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Sample records for artery syndrome variant

  1. Coeliac artery compression syndrome

    OpenAIRE

    OKTAY, Özgür; MEMİŞ, Ahmet; Parildar, Mustafa; Oran, İsmail

    2003-01-01

    Celiac artery compression syndrome, also called median arcuate ligament compression syndrome, causes gastrointestinal ischemia secondary to compression of the proximal portion of the celiac artery just beyond its origin by the median arcuate ligament of the diaphragm. This syndrome is frequently demonstrated on aortography performed in patients without complaints of intestinal angina. Isolated stenosis or even occlusion of the celiac artery is always compensated for by collateral circul...

  2. Celiac Artery Compression Syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Muqeetadnan

    2013-01-01

    Full Text Available Celiac artery compression syndrome is a rare disorder characterized by episodic abdominal pain and weight loss. It is the result of external compression of celiac artery by the median arcuate ligament. We present a case of celiac artery compression syndrome in a 57-year-old male with severe postprandial abdominal pain and 30-pound weight loss. The patient eventually responded well to surgical division of the median arcuate ligament by laparoscopy.

  3. Popliteal artery entrapment syndrome.

    LENUS (Irish Health Repository)

    O'Leary, D P

    2010-01-01

    Popliteal artery entrapment syndrome is a rare abnormality of the anatomical relationship between the popliteal artery and adjacent muscles or fibrous bands in the popliteal fossa. The following is a case report of a 19 year old female, in whom popliteal artery entrapment syndrome was diagnosed, and successfully treated surgically. A review of literature is also presented and provides details on how PAES is classified, diagnosed both clinically and radiologically, and treated surgically.

  4. A rare variant of common arterial trunk.

    OpenAIRE

    Rubay, J E; Macartney, F J; Anderson, R H

    1987-01-01

    A 13 day old baby was admitted to hospital with multiple abnormalities, increasing cyanosis, and cardiac failure. Cardiac catheterisation was performed on the day of admission and he died shortly after the procedure. A rare variant of common arterial trunk, in which the pulmonary arteries arose directly from the underside of the aortic arch, was found at necropsy.

  5. Popliteal artery entrapment syndrome.

    Science.gov (United States)

    Klooster, N J; Kitslaar, P; Janevski, B K

    1988-06-01

    Two patients with unilateral popliteal artery entrapment syndrome (PAES) are reported. The importance of diligence in angiographic diagnosis and recognition of the so-called "functional" PAES group as a separate entity are stressed. It is inferred from our material that a surgical approach for PAES is to be advocated since surgical release of the entrapment can lead to complete resolution of symptoms regardless of aetiology. PMID:2837797

  6. Popliteal artery entrapment syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Klooster, N.J.J.; Janevski, B.K.; Kitslaar, P.

    1988-06-01

    Two patients with unilateral popliteal artery entrapment syndrome (PAES) are reported. The importance of diligence in angiographic diagnosis and recognition of the so-called 'functional' PAES group as a separate entity are stressed. It is inferred from our material that a surgical approach for PAES is to be advocated since surgical release of the entrapment can lead to complete resolution of symptoms regardless of aetiology.

  7. Popliteal artery entrapment syndrome

    International Nuclear Information System (INIS)

    Two patients with unilateral popliteal artery entrapment syndrome (PAES) are reported. The importance of diligence in angiographic diagnosis and recognition of the so-called 'functional' PAES group as a separate entity are stressed. It is inferred from our material that a surgical approach for PAES is to be advocated since surgical release of the entrapment can lead to complete resolution of symptoms regardless of aetiology. (orig.)

  8. Digital subtraction angiography of a persistent trigeminal artery variant.

    Science.gov (United States)

    Temizöz, Osman; Genchellac, Hakan; Unlü, Ercüment; Cağli, Bekir; Ozdemir, Hüseyin; Demir, M Kemal

    2010-09-01

    Persistent trigeminal artery variants are described as cerebellar arteries that directly originate from the precavernous segment of the internal carotid artery. This has been observed in 0.18% of cerebral catheter angiograms. On the other hand, a persistent trigeminal artery variant feeding both the anterior inferior cerebellar artery and the posterior inferior cerebellar artery territory is very rare. We present this uncommon anomalous artery along with digital subtraction angiography findings and discuss its clinical significance in light of the literature. PMID:19821254

  9. The right hepatic artery syndrome

    Institute of Scientific and Technical Information of China (English)

    Kazumi Miyashita; Katsuya Shiraki; Takeshi Ito; Hiroki Taoka; Takeshi Nakano

    2005-01-01

    Various benign and malignant conditions could cause biliary obstruction. Compression of extrahepatic bile duct (EBD) by right hepatic artery was reported as a right hepatic artery syndrome but all cases were compressed EBD from stomach side. Our case compressed from dorsum was not yet reported, so it was thought to be a very rare case. We present here the first case of bile duct obstruction due to the compression of EBD from dorsum by right hepatic artery.

  10. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  11. Internal carotid-cerebellar artery anastomosis. So-called persistent trigeminal artery variant

    Energy Technology Data Exchange (ETDEWEB)

    Tanohata, Kazunori; Maehara, Tadayuki; Noda, Masanobu; Katoh, Hiromi

    1987-09-01

    Five cases of internal carotid-cerebellar artery anastomosis are presented. These anomalous vessels are identical to the so-called persistent trigeminal artery variant (PTAV). In our cases, two superior cerebellar arteries (SCAs), two anterior inferior cerebellar arteries (AICAs) and one posterior inferior cerebellar artery (PICA) arose from the precavernous segment of the internal carotid artery. We discuss the embryolgical and neuroradiological aspects of this anomaly.

