Gilbert′s syndrome for laparoscopic cholecystectomy under general anesthesia. Avoiding drugs which use this enzyme for its metabolisim or excretion, and minimizing the stress during the perioperative period allows safe conduct of anesthesia for these patients.

  19. THE MYSTERY BEHIND THROMBOEMBOLISM IN A PATIENT WITH NEPHROTIC SYNDROME

    OpenAIRE

    Dr. Shahid Mahdi; Dr. Raja Suhail; Dr. Darpanarayan Hazra; Dr.Amit Pendharkar

    2017-01-01

    Hypercoaguable state with nephrotic syndrome is a well-known clinical entity. Tendency of hypercoagulability is directly linked to low serum protein and albumin concentrations. The possible reasons of hypercoagulability are explained as renal losses of anti thrombin III, factor VIII and plasminogen. The presentation may have various spectrums depending on the organ system involved. The current scientific literature suggests that patients with nephrotic syndrome with pulmonary embolism may ben...

  20. CE: Nursing Management of Patients with Ehlers-Danlos Syndrome.

    Science.gov (United States)

    Anderson, Linda K

    2015-07-01

    Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder, has historically been misunderstood and underdiagnosed by health care providers. Because of the high degree of phenotypic variability, patients are often correctly diagnosed only after years of seemingly unrelated but debilitating injuries and illnesses. Specific genetic mutations have been identified for some, but not all, EDS types; patients presenting with a high index of suspicion should be referred to a geneticist. As awareness and recognition of the syndrome improve, nurses are increasingly likely to care for patients with EDS. This article gives a brief overview of the syndrome and provides guidance on ways to manage symptoms, recognize and prevent serious complications, and improve patients' quality of life.

  1. Low Levels of HDL in Fragile X Syndrome Patients.

    Science.gov (United States)

    Lisik, Małgorzata Z; Gutmajster, Ewa; Sieroń, Aleksander L

    2016-02-01

    Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene resulting in the transcriptional silencing of the gene in the pathophysiology of Fragile X syndrome was hypothesized. 23 male patients affected by Fragile X syndrome (full mutation in the FMR1 gene) and 24 controls were included in the study. The serum levels of HDL-C were lower in FXS patients (p < 0.001). The serum levels triacylglycerols were higher in FXS patients (p = 0.007) Further study involving larger samples are necessary to confirm the results and define the health implications for abnormal lipid levels in FXS patients.

  2. Report of seven neurological patients with misidentification syndrome

    Directory of Open Access Journals (Sweden)

    Edson José Amâncio

    2004-12-01

    Full Text Available Objective: To present clinical, neuropsychological and laboratorydata on 7 patients with misidentification syndrome and to discussits possible etiologies and pathophysiology. Methods: Sevenpatients presenting misidentification syndrome, 6 female and 1male, aged 64-78 years were studied. All had a brain diseasediagnosed by clinical and laboratory data. All patients weresubmitted to general clinical examination, neurological andneuropsychological examinations, and brain magnetic resonanceimaging. Results: All patients were capable to recognizephotographs of relatives or famous persons. They presented goodvisual acuity that allowed them reading texts with small print andpreserved visual field. The etiologies of brain lesions were ischemicstroke, left temporal lobe tumor, idiopathic hydrocephalus in elderlypatients, Parkinson’s disease and probable Alzheimer’s disease.None presented enough cognitive disorders to characterize seniledementia. Conclusion: Misidentification syndromes are notnecessarily related to one single psychogenic etiology; on thecontrary, many organic causes may be related with the clinicalpicture. Most patients improved when submitted to treatmentwith typical or atypical neuroleptic drugs.

  3. [Diarrhea in a patient with Down syndrome and endemic sprue].

    Science.gov (United States)

    Micklefield, G; Wenzel, I U

    2000-02-01

    Down syndrome is associated with disorders such as celiac disease, hypothyroidism, and insulin-dependent diabetes mellitus. In patients with mono- or oligosymptomatic celiac disease the time interval between the onset of symptoms and diagnosis often is unacceptably long. A female patient with Down syndrome is presented who had acute watery diarrhea, which spontaneously ceased but recurred after a few days. After endoscopic and histologic evaluation and measurement of gliadin, endomysium, and reticulin antibodies celiac sprue was diagnosed. Further investigation showed findings of autoimmune hypothyroidism and secondary hyperparathyreoidism. After the patient was put on a gluten-free diet her state quickly improved. Associations between Down syndrome and autoimmune diseases exist. Patients with acute gastrointestinal symptoms should be evaluated as to celiac disease. The time interval between the onset of symptoms and diagnosis of celiac disease can be shortened, if all diagnostic tools are used at the appropriate time.

  4. FISH analysis in Prader-Willi and Angelman syndrome patients

    Energy Technology Data Exchange (ETDEWEB)

    Bettio, D.; Rizzi, N.; Giardino, D. [Centro Auxologico Italiano, Milan (Italy)] [and others

    1995-03-27

    We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion. 19 refs., 3 figs., 1 tab.

  5. Acute retroviral syndrome in Slovenian patients infected with HIV

    Directory of Open Access Journals (Sweden)

    Mateja Pirš

    2005-06-01

    Full Text Available Background: Two to six weeks after primary infection with HIV 50 to 90 percent of patients develop an acute retroviral syndrome which usually presents with mononucleosis or flu-like illness. Due to nonspecific symptoms ARS is frequently misdiagnosed.Patients and methods: Data of Slovenian patients with acute retroviral syndrome is shown, as well as their symptoms, approaches to management and diagnostic particularities of primary HIV infection.Conclusions: The combination of particular symptoms and epidemiological data should lead us to consider the possibility of an early HIV infection.

  6. Acute Pulmonary Edema in Patients with Cushing’s Syndrome

    Directory of Open Access Journals (Sweden)

    Mitra Niafar

    2015-01-01

    Full Text Available Introduction Dyspnea refers to difficulty in breathing, and short and shallow breaths. This sign is seen in numerous diseases due to pulmonary, cardiac, metabolic and neurological causes. Among cardiac causes, heart failure is considered the main cause of dyspnea. Cardiac failure is a clinical syndrome associated with a set of symptoms (dyspnea, and fatigue and signs (edema and rales. Common causes of cardiac failure include: myocardial infarction, ischemic heart disease, hypertension, valvular heart diseases, and cardiomyopathy. Among uncommon causes of heart failure, endocrine disorders such as Cushing’s syndrome can be cited. Cushing’s syndrome can present itself in less common forms such as dyspnea due to heart failure. Cushing’s syndrome’s cardiovascular complications usually occur due to hypertension, end organ damage such as left ventricular heart failure, diastolic and ischemic myocardial heart failure, which are rather seen in chronic cases of the disease and are often irreversible. Transient heart failure in patients with Cushing’s syndrome, due to adrenal adenoma, has been reported in a number of patients. In this case report, a patient is introduced who presented to emergency department with severe dyspnea (FC III, and was ultimately diagnosed with Cushing’s syndrome after work up. Three months after treatment of Cushing’s syndrome, dramatic improvement was observed in this patient’s cardiac function.

  7. Longitudinal Neuropsychological Profile in a Patient with Triple A Syndrome

    Directory of Open Access Journals (Sweden)

    Luigi Mazzone

    2013-01-01

    Full Text Available Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0 and after one year of follow-up (T1. Many difficulties were observed in the motor domain, as well as in manual dexterity and static/dynamic balance domains of the motor task over time. In sharp contrast with previous literature reports on frequent mild cognitive dysfunction in patients with Triple A syndrome, our child did not show any mental retardation. By contrast, he showed an average IQ at T0 with a slight improvement at T1. To our knowledge, this report is the first describing neuropsychological profile and co-occurring psychopathological problems in a child with Triple A syndrome. Considering that the Triple A syndrome is a progressive disorder which can take years to develop the full-blown clinical picture, these patients require periodical medical controls. Moreover, assessment of neuropsychological and psychopathological features should be performed in patients with this disease, in order to underline the variability of this syndrome.

  8. Ghrelin improves endothelial function in patients with metabolic syndrome.

    Science.gov (United States)

    Tesauro, Manfredi; Schinzari, Francesca; Iantorno, Micaela; Rizza, Stefano; Melina, Domenico; Lauro, Davide; Cardillo, Carmine

    2005-11-08

    Metabolic syndrome importantly accelerates the atherosclerotic process, the earliest event of which is endothelial dysfunction. Ghrelin, a gastric peptide with cardiovascular actions, has been shown to inhibit proatherogenic changes in experimental models. This study therefore investigated whether ghrelin administration might beneficially affect endothelial function in metabolic syndrome. Endothelium-dependent and -independent vasodilator responses to intra-arterial infusion of increasing doses of acetylcholine and sodium nitroprusside (SNP), respectively, were assessed by strain-gauge plethysmography before and after local administration of human ghrelin (200 microg/min). During saline, the vasodilator response to acetylcholine was significantly blunted (P=0.008) in patients with metabolic syndrome (n=12, 5 female) compared with controls (n=12, 7 female), whereas the vasodilator response to SNP was not different between groups (P=0.68). In patients with metabolic syndrome, basal plasma ghrelin was significantly lower than in controls (P=0.02). In these patients, ghrelin infusion markedly increased intravascular concentrations of the peptide (Pghrelin had no effect on the vasodilator response to acetylcholine (P=0.78 versus saline) after nitric oxide inhibition by NG-monomethyl-L-arginine. These findings indicate that ghrelin reverses endothelial dysfunction in patients with metabolic syndrome by increasing nitric oxide bioactivity, thereby suggesting that decreased circulating levels of the peptide, such as those found in these patients, might play a role in the pathobiology of atherosclerosis.

  9. Physical fatigue characterises patient experience of primary Sjogren's syndrome

    NARCIS (Netherlands)

    Arends, S.; Meiners, P.; Moerman, R. V.; Kroese, F. G. M.; Brouwer, Liesbeth; Spijkervet, F. K. L.; Vissink, A.; Bootsma, H.

    2017-01-01

    Objective Besides ocular and oral dryness, fatigue is a major symptom in patients with primary Sjogren's syndrome (pSS). Our aim was to investigate the importance of fatigue in relation to other symptoms experienced as well as to evaluate the effect of rituximab treatment on fatigue in pSS patients

  10. Postural Strategies in Prader-Willi and Down Syndrome Patients

    Science.gov (United States)

    Cimolin, Veronica; Galli, Manuela; Grugni, Graziano; Vismara, Luca; Precilios, Helmer; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

    2011-01-01

    Patients affected by Down (DS) and Prader-Willi syndrome (PWS) are characterised by some common clinical and functional features including gait disorders and reduced postural control. The aim of our study was to quantitatively compare postural control in adult PWS and DS. We studied 12 PWS and 19 DS adult patients matched for age, height, weight…

  11. [Prevention of erectile dysfunction in patients with metabolic syndrome].

    Science.gov (United States)

    Gamidov, S I; Sotnikova, E M; Gasanov, R V

    2007-01-01

    The aim of the study was to test efficacy of erectile dysfunction prevention in patients with metabolic syndrome by correction of metabolic disorders and stimulation of endothelial NO-synthetase. In case of the above correction and stimulation combination, the risk of erectile dysfunction went up significantly compared to placebo group and patients with correction of metabolic disorders alone.

  12. the metabolic syndrome among patients with cardiovascular disease ...

    African Journals Online (AJOL)

    Objectives: To determine the frequency of occurrence of the Metabolic Syndrome among patients presenting with cardiovascular disease at the Korle Bu Teaching Hospital, Ghana. Methods: This was a case-control study of 100 con-secutive cardiovascular disease patients and 100 age- and sex- matched controls who ...

  13. Grammar disruption in a patient with Neuro-Sweet syndrome

    NARCIS (Netherlands)

    Marien, Peter; Tops, Wim; Crols, Roel; Jonkers, Roel; De Deyn, Peter P.; Verhoeven, Jo

    2012-01-01

    This paper for the first time reports detailed neurolinguistic findings in a patient with Neuro-Sweet syndrome. In this patient the presenting symptoms of central nervous system (CNS) involvement primarily consisted of a selective grammar deficit restricted to spontaneous speech. On MRI a left

  14. Abdominal Compartment Syndrome in Surgical Patients

    African Journals Online (AJOL)

    level that the abdominal wall compliance threshold is exceeded and the abdomen can no longer stretch, at which point continued accumulation results in very high pressure within this compartment (2). The harmful effects of IAH occur long before the manifestation of compartment syndrome (3). When this is not recognized ...

  15. Pseudoexfoliation syndrome in Ethiopian glaucoma patients | Bedri ...

    African Journals Online (AJOL)

    Background: Pseudoexfoliation syndrome (PXS) has variable prevalence rates in the glaucoma population depending on geographic location and racial composition of the population studied. There is no data available on this subject in Ethiopia. Objective: To determine the prevalence of PXS among Ethiopian glaucoma ...

  16. Tumor Lysis Syndrome in Patients with Hematological Malignancies

    Directory of Open Access Journals (Sweden)

    Yohannes Belay

    2017-01-01

    Full Text Available Tumor lysis syndrome is a metabolic complication that may follow the initiation of cancer therapy. It commonly occurs in hematological malignant patients particularly non-Hodgkin’s lymphoma and acute leukemia due to chemotherapy or spontaneously. It is characterized by a biochemical abnormality such as hyperuricemia, hyperkalemia, hyperphosphatemia, and hypocalcemia and its clinical outcome is directly related to these biochemical abnormalities. Prevention and treatment of tumor lysis syndrome depend on immediate recognition of patients at risk. Therefore, identifying patients at risk and prophylactic measures are important to minimize the clinical consequences of tumor lysis syndrome. Patients with low risk should receive hydration and allopurinol. On the other hand patients with high risk should receive hydration and rasburicase in an inpatient setting. It is important to start therapy immediately, to correct all parameters before cancer treatment, to assess risk level of patients for TLS, and to select treatment options based on the risk level. In this review a comprehensive search of literatures was performed using MEDLINE/PubMed, Hinari, the Cochrane library, and Google Scholar to summarize diagnostic criteria, incidence, predicting factors, prevention, and treatment options for tumor lysis syndrome in patients with hematological malignancies.

  17. Abnormal oculocardiac reflex in two patients with Marcus Gunn syndrome

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    Maitree Pandey

    2011-01-01

    Full Text Available Marcus Gunn phenomenon is seen in 4 to 6% of congenital ptosis patients. We report two cases of abnormal oculocardiac reflex during ptosis correction surgery. Marcus Gunn syndrome is an autosomal dominant condition with incomplete penetrance. It is believed to be a neural misdirection syndrome in which fibres of the motor division of the trigeminal nerve are congenitally misdirected into the superior pterygoid and the levator muscles. Anesthetic considerations include taking a detailed history about any previous anaesthetic exposure and any reaction to it as this syndrome has a high probability of being associated with malignant hyperthermia. It is also postulated that an atypical oculocardiac reflex might be initiated in these patients as seen in our patients, so precautions must be taken for its prevention and early detection.

  18. Penicillin allergy in cancer patients manifesting as Kounis syndrome.

    Science.gov (United States)

    Soufras, George D; Ginopoulos, Panagiotis V; Papadaki, Paraskevi J; Zavras, George M; Gouvelou-Deligianni, Georgia V; Batsolaki, Maria; Kouni, Sophia; Kounis, Nicholas G; Koutsojannis, Constantinos M

    2005-07-01

    Two cases of allergic angina and allergic myocardial infarction (Kounis syndrome) following penicillin administration are described. The patients suffered from lung and mandible neoplasms and had previously received several courses of antineoplastic therapy without any sequelae. One patient had normal coronary arteries (type I variant of the syndrome) and the other had coronary artery disease with previous myocardial infarction (type II variant of the syndrome). The allergic reaction following penicillin administration seemed to have triggered the development of an acute coronary artery spasm in the first patient and an acute myocardial infarction in the second. This report shows that susceptible individuals expressing a magnified mast cell degranulation effect may be more vulnerable to coronary artery spasm and plaque erosion or rupture.

  19. Budd-Chiari Syndrome in a Patient with Hepatitis C

    Directory of Open Access Journals (Sweden)

    Joseph Frankl

    2016-01-01

    Full Text Available Chronic Budd-Chiari syndrome can present with cirrhosis and signs and symptoms similar to those of other chronic liver diseases. We present a case of Budd-Chiari syndrome discovered during attempted transjugular intrahepatic portosystemic shunting in a patient with decompensated cirrhosis believed to be secondary to hepatitis C. Although the patient had hepatocellular carcinoma, the Budd-Chiari syndrome was a primary disease due to hepatic venous webs. Angioplasty was performed in this case, which resolved the patient’s symptoms related to portal hypertension. Follow-up venography 5 months after angioplasty demonstrated continued patency of the hepatic veins. A biopsy was obtained in the same setting, which showed centrilobular fibrosis indicating that venous occlusion was indeed the cause of cirrhosis. It is important to consider a second disease when treating a patient with difficult to manage portal hypertension.

  20. Prevalence of metabolic syndrome diagnosis in patients with obstructive sleep apnoea syndrome according to adopted definition.

    Science.gov (United States)

    Kumor, Marta; Bielicki, Piotr; Barnaś, Małgorzata; Przybyłowski, Tadeusz; Zieliński, Jan; Chazan, Ryszarda

    2013-01-01

    Metabolic syndrome (MS), which is connected with enlarged cardiovascular risk, is common in patients with OSAS. The aim of the study was to estimate the prevalence of MS in patients with OSAS according to two definitions of MS (criteria from NCEP-ATP III from 2001 versus criteria from IDF 2005). Materials consisted of 155 males and 18 females with OSAS (mean AHI 44 ± 22 h-1), obesity (BMI 31.8 ± 5.0 kg/m2), aged 53.9 ± 9.3 years (mean ± SD). Serum lipids, glucose, body mass index (BMI), waist circumference (WC) and waist-to-hip ratio (WHR) were measured in all patients. According to first definition (NCEP - ATP III from 2001), MS was diagnosed in 98 patients (56% of the whole group - MS1 group) compared to 120 patients (69% of the whole group - MS2 group) diagnosed according to the second definition (IDF from 2005), p definition from 2005 of metabolic syndrome indeed increases the frequency of diagnosis of metabolic syndrome in patients with OSAS. We did not observe essential clinical correlation among the degree of OSAS severity and recognition of metabolic syndrome in the MS1 or in the MS2 group.

  1. Determination of periodontopathogens in patients with Cri du chat syndrome.

    Science.gov (United States)

    Ballesta-Mudarra, Sofía; Machuca-Portillo, Guillermo; Torres-Lagares, Daniel; Rodríguez-Caballero, Ángela; Yáñez-Vico, Rosa-María; Solano-Reina, Enrique; Perea-Pérez, Evelio

    2013-11-01

    Cri du chat syndrome is a genetic alteration associated with some oral pathologies. However, it has not been described previously any clinical relationship between the periodontal disease and the syndrome. The purpose of this comparative study was to compare periodontopathogenic flora in a group with Cri du chat syndrome and another without the síndrome, to assess a potential microbiological predisposition to suffer a periodontitis. The study compared nineteen subjects with Cri du chat Syndrome with a control group of nineteen patients without it. All patients were clinically evaluated by periodontal probing, valuing the pocket depth, the clinical attachmente level and bleeding on probing. There were no significant differences between both groups. Aggregatibacter actinomycetemcomitans, Porphyromonas gingivalis, Prevotella intermedia, Tannerella forsythia and Treponema denticola were detected by multiplex-PCR using 16S rDNA (microIDENT). When A. actinomycetemcomitans, P. gingivalis, P. intermedia and T. denticola were compared, no statistically significant differences were found between the two groups (p>0.05). The value of T. forsythia was significantly higher for Cri du chat syndrome (31.6%) than for the control group (5.3%). The odds ratio for T. forsythia was 8.3. In the present study T. forsythia is associated with Cri du chat syndrome subjects and not with healthy subjects.

  2. Assessment of Sexual Dysfunction in Patients with Fibromyalgia Syndrome

    Directory of Open Access Journals (Sweden)

    Rahime Nur Ülker

    2013-12-01

    Full Text Available Objectives: The aim of our study is to determine the presence, quality of sexual dysfunction in patients with fibromyalgia syndrome and to compare with normal population. Material and Methods: A total of 55 sexually active women who were admitted to Department of Physical Therapy and Rehabilitation of Antalya Research and Training Hospital and diagnosed with fibromyalgia syndrome according to 1990 and 2010 American College of Rheumatology (ACR criteria. A control group composed of 50 sexually active women who were admitted to our clinic with various musculoskeletal system complaints were also included in the study in order to compare the parameters used for clinical assessment of patients and to determine whether the patients differ from normal population. Patients and controls who met inclusion criteria were applied Female Sexual Function Index (FSFI for assessment of sexual function. This test was developed by Rosen and colleagues in 2000, it is composed of 19 questions and inquires six different dimensions including desire, arousal, lubrication, orgasm, sexual satisfaction and pain. Turkish validation test was done by Turkish Society Of Andrology in 2003, answers are multiplied with a coefficient and each section is evaluated on six scores. Minimum score is 2.4 and maximum is 36 and standardly used for assessment of female sexual dysfunction in Turkey. Results: Subscale and total score of Female Sexual Function Index of Fibromyalgia syndrome patients were found statistically significantly lower than those of control group (p<0.05. Conclusion: Disorders of sexual function or its quality are one of the problems seen in fibromyalgia syndrome patients. It should be noticed that sexual function assessment must be a part of treatment of fibromyalgia syndrome. It is quite difficult to determine the mechanism between sexual dysfunction and fibromyalgia syndrome and new and larger studies are needed to determine this mechanism. (Turkish Journal of

  3. Psychological correlates and psychiatric morbidity in patients with Dhat syndrome.

    Science.gov (United States)

    Grover, Sandeep; Gupta, Sunil; Avasthi, Ajit

    2015-01-01

    The aim of this study was to examine psychological factors in the form of somatosensory amplification, alexithymia and hypochondriasis in patients with Dhat syndrome. Secondary aims of the study were: (1) To evaluate the influence of psychiatric comorbidity on the psychological correlates; (2) to compare the prevalence of psychological correlates in those with Dhat syndrome and in those with depression and somatoform disorders. A total of 106 subjects diagnosed with Dhat syndrome as per International Classification of Diseases-10 (ICD-10) criteria were assessed on Toronto Alexithymia Scale (TAS-20), Somatosensory Amplification Scale (SSAS) and Whitely Index (WI). Psychiatric comorbidity was diagnosed as per ICD-10. Data on 50 patients with depression and 119 patients with somatoform disorder was used for comparison. The age at onset of Dhat syndrome was 22.54 (standard deviation [SD] - 7.5) years, and duration of illness was 5.04 (SD - 4.2) years. Depressive disorders were diagnosed in 13.2%, anxiety disorders in 15.1%, erectile dysfunction in 14.2% and premature ejaculation in 17% of cases. The mean SSAS total score was 23.12 (SD - 7.99), mean total TAS-20 score was 63.3 (SD - 13.3) and mean WI score was 8.23 (SD - 2.7). About two third of the patients had alexithymia (n = 67; 63.2%) and hypochondriasis (n = 69; 65.1%). Comparison of the psychological correlates between those with Dhat syndrome alone (n = 59) and those with comorbid psychiatric disorder (n = 47) revealed no significant differences. Patients with only Dhat syndrome had significantly higher scores for somatosensory amplification when compared with those with somatoform disorders, but no difference was seen between those with depression and Dhat syndrome alone. Compared to patients with Dhat syndrome alone, those with depression had higher prevalence of alexithymia and hypochondriasis. There are differences in the prevalence of somatosensory amplification, hypochondriasis and alexithymia between

  4. Frailty syndrome in patients with heart rhythm disorders.

    Science.gov (United States)

    Mlynarska, Agnieszka; Mlynarski, Rafal; Golba, Krzysztof S

    2017-09-01

    To assess the prevalence of frailty syndrome in patients with heart rhythm disorders that qualified for pacemaker implantation. The study included 171 patients (83 women, aged 73.9 ± 6.7 years) who qualified for pacemaker implantation as a result of sinus node dysfunction (81 patients) or atrio-ventricular blocks (AVB; 90 patients). A total of 60 patients (25 women, aged 72.40 ± 7.09 years) without heart rhythm disorders were included in the control group. Frailty syndrome was diagnosed using the Canadian Study of Health and Aging Clinical Frailty Scale test. Frailty syndrome was diagnosed in 25.15% of the patients, and pre-frailty in 36.84% of the patients. Frailty syndrome was diagnosed in 10% of the control group, and the average value of frailty was 3.35 ± 0.92. Frailty occurred significantly more often among patients with AVB (33.34%) compared with patients who were diagnosed with sinus node dysfunction (16.05%); P = 0.0081. The average score of frailty for sinus node dysfunction was 3.71 ± 0.89, and for AVB it was 4.14 ± 0.93; P = 0.0152. In the case of AVB, the women had a statistically more intense level of frailty of 4.54 ± 0.90 as compared with the men 3.87 ± 0.85; P = 0.0294. In the multiple logistic analysis, the presence of any arrhythmia was strongly associated with frailty syndrome (OR 2.1286, 95% CI 1.4594 - 3.1049; P = 0.0001). Frailty syndrome was diagnosed in one-quarter of patients with cardiac arrhythmias, whereas a further 40% were at a higher risk of frailty syndrome, and its occurrence was significantly higher if compared with the control group. Frailty occurred significantly more often among patients with atrio-ventricular blocks, especially in women. The results of the present research showed that there is a statistical association between frailty and arrhythmias. Geriatr Gerontol Int 2017; 17: 1313-1318. © 2016 Japan Geriatrics Society.

  5. CLOSER RELATIONSHIP BETWEEN MIA SYNDROME AND LOW T3 SYNDROME IN OLDER PERITONEAL DIALYSIS PATIENTS

    Directory of Open Access Journals (Sweden)

    Xin-kui Tian

    2012-06-01

    Full Text Available The aim was to explore the relationships between malnutrition-inflammation-athersclerosis (MIA syndrome and low Triiodothyronine (T3 syndrome in older peritoneal dialysis (PD patients. A cross-sectional survey was conducted in 109 PD patients visiting our clinic between March to April, 2009. Subjective global nutritional assessment (SGA and lean body mass (LBM, arterial pulse pressure (PP, and serum thyroid profiles were measured. All patients were divided into two groups by age (≥65 or < 65years . There were higher prevalence of malnutrition (assessed by SGA, 28.6% vs 8.3%, P<0.05, greater PP (60.2±15.0 vs 52.0±20.2mmHg, P<0.05, and higher levels of serum C-reactive protein (CRP, 9.02±10.4 vs 3.43±5.09 mg/L, P<0.05 in 49 older patients compared to the younger. Higher prevalence of low T3 syndrome (42.9% vs 21.7%, P<0.05 and lower levels of serum free T3 (fT3, 2.41±0.35 vs 2.57±0.31 pg/ml, P<0.05 were found in older people. There were significant correlations between serum fT3 and LBM (r=0.297, P<0.05, CRP (r=−0.302, P<0.05, and PP (r=−0.284, P<0.05 in older people but not in the younger. In conclusion, Older PD patients are more susceptible to MIA syndrome and low T3 syndrome than the younger, a vicious circle may exist between these two syndromes in this population.

  6. Metabolic syndrome in first-time hospitalized patients with depression

    DEFF Research Database (Denmark)

    Nyboe, L; Vestergaard, C H; Lund, H

    2016-01-01

    OBJECTIVE: Studies on metabolic syndrome (MetS) in younger patients with depression are few. We examined the prevalence and progression of MetS in first-time hospitalized patients with depression during 1 year of follow-up. Furthermore, we explored putative risk factors of MetS. METHOD: We...... increase in WC and triglycerides and a non-significant increase in the prevalence of MetS. Antipsychotic medication (OR 10.5, 95% CI 1.18-94.14) and low aerobic fitness (OR 0.79, 95% CI 0.68-0.93) were significantly correlated with MetS (P Metabolic syndrome is highly prevalent...

  7. Anesthetic management of craniosynostosis repair in patient with Apert syndrome

    Directory of Open Access Journals (Sweden)

    Niraj Kumar

    2014-01-01

    Full Text Available Apert syndrome is an autosomal dominant disease characterized by craniosynostosis, midface hypoplasia and syndactyly. In general, patients present in early childhood for craniofacial reconstruction surgery. Anesthetic implications include difficult airway, airway hyper-reactivity; however, possibility of raised intracranial pressure especially when operating for craniosynostosis and associated congenital heart disease should not be ignored. Most of the cases described in literature talk of management of syndactyly. We describe the successful anesthetic management of a patient of Aperts syndrome with craniosynostosis posted for bicornual strip craniotomy and fronto-orbital advancement in a 5-year-old child.

  8. Radiographic findings in patients with clinical Tietze syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Jurik, A.G.; Justesen, T.; Graudal, H.

    1987-10-01

    Thirteen patients with similar painful tender swelling in the region of the sternocostal joint (SCJ) are reported. X-ray tomography revealed changes which might explain the swelling in 11 patients. Three patients had anatomical variants of the sternum. One of these and a further two patients had marginal osteophytes at the affected SCJ, as signs of osteoarthrosis. Six patients with psoriasis, pustulosis palmoplantaris, or psoriasis in the family had past or present arthritis of the involved SCJ or the manubriosternal joint. Tomography was found to be a useful confirmatory examination in patients with clinical Tietze syndrome.

  9. Computed tomography in patients with Ehlers-Danlos syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hagino, Hiroshi; Sugitani, Akitoshi; Eda, Isematsu; Takashima, Sachio; Takeshita, Kenzo

    1985-09-01

    Three patients with Ehlers-Danlos syndrome were reported. Unusual findings on computed tomography were seen in two of the three patients. One case showed peculiar and marked dilatation of the 4th ventricle, supracerebellar cistern and lateral ventricle. The other case presented disproportionate enlargement of the anterior horn of the lateral ventricle. These CT findings in the two patients suggest that developmental abnormalities may constitute a structural defect.

  10. Dyspnoea management in acute coronary syndrome patients treated with ticagrelor

    OpenAIRE

    Parodi, Guido; Storey, Robert F

    2015-01-01

    The occurrence of dyspnoea in acute coronary syndrome (ACS) patients has always been considered a challenging diagnostic and therapeutic clinical scenario. P2Y12 platelet receptor inhibitors (i.e., clopidogrel, prasugrel and ticagrelor) are currently the cornerstone of treatment of ACS patients. Thus, in the last few years, the potential association between ACS and dyspnoea has also become more challenging with the increasing use of ticagrelor in these patients due to its beneficial effects o...

  11. Primary care cardiology for patients with hypoplastic left heart syndrome.

    Science.gov (United States)

    Boris, Jeffrey R

    2011-12-01

    Primary care cardiology is also known as ambulatory cardiology and outpatient cardiology. Primary care cardiology for the longitudinal management of patients with hypoplastic left heart syndrome is both poorly described and has limited evidence to justify its basis. This article briefly discusses the various complications that these patients can develop, reviews the medical literature, and describes a framework for the care of these complex patients from infancy to transition to care by specialists in adults with congenital cardiac disease.

  12. Non-cardiac issues in patients with heterotaxy syndrome

    Directory of Open Access Journals (Sweden)

    Shyam S Kothari

    2014-01-01

    Full Text Available Management of complex congenital heart disease in patients with Heterotaxy syndrome (HS has steadily improved. However, there is an insufficient appreciation of various non-cardiac issues that might impact the overall status of these patients. This article briefly reviews the implications of gastrointestinal, immunologic, genitourinary, respiratory, and central nervous system involvement in HS patients with a view to aid in their comprehensive clinical management.

  13. Congenital heart defects in molecularly proven Kabuki syndrome patients.

    Science.gov (United States)

    Digilio, Maria Cristina; Gnazzo, Maria; Lepri, Francesca; Dentici, Maria Lisa; Pisaneschi, Elisa; Baban, Anwar; Passarelli, Chiara; Capolino, Rossella; Angioni, Adriano; Novelli, Antonio; Marino, Bruno; Dallapiccola, Bruno

    2017-11-01

    The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%). Additional CHDs diagnosed in single patients included aortic dilatation with mitral anomaly and hypoplastic left heart syndrome. We also reviewed CHDs in patients with a molecular diagnosis of Kabuki syndrome reported in the literature. In conclusion, a CHD is detected in 70% of patients with KMT2D (MLL2) pathogenic variants, most commonly left-sided obstructive lesions, including multiple left-sided obstructions similar to those observed in the spectrum of the Shone complex, and septal defects. Clinical management of Kabuki syndrome should include echocardiogram at the time of diagnosis, with particular attention to left-sided obstructive lesions and mitral anomalies, and annual monitoring for aortic arch dilatation. © 2017 Wiley Periodicals, Inc.

  14. 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.

  15. Valproic Acid related metabolic syndrome in patients with epilepsy.

    Science.gov (United States)

    Mania, M; Kasradze, S; Okujava, N

    2011-05-01

    Valproic acid (VPA) is an anticonvulsant and mood-stabilizing drug for the long-term treatment. It is established that VPA has number of side effects affecting metabolic and endocrine system, like weight gain, hyperinsulinemia, changes in sex hormones, dyslipidemia, hyperleptinemia and etc. But the data are not sufficient to judge if VPA treatment can induce metabolic syndrome. Our aim was to investigate metabolic syndrome frequency in VPA-treated (n=11) and CBZ-treated (n=13) patients with epilepsy and in drug-free healthy subjects (n=11). We diagnosed metabolic syndrome according to Adult Treatment Panel III criteria (ATP III). We took blood samples for analysing triglyceride, HDL cholesterol and fasting glucose. Waist circumference and blood pressure was measured as well. Our data revealed that metabolic syndrome is relatively frequent in VPA-treated patients group (45,5%) compared with CBZ group and controls (15.4% and 27.3% respectively) (pmetabolic syndrome in patients with epilepsy, but BMI did not differ between VPA monotherapy study group, CBZ monotherapy study group and controls.

  16. 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

  17. Reduced apolipoprotein glycosylation in patients with the metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Olga V Savinova

    Full Text Available The purpose of this study was to compare the apolipoprotein composition of the three major lipoprotein classes in patients with metabolic syndrome to healthy controls.Very low density (VLDL, intermediate/low density (IDL/LDL, hereafter LDL, and high density lipoproteins (HDL fractions were isolated from plasma of 56 metabolic syndrome subjects and from 14 age-sex matched healthy volunteers. The apolipoprotein content of fractions was analyzed by one-dimensional (1D gel electrophoresis with confirmation by a combination of mass spectrometry and biochemical assays.Metabolic syndrome patients differed from healthy controls in the following ways: (1 total plasma--apoA1 was lower, whereas apoB, apoC2, apoC3, and apoE were higher; (2 VLDL--apoB, apoC3, and apoE were increased; (3 LDL--apoC3 was increased, (4 HDL--associated constitutive serum amyloid A protein (SAA4 was reduced (p<0.05 vs. controls for all. In patients with metabolic syndrome, the most extensively glycosylated (di-sialylated isoform of apoC3 was reduced in VLDL, LDL, and HDL fractions by 17%, 30%, and 25%, respectively (p<0.01 vs. controls for all. Similarly, the glycosylated isoform of apoE was reduced in VLDL, LDL, and HDL fractions by 15%, 26%, and 37% (p<0.01 vs. controls for all. Finally, glycosylated isoform of SAA4 in HDL fraction was 42% lower in patients with metabolic syndrome compared with controls (p<0.001.Patients with metabolic syndrome displayed several changes in plasma apolipoprotein composition consistent with hypertriglyceridemia and low HDL cholesterol levels. Reduced glycosylation of apoC3, apoE and SAA4 are novel findings, the pathophysiological consequences of which remain to be determined.

  18. The need for blood products in patients with crush syndrome.

    Science.gov (United States)

    Kazancioglu, Rumeyza; Pinarbasi, Binnur; Esen, Bahar Artim; Turkmen, Aydin; Sever, Mehmet S

    2010-01-01

    Crush syndrome is typical for multisystem involvement because of coexisting major surgical and/or medical problems. Treatment of patients with crush syndrome following mass disasters is even more problematic as hundreds of patients are admitted to hospitals and need therapy at once. In this study, the authors evaluated the need of blood and blood products in patients hospitalized due to crush syndrome after the Marmara earthquake in a single center The clinical and laboratory variables regarding 60 patients with crush syndrome (30 males and 30 females; mean age: 31.3 +/- 13.8 years) hospitalized at a tertiary center that were documented on the preformed questionnaires distributed by International Society of Nephrology Task Force at the aftermath of the earthquake were analyzed by Statistical Package for Social Sciences for Windows software version 13.0 (SPSS Inc, Chicago, IL, USA). Thirty-nine patients (16 males and 23 females; mean age: 30.1 +/- 12.6 years) were transfused with 589 U of blood, 840 U of fresh frozen plasma, and 172 U of human albumin during the hospitalization. Most of the transfusions were performed during the first week after the hospitalization. As a result, the preparation for disasters should also include logistic plans for obtaining sufficient amount of blood and blood products to be used in the early aftermath of the event.

  19. CT scan findings of patients with Rett syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, Hisaharu; Takanashi, Aiko; Hirayama, Yoshito; Sakuragawa, Norio; Arima, Masataka; Tateno, Akihiko; Koide, Hiroyoshi.

    1989-05-01

    CT findings and clinical features were analyzed in 16 female patients with Rett syndrome, whose ages were between 4 and 20. Fifteen patients had microcrania. Twelve patients were able to stand and run; however, the remaining 4 patients had the only ability to sit. CT revealed an atrophy of the ponse and various degrees of dilatation in the Silvian fissure, frontal sulcus, and space between the cranium and the frontal polar lobe. An atrophy in the frontal lobe, cerebral cortex surrounding the Silvian fissure, and white matter directly below the cortex seemed to have an important role in the occurrence of this syndrome. There was, however, no definitive correlation between the degree of atrophy and both the patient's age and motor function. Serial CT scannings with clinical process are required. (Namekawa, K).

  20. Characterization of thrombosis in patients with Proteus syndrome.

    Science.gov (United States)

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

    2017-09-01

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

  1. Oral implant rehabilitation in a patient with Moebius syndrome.

    Science.gov (United States)

    Escoda-Francolí, Jaume; Sánchez-Garcés, María-Angeles; Gay-Escoda, Cosme

    2009-06-01

    Moebius syndrome is a rare congenital disorder characterized by unilateral or bilateral involvement of the sixth and seventh cranial nerves, resulting in a lack of facial expression and eye movements. These patients suffer a series of oral manifestations that may complicate their dental treatment, such as facial and tongue muscle weakness, uncontrolled salivation secondary to deficient lip sealing, micrognathia, microstomia, bifid uvula, gothic and fissured palate, fissured tongue, and glossoptosis. The underlying etiology remains unclear, though vascular problems during embryogenesis appear to be involved. We report the case of a woman with Moebius syndrome and total edentulism . Eight years ago she underwent complete oral rehabilitation with the placement of two implants in each dental arch. Moebius syndrome has still an unknown etiology, although it is related to disorders during pregnancy. This kind of patient can be rehabilitated using oral implants.

  2. A neovascularized epiretinal membrane in a patient with terson syndrome.

    Science.gov (United States)

    Toffoli, Daniela; Allaire, Guy S; Barkat, Fayrouz; Sebag, Mikaël

    2010-01-01

    We report on a patient with Terson syndrome in the left eye complicated by a neovascularized epiretinal membrane likely secondary to cocaine use. Case report and literature review using the Medline database (1966-2007). A woman known for cocaine use was seen in the ophthalmology clinic for Terson syndrome in the left eye after subarachnoid hemorrhage. Ten months later, a neovascularized epiretinal membrane was noted in the left eye and confirmed with retinal angiography and optical coherence tomography. After vitrectomy, the neovascular membrane was sent for histopathological examination, revealing neovascular capillaries. Neovascularized epiretinal membranes have never been reported in Terson syndrome and in our patient this likely occurred due to an ischemic retinal environment created by cocaine use and decreased retinal perfusion after subarachnoid hemorrhage.

  3. Prognosis of patients treated for Cushing syndrome.

    Science.gov (United States)

    Aulinas, Anna; Valassi, Elena; Webb, Susan M

    2014-01-01

    Cushing syndrome (CS), due to an ACTH-secreting pituitary adenoma, adrenal tumors, or ectopic ACTH secretion, causes hypercortisolism. CS is associated with major morbidity, especially metabolic and cardiovascular complications, osteoporosis, psychiatric changes, and cognitive impairment. Despite biochemical "cure" of hypercortisolism and clinical improvement after effective treatment, these complications are only partially reversible. Exacerbation of prior autoimmune diseases is also seen. All of these lead to quality of life impairment and increased mortality. This review addresses the main comorbidities and long-term consequences of CS despite clinical and biochemical "cure". Copyright © 2013 SEEN. Published by Elsevier Espana. All rights reserved.

  4. Scoliosis in patients with Prader-Willi Syndrome.

    Science.gov (United States)

    Odent, Thierry; Accadbled, Franck; Koureas, Georges; Cournot, Maxime; Moine, Alexandre; Diene, Gwenaelle; Molinas, Catherine; Pinto, Graziella; Tauber, Maïthé; Gomes, Bruno; de Gauzy, Jérôme Sales; Glorion, Christophe

    2008-08-01

    Our goals were to determine the prevalence and estimate the evolution of spinal deformities in patients suffering from Prader-Willi syndrome; find out which kind of spine deformity predominates regarding genotype and clinical patterns; and evaluate the affect of growth-hormone treatment on the onset and progression of spinal deformities. This was a retrospective longitudinal, clinical, and radiologic study. One hundred forty-five children followed between 1980 and 2006 were studied in 2 referral centers for Prader-Willi syndrome. Genetic testing confirmed the diagnosis in 133 patients. Ninety-three patients (64%) received growth-hormone therapy. For statistical analysis, age-adjusted comparison between groups was performed by using multivariate logistic regression. Mean age of the patients was 10.2 +/- 6.2 years. Sixty-three (43.4%) patients were afflicted with scoliosis. Scoliosis frequency steadily rose with age, and a large majority of patients were affected at skeletal maturity (66.7%). Scoliosis prevalence was not affected by the genotype or by growth-hormone treatment. Patients with higher BMI values had an increased risk of developing a kyphotic deformity in association with scoliosis. We found a statistical association between kyphotic deformity and the need for surgical treatment. Scoliosis is a major concern for patients with Prader-Willi syndrome, and a regular (annual) systematic back examination is mandated. The role of growth-hormone treatment on the natural history of scoliosis could not be determined, and careful monitoring during treatment is recommended.

  5. Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.

    Science.gov (United States)

    Lande, Asgeir; Kroken, Mette; Rabben, Kai; Retterstøl, Lars

    2018-01-01

    The two imprinting syndromes Temple syndrome (TS14) and Prader-Willi syndrome (PWS) share many features in infancy and childhood. TS14 is an important, yet often neglected, differential diagnosis to PWS. We wanted to assess the frequency of TS14 among patients tested for PWS. In all samples submitted to our lab for genetic PWS testing during 2014 and 2015, we consecutively conducted additional analyses for TS14. A total of 143 samples were included. The most frequent indications for testing were developmental delay, overweight, and hypotonia. For TS14 testing, we performed a methylation-sensitive MLPA-kit detecting deletions and methylation aberrations in chromosomal region 14q32. TS14 was confirmed in 3 out of 143 patients (2.1%). In comparison, PWS was also confirmed in three patients. Brief clinical descriptions of the TS14 patients are presented. Temple syndrome is presumably underdiagnosed, and should be considered when testing children for PWS. © 2017 Wiley Periodicals, Inc.

  6. Managing a patient with burning mouth syndrome.

    Science.gov (United States)

    Cheung, Danny; Trudgill, Nigel

    2015-07-01

    A 64-year-old woman presented with an increasing frequency of symptoms of heartburn and retrosternal pain over the last few months, and a constant and intense burning pain affecting her tongue tip, mouth and lips for the past 5 years. She found consuming hot drinks exacerbated the burning oral pain and chewing gum seemed to alleviate some of her symptoms. She thought these oral sensations were caused by frequently licking her finger tips to separate prints in her work in publishing. She had been previously diagnosed with gastro-oesophageal reflux disease (GORD), and her heartburn symptoms had been controlled until recently with lansoprazole 15 mg daily. Her past medical history included irritable bowel syndrome and depression, for which she had been treated with mebeverine and paroxetine for a number of years. She was a non-smoker and did not consume alcohol. Clinical examination was unremarkable with no oral lesions on examination. Her routine laboratory tests, including autoimmune serology, haematinics and thyroid function tests were all within normal limits. She underwent a gastroscopy, which revealed moderate reflux oesophagitis, and following commencing omeprazole 20 mg twice daily, her heartburn resolved. However, her oral burning symptoms were not affected and a diagnosis of burning mouth syndrome (BMS) was made. Following explanation and reassurance concerning the cause of her BMS symptoms, she chose not to receive treatment for this but to access cognitive behavioural therapy in the future if her symptoms worsened.

  7. Increased Risk of Metabolic Syndrome in Patients with Vitiligo.

    Science.gov (United States)

    Ataş, Hatice; Gönül, Müzeyyen

    2017-05-05

    Inflammatory and immune processes can be triggered in vitiligo due to a decreased number of melanocytes and their anti-inflammatory effects. Because of the systemic nature of vitiligo, metabolic abnormalities such as insulin resistance and lipid profile disturbances as well as skin involvement may be observed in vitiligo. To investigate the association between metabolic syndrome and vitiligo. Case-control study. The demographic, clinical and laboratory features in the subjects were compared according to presence of vitiligo and metabolic syndrome [patients (n=63) vs. gender-age matched controls (n=65) and metabolic syndrome positive (n=38) vs. negative (n=90)]. A logistic regression analysis was also used. We identified metabolic syndrome in 24 (38.1%) subjects with vitiligo and 14 (21.5%) subjects without vitiligo (p=0.04). Active vitiligo, segmental vitiligo, an increased duration of vitiligo and an increased percentage in the affected body surface area were determined to be independent predictors of metabolic syndrome [activity of vitiligo: p=0.012, OR (95% CI)=64.4 (2.5-1672); type of vitiligo: p=0.007, OR (95% CI)=215.1 (4.3-10725.8); duration of vitiligo: p=0.03, OR (95% CI)=1.4 (1.1-2.0); percentage of affected body surface area: p=0.07, OR (95% CI)=1.2 (0.98-1.5)]. The risk of developing metabolic syndrome is increased in patients with vitiligo. The poor clinical features of vitiligo, such as active, extended and segmental vitiligo with an increased duration of time, are independent predictors for developing metabolic syndrome.

  8. The identification of Lynch syndrome in Congolese colorectal cancer patients.

    Science.gov (United States)

    Poaty, Henriette; Aba Gandzion, Chandra; Soubeyran, Isabelle; Gassaye, Déby; Peko, Jean Félix; Nkoua Bon, Jean Bernard; Gombé Mbalawa, Charles

    2017-10-01

    We aimed to investigate the prevalence of Lynch syndrome as one of hereditary causes of colorectal cancer (CRC) among young Congolese individuals affected by the CRC, and to define methods for diagnosis in Congo Brazzaville. We conducted a transversal cohort study of 34 patients having a CRC with a family history for a period of eight years. They were selected among 89 CRCs of any type from the Bethesda guidelines criteria combined with pedigrees. Mismatch repair (MMR) genes alterations were researched by immunohistochemistry (IHC). We identified with the Bethesda criteria a total of 38.2% (34/89) patients having familial CRC with a confidence interval (CI) of 95%=[0.34-0.41]. Only 14.7% (5/34) 95% CI=[0.34-2.32] patients showed MMR immunodeficiency involving firstly MLH1 protein then MSH2 protein. These data account for 5.6% (5/89) 95% CI=[0.15-0.33] of patients affected by Lynch syndrome with an earlier median age of 35 years (range 20 to 47 years). The prevalence of Lynch syndrome found in Brazzaville is comparable to that is found in northern countries. The combined Bethesda guidelines, pedigree and IHC is an accessible and good alternative method for the positive diagnosis of Lynch syndrome in current practice in Congo. Copyright © 2017 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  9. Predictors of Death in Contemporary Adult Patients with Eisenmenger Syndrome

    DEFF Research Database (Denmark)

    Kempny, Aleksander; Hjortshøj, Cristel S; Gu, Hong

    2017-01-01

    BACKGROUND: -Eisenmenger syndrome (ES) is associated with substantial morbidity and mortality. There is no consensus, however, on mortality risk stratification. We aimed to investigate survival and predictors of death in a large, contemporary cohort of ES patients. METHODS: -We identified in a mu...

  10. Neuroticism and maladaptive coping in patients with functional somatic syndromes

    DEFF Research Database (Denmark)

    Pedersen, Heidi Frølund; Frostholm, Lisbeth; Jensen, Jens Søndergaard

    2016-01-01

    Objectives. The cognitive-behavioural model of functional somatic syndromes (FSS) proposes a multifactorial aetiology consisting of predisposing, precipitating and perpetuating factors. In this study, we sought to investigate three questions that can be drawn from this model: (1) Do patients...

  11. Management of Nelson's syndrome: observations in fifteen patients.

    NARCIS (Netherlands)

    Kemink, S.A.G.; Grotenhuis, J.A.; Vries, J. de; Pieters, G.F.F.M.; Hermus, A.R.M.M.; Smals, A.G.H.

    2001-01-01

    OBJECTIVE: To analyse the results of different treatment modalities for Nelson's syndrome, which was defined as radiological evidence of a pituitary macroadenoma, fasting plasma ACTH levels of more than 200 pmol/l after stopping glucocorticoid substitution for at least 24 h in a patient who had

  12. ANAESTHETIC CONSIDERATION IN PATIENTS OF DOWN’S SYNDROME

    OpenAIRE

    Sanjeev; Verma; De, Arun; Bibha; Nidhi; Raghwendra; Sangeeta

    2014-01-01

    Down’s syndrome is one of the commonest chromosomal disorders which are associated with several congenital anomalies. Such patients frequently need surgical interference under anesthesia as correction of cardiac anomalies, dental deformities, urological problems and facial deformities etc. But due to associated risk like relative macroglossia, microcephaly, hypoplastic mandible, atlantoaxial instability & supraglottic stenosis make them difficult for endotracheal intubatio...

  13. Collectrin gene screening in Turner syndrome patients with kidney ...

    Indian Academy of Sciences (India)

    Turner syndrome (TS) affects one in 2500–3000 live-born girls, and is the most prevalent female sex chromosomal dis- order in humans, resulting from the loss of all or part of one of the two X chromosomes (Sybert and McCauley 2004). About 50% of TS patients carry a 45, X monosomy, the rest being mosaics or structural ...

  14. Perioperative considerations in the patient with Angelman syndrome.

    Science.gov (United States)

    Bevinetto, Cara M; Kaye, Alan D

    2014-02-01

    Angelman syndrome arises by one of 4 genetic mechanisms. Patients often have craniofacial abnormalities, vagal hypertonia, skeletal muscle atrophy or underdevelopment, a history of seizure disorders, and pharmacodynamic unpredictability. Its pathogenesis, clinical manifestations, diagnosis and treatment options, and perioperative anesthetic considerations are presented. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Gastrointestinal microbiome signatures of pediatric patients with irritable bowel syndrome

    Science.gov (United States)

    The intestinal microbiomes of healthy children and pediatric patients with irritable bowel syndrome (IBS) are not well defined. Studies in adults have indicated that the gastrointestinal microbiota could be involved in IBS. We analyzed 71 samples from 22 children with IBS (pediatric Rome III criteri...

  16. Metabolic Syndrome in Patients attending the Staff Clinic of a ...

    African Journals Online (AJOL)

    Background/objective: Metabolic syndrome (MetS) is characterised by a clustering of cardiometabolic risk factors. It contributes to morbidity and mortality in adults. The objective of the study was to identify new cases and associated factors of MetS in patients attending a tertiary hospital staff clinic. Materials and methods: The ...

  17. Melkersson-Rosenthal syndrome in a patient with tubercular panuveitis

    Directory of Open Access Journals (Sweden)

    Babu Kalpana

    2010-01-01

    Full Text Available We report a rare presentation of Melkersson-Rosenthal syndrome in a patient with tubercular panuveitis. A 45-year-old male being treated with antitubercular therapy for tubercular panuveitis presented with unilateral, non-pitting right upper eyelid edema. Excision biopsy showed granulomatous inflammation involving the lymphatics. Immunohistochemistry confirmed the presence of histiocytes around the lymphatics.

  18. Carpal Tunnel Syndrome in Patient on long Term Hemodialysis - a ...

    African Journals Online (AJOL)

    Pain in hands is a common complaint in patients of end-stage renal disease on long term hemodialysis. This pain can arise from various different etiological factors. We present one such case of 56 years old lady who suffered from pain in the hand due to carpal tunnel syndrome on the side with angioaccess. Carpal tunnel ...

  19. Prevalence of irritable bowel syndrome among psychiatric patients ...

    African Journals Online (AJOL)

    Background: Irritable Bowel Syndrome (IBS) is a chronic gastrointestinal illness characterized by abdominal pain, bloating and bowel disturbance, which may either be constipation or diarrhea with no detectable organic pathologic process. About 70-90% of patients with IBS have psychiatric comorbidity, such as depression, ...

  20. Autism and behavior in adult patients with Dravet syndrome (DS)

    NARCIS (Netherlands)

    Berkvens, J.J.; Veugen, I.; Veendrick-Meekes, M.J.; Snoeijen-Schouwenaars, F.M.; Schelhaas, H.J.; Willemsen, M.H.; Tan, I.Y.; Aldenkamp, A.P.

    2015-01-01

    INTRODUCTION: Autism and behavioral characteristics in adults with Dravet syndrome (DS) have rarely been systematically studied. METHOD: Three scales were used to assess the outcomes of DS in adulthood in terms of autism and behavior. All the adult patients with DS, nine male and four female, aged

  1. Dental management of the Down and Eisenmenger syndrome patient.

    Science.gov (United States)

    Chung, Evelyn M; Sung, Eric C; Sakurai, Kari L

    2004-05-15

    About 40% to 50% of Down syndrome (DS) patients can have significant congenital heart defects such as patent ductus arteriosus, Tetralogy of Fallot, and septal defects. Patients with large septal defects may develop Eisenmenger syndrome (ES), which is defined by the cardiac septal defect and pulmonary hypertension coupled with a reverse right to left shunting of blood flow. DS patients that suffer from this condition require special considerations in the delivery of their dental care to prevent further medical complications or emergencies such as infection, cyanotic episodes, and thromboemboli. Collaboration with the cardiologist is also essential to ensure a complete and comprehensive pre-operative work up. The purpose of this article is to describe the dental management of DS patients with ES under general anesthesia.

  2. Normal muscle strength and fatigability in patients with effort syndromes.

    Science.gov (United States)

    Stokes, M J; Cooper, R G; Edwards, R H

    1988-10-22

    To examine fatigue mechanisms in an unselected series of patients with excess fatigue ("effort syndromes") their muscle function was compared with that of normal subjects. Voluntary performance was assessed with a cycle ergometer to exhaustion and by maximal isometric contractions of the quadriceps femoris. The mean maximal heart rate in patients during ergometry was 89% of the predicted rate, and quadriceps strength was either normal or was inappropriate for the available muscle, which suggested submaximal effort. Contractile performance was examined in the absence of volition with stimulated contractions of the adductor pollicis. During stimulated fatiguing activity patients were neither weaker nor more fatigable than controls; thus the excess fatigue experienced by the patients was not due to a defect of the contractile apparatus. The increased perception of effort must therefore be due to impairment of central rather than peripheral mechanisms. The optimal approach to treatment of effort syndromes combines physical and psychological techniques.

  3. Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment.

    Science.gov (United States)

    Al Kaissi, Ali; Ben Chehida, Farid; Ganger, Rudolf; Klaushofer, Klaus; Grill, Franz

    2015-03-01

    Goldenhar syndrome consists of a combination of unilateral auricular appendages, auricular fistulas, and ocular epibulbar dermoids combined with a unilateral underdevelopment of the craniofacial structures and vertebral abnormalities. We aimed to elicit the underlying spine pathology in a group of patients via tomographic assessment. Hemifacial microsomia, cranial asymmetry, multiple ear tags, skin tags around the mouth and microtia were the most prominent facial features encountered in six patients with Goldenhar syndrome. Torticollis and cervico-thoracic scoliosis were the major deformities encountered in all patients. Thoraco-lumbar scoliosis and kyphoscoliosis were of lesser occurrence. Tomographic studies have been applied to all patients to delineate the underlying pathology. Diverse spectrum of distinctive spine anomalies has been identified. Malsegmentation of the skull base associated with diffuse fusion with the upper cervical vertebrae was the most common spine pathology. Bilateral failure of segmentation, unilateral unsegmented bar and failure of vertebral formation were of lesser occurrence. Strikingly, we observed that the side of the hemifacial microsomia is strongly correlated with that of the craniocervical and the cervical vertebral abnormalities. The importance of this paper is threefold; first, little information is available in the literature regarding the magnitude and the diversity of spine pathology in patients with Goldenhar syndrome. Second, is to alert spine specialists that conventional radiographic assessment of the craniocervical area is an insufficient modality to assess children with syndromic associations. Third, a rotation and flexion deformity of the neck associated with facial asymmetry and/or plagiocephaly should be considered as a syndromic entity rather than a simple physiological deformation.

  4. Cognitive Functions and Depression in Patients with Irritable Bowel Syndrome

    OpenAIRE

    Farup, Per Grønaas; Hestad, Knut

    2015-01-01

    Background. Irritable bowel syndrome (IBS) is associated with depression and depression with impaired cognitive functions. The primary aim was to study associations between depression and cognitive functions in patients with IBS. Methods. IBS (according to the Rome III criteria), cognitive functions (evaluated with a set of neuropsychological tests), and depression (measured with Beck Depression Inventory II and Montgomery-Åsberg Depression Scale) were analysed in patients with idiopathic dep...

  5. Gestational, perinatal and family findings of patients with Patau syndrome

    OpenAIRE

    Rosa, Rafael Fabiano M.; Sarmento, Melina Vaz; Polli, Janaina Borges; Groff, Daniela de Paoli; Petry, Patrícia; Mattos, Vinícius Freitas de; Rosa, Rosana Cardoso M.; Trevisan, Patrícia; Zen, Paulo Ricardo G.

    2013-01-01

    OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, b...

  6. Tubulointerstitial nephritis in a patient with probable autoimmune lymphoproliferative syndrome

    DEFF Research Database (Denmark)

    Glerup, Mia; Herlin, Troels; Rittig, Søren

    2013-01-01

    Autoimmune lymphoproliferative syndrome (ALPS) is caused by a nonmalignant defective Fas-mediated apoptosis. The main clinical manifestations are chronic lymphadenopathy, splenomegaly, and autoimmune cytopenia. Most patients with ALPS have a FAS germline mutation. ALPS has occasionally been......-vessel vasculitis with normal glomeruli and inflammation in the interstitium. The patient responded to prednisolone treatment and obtained a full renal recovery. Symptoms of connective tissue disorder supervened and after the development of more pronounced splenomegaly, a diagnosis of ALPS was confirmed....

  7. Aerobic work capacity in patients with chronic fatigue syndrome.

    OpenAIRE

    Riley, M S; O'Brien, C J; McCluskey, D R; Bell, N P; Nicholls, D P

    1990-01-01

    OBJECTIVE--To determine the aerobic work capacity of patients with the chronic fatigue syndrome and compare it with that of two control groups, and to assess the patients' perception of their level of activity before and during illness. DESIGN--A symptom limited exercise treadmill test with on line gas analysis and blood sampling was used. Subjects were assessed by one investigator, who was blind to the group which they were in. SETTING--Department of medicine, Royal Victoria Hospital, Belfas...

  8. Surgical Treatment of Patients with Lennox-Gastaut Syndrome Phenotype

    OpenAIRE

    Shi-Yong Liu; Ning An; Xiang Fang; Prabhdeep Singh; Joseph Oommen; De Qing Yin; Mei-Hua Yang; Yong Liu; Wei Liao; Chang-Qing Gao; Hui Yang

    2012-01-01

    Lennox-Gastaut syndrome (LGS) is a devastating and refractory generalized epilepsy affecting children and adolescents. In this study we report the results of resective surgery in 18 patients with LGS phenotype who underwent single-lobe/lesionectomy or multilobe resection plus multiple subpial transection and/or callosotomy. After surgery, seven patients became completely seizure-free (Engel Class I) and five almost seizure-free (Engel Class II). Additional four had significant seizure control...

  9. Metabolic syndrome and risk of restenosis in patients undergoing percutaneous coronary intervention

    NARCIS (Netherlands)

    Wouterjukema, J; Monraats, PS; Zwinderman, AH; De Maat, MPM; Kastelein, JJP; Doevendans, PAF; De Winter, RJ; Tio, RA; Frants, RR; Van der Laarse, A; Van der Wall, EE; Jukema, JW

    OBJECTIVE - Patients with metabolic syndrome have increased risk of cardiovascular events. The number of patients With Metabolic syndrome is rapidly increasing, and these patients Often need revascularization. However, only limited data are available on the effect of metabolic syndrome on restenosis

  10. Bromocriptine augmentation therapy in a patient with Cotard's syndrome.

    Science.gov (United States)

    Kondo, Shuko; Hayashi, Hiroshi; Eguchi, Takuya; Oyama, Takanobu; Wada, Tadashi; Otani, Koichi

    2003-06-01

    A 72-year-old female with bipolar I disorder developed Cotard's syndrome, i.e., various delusions of negation accompanied by severe depressive symptoms. She responded neither to the combination of antipsychotic drug and antidepressant nor to the lithium augmentation therapy. However, the delusions and depressive symptoms improved dramatically after the addition of bromocriptine 2.5-5 mg/day to the combination of clomipramine and lithium. This report suggests that bromocriptine augmentation therapy might be effective at least for some patients with Cotard's syndrome in mood disorders.

  11. Small lymphocytic lymphoma in a patient with CREST syndrome.

    Science.gov (United States)

    William, Basem M; Harbert, Tracey; Ganti, Apar K; Bierman, Philip J

    2011-01-01

    We report a case of a 61-year-old man with a history of CREST syndrome (calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) who presented for evaluation of thrombocytopenia. He had evident cervical adenopathy and lymph node biopsy showed small lymphocytic lymphoma (SLL) with evident systemic adenopathy and bone marrow involvement. The patient achieved a complete remission with FCR (fludarabine/cyclophosphamide/rituximab) chemotherapy. About 30 cases of lymphomas are reported in the literature in association with systemic sclerosis. To our knowledge, there are no reports of a small lymphocytic lymphoma (SLL) in association with limited cutaneous systemic sclerosis with classic features of the CREST syndrome.

  12. GERSTMANN’S SYNDROME IN ACUTE STROKE PATIENTS

    Science.gov (United States)

    Zukic, Sanela; Mrkonjic, Zamir; Sinanovic, Osman; Vidovic, Mirjana; Kojic, Biljana

    2012-01-01

    Objective: Gerstmann in 1924. observed in a few patients a concomitant impairment in discriminating their own fingers, writing by hand, distinguishing left from right and performing calculations. He claimed that this tetrad of symptoms constituted a syndromal entity, assigned it to a lesion of the dominant parietal lobe. Since than, Gerstmann`s syndrome (GS) was enigma for neuropsychologists. The aim of this study was to analyze frequency and clinical features of GS among acute stroke patients. Patients and methods: We prospectively analyzed 194 acute stroke patients (average age 65±11.06 years, male 113 (58.2%), female 81 (41.8%) hospitalized at department of Neurology, University Clinical Center tuzla, during the six mounths in 2010. For clinical assessment of agraphia, alexia and acalculia we used Minessota test for differential diagnosis of aphasia’s. Results: Among these acute stroke patients, 59 (30.40%) had alexia, agraphia and acalculia or different combinations of these disorders. two patients (3.4%) had agraphia and acalculia associated with other part of tetrad of GS: fi nger agnosia and left-right disorientation. they both where men, right handed, and cranial computed tomography scan showed ischemic lesion in the left parietal and left temporoparietal lobe. Conclusion: Gerstmann`s syndrome is rare clinical entity, and has the high value in localization and the lesion is mainly localized to angular gyrus of the dominant hemisphere. PMID:23378691

  13. Anaplerosis in Complex Treatment of Patients with Diabetic Foot Syndrome

    Directory of Open Access Journals (Sweden)

    B.G. Bezrodny

    2015-07-01

    Full Text Available The article describes the improvement of anaplerosis in patients with diabetic foot syndrome using skin flaps on vascular pedicle of the perforating vessels. The study involved patients with type 2 diabetes mellitus complicated with diabetic foot syndrome of neuroischemic form and chronic wounds of the lower extremities that do not heal for more than 21 days from the date of occurrence. The wounds were cleaned with ultrasonic cavitation. There was applied bandage with sorption antibacterial remedy base on nanodispersed silicon dioxide. There was applied a drainage vacuum bandage on a wound on the third day (VAC therapy. The flap is forming fitting to the size and configuration of a wound on a foot. Fourteen patients (93 % in the basic group were found to have survived flaps. Long-term follow up in 6 months demonstrated full maintenance of supporting function and good survived skin graft, absence of foot ulcers. In a control group 7 patients had recurrent foot ulcer. Improved techniques of autodermoplasty in patients with diabetic foot syndrome include glycemia control, preparation of a wound using vacuum apparatus bandage. Usage of split-skin graft combined with vacuum apparatus bandage allows close acute and chronic wounds effectively, maintain supporting function of an extremity, decrease in-hospital staying, and improve quality of patient’s life. Adequate foot wound closure prevents high-level amputation of low extremities in diabetic patients.

  14. Friedreich Ataxia and nephrotic syndrome: a series of two patients.

    Science.gov (United States)

    Shinnick, Julianna E; Isaacs, Charles J; Vivaldi, Sharon; Schadt, Kimberly; Lynch, David R

    2016-01-12

    Friedreich Ataxia (FRDA) is a neurodegenerative disorder characterized by gait and balance abnormalities, sensory loss, weakness, loss of reflexes, and ataxia. Previously, two cases of FRDA and Nephrotic Syndrome (NS) have been reported. Here we report two additional individuals with NS and FRDA, providing further evidence for a possible connection between the two diseases and focusing on the neuromuscular responsiveness of one individual to corticosteroid treatment, an effect not previously described in FRDA. We describe two patients with FRDA also presenting with NS. The first patient was diagnosed with FRDA at age 5 and NS at age 7 following the development of periorbital edema, abdominal swelling, problems with urination, and weight gain. The second patient was diagnosed with NS at age 2 after presenting with periorbital edema, lethargy, and abdominal swelling. He was diagnosed with FRDA at age 10. Nephrotic syndrome was confirmed by laboratory testing in both cases and both individuals were treated with corticosteroids. Nephrotic syndrome may occur in individuals with FRDA, but was not associated with myoclonic epilepsy in our patients as previously described. It is unlikely that this association is coincidental given the rarity of both conditions and the association of NS with mitochondrial disease in model systems, though coincidental coexistence is possible. One patient showed neurological improvement following steroid treatment. Although neurological improvement could be attributed to the treatment of NS, we also identified some degree of steroid responsiveness in a series of patients with FRDA but without NS.

  15. Taxane-induced morphea in a patient with CREST syndrome

    Directory of Open Access Journals (Sweden)

    Susan Michele Bouchard

    2010-07-01

    Full Text Available The taxanes, docetaxel and paclitaxel, are microtubule stabilizing chemotherapeutic agents that have demonstrated antineoplastic effects in a variety of solid tumors. They have been linked to the development of localized cutaneous sclerosis in some patients. We present a case of docetaxel-induced cutaneous sclerosis of the lower extremities in a patient with pre-existing CREST syndrome. We propose that patients with a history of limited or diffuse systemic sclerosis should be given taxane chemotherapy with caution, as these patients may have an immunological predisposition for the development of drug-induced morphea.