  12. HIGH BIFURCATION OF THE BRACHIAL ARTERY - A COMMON VARIANT

    Directory of Open Access Journals (Sweden)

    Sesi

    2015-10-01

    Full Text Available 28 cadavers were dissected for variations in the bifurcation of brachial artery bilaterally {n=56} at the department of anatomy, Rangaraya Medical College, Kakinada, A.P. from 2010 to 2015 . Found variations during routine dissections for first year MBBS students. The findings have thrown light on the common as well as rare variants in the anatomy of brachial artery bifurcation and the course of radial and ulnar arteries in current study

  13. Persistent trigeminal artery variants detected by MR angiography

    Energy Technology Data Exchange (ETDEWEB)

    Uchino, A.; Kato, A.; Takase, Y.; Kudo, S. [Dept. of Radiology, Saga Medical School (Japan)

    2000-11-01

    Persistent trigeminal artery (PTA) variants are cerebellar arteries that originate directly from the precavernous portion of the internal carotid artery (ICA). The goal of our study was to determine the incidence and MR angiographic features of PTA variants. Between April 1996 and September 1999, 523 cranial MR angiographies were performed at our institution. Most of the patients examined had or were suspected of having cerebrovascular disease. We retrospectively reviewed these 523 MR angiograms. A 1.5-T scanner was used in all studies, and maximum intensity projection (MIP) images obtained using the three-dimensional time-of-flight (3D TOF) technique were displayed stereoscopically. Four PTA variants were detected on MR angiograms, at a rate of 0.76 %. At least three of the four PTA variants were anterior inferior cerebellar arteries (AICAs), small tortuous arteries arising from the precavernous portions of the ICAs and taking a posterior course. Although the clinical significance is not great, we found a relatively high incidence of PTA variants on MR angiograms. We stress that knowledge and recognition of these anomalous cerebellar arteries are useful and important in the interpretation of cranial MR angiograms. (orig.)

  14. Branch retinal artery occlusion in Susac's syndrome

    Directory of Open Access Journals (Sweden)

    Ricardo Evangelista Marrocos de Aragão

    2015-02-01

    Full Text Available Susac's syndrome is a rare disease attribuited to a microangiopathy involving the arterioles of the cochlea, retina and brain. Encefalopathy, hearing loss, and visual deficits are the hallmarks of the disease. Visual loss is due to multiple, recurrent branch arterial retinal occlusions. We report a case of a 20-year-old women with Susac syndrome presented with peripheral vestibular syndrome, hearing loss, ataxia, vertigo, and vision loss due occlusion of the retinal branch artery.

  15. 'Variant' angina: Evidence for small vessel coronary artery spasm

    International Nuclear Information System (INIS)

    A unique case of 'variant' angina pectoris has been observed in a patient with normal coronary arteries and typical chest pain appearing spontaneously at rest, and repeatedly provoked by ergonovine maleate (0.1 mg iv) associated with large transmural perfusion defects on 201TI-imaging (after ergonovine) and a marked increase in T wave voltage despite no demonstrable spasm of a major coronary artery after the same doses of ergonovine. While saline solution could not provoke chest pain and treatment with a beta-blocking agent increased the frequency of ischemic attacks, a calcium antangonist therapy reduced and eventually eliminated the attacks. Thus, this case provides evidence for yet another aspect of a 'variant' form of angina pectoris: small vessel coronary artery spasm. (orig.)

  16. Space phobia: syndrome or agoraphobic variant?

    Science.gov (United States)

    Marks, I; Bebbington, P

    1976-08-01

    Four elderly women had intense fears of falling when there was no visible support at hand or on seeing space cues while driving. Two patients had cervical spondylosis. The mean age at onset of the fear was 54--thirty years later than that for agoraphobia. Fear of public places and of heights was not prominent, nor was depersonalisation or depression. These "space phobias" might be a hitherto unrecognised syndrome or an unusual variant of agoraphobia. The visuospatial reflexes involved might illuminate the pathogenesis of certain fears. PMID:947417

  17. Possible new variant of Nijmegen breakage syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Der Kaloustian, V.M.; Booth, A.; Elliott, A.M. [Montreal Children`s Hospital and McGill Univ., Montreal (Canada)] [and others

    1996-10-02

    We report on a child with microcephaly, small facial and body size, and immune deficiency. The phenotype is consistent with Nijmegen breakage syndrome (NBS), with additional clinical manifestations and laboratory findings not reported heretofore. Most investigations, including the results of radiation-resistant DNA synthesis, concurred with the diagnosis of NBS. Cytogenetic analysis documented abnormalities in virtually all cells examined. Along with the high frequency of breaks and rearrangements of chromosomes 7 and 14, we found breakage and monosomies involving numerous other chromosomes. Because of some variation in the clinical presentation and some unusual cytogenetic findings, we suggest that our patient may represent a new variant of Nijmegen breakage syndrome. 34 refs., 3 figs., 7 tabs.

  18. Goldenhar Syndrome Associated with Extensive Arterial Malformations

    Directory of Open Access Journals (Sweden)

    Renee Frances Modica

    2015-01-01

    Full Text Available Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae. Other findings include cardiac and vascular abnormalities. Though these associations are known, the specific anomalies are not well defined. We present a 7-month-old infant with intermittent respiratory distress that did not improve with respiratory interventions. Echocardiogram suggested a double aortic arch. Cardiac CT angiogram confirmed a right arch and aberrant, stenotic left subclavian artery, dilation of the main pulmonary artery, and agenesis of the left thyroid lobe. Repeat echocardiograms were concerning for severely dilated coronary arteries. Given dilation, a rheumatologic workup ensued, only identifying few weakly positive autoantibodies. Further imaging demonstrated narrowing of the aorta below the renal arteries and extending into the common iliac arteries and proximal femoral arteries. Given a physical exam devoid of rheumatologic findings, only weakly positive autoantibodies, normal inflammatory markers, and presence of the coronary artery dilation, the peripheral artery narrowings were not thought to be vasculitic. This case illustrates the need to identify definitive anomalies related to Goldenhar Syndrome. Although this infant’s presentation is rare, recognition of specific vascular findings will help differentiate Goldenhar Syndrome from other disease processes.