  16. Taxane-induced morphea in a patient with CREST syndrome.

    Science.gov (United States)

    Bouchard, Susan M; Mohr, Melinda R; Pariser, Robert J

    2010-01-18

    The taxanes, docetaxel and paclitaxel, are microtubule stabilizing chemotherapeutic agents that have demonstrated antineoplastic effects in a variety of solid tumors. They have been linked to the development of localized cutaneous sclerosis in some patients. We present a case of docetaxel-induced cutaneous sclerosis of the lower extremities in a patient with pre-existing CREST syndrome. We propose that patients with a history of limited or diffuse systemic sclerosis should be given taxane chemotherapy with caution, as these patients may have an immunological predisposition for the development of drug-induced morphea.

  17. Tinea Incognita in a Patient with Crest Syndrome: Case Report.

    Science.gov (United States)

    Gorgievska-Sukarovska, Biljana; Skerlev, Mihael; Žele-Starčević, Lidija

    2015-01-01

    Tinea incognita is a dermatophytic infection that is difficult to diagnose, usually modified by inappropriate topical or systemic corticosteroid therapy. We report an extensive case of tinea incognita caused by the zoophilic dermatophyte Trichophyton mentagrophytes (var. granulosa) in a 49-year-old female patient with CREST (Calcinosis; Raynaud phenomenon; Esophageal involvement; Sclerodactyly; Teleangiectasia) syndrome. Immunocompromised patients, as well as patients with keratinization disorders, seem to be especially susceptible to dermatophytic infections with atypical clinical presentation that is sometimes bizarre and difficult to recognize. Therefore, close monitoring and mycological skin examination is recommended in order to avoid misdiagnosis and to give the patient the best chance of recovery.

  18. ALGORITHM OF OVULATION INDUCTION IN PATIENTS WITH POLYCISTIC OVARY SYNDROME.

    Science.gov (United States)

    Bjelica, Artur; Bjelanović, Jelena; Milić, Natasa; Mladenović Segedi, Ljiljana; Ilić, Đorde; Dimitrijević, Jelena

    2016-01-01

    Polycystic ovary syndrome is the most frequent endocrine disturbance in the reproductive period of women's life and the most frequent cause of anovulatory infertility. Ovulation and pregnancy in patients having polycystic ovary syndrome may be a result of a wide range of therapeutic options, and the treatment assumes a gradual approach--from simple noninvasive to expensive and demanding procedures. A systematic literature survey concerning the efficiency of particular ovulation induction methods in respect of the reproductive outcome was carried out with the aim of establishing the algorithm for ovulation induction in infertile patients having polycystic ovary syndrome. The search was confined to clinical investigations performed on human subjects, reported in English in the period from the beginning of 2010 to June of 2014. As a conclusion of this systematic survey of the efficiency of ovulation induction methods, which confirms and supplements the knowledge in this field, it is possible to form the algorithm for ovulation induction in infertile patients having polycystic ovary syndrome, consisting of the following subsequent steps: 1) modification of life style, 2) induction with clomiphene citrate 3) use of metformin, 4) use ofaromatase inhibitors, 5) application ofgonadotropins and laparoscopic ovarian drilling--as a second-line treatment, and 6) assisted reproductive techniques.

  19. [Asthma-COPD overlap syndrome among patients with stable COPD].

    Science.gov (United States)

    Nguyen, M-S; Nguyen Dang, D; Schleich, F; Manise, M; Corhay, J-L; Louis, R

    2015-01-01

    The purpose of this research was to describe the frequency and characteristics of the overlap syndrome among stable COPD patients (stage 2 to 4 according to GOLD). Material and method: We studied 46 patients with stable COPD recruited from the outpatient clinic of the CHU of Liege from May 2013 to April 2014. Definition of the overlap syndrome was based on the coexistence of post-bronchodilation FEV1/FVC /= 200 ml and >/= 12% after bronchodilation), 2) eosinophilic inflammation : sputum eosinophils ≥ 3%,blood eosinophils ≥ 400/μl, or FENO ≥ 45 ppb, 3) clinical history of airway allergy, or total serum IgE ≥ 113 KU/l, or RAST ≥ 0,35 KU/l against major aeroallergens. 37% patients had the COPD-asthma overlap syndrome and this group had a higher CAT score reflecting more severe symptoms (24,6 ± 8,1 vs 19,4 ± 8, p overlap group (97 ± 24%), but altered in the pure COPD group (80 ± 20%), p overlap syndrome and they are more symptomatic without any evidence of more severe airway obstruction.

  20. [Chronic fatigue syndrome in cancer patients. Diagnostic and treatment options].

    Science.gov (United States)

    Jedlicka, F; Elbl, L; Vásová, I; Tomásková, I; Vorlícek, J; Spinar, J

    2007-09-01

    Fatigue is the most frequent symptom accompanying a cancer disease and its treatment according to the visual analogue scale. Fatigue is reported by as many as 100% of patients in the course of cancer treatment and still by 40 to 70% of patients one year after the treatment has finished. This symptom has become known under the designation of "cancer-related fatigue" in the English language literature on the subject. The knowledge of the causes and mechanisms of fatigue is relatively limited. Based on practical guidelines, an algorithm has been used to detect, evaluate and influence by treatment the syndrome of fatigue caused by a cancer disease. Research in the field has been focused on both pharmacological and non-pharmacological approach. The highest efficiency in the treatment of fatigue syndrome has been recorded for the treatment of anaemia with erythropoietin, while aerobic exercise programmes have proven to be most efficient among the behavioural measures. In spite of a dramatically growing interest in the above problem in the past decade, a number of issues continue unresolved with respect to chronic fatigue syndrome related to a cancer disease or to its treatment. Based on their own experience and on the relevant literature, the authors deal with issues of chronic fatigue syndrome and the options for its diagnosing and treatment in patients undergoing cancer treatment.

  1. Prone position in patients with acute respiratory distress syndrome

    Science.gov (United States)

    Setten, Mariano; Plotnikow, Gustavo Adrián; Accoce, Matías

    2016-01-01

    Acute respiratory distress syndrome occupies a great deal of attention in intensive care units. Despite ample knowledge of the physiopathology of this syndrome, the focus in intensive care units consists mostly of life-supporting treatment and avoidance of the side effects of invasive treatments. Although great advances in mechanical ventilation have occurred in the past 20 years, with a significant impact on mortality, the incidence continues to be high. Patients with acute respiratory distress syndrome, especially the most severe cases, often present with refractory hypoxemia due to shunt, which can require additional treatments beyond mechanical ventilation, among which is mechanical ventilation in the prone position. This method, first recommended to improve oxygenation in 1974, can be easily implemented in any intensive care unit with trained personnel. Prone position has extremely robust bibliographic support. Various randomized clinical studies have demonstrated the effect of prone decubitus on the oxygenation of patients with acute respiratory distress syndrome measured in terms of the PaO2/FiO2 ratio, including its effects on increasing patient survival. The members of the Respiratory Therapists Committee of the Sociedad Argentina de Terapia Intensiva performed a narrative review with the objective of discovering the available evidence related to the implementation of prone position, changes produced in the respiratory system due to the application of this maneuver, and its impact on mortality. Finally, guidelines are suggested for decision-making. PMID:27925054

  2. Prosthetic management of a patient with Treacher Collins syndrome

    Directory of Open Access Journals (Sweden)

    Madhan R

    2006-01-01

    Full Text Available Treacher Collins syndrome encompasses a group of closely related defects of the head and neck. It is a rare syndrome characterized by bilaterally symmetrical abnormalities derived from the first and second brachial arches and the nasal placode. It is an autosomal dominant disorder and its occurence ranges from 1 in 25,000 to 1 in 50,000 live births. The facial appearance of these patients can be improved by either surgical or prosthetic rehabilitation. In this case report we are presenting the features of a 13-year-old boy with Treacher Collins syndrome. A multidisplinary approach was followed in managing the situation. The various treatment options and the steps involved in making an auricular prosthesis are also discussed.

  3. Prevalence of the metabolic syndrome in patients with acute coronary syndrome in six middle eastern countries.

    Science.gov (United States)

    Al Suwaidi, Jassim; Zubaid, Mohammad; El-Menyar, Ayman A; Singh, Rajvir; Rashed, Wafa; Ridha, Mustafa; Shehab, Abdulla; Al-Lawati, Jawad; Amin, Haitham; Al-Mottareb, Ahmed

    2010-11-01

    The objective of this study was to evaluate the prevalence and effect of the metabolic syndrome (MetS) on patients with acute coronary syndrome (ACS) in six Middle Eastern countries using the new definition of MetS. Analysis of the Gulf Registry of Acute Coronary Events (Gulf RACE), which included 8716 consecutive patients hospitalized with ACS, was conducted and patients were divided into two groups: patients with and patients without the MetS. Overall, 46% of patients had MetS. Patients with MetS were more likely to be female and less likely to be smokers. In-hospital mortality and cardiogenic shock were comparable between the two groups, although MetS patients were more likely to have congestive heart failure and recurrent ischemia. In ST-elevation myocardial infarction, MetS was also associated with increased risk of recurrent myocardial infarction and stroke. Using the recent MetS definition, MetS is highly prevalent among Middle Eastern patients presenting with ACS. MetS is associated with higher-risk profile characteristics and increased risk for development of heart failure and recurrent myocardial ischemia without an increase in hospital mortality. © 2010 Wiley Periodicals, Inc.

  4. [Eye contact in adult patients with Asperger syndrome].

    Science.gov (United States)

    Roy, M; Wolfgang, D

    2015-05-01

    It is unclear if individuals with autism spectrum disorders rarely hold direct eye contact because eyes are unimportant for them, or if it is actively avoided. The aim of the current investigation was to gain a better understanding for their views on direct eye contact by exploring adult patients with Asperger syndrome. 63 adult patients with Asperger syndrome (28 females, 35 males, 21 - 62 years old) were explored about using and sensing direct eye contact by means of a standardised questionnaire. 87 % of investigated patients depict direct eye contact as being disagreeable. They describe it as arduous and distracting. Therefore they mostly actively avoid direct eye contact. The here gained knowledge about aversion towards direct eye contact in individuals with autism should lead to a stronger understanding and acceptance of this problem in the non-autistic population. © Georg Thieme Verlag KG Stuttgart · New York.

  5. Endocrine abnormalities in patients with Jacobsen (11q-) syndrome.

    Science.gov (United States)

    Haghi, Marjan; Dewan, Asheesh; Jones, Kenneth Lee; Reitz, Richard; Jones, Christopher; Grossfeld, Paul

    2004-08-15

    Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Short stature has been reported in this syndrome, however very few of these patients have undergone endocrine evaluation. Serum insulin-like growth factor-1 (IGF-1) levels are an indirect indicator of growth hormone activity and are a useful initial screening tool in the assessment of an individual's growth hormone axis. We studied nine children with JS, eight of whom had short stature. Four out of eight children with short stature (50%) had low IGF-1 values, with three low for age and one low for Tanner stage. Four out of six males (67%) had cryptorchidism, a potential sign of hypogonadism. We conclude that low IGF-1 is common in patients with JS and short stature, and that growth hormone status and possibly hypothalamic-pituitary function should be evaluated in this patient population.

  6. Clinical and molecular characterization of patients with Jacobsen syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Penny, L.A.; Aquila, M.; Iones, O.W. [Univ. of California San Diego, La Jolla, CA (United States)] [and others

    1994-09-01

    Jacobsen (11q-) syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical features include mental retardation, trigonocephaly, facial dysmorphism, cardiac defects and thrombocytopenia, among others. We studied 14 Jacobsen syndrome patients with de novo terminal deletions of 11q. The deletions were characterized in a loss of heterozygosity analysis using polymorphic dinucleotide repeats. There was no preference in the parental origin of the deleted chromosome. Seven patients with the largest deletions, extending from 11q23.3-qter, appear to share the same breakpoint, between D11S924 and D11S1341. Terminal deletions extending proximal to this common breakpoint may be lethal. The remaining seven patients had various smaller deletions of 11q23.3, 11q24 or 11q25. Three patients with small terminal deletions had several major features of Jacobsen syndrome, including facial dysmorphism, cardiac defects and thrombocytopenia, suggesting that the genes responsible for these features lie near the end of the chromosome. These three patients did not have trigonocephaly, suggesting that, if hemizygosity for a single gene is responsible, it may lie proximal to D11S934.

  7. Posterior reversible encephalopathy syndrome in patient

    African Journals Online (AJOL)

    abp

    2015-05-26

    neuroradiologic condition, not commonly reported in the literature. PRES is an uncommon complication of severe preeclampsia/eclampsia. We report the management of one patient with postpartum preeclampsia as an.

  8. Safety and efficacy of angioplasty with intracoronary stenting in patients with unstable coronary syndromes. Comparison with stable coronary syndromes

    Directory of Open Access Journals (Sweden)

    Luís C. L. Correia

    2000-06-01

    Full Text Available OBJECTIVE: To assess safety and efficacy of coronary angioplasty with stent implantation in unstable coronary syndromes. METHODS: Retrospective analysis of in-hospital and late evolution of 74 patients with unstable coronary syndromes (unstable angina or infarction without elevation of the ST segment undergoing coronary angioplasty with stent placement. These 74 patients were compared with 31 patients with stable coronary syndromes (stable angina or stable silent ischemia undergoing the same procedure. RESULTS: No death and no need for revascularization of the culprit artery occurred in the in-hospital phase. The incidences of acute non-Q-wave myocardial infarction were 1.4% and 3.2% (p=0.6 in the unstable and stable coronary syndrome groups, respectively. In the late follow-up (11.2±7.5 months, the incidences of these events combined were 5.7% in the unstable coronary syndrome group and 6.9% (p=0.8 in the stable coronary syndrome group. In the multivariate analysis, the only variable with a tendency to significance as an event predictor was diabetes mellitus (p=0.07; OR=5.2; 95% CI=0.9-29.9. CONCLUSION: The in-hospital and late evolutions of patients with unstable coronary syndrome undergoing angioplasty with intracoronary stent implantation are similar to those of the stable coronary syndrome group, suggesting that this procedure is safe and efficacious when performed in unstable coronary syndrome patients.

  9. Vitamin K status in patients with short bowel syndrome.

    Science.gov (United States)

    Krzyżanowska, Patrycja; Książyk, Janusz; Kocielińska-Kłos, Małgorzata; Banaś, Elżbieta; Kaleta, Małgorzata; Popińska, Katarzyna; Szczapa, Tomasz; Walkowiak, Jarosław

    2012-12-01

    Available evidence suggests that patients with short bowel syndrome (SBS) might be at risk of vitamins A, D, E and B(1) deficiency. However, there is little clinical data describing the vitamin K status. Therefore, in the present study we aimed to assess the body resources of vitamin K in a subset of SBS patients. The study comprised 33 patients aged 1 month to 16 years. PIVKA-II concentrations were determined in all subjects. In all studied subjects, coagulation parameters were normal. PIVKA-II levels indicative of vitamin K deficiency was found in 3 (9.1%) SBS patients. One patient had been receiving an additional intravenous vitamin K dose of 5 mg/week. In all SBS patients with cirrhosis and cholestasis, PIVKA-II concentrations were low (vitamin K several times a month. Vitamin K deficiency may appear in SBS patients. Copyright © 2012. Published by Elsevier Ltd.

  10. Patients with and without Posttransplant Capillary Leak Syndrome

    Directory of Open Access Journals (Sweden)

    Håkon Reikvam

    2015-01-01

    Full Text Available Allogeneic stem cell transplantation is commonly used in the treatment of younger patients with severe hematological diseases, and endothelial cells seem to be important for the development of several posttransplant complications. Capillary leak syndrome is a common early posttransplant complication where endothelial cell dysfunction probably contributes to the pathogenesis. In the present study we investigated whether the pretreatment serum metabolic profile reflects a risk of posttransplant capillary leak syndrome. We investigated the pretransplant serum levels of 766 metabolites for 80 consecutive allotransplant recipients. Patients with later capillary leak syndrome showed increased pretherapy levels of metabolites associated with endothelial dysfunction (homocitrulline, adenosine altered renal regulation of fluid and/or electrolyte balance (betaine, methoxytyramine, and taurine and altered vascular function (cytidine, adenosine, and methoxytyramine. Additional bioinformatical analyses showed that capillary leak syndrome was also associated with altered purine/pyrimidine metabolism (i.e., metabolites involved in vascular regulation and endothelial functions, aminoglycosylation (possibly important for endothelial cell functions, and eicosanoid metabolism (also involved in vascular regulation. Our observations are consistent with the hypothesis that the pretransplant metabolic status can be a marker for posttransplant abnormal fluid and/or electrolyte balance.

  11. Cochlear implantation in patient with Dandy-walker syndrome.

    Science.gov (United States)

    de Oliveira, Adriana Kosma Pires; Hamerschmidt, Rogerio; Mocelin, Marcos; Rezende, Rodrigo K

    2012-07-01

     Dandy Walker Syndrome is a congenital abnormality in the central nervous system, characterized by a deficiency in the development of middle cerebelar structures, cystic dilatation of the posterior pit communicating with the fourth ventricle and upward shift of the transverse sinuses, tentorium and dyes. Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment.  To describe a case of female patient, 13 years old with a diagnosis of this syndrome and bilateral hearing loss underwent cochlear implant surgery under local anesthesia and sedation.  CGS, 13 years old female was referred to the Otolaryngological Department of Otolaryngology Institute of Parana with a diagnosis of "Dandy-Walker syndrome" for Otolaryngological evaluation for bilateral hearing loss with no response to the use of hearing aids. Final Comments: The field of cochlear implants is growing rapidly. We believe that the presence of Dandy-Walker syndrome cannot be considered a contraindication to the performance of cochlear implant surgery, and there were no surgical complications due to neurological disorders with very favorable results for the patient who exhibits excellent discrimination. It has less need for lip reading with improvement in speech quality.

  12. Cochlear implantation in patient with Dandy-walker syndrome

    Directory of Open Access Journals (Sweden)

    Oliveira, Adriana Kosma Pires de

    2012-01-01

    Full Text Available Introduction: Dandy Walker Syndrome is a congenital abnormality in the central nervous system, characterized by a deficiency in the development of middle cerebelar structures, cystic dilatation of the posterior pit communicating with the fourth ventricle and upward shift of the transverse sinuses, tentorium and dyes. Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment. Objectives: To describe a case of female patient, 13 years old with a diagnosis of this syndrome and bilateral hearing loss underwent cochlear implant surgery under local anesthesia and sedation. Case Report: CGS, 13 years old female was referred to the Otolaryngological Department of Otolaryngology Institute of Parana with a diagnosis of "Dandy-Walker syndrome" for Otolaryngological evaluation for bilateral hearing loss with no response to the use of hearing aids. Final Comments: The field of cochlear implants is growing rapidly. We believe that the presence of Dandy-Walker syndrome cannot be considered a contraindication to the performance of cochlear implant surgery, and there were no surgical complications due to neurological disorders with very favorable results for the patient who exhibits excellent discrimination. It has less need for lip reading with improvement in speech quality.

  13. Joubert syndrome: Clinical and radiological characteristics of nine patients

    Directory of Open Access Journals (Sweden)

    Ahmed Farag Elhassanien

    2013-01-01

    Full Text Available Background: Joubert Syndrome (JS is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. Aim of the Study: To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome. Methods: This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records. Results: Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs. Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients. Conclusion: JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation.

  14. Cochlear implantation in pediatric patients with Cockayne Syndrome.

    Science.gov (United States)

    Van Wyhe, Renae D; Emery, Claudia V; Williamson, Robert A

    2018-03-01

    Cockayne Syndrome (CS) is a rare, autosomal recessive disorder characterized by a spectrum of phenotypic abnormalities, including progressive sensorineural hearing loss (SNHL) that involves both peripheral and central components. To date, a single series of CS patients undergoing cochlear implant (CI) placement has been reported; this study reports on additional previously unreported pediatric CI recipients. Subjective benefits were noted early after activation in both patients, and speech perception scores improved over time as well, varying from 42 to 70% (versus 0-12% previously). Thus, we report that cochlear implantation in pediatric patients with CS can be effective in the management of progressive SNHL. Copyright © 2017. Published by Elsevier B.V.

  15. Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.

    OpenAIRE

    Kuznetzova, T; Baranov, A; Schwed, N; Ivaschenko, T; Malet, P; Giollant, M; Savitsky, G A; Baranov, V

    1995-01-01

    Cytogenetic and DNA analysis in 12 people with stigmata of Turner's syndrome was carried out. Cytogenetic analysis of these patients showed two subjects with 46,X, i(Xq) karyotypes, one with 45,X/46,X, i(Xq), one with 46,X,t(X;Y), and eight with 45,X/46,X,mar. Molecular analysis of DNA samples was performed in nine out of 12 patients with marker chromosomes. PCR analysis with oligoprimers specific for SRY, DYZ1, or DYZ3 loci identified Y chromosome material in five patients in the latter grou...

  16. Decreased sweating in seven patients with Laron syndrome

    DEFF Research Database (Denmark)

    Main, K M; Price, D A; Savage, M O

    1993-01-01

    Previous studies have shown that sweat secretion was reduced in patients with GH deficiency and increased during GH treatment, indicating an influence of GH on sweat gland function. Thus, patients with GH deficiency have impaired thermoregulation. We report on sweat secretion rates (SSRs) in seven......). These observations further supported the hypothesis that sweat gland function in humans is under the influence of the GH-insulin-like growth factor-I axis. It remains to be seen whether the decrease in SSR also leads to altered thermoregulation in patients with Laron syndrome....

  17. Chest wall syndrome among primary care patients: a cohort study

    Directory of Open Access Journals (Sweden)

    Verdon François

    2007-09-01

    Full Text Available Abstract Background The epidemiology of chest pain differs strongly between outpatient and emergency settings. In general practice, the most frequent cause is the chest wall pain. However, there is a lack of information about the characteristics of this syndrome. The aims of the study are to describe the clinical aspects of chest wall syndrome (CWS. Methods Prospective, observational, cohort study of patients attending 58 private practices over a five-week period from March to May 2001 with undifferentiated chest pain. During a one-year follow-up, questionnaires including detailed history and physical exam, were filled out at initial consultation, 3 and 12 months. The outcomes were: clinical characteristics associated with the CWS diagnosis and clinical evolution of the syndrome. Results Among 24 620 consultations, we observed 672 cases of chest pain and 300 (44.6% patients had a diagnosis of chest wall syndrome. It affected all ages with a sex ratio of 1:1. History and sensibility to palpation were the keys for diagnosis. Pain was generally moderate, well localised, continuous or intermittent over a number of hours to days or weeks, and amplified by position or movement. The pain however, may be acute. Eighty-eight patients were affected at several painful sites, and 210 patients at a single site, most frequently in the midline or a left-sided site. Pain was a cause of anxiety and cardiac concern, especially when acute. CWS coexisted with coronary disease in 19 and neoplasm in 6. Outcome at one year was favourable even though CWS recurred in half of patients. Conclusion CWS is common and benign, but leads to anxiety and recurred frequently. Because the majority of chest wall pain is left-sided, the possibility of coexistence with coronary disease needs careful consideration.

  18. Comorbidity in patients with Dhat syndrome: a nationwide multicentric study.

    Science.gov (United States)

    Grover, Sandeep; Avasthi, Ajit; Gupta, Sunil; Dan, Amitava; Neogi, Rajarshi; Behere, Prakash B; Lakdawala, Bhavesh; Tripathi, Adarsh; Chakraborty, Kaustav; Sinha, Vishal; Bhatia, Manjeet Singh; Pattojoshi, Amrit; Rao, T S S; Rozatkar, Abhijit

    2015-06-01

    There are limited numbers of studies on Dhat syndrome. Major limitations of the existing literature are heterogeneous assessment methods used to describe the comorbidity and small sample size from isolated centers. To assess comorbidity with a common methodology in patients with Dhat syndrome from multiple centers across India. Using a cross-sectional design, this multicentric study involved assessment of 780 male patients, aged more than 16 years, across 15 study centers. ICD-10 criteria (for evaluation of psychiatric morbidity and sexual dysfunction) About one-third (32.8%) of the cases had no comorbidity. One-fifth (20.5%) of the patients had comorbid depressive disorders and another one-fifth (20.5%) had comorbid neurotic, stress-related and somatoform disorders. Half (51.3%) of the study sample had comorbid sexual dysfunction. When various combinations of comorbidities were evaluated, it was seen that more than one-fourth (28.7%) of the patients had only comorbid sexual dysfunction and one-sixth (15.9%) had only comorbid depressive/anxiety disorders. A little more than one-fifth (22.6%) had comorbidity of both sexual dysfunction and depressive/anxiety disorders. Comorbid sexual dysfunction is seen in half of the cases of Dhat syndrome, and it is more common than comorbid depressive and anxiety disorders. © 2015 International Society for Sexual Medicine.

  19. Cataract surgery in patients with pseudoexfoliation syndrome: current updates

    Directory of Open Access Journals (Sweden)

    Fontana L

    2017-07-01

    Full Text Available Luigi Fontana, Marco Coassin, Alfonso Iovieno, Antonio Moramarco, Luca Cimino Ophthalmology Unit, Arcispedale Santa Maria Nuova – IRCCS, Reggio Emilia, Italy Abstract: Pseudoexfoliation is a ubiquitous syndrome of multifactorial origin affecting elderly people by increasing the risk of cataract and secondary glaucoma development. Despite modern techniques and technologies for cataract surgery, pseudoexfoliation syndrome represents a challenge for surgeons because of the increased weakness of the zonular apparatus and limited pupil dilation. Due to the inherent difficulties during surgery, the risk of vitreous loss in these patients is several times higher than in cataract patients without pseudoexfoliation. Using currently available surgical devices (ophthalmic viscosurgical device, iris retractors and ring dilators, capsular tension ring, etc., the risk of intraoperative complications may be much reduced, allowing the surgeon to handle difficult cases with greater confidence and safety. This review analyzes the methodologic approach to the patient with zonular laxity with the aim of providing useful advices to limit the risks of intraoperative and postoperative complications. From the preoperative planning, to the intraoperative management of the small pupil and phacodonesis, and to the postoperative correction of capsule phimosis and intraocular lens dislocation, a step approach to the surgical management of pseudoexfoliation patients is illustrated. Keywords: pseudoexfoliation syndrome, cataract surgery, zonular laxity, intraocular lens implant, complications

  20. Taurodontism and learning disabilities in patients with Klinefelter syndrome.

    Science.gov (United States)

    Schulman, Gary S; Redford-Badwal, Deborah; Poole, Andrew; Mathieu, Gregory; Burleson, Joseph; Dauser, Deborah

    2005-01-01

    The purpose of this descriptive clinical study was to determine the prevalence rates of taurodontism and learning disabilities in a sample of patients with Klinefelter syndrome. Questionnaires and dental radiographs of Klinefelter syndrome patients were obtained and analyzed using previously published methods. Prevalence rates were determined for taurodontism and learning disabilities in the sample population and compared to the general population. Statistical analyses included a Fisher's exact 2-sided test to compare the prevalence rates to that found in the general population and subsequent determination of the positive predictive value. Taurodontism was found in 75% of the 24 participants. Eighty-three percent of the participants reported having a learning disability. These rates are significantly higher than the general population, as reported in the literature. The positive predictive value for Klinefelter syndrome, given a male patient with taurodontism and a learning disability, is 84%. In this case, the dentist should recommend karyotyping to the patient, parent, or physician. This demonstrates how important it is for dentists to understand and assist physicians in the diagnosis of genetic disorders.

  1. 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.

  2. Acute flaccid paraparesis (cauda equina syndrome in a patient with Bardet–Biedl syndrome

    Directory of Open Access Journals (Sweden)

    Vibhu Krishnan Viswanathan

    2017-01-01

    Full Text Available Bardet–Biedl syndrome (BBS is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously.

  3. of patients with polycystic ovarian syndrome

    African Journals Online (AJOL)

    2012-07-01

    Jul 1, 2012 ... respectively. These rates slightly increase, even in non- obese women, with PCOS.3. In addition, insulin resistance and hyperinsulinaemia commonly occur in patients with PCOS. In these cases, the rate of IGT and diabetes mellitus type 2 is 16-35% and 5-17%, respectively. These rates slightly increase,.

  4. Ocular Findings in Acquired Immunodeficiency Syndrome Patients ...

    African Journals Online (AJOL)

    Material and Methods: All consecutive adult Seropositive HIV/AIDS patients of PEPFAR Clinic at the Lagos University Teaching Hospital between February 1st - March ... Participants were examined according to standard protocol comprising visual acuity, intraocular pressure, anterior segment examination with slit lamp ...

  5. A Clinical Scoring System for Distinguishing Patients With Coincident Cubital Tunnel Syndrome Among Patients With Carpal Tunnel Syndrome.

    Science.gov (United States)

    Koh, Justin; Azari, Kodi K; Benhaim, Prosper

    2017-01-01

    Background: Coincident carpal and cubital tunnel syndromes present a diagnostic challenge, exacerbated by the limitations of nerve conduction study (NCS) for confirming cubital tunnel syndrome. This study develops a diagnostic scoring system, the Koh-Benhaim (KB) score, to identify patients with coincident compression neuropathies. Methods: A retrospective review of 515 patients was performed from patients surgically treated for carpal and/or cubital tunnel release. These patients were divided as patients with isolated carpal tunnel syndrome (n = 337) or coincident carpal and cubital tunnel syndromes (n = 178), then characterized according to demographics, medical history, physical examination, and NCS results. Univariate and multivariate logistic regression identified predictors of coincident neuropathy. A clinical score was constructed by integerizing regression coefficients of predictive factors. Receiver operating characteristic (ROC) curves were generated for each iteration of the score. Sensitivities, specificities, and positive and negative predictive values were calculated to identify the best cutoff value. Results: Decreased intrinsic muscle strength, decreased ulnar sensation, positive elbow flexion test, positive cubital tunnel Tinel's sign, and abnormal NCS result were selected. The cutoff value for high risk of coincident compression was 3 points: positive predictive value, 82.9% and specificity, 93.4%. Model performance was very good-ROC area under the curve of 0.917. Conclusions: A KB score of 3 or greater represents high risk of coincident cubital tunnel compression. The variables involved are routinely used to assess the cubital tunnel, and all component factors of the KB score were of equivalent clinical weight in assessing patients with potential coincident compression neuropathy.

  6. Deep sedation for dental treatment in a Down syndrome patient with Eisenmenger syndrome: A case report

    OpenAIRE

    Chi, Seong In; Kim, Hyun Jeong; Seo, Kwang-Suk

    2016-01-01

    Eisenmenger syndrome (ES) is characterized by pulmonary arterial hypertension and right-to-left shunting. The signs and symptoms of ES include cyanosis, shortness of breath, fatigue, hemoptysis, and sudden death. In patients with ES, it is important that the systemic and pulmonary circulations be properly distributed and maintained. General dental treatment is not known to be particularly dangerous. To control pain and anxiety, local anesthetics without epinephrine are usually recommended. Ho...

  7. [Pseudomeigs syndrome in a patient with Krukenberg's tumor].

    Science.gov (United States)

    Bayod, M J Herráiz; Carlón, M Elorz; Idoate, M A

    2007-01-01

    We report the case of a fiftyone-year-old woman with a past medical history of Linfoma no Hodking and a gastric adenocarcinoma with signet ring cells. She came to our institution with a twenty month history of dysnea secondary to pleural effussion, bilateral lower extremity edema and probably had ascitis. On CT and US two bilateral pelvic masses were found and biopsied. The anatomopathological analysis showed bilateral ovarian implants from signet ring cell adenocarcinoma (Krukenberg tumor). This patient developed a PseudoMeigs syndrome consisting on malignant ovarian tumor asociated with ascitis and pleural effusion without malignant cells. Oncological patients who present with ascitis and benign pleural effusion, the diagnosis of PseudoMeigs syndrome should be considered.

  8. Eosinophilic Enteritis with Ascites in a Patient with Overlap Syndrome

    Directory of Open Access Journals (Sweden)

    Spyros Aslanidis

    2009-01-01

    Full Text Available Gastrointestinal involvement is frequent in patients with systemic lupus erythematosus (SLE. Eosinophilic gastroenteritis, however, has only rarely been described in rheumatological conditions, despite its reported connection to autoimmune diseases, such as hypereosinophilic syndrome, vasculitides, and systemic mastoidosis. It presents typically with abdominal pain and diarrhea and is only exceptionally associated with ascites. Diagnosis can be problematic, as several other clinical conditions (malignancies, infection/tuberculosis, and inflammatory bowel diseases have to be ruled out. It is basically a nonsurgical disease, with excellent recovery on conservative treatment. We report the rare case of a young woman with overlap syndrome who presented with abdominal pain and ascites. The diagnosis of eosinophilic enteritis was made based on clinical, radiological, and laboratory criteria. The patient was treated with corticosteroids with excellent response.

  9. Remote clinical prognosis in patients with coronary X syndrome

    Directory of Open Access Journals (Sweden)

    Sebov D.M.

    2015-09-01

    Full Text Available The article analyzes data of 3234 coronary angiographies with established coronary X syndrome (CXS in 217 cases, herewith expressed tortuosity of coronary arteries (ETCA was found out in 148 (more than 2/3 of cases. A 5-years’ analysis of cardio-vascular events (CVE in patients with CXS in comparison with the group of IHD patients and initial atherosclerosis of coronary arteries was made. Absence of reliable difference of developing severe cardio-vascular events (SCVE bet¬ween patients with initial atherosclerosis and CXS was proved. Risk of CVE development was significantey higher in patients with ETCA, OR=4,93; 95% (0,62; 3929. Patients with CXS had higher risk of severe arrhythmias development as compared with IHD patients with initial atherosclerosis: OR=2,36 (1,01; 5,56. There was no reliable difference between lethality of any causes and number of coronary interventions in all groups.

  10. Weight loss improves renal hemodynamics in patients with metabolic syndrome

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    Danielle Guedes Andrade Ezequiel

    2012-03-01

    Full Text Available OBJECTIVE: We investigated the impact of weight loss on urinary albumin excretion (UAE and creatinine clearance in obese patients with metabolic syndrome. METHODS: Thirty-five obese patients undertook a 12-week calorie-restricted diet. The patients underwent a metabolic (oral glucose tolerance test, plasma lipids, and uric acid and renal hemodynamic evaluations (creatinine clearance and urinary albumin excretion before (phase 1, and after the 12-week diet (phase 2. RESULTS: After the dietary intervention, the subjects were divided into two groups: patients who achieved the target weight reduction (R: responders, n = 14, and patients who did not (NR: non-responders, n = 21. The patients in Group R showed an improvement in lipid profile, a decrease in UAE (median = 162.5 mg/24 hours, range: 0.8 to 292 mg/24 hours, at phase 1 versus 10.4 mg/24 hours, range: 1.6 to 22.4 mg/24 hours, at phase 2, and a significant reduction in creatinine clearance (121.4 ± 66.5 mL/min. in phase 1 to 92.9 ± 35.6 mL/min. at the end of phase 2, p = 0.001. In Group NR, no statistically significant differences were observed between phases 1 and 2. CONCLUSION: Body weight reduction has a positive impact on renal hemodynamics, decreasing urinary albumin excretion as well as glomerular hyperfiltration in obese patients with metabolic syndrome.

  11. Prevalence of metabolic syndrome among patients with Schizophrenia in Palestine

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    Sweileh Waleed M

    2012-12-01

    Full Text Available Abstract Background Metabolic syndrome (MS is a cluster of the most dangerous cardiac risk factors and is associated with high mortality. Ethnic differences in metabolic syndrome (MS criteria and prevalence rates have been reported. The purpose of this study was to investigate the MS prevalence among patients with schizophrenia in Palestine. Methods We recruited 250 patients with schizophrenia from 4 psychiatric primary healthcare centers in Northern Palestine. The MS prevalence was assessed based on National Cholesterol Education Program Adult Treatment Panel III Adapted criteria. Results The overall MS prevalence was 43.6%, with 39% in male and 55.9% in female patients. On average, the study patients had 2.3 ± 1.3 metabolic abnormalities. Univariate analysis showed that MS was significantly higher with older age, female gender, longer duration of the illness, smoking, abdominal obesity, high systolic and diastolic blood pressure, high triglycerides, low HDL-C, and high fasting plasma glucose. Multiple logistic regression analysis showed that only systolic blood pressure, high triglycerides, high fasting plasma glucose, and low HDL-C were significant predictors of MS in schizophrenic patients. Conclusions MS is common among Arab patients with schizophrenia. Patients with schizophrenia should receive regular monitoring and adequate treatment of cardio-metabolic risk factors.

  12. Radial tunnel syndrome. Findings and treatment in 17 patients

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    Gustavo Alberto Breglia

    2015-05-01

    Full Text Available Backround Radial tunnel syndrome is a condition secondary to the intermittent entrapment of the posterior interosseous nerve between superficial and deep mass of short supinator adjacent structures, such as vessels and fascias. The purpose of this study was to identify the anatomical structures that produce the eventual compression, to establish and communicate the differences in the subjective pain perception before and after the release of the posterior interosseous nerve in the radial tunnel. Method Between 2009 and 2014, 17 patients underwent surgical treatment by posterior interosseous nerve release. We used the approach between the first external radial and brachioradialis. Patients were assessed by visual analogue scale for pain intensity before surgery and at week 6, and according to the Roles and Maudsley functional criteria. Results The causes of posterior interosseous nerve compression were fibrous band of short supinator (arcade of Frohse (7 cases, recurrent vessels (4 cases, compression by the mass of the superficial portion of the short supinator muscle (2 cases and secondary compression by extensor carpi radialis brevis tendon (4 cases. Results were excellent (4 patients, good (10 patients and fair (3 patients. Patients treated through the Labor Risk Insurance had worse outcomes than those who were not covered by this system. Conclusions Radial tunnel syndrome is a condition that must be taken into account when there is refractory lateral epicondylalgia. This disease has a marked effect in patients with labor conflict, which may bias the outcome of treatment.

  13. Clinical profile of patients with fibromyalgia syndrome

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    Andrei Pereira Pernambuco

    Full Text Available Abstract Introduction: The new diagnostic criteria for fibromyalgia (FM include the presence of chronic, widespread pain associated with other symptoms such as fatigue, sleep disturbance, anxiety and depression. All these symptoms should be considered when thinking and clinical decision making of physiotherapists dealing with FM. However, it is clear that the other symptoms that accompany the pain are often neglected. Objective: To measure the levels of fatigue, sleep disturbances, anxiety and depression in patients with FM and compare them to levels found in healthy controls. Methods: Forty-six women diagnosed with FM and 30 healthy controls participated in the study. The levels of each of the symptoms were assessed by four validated questionnaires in Brazil (Piper Fatigue Scale - Revised, Pittsburgh Sleep Quality Index, Beck Anxiety Inventory and the Beck Depression Inventory. Statistical analysis was performed using GraphPad Prism software and all tests used a significance level of 5% (α = 0.05. Results: FM patients had significantly elevated levels of fatigue (p = 0.0005, sleep disturbances (p = 0.003, anxiety (p = 0.0012 and depression (p = 0.0003 compared to healthy controls. Symptoms fatigue and depression correlated strongly and positively with one another and with other symptoms evaluated. Conclusion: The other symptoms that comprise the clinical picture of FM need be considered not only in order to recover the health of patients, but above all in an attempt to preserve it and promote it.

  14. DEPRESSION AND ANXIETY IN PATIENT WITH ACUTE CORONARY SYNDROME

    OpenAIRE

    Kadek Dwi Krisnayanti

    2013-01-01

    Depression and anxiety are two conditions that common happened in patient with acute coronary syndrome which can cause negative cardiovascular outcomes. Although the prevalencies of these two conditions are slightly high, most of them had not been treated well. The mechanisms that underly the association between depression and anxiety with the negative cardiovascular outcome are possibly correlates with their effect on inflammatory process, cathecolamine release, heart rate variability, endo...

  15. Acute carpal tunnel syndrome in a patient with haemophilia

    OpenAIRE

    Mayne, Alistair Ivan William; Howard, Anthony; Kent, Matthew; Banks, Joanne

    2012-01-01

    Acute carpal tunnel syndrome (CTS) is a rare surgical condition usually resulting from wrist trauma. We present the case of a young haemophilic man who developed acute CTS following trivial injury. The patient was initially managed conservatively but symptom progression resulted in carpal tunnel decompression. A literature review and management approach are presented. This is an important complication of haemophilia to be aware of as prompt conservative management can obviate the need for sur...

  16. Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.

    Science.gov (United States)

    Moretti-Ferreira, D; Koiffmann, C P; Listik, M; Setian, N; Wajntal, A

    1993-06-15

    We describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of palpebral fissures, mental retardation, and delayed bone maturation. Both cases are of sporadic occurrence with no consanguinity between the parents. We suggest that this syndrome is due to a new autosomal dominant mutation and propose to designate it with the acronym of "MOMO syndrome" (Macrosomia, Obesity, Macrocrania, Ocular anomalities.

  17. Ultrasound evaluation of metabolic syndrome patients with hepatosteatosis

    Directory of Open Access Journals (Sweden)

    Mehmet Emin Demir

    2013-01-01

    Full Text Available Objective: The exact incidence of hepatosteatosis in patients with metabolic syndrome (MetS is unknown; also there is no valid, simple and inexpensive method to evaluate and follow-up for patients with MetS. In our study, we aimed to demonstrate the frequency of hepatosteatosis, and whether demonstrate presence and degree of steatosis using liver ultrasonography may provide additional benefit for evaluating and following-up in MetS patients with non-alcoholic fatty liver disease. Methods: One hundred and twelve patients with MetS were included to the study. Patients divided into three groups; control group (n= 36 consisted of patients without hepatosteatosis, group 1 (n=43 consisted of patients with grade 1 hepatosteatosis. Finally, group 2 (n= 33 consisted of patients with grade 2 hepatosteatosis. The relationship between the presence and degree of the hepatosteatosis and MetS parameters were analyzed.Results: The incidence of hepatosteatosis was found 69.4% in patients with MetS. There were significantly differences in HOMA-IR, AST, ALT and GGT levels among control group and group 1 (p0.05 for all. Besides, there were significantly differences in waist circumferences, fasting insulin, HOMA-IR, GGT, uric acid, CRP levels among group 1 and 2 (p<0.05 for all.Conclusion: Our study indicates that MetS related parameters; especially insulin resistance, were significantly different in patients with hepatosteatosis compared to patients without hepatosteatosis. Because of the different measurment of waist circumferences among groups, we recommend to use liver ultrasonography and waist circumference together to evaluate and follow-up for MetS patients with hepatosteatosis. J Clin Exp Invest 2013; 4 (2: 153-158Key words: Fatty Liver, metabolic syndrome X, ultrasonography

  18. Isometric and isokinetic muscle strength in patients with fibrositis syndrome. New characteristics for a difficult definable category of patients

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Danneskiold-Samsøe, B

    1987-01-01

    A common complaint among patients with fibrositis syndrome is exhaustion and fatique. It was therefore felt desirable to evaluate the muscle strength of these patients compared with normal subjects. Maximum isometric and isokinetic strength of knee extension was measured in 15 patients and 15...... in patients with fibrositis syndrome than in healthy subjects....

  19. Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia.

    Science.gov (United States)

    Digilio, M C; Marino, B; Ammirati, A; Borzaga, U; Giannotti, A; Dallapiccola, B

    1999-06-04

    Oral-facial-skeletal (OFS) syndromes include short rib-polydactyly (SRP) and oral-facial-digital (OFD) syndromes. Congenital heart defect (CHD), mainly atrioventricular canal defect (AVCD), is a cardinal finding in the Ellis-van Creveld (EVC) syndrome, but it occurs only occasionally in other SRP and OFD syndromes. The cardiac characteristics of all patients with OFS syndromes evaluated at our hospital from January 1986 to April 1997 were analyzed and compared with published reports. Ten patients with EVC syndrome, one with McKusick-Kaufman syndrome, and one with OFD syndrome type II had AVCD. Eight patients (67%) had a common atrium, eight (67%) a persistent left superior vena cava (LSVC) draining into the left atrium because of an unroofed coronary sinus in five (42%), and left-sided obstructive lesions in three (25%). One patient with EVC syndrome had AVCD, common atrium, double outlet right ventricle, persistent LSVC associated with "asplenia syndrome," visceral heterotaxia, and right isomerism. The combination of CHDs found in the personal series of OFS syndromes suggests pathogenetic similarity with heterotaxia syndromes. Published results also corroborate the association between OFS syndromes and CHDs usually occurring in heterotaxia. Molecular studies could shed light on the genetic mechanisms implicated in the cause of the OFS and heterotaxia syndromes.

  20. Avoiding Management Errors in Patients with Obesity Hypoventilation Syndrome.

    Science.gov (United States)

    Manthous, Constantine A; Mokhlesi, Babak

    2016-01-01

    The prevalence of obesity hypoventilation syndrome and obstructive sleep apnea are increasing rapidly in the United States in parallel with the obesity epidemic. As the pathogenesis of this chronic illness is better understood, effective evidence-based therapies are being deployed to reduce morbidity and mortality. Nevertheless, patients with obesity hypoventilation still fall prey to at least four avoidable types of therapeutic errors, especially at the time of hospitalization for respiratory or cardiovascular decompensation: (1) patients with obesity hypoventilation syndrome may develop acute hypercapnia in response to administration of excessive supplemental oxygen; (2) excessive diuresis for peripheral edema using a loop diuretic such as furosemide exacerbates metabolic alkalosis, thereby worsening daytime hypoventilation and hypoxemia; (3) excessive or premature pharmacological treatment of psychiatric illnesses can exacerbate sleep-disordered breathing and worsen hypercapnia, thereby exacerbating psychiatric symptoms; and (4) clinicians often erroneously diagnose obstructive lung disease in patients with obesity hypoventilation, thereby exposing them to unnecessary and potentially harmful medications, including β-agonists and corticosteroids. Just as literary descriptions of pickwickian syndrome have given way to greater understanding of the pathophysiology of obesity hypoventilation, clinicians might exercise caution to consider these potential pitfalls and thus avoid inflicting unintended and avoidable complications.

  1. 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.

  2. 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.

  3. Complex regional pain syndrome type 1: Analysis of 108 patients.

    Science.gov (United States)

    Pendón, Gisela; Salas, Adrian; García, Mercedes; Pereira, Dora

    Complex regional pain syndrome (CRPS) type 1 is characterized by the presence of pain, edema, functional impotence, impaired mobility, trophic changes, vasomotor instability and bone demineralization. We carried out a retrospective and prospective, descriptive, observational study of 108 patients over 18 years of age with suspected CRPS who met Doury's criteria. We recorded demographic data, clinical characteristics, comorbidities, previous predisposing conditions and triggering factors, such as injury or fracture. We evaluated laboratory data, serial plain X-rays, 3-phase bone scintigraphy with technetium 99 and bone density scan, as well as drug treatment, rehabilitation and disease course. In all, 89% of the 108 patients were women with an average age of 54.8±12.4 years. The time between the onset of the symptoms and the first visit to a physician was 3.1 months. The most common triggering factor was injury (91.7%). The most frequent psychological factor was anxiety (42.6%). All the patients reported pain and 99.07% had impaired mobility. The most frequently affected part of the body was the hand (75%; 81/108 patients) followed by the shoulder, in the shoulder-hand syndrome. All the patients had serial X-rays and changes were observed in 93.5%. Three-phase bone scintigraphy revealed evidence of disease in all 32 of the patients who underwent this study. Bone density scanning was performed in 54 patients (50%). All the patients were treated with nonsteroidal anti-inflammatory drugs, mainly diclofenac (60%). Calcium therapy was initiated in 106 patients (98.2%) and vitamin D3 therapy in 97.2%. All the patients received bisphosphonates, primarily alendronate and ibandronate (67.6% and 27.8%, respectively). Thirty-six patients (33.3%) received corticosteroids. All of the evaluated patients underwent rehabilitation involving occupational therapy. The average time to recovery was 6.31 months (range, 4-24). The outcome was favorable in 88.9% of the patients. This

  4. 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.

  5. The characteristics of the patients with Rett syndrome: Case series

    Directory of Open Access Journals (Sweden)

    Dutina Aleksandra

    2016-01-01

    Full Text Available Rett syndrome is a neurodevelopmental disorder caused by mutation in the gene MECP2 on the X chromosome. The main clinical characteristics are breathing disorders, epileptic seizures, scoliosis, walking disability and constipation with frequent growth failure and malnutrition. Our transversal study included 29 female patients with Rett syndrome treated in the Institute for Mother and Child Health Care ''Dr Vukan Čupić'' in Belgrade. The patients were anthropometrically measured by their height and weight and caluculating body mass index. The degree of scolisios, the frequency of epileptic seizures, walking ability and grade of respiratory dysfunction were assessed based on the clinical scales for disease severity estimation. The statistical data analysis was done in the software package PASW Statistics 18. The average age of the patients was 145.5±90.1 months. The average height was 125.2±22.1cm, the average weight 27.6±12.3kg, and the average body mass index was 16.6±3.5kg/m2. The average z scores for height, weight and BMI-for-age were statistically significantly lower in comparison to general population, which is given with negative z scores. There was the statistically significant negative coorelation between the age of patients and the average z scores for height-for-age (r=-0.464 p=0.011, weight-for-age (r=-0.433 p=0.019 and BMI-for-age (r=-0.433 p=0.019. The statistically significant negative coorelation was found between the degree of scoliosis and the average z scores for height and weight-for-age, but not with the average z score for BMI-for-age. The growth failure and malnutrition represent significant problems which are found in Rett syndrome. The detection of factors affecting the growth and nutrition in patients with Rett syndrome could greatly contribute to the improvement of the quality of life in the patients with Rett syndrome and perhaps lead to the correction of the approach of symptomatic and supportive therapy.

  6. Colorectal choriocarcinoma in a patient with probable Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Viktor Hendrik Koelzer

    2016-11-01

    Full Text Available Background: Personalized therapy of colorectal cancer (CRC is influenced by morphological, molecular and host-related factors. Here we report the comprehensive clinicopathological and molecular analysis of a pure extra-gestational colorectal choriocarcinoma in a patient with probable Lynch syndrome.Case presentation: A 61 year old female with history of gastric cancer at age 36 presented with a transmurally invasive tumor of the right hemicolon and liver metastasis. A right hemicolectomy was performed. Histopathological analysis showed a mixed trophoblastic and syncytiotrophoblastic differentiation, consistent with choriocarcinoma. Disease progression was rapid under oxaliplatin, capecitabine, irinotecan (XELOXIRI and bevacizumab. Molecular phenotyping identified loss of the mismatch-repair (MMR protein PMS2, microsatellite instability, a lack of MLH1 promoter methylation and lack of of BRAF mutation suggestive of Lynch-Syndrome. Targeted next generation sequencing revealed an Ataxia Telangiectasia Mutated (ATM p.P604S missense mutation. A bleomycin, etoposide and cisplatin (BEP treatment protocol targeting germ-cell neoplasia lead to disease remission and prolonged survival of 34 months.Conclusions: Comprehensive immunohistochemical and genetic testing is essential to identify uncommon cancers possibly related to Lynch syndrome. For rare tumors, personalized therapeutic approaches should take both molecular and morphological information into account.Key words: Colorectal cancer, choriocarcinoma, histopathology, prognostic factors, Lynch syndrome, microsatellite instability, ataxia telangiectasia mutated, molecular pathology, next generation sequencing, personalized medicine

  7. Assessment of Smell Function in Syndromic Craniosynostosis Patients.

    Science.gov (United States)

    Vaughan, Casey; Attlmayr, Bernhard; Dalton, Lucy; Upile, Navdeep; Xie, Carol; De, Su

    2016-09-01

    Craniosynostosis is defined as premature fusion of the cranial suture lines and is part of a syndrome in 15% to 40% of the patients. There is limited literature available regarding these children's ability to smell. Most of them will undergo numerous surgical procedures, some of which may alter their sense of smell, potentially leading to significant social as well as safety implications. Ethical approval was obtained for this pilot study. Children with syndromic craniosynostosis were recruited and underwent anterior rhinoscopy, prior to performing a smell test utilizing the Sensonic pediatric Smell wheel. The results were compared to an age-matched control group. Eight children with syndromic craniosynostosis participated in the study. Of a possible total score of 11, their mean average score was 6.6 and the median was 6. In comparison, the mean average score for the control group was 7.5 and the median was 7. Although the study group was small, this pilot study demonstrates that children with syndromic craniosynostosis have a similar ability to identify smells to an age-matched cohort. Further research can now be undertaken to see whether or not midface advancement procedures affect these children's sense of smell.

  8. [Attachment Representation and Emotion Regulation in Patients with Burnout Syndrome].

    Science.gov (United States)

    Söllner, Wolfgang; Behringer, Johanna; Böhme, Stephanie; Stein, Barbara; Reiner, Iris; Spangler, Gottfried

    2016-06-01

    Burnout describes a syndrome of exhaustion resulting from insufficient coping with work-related distress. We investigated if patients that are being clinically treated for burnout show insecure and unresolved attachment representation more often compared with healthy controls. 50 out of 60 consecutive burnout patients participated in the study. Mental representation of attachment was measured by using the Adult Attachment Interview. Additionally, we administered the Self Report Questionnaire to Assess Emotional Experience and Emotion Regulation and several burnout specific questionnaires. A population sample was used as control group. Burnout patients were classified as insecurely attached significantly more often than controls. Unresolved attachment status concerning loss or trauma was found significantly more often within the burnout sample. Patients with insecure attachment representation reported a lower subjective significance of work. Patients with avoidant insecure attachment showed more depersonalisation. Patients with unresolved loss/trauma reported less social support. They showed more passive-negative emotion experience and emotion regulation characterized by externalization. The results of the study suggest that an insecure or unresolved attachment representation might constitute an intrapersonal risk factor for the development of burnout syndrome. © Georg Thieme Verlag KG Stuttgart · New York.

  9. Hematological abnormalities in adult patients with Down's syndrome.

    LENUS (Irish Health Repository)

    McLean, S

    2012-02-01

    BACKGROUND: There is a paucity of data regarding hematological abnormalities in adults with Down\\'s syndrome (DS). AIMS: We aimed to characterize hematological abnormalities in adult patients with DS and determine their long-term significance. METHODS: We retrospectively studied a cohort of nine DS patients referred to the adult hematology service in our institution between May 2001 and April 2008. Data collected were: full blood count (FBC), comorbidities, investigations performed, duration of follow-up and outcome to most recent follow-up. RESULTS: Median follow-up was 26 months (9-71). Of the nine patients, two had myelodysplastic syndrome (MDS) at presentation. Of these, one progressed, with increasing marrow failure, and requiring support with transfusions and gCSF. The remaining eight patients, with a variety of hematological abnormalities including leukopenia, macrocytosis, and thrombocytopenia, had persistently abnormal FBCs. However there was no evidence of progression, and no patient has evolved to acute myeloid leukemia (AML). CONCLUSIONS: MDS is a complication of DS and may require supportive therapy. However, minor hematological abnormalities are common in adult DS patients, and may not signify underlying marrow disease.

  10. Colorectal Cancer Risk in Patients With Lynch Syndrome and Inflammatory Bowel Disease.

    Science.gov (United States)

    Derikx, Lauranne A A P; Smits, Lisa J T; van Vliet, Shannon; Dekker, Evelien; Aalfs, Cora M; van Kouwen, Mariëtte C A; Nagengast, Fokko M; Nagtegaal, Iris D; Hoogerbrugge, Nicoline; Hoentjen, Frank

    2017-03-01

    Lynch syndrome and inflammatory bowel diseases (IBD) are associated with an increased risk of colorectal cancer (CRC). However, it is not clear whether the risk of CRC is even higher for patients with a combination of Lynch syndrome and IBD. We investigated the risk for CRC in this subgroup by establishing a Lynch syndrome cohort from the Radboud University Medical Center (Nijmegen, The Netherlands) and the Academic Medical Center (Amsterdam, The Netherlands). Patients with heterozygous germline mutations in MLH1, MSH2 (and EPCAM deletion-mediated MSH2 methylation), MSH6, or PMS2 who were tested and/or treated from 1998 through 2014 were included. Patients who developed IBD were identified by linkage of this cohort to the Dutch nationwide Pathology Registry (PALGA). Subsequently, we compared the risk of CRC between Lynch syndrome patients with IBD and without IBD. Of 1046 patients with Lynch syndrome, 15 developed IBD (1.4%). Patients with Lynch syndrome and IBD were significantly younger (median age, 38.0 y) than patients with Lynch syndrome without IBD (median age, 52.0 y; P = .001). Nevertheless, a similar proportion of patients in each group developed CRC: 4 of the 15 patients (26.7%) with Lynch syndrome and IBD compared with 311 of the 1031 patients (30.2%) with Lynch syndrome without IBD. Patients with Lynch syndrome and IBD developed CRC at a younger age (median age, 36.0 y) than patients with Lynch syndrome without IBD (median age, 46.0 y; P = .045). However, the cumulative incidence of CRC was similar between groups (P = .121). All patients with Lynch syndrome and IBD who developed CRC had ulcerative colitis, producing a higher cumulative incidence of CRC for this IBD subgroup (P Lynch syndrome and IBD develop CRC risk at a younger age than patients without IBD; patients with ulcerative colitis are at especially high risk. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

  11. Understanding Gut Fermentation Syndrome in the Psychiatric Evaluation of Patients with Suspected Alcohol Use Disorder

    Science.gov (United States)

    2017-10-18

    Fermentation Syndrome in the Psychiatric Evaluation of Patients with Suspected Alcohol Use Disorder Sb. GRANT NUMBER Sc. PROGRAM ELEMENT NUMBER 6...by ANSI Std. Z39.18 Adobe Professional 7. 0 Introduction Gut Fermentation Syndrome, also known as auto- brewery syndrome, is a phenomenon not well...patient stated abstinence from alcohol use and that Gut Fermentation Syndrome was the cause of continually elevated blood alcohol levels. We will

  12. [Treatment of patients with postpolio syndrome in warm climate].

    Science.gov (United States)

    Strumse, Y A; Stanghelle, J K; Utne, L; Ahlvin, P; Svendsby, E K

    2001-06-30

    Treatment in a warm climate of various patient groups, including patients with postpolio syndrome, is controversial. 88 patients with postpolio syndrome (61 women) were recruited, stratified according to sex, age ( 60 years old) and use/non-use of electrical wheelchair, and randomized to three groups. Group 1 (n = 30) underwent treatment in a rehabilitation centre in Tenerife for four weeks in November/December 1999. Group 2 (n = 29) was treated in two similar centres in Norway for the same period of time, while Group 3 (n = 29), the control group, followed their ordinary health care programme. All patients were tested at the start of the study and three and six months later with physical tests and several questionnaire and qualitative interviews. Patients in groups 1 and 2 were also tested after the rehabilitation period. Groups 1 and 2 improved significantly both in physical tests and subjective ratings. The positive effects in group 1 tended to exceed the positive effects in group 2, and the effects lasted longer. Six minutes walking distance in the two groups was 347 metres and 316 metres, respectively before the treatment period, 429 metres and 362 metres immediately after, and 431 metres and 356 metres three months later. Subjective rating of pain (VAS scale) was 42 and 43 respectively before treatment, 17 and 31 immediately after, and 28 and 44 three months later. In the control group, only minor changes were found. The study seems to document a positive effect of treatment of patients with postpolio syndrome in a warm climate.

  13. Treatment of patients with postpolio syndrome in a warm climate.

    Science.gov (United States)

    Strumse, Y A S; Stanghelle, J K; Utne, L; Ahlvin, P; Svendsby, E K

    2003-01-21

    Treatment in warm climate of various patient groups including patients with postpolio syndrome is controversial. Eighty-eight patients with postpolio syndrome (61 women) were recruited, stratified according to sex, age (above/below 60 years old) and use/not use of electrical wheelchair, and randomized to three groups. Group 1 (n=30) underwent treatment in a rehabilitation centre in Tenerife for four weeks in November/December 1999. Group 2 (n=29) were treated in two similar centres in Norway for the same period of time, while Group 3 (n=29), the control group, followed their ordinary health care programme. All patients were tested at the start of study, and 3 and 6 months later, including physical tests and several questionnaire and qualitative interviews. Patients in Group 1 and 2 were also tested after the rehabilitation period. Group 1 and 2 improved significantly both in physical tests and subjective ratings. The positive effects in Group 1 tended to exceed the positive effects in Group 2, and the effects lasted longer. Six minutes walking distance in the two groups was 347 m and 316 m, respectively, before the treatment period, 429 m and 362 m immediately after, and 431 m and 356 m 3 months later. Subjective rating of pain (VAS-scale) was 42 and 43, respectively, before treatment, 17 and 31 immediately after, and 28 and 44 3-months later. In the control group, only minor changes were found. The study seems to document a positive effect of treatment of patients with postpolio syndrome in warm climate.

  14. Somatosensory evaluation in Dysfunctional Syndrome patients.

    Science.gov (United States)

    Hilgenberg-Sydney, P B; Kowacs, P A; Conti, P C R

    2016-02-01

    Many chronic pain patients are refractory to treatment, which leads to the suspicion that somehow they are not fully effective and probably some mechanism of pain generation and/or maintenance is still unknown. The aim of this cross-sectional study was to provide evidence-based data on pain mechanisms in different types of chronic pain conditions. Eighty women, with 18-65 years old, were included, divided into four groups: myofascial pain of the masticatory muscles (n = 20), fibromyalgia (n = 20), chronic daily headache and healthy volunteers (n = 20). All patients were submitted to quantitative sensory tests: pressure pain threshold, mechanical detection threshold, mechanical pain threshold, ischaemic pain tolerance, cold pain sensitivity, aftersensation, wind-up ratio and conditioned pain modulation. Current perception threshold was also determined (Neurometer CPT/C - Neurotron). Three different zones were evaluated: trigeminal (masseter muscle), cervical and extratrigeminal (thenar eminence). Data were recorded and subjected to statistical analysis (anova, Tukey and Student's t-tests). Masticatory myofascial pain, fibromyalgia and chronic daily headache individuals presented lower pressure pain thresholds than healthy volunteers (P = 0.00). Chronic daily headache individuals had a significantly higher mechanical detection threshold than healthy volunteers (P = 0.01). Individuals of the symptomatic groups showed lower values for mechanical pain threshold and for ischaemic pain tolerance (P = 0.00) than healthy volunteers. The ability to activate the mechanism of endogenous modulation is impaired in women with fibromyalgia and myofascial pain (P = 0.00). These results reinforce evidence of central sensitisation and impaired endogenous modulation system in individuals with myofascial pain, fibromyalgia and chronic daily headache. © 2015 John Wiley & Sons Ltd.

  15. Toxoplasma gondii Antigenuria in Patients with Acquired Immune Deficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Alberto Fachado

    1997-09-01

    Full Text Available A longitudinal study was performed with sera and urine of patients with acquired immune deficiency syndrome (AIDS, taken before, during and after clinically Toxoplasma infection. The tested patients were followed for an average of two years. The titres of the specific IgG and IgM antibodies were measured by an indirect fluorescent antibody test (IFAT, and the appearance of circulating antigens of T. gondii was determined in 36 urine samples of 13 patients with neurotoxoplasmosis by means of the coagglutination test. The presence of T. gondii antigens in the urine of AIDS patients by this test was correlated with the immunoblot technique, with clinical symptoms and also with pathological findings. Our results indicate that the detection of T. gondii antigens in the urine of AIDS patients can be regarded as a rapid and efficient method for the diagnosis of acute toxoplasmosis

  16. Heart rate recovery in patients with obstructive sleep apnea syndrome

    OpenAIRE

    Karaşen, Rıza Murat; ÇİFTÇİ, Bülent; Acar, Baran; YALÇIN, Ahmet Arif; GÜVEN, Selma FIRAT

    2014-01-01

    To demonstrate the effects of obstructive sleep apnea syndrome (OSAS) on baroregulatory function by using heart rate recovery (HRR) parameters. Materials and methods: Fifty-four moderate and severe OSAS patients were included in the study. HRR was defined as the difference in heart rate between peak exercise and 1 min later; a value of 18 beats/min was considered abnormal. OSAS patients were enrolled in the study as group 1 (normal HRR; n = 12) and group 2 (abnormal HRR, n = 42). Left ventr...

  17. Treatment of Dientamoeba fragilis in patients with irritable bowel syndrome

    DEFF Research Database (Denmark)

    Engsbro, Anne Line; Stensvold, C Rune; Nielsen, Henrik V

    2012-01-01

    The role of Dientamoeba fragilis in irritable bowel syndrome (IBS) is incompletely known. We aimed to investigate whether eradication of D. fragilis alleviates symptoms in IBS. Twenty-five D. fragilis-positive IBS patients were treated with Metronidazole (MZ) or Tetracycline. The patients were...... regression analysis, we found no significant association between clinical and microbiological response. This case study did not support our hypothesis of a simple association between D. fragilis and IBS. Some D. fragilis-infections were insufficiently treated by MZ. Further studies into the prevalence...... and effect of eradication of D. fragilis in IBS and into efficient treatments of D. fragilis are warranted....

  18. Acute carpal tunnel syndrome in a patient with haemophilia

    Science.gov (United States)

    Mayne, Alistair Ivan William; Howard, Anthony; Kent, Matthew; Banks, Joanne

    2012-01-01

    Acute carpal tunnel syndrome (CTS) is a rare surgical condition usually resulting from wrist trauma. We present the case of a young haemophilic man who developed acute CTS following trivial injury. The patient was initially managed conservatively but symptom progression resulted in carpal tunnel decompression. A literature review and management approach are presented. This is an important complication of haemophilia to be aware of as prompt conservative management can obviate the need for surgery. This case is useful in (a) highlighting the importance of considering a patient's medical history when formulating differential diagnoses and (b) outlining a management approach to this condition. PMID:22761230

  19. Waardenburg syndrome type 2 in an african patient

    Directory of Open Access Journals (Sweden)

    H. Otman S

    2005-01-01

    Full Text Available A thirty six year-old African man, born in the Southern part of Libya, presented with congenital deafness and white forelock, variable-sized hypopigmented, depigmented patches and hyperpigmented islands within the areas of hypomelanosis affecting the upper parts of the trunk, both arms and forearms. The nasal root was hypertrophied, but there was a lack of lateral displacement of medial canthi. We report this case of Waardenburg syndrome type 2 (WS 2. As no treatment is available for patients with WS 2, prompt diagnosis and referral to a hearing specialist are crucial for the normal development of patients affected with this condition.

  20. Hyperimmunoglobulin E syndrome (job syndrome) discovered in a patient following corrective spine surgery: case report and review of the literature.

    Science.gov (United States)

    Tan, Wu Meng; Kandiah, David Arumaisingam; Tan, Seang Beng

    2006-06-15

    A case report of the hyperimmunoglobulin E syndrome (Job syndrome) presenting in the context of late postoperative infection after corrective surgery for scoliosis. To describe the clinical presentation and treatment of a patient with Job syndrome, and its implications for spine surgeons. Job syndrome classically presents with a triad of increased serum immunoglobulin E, multiple abscesses, and pneumonia with pneumatocele formation. In recent years nonimmunologic manifestations have been described, including scoliosis, joint hypermobility, eosinophilia, and atopy. A 15-year-old female presented with local swelling and fever 2 years after anterior lumbar discectomy and fusion with spinal instrumentation involving T11-L3 levels. Computerized tomography revealed paravertebral, psoas, and pulmonary abscesses. The implants were removed and antibiotic therapy instituted. Further investigation revealed features of the hyperimmunoglobulin E syndrome (Job syndrome). The patient's symptoms resolved, as did markers of inflammation. Job syndrome is a primary immunodeficiency often associated with scoliosis. Given the implications for surgical outcome in immunodeficient patients, the diagnosis should be considered and, blood tests instituted in patients with scoliosis with any of the associated history and physical findings of Job syndrome.

  1. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome.