  19. The persistent trigeminal artery: development, imaging anatomy, variants, and associated vascular pathologies.

    Science.gov (United States)

    Meckel, Stephan; Spittau, Bjoern; McAuliffe, William

    2013-01-01

    The persistent trigeminal artery (PTA) is the most common and most cephalad-located embryological anastomosis between the developing carotid artery and vertebrobasilar system to persist into adulthood. As such, it is frequently reported as an incidental finding in computed tomography angiography and magnetic resonance angiography studies. Here, we review the embryology, anatomy, and angiographic imaging findings, including important variants of this commonly encountered cerebrovascular anomaly (reported incidence of PTA/PTA variants ranges from 0.1% to 0.76%). Further, the aim is to present the range of associated arterial anomalies or syndromes, as well as pathologies that are associated with a PTA: aneurysms, trigeminal cavernous fistulas, and trigeminal nerve compression. Besides summarizing the risks and clinical presentation of such pathologies, their management is discussed with endovascular strategies mostly being the primary choice for aneurysms and trigeminal cavernous fistulas. Symptomatic trigeminal nerve compression can be treated with microvascular decompression surgery. As an illustrative example, a case of a trigeminal cavernous fistula on a PTA variant is included, mainly to emphasize the importance of understanding the variant anatomy for treatment planning in such pathologies. Finally, recommendations on how to manage patients with PTA-associated vascular pathologies are advanced. PMID:22170080

  20. Variant of Rett syndrome and CDKL5 gene

    DEFF Research Database (Denmark)

    Pini, Giorgio; Bigoni, Stefania; Engerström, Ingegerd Witt;

    2012-01-01

    UNLABELLED: Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. AIMS: In recent years more than 60 patients with mutations in the CDKL5 gene have...... the general Rett population, suggesting a specific behavioral and cardiorespiratory phenotype of the RTT the Hanefeld variant....

  1. Superior mesenteric artery syndrome causing growth retardation

    Directory of Open Access Journals (Sweden)

    Halil İbrahim Taşcı

    2013-03-01

    Full Text Available Superior mesenteric artery syndrome is a rare and lifethreateningclinical condition caused by the compressionof the third portion of the duodenum between the aortaand the superior mesenteric artery’s proximal part. Thiscompression may lead to chronic intermittent, acute totalor partial obstruction. Sudden weight-loss and the relateddecrease in the fat tissue are considered to be the etiologicalreason of acute stenosis. Weight-loss accompaniedby nausea, vomiting, anorexia, epigastric pain, andbloating are the leading complaints. Barium radiographs,computerized tomography, conventional angiography,tomographic and magnetic resonance angiography areused in the diagnosis. There are medical and surgical approachesto treatment. We hereby present the case ofa patient with superior mesenteric artery syndrome withdelayed diagnosis.Key words: superior mesenteric artery syndrome, nausea-vomiting, anorexia

  2. Bilateral persistent trigeminal artery variants diagnosed by MR angiography.

    Science.gov (United States)

    Uchino, Akira

    2011-12-01

    A persistent trigeminal artery (PTA) is the most common anastomosis between the carotid and vertebrobasilar system. A PTA variant (PTAV) is a rare anomaly in which the cerebellar artery arises from the internal carotid artery (ICA) without connection with the basilar artery (BA). I present what I believe is the first report of bilateral PTAVs diagnosed using magnetic resonance (MR) angiography and briefly discuss the embryology of this rare anomaly. An 81-year-old woman with small infarctions underwent cerebral MR imaging and MR angiography with a 1.5-tesla imager for the evaluation of brain lesions. An MR angiography was obtained using the standard noncontrast three-dimensional time-of-flight technique. The MR angiographic demonstration of bilateral anterior inferior cerebellar arteries arising from the precavernous segment of the ICA without anastomosis to the BA indicated bilateral PTAVs. This is the first report of bilateral PTAVs diagnosed by MR angiography. The literature review indicates that an estimated prevalence of bilateral PTAVs is about 0.0012%. PMID:21544587

  3. [VARIANT ANATOMY OF SPLENIC LIGAMENTS AND ARTERIES PASSING THROUGH THEM].

    Science.gov (United States)

    Gaivoronskiy, I V; Kotiv, B N; Alekseyev, V S; Nichiporuk, G I

    2015-01-01

    The research was performed on 15 non embalmed bodies and 32 abdominal complexes of adult individuals. The comparative study of variant anatomy of splenic ligaments and architectonics of arteries passing through them was carried out to substantiate the mobilization of splenopancreatic complex. Anatomical and angiographic restudied were carried out using preparation, morphometry, injection of gastric, pancreatic and splenic vascular bed with red lead suspension. It was established that the form and sizes of splenic ligaments and their interrelation with the branches of the splenic artery were variable. The minimal and maximal sizes of gastrolienal, phrenicosplenic and splenocolic ligaments differed 2-3 times. In most cases, spleen was fixed in abdominal cavity by many short ligaments. It was shown that architectonics and topography of main branches of spleen artery were determined by morphometric characteristics of the spleen proper and its ligaments. The knowledge of splenic ligament variant anatomy allows a new perspective to approach to substantiate different methods of the mobilization of spleno-pancreatic complex during surgical operations on organs of the upper part of the peritoneal cavity and organ-preserving surgery of the spleen. PMID:26234038

  4. Renal artery embolization in severe nephrotic syndrome.

    Science.gov (United States)

    Solak, Yalcin; Koc, Osman; Ucar, Ramazan; Ozbek, Orhan; Ergenc, Hasan; Gaipov, Abduzhappar; Turk, Suleyman