    NARCIS (Netherlands)

    Worm, S.W.; Friis-Moller, N.; Bruyand, M.; d'Arminio Monforte, A.; Rickenbach, M.; Reiss, P.; El-Sadr, W.; Phillips, A.; Lundgren, J.; Sabin, C.; Gyssens, I.C.J.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  2. High prevalence of the metabolic syndrome in HIV-infected patients : impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; Schölvinck, Elisabeth H.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  3. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome

    DEFF Research Database (Denmark)

    Worm, Signe H.Westring; Friis-Møller, Nina; Bruyand, Mathias

    2010-01-01

    This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time....

  4. Frailty and Geriatric Syndromes in Vascular Surgical Ward Patients.

    Science.gov (United States)

    McRae, Prudence J; Walker, Philip J; Peel, Nancye M; Hobson, Denise; Parsonson, Fiona; Donovan, Peter; Reade, Michael C; Marquart, Louise; Mudge, Alison M

    2016-08-01

    Preoperative frailty is an important predictor of poor outcomes but the relationship between frailty and geriatric syndromes is less clear. The aims of this study were to describe the prevalence of frailty and incidence of geriatric syndromes in a cohort of older vascular surgical ward patients, and investigate the association of frailty and other key risk factors with the occurrence of one or more geriatric syndromes (delirium, functional decline, falls, and/or pressure ulcers) and two hospital outcomes (acute length of stay and discharge destination). This prospective cohort study was conducted in a vascular surgical ward in a tertiary teaching hospital in Brisbane, Australia. Consecutive patients aged ≥65 years, admitted for ≥72 hr, were eligible for inclusion. Frailty was defined as one or more of functional dependency, cognitive impairment, or nutritional impairment at admission. Delirium was identified using the Confusion Assessment Method and a validated chart extraction tool. Functional decline from admission to discharge was identified from daily nursing documentation of activities of daily living. Falls were identified according to documentation in the medical record cross-checked with the incident reporting system. Pressure ulcers, acute length of stay, and discharge destination were identified by documentation in the medical record. Risk factors associated with geriatric syndromes, acute length of stay, and discharge destination were assessed using multivariable logistic regression models. Of 110 participants, 43 (39%) patients were frail and geriatric syndromes occurred in 40 (36%). Functional decline occurred in 25% of participants, followed by delirium (20%), pressure ulcers (12%), and falls (4%). In multivariable logistic analysis, frailty [odds ratio (OR) 6.7, 95% confidence interval (CI) 2.0-22.1, P = 0.002], nonelective admission (OR 7.2, 95% CI 2.2-25.3, P = 0.002), higher physiological severity (OR 5.5, 95% CI 1.1-26.8, P = 0

  5. 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.

  6. Evaluation of the temporal bone malformations by HRCT in 17 patients with Treacher Collins Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Chihara, Yasuhiro [Kanto Medical Center NTT EC, Tokyo (Japan); Takegoshi, Hideki [Saitama Medical School, Moroyama (Japan); Kaga, Kimitaka [Tokyo Univ. (Japan). Faculty of Medicine

    2003-05-01

    Patients with Treacher Collins Syndrome have severe middle ear malformations. We have studied high-resolution computed tomography (HRCT) of seventeen patients with Treacher Collins Syndrome by using Jahrsdoerfer's grading system. Four patients underwent canalplasty. The appearance of the auricle (which we evaluated by using Marx's grading system) was correlated with the development of the middle ear in patients with Treacher Collins Syndrome. The four cases who underwent canalplasty were using a canal type hearing aid. (author)

  7. [Transtibial amputation: sagittal flaps in patients with diabetic foot syndrome].

    Science.gov (United States)

    Jalůvka, F; Ostruszka, P; Sitek, P; Foltys, A; Vávra, P; Jelínek, P; Zonča, P

    2014-03-01

    Diabetic foot syndrome is defined by ulcer or destruction of leg tissues in patients with diabetes (diabetics) associated with infection, neuropathy and various degree of ischaemia (peripheral vascular disease). In Czech Republic in 2010 were registrated over 45 000 patients with diabetic foot syndrome. 8500 (diabetics) patients with diabetes undergone the surgery (any type of amputation). In retrospective non randomized trial we evaluated the population of patients with lower limb amputation admitted to Clinic of Surgery FNO between 2010-1012. We introduce current (present) view to possibilities of lower limb amputations, historical problems and development of surgical methods. Special aspect is dedicated to sagital shank amputation. Detail description of operative (surgical) technique itself and crural region (area) anatomy. In 2010-2012 we achieved 146 lower limb amputations in shank, from that 27 sagital shank amputations( sagital operative method). We observed ( followed up) the number of reoperations, reasons that led to amputation, wounds healing by secondary intention, itęs sources and necessity of revision due to postoperative hemorrhage. Effects of amputations on patientęs quality of life. Social and socioeconomical impacts. Provably lower number of complications in sagital shank amputations compared to (in comparison with) conventional methods. Authors would like to point out and introduce interesting operation method to the general public.

  8. Operative Findings in Reoperation of Patients with Cubital Tunnel Syndrome

    Science.gov (United States)

    Novak, Christine B.

    2007-01-01

    The purpose of this study was to report the operative findings in patients who underwent a secondary operation for cubital tunnel syndrome. A chart review was performed of 100 patients who had undergone a secondary operation for cubital tunnel syndrome by one surgeon. The mean age was 48 years (standard deviation 13.5 years). The most common complaint after primary surgery was increased symptoms in the ulnar nerve distribution (n = 55) and pain in the medial antebrachial cutaneous nerve distribution (n = 55). The most common operative findings included a medial antebrachial cutaneous nerve neuroma (n = 73) and a distal kink of the ulnar nerve (n = 57). This kink was noted as the nerve moved from its transposed position anterior to the medical epicondyle to its native position within the flexor carpi ulnaris. This study suggests that during primary surgery for cubital tunnel syndrome care should be given to avoid injury to the medial antebrachial cutaneous nerve, distal kinking of the ulnar nerve with transposition and pressure on the transposed nerve by the fascial flaps or tendinous bands. PMID:18780075

  9. Progressive myoclonus epilepsy in Down syndrome patients with dementia.

    Science.gov (United States)

    d'Orsi, Giuseppe; Specchio, Luigi M

    2014-08-01

    This study aimed to elucidate the natural history of senile myoclonic epilepsy, a type of myoclonic epilepsy associated with Alzheimer's disease in adult Down syndrome patients. Twelve Down syndrome patients over the age of 40 years with myoclonic epilepsy and Alzheimer's disease underwent clinical, neuropsychological, neurophysiological, and neuroradiological study. The kariotypes, APOE polymorphisms, all exons in the PSEN1 and PSEN2 genes, and exons 16 and 17 in the APP gene were determined for all patients. CSF Aβ42, p-tau181, and t-tauAg were determined for two patients. Three main stages appeared during the course of the syndrome. The first stage was characterized by dementia onset (mean age: 51 ± 6.6 years), diffuse EEG abnormalities during sleep, and cerebral atrophy determined using neuroimaging. During the second stage, myoclonic epilepsy manifested (mean age: 51.4 ± 7.2 years) with myoclonic jerks time-locked to diffuse epileptiform abnormalities upon awakening, which was controlled with antiepileptic drugs. During the third stage (mean age: 54.8 ± 7.6 years), myoclonic seizures were replaced with nonepileptic myoclonus, and cerebellar signs, severe dementia, and photosensitivity developed. All patients showed complete trisomy 21. Mutations were ruled out on the APP, PSEN1, and PSEN2 genes, and APOE analysis revealed ε3/ε3 homozygosity. CSF biomarkers showed a decrease in Aβ42 and an increase in p-tau181. The natural history of senile myoclonic epilepsy is consistent with progressive myoclonus epilepsy. Chromosome 21 is implicated in its pathophysiology; however, other genetic and/or environmental risk factors cannot be excluded. The absence of the APOE type 4 allele could predict its progression.

  10. Clinical characteristics of a novel subgroup of chronic fatigue syndrome patients with postural orthostatic tachycardia syndrome.

    Science.gov (United States)

    Lewis, I; Pairman, J; Spickett, G; Newton, J L

    2013-05-01

    A significant proportion of patients with chronic fatigue syndrome (CFS) also have postural orthostatic tachycardia syndrome (POTS). We aimed to characterize these patients and differentiate them from CFS patients without POTS in terms of clinical and autonomic features. A total of 179 patients with CFS (1994 Centers for Disease Control and Prevention criteria) attending one of the largest Department of Health-funded CFS clinical services were included in this study. Outcome measures were as follows: (i) symptom assessment tools including the fatigue impact scale, Chalder fatigue scale, Epworth sleepiness scale (ESS), orthostatic grading scale (OGS) and hospital anxiety and depression scale (HADS-A and -D, respectively), (ii) autonomic function analysis including heart rate variability and (iii) haemodynamic responses including left ventricular ejection time and systolic blood pressure drop upon standing. CFS patients with POTS (13%, n = 24) were younger (29 ± 12 vs. 42 ± 13 years, P fatigued (Chalder fatigue scale, 8 ± 4 vs. 10 ± 2, P = 0.002), less depressed (HADS-D, 6 ± 4 vs. 9 ± 4, P = 0.01) and had reduced daytime hypersomnolence (ESS, 7 ± 6 vs. 10 ± 5, P = 0.02), compared with patients without POTS. In addition, they exhibited greater orthostatic intolerance (OGS, 11 ± 5; P < 0.0001) and autonomic dysfunction. A combined clinical assessment tool of ESS ≤9 and OGS ≥9 identifies accurately CFS patients with POTS with 100% positive and negative predictive values. The presence of POTS marks a distinct clinical group of CFS patents, with phenotypic features differentiating them from those without POTS. A combination of validated clinical assessment tools can determine which CFS patients have POTS with a high degree of accuracy, and thus potentially identify those who require further investigation and consideration for therapy to control heart rate. © 2013 The Association for the Publication of the Journal of Internal Medicine.

  11. Moebius syndrome: clinical manifestations in a pediatric patient.

    Science.gov (United States)

    Lima, Luciana Monti; Diniz, Michele Baffi; dos Santos-Pinto, Lourdes

    2009-01-01

    Moebius syndrome is a congenital, nonprogressive disorder clinically characterized by loss of facial expression, impaired stomatognathic system functions, incapacity to close the eyelids, and several oral impairments. The purpose of this paper was to present the clinical manifestations and the dental treatment in a 5-year, 2-month-old male Moebius syndrome patient. The child presented with facial asymmetry, difficulty performing facial mimic movements and pronouncing some letters, and compromised suction, mastication, breathing, and deglutition. An intraoral examination revealed hypofunction of the perioral muscles, cheeks and tongue, ankyloglossia, anterior open bite, and absence of carious lesions and dental anomalies. The dental treatment consisted of frenectomy and further placement of a removable orthodontic appliance with a palatal crib for correction of the anterior open bite. After 12 months of follow-up, anterior open bite decreased and speech, deglutition, and mastication improved.

  12. Irritable bowel syndrome: patients' attitudes, concerns and level of knowledge.

    Science.gov (United States)

    Lacy, B E; Weiser, K; Noddin, L; Robertson, D J; Crowell, M D; Parratt-Engstrom, C; Grau, M V

    2007-06-01

    Irritable bowel syndrome (IBS) is a common, chronic disorder that reduces patients' quality-of-life. Although highly prevalent, little is known about patients' understanding of this disorder. To evaluate the knowledge, fears and concerns of IBS patients. Seven hundred thirty-six IBS patients (Rome II criteria) were eligible for inclusion in this prospective study. Each patient received a validated questionnaire to evaluate knowledge, attitudes and fears regarding IBS. A total of 261 of 664 potential respondents completed the questionnaire (39.3%). 83% of respondents were women, with a mean age of 53.7 years, and mean duration of symptoms of 14.2 years. Patients frequently believed that IBS develops because of anxiety (80.5%), dietary factors (75.1%) and depression (63.2%). Few respondents (28.7%) recognized that abdominal pain is the cardinal symptom of IBS, and 40.6% stated that colonoscopy can diagnose IBS. One in seven patients stated that IBS turns into cancer, and 29.9% noted that IBS increases the risk of inflammatory bowel disease. Many IBS patients have significant misconceptions regarding the nature of their disease and its prognosis. An overwhelming majority of IBS patients believe that anxiety, dietary factors and depression cause IBS. These findings are discordant with physicians' views and practices and highlight the need for patient-oriented educational programs.

  13. [Classification and clinical analysis of 165 patients with antiphospholipid syndrome.].

    Science.gov (United States)

    Xu, Na; Zhang, Yao; Zhang, Wen; Zhao, Yan; Zeng, Xiao-Feng

    2009-11-01

    Based on 2006 revised classification criteria of definite antiphospholipid syndrome (APS) and definition of new APS subsets, we investigated clinical features of APS patients, correlation between thrombotic events and related antibodies was assessed as well. 165 patients with APS were enrolled and analysed retrospectively. 124 female and 41 male patients were included. 116 cases (70.3%), 34 cases (20.6%), 10 cases (6.1%), and 5 cases (3.0%) were classified as definite APS, probable APS, seronegative APS, and microangiopathic APS (MAPS) respectively. Among 124 patients accompanied with other diseases, 113 (91.1%) were autoimmune diseases, mostly systemic lupus erythematosus (79.6%). 121 (73.3%) patients had episodes of thrombosis, with majority of deep vein thrombosis. The patients with positive test of lupus anticoagulant (LA) only were more likely to have episodes of thrombosis than with positive anticardiolipid antibody (ACL) only (86.0% versus 55.7%; P < 0.05). Among 61 patients with prolonged APTT, the presence of LA was detected in 50 (82.0%) patients, and ACL in 34 (55.7%) patients. APS patients could be classified into several subgroups according to their clinical features. Venous thromboses are more common than arterial thromboses, and positive of LA correlates thrombosis more than ACL.

  14. Dapsone hypersensitivity syndrome among leprosy patients in China.

    Science.gov (United States)

    Tian, Weiwei; Shen, Jianping; Zhou, Min; Yan, Liangbin; Zhang, Guocheng

    2012-12-01

    To Study the incidence and clinical characteristics of dapsone hypersensitivity syndrome (DHS) among MDT-treated leprosy patients from 2006 to 2009 in China. A retrospective survey was carried out throughout China using a specially designed questionnaire. From 2006 to 2009, there were 63 new patients reported to have DHS with an incidence of 1.0%. Among these patients, 13 were complete types of DHS, the others were incomplete ones. The average age of patients with DHS was 38 years and the male to female ratio was 2.15. The average incubation period from taking dapsone to DHS onset was 32.8 days (2-6 weeks). There were 60 (95.2%) patients who presented with various skin lesions, 56 (88.9%) with fever, 40 (63.5%) with hepatic damage and 22 (34.9%) with lymphopathy. Seven patients died with a death rate of 11.1% among all patients with DHS. DHS is a serious adverse event resulted from dapsone. It can occur in a small number of new leprosy patients treated with dapsone containing regimen. Some patients may die of DHS if not taking timely and adequate management. Therefore local doctors should pay an attention to DHS among leprosy patients newly treated with the dapsone-containing MDT regimen.

  15. Cardiovascular Risk Stratification in Patients with Metabolic Syndrome Without Diabetes or Cardiovascular Disease: Usefulness of Metabolic Syndrome Severity Score.

    Science.gov (United States)

    Masson, Walter; Epstein, Teo; Huerín, Melina; Lobo, Lorenzo Martín; Molinero, Graciela; Angel, Adriana; Masson, Gerardo; Millán, Diana; De Francesca, Salvador; Vitagliano, Laura; Cafferata, Alberto; Losada, Pablo

    2017-09-01

    The estimated cardiovascular risk determined by the different risk scores, could be heterogeneous in patients with metabolic syndrome without diabetes or vascular disease. This risk stratification could be improved by detecting subclinical carotid atheromatosis. To estimate the cardiovascular risk measured by different scores in patients with metabolic syndrome and analyze its association with the presence of carotid plaque. Non-diabetic patients with metabolic syndrome (Adult Treatment Panel III definition) without cardiovascular disease were enrolled. The Framingham score, the Reynolds score, the new score proposed by the 2013 ACC/AHA Guidelines and the Metabolic Syndrome Severity Calculator were calculated. Prevalence of carotid plaque was determined by ultrasound examination. A Receiver Operating Characteristic analysis was performed. A total of 238 patients were enrolled. Most patients were stratified as "low risk" by Framingham score (64%) and Reynolds score (70.1%). Using the 2013 ACC/AHA score, 45.3% of the population had a risk ≥7.5%. A significant correlation was found between classic scores but the agreement (concordance) was moderate. The correlation between classical scores and the Metabolic Syndrome Severity Calculator was poor. Overall, the prevalence of carotid plaque was 28.2%. The continuous metabolic syndrome score used in our study showed a good predictive power to detect carotid plaque (area under the curve 0.752). In this population, the calculated cardiovascular risk was heterogenic. The prevalence of carotid plaque was high. The Metabolic Syndrome Severity Calculator showed a good predictive power to detect carotid plaque.

  16. Patellofemoral morphometry in patients with idiopathic patellofemoral pain syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mar Carrion Martin, Maria del [Department of Rehabilitation, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Ruiz Santiago, Fernando, E-mail: ferruizsan@terra.e [Department of Radiology, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Pozuelo Calvo, Rocio [Department of Rehabilitation, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Guzman Alvarez, Luis [Department of Radiology, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain)

    2010-07-15

    Purpose: To compare clinical and computed tomography (CT) measures in extension, 20{sup o} and 30{sup o} of flexion of symptomatic knees of patient with idiopathic patellofemoral pain syndrome with the contra lateral asymptomatic knee. Materials and methods: Knees of 52 consecutive patients with idiopathic patellofemoral pain were studied with CT. In 28 patients this condition was unilateral and asymptomatic knee was used as control; 76 knees were symptomatic. Results: In patients with idiopathic patellofemoral pain we found a greater Q angle and internal condylar facet width in symptomatic knees with regard to asymptomatic knees. Conclusion: Greater Q angle and medial condylar facet can lead to overpressure on the medial knee compartment during maneuvers that increase contact between patella and medial condylar facet, such as knee flexion and squatting, contributing to development of idiopathic patellofemoral pain.

  17. [Coronary angiographic characteristics in septuagenarian patients with acute coronary syndrome].

    Science.gov (United States)

    Ben Ahmed, Habib; Bouzouita, Khaled; Hamdi, Imen; Ben Hassan, Fadoua; Mokaddem, Aida; Ben Ameur, Youssef; Boujnah, Mohamed R

    2013-05-01

    Although the prognosis of acute coronary syndrome (ACS) in elderly patients is bleak , elderly population is less well treated both in medical and interventional terms. aims: to analyse angiographic findings in septuagenarian patients admitted with ACS and its impact on the therapeutic strategy. We retrospectively analysed 250 patients 70 years or older hospitalised for ACS who underwent a coronary angiography between january 2006 to September 2010. This population was more likely to be male with mean age 74 years and 93 % of ACS were inaugural events (60% N STEM, 40% STEMI).Coronary angiograms showed complex, diffuse coronary lesions with a high incidence of multivessel coronary artery disease , bifurcation lesions , and calcified stenosis. Angiographic findings after ACS in elderly were characterised by multivessel disease and complex lesions .Surgical or percutaneous coronary revascularizaion was possible in the majority of these patients.

  18. Voriconazole-induced periostitis in a patient with overlap syndromes.

    Science.gov (United States)

    Hirota, Keisho; Yasoda, Akihiro; Fujii, Toshihito; Inagaki, Nobuya

    2014-03-05

    A 52-year-old woman with overlap syndrome and interstitial pneumonia underwent immunosuppressive therapy and she was suspected to suffer from pulmonary aspergillosis. Oral voriconazole was initiated, and a rapid elevation of alkaline phosphatase (ALP) occurred after 4 weeks. After 2 months, the patient presented diffuse pain in bilateral skeletal regions, and bone scintigraphy revealed bilateral multiple areas of increased radiotracer uptake. We suspected the skeletal involvement as voriconazole-induced periostitis. Actually, the plasma fluoride level was increased. Voriconazole was replaced with itraconazole, and after 3 weeks, the patient stopped complaining of bone pain concomitant with the decrease in ALP. Voriconazole-induced periostitis is a rare condition but had previously been reported in solid organ or patients with bone marrow transplant who received a long-term voriconazole therapy. Our present case is distinctive of previous ones, because it occurred in a patient with connective tissue disease which had its rapid progression.

  19. The Use of Physiotherapy among Patients with Subacromial Impingement Syndrome

    DEFF Research Database (Denmark)

    Christiansen, David Høyrup; Frost, Poul; Frich, Lars Henrik

    2016-01-01

    BACKGROUND: Physiotherapy with exercises is generally recommended in the treatment of patients with subacromial impingement syndrome (SIS). OBJECTIVE: We aimed to investigate the use of physiotherapy in patients with SIS in Danish hospital settings as part of initial non-surgical treatment...... and after SIS-related surgery and to evaluate to which extent sex, socio-demographic and clinical factors predict the use of physiotherapy. METHODS: Using national health registers, we identified 57,311 patients who had a first hospital contact with a diagnosis of ICD-10, groups M75.1-75.9, 1 July 2007...... to 30 June 2011. Records of physiotherapy were extracted within 52 weeks after first contact (or until surgery), and for surgically treated patients within 26 weeks after surgery. Predictors of the use of physiotherapy after first contact and after surgery were analysed as time-to-event. RESULTS: Within...

  20. Dyspnoea management in acute coronary syndrome patients treated with ticagrelor

    Science.gov (United States)

    Parodi, Guido; Storey, Robert F

    2015-01-01

    The occurrence of dyspnoea in acute coronary syndrome (ACS) patients has always been considered a challenging diagnostic and therapeutic clinical scenario. P2Y12 platelet receptor inhibitors (i.e., clopidogrel, prasugrel and ticagrelor) are currently the cornerstone of treatment of ACS patients. Thus, in the last few years, the potential association between ACS and dyspnoea has also become more challenging with the increasing use of ticagrelor in these patients due to its beneficial effects on ischaemic event prevention and mortality, since ticagrelor can induce dyspnoea as a side effect. The present article is intended to review the current literature regarding dyspnoea occurrence in ACS patients, especially those treated with ticagrelor, and to propose ticagrelor-associated dyspnoea management recommendations based on current knowledge. PMID:25267878

  1. Treatment of Dientamoeba fragilis in patients with irritable bowel syndrome.

    Science.gov (United States)

    Engsbro, Anne Line; Stensvold, C Rune; Nielsen, Henrik V; Bytzer, Peter

    2012-12-01

    The role of Dientamoeba fragilis in irritable bowel syndrome (IBS) is incompletely known. We aimed to investigate whether eradication of D. fragilis alleviates symptoms in IBS. Twenty-five D. fragilis-positive IBS patients were treated with Metronidazole (MZ) or Tetracycline. The patients were mostly female (89%), and mean age (SD) was 35.1 (8.2) years. Microbiological response, evaluated 2 weeks post-treatment, was observed in 15 of 25 patients (60%), all by MZ. Clinical response, defined as adequate relief of symptoms, was observed in 7 of 22 patients (32%), all by MZ. In a logistic regression analysis, we found no significant association between clinical and microbiological response. This case study did not support our hypothesis of a simple association between D. fragilis and IBS. Some D. fragilis-infections were insufficiently treated by MZ. Further studies into the prevalence and effect of eradication of D. fragilis in IBS and into efficient treatments of D. fragilis are warranted.

  2. Dyspnoea management in acute coronary syndrome patients treated with ticagrelor.

    Science.gov (United States)

    Parodi, Guido; Storey, Robert F

    2015-12-01

    The occurrence of dyspnoea in acute coronary syndrome (ACS) patients has always been considered a challenging diagnostic and therapeutic clinical scenario. P2Y12 platelet receptor inhibitors (i.e., clopidogrel, prasugrel and ticagrelor) are currently the cornerstone of treatment of ACS patients. Thus, in the last few years, the potential association between ACS and dyspnoea has also become more challenging with the increasing use of ticagrelor in these patients due to its beneficial effects on ischaemic event prevention and mortality, since ticagrelor can induce dyspnoea as a side effect. The present article is intended to review the current literature regarding dyspnoea occurrence in ACS patients, especially those treated with ticagrelor, and to propose ticagrelor-associated dyspnoea management recommendations based on current knowledge. © The European Society of Cardiology 2014.

  3. The Impact of Hypertension on Patients with Acute Coronary Syndromes

    Directory of Open Access Journals (Sweden)

    Claudio Picariello

    2011-01-01

    Full Text Available Arterial chronic hypertension (HTN is a well-known cardiovascular risk factor for development of atherosclerosis. In order to explain the relation between HTN and acute coronary syndromes the following factors should be considered: (1 risk factors are shared by the diseases, such as genetic risk, insulin resistance, sympathetic hyperactivity, and vasoactive substances (i.e., angiotensin II; (2 hypertension is associated with the development of atherosclerosis (which in turn contributes to progression of myocardial infarction. From all the registries and the data available up to now, hypertensive patients with ACS are more likely to be older, female, of nonwhite ethnicity, and having a higher prevalence of comorbidities. Data on the prognostic role of a preexisting hypertensive state in ACS patients are so far contrasting. The aim of the present paper is to focus on hypertensive patients with ACS, in order to better elucidate whether these patients are at higher risk and deserve a tailored approach for management and followup.

  4. Five personality dimensions in patients with irritable bowel syndrome

    Directory of Open Access Journals (Sweden)

    Alireza Farnam

    2008-08-01

    Full Text Available Alireza Farnam, Mohammad H Somi, Firouz Sarami, Sara FarhangLiver and Gastrointestinal Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, IranAim: Irritable bowel syndrome (IBS as a functional disorder of the gastrointestinal tract has been related to psychological factors. Aim of this study is to study the differences of personality factors between IBS patients compared to our general population.Methods: This study was performed in clinics of Tabriz Medical University during 2006–2007. IBS was diagnosed using the Rome II diagnostic criteria after exclusion of organic bowel pathology. The entry of each patient was confirmed following a psychiatric interview and after any comorbid psychiatry disorder was ruled out. Personality traits and score of each factor was evaluated using NEO five factor personality inventory compared to results of a previous study on general population of Iran.Results: One hundred and sixty six patients were studied. The mean age (±SD of them was 33.6(±11.4 years (60.8% female. Our study population had their symptoms for a mean interval of 47.3 month. The bowel problems were provoked by distress in more than 80% of patients. Pain in female patients was reported to be more frequent but both gender described the association between stressors and their symptoms. NEO Five-Factor Inventory showed a significantly higher level of neuroticism and conscientiousness and lower level of openness and agreeableness in theses nonpsychiatric IBS patients. Women with IBS had significantly higher levels of openness, conscientiousness, and extraversion compared to men.Conclusion: Differences were observed between IBS patients and general population. Patients with IBS may benefit from psychological interventions.Keywords: irritable bowel syndrome, personality, five-factor model

  5. Outcomes of Late Implantation in Usher Syndrome Patients.

    Science.gov (United States)

    Hoshino, Ana Cristina H; Echegoyen, Agustina; Goffi-Gomez, Maria Valéria Schmidt; Tsuji, Robinson Koji; Bento, Ricardo Ferreira

    2017-04-01

    Introduction Usher syndrome (US) is an autosomal recessive disorder characterized by hearing loss and progressive visual impairment. Some deaf Usher syndrome patients learn to communicate using sign language. During adolescence, as they start losing vision, they are usually referred to cochlear implantation as a salvage for their new condition. Is a late implantation beneficial to these children? Objective The objective of this study is to describe the outcomes of US patients who received cochlear implants at a later age. Methods This is a retrospective study of ten patients diagnosed with US1. We collected pure-tone thresholds and speech perception tests from pre and one-year post implant. Results Average age at implantation was 18.9 years (5-49). Aided average thresholds were 103 dB HL and 35 dB HL pre and one-year post implant, respectively. Speech perception was only possible to be measured in four patients preoperatively, who scored 13.3; 26.67; 46% vowels and 56% 4-choice. All patients except one had some kind of communication. Two were bilingual. After one year of using the device, seven patients were able to perform the speech tests (from four-choice to close set sentences) and three patients abandoned the use of the implant. Conclusion We observed that detection of sounds can be achieved with late implantation, but speech recognition is only possible in patients with previous hearing stimulation, since it depends on the development of hearing skills and the maturation of the auditory pathways.

  6. Distinctive personality profiles of fibromyalgia and chronic fatigue syndrome patients

    Directory of Open Access Journals (Sweden)

    Jacob N. Ablin

    2016-09-01

    Full Text Available Objective The current study is an innovative exploratory investigation, aiming at identifying differences in personality profiles within Fibromyalgia Syndrome (FMS and Chronic Fatigue Syndrome (CFS patients. Method In total, 344 participants (309 female, 35 male reported suffering from FMS and/or CFS and consented to participate in the study. Participants were recruited at an Israeli FM/CFS patient meeting held in May 2013, and through an announcement posted on several social networks. Participants were asked to complete a research questionnaire, which included FMS criteria and severity scales, and measures of personality, emotional functioning, positivity, social support and subjective assessment of general health. In total, 204 participants completed the research questionnaire (40.7% attrition rate. Results A cluster analysis produced two distinct clusters, which differed significantly on psychological variables, but did not differ on demographic variables or illness severity. As compared to cluster number 2 (N = 107, participants classified into cluster number 1 (N = 97 showed a less adaptive pattern, with higher levels of Harm Avoidance and Alexithymia; higher prevalence of Type D personality; and lower levels of Persistence (PS, Reward dependence (RD, Cooperation, Self-directedness (SD, social support and positivity. Conclusion The significant pattern of results indicates at least two distinct personality profiles of FM and CFS patients. Findings from this research may help improve the evaluation and treatment of FM and CFS patients, based on each patient’s unique needs, psychological resources and weaknesses, as proposed by the current trend of personalized medicine.

  7. Prevalence of Tako-Tsubo Syndrome among patients with suspicion of acute coronary syndrome referred to our centre.

    Science.gov (United States)

    Facciorusso, Antonio; Vigna, Carlo; Amico, Cesare; Lanna, Pompeo; Troiano, Giovanni; Stanislao, Mario; Valle, Guido; Santoro, Tiberio; Fanelli, Raffaele

    2009-05-15

    The Tako-Tsubo Syndrome is a clinical entity characterized by acute but rapidly reversible left ventricular systolic dysfunction and triggered by emotional or psychological stress. The aim of our study was to determine the prevalence and characteristics of this syndrome among the patients presenting to our Centre with suspicion of acute coronary syndrome. Over a 12-month period (May 2006 to April 2007), among 82 patients referred to our catheterization laboratory with suspicion of acute coronary syndrome, 4 confirmed Tako-Tsubo Syndrome (prevalence 4.87%). The patients referred to our Centre came from Foggia's province above all. The mean age of the population was 65.5 +/- 18.48 years (range 49 to 82), with a ratio of men to women of 1:3. The syndrome characterized by acute chest pain with ST-segment elevation, absence of significant lesions in each of the 3 epicardial coronary arteries by angiography, systolic dysfunction (ejection fraction 35 +/- 9.12%) with abnormal wall motion of the mid and distal LV and hyperkinesia of the basal LV, and emotional or psychological stress immediately preceding the cardiac events. Among markers of cardiac necrosis, only serum Troponin-I increased in each patients without significant elevation of CPK and with mild elevation of CK-mb and LDH. 2 patients developed hemodynamic instability. Each patient survived with normalized ejection fraction (54.25 +/- 5.05%) and rapid restoration to previous functional cardiovascular status within 4 weeks. A reversible cardiomyopathy triggered by emotional or psychological stress occurs in elderly women above all and mimic acute coronary syndrome. The diagnosis of Tako-Tsubo Syndrome is based mainly on coronary and left ventricular angiography, which excludes the diagnosis of coronary artery disease and recognizes the pattern of wall-motion abnormalities. The different epidemiology of this Syndrome reported in literature demonstrates which this cardiomyopathy is underdiagnosed.

  8. Bilateral Ramsay Hunt syndrome in a diabetic patient

    Directory of Open Access Journals (Sweden)

    Goyal Amit

    2004-12-01

    Full Text Available Abstract Background Herpes zoster oticus accounts for about 10% cases of facial palsy, which is usually unilateral and complete and full recovery occurs in only about 20% of untreated patients. Bilateral herpes zoster oticus can sometime occur in immunocompromised patients, though incidence is very rare. Case presentation Diabetic male, 57 year old presented to us with bilateral facial palsy due to herpes zoster oticus. Patient was having bilateral mild to moderate sensorineural hearing loss. Patient was treated with appropriate metabolic control, anti-inflammatory drugs and intravenous acyclovir. Due to uncontrolled diabetes, glucocorticoids were not used in this patient. Significant improvement in hearing status and facial nerve functions were seen in this patient. Conclusions Herpes zoster causes severe infections in diabetic patients and can be a cause of bilateral facial palsy and bilateral Ramsay Hunt syndrome. Herpes zoster in diabetic patients should be treated with appropriate metabolic control, NSAIDS and intravenous acyclovir, which we feel should be started at the earliest. Glucocorticoids should be avoided in diabetic patients.

  9. Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome.

    Science.gov (United States)

    Karkucak, Mutlu; Bülbül, Emel Başkan; Turan, Hakan; Yakut, Tahsin; Toka, Sevil; Sarıcaoğlu, Hayriye

    2012-09-01

    Monnose-Binding lectin (MBL) appears to play an important role in the immune system. The genetic polymorphisms in the MBL2 gene can result in a reduction of serum levels, leading to a predisposition to recurrent infection. The aim of this study is to investigate the influence of a polymorphism in codon 54 of the MBL2 gene on the susceptibility to Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome (EM, SJS and SJS/TEN overlap syndrome). Our study included 64 patients who were clinically and/or histopathologically diagnosed with EM, SJS, and SJS/TEN overlap syndrome and 66 healthy control subjects who were genotyped for the MBL2 gene codon 54 polymorphism using the PCR-RFLP method. For all statistical analyses, the level of significance was set at poverlap syndrome. However, these findings should be confirmed in studies with a larger sample size.

  10. [Serum proteomic study on hypertension patients with Gan-Dan damp-heat syndrome].

    Science.gov (United States)

    Chu, Yu-guang; Shi, Jie; Hu, Yuan-hui

    2010-01-01

    To study the serum proteomics in hypertension patients with Gan-Dan damp-heat syndrome (GDDH) for tentatively find special proteins associated with the syndrome. Study was performed in 60 hypertensive patients and 39 healthy persons as control. In the patients enrolled, 40 were differentiated as GDDH syndrome and the other 20 as non-GDDH syndrome. Their serum proteins were captured by weak cation nano-magnetic beads, and proteomic fingerprint was made by matrix assistant laser demodulation ionizing time-of-flight mass spectrometry (MALDI-TOF-MS) through mapping with protein chip reader type PBS II-C. After all the proteomic fingerprints being analyzed by Biomarker Wizard 3.1, the special expressed proteins for GDDH syndrome were identified by Biomarker Patterns Software 5.0 to create the syndrome decision model. Totally, 182 difference protein peaks between patients of GDDH and healthy persons (PChinese medicine syndrome differentiation more objectively and accurately.

  11. Patient Counselling about Stress Associated with Irritable Bowel Syndrome : - A Qualitative Study Based on Patient Experiences

    OpenAIRE

    Kortet , Carola

    2016-01-01

    The purpose of this study was to gather information from patients that have been diagnosed with irritable bowel syndrome and to investigate if they had experienced that stress affects their symptoms. In addition, it was studied if patients had received patient counselling about stress and what stress related topics the respondents would like to include in the counselling hereafter. The aim of this study was to gain information that could be utilized in the development of irritable bowel syndr...

  12. Oropharyngeal Dysphagia in patients with obstructive sleep apnea syndrome.

    Science.gov (United States)

    Schindler, Antonio; Mozzanica, Francesco; Sonzini, Giulia; Plebani, Daniela; Urbani, Emanuele; Pecis, Marica; Montano, Nicola

    2014-02-01

    Although previous studies demonstrated that patients with obstructive sleep apnea syndrome (OSAS) may present subclinical manifestations of dysphagia, in not one were different textures and volumes systematically studied. The aim of this study was to analyze the signs and symptoms of oropharyngeal dysphagia using fiberoptic endoscopic evaluation of swallowing (FEES) with boluses of different textures and volumes in a large cohort of patients with OSAS. A total of 72 OSAS patients without symptoms of dysphagia were enrolled. The cohort was divided in two groups: 30 patients with moderate OSAS and 42 patients with severe OSAS. Each patient underwent a FEES examination using 5, 10 and 20 ml of liquids and semisolids, and solids. Spillage, penetration, aspiration, retention, and piecemeal deglutition were considered. The penetration-aspiration scale (PAS), pooling score (PS), and dysphagia outcome and severity scale (DOSS) were used for quantitative analysis. Each patient completed the SWAL-QOL questionnaire. Forty-six patients (64 %) presented spillage, 20 (28 %) piecemeal deglutition, 26 (36 %) penetration, and 30 (44 %) retention. No differences were found in the PAS, PS, and DOSS scores between patients with moderate and severe OSAS. Patients with severe OSAS scored higher General Burden and Food selection subscales of the SWAL-QOL. Depending on the DOSS score, the cohort of patients was divided into those with and those without signs of dysphagia. Patients with signs of dysphagia scored lower in the General Burden and Symptoms subscales of the SWAL-QOL. OSAS patients show signs of swallowing impairment in about half of the population; clinicians involved in the management of these patients should include questions on swallowing when taking the medical history.

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

    Science.gov (United States)

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

    2013-01-01

    To analyse the correlates between the quality of life and chronic diseases and socio-demographic characteristics of patients in family medicine with a special emphasis on depression, panic syndrome, other anxiety syndrome and alcoholism. In a longitudinal study, the data set of 516 family practice attendees recruited from 60 family practices was analysed. Depression, panic syndrome, other anxiety syndrome and alcoholism were diagnosed using appropriate diagnostic interviews. Quality of life was assessed using the SF-12 questionnaire, measuring a mental health score and a physical health score. Data about the number of chronic somatic diseases were obtained from the patients' medical records. Physical health score was negatively associated with higher age (β = -0.25, p panic syndrome (β = -0.07, p panic syndrome and number of chronic somatic diseases as they are associated with poorer quality of life.

  14. Non-syndrome patient with bilateral supernumerary teeth: Case report and 9-year follow-up.

    Science.gov (United States)

    Akgun, Ozlem Marti; Sabuncuoglu, Fidan; Altug, Ayberk; Altun, Ceyhan

    2013-01-01

    The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and Tricho-rhino-phalangeal syndrome. Only a few examples of nonsyndromic multiple supernumerary teeth have been reported in literature. In this report, we present the unusual case and 9-year follow up of a non-syndrome female patient with bilateral supernumerary teeth that occurred with an interval of several years.

  15. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

    NARCIS (Netherlands)

    Maas, S.M.; Lombardi, P.M.; van Essen, A.J.; Wakeling, E.L.; Castle, B.; Temple, I.K.; Kumar, V.K.A.; Writzl, K.; Hennekam, R.C.M.

    2009-01-01

    Background: Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. Method: A series of 17 patients with

  16. Deep sedation for dental treatment in a Down syndrome patient with Eisenmenger syndrome: A case report.

    Science.gov (United States)

    Chi, Seong In; Kim, Hyun Jeong; Seo, Kwang-Suk

    2016-03-01

    Eisenmenger syndrome (ES) is characterized by pulmonary arterial hypertension and right-to-left shunting. The signs and symptoms of ES include cyanosis, shortness of breath, fatigue, hemoptysis, and sudden death. In patients with ES, it is important that the systemic and pulmonary circulations be properly distributed and maintained. General dental treatment is not known to be particularly dangerous. To control pain and anxiety, local anesthetics without epinephrine are usually recommended. However, in cases of difficulty of cooperation, general anesthesia for dental treatment makes the condition worse. In the present case, intravenous deep sedation with propofol and remifentanil was administered for behavioral management during dental treatment successfully.

  17. Proteomic analysis of Down's syndrome patients with gout.

    Science.gov (United States)

    Chen, Ying-Chou; Wang, Pei-Wen; Pan, Tai-Long; Wallace, Christopher Glenn; Chen, Chung-Jen

    2006-07-15

    In this study, the expression of hypoxanthine-guanine phosphoribosyl transferase (HPRT) in Down's syndrome patients with gout (DS/G) was determined, and possible underlying mechanisms of gout were characterized using proteomic tools. Serum was obtained from DS/G, healthy controls and gout patients (without DS), recruited from the rheumatology clinic. Baseline enzyme assays were recorded and RT-PCR used to identify HPRT gene expression. 2-D electrophoresis and mass spectrometry were utilized to determine a plausible explanation concerning the mechanisms leading to increased uric acid levels in DS patients. Two DS patients were diagnosed with gouty arthritis. Their HPRT enzyme activity was slightly lower than that of normal controls. HPRT expression was also slightly decreased in DS/G patients compared with controls. Serum protein profiles of these two DS/G patients revealed that haptoglobin alpha chain and apolipoprotein A1 (ApoA1) were both significantly down-regulated. Protein expression was validated by immunoblot. Our results revealed that low levels of haptoglobin in the two DS/G patients were related to renal dysfunction may have affected uric acid excretion and caused gout. However, decreased ApoA1 revealed a positive correlation between defective lipid metabolism and gouty arthritis in DS/G patients.

  18. Clear otorrhea: a case of Munchausen syndrome in a pediatric patient.

    Science.gov (United States)

    Ozmen, Süay; Ozmen, Omer Afşin; Yilmaz, Taner

    2008-07-01

    This paper reports a case of Munchausen syndrome in a pediatric patient. An 11-year-old girl presented with the complaint of clear fluid otorrhea. She underwent numerous investigations with deception of the physicians. The literature with respect to Munchausen syndrome in the pediatric patient is reviewed. Diagnosis of Munchausen syndrome is difficult especially during the initial assessment, although suspicion might be aroused by inconsistencies in the patient's history and discrepancies between signs and symptoms.

  19. Perioperative airway management of a patient with Beckwith-Wiedemann syndrome

    OpenAIRE

    Tsukamoto, Masanori; Hitosugi, Takashi; Yokoyama, Takeshi

    2016-01-01

    Airway obstruction in pediatric patients always poses a challenge for anesthesiologists. Beckwith-Wiedemann syndrome causes various abnormalities such as macroglossia and omphalocele. Patients with these abnormalities often need corrective surgeries. Management of difficult airway caused by conditions such as macroglossia in patients with this syndrome could be challenging. We encountered a case of difficult airway in an infant with Beckwith-Wiedemann syndrome. It was predicted that macroglos...

  20. Altered theta oscillations in resting EEG of fibromyalgia syndrome patients.

    Science.gov (United States)

    Fallon, N; Chiu, Y; Nurmikko, T; Stancak, A

    2018-01-01

    Fibromyalgia syndrome (FM) is a chronic pain disorder characterized by widespread pain, sleep disturbance, fatigue and cognitive/affective symptoms. Functional imaging studies have revealed that FM and other chronic pain syndromes can affect resting brain activity. This study utilized electroencephalographic (EEG) recordings to investigate the relative power of ongoing oscillatory activity in the resting brain. A 64-channel EEG was recorded at rest in 19 female FM patients and 18 healthy, age-matched, control subjects. The Manual Tender Point Scale (MTPS) examination was performed to quantify tonic pain and tenderness on the day of testing along with measures of mood, arousal and fatigue. Oscillations in delta, theta, alpha, beta and gamma frequency bands were analysed using Standardised Low-Resolution Brain Electromagnetic Tomography to evaluate sources of spectral activity throughout the whole brain. FM patients exhibited greater pain, tiredness and tension on the day of testing relative to healthy control participants and augmented theta activity in prefrontal and anterior cingulate cortices. No significant differences were seen in other frequency bands. Augmented frontal theta activity in FM patients significantly correlated with measures of tenderness and mean tiredness scores. The findings indicate that alterations to resting-state oscillatory activity may relate to ongoing tonic pain and fatigue in FM, and manifest in brain regions relevant for cognitive-attentional aspects of pain processing and endogenous pain inhibition. Enhanced low-frequency oscillations were previously seen in FM and other chronic pain syndromes, and may relate to pathophysiological mechanisms for ongoing pain such as thalamocortical dysrhythmia. Increased prefrontal theta activity may contribute to persistent pain in fibromyalgia or represent the outcome of prolonged symptoms. The findings point to the potential for therapeutic interventions aimed at normalizing neural oscillations

  1. Tumor lysis syndrome: prevention and detection to enhance patient safety.

    Science.gov (United States)

    Maloney, Kristen; Denno, Mary

    2011-12-01

    Patient safety is at the forefront of health care and nursing practice. Oncology nurses strive to provide safe oncologic care in their management of cancer, treatments, and side effects. Oncologic emergencies such as tumor lysis syndrome (TLS), however, are serious complications of cancer and cancer treatment. TLS often is seen in hematologic malignancies, such as lymphomas and leukemias, that frequently occur in older adults. As the population in the United States continues to age, nurses must be prepared to manage oncologic emergencies in older adults. Understanding the risk factors and preventive strategies for TLS provides oncology nurses with a foundation for managing a serious treatment complication. Patients and their caregivers need to understand the importance of preventive measures for TLS; therefore, patient education must be a critical part of the oncology nurse's plan of care.

  2. Cephalohematoma in a Patient with Ehlers-Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Brent M Felton

    2013-09-01

    Full Text Available Ehlers-Danlos syndrome is a rarely encountered connective tissue disorder characterized by skin hyper-elasticity, joint hyper-flexibility, and vasculature fragility. We report a 41-year-old female presenting with scalp swelling following minor head trauma. The patient presented with a large cephalohematoma that despite compressive measures and Factor IX administration continued to progress, necessitating transfer for definitive surgical intervention. The patient underwent surgical evacuation of approximately 1 liter of blood, followed by drain placement and compression dressing. This case underscores the importance for emergency physicians to recognize the potential vascular catastrophes these patients may present with following even minor injury. [West J Emerg Med. 2013;14(5:419-420.

  3. Suicidal Behavior in a Patient with Burning Mouth Syndrome

    Directory of Open Access Journals (Sweden)

    Konstantinos Kontoangelos

    2014-01-01

    Full Text Available Introduction. Chronic pain of the oral cavity is a long-term condition and like all other types of chronic pain is associated with numerous comorbidities such as depression or anxiety. Case Presentation. This is a case of a 93-year-old patient suffering from chronic oral cavity pain who repeatedly stabbed his palate due to ongoing local pain, over the last few months, which he could not further tolerate. The patient was suffering from depression and also a diagnosis of “burning mouth syndrome” (BMS was made. Discussion. Burning mouth syndrome (BMS is characterized by a burning sensation in the tongue or other oral sites. BMS has high psychiatric comorbidity but can occur in the absence of psychiatric diagnosis. Patients with multiple forms of pain must be considered as potential candidates for underdiagnosed depression (major and suicidal thoughts.

  4. Is synaesthesia more common in patients with Asperger syndrome?

    Directory of Open Access Journals (Sweden)

    Janina eNeufeld

    2013-12-01

    Full Text Available There is increasing evidence from case reports that synaesthesia is more common in individuals with autism spectrum conditions (ASC. Further, genes related to synaesthesia have also been found to be linked to ASC and, similar to synaesthetes, individuals with ASC show altered brain connectivity and unusual brain activation during sensory processing. However, up to now a systematic investigation of whether synaesthesia is more common in ASC patients is missing.The aim of the current pilot study was to test this hypothesis by investigating a group of patients diagnosed with Asperger Syndrome (AS using questionnaires and standard consistency tests in order to classify them as grapheme-colour synaesthetes. The results indicate that there are indeed many more grapheme-colour synaesthetes among AS patients. This finding is discussed in relation to different theories regarding the development of synaesthesia as well as altered sensory processing in autism.

  5. Is synesthesia more common in patients with Asperger syndrome?

    Science.gov (United States)

    Neufeld, Janina; Roy, Mandy; Zapf, Antonia; Sinke, Christopher; Emrich, Hinderk M; Prox-Vagedes, Vanessa; Dillo, Wolfgang; Zedler, Markus

    2013-01-01

    There is increasing evidence from case reports that synesthesia is more common in individuals with autism spectrum conditions (ASC). Further, genes related to synesthesia have also been found to be linked to ASC and, similar to synaesthetes, individuals with ASC show altered brain connectivity and unusual brain activation during sensory processing. However, up to now a systematic investigation of whether synesthesia is more common in ASC patients is missing. The aim of the current pilot study was to test this hypothesis by investigating a group of patients diagnosed with Asperger Syndrome (AS) using questionnaires and standard consistency tests in order to classify them as grapheme-color synaesthetes. The results indicate that there are indeed many more grapheme-color synaesthetes among AS patients. This finding is discussed in relation to different theories regarding the development of synesthesia as well as altered sensory processing in autism.

  6. Underuse of an invasive strategy for patients with diabetes with acute coronary syndrome

    DEFF Research Database (Denmark)

    Gustafsson, Ida; Hvelplund, Anders; Hansen, Kim Wadt

    2015-01-01

    BACKGROUND: Guidelines recommend an early invasive strategy for patients with diabetes with acute coronary syndromes (ACS). We investigated if patients with diabetes with ACS are offered coronary angiography (CAG) and revascularisation to the same extent as patients without diabetes. METHODS...

  7. Familial Restless Legs Syndrome: A Family with all Female Patients.

    Science.gov (United States)

    Akpinar, Cetin Kursad; Turker, Hande; Aygun, Dursun; Aytac, Emrah

    2017-02-01

    Restless legs syndrome (RLS) is a chronic condition characterized by odd sensations in the body, most commonly in the legs and an irresistible urge to move them. More than half of the patients with RLS have a family history. Most of the RLS cases are women and most of the families show characteristics of an autosomal dominant pedigree. Here, we shall present a family consisting only of women; to our knowledge, such a family has not been reported yet. The family presented here met the diagnosis criteria specified by International Restless Legs Syndrome Study Group (IRLSS). Clinical characteristic are described along with demographic properties. The patients were between 12 and 59 years of age with a mean age of 35.3 ± 14.4 years. All 7 cases were women. The pedigree of the patients exhibited an autosomal dominant inheritance pattern. The present family tree indicates that familial RLS can exhibit a heredity pattern which shows autosomal dominant inheritance. The present family is still under follow-up. Future research is required to support the present data.

  8. Management of Diabetes Mellitus in Patients with Acquired Immunodeficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Miulescu Rucsandra Dănciulescu

    2014-06-01

    Full Text Available Acquired immunodeficiency syndrome (AIDS is a human immune system disease characterized by increased susceptibility to opportunistic infections, certain cancers and neurological disorders. The syndrome is caused by the human immunodeficiency virus (HIV that is transmitted through blood or blood products, sexual contact or contaminated hypodermic needles. Antiretroviral treatment reduces the mortality and the morbidity of HIV infection but is increasingly reported to be associated with increasing reports of metabolic abnormalities. The prevalence and incidence of diabetes mellitus in patients on antiretroviral therapy is high. Recently, a joint panel of American Diabetes Association (ADA and European Association for the Study of Diabetes (EASD experts updated the treatment recommendations for type 2 diabetes (T2DM in a consensus statement which provides guidance to health care providers. The ADA and EASD consensus statement concur that intervention in T2DM should be early, intensive, and uncompromisingly focused on maintaining glycemic levels as close as possible to the nondiabetic range. Intensive glucose management has been shown to reduce microvascular complications of diabetes but no significant benefits on cardiovascular diseases. Patients with diabetes have a high risk for cardiovascular disease and the treatment of diabetes should emphasize reduction of the cardiovascular factors risk. The treatment of diabetes mellitus in AIDS patients often involves polypharmacy, which increases the risk of suboptimal adherence

  9. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

    Science.gov (United States)

    Olson, Heather E; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E; Poduri, Annapurna

    2015-09-01

    Rett syndrome and neurodevelopmental disorders with features overlapping this syndrome frequently remain unexplained in patients without clinically identified MECP2 mutations. We recruited a cohort of 11 patients with features of Rett syndrome and negative initial clinical testing for mutations in MECP2. We analyzed their phenotypes to determine whether patients met formal criteria for Rett syndrome, reviewed repeat clinical genetic testing, and performed exome sequencing of the probands. Using 2010 diagnostic criteria, three patients had classical Rett syndrome, including two for whom repeat MECP2 gene testing had identified mutations. In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1. Among seven patients with features of Rett syndrome not fulfilling formal diagnostic criteria, four had suspected pathogenic mutations, one each in MECP2, FOXG1, SCN8A, and IQSEC2. MECP2 mutations are highly correlated with classical Rett syndrome. Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative MECP2 testing. While most of the identified mutations were apparently de novo, the SCN8A variant was inherited from an unaffected parent mosaic for the mutation, which is important to note for counseling regarding recurrence risks. © 2015 Wiley Periodicals, Inc.

  10. Chest wall myositis in a patient with acute coronary syndrome

    OpenAIRE

    Hussein, Laila; Al-Rawi, Harith

    2014-01-01

    We describe a case of a 42-year-old man who presented to the emergency department with severe left-sided chest pain and chest tenderness of 1-day duration. The pain was episodic and was aggravated by any chest wall movement. His initial blood tests and ECG were suggestive of acute coronary syndrome (ACS). However, his pattern of pain, lack of response to opiates, raised creatine kinase and signs of pleurisy on chest radiograph raised a suspicion of an alternative diagnosis. The patient showed...

  11. Pharmacological Treatment of Obesity in Patients with Polycystic Ovary Syndrome

    Directory of Open Access Journals (Sweden)

    Hassan Kahal

    2011-01-01

    Full Text Available Polycystic ovary syndrome (PCOS is a common disorder affecting women of reproductive age and it is associated with increased cardiovascular risk. Obesity plays an important role in the pathogenesis of PCOS, and the majority of patients with PCOS are obese. Over the last 20 years, the prevalence of obesity has dramatically increased, with probable associated increase in PCOS. Weight reduction plays an integral part in the management of women with PCOS. In this paper, current available weight reduction therapies in the management of PCOS are discussed.

  12. Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome.

    Science.gov (United States)

    Pouliquen, D; Goldenberg, A; Hannequin, D; Lecointre, C; Lechevallier, J; Cormier-Daire, V; Martinaud, O

    2012-01-01

    The Floating Harbor syndrome is a rare genetic disease characterized by a triad of clinical signs: specific dysmorphic facial features, short stature with delayed bone age, and language and speech disorders. These signs are, in most cases, associated with borderline normal intelligence to moderate delay concerning intellectual functioning. We report an extensive neuropsychological evaluation for an adult female patient and show, in particular, a severe visuospatial impairment. We discuss this deficit in the light of the previous reported cases and suggest that visuospatial abilities should be explored more systematically.

  13. Posterior reversible encephalopathy syndrome in a patient of organophosphate poisoning.

    Science.gov (United States)

    Phatake, Rajesh; Desai, Sameer; Lodaya, Manikanth; Deshpande, Shrinivas; Tankasali, Nagaraj

    2014-04-01

    A 32-year-old male presented with a history of consuming some organophosphorous compound with suicidal intention. He was treated with atropine, pralidoxime, ventilator support. During stay patient had persistent irritability, tachycardiaand hypertension despite sedation and labetalol infusion. He developed headache, visual blurring hemiparesis and focal seizures. Magnetic resonance imaging of the brain revealed multifocal hyperintensities mainly in subcortical areas of parietal and occipital regions in T2-weighted images, with increased values of Apparent Diffusion Coefficient, suggesting posterior reversible encephalopathy syndrome (PRES). The possibilities of PRES caused by organophosphorous poisoning either due to hypertension caused by autonomic deregulation or direct neurological toxicity has been discussed.

  14. Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome

    Directory of Open Access Journals (Sweden)

    Hisham Megahed

    2015-03-01

    Conclusions: Mutation screening for MECP2 is a fast and reliable method to diagnose patients clinically suspected to suffer from Rett syndrome or female patients with atypical Rett syndrome features, mental retardation, developmental delay and other neurological abnormalities who do not fit any specific diagnosis. Also, patients with MECP2 mutation presented with a more severe phenotype.

  15. Population pharmacokinetics of ticagrelor in patients with acute coronary syndromes.

    Science.gov (United States)

    Li, Jianguo; Tang, Weifeng; Storey, Robert F; Husted, Steen; Teng, Renli

    2016-09-01

    Ticagrelor is an orally administered antiplatelet agent used to reduce thrombotic events in patients with acute coronary syndromes. Data from two studies in patients with acute coronary syndromes with large amounts of pharmacokinetic (PK) data (phase IIb DISPERSE-2 study (n = 609)); phase III PLATO PK substudy (n = 6,381)), along with non-linear mixed effects modeling software, were used to develop population PK models for ticagrelor and its metabolite, AR-C124910XX, and to evaluate the impact of demographic and clinical factors on the PK of ticagrelor and AR-C124910XX. 32 covariates relating to disease history, biomarkers, clinical chemistry, and concomitant medications were assessed. A one-compartment model with population mean PK parameters of firstorder absorption rate constant (0.67/h), apparent systemic clearance (14 L/h), and apparent volume of distribution (221 L) was shown to best describe the PK profile of ticagrelor. Patients co-administered moderate CYP3A inducers or inhibitors increased (by 110%, 95% confidence interval (CI), 52 - 192%) or decreased (by 64%, 95% CI, 39 - 73%) apparent ticagrelor clearance, respectively, while habitual smoking decreased apparent ticagrelor clearance by 22% (95% CI, 19 - 25%). Ticagrelor bioavailability was 21% (95% CI, 19 - 22%) lower at treatment initiation (visit 1) versus subsequent visits. Compared with Caucasian patients, ticagrelor bioavailability was 39% (95% CI, 33 - 46%) higher in Asian patients and 18% (95% CI, 6 - 28%) lower in Black patients. In the current analyses, the population PK models developed for ticagrelor and AR-C124910XX described the data obtained in the DISPERSE-2 and PLATO studies well, and were consistent with previous phase I PK studies.

  16. Metabolomic Biomarkers in Urine of Cushing’s Syndrome Patients

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    Alicja Kotłowska

    2017-01-01

    Full Text Available Cushing’s syndrome (CS is a disease which results from excessive levels of cortisol in the human body. The disorder is associated with various signs and symptoms which are also common for the general population not suffering from compound hypersecretion. Thus, more sensitive and selective methods are required for the diagnosis of CS. This follow-up study was conducted to determine which steroid metabolites could serve as potential indicators of CS and possible subclinical hypercortisolism in patients diagnosed with so called non-functioning adrenal incidentalomas (AIs. Urine samples from negative controls (n = 37, patients with CS characterized by hypercortisolism and excluding iatrogenic CS (n = 16, and patients with non-functioning AIs with possible subclinical Cushing’s syndrome (n = 25 were analyzed using gas chromatography-mass spectrometry (GC/MS and gas chromatograph equipped with flame ionization detector (GC/FID. Statistical and multivariate methods were applied to investigate the profile differences between examined individuals. The analyses revealed hormonal differences between patients with CS and the rest of examined individuals. The concentrations of selected metabolites of cortisol, androgens, and pregnenetriol were elevated whereas the levels of tetrahydrocortisone were decreased for CS when opposed to the rest of the study population. Moreover, after analysis of potential confounding factors, it was also possible to distinguish six steroid hormones which discriminated CS patients from other study subjects. The obtained discriminant functions enabled classification of CS patients and AI group characterized by mild hypersecretion of cortisol metabolites. It can be concluded that steroid hormones selected by applying urinary profiling may serve the role of potential biomarkers of CS and can aid in its early diagnosis.

  17. Metabolomic Biomarkers in Urine of Cushing's Syndrome Patients.

    Science.gov (United States)

    Kotłowska, Alicja; Puzyn, Tomasz; Sworczak, Krzysztof; Stepnowski, Piotr; Szefer, Piotr

    2017-01-29

    Cushing's syndrome (CS) is a disease which results from excessive levels of cortisol in the human body. The disorder is associated with various signs and symptoms which are also common for the general population not suffering from compound hypersecretion. Thus, more sensitive and selective methods are required for the diagnosis of CS. This follow-up study was conducted to determine which steroid metabolites could serve as potential indicators of CS and possible subclinical hypercortisolism in patients diagnosed with so called non-functioning adrenal incidentalomas (AIs). Urine samples from negative controls ( n = 37), patients with CS characterized by hypercortisolism and excluding iatrogenic CS ( n = 16), and patients with non-functioning AIs with possible subclinical Cushing's syndrome ( n = 25) were analyzed using gas chromatography-mass spectrometry (GC/MS) and gas chromatograph equipped with flame ionization detector (GC/FID). Statistical and multivariate methods were applied to investigate the profile differences between examined individuals. The analyses revealed hormonal differences between patients with CS and the rest of examined individuals. The concentrations of selected metabolites of cortisol, androgens, and pregnenetriol were elevated whereas the levels of tetrahydrocortisone were decreased for CS when opposed to the rest of the study population. Moreover, after analysis of potential confounding factors, it was also possible to distinguish six steroid hormones which discriminated CS patients from other study subjects. The obtained discriminant functions enabled classification of CS patients and AI group characterized by mild hypersecretion of cortisol metabolites. It can be concluded that steroid hormones selected by applying urinary profiling may serve the role of potential biomarkers of CS and can aid in its early diagnosis.

  18. Metabolomic Biomarkers in Urine of Cushing’s Syndrome Patients

    Science.gov (United States)

    Kotłowska, Alicja; Puzyn, Tomasz; Sworczak, Krzysztof; Stepnowski, Piotr; Szefer, Piotr

    2017-01-01

    Cushing’s syndrome (CS) is a disease which results from excessive levels of cortisol in the human body. The disorder is associated with various signs and symptoms which are also common for the general population not suffering from compound hypersecretion. Thus, more sensitive and selective methods are required for the diagnosis of CS. This follow-up study was conducted to determine which steroid metabolites could serve as potential indicators of CS and possible subclinical hypercortisolism in patients diagnosed with so called non-functioning adrenal incidentalomas (AIs). Urine samples from negative controls (n = 37), patients with CS characterized by hypercortisolism and excluding iatrogenic CS (n = 16), and patients with non-functioning AIs with possible subclinical Cushing’s syndrome (n = 25) were analyzed using gas chromatography-mass spectrometry (GC/MS) and gas chromatograph equipped with flame ionization detector (GC/FID). Statistical and multivariate methods were applied to investigate the profile differences between examined individuals. The analyses revealed hormonal differences between patients with CS and the rest of examined individuals. The concentrations of selected metabolites of cortisol, androgens, and pregnenetriol were elevated whereas the levels of tetrahydrocortisone were decreased for CS when opposed to the rest of the study population. Moreover, after analysis of potential confounding factors, it was also possible to distinguish six steroid hormones which discriminated CS patients from other study subjects. The obtained discriminant functions enabled classification of CS patients and AI group characterized by mild hypersecretion of cortisol metabolites. It can be concluded that steroid hormones selected by applying urinary profiling may serve the role of potential biomarkers of CS and can aid in its early diagnosis. PMID:28146078

  19. Current hypotheses on how microsatellite instability leads to enhanced survival of Lynch Syndrome patients.

    Science.gov (United States)

    Drescher, Kristen M; Sharma, Poonam; Lynch, Henry T

    2010-01-01

    High levels of microsatellite instability (MSI-high) are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS) colorectal cancer. Many of the characteristics associated with Lynch Syndrome including enhanced survival are also observed in patients with sporadic MSI-high colorectal cancer. In this review we will present the current state of knowledge regarding the mechanisms that are utilized by the host to control colorectal cancer in Lynch Syndrome and why these same mechanisms fail in MSS colorectal cancers.

  20. Current Hypotheses on How Microsatellite Instability Leads to Enhanced Survival of Lynch Syndrome Patients

    Directory of Open Access Journals (Sweden)

    Kristen M. Drescher

    2010-01-01

    Full Text Available High levels of microsatellite instability (MSI-high are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS colorectal cancer. Many of the characteristics associated with Lynch Syndrome including enhanced survival are also observed in patients with sporadic MSI-high colorectal cancer. In this review we will present the current state of knowledge regarding the mechanisms that are utilized by the host to control colorectal cancer in Lynch Syndrome and why these same mechanisms fail in MSS colorectal cancers.

  1. [Pulmonary hypertension in patients with systemic scleroderma with CREST-syndrome and without it].

    Science.gov (United States)

    Karoli, N A; Rebrov, A P; Orlova, E E

    2004-01-01

    To study incidence rate and characteristics of pulmonary hypertension development in patients with systemic sclerosis (SS). The study included 31 SS patients (30 females, 1 male, age 33-75 years, mean age 47.7 +/- 1.7 years). Pulmonary hypertension occurred more frequently in SS patients with CREST-syndrome than in SS patients free of this syndrome. SS patients with CREST-syndrome had also more severe ventricular hypertrophy than ventricular dilation. Echocardiography proved to be a highly informative method for detection of pulmonary hypertension in patients with SS. The necessity of hemodynamical study in SS patients is emphasized.

  2. Gestational, perinatal and family findings of patients with Patau syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-12-01

    Full Text Available OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS. METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%. Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%; multiparous mothers (92.6%; vaginal delivery (77%; preterm birth (34.6%; birth weight <2500g (33.3%, and Apgar scores <7 in the 1st (75% and in the 5th minute (42.9%. About half of them (53% died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.

  3. [Microalbuminuria in pediatric patients diagnosed with hemolytic uremic syndrome].

    Science.gov (United States)

    Cubillos C, María Paz; Del Salas, Paulina; Zambrano, Pedro O

    2015-01-01

    Hemolytic uremic syndrome (HUS) is characterized by the presence of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. It is the leading cause of acute kidney failure in children under 3 years of age. A variable number of patients develop proteinuria, hypertension, and chronic renal failure. To evaluate the renal involvement in pediatric patients diagnosed with HUS using the microalbumin/creatinine ratio. Descriptive concurrent cohort study that analyzed the presence of microalbuminuria in patients diagnosed with HUS between January 2001 and March 2012, who evolved without hypertension and normal renal function (clearance greater than 90ml/min using Schwartz formula). Demographic factors (age, sex), clinical presentation at time of diagnosis, use of antibiotics prior to admission, and need for renal replacement therapy were evaluated. Of the 24 patients studied, 54% were male. The mean age at diagnosis was two years. Peritoneal dialysis was required in 45%, and 33% developed persistent microalbuminuria. Antiproteinuric treatment was introduce in 4 patients, with good response. The mean follow-up was 6 years (range 6 months to 11 years). The serum creatinine returned to normal in all patients during follow up. The percentage of persistent microalbuminuria found in patients with a previous diagnosis of HUS was similar in our group to that described in the literature. Antiproteinuric treatment could delay kidney damage, but further multicenter prospective studies are necessary. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  4. Restless Leg Syndrome and Sleep Quality in Lumbar Radiculopathy Patients

    Directory of Open Access Journals (Sweden)

    Ersoy Kocabicak

    2014-01-01

    Full Text Available Background. To investigate the frequency of restless leg syndrome (RLS, sleep quality impairment, depression, fatigue, and sleep behavior disorder and to determine the effects of surgery on these parameters in radiculopathy patients resistant to conservative treatment. Methods. The present study included 66 lumbar radiculopathy patients, who were resistant to conservative treatment and had indication of surgery. Five different questionnaires were performed to assess depression (the Beck Depression Inventory (BDI, sleep quality (the Pittsburgh Sleep Quality Index (PSQI, fatigue (the Fatigue Severity Scale (FSS, and presence of RLS and rapid eye movement sleep behavior disorder (RBD. The same questionnaires were also performed on a control group (n=61. Results. Of the radiculopathy patients, 68.1% had RLS and 92.4% had fatigue. Of the controls, 16.4% had RLS and 59% had fatigue. RBD was present in 8 (12.1% patients and 3 (4.9% controls. The PSQI revealed that sleep quality was impaired in 46 (69.7% patients and 35 (57.4% controls (P>0.05. The number of individuals having substantial depression according to the BDI was significantly higher in the patients than in the controls. Conclusions. There was a significant increase in the frequency of RLS, which was significantly decreased in the postoperative period in the radiculopathy patients.