    2016-07-01

    Introduction Severe nephrotic syndrome is associated with increased morbidity and mortality. Renal artery embolization (RAE) has been used in a number of renal diseases such as renal tumors, arteriovenous fistulas etc. However, data regarding benefits of RAE in patients with symptomatic severe proteinuria is limited. We decided to evaluate role of RAE in the setting of severe symptomatic nephrotic syndrome. Methods Eight patients who had undergone transcatheter renal artery embolization with polyvinyl alcohol (PVA) were included. Clinico-demographic characteristics as well as baseline laboratory data including level of proteinuria, serum albumin, C-reactive protein and LDL cholesterol levels were recorded for each patient. After RAE, outpatient clinic control laboratory values were also assessed. Findings All patients except one underwent bilateral RAE (four simultaneous or three sequential). Two patients experienced postembolization syndrome characterized by flank pain, fever, and leukocytosis, which was self-limited and responded to analgesics in all patients. There was no technical complications associated with RAE procedure. All patients became anuric except one. Serum albumin levels increased and serum LDL-cholesterol levels decreased considerably in treated patients. Discussion Renal artery embolization with the purpose of amelioration in nephrotic syndrome complications was effective and free of major technical complications in our patients. PMID:26833695

  5. Metabolic syndrome and central retinal artery occlusion

    OpenAIRE

    Kosanović-Jaković Natalija; Petrović Lidija; Risimić Dijana; Milenković Svetislav; Matić Danica

    2005-01-01

    Background. The accumulation of risk factors for central retinal artery occlusion can be seen in a single person and might be explained by the metabolic syndrome. Case report. We presented the case of a 52-year-old man with no light perception in his right eye. The visual loss was monocular and painless, fundoscopy showed central retinal artery occlusion and the laboratory investigation showed the raised erythrocyte sedimentation rate of 105 mm/h and the raised C-reactive protein of 22 mg/l. ...

  6. SUPERIOR MESENTERIC ARTERY SYNDROME - A REVIEW

    Directory of Open Access Journals (Sweden)

    Aneeta

    2014-02-01

    Full Text Available Superior mesenteric artery (SMA syndrome is a rare acquired disorder in which an acute angulation of SMA causes compression and obstruction of the third part of the duodenum between the SMA and the aorta. The diagnosis is usually made by exclusion. A large number of debilita ting conditions leading to a loss of fatty tissue such as anorexia nervosa , malabsorption , or hyper catabolic states like burns , major surgery , severe injuries , or malignancies can cause this syndrome. To our knowledge there are no cases reported in the In dian literature , though many such cases are being diagnosed and successfully treated the world over. We recently diagnosed and successfully treated a patient of S.M.A. syndrome in Shri Aurobindo Institute of Medical S ciences , Medical College and Post - G radu at e I nstitute. We take the opportunity to review the literature on S.M.A. syndrome

  7. Circle of Willis variant analogous to fetal type primitive trigeminal artery

    International Nuclear Information System (INIS)

    Primitive caroticobasilar anastomoses are uncommon embryonic arterial connections between the carotid (anterior) and vertebrobasilar (posterior) circulations. With the exception of extracranial proatlantal intersegmental arteries, these embryonic arterial anastomoses are named according to the cranial nerves which they parallel. In this report, a previously undescribed variant circle of Willis with supraclinoid caroticobasilar anastomosis, functionally equivalent to a fetal type primitive trigeminal artery, is presented. (orig.)

  8. Metabolic syndrome and central retinal artery occlusion

    Directory of Open Access Journals (Sweden)

    Kosanović-Jaković Natalija

    2005-01-01

    Full Text Available Background. The accumulation of risk factors for central retinal artery occlusion can be seen in a single person and might be explained by the metabolic syndrome. Case report. We presented the case of a 52-year-old man with no light perception in his right eye. The visual loss was monocular and painless, fundoscopy showed central retinal artery occlusion and the laboratory investigation showed the raised erythrocyte sedimentation rate of 105 mm/h and the raised C-reactive protein of 22 mg/l. Specific laboratory investigations and fluorescein angiography excluded the presence of vasculitis, collagen vascular diseases, hypercoagulable state and antiphospholipid syndrome. Conclusion. The patient met all the five of the National Cholesterol Education Program (NCEP criteria for the metabolic syndrome: hypertension, abnormal lipid profile, abnormal glucose metabolism, obesity and hyperuricemia. Measurement of C-reactive protein is useful for the assessment of therapeutic systemic effect on any abnormality in the metabolic syndrome. Individual therapy for all risk factors in the metabolic syndrome is necessary to prevent complications such as cardiovascular, retinal vascular diseases and stroke.

  9. SUPERIOR MESENTERIC ARTERY SYNDROME - A REVIEW

    OpenAIRE

    Aneeta; Sanjay,; Pramod,; Vaibhav; Ankur

    2014-01-01

    Superior mesenteric artery (SMA) syndrome is a rare acquired disorder in which an acute angulation of SMA causes compression and obstruction of the third part of the duodenum between the SMA and the aorta. The diagnosis is usually made by exclusion. A large number of debilita ting conditions leading to a loss of fatty tissue such as anorexia nervosa , malabsorption , or hyper catabolic states like burns , major surgery , severe injuries , or mal...

  10. Partial subclavian steal syndrome in a congenitally anomalous subclavian artery

    International Nuclear Information System (INIS)

    Background. A subclavian steal syndrome results from the abnormal flow of blood due to the occlusion in the subclavian artery proximal to the origin of the vertebral artery. A case of a male patient with a partial subclavian steal syndrome is presented. Case report. The syndrome was caused by a stenotic lesion of an aberrant right subclavian artery (the so called lusorian artery). The partial subclavian steal was recognized using the duplex ultrasound which showed the to and fro pattern in the right vertebral artery. Angiography of the aortic arch revealed the arterial anomaly. In our case, duplex ultrasound was a crucial method in diagnosing the partial subclavian steal syndrome. However, in order to show the arterial anomaly, the final evaluation had to be performed using arteriography. Conclusions. The early recognized partial subclavian steal syndrome provides good understanding of patient's symptoms, successful follow up, and a variety of treatment options. (author)

  11. A variant at chromosome 9p21 is associated with recurrent myocardial infarction and cardiac death after acute coronary syndrome:the GRACE Genetics Study

    OpenAIRE

    Buysschaert, Ian; Carruthers, Kathryn F.; Donald R Dunbar; Peuteman, Gilian; Rietzschel, Ernst; Belmans, Ann; Hedley, Ann; Meyer, Tim; Budaj, Andrzej; Werf, Frans; Lambrechts, Diether; Fox, Keith A. A.

    2010-01-01

    Recent genetic studies identified the rs1333049 variant on chromosome 9p21 as a major susceptibility locus for coronary artery disease and myocardial infarction (MI). Here, we evaluated whether this variant also contributes to recurrent MI or cardiac death following an acute coronary syndrome (ACS).

  12. A case of William's syndrome associated peripheral pulmonary arterial stenosis

    International Nuclear Information System (INIS)

    William's syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that 'infantile hypercalcemia', 'peculiar facies' and 'supravalvular aortic stenosis.' In has other many vascular anomalies, such as peripheral pulmonary arterial stenosis, coronary arterial stenosis, celiac arterial stenosis, and renal aterial stenosis. Only 32% of the patients have evidence of supravalvular aortic stenosis. And it is very rare disease entity that has been reported rarely in Korea. Recently authors experienced a case that was questioned William's syndrome with peripheral pulmonary arterial stenosis, clinically and preliminary radiologically and this case was confirmed by operation. Here we report a case of William's syndrome with peripheral pulmonary arterial stenosis and reviewed literatures

  13. Recurrent isolated abducens nerve paresis associated with persistent trigeminal artery variant.

    Science.gov (United States)

    Nakamagoe, Kiyotaka; Mamada, Naomi; Shiigai, Masanari; Shimizu, Kotone; Koganezawa, Tadachika; Tamaoka, Akira

    2012-01-01

    We report a 74-year-old woman who presented with recurrent isolated abducens nerve paresis. Cranial magnetic resonance imaging revealed that the right abducens nerve was sandwiched between the right internal carotid artery and a persistent trigeminal artery (PTA) variant, which might have led to neurovascular compression of the abducens nerve, resulting in abducens nerve damage. Normal variants of PTA, which are cerebellar arteries originating from a precavernous portion of the internal carotid artery, must be carefully observed as such variants can potentially cause a neurovascular compression of the abducens nerve. PMID:22892506

  14. Wilkie's Syndrome or Superior Mesenteric Artery Syndrome: Fact or Fantasy?

    Science.gov (United States)

    Zaraket, Vera; Deeb, Liliane

    2015-01-01

    Superior mesenteric artery (SMA) syndrome (known as Wilkie's syndrome) is a rare cause of upper gastrointestinal obstruction. It is an acquired disorder in which acute angulation of the SMA causes compression of the third part of the duodenum between the SMA and the aorta. This is commonly due to loss of fatty tissue as a result of a variety of debilitating conditions. We report a 17-year-old female who presented with intermittent abdominal pain and intractable vomiting following significant weight loss after hospitalization for pneumonia. Symptoms persisted for 2 years and the patient underwent extensive invasive and non-invasive tests, but to no avail. Thereafter she developed acute high intestinal obstruction, which unraveled her diagnosis. This case emphasizes the challenges in the diagnosis of SMA syndrome and the need for increased awareness of this entity. This will improve early recognition in order to reduce irrelevant tests and unnecessary treatments. PMID:26120301

  15. A fusiform aneurysm of a persistent trigeminal artery variant: case report and literature review.

    Science.gov (United States)

    Yang, Zhigang; Liu, Jianmin; Zhao, Wenyuan; Xu, Yi; Hong, Bo; Huang, Qinghai; He, Shike

    2010-04-01

    A 48-year-old man suffered from spontaneous subarachnoid hemorrhage. Emergent right internal carotid angiography showed the presence of a persistent trigeminal artery (PTA) variant with a fusiform aneurysm on its proximal segment where it branched from the internal carotid artery. This artery supplied the territory of the anterior inferior cerebellar artery. After consideration of the adequacy of the cerebellar circulation without this anomalous artery, intraluminal occlusion of the aneurysm together with the PTA variant was performed using detachable coils. The patient recovered uneventfully without any neurologic deficits. PMID:19690795

  16. Basilar artery thrombosis in the setting of antiphospholipid syndrome

    OpenAIRE

    Saad, Amin F.; Nickell, Larry T.; Heithaus, R. Evans; Shamim, Sadat A.; Opatowsky, Michael J.; Layton, Kennith F.

    2014-01-01

    Antiphospholipid syndrome is an autoimmune disorder characterized by arterial or venous thrombosis, recurrent first-trimester pregnancy loss, and multiple additional clinical manifestations. We describe a man with severe atherosclerotic basilar artery stenosis and superimposed in situ thrombus who was found to have antiphospholipid syndrome.

  17. Implication of the presence of a variant hepatic artery during the Whipple procedure

    Directory of Open Access Journals (Sweden)

    Mercedes Rubio-Manzanares-Dorado

    2015-07-01

    Full Text Available Introduction: The anatomical variants of the hepatic artery may have important implications for pancreatic cancer surgery. The aim of our study is to compare the outcome following a pancreatoduodenectomy (PD in patients with or without a variant hepatic artery arising from superior mesenteric artery. Material and methods: We reviewed 151 patients with periampullary tumoral pathology. All patients underwent oncological PD between January 2005 and February 2012. Our series was divided into two groups: Group A: Patients with a hepatic artery arising from superior mesenteric artery; and Group B: Patients without a hepatic artery arising from superior mesenteric artery. We expressed the results as mean ± standard deviation for continuous variables and percentages for qualitative variables. Statistical tests were considered significant if p < 0.05. Results: We identified 11 patients with a hepatic artery arising from superior mesenteric artery (7.3%. The most frequent variant was an aberrant right hepatic artery (n = 7, following by the accessory right hepatic artery (n = 2 and the common hepatic artery trunk arising from the superior mesenteric artery (n = 2. In 73% of cases the diagnosis of the variant was intraoperative. R0 resection was performed in all patients with a hepatic artery arising from superior mesenteric artery. There were no significant differences in the tumor resection margins and the incidence of postoperative complications. Conclusion: Oncological PD is feasible by the presence of a hepatic artery arising from superior mesenteric artery. The complexity of having it does not seem to influence in tumor resection margins, complications and survival.