  5. Restless leg syndrome and sleep quality in lumbar radiculopathy patients.

    Science.gov (United States)

    Kocabicak, Ersoy; Terzi, Murat; Akpinar, Kursad; Paksoy, Kemal; Cebeci, Ibrahim; Iyigun, Omer

    2014-01-01

    To investigate the frequency of restless leg syndrome (RLS), sleep quality impairment, depression, fatigue, and sleep behavior disorder and to determine the effects of surgery on these parameters in radiculopathy patients resistant to conservative treatment. The present study included 66 lumbar radiculopathy patients, who were resistant to conservative treatment and had indication of surgery. Five different questionnaires were performed to assess depression (the Beck Depression Inventory (BDI)), sleep quality (the Pittsburgh Sleep Quality Index (PSQI)), fatigue (the Fatigue Severity Scale (FSS)), and presence of RLS and rapid eye movement sleep behavior disorder (RBD). The same questionnaires were also performed on a control group (n = 61). Of the radiculopathy patients, 68.1% had RLS and 92.4% had fatigue. Of the controls, 16.4% had RLS and 59% had fatigue. RBD was present in 8 (12.1%) patients and 3 (4.9%) controls. The PSQI revealed that sleep quality was impaired in 46 (69.7%) patients and 35 (57.4%) controls (P > 0.05). The number of individuals having substantial depression according to the BDI was significantly higher in the patients than in the controls. There was a significant increase in the frequency of RLS, which was significantly decreased in the postoperative period in the radiculopathy patients.

  6. Blood pressure in pediatric patients with Cushing syndrome.

    Science.gov (United States)

    Lodish, Maya B; Sinaii, Ninet; Patronas, Nicholas; Batista, Dalia L; Keil, Meg; Samuel, Jonelle; Moran, Jason; Verma, Somya; Popovic, Jadranka; Stratakis, Constantine A

    2009-06-01

    Hypertension (HTN) has been reported in up to 60% of children with Cushing syndrome (CS), but its course, side effects, and potential differences among various causes of CS have not been adequately studied. The objective of the study was to measure blood pressure in pediatric patients with CS before and after transphenoidal surgery or adrenalectomy and identify side effects and rates of residual HTN. Data from 86 children with corticotropinomas [Cushing disease (CD)] and 27 children with ACTH-independent CS (AICS) were analyzed. Patients with CD and AICS had significant HTN before surgery; more patients with AICS had systolic HTN (SHTN) than with CD (74 vs. 44%, P = 0.0077), but the rate of diastolic HTN (DHTN) was similar. Both groups experienced significant decreases in SHTN immediately after transphenoidal surgery and adrenalectomy. One year postoperatively, both SHTN and DHTN were lower than the preoperative values in all patients, but as many as 16 and 4% of the patients with CD and 21 and 5% of the patients with AICS still had SHTN and DHTN, respectively. Higher blood pressure preoperatively correlated with cortisol levels. Two patients suffered serious side effects: one with multiple infarcts and another with hypertensive encephalopathy. Children with CS are at risk for residual HTN despite a significant improvement after surgical cure. HTN appears to correlate with the degree of hypercortisolemia. Serious HTN-related side effects, although rare, may occur during the perioperative period.

  7. Health anxiety and depression in patients with fibromyalgia syndrome.

    Science.gov (United States)

    Uçar, Mehmet; Sarp, Ümit; Karaaslan, Özgül; Gül, Ali Irfan; Tanik, Nermin; Arik, Hasan Onur

    2015-10-01

    To investigate health anxiety and depressive symptoms in patients with fibromyalgia syndrome (FMS). Patients with FMS and healthy control subjects were recruited. All participants completed the Health Anxiety Inventory Short Form (HAI-SF) and Beck Depression Inventory (BDI). Pain was assessed in patients with FMS using the Fibromyalgia Impact Questionnaire (FIQ) and Visual Analogue Scale (VAS). This study involved 95 patients with FMS (15 male) and 95 healthy controls (17 male). Mean ± SD HAI-SF and BDI scores were significantly higher in patients with FMS = than in controls=. HAI-SF scores were 23.50 ± 10.78 and 9.38 ± 4.24 respectively; BDI scores were 18.64 ± 10.11 and 6.21 ± 4.05 respectively. There were highly significant correlations between FIQ and HAI-SF, FIQ and BDI, and HAI-SF and BDI. Patients with FMS had significantly higher HAI-SF and BDI scores than healthy controls. Psychiatric support is essential for patients with FMS. Treatment should include biological, psychological and social approaches. © The Author(s) 2015.

  8. Gestational, perinatal and family findings of patients with Patau syndrome.

    Science.gov (United States)

    Rosa, Rafael Fabiano M; Sarmento, Melina Vaz; Polli, Janaina Borges; Groff, Daniela de Paoli; Petry, Patrícia; Mattos, Vinícius Freitas de; Rosa, Rosana Cardoso M; Trevisan, Patrícia; Zen, Paulo Ricardo G

    2013-12-01

    To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%). Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%); multiparous mothers (92.6%); vaginal delivery (77%); preterm birth (34.6%); birth weight <2500g (33.3%), and Apgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.

  9. 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.

  10. Prevalence, characteristics, and in-hospital outcomes of metabolic syndrome among acute coronary syndrome patients from Oman.

    Science.gov (United States)

    Al-Rasadi, Khalid; Sulaiman, Kadhim; Panduranga, Prashanth; Al-Zakwani, Ibrahim

    2011-07-01

    We evaluated in-hospital outcomes of acute coronary syndrome (ACS) patients with metabolic syndrome (MetS) in Oman. We analyzed the records of 1392 patients admitted with a diagnosis of ACS as part of the Gulf Registry of Acute Coronary Events. The prevalence of MetS among patients with ACS was 66%, with female preponderance (80% vs 57%; P II (13% vs 8%; P = .004), and non-ST segment elevation myocardial infarction (78% vs 68%; P Prevalence of MetS among patients with ACS in Oman is high. MetS was associated with higher in-hospital heart failure and mortality.

  11. [Treatment motivation in patients with chronic cardiorenal syndrome].

    Science.gov (United States)

    Efremova, E V; Shutov, A M; Borodulina, E O

    2015-01-01

    To study treatment motivation in patients with chronic heart failure (CHF) and in those with CHF concurrent with chronic kidney disease (CKD). A total of 203 patients (130 men and 73 women; mean age, 61.8±9.6 years) with CHF diagnosed and assessed in accordance with the National Guidelines of the All-Russian Research Society of Cardiology and the Heart Failure Society for the diagnosis and treatment of CHF (third edition, 2009) were examined. CKD was diagnosed according to the 2012 National Guidelines of the Research Nephrology Society of Russia. A group of patients with chronic cardiorenal syndrome (CRS) included those with CHF and CKD with a glomerular filtration rate (GFR) of motivation for non-drug and drug treatments were assessed in patients with chronic CRS. CFR was 67.7±17.2 ml/min/1.73 m2; chronic CRS was observed in 89 (44%) patients. Psychological functioning assessment showed that the patients with chronic CRS as compared with those with CHF without CKD had high anxiety and maladaptive disease attitudes. CHF treatment motivation (compliance with lifestyle modification and medication) was proved inadequate and detected only in 31 (15.3%) patients with CHF regardless of the presence of CKD. The specific features of psychological functioning, which affected treatment motivation, were seen in patients with chronic CRS: those who were lowly motivated had a euphoric attitude towards their disease (p=0.03); those who were satisfactorily motivated showed an emotive accentuation of character (p=0.002). The presence of CKD aggravates the clinical course of CHF and negatively affects the psychological functioning of patients with CHF. The patients with chronic CRS are characterized by a low level of motivation for both drug and non-drug treatments, which should be taken into account when managing this cohort of patients.

  12. Metabolic syndrome in patients with peripheral arterial disease.

    Science.gov (United States)

    Estirado, E; Lahoz, C; Laguna, F; García-Iglesias, F; González-Alegre, M T; Mostaza, J M

    2014-11-01

    The prevalence of metabolic syndrome (MS) in patients with peripheral arterial disease (PAD) and coronary or cerebrovascular disease is increasing, but it is not known whether this association also exists in patients with isolated PAD. The aim of the current study was to assess the prevalence of MS in patients with PAD who had no coronary or cerebrovascular disease, the prescription rate of evidence-based cardiovascular therapies and the attainment of therapeutic goals in patients with PAD and with and without MS. Multicenter, cross-sectional study of 3.934 patients aged ≥ 45 years with isolated PAD who were treated in primary care and specialized outpatient clinics during 2009. A diagnosis of PAD was reached for ankle brachial indices <0.9, a previous history of amputation or revascularization. In the overall population, the mean age was 67.6 years, 73.8% were males and 63% had MS (95% CI 61.5-64.3%). Patients with MS had a higher prevalence of cardiovascular risk factors and comorbidities, more severe PAD and higher prescription rate of evidence-based cardiovascular therapies. After adjusting for risk factors and comorbidity, there was a more frequent use of renin-angiotensin system blockers, beta-blockers, diuretics and statins among the patients with MS. A lower percentage of patients with MS achieved the therapeutic goals for blood pressure (22% vs. 41.5%, p<0.001). Similarly, a lower percentage of patients with diabetes achieved the glycated hemoglobin goals (44% vs. 53.1%, p<0.001), with no differences in LDL-cholesterol levels (29.8% vs. 39.1%, p=0.265). Patients with PAD have a high prevalence of MS. Patients with MS do not attain therapeutic goals as frequently as those without, despite taking more cardiovascular drugs. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  13. Outcome of Guillain–Barre syndrome patients with respiratory paralysis

    Science.gov (United States)

    Kalita, J.; Ranjan, A.

    2016-01-01

    Background and Aims: To evaluate the outcome of patients with Guillain–Barre syndrome (GBS) having respiratory failure treated with modified intubation policy. Design and Methods: Consecutive patients with GBS having single breath count below 12 and respiratory rate >30/min were included and their clinical details noted. The patients were intubated and mechanically ventilated (MV) if their PaO2 was  50 mmHg or pH < 7.3. Their electrophysiological subtypes and complications were noted. The hospital mortality and 3 months outcome were compared in MV and those could be managed without MV even with respiratory compromise. Results: Out of 369 patients, 102 (27.6%) patients had respiratory compromise who were included in this study. Of the patients with respiratory compromise, 44 (43.1%) were intubated and mechanically ventilated after a median of 4 days of hospitalization. The median duration of MV was 21 (range 1–88) days. The patients with autonomic dysfunction (56.8% vs. 19%), facial weakness (78% vs. 36.2%), bulbar weakness (81.8% vs. 31%), severe weakness (63.8% vs. 31%) and high transaminase level (47.7% vs. 25.9%) needed MV more frequently. In our study, 6.8% patients died and 26.6% had poor outcome which was similar between MV and non-MV patients. The MV patients had longer hospitalization and more complications compared with non-MV group. Conclusion: In GBS patients with respiratory compromise, conservative intubation does not increase mortality and disability. PMID:26475599

  14. 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.

  15. Odontostomatological aspects in patients with Goldenhar syndrome: a series of 9 patients.

    Science.gov (United States)

    Cingano, L; Cohen, E; Cohen, A; Giordanetto, J; Loria, P; Calcagno, E

    2013-10-01

    The authors observed and followed nine patients with Goldenhar syndrome to identify the variability and severity malformations mainly affecting the orofacial district, but also other systems. Considering the severity of the lesions and the affected organs and tissues, the authors report preventive and therapeutic approaches, which present considerable difficulties in timing and quality of interventions.

  16. A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.

    Science.gov (United States)

    Napier, Kathryn R; Tones, Megan; Simons, Chloe; Heussler, Helen; Hunter, Adam A; Cross, Meagan; Bellgard, Matthew I

    2017-08-01

    Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is currently no cure for AS, though several pharmaceutical companies are anticipating drug trials for new therapies to treat AS. The Foundation for Angelman Therapeutics (FAST) Australia therefore identified a need for a global AS patient registry to identify patients for recruitment for clinical trials.The Global AS Registry was deployed in September 2016 utilising the Rare Disease Registry Framework, an open-source tool that enables the efficient creation and management of patient registries. The Global AS Registry is web-based and allows parents and guardians worldwide to register, provide informed consent, and enter data on individuals with AS. 286 patients have registered in the first 8 months since deployment.We demonstrate the successful deployment of the first patient-driven global registry for AS. The data generated from the Global AS Registry will be crucial in identifying patients suitable for clinical trials and in informing research that will identify treatments for AS, and ultimately improve the lives of individuals and their families living with AS.

  17. Rufinamide in patients with Lennox-Gastaut syndrome

    Directory of Open Access Journals (Sweden)

    Clark PO

    2016-11-01

    Full Text Available Peggy O Clark,1 Patricia A Gibson2 1Cincinnati Children’s Hospital Medical Center, The University of Cincinnati College of Medicine, Cincinnati, OH, 2Epilepsy Information Service, Wake Forest University School of Medicine, Winston-Salem, NC, USA Objectives: Lennox–Gastaut syndrome (LGS is an epileptic encephalopathy with an onset at the age of ~4 years. LGS is notoriously difficult to manage, as most patients experience multiple seizures per day, despite their concomitant use of several antiepileptic drugs (AEDs. Rufinamide (BANZEL® is an AED approved by the US Food and Drug Administration for the adjunctive treatment of seizures associated with LGS in pediatric patients aged ≥1 year and in adults. The expert care of nurses knowledgeable in the treatment options for LGS is valuable to patients and caregivers. This review summarizes the existing knowledge on LGS and data from clinical and real-world studies on the use of rufinamide in patients with LGS.Methods: Recent review articles and information from the Epilepsy Foundation Website were reviewed for data on LGS treatment. Primary articles on rufinamide were also selected for review.Results and conclusion: The efficacy and safety of rufinamide have been evaluated in children and adults by using double-blind, open-label, and observational studies. In general, these studies indicate that rufinamide effectively reduces the frequency and severity of multiple seizure types associated with LGS and has tolerable side effects, the most common being vomiting and somnolence. Dosing modifications based on age, weight, and concomitant AED usage are recommended for patients using rufinamide. Keywords: Lennox–Gastaut syndrome, anticonvulsants, rufinamide

  18. [Features of metabolic syndrome in patients with depressive disorder].

    Science.gov (United States)

    Zeman, M; Jirák, R; Zák, A; Jáchymová, M; Vecka, M; Tvrzická, E; Vávrová, L; Kodydková, J; Stanková, B

    2009-01-01

    Depressive disorder is a serious illness with a high incidence, proxime accessit after anxiety disorders among the psychiatric diseases. It is accompanied by an increased risk of development of type 2 diabetes mellitus, cardiovascular disease, and by increased all-cause mortality. Recently published data have suggested that factors connected with the insulin resistance are at the background of this association. In this pilot study we have investigated parameters of lipid metabolism and glucose homeostasis in consecutively admitted patients suffering from depressive disorder (DD) (group of 42 people), in 57 patients with the metabolic syndrome (MetS) and in a control group of 49 apparently healthy persons (CON). Depressive patients did not differ from the control group by age or body mass index (BMI) value, but they had statistically significantly higher concentrations of serum insulin, C-peptide, glucose, triglycerides (TG), conjugated dienes in LDL particles (CD-LDL), higher value of microalbuminuria and of insulin resistance (HOMA-IR) index. They simultaneously had significantly lower value of the insulin sensitivity (QUICKI) index. In comparison with the MetS group the depressive patients were characterized by significantly lower both systolic and diastolic blood pressure, BMI , serum TG, apolipoprotein B, uric acid, C-peptide and by higher concentrations of apolipoprotein A-I and HDL-cholesterol. On the contrary, we have not found statistically significant differences between the DD and MetS groups in the concentrations of serum insulin, glucose, HOMA and QUICKI indices, in CD-LDL and MAU. In this pilot study, we have found in patients with depressive disorder certain features of metabolic syndrome, especially insulin resistance and oxidative stress.

  19. The effect of hypothyroidism occurring in patients with metabolic syndrome.

    Science.gov (United States)

    Gierach, Marcin; Junik, Roman

    2015-01-01

    Metabolic syndrome involves abdominal obesity, arterial hypertension, type 2 diabetes and lipid disorders manifested as atherogenic dyslipidaemia. Abnormal thyroid function affects the severity of MetS components, since regulating metabolism is one of the most important functions of thyroid hormones. In this study, we present the influence of hypothyroidism on lipid and carbohydrate disorders in patients with MetS. The described study was a prospective, two-centre screening study of 24-month duration. The study participants were 441 patients (350 women, 91 men, aged 28-82) with metabolic syndrome diagnosed according to the 2005 IDF. By comparing the study and the control group, statistically significant differences were observed in the mean triglyceride levels (respectively 161,5 vs. 134,8 mg/dL, p = 0.047), mean fasting glycaemia (respectively 111,8 vs. 126,1 mg/dL, p = 0.044) and TG/HDL ratio (4,74 vs. 3,71, p = 0.043). Hypothyroidism shows a positive correlation with the TG levels and TG/HDL-C ratio and a negative correlation with the mean fasting glycaemia in people with MetS. A significantly higher TG/HDL-C ratio and lower mean insulin sensitivity ratio observed in men with hypothyroidism, indicated higher insulin resistance in men. In view of the above, it may be hypothesized that in patients with both MetS and hypothyroidism, especially of male gender, the risk of death of cardiovascular causes is greater due to the severity of MetS components. Moreover, we suggest that in patients recently diagnosed with MetS, active detection of hypothyroidism should be performed by determining the TSH levels, while patients diagnosed with hypothyroidism (apart from replacement therapy) should be monitored for the possible occurrence of MetS in the future.

  20. Comparison of metabolic syndrome prevalence in patients with schizophrenia and bipolar I disorder.

    Science.gov (United States)

    Nayerifard, Razieh; Bureng, Majid Akbari; Zahiroddin, Alireza; Namjoo, Massood; Rajezi, Sepideh

    2017-11-01

    Research has shown that the metabolic syndrome is more prevalent among patients with schizophrenia or bipolar I disorder. Given the scarcity of research on the disorders, this paper aims to compare the prevalence of the syndrome among the two groups of patients. A total of 120 individuals participated in this cross sectional study: 60 patients with schizophrenia (26 males and 34 females) and 60 patients with bipolar I disorder (32 males and 28 females). The psychological disorders were diagnosed by some experienced psychiatrists according to the DSM-V. Furthermore, metabolic syndrome was diagnosed according to ATP III guidelines. Metabolic syndrome prevalence among schizophrenic and bipolar I patients was 28 and 36 percent, respectively; the disparity in prevalence is not significant. According to the results, compared to their male counterparts, females were more prone significant to metabolic syndrome. Moreover, diastolic blood pressure was significantly higher among bipolar I patients. On the other hand, schizophrenic males were observed to have higher fasting blood sugar levels in comparison to bipolar I males patients. Age, consumption of second generation antipsychotics or antidepressants, and the duration of the disorder were found to be related to metabolic syndrome. This study showed that metabolic syndrome is not more prevalent among bipolar I patients, compared to those with schizophrenia. Also, women are more likely to be affected by the syndrome. A number of factors such as age, consumption of medication, and duration of the disorder are associated with the likelihood of the syndrome. Copyright © 2017. Published by Elsevier Ltd.

  1. Colonic polyps and polyposis syndromes in pediatric patients.

    Science.gov (United States)

    Kay, Marsha; Eng, Katharine; Wyllie, Robert

    2015-10-01

    Gastrointestinal polyps are commonly encountered during childhood and are one of the most common causes of rectal bleeding in this age group. Most polyps are benign and located in the colon, with the most frequent type being juvenile polyps. However, in older pediatric patients, if multiple polyps are present, in patients who have a positive family history, or if polyps are located outside of the colon, either adenomatous polyps or polyps associated with genetic abnormalities are more common. Imaging techniques such as ultrasound and computed tomographic colonoscopy have recently been utilized to identify simple juvenile colonic polyps in children with rectal bleeding in whom there is a high index of suspicion. Colonoscopy with polypectomy is still required for histologic evaluation and resection of the polyp. There have been significant advances in genetic testing and management of hereditary gastrointestinal cancer syndromes with onset in childhood or adolescence that may ultimately reduce long-term morbidity and mortality. In addition to enhanced gastrointestinal and extraintestinal malignancy screening for affected individuals, specific gene mutations within a given condition such as adenomatous polyposis coli may predict clinical course and timing of specific interventions such as colectomy. In other conditions such as phosphatase and tensin homolog hamartoma tumor syndrome, phenotype may not be predicted by genotype. Pediatricians, pediatric gastroenterologists, and adult gastroenterologists caring for children should understand how to differentiate benign polyps in the pediatric age group from those associated with a higher risk of complications including recurrence risk and risk of development of intestinal or extraintestinal malignancy. Recent advances in genetic testing, as well as development of consensus guidelines, are key in the identification, screening, and follow-up of children and adolescents with polyposis syndromes.

  2. Triple A syndrome presenting with myopathy: An Egyptian patient ...

    African Journals Online (AJOL)

    In this paper we report a 13 year old boy with Allgrove syndrome presenting with muscular weakness that was confi rmed by EMG studies. To our knowledge, muscle disease in Allogrove syndrome was not reported before. Keywords: Allgrove syndrome, triple A syndrome, alacrmia, cardiac achalasia, adrenal insufficiency.

  3. Prevalence of Metabolic Syndrome in Patients with Schizophrenia Referred to Farabi Hospital, Kermanshah, Iran.

    Science.gov (United States)

    Shakeri, Jalal; Karimi, Kamyar; Farnia, Vahid; Golshani, Senobar; Alikhani, Mostafa

    2016-07-01

    Our study was conducted to determine the prevalence of metabolic syndrome in patients with schizophrenia. The study population included all patients with schizophrenia who were referred to Farabi Hospital, Kermanshah, Iran, between March 2014 and March 2015. A total of 280 subjects who met the study criteria were selected according to the census sampling method. The prevalence of metabolic syndrome was 30.4% (20.7% in men and 51.5% in women). The prevalence of metabolic syndrome was greater in patients > 40 years than patients aged 20-40 years. There was a significant relationship between marital status and number of hospitalizations with the prevalence of metabolic syndrome. Given the high prevalence of metabolic syndrome in patients with schizophrenia, healthcare professionals should take measures to identify the risk factors and timely treatment of affected patients, thereby improving the patient's quality of life and reducing health costs.

  4. Identifying acute coronary syndrome patients approaching end-of-life.

    Science.gov (United States)

    Fenning, Stephen; Woolcock, Rebecca; Haga, Kristin; Iqbal, Javaid; Fox, Keith A; Murray, Scott A; Denvir, Martin A

    2012-01-01

    Acute coronary syndrome (ACS) is common in patients approaching the end-of-life (EoL), but these patients rarely receive palliative care. We compared the utility of a palliative care prognostic tool (Gold Standards Framework (GSF)) and the Global Registry of Acute Coronary Events (GRACE) score, to help identify patients approaching EoL. 172 unselected consecutive patients with confirmed ACS admitted over an eight-week period were assessed using prognostic tools and followed up for 12 months. GSF criteria identified 40 (23%) patients suitable for EoL care while GRACE identified 32 (19%) patients with ≥ 10% risk of death within 6 months. Patients meeting GSF criteria were older (p = 0.006), had more comorbidities (1.6 ± 0.7 vs. 1.2 ± 0.9, p = 0.007), more frequent hospitalisations before (p = 0.001) and after (0.0001) their index admission, and were more likely to die during follow-up (GSF+ 20% vs GSF- 7%, p = 0.03). GRACE score was predictive of 12-month mortality (C-statistic 0.75) and this was improved by the addition of previous hospital admissions and previous history of stroke (C-statistic 0.88). This study has highlighted a potentially large number of ACS patients eligible for EoL care. GSF or GRACE could be used in the hospital setting to help identify these patients. GSF identifies ACS patients with more comorbidity and at increased risk of hospital readmission.

  5. Identifying acute coronary syndrome patients approaching end-of-life.

    Directory of Open Access Journals (Sweden)

    Stephen Fenning

    Full Text Available BACKGROUND: Acute coronary syndrome (ACS is common in patients approaching the end-of-life (EoL, but these patients rarely receive palliative care. We compared the utility of a palliative care prognostic tool (Gold Standards Framework (GSF and the Global Registry of Acute Coronary Events (GRACE score, to help identify patients approaching EoL. METHODS AND FINDINGS: 172 unselected consecutive patients with confirmed ACS admitted over an eight-week period were assessed using prognostic tools and followed up for 12 months. GSF criteria identified 40 (23% patients suitable for EoL care while GRACE identified 32 (19% patients with ≥ 10% risk of death within 6 months. Patients meeting GSF criteria were older (p = 0.006, had more comorbidities (1.6 ± 0.7 vs. 1.2 ± 0.9, p = 0.007, more frequent hospitalisations before (p = 0.001 and after (0.0001 their index admission, and were more likely to die during follow-up (GSF+ 20% vs GSF- 7%, p = 0.03. GRACE score was predictive of 12-month mortality (C-statistic 0.75 and this was improved by the addition of previous hospital admissions and previous history of stroke (C-statistic 0.88. CONCLUSIONS: This study has highlighted a potentially large number of ACS patients eligible for EoL care. GSF or GRACE could be used in the hospital setting to help identify these patients. GSF identifies ACS patients with more comorbidity and at increased risk of hospital readmission.

  6. Evaluation of salivary function in patients with burning mouth syndrome.

    Science.gov (United States)

    Lee, Y C; Hong, I K; Na, S Y; Eun, Y G

    2015-04-01

    To investigate salivary function in patients with primary burning mouth syndrome (BMS) compared with control and to evaluate salivary hypofunction using salivary gland scintigraphy (SGS). A total of 33 patients with primary BMS and 30 control subjects were enrolled in our study. The severity of the pain and the burning sensation on a 10-cm visual analog scale (VAS) and the Oral Health Impact Profile-14 (OHIP-14) were assessed. Unstimulated and stimulated salivary flow rates (SFRs) were measured. (99m) Tc pertechnetate SGS was used to evaluate salivary gland function. Unstimulated SFR in patients with BMS was significantly lower than that in the control group (0.11 ± 0.15 vs 0.21 ± 0.16 ml min(-1) , P = 0.014). There was no significant difference in stimulated SFR between the two groups. The VAS scores for oral pain and burning sensation, the total OHIP-14 score, and salivary gland function by salivary scintigraphy were not significantly different between BMS patients with normal flow rate and hyposalivation. Patients with primary BMS exhibited a significant decrease in unstimulated SFR compared with control group. In addition, we could not find any difference in salivary gland function between BMS patients with or without hyposalivation. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. [Pharmacological treatment of patients with chronic fatigue syndrome].

    Science.gov (United States)

    Glazachev, O S; Dudnik, Е N; Zagaynaya, E E

    2017-01-01

    To evaluate the efficacy and safety of human placenta extract - laennec infusions in the treatment of patients with confirmed diagnosis of 'Chronic fatigue syndrome' (CFS). The study included 38 patients with CFS, randomized into 2 groups: patients of the experimental group (EG, n=24) were treated with 10 intravenous laennec infusions, 4 ml each, 2 times/week, for 5 weeks. The control group (CG) consisted of 14 patients. Treatment efficacy evaluated by the severity of chronic fatigue ('The degree of chronic fatigue' questionnaire), state anxiety, depression and anger (Spilberger test) and quality of life (SF-36v2), exercise tolerance (cardiopulmonary exercise test with gas analysis), blood parameters were assessed before, after, and 5 weeks of follow-up. The EG patients showed a significant reduction in the index of chronic fatigue, which was accompanied by the significant decrease in state depression, anxiety, improvements in subjective assessment of quality of life, as well as a significant increase in physical performance indices (maximal oxygen consumption, anaerobic threshold, load time to failure, normalization of the lipid 'profile' immediately after course of infusions and in 5 weeks follow-up). No changes in chronic fatigue index and other recorded indicators were identified in CG. Laennec did not cause side effects, was well tolerated by all patients.

  8. Aberrant ocular architecture and function in patients with Klinefelter syndrome.

    Science.gov (United States)

    Brand, Cristin; Zitzmann, Michael; Eter, Nicole; Kliesch, Sabine; Wistuba, Joachim; Alnawaiseh, Maged; Heiduschka, Peter

    2017-10-13

    Klinefelter Syndrome (KS), the most common chromosomal disorder in men (47,XXY), is associated with numerous comorbidities. Based on a number of isolated case reports, we performed the first systematic and comprehensive evaluation of eye health in KS patients with a focus on ocular structure and vascularization. Twenty-one KS patients and 26 male and 38 female controls underwent a variety of non-invasive examinations investigating ocular morphology (examination of retinal thickness, optic nerve head, and cornea) and function (visual field testing and quantification of ocular vessel density by optical coherence tomography angiography). In comparison to healthy controls, KS patients exhibited a smaller foveal avascular zone and a decreased retinal thickness due to a drastically thinner outer nuclear layer. The cornea of KS patients showed a decreased peripheral thickness and volume. In perimetry evaluation, KS patients required brighter stimuli and gave more irregular values. KS patients show an ocular phenotype including morphological and functional features, which is very likely caused by the supernumerary X chromosome. Thus, KS should not be limited to infertility, endocrine dysfunction, neurocognitive and psychosocial comorbidities. Defining an aberrant ocular morphology and function, awareness for possible eye problems should be raised.

  9. Growth and development of adolescent patients with Cushing's syndrome.

    Science.gov (United States)

    Shi, Chen; Lin, Lu; Hui, Pan; Hui-Juan, Zhu; An-Li, Tong; Zhao-Lin, Lu

    2011-02-01

    To elucidate the growth and development of patients with Cushing's syndrome (CS) in adolescence. We analyzed the clinical data of 19 patients aged under 18 with CS. We divided the patients into two groups according to the height at diagnosis. The patients under the 3rd percentile were in the short stature group (n=12), and the others in the non-short stature group (n=7). The intergroup differences in disease course, age of onset, and 24-hour urinary free cortisol were analyzed. The median age at diagnosis was 13 years. The median disease course was 0.9 years. All those patients presented with typical clinical characteristics of CS. Twelve cases (63.2%) were in short stature group. The disease course of the short stature group was found significantly longer than that of the non-short stature group [(2.7∓1.7) years vs. (0.8∓0.6) years, P=0.013], but no significant difference was found in the age of onset (P=0.530) or 24-hour urinary free cortisol (P=0.919) between the two groups. The data suggest that short stature is common in adolescent CS patients. The growth delay may be correlated to the disease course of CS.

  10. Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

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    Xie Ying

    2012-05-01

    Full Text Available Abstract Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful.

  11. Toxic shock and Down syndromes in a dental patient: a case report and review of the literature.

    Science.gov (United States)

    Navazesh, M; Mulligan, R; Sobel, S

    1994-01-01

    A literature review of Toxic Shock Syndrome is presented, including epidemiology, etiology, signs, symptoms and management, and its relationship to infection susceptibility in the Down Syndrome patient. A case of a Down Syndrome patient with Toxic Shock Syndrome is described, and the role of odontogenic infection is discussed.

  12. Surgical Treatment of Chronic Exertional Compartment Syndrome in Pediatric Patients.

    Science.gov (United States)

    Beck, Jennifer J; Tepolt, Frances A; Miller, Patricia E; Micheli, Lyle J; Kocher, Mininder S

    2016-10-01

    Chronic exertional compartment syndrome (CECS) is a cause of leg pain in running athletes and is treated with fasciotomy after failure of nonoperative management. CECS is being seen with increased frequency in younger patients. The demographics and outcomes of fasciotomy for CECS in pediatric patients, including risk factors for treatment failure, have not been described. To describe characteristics of pediatric patients with CECS and determine surgical outcomes of the condition in this population. Case series; Level of evidence, 4. A retrospective review was performed for patients 18 years and younger treated surgically for CECS with compartment release at a single institution from 1995 to 2014. Demographic and condition characteristics, operative procedure, postoperative course, and clinical outcomes were recorded for 286 legs of 155 patients. Compartment pressure testing using the Pedowitz criteria confirmed the diagnosis in all patients. A total of 155 patients were included in the study (average patient age at presentation, 16.4 ± 1.38 years); 136 (88%) were female. All 155 patients presented with leg pain; of these patients, 8 (5%) also had neurologic symptoms, and 131 (85%) presented with bilateral symptoms requiring bilateral compartment release. Symptoms were chronic in nature, with duration over 1 year in 63% of patients. The primary sport was most commonly reported as running (25%), soccer (23%), or field hockey (12%); 50% of patients were multisport athletes. Of 286 legs, 138 (48%) had only anterior and/or lateral compartments released, while 84 (29.4%) had all 4 compartments released. Documented return to sport was seen in 79.5% of patients. Outcomes analysis was performed for 250 of 286 legs. Of these 250 legs, 47 (18.8%) had recurrent CECS requiring reoperation at a median of 1.3 years (interquartile range, 0.8-3.5) after initial compartment release. For each additional month between presentation and release, the odds of recurrence decreased by 12

  13. Dorsal radiocarpal dislocation in a patient with Goldenhar syndrome: case report.

    Science.gov (United States)

    Bernard, Johnathan A; O'Daly, Andres; Laporte, Dawn M

    2013-09-01

    Fracture-dislocations of the carpus are rare, generally occurring after high-energy trauma. Goldenhar syndrome is among a group of genetic abnormalities associated with radial limb defects. We present a case of a dorsal radiocarpal dislocation in a patient with Goldenhar syndrome after a low-energy fall. To our knowledge, there has been no previous report of radiocarpal dislocation in the setting of Goldenhar syndrome. This patient with Goldenhar syndrome had a dorsal radiocarpal dislocation in the setting of an absent scaphoid and dysplastic distal radius. A computed tomography scan, recognized as a useful modality to evaluate the wrist and scaphoid, was used to rule out any other osseous trauma or avulsion fractures. Closed reduction and 6 weeks of immobilization resulted in a successful treatment. The incidence of radiocarpal dislocations in patients with Goldenhar syndrome and the appropriate long-term treatment for patients with Goldenhar syndrome with radiocarpal dislocations require further investigation.