  18. Pathological assessment of mismatch repair gene variants in Lynch syndrome

    DEFF Research Database (Denmark)

    Rasmussen, Lene Juel; Heinen, Christopher D; Royer-Pokora, Brigitte; Drost, Mark; Tavtigian, Sean; Hofstra, Robert M W; de Wind, Niels

    2012-01-01

    Lynch syndrome (LS) is caused by germline mutations in DNA mismatch repair (MMR) genes and is the most prevalent hereditary colorectal cancer syndrome. A significant proportion of variants identified in MMR and other common cancer susceptibility genes are missense or noncoding changes whose...... attention to common misconceptions about functional assays and endorse development of an integrated approach comprising validated assays for diagnosis of VUS in patients suspected of LS....

  19. Superior Mesenteric Artery Syndrome. An Infrequent Complications of Scoliosis Surgery.

    OpenAIRE

    Balık, Emre; Keskin, Metin; Akgül, Turgut; Bayraktar, Adem; Dikici, Fatih

    2014-01-01

    Superior mesenteric artery syndrome is a rare condition that causes a proximal small intestinal obstruction due to contraction of the angle between the superior mesenteric artery and the aorta. Scoliosis surgery is one of the 15 reasons for superior mesenteric artery syndrome, which can present with acute or chronic manifestations. Although conservative treatment is usually possible, surgical treatment is required in certain cases that cannot be treated using conservative methods. In this pap...

  20. Persistent Trigeminal Artery Variant: MR Angiographic Demonstration. A Report of Two Cases.

    Science.gov (United States)

    Soens, J; Vrabec, M; Demaerel, P; Wilms, G

    2010-12-01

    A variant (PTAV) is the persistence after birth of the fetal carotid-basilar anastomosis between the internal carotid artery and a cerebellar artery. We describe two cases of a PTAV demonstrated on MR angiography. A comparison with a persistant trigeminal artery is made and an explanation of the extended Saltzman classification is given. These variants have only little clinical significance, but their recognition is crucial before surgical or interventional procedures or to understand paradoxical cerebellar lesions. MRA appears inferior to selective angiography in diagnosing these variants. PMID:24148723

  1. Persistent trigeminal artery/persistent trigeminal artery variant and coexisting variants of the head and neck vessels diagnosed using 3 T MRA

    International Nuclear Information System (INIS)

    Aim: To report the prevalence and characteristic features of persistent trigeminal artery (PTA), PTA variant (PTAV), and other variants of the head and neck vessels, identified using magnetic resonance angiography (MRA). Materials and methods: The three-dimensional (3D) time of flight (TOF) MRA and 3D contrast-enhanced (CE) MRA images of 6095 consecutive patients who underwent 3 T MRA at Liaocheng People's Hospital from 1 September 2008 through 31 May 2012 were retrospectively reviewed and analysed. Thirty-two patients were excluded because of suboptimal image quality or internal carotid artery (ICA) occlusion. Results: The prevalence of both PTA and PTAV was 0.63% (PTA, 26 cases; PTAV, 12 cases). The prevalence of coexisting variants of the head and neck vessels in cases of PTA/PTAV was 52.6% (20 of 38 cases). The vascular variants that coexisted with cases of PTA/PTAV were as follows: the intracranial arteries varied in 10 cases, the origin of the supra-aortic arteries varied in nine cases, the vertebral artery (VA) varied in 14 cases, and six cases displayed fenestrations. Fifteen of the 20 cases contained more than two types of variants. Conclusion: The prevalence of both PTA and PTAV was 0.63%. Although PTA and PTAV are rare vascular variants, they frequently coexist with other variants of the head and neck vessels. Multiple vascular variations can coexist in a single patient. Recognizing PTA, PTAV, and other variants of the head and neck vessels is crucial when planning a neuroradiological intervention or surgery. Recognizing the medial PTA is very important in clinical practice when performing trans-sphenoidal surgery on the pituitary as failure to do so could result in massive haemorrhage

  2. Anterior communicating artery aneurysm associated with an infraoptic course of anterior cerebral artery and rare variant of the persistent trigeminal artery: a case report and literature review.

    Science.gov (United States)

    Turkoglu, Erhan; Arat, Anıl; Patel, Nirav; Kertmen, Hayri; Başkaya, Mustafa K

    2011-05-01

    Infraoptic course of the precommunicating segment of the anterior cerebral artery (A1) is a rare anomaly. Furthermore, the presence of this anomaly associated with persistent trigeminal artery variant has been reported in the literature only once. We present a patient who had infraoptic course of A1 associated with an ipsilateral persistent trigeminal artery variant arising from the right internal carotid artery with no apparent connection to the basilar artery. The persistent trigeminal artery variant supplied to the right posteroinferior cerebellar artery territory. The patient also had hypoplastic left vertebral artery, superior cerebellar arteries originating from posterior cerebellar arteries bilaterally, and a bilobed aneurysm of the anterior communicating artery. The aneurysm was clipped and the infraoptic course was verified during the surgery. The post-operative course was uneventful and a follow-up arteriogram on the 7th postoperative day revealed successful obliteration of the aneurysm. We reviewed the literature with respect to presentation, associated vascular anomalies, imaging, associated cerebral aneurysms and other cerebral abnormalities, and treatment of the associated aneurysms. A discussion of the embryogenesis of this rare anomaly is also provided. PMID:21269759

  3. Variant Branching Pattern of Axillary Artery: A Case Report

    OpenAIRE

    Swamy Ravindra Shantakumar; Mohandas Rao, K. G.

    2012-01-01

    During routine dissection of an approximately 50-year-old male cadaver for the undergraduate medical students at Melaka Manipal Medical College, Manipal University, Manipal, we came across a variation in branching pattern of right axillary artery. The second part of axillary artery gave rise to a common trunk which divided into the subscapular and lateral thoracic arteries. The third part of right axillary artery gave rise to anterior and posterior circumflex humeral arteries. Variations in t...

  4. A rare variant of persistent trigeminal artery: cavernous carotid-cerebellar artery anastomosis--a case report and a systematic review.

    Science.gov (United States)

    Raphaeli, Guy; Bandeira, Alexandra; Mine, Benjamin; Brisbois, Denis; Lubicz, Boris

    2009-12-01

    We report a very rare anomalous anatomic variant of the cavernous internal carotid artery supplying directly the posterior inferior cerebellar artery, with no basilar artery opacification. A systematic review as well as a description of other variants of trigeminal-cerebellar anastomosis is given. PMID:19517204

  5. Variant PTA Terminating in Cerebellar Artery, Associated with Multiple Aneurysms

    Directory of Open Access Journals (Sweden)

    Yeong Uk Hwang

    2016-01-01

    Full Text Available Persistent trigeminal artery (PTA is one of the remnant fetal anastomoses between the carotid artery and basilar artery. PTAs are classified according to angiographic appearance and various connection. Among them, those directly terminating in the cerebellar arteries are rare subtype. In addition, aneurysms of the PTA are unusual in the literature and have not previously accompanied this subtype of PTA connecting cerebellar artery. We present the first case of an aneurysm of the PTA which is directly terminating in the cerebellar arteries and combined with multiple aneurysms.

  6. Variant PTA Terminating in Cerebellar Artery, Associated with Multiple Aneurysms.

    Science.gov (United States)

    Hwang, Yeong Uk; Kim, Jin Woo

    2016-01-01

    Persistent trigeminal artery (PTA) is one of the remnant fetal anastomoses between the carotid artery and basilar artery. PTAs are classified according to angiographic appearance and various connection. Among them, those directly terminating in the cerebellar arteries are rare subtype. In addition, aneurysms of the PTA are unusual in the literature and have not previously accompanied this subtype of PTA connecting cerebellar artery. We present the first case of an aneurysm of the PTA which is directly terminating in the cerebellar arteries and combined with multiple aneurysms. PMID:27446623

  7. Waardenburg syndrome with familial unilateral renal agenesis: a new syndrome variant?

    Science.gov (United States)

    Webb, Katie M; Smith, Alisha J; Dansby, Linda M; Diskin, Charles J

    2015-06-01

    A 64-year-old man with Waardenburg syndrome presented with anuria and was subsequently discovered by renal ultrasound to have unilateral renal agenesis. The patient is one of three generations with incidental finding of renal agenesis also marked by the presence of Waardenburg syndrome. To our knowledge, there has been no mention elsewhere in the scientific literature of a variant of Waardenburg syndrome with associated renal agenesis. PMID:25402868

  8. Acute tumor lysis syndrome after proximal splenic artery embolization

    OpenAIRE

    Jason T. Salsamendi; Mehul H. Doshi; Francisco J. Gortes; Levi, Joe U; Govindarajan Narayanan

    2016-01-01

    Preoperative splenic artery embolization for massive splenomegaly has been shown to reduce intraoperative hemorrhage during splenectomy. We describe a case of tumor lysis syndrome after proximal splenic artery embolization in a patient with advanced mantle cell lymphoma and splenic involvement. The patient presented initially with hyperkalemia two days after embolization that worsened during splenectomy. He was stabilized, but developed laboratory tumor lysis syndrome with renal failure and e...

  9. Gastrointestinal variant of Lemierre's syndrome complicating ruptured appendicitis

    OpenAIRE

    Fadi Al Akhrass; Lina Abdallah; Steven Berger; Rami Sartawi

    2015-01-01

    Fusobacterium necrophorum is a non-spore-forming, obligate anaerobic, filamentous, gramnegative bacillus that frequently colonizes the human oral cavity, respiratory tract, and gastrointestinal tract. Fusobacterium species have rarely been implicated in cases of gastrointestinal variant of Lemierre's syndrome. We describe a case of F. necrophorum bacteremia associated with suppurative porto-mesenteric vein thrombosis (PVT) following acute ruptured appendicitis. In addition, we list the docume...

  10. Tafazzin splice variants and mutations in Barth syndrome.

    Science.gov (United States)

    Kirwin, Susan M; Manolakos, Athena; Barnett, Sarah Swain; Gonzalez, Iris L

    2014-01-01

    Barth syndrome is caused by mutations in the TAZ (tafazzin) gene on human chromosome Xq28. The human tafazzin gene produces four major mRNA splice variants; two of which have been shown to be functional (TAZ lacking exon 5 and full-length) in complementation studies with yeast and Drosophila. This study characterizes the multiple alternative splice variants of TAZ mRNA and their proportions in blood samples from a cohort of individuals with Barth syndrome (BTHS). Because it has been reported that collection and processing methods can affect the expression of various genes, we tested and chose a stabilizing medium for collecting, shipping and processing of the blood samples of these individuals. In both healthy controls and in BTHS individuals, we found a greater variety of alternatively spliced forms than previously described, with a sizeable proportion of minor splice variants besides the four dominant isoforms. Individuals with certain exonic and intronic splice mutations produce additional mutant mRNAs that could be translated into two or more proteins with different amino acid substitutions in a single individual. A fraction of the minor splice variants is predicted to be non-productive. PMID:24342716

  11. Popliteal artery entrapment syndrome in a young girl

    Energy Technology Data Exchange (ETDEWEB)

    Haidar, Salwa; Thomas, Karen; Miller, Stephen [Hospital for Sick Children, Department of Diagnostic Imaging, Toronto, Ontario (Canada)

    2005-04-01

    Popliteal artery entrapment syndrome (PAES) is well-described in adults, but is an uncommon cause of lower-limb pain in children. We present an 11.5-year-old girl with thrombosed aneurysm of the right popliteal artery, subsequently diagnosed with bilateral type I PAES. Multimodality illustration of the radiological findings is presented. (orig.)