  14. Prevalence of Asperger syndrome among patients of an Early Intervention in Psychosis team.

    Science.gov (United States)

    Davidson, Conor; Greenwood, Nick; Stansfield, Alison; Wright, Stephen

    2014-05-01

    There is a lack of systematic studies into comorbidity of Asperger syndrome and psychosis. To determine the prevalence of Asperger syndrome among patients of an early intervention in psychosis service. This study was a cross-sectional survey consisting of three phases: screening, case note review and diagnostic interviews. All patients on caseload (n = 197) were screened using the Autism Spectrum Disorder in Adults Screening Questionnaire. The case notes of patients screened positive were then reviewed for information relevant to Asperger syndrome. Those suspected of having Asperger syndrome were invited for a diagnostic interview. Thirty patients were screened positive. Three of them already had a diagnosis of Asperger syndrome made by child and adolescent mental health services. After case note review, 13 patients were invited to interview. Four did not take part, so nine were interviewed. At interview, four were diagnosed with Asperger syndrome. In total, seven patients had Asperger syndrome. Thus, the prevalence rate in this population is at least 3.6%. The results suggest that the prevalence of Asperger syndrome in first-episode psychosis is considerably higher than that in the general population. Clinicians working in early intervention teams need to be alert to the possibility of Asperger syndrome when assessing patients. © 2013 Wiley Publishing Asia Pty Ltd.

  15. Metabolic Syndrome and Physical Activity in Hemodialysis Patients

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    derya atik

    2014-06-01

    Full Text Available Purpose: This descriptive study was carried out to reveal the level of physical activity in patients who receive hemodialysis due to chronic kidney failure and to identify its relationship with the prevalence of metabolic syndrome (MetS. Material and method: The study was conducted with 55 patients at the hemodialysis units of Alanya State Hospital and Private Alanya Anadolu Hospital between 10 and 30 June 2013. The study data were collected using the National Cholesterol Education Program, the Adult Treatment Panel III (NCEP-ATP III, a data collection form containing Metabolic Syndrome Diagnosis Criteria, and the International Physical Activity Questionnaire (IPAQ. The data were analyzed using arithmetic mean +/- standard deviation (SD, number and percentage distributions, independent sample t test, crosstabs, One Way Anova, and Pearson and #8217;s Correlation Analysis. Conclusion and suggestions: It was found that 41.8% of the patients were between 50 and 65 years of age, the majority of them were male (58.2%, hemodialysis had been administered to 69.1% of them for at least 36 months, and 50.9% of them met three and more of the MetS criteria. There was no statistically significant relationship between MetS and physical activity levels, but the length of physical activity was longer in those who did not meet the MetS diagnosis criteria (p>0.05. An increase in sedentary time raised the MetS criteria (p<0.05. Conclusion: Nearly 1/2 of the patients were at risk of MetS. Physical activity level being statistically ineffective on MetS can be associated with low physical activity level and longer sedentary time. It can be said that being completely sedentary increases BMI and therefore MetS. The study can be repeated on different samples and the results can be compared. [J Contemp Med 2014; 4(2.000: 69-75

  16. X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report.

    Science.gov (United States)

    Telepova, Alena S; Romanenko, Svetlana A; Lemskaya, Natalya A; Maksimova, Yulia V; Shorina, Asia R; Yudkin, Dmitry V

    2017-01-01

    Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X. Additionally, we showed no telomeric sequences and no XIST sequence in the marker chromosome. This is the first report of these two syndromes accompanied by the presence of a marker chromosome. Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome. CPG137. Registered 03 March 2017.

  17. Shoulder proprioception in patients with subacromial impingement syndrome.

    Science.gov (United States)

    Sahin, Ebru; Dilek, Banu; Baydar, Meltem; Gundogdu, Mehtap; Ergin, Burcu; Manisali, Metin; Akalin, Elif; Gulbahar, Selmin

    2017-01-01

    Recently, proprioception deficits of the rotator cuff and the deltoid muscles have been suggested to play a pivotal role in the subacromial impingement syndrome (SIS). To date, there are no study has been found where the kinesthesia and joint position senses have been evaluated together in SIS. To investigate the shoulder proprioception in patients with SIS. Sixty-one patients with SIS and 30 healthy controls, aging between 25 and 65 years, were included in the study. Main outcome measure was proprioception, assessed with an isokinetic dynamometer. Kinesthesia, active and passive joint repositioning senses were tested at 0° and 10° external rotation. All tests were repeated 4 times and the mean of angular errors were obtained. The mean age was 49.14 ± 10.27 and 48.80 ± 11.09 years in patient group and in control group respectively. No significant difference was found between two groups in terms of age, gender and dominance. When involved and uninvolved shoulders of the patient group were compared, kinesthesia, active and passive joint position senses were significantly impaired in involved shoulders at all angles (P shoulders of the patient group were compared to the control group, kinesthesia, active and passive joint position senses were significantly impaired in involved shoulders in patient group at all angles (P shoulders of the patient group were compared to the control group, kinesthesia at 10° was significantly impaired (P shoulder proprioception was impaired in patients with SIS. This proprioceptive impairment was found not only in involved shoulders but also in uninvolved shoulders in patients with SIS.

  18. Sexual Dysfunction in Patients with Polycystic Ovary Syndrome in Malaysia.

    Science.gov (United States)

    Dashti, Sareh; Latiff, Latiffah A; Hamid, Habibah Abdul; Sani, Suriani Mohamad; Akhtari-Zavare, Mehrnoosh; Abu Bakar, Azrin Shah; Binti Sabri, Nur Amirah Inani; Ismail, Maimunah; Esfehani, Ali Jafarzadeh

    2016-01-01

    Polycystic ovary syndrome (PCOS) is a combination of chronic anovulation, obesity, and hyperandrogenism and can affect sexual function in women of reproductive age. It is also associated with endometrial cancer. Our aim was to evaluate the frequency and predisposing factors of sexual dysfunction in PCOS patients. In this cross-sectional study, 16 married women with a definite diagnosis of PCOS were recruited. Sexual function was assessed in the domains of desire, arousal, lubrication, orgasm, satisfaction and pain using the female sexual function index (FSFI) questionnaire. Patients were also assessed for mental health using the depression, anxiety and stress (DASS-21) questionnaire. Presence of hirsutism was assessed using the Ferriman-Gallwey (FG) scoring system. Demographic data were obtained from patients during in-person interview. Sexual dysfunction was present in 62.5% of patients with the domains of arousal and lubrication particularly affected (93.8% and 87.5%, respectively). Patients with symptoms of depression and anxiety were significantly more likely to suffer sexual dysfunction than those without these symptoms (p=0.04 and p=0.03 respectively). Patients with stress symptoms reported higher orgasm dysfunction than those without (p=0.02). No significant difference in any of the FSFI score domains was observed between patients with and without hirsutism. PCOS patients markedly suffer from sexual dysfunction and therefore it seems appropriate to be screened for intervention. Poor mental health conditions that may be the result of infertility or other complications of PCOS should also be considered as curable causes of sexual dysfunction in these patients.

  19. Cholelithiasis and biliary sludge in Down’s syndrome patients

    Directory of Open Access Journals (Sweden)

    Márcia Cristina Bastos Boëchat

    Full Text Available CONTEXT AND OBJECTIVE: Although studies have demonstrated increased frequency of gallbladder abnormalities among Down’s syndrome (DS patients in some countries, there is only one paper on this subject in the Brazilian literature. The aim of this study was to demonstrate the prevalence, clinical characteristics and evolution of lithiasis and biliary sludge among DS patients in a maternity and children’s hospital in Rio de Janeiro. DESIGN AND SETTING: This was a cross-sectional study followed by a retrospective cohort study on all individuals with an ultrasound diagnosis of gallbladder abnormalities. METHODS: 547 DS patients (53.2% male, 46.8% female attending the Instituto Fernandes Figueira in 2001 underwent abdominal ultrasound examination at ages of between one day and three years (mean: five months. Clinical and ultrasound data were analyzed. RESULTS: In 50 patients (9.1%, the ultrasound demonstrated gallbladder abnormalities (6.9% lithiasis and 2.1% biliary sludge. Spontaneous resolution was observed in 66.7% of the patients with biliary sludge and 28.9% with lithiasis. Cholecystectomy was carried out on 26.3% of the patients with gallstones. CONCLUSION: The results from this study and comparison with the literature suggest that DS patients are at risk of developing lithiasis and biliary sludge and should be monitored throughout the neonatal period, even if there are no known risk factors for gallstone formation. Most frequently, these gallbladder abnormalities occur without symptoms and spontaneously resolve in most non-symptomatic patients. DS patients should be monitored with serial abdominal ultrasound, and cholecystectomy is indicated for symptomatic cases or when cholecystitis is present.

  20. Interrupted aortic arch type B in A patient with cat eye syndrome.

    Science.gov (United States)

    Belangero, Sintia Iole Nogueira; Bellucco, Fernanda Teixeira da Silva; Cernach, Mirlene C S P; Hacker, April M; Emanuel, Beverly S; Melaragno, Maria Isabel

    2009-05-01

    We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an interrupted aortic arch type B is unusual in CES, although it is a frequent heart defect in the 22q11 deletion syndrome.

  1. Refeeding syndrome in a vegan patient with stage IV gastric cancer: a novel case.

    Science.gov (United States)

    Brown, Teresa V; Moss, Rebecca A

    2015-03-01

    The refeeding syndrome encompasses the complex physiologic state that occurs in malnourished patients who receive nutrition after a period of decreased oral intake. The hallmark of the syndrome is hypophosphatemia, though other electrolyte imbalances and severe fluid shifts are commonly involved. Patients with newly diagnosed malignancies and those undergoing treatment for malignancies are at increased risk for developing the refeeding syndrome, however there are few reported cases or other data in the oncology literature regarding this syndrome in cancer patients. ©2015 Frontline Medical Communications.

  2. Impaired driving simulation in patients with Periodic Limb Movement Disorder and patients with Obstructive Sleep Apnea Syndrome

    NARCIS (Netherlands)

    Gieteling, Esther W.; Bakker, Marije S.; Hoekema, Aarnoud; Maurits, Natasha M.; Brouwer, Wiebo H.; van der Hoeven, Johannes H.

    Background: Excessive daytime sleepiness (EDS) is considered to be responsible for increased collision rate and impaired driving simulator performance in Obstructive Sleep Apnea Syndrome (OSAS) patients. Periodic Limb Movement Disorder (PLMD) patients also frequently report EDS and may also have

  3. [Study on the relation between Pi-deficiency pattern and metabolic syndrome in patients with polycystic ovarian syndrome].

    Science.gov (United States)

    Wang, Xing-Juan; Jin, Hua-Liang; Liu, Ying

    2010-11-01

    To evaluate the relation between Pi-deficiency syndrome (PDS) pattern and metabolic syndrome (MS) in patients with polycystic ovarian syndrome (PCOS), for exploring their internal pathologic mechanism. Among the 102 PCOS patients, 22 complicated with MS (PCOS-MS) and 80 not complicated with MS (PCOS-NMS), the Chinese medicine syndrome pattern was differentiated as PDS in 50 patients and non-PDS in 52. The clinical data, in terms of fasting blood glucose (FBG), fasting insulin (FINS), waistline, body weight (BW), stature, blood pressure (BP), etc. was collected and compared and the relation between data was analyzed. Levels of FINS and homeostasis model of assessment for insulin resistence index (HOMA-IR), in PCOS-MS patients were significantly higher than those in PCOS-NMS patients, also higher in patients of PDS pattern than those of non-PDS pattern (P pattern was significantly higher than those in patients of non-PDS pattern (P 0.05). PCOS patients of PDS pattern are the high-risk population of MS, which might be related with the insulin resistance. So, early treatment of PCOS, especially on patients of PDS pattern, is of important significance for preventing the complication, as MS, of the disease.

  4. Medical utilization and cost in patients with overlap syndrome of chronic obstructive pulmonary disease and asthma.

    Science.gov (United States)

    Rhee, Chin Kook; Yoon, Hyoung Kyu; Yoo, Kwang Ha; Kim, Young Sam; Lee, Sei Won; Park, Yong Bum; Lee, Jin Hwa; Kim, Yuri; Kim, Kyungjoo; Kim, Jinhee; Oh, Yeon Mok; Lee, Sang Do

    2014-04-01

    Little information is available regarding medical utilization and cost in patients with overlap syndrome of chronic obstructive pulmonary disease (COPD) and asthma. The purpose of this study is to analyze medical utilization and cost in patients with overlap syndrome and to compare them to COPD patients without asthma. Using the 2009 Korean National Health Insurance (NHI) database, COPD patients were identified. Medical utilization and costs were also analyzed. Of a total of 185,147 patients identified with COPD, 101,004 patients were classified with overlap syndrome of COPD and asthma and 84,143 patients with COPD without asthma. In 2009, the percentages of emergency room visits, admissions, and intensive care unit admissions were 14.6%, 30.5%, and 0.5%, respectively, in the patients with overlap syndrome group and 5.0%, 14.1%, and 0.2%, respectively, in the COPD patients without asthma group (p overlap syndrome and 413 ± 512 and 3,010 ± 5,013, respectively, in the COPD patients without asthma (p overlap syndrome, hospitalization in the last year, low socioeconomic status, and type of hospital use were significant factors affecting medical utilization and cost. In patients with overlap syndrome, both medical utilization and cost were higher than in COPD patients without asthma.

  5. Compulsive habits in restless legs syndrome patients under dopaminergic treatment.

    Science.gov (United States)

    Pourcher, Emmanuelle; Rémillard, Sophie; Cohen, Henri

    2010-03-15

    Since the introduction of levodopa therapy and dopaminergic replacement therapy to abate symptoms of idiopathic Parkinson's disease, repetitive compulsive behaviors have been reported and are now considered to be drug-related response complications. As dopamine (DA) agonists are the licensed treatment in Restless Legs Syndrome (RLS), a survey was conducted to determine the extent to which patients with RLS present compulsive behaviors. The aim of this study was to investigate the relationship between DA agonists and the occurrence of motor or behavioral compulsions, stress, depression, and sleep disturbance in RLS patients. A questionnaire was mailed three times, at four-month intervals over a period of 8 months to all patients of the Quebec Memory and Motor Skills Disorders Clinic diagnosed with RLS. In addition to recording all medication information for RLS treatment, patients were assessed on the International Restless Legs Syndrome Study Group Rating Scale (IRLS), the Beck Depression Inventory-II (BDI-II), the Sleep Scale from the Medical Outcomes Study (MOS) and on a visual analog scale for current level of stress. A section pertaining to hobby, mania, and compulsion was also included. Analyses are based on 97 out of 151 patients (64.2%) with RLS who returned the three questionnaires. Twelve patients (12.4%) on stable DA agonist therapy (average dose 0.52+/-0.59 mg Pramipexole equivalent) developed a new compulsive behavioral repertoire. Eating (3 women, 1 man), buying food or clothes (2 women, 1 man), trichotillomania (1 woman, 1 man), and gambling (1man) were among the compulsions developed under DA treatment. In addition, two women presented new tic-like phenomena. In contrast to the RLS patients without compulsive behaviors (53 treated with DA agonist; 32 untreated), those with compulsive habits reported experiencing more stress, depression and sleep problems. Patients with RLS with mood and stress states may be at greater risk of developing compulsive

  6. Clinical Evaluation of Percutaneous Vertebroplasty in a Patient with Paraplegia and Immobilization Syndrome: A Case Report

    OpenAIRE

    Masala, Salvatore; Calabria, Eros; Nezzo, Marco; De Vivo, Dominique; Neroni, Luca; Simonetti, Giovanni

    2013-01-01

    We will discuss a potential role of percutaneous vertebroplasty (PVP) in the management of a patient with immobilization syndrome due to paraplegia and vertebral osteoporotic fractures. While PVP is commonly used for the treatment of osteoporotic thoracolumbar vertebral compression fractures, its role in vertebral stabilization in patient with immobilization syndrome has not been reported in the literature. A 73-year-old woman affected by immobilization syndrome due to paraplegia and vertebra...

  7. Kinesiophobia, adherence to treatment, pain and quality of life in fibromyalgia syndrome patients

    OpenAIRE

    Lorente, Giovana Davi; Stefani, Lia Fernanda Bocchi De; Martins, Marielza Regina Ismael

    2014-01-01

    BACKGROUND AND OBJECTIVES: Fibromyalgia syndrome is characterized by diffuse and chronic musculoskeletal pain, which is difficult to handle and negatively affects patients' quality of life. This study aimed at measuring fear of movement, adherence to treatment and at evaluating health-related quality of life of fibromyalgia syndrome patients.METHODS: This is a prospective study in convenience sample made up of individuals with fibromyalgia syndrome and treated in a Pain Outpatient Clinic. Too...

  8. Globus Pallidus Interna Deep Brain Stimulation in a Patient with Medically Intractable Meige Syndrome

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    Dae-Woong Bae

    2014-10-01

    Full Text Available Medical therapies in patients with Meige syndrome, including botulinum toxin injection, have been limited because of incomplete response or adverse side effects. We evaluated a patient with Meige syndrome who was successfully treated with deep brain stimulation (DBS in the globus pallidus interna (GPi. This case report and other previous reports suggest that bilateral GPi DBS may be an effective treatment for medically refractory Meige syndrome, without significant adverse effects.

  9. Acute Compartment Syndrome after an Olecranon Fracture in a Patient with Mild Hemophilia B

    OpenAIRE

    Reynolds, John M; Christophersen, Christy; Mulcahey, Mary K

    2017-01-01

    Introduction: Compartment syndrome is a serious condition characterized by compartmental pressures within 20 mmHg of diastolic blood pressure, or clinical signs of pain, paresthesia, pallor, and lack of pulses. Often a surgical intervention is necessary. Increased surveillance for compartment syndrome is important when a patient with a bleeding disorder sustains a traumatic injury. Case Report: We present a case of forearm compartment syndrome in a patient with mild hemophilia B who sustained...

  10. Co-existence of Insulin Dependent Diabetes and Graves’ Disease in a Patient with Down Syndrome

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    Ayşe Kubat Üzüm

    2010-05-01

    Full Text Available Down’s syndrome is the most common genetic disorder. It is well established that there is an increased risk of autoimmune endocrine diseases in Down’s syndrome. Defect of a gene located on chromosome 21q22.3 causes autoimmune polyglandular syndrome type 1 and this might be related with susceptibility to autoimmune diseases in patients with Down’s syndrome. We reported a 20-year-old male with Down’s syndrome who was brought to emergency room by his family and had a diagnose of diabetic ketoacidosis and Graves’ disease. Underlying mechanisms in co-existing of autoimmune diseases in Down’s syndrome, management of such patients and the importance of making the family to be aware of the symptoms of possible subsequent components of the autoimmune polyglandular syndrome are discussed. Turk Jem 2010; 14: 17-9

  11. Pituitary tumors in patients with MEN1 syndrome

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    Luis V. Syro

    2012-01-01

    Full Text Available We briefly review the characteristics of pituitary tumors associated with multiple endocrine neoplasia type 1. Multiple endocrine neoplasia type 1 is an autosomal-dominant disorder most commonly characterized by tumors of the pituitary, parathyroid, endocrine-gastrointestinal tract, and pancreas. A MEDLINE search for all available publications regarding multiple endocrine neoplasia type 1 and pituitary adenomas was undertaken. The prevalence of pituitary tumors in multiple endocrine neoplasia type 1 may vary from 10% to 60% depending on the studied series, and such tumors may occur as the first clinical manifestation of multiple endocrine neoplasia type 1 in 25% of sporadic and 10% of familial cases. Patients were younger and the time between initial and subsequent multiple endocrine neoplasia type 1 endocrine lesions was significantly longer when pituitary disease was the initial manifestation of multiple endocrine neoplasia type 1. Tumors were larger and more invasive and clinical manifestations related to the size of the pituitary adenoma were significantly more frequent in patients with multiple endocrine neoplasia type 1 than in subjects with non-multiple endocrine neoplasia type 1. Normalization of pituitary hypersecretion was much less frequent in patients with multiple endocrine neoplasia type 1 than in subjects with non-multiple endocrine neoplasia type 1. Pituitary tumors in patients with multiple endocrine neoplasia type 1 syndrome tend to be larger, invasive and more symptomatic, and they tend to occur in younger patients when they are the initial presentation of multiple endocrine neoplasia type 1.

  12. Reversed Robin Hood syndrome in acute ischemic stroke patients.

    Science.gov (United States)

    Alexandrov, Andrei V; Sharma, Vijay K; Lao, Annabelle Y; Tsivgoulis, Georgios; Malkoff, Marc D; Alexandrov, Anne W

    2007-11-01

    Recurrent hemodynamic and neurological changes with persisting arterial occlusions may be attributable to cerebral blood flow steal from ischemic to nonaffected brain. Transcranial Doppler monitoring with voluntary breath-holding and serial NIH Stroke Scale (NIHSS) scores were obtained in patients with acute middle cerebral artery or internal carotid artery occlusions. The steal phenomenon was detected as transient, spontaneous, or vasodilatory stimuli-induced velocity reductions in affected arteries at the time of velocity increase in normal vessels. The steal magnitude (%) was calculated as [(MFVm-MFVb)/MFVb]x100, where m=minimum and b=baseline mean flow velocities (MFV) during the 15- to 30-second period of a total 30 second of breath-holding. Six patients had steal phenomenon on transcranial Doppler (53 to 73 years, NIHSS 4 to 15 points). Steal magnitude ranged from -15.0% to -43.2%. All patients also had recurrent neurological worsening (>2 points increase in NIHSS scores) at stable blood pressure. In 3 of 5 patients receiving noninvasive ventilatory correction for snoring/sleep apnea, no further velocity or NIHSS score changes were noted. Our descriptive study suggests possibility to detect and quantify the cerebral steal phenomenon in real-time. If the steal is confirmed as the cause of neurological worsening, reversed Robin Hood syndrome may identify a target group for testing blood pressure augmentation and noninvasive ventilatory correction in stroke patients.

  13. Surgical effects in patients with Duane retraction syndrome

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    Shui-Lian Zhou

    2017-03-01

    Full Text Available AIM: To investigate the clinical characteristics and surgical effects in patients with Duane retraction syndrome(DRS.METHODS: Totally 13 patients with DRS during June 2011 to December 2015 were analyzed retrospectively. The data including clinical types and manifestations, surgical methods and outcomes were reviewed and analyzed. RESULTS: There were 11 male cases and 2 female cases who all had no ocular and systemic anomalies. The left eye was involved in 9 cases, the right eye was involved in 3 cases and 1 case involved in both eyes. Six cases were type Ⅰ,1 case was typeⅡand 6 cases were type Ⅲ. Eleven cases had abnormal head posture(AHP, 9 cases had the up- or down-shoot phenomenon. The surgical treatment was designed according to subtypes and clinical features which included medial rectus recession, lateral rectus recession, recession of both horizontal rectus muscles and lateral rectus recession combined with Y splitting. After surgery, horizontal deviation was less than ±10△ in all patients, and AHP disappeared in 4 cases and improved in 7 cases. The up- or down-shoot and global retraction disappeared in 5 cases and improved in 4 cases. Simultaneously, the restriction of ocular motility was improved in all patients. CONCLUSION: The clinical features of DRS are variant in different types. Detailed examination before surgery and reasonable surgical design are important in treatment of patients with DRS.

  14. Localized cortical thinning in patients with obstructive sleep apnea syndrome.

    Science.gov (United States)

    Joo, Eun Yeon; Jeon, Seun; Kim, Sung Tae; Lee, Jong-Min; Hong, Seung Bong

    2013-08-01

    To investigate differences in cortical thickness in patients with obstructive sleep apnea (OSA) syndrome and healthy controls. Cortical thickness was measured using a three-dimensional surface-based method that enabled more accurate measurement in deep sulci and localized regional mapping. University hospital. Thirty-eight male patients with severe OSA (mean apnea-hypopnea index > 30/h) and 36 age-matched male healthy controls were enrolled. Cortical thickness was obtained at 81,924 vertices across the entire brain by reconstructing inner and outer cortical surfaces using an automated anatomical pipeline. Group difference in cortical thickness and correlation between patients' data and thickness were analyzed by a general linear model. Localized cortical thinning in patients was found in the orbitorectal gyri, dorsolateral/ventromedial prefrontal regions, pericentral gyri, anterior cingulate, insula, inferior parietal lobule, uncus, and basolateral temporal regions at corrected P memory tests compared to healthy controls. Higher number of respiratory arousals was related to cortical thinning of the anterior cingulate and inferior parietal lobule. A significant correlation was observed between the longer apnea maximum duration and the cortical thinning of the dorsolateral prefrontal regions, pericentral gyri, and insula. Retention scores in visual memory tests were associated with cortical thickness of parahippocampal gyrus and uncus. Brain regions with cortical thinning may provide elucidations for prefrontal cognitive dysfunction, upper airway sensorimotor dysregulation, and cardiovascular disturbances in OSA patients, that experience sleep disruption including sleep fragmentation and oxygen desaturation.

  15. Return to work after an acute coronary syndrome: patients' perspective.

    Science.gov (United States)

    Slebus, Frans G; Jorstad, Harald T; Peters, Ron Jg; Kuijer, P Paul Fm; Willems, J Han Hbm; Sluiter, Judith K; Frings-Dresen, Monique Hw

    2012-06-01

    To describe the time perspective of return to work and the factors that facilitate and hinder return to work in a group of survivors of acute coronary syndrome (ACS). Retrospective semi-structured telephone survey 2 to 3 years after hospitalization with 84 employed Dutch ACS-patients from one academic medical hospital. Fifty-eight percent of patients returned to work within 3 months, whereas at least 88% returned to work once within 2 years. Two years after hospitalization, 12% of ACS patients had not returned to work at all, and 24% were working, but not at pre-ACS levels. For all ACS-patients, the most mentioned categories of facilitating factors to return to work were having no complaints and not having signs or symptoms of heart disease. Physical incapacity, co-morbidity, and mental incapacity were the top 3 categories of hindering factors against returning to work. Within 2 years, 36% of the patients had not returned to work at their pre-ACS levels. Disease factors, functional capacity, environmental factors, and personal factors were listed as affecting subjects' work ability level.

  16. Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome

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    Sevil Toka

    2012-09-01

    Full Text Available Objective: Monnose-Binding lectin (MBL appears to play an important role in the immune system. The genetic polymorphisms in the MBL2 gene can result in a reduction of serum levels, leading to a predisposition to recurrent infection. The aim of this study is to investigate the influence of a polymorphism in codon 54 of the MBL2 gene on the susceptibility to Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome (EM, SJS and SJS/TEN overlap syndrome. Material and Methods: Our study included 64 patients who were clinically and/or histopathologically diagnosed with EM, SJS, and SJS/TEN overlap syndrome and 66 healthy control subjects who were genotyped for the MBL2 gene codon 54 polymorphism using the PCR-RFLP method. For all statistical analyses, the level of significance was set at p<0.05. Results: The prevalence of the B allele was 18% in the EM, SJS and SJS/TEN patient groups and 13% in the control group. No significant differences in allele frequencies of any polymorphism were observed between the patient and control groups, although the B allele was more frequent in the patient groups (p=0.328.Conclusion: Our results provide no evidence of a relationship between MBL2 gene codon 54 polymorphism and the susceptibility to EM, SJS and SJS/TEN overlap syndrome. However, these findings should be confirmed in studies with a larger sample size.

  17. Tubulointerstitial nephritis and Fanconi syndrome in a patient with primary Sjögren's syndrome accompanied by antimitochondrial antibodies: A case report and review of the literature.

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    Saeki, Takako; Nakajima, Akihiro; Ito, Tomoyuki; Takata, Takuma; Imai, Naofumi; Yoshita, Kazuhiro; Kabasawa, Hideyuki; Yamazaki, Hajime; Narita, Ichiei

    2016-05-04

    We describe a 53-year-old woman with primary Sjögren's syndrome and tubulointerstitial nephritis showing distal renal tubular acidosis and Fanconi syndrome. The patient showed high serum IgM levels and positivity for antimitochondrial antibodies, although her liver function was in normal range. According to our literature review, 75% of patients with tubulointerstitial nephritis who were positive for antimitochondrial antibodies showed Fanconi syndrome, suggesting that these antibodies may directly be associated with the pathophysiology of Fanconi syndrome.

  18. [Valvular heart disease in patients with anti-phospholipid syndrome].

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    Muñoz-Rodríguez, F J; Reverter Calatayud, J C; Font Franco, J; Espinosa Garriga, G; Tàssies Penella, D; Ingelmo Morin, M

    2002-10-01

    Anti-phospholipid antibodies (APA) may involve heart and valvular heart disease seems to be the most common clinical manifestation. To study the prevalence and characteristics of valvular heart disease in a large patient population with anti-phospholipid syndrome (APS) and also to analyze the clinical and immunological profile of patients with valvular involvement compared with those without involvement. Patients and methods. Retrospective analysis of 113 patients diagnosed of APS. Eighty-one percent were females and the mean age was 39 years (SD:14). Sixty-two percent of patients were diagnosed of primary APS (70 patients) and the remaining 38% (43 patients) corresponded to patients with APS associated with systemic lupus erythematosus (SLE). The median follow-up of patients was 55 months (range: 7-144 months). The cardiologic assessment was performed by means of transthoracic echocardiogram. The study of anti-lupus anticoagulant (AL) was performed by means of coagulometric assays and measurement of anticardiolipin antibodies (aCL), anti-beta2 glycoprotein I (abeta2-PGI) and anti-prothrombin (aPT) by ELISA. The prevalence of valvular heart disease was 19%. The mitral valve was mostly involved (91%) and the most common structural abnormality corresponded to mitral insufficiency. Valvular replacement was required in 24% of patients. In the subgroup of patients with valvular heart disease, a significantly higher prevalence was observed in the following parameters: total thrombosis (71% versus 49%; p = 0.05), arterial thrombosis (57% versus 23%; p = 0.002), stroke (38% versus 13%; p = 0.01), trombocitopenia (71% versus 45%; p = 0.02), hemolytic anemia (29% versus 9%; p = 0.02), and livedo reticularis (48% versus 3%; p < 0.0001). As for immunological differences, only a higher prevalence of LA was found (81% versus 59%; p= 0.04) and abeta2-GPI (IgG isotype) (43% versus 22%; p = 0.05) in patients with valvular heart disease. Valvular heart disease is more frequent in pa-tients

  19. Patient safety and nursing: interface with stress and Burnout Syndrome.

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    Rodrigues, Cláudia Cristiane Filgueira Martins; Santos, Viviane Euzébia Pereira; Sousa, Paulo

    2017-01-01

    To analyze studies on stress, Burnout Syndrome, and patient safety in the scope of nursing care in the hospital environment. This was an integrative literature review. Data collection was performed in February 2016 in the following databases: Medical Literature Analysis and Retrieval System Online - PubMed/MEDLINE, Latin American and Caribbean Literature in Health Sciences - LILACS. Ten scientific productions were selected, which listed that factors contributing to stress and Burnout Syndrome of nursing professionals are the work environment as a source of stress, and excessive workload as a source of failures. The analysis found that the stress and Burnout Syndrome experienced by these professionals lead to greater vulnerability and development of unsafe care, and factors such as lack of organizational support can contribute to prevent these failures. Analisar estudos que versam sobre o estresse e Síndrome de Burnout, bem como a segurança do paciente no âmbito da assistência de enfermagem no ambiente hospitalar. Tratou-se de uma revisão integrativa de literatura. O levantamento dos dados foi efetuado nas bases de dados Medical Literature Analysis and Retrieval System Online - PubMed / MEDLINE, Literatura Latino-Americana e do Caribe em Ciências da Saúde -LILACS em fevereiro de 2016. Foram selecionadas10 produções científicas que apontaram que os fatores que contribuem para o estresse e a Síndrome de Burnout dos profissionais de enfermagem são o ambiente de trabalho como fonte de estresse e a carga de trabalho excessiva como geradora de falhas. A análise apontou que o estresse e a Síndrome de Burnout vivenciada por esses profissionais acarretam maior vulnerabilidade ao desenvolvimento de uma assistência insegura e que fatores como a falta de apoio organizacional podem contribuir para dirimir essas falhas.

  20. Quality of life in patients with postural tachycardia syndrome.

    Science.gov (United States)

    Benrud-Larson, Lisa M; Dewar, Melanie S; Sandroni, Paola; Rummans, Teresa A; Haythornthwaite, Jennifer A; Low, Phillip A

    2002-06-01

    To quantify quality of life and identify demographic and clinical correlates of functioning in a well-characterized sample of patients with postural tachycardia syndrome (POTS). Prospective patients were those seen at the Mayo Clinic Autonomic Disorders Laboratory from September 2000 to June 2001. Neurologists made diagnoses of POTS according to established criteria. Patients completed a questionnaire packet that included measures of quality of life (36-Item Short-Form Health Survey [SF-36]) and symptom severity (Autonomic Symptom Profile). Additional clinical information was abstracted from medical records. Ninety-four patients (89% female; mean age, 34.2 years) were enrolled in the study. Patients with POTS reported impairment across multiple domains on the SF-36. Physical functioning, role functioning, bodily pain, general health, vitality, and social functioning were all significantly impaired compared with a healthy population (P<.01 for all) and similar to that reported by patients with other chronic, disabling conditions. Hierarchical regression analyses revealed that symptom severity (beta = -.36, P<.001) and disability status (beta = -36, P<.001) were independent predictors of SF-36 physical component scores, with the full model accounting for 54% of the variance (P<.001). None of the variables examined accounted for a significant amount of the variance in SF-36 mental component scores. Patients with POTS experience clear limitations across multiple domains of quality of life, including physical, social, and role functioning. Treatment should address the multiple and varied impairments experienced by these patients and may require a multidisciplinary approach. Future research must further delineate factors, both disease related and psychosocial, that predict functioning and adjustment in this population.