  12. A new diagnostic approach to popliteal artery entrapment syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Williams, Charles; Kennedy, Dominic; Bastian-Jordan, Matthew; Hislop, Matthew; Cramp, Brendan; Dhupelia, Sanjay [Queensland X-Ray, Sunnybank, Queensland, 4109 (Australia)

    2015-09-15

    A new method of diagnosing and defining functional popliteal artery entrapment syndrome is described. By combining ultrasonography and magnetic resonance imaging techniques with dynamic plantarflexion of the ankle against resistance, functional entrapment can be demonstrated and the location of the arterial occlusion identified. This combination of imaging modalities will also define muscular anatomy for guiding intervention such as surgery or Botox injection.

  13. A new diagnostic approach to popliteal artery entrapment syndrome

    International Nuclear Information System (INIS)

    A new method of diagnosing and defining functional popliteal artery entrapment syndrome is described. By combining ultrasonography and magnetic resonance imaging techniques with dynamic plantarflexion of the ankle against resistance, functional entrapment can be demonstrated and the location of the arterial occlusion identified. This combination of imaging modalities will also define muscular anatomy for guiding intervention such as surgery or Botox injection

  14. Popliteal artery entrapment syndrome in a young girl

    International Nuclear Information System (INIS)

    Popliteal artery entrapment syndrome (PAES) is well-described in adults, but is an uncommon cause of lower-limb pain in children. We present an 11.5-year-old girl with thrombosed aneurysm of the right popliteal artery, subsequently diagnosed with bilateral type I PAES. Multimodality illustration of the radiological findings is presented. (orig.)

  15. Internal mammary artery aneurysm in Marfan syndrome: case report

    International Nuclear Information System (INIS)

    Marfan syndrome has a pleomorphic phenotype. Those affected have abnormalities in the eyes and in the nervous, cardiovascular and musculoskeletal systems. Among these abnormalities are many reported aneurysms, involving the ascending, descending thoracic and abdominal aorta, the sinus of Valsalva, and the internal carotid artery. We report a left internal mammary artery (LIMA) aneurysm in a patient with Marfan syndrome and no other known predisposition to such an aneurysm. No other case of LIMA aneurysm in Marfan syndrome has, to our knowledge, been reported. (author)

  16. Internal mammary artery aneurysm in Marfan syndrome: case report

    Energy Technology Data Exchange (ETDEWEB)

    Common, A.A.; Pressacco, J.; Wilson, J.K. [Univ. of Toronto, Dept. of Mecial Imaging, Toronto, Ontario (Canada)

    1999-02-01

    Marfan syndrome has a pleomorphic phenotype. Those affected have abnormalities in the eyes and in the nervous, cardiovascular and musculoskeletal systems. Among these abnormalities are many reported aneurysms, involving the ascending, descending thoracic and abdominal aorta, the sinus of Valsalva, and the internal carotid artery. We report a left internal mammary artery (LIMA) aneurysm in a patient with Marfan syndrome and no other known predisposition to such an aneurysm. No other case of LIMA aneurysm in Marfan syndrome has, to our knowledge, been reported. (author)

  17. Eagle syndrome presenting with external carotid artery pseudoaneurysm

    OpenAIRE

    Dao, Van Anh; Karnezis, Stellios; Lane, John S.; Fujitani, Roy M.; Saremi, Farhood

    2011-01-01

    Eagle syndrome refers to a clinical syndrome caused by the abnormal elongation of the styloid process with calcification/ossification of the stylohyoid ligament. We present the first reported case of Eagle syndrome resulting in an external carotid artery (ECA) pseudoaneurysm. A patient presented to emergency room with an expanding, painful right-neck mass. CT angiography with three-dimensional volume rendering showed a bilobed 4.0-cm right ECA pseudoaneurysm and bilateral ossification of the ...

  18. The association of breast arterial calcification and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Seyma Yildiz

    2014-01-01

    Full Text Available OBJECTIVES: We investigated the relationship between metabolic syndrome and breast arterial calcification detected via mammography in a cohort of postmenopausal subjects. METHODS: Among 837 patients referred to our radiology department for mammographic screening, 310 postmenopausal females (105 patients with and 205 patients without breast arterial calcification aged 40 to 73 (mean 55.9±8.4 years were included in this study. The groups were compared with respect to clinical characteristics and metabolic syndrome criteria. Univariate and multivariate analyses identified the factors related to breast arterial calcification. RESULTS: Age, postmenopausal duration and the frequencies of diabetes mellitus, hypertension and metabolic syndrome were significantly higher in the subjects with breast arterial calcification than in those without (p<0.05. Multivariate analysis indicated that age (OR = 1.3, 95% CI = 1.1-1.6, p = 0.001 and metabolic syndrome (OR = 4.0, 95% CI = 1.5−10.4, p = 0.005 were independent predictors of breast arterial calcification detected via mammography. The independent predictors among the features of metabolic syndrome were low levels of high-density lipoproteins (OR = 8.1, 95% CI = 1.0−64.0, p = 0.047 and high blood pressure (OR = 8.7, 95% CI = 1.5−49.7, p = 0.014. CONCLUSIONS: The likelihood of mammographic detection of breast arterial calcification increases with age and in the presence of hypertension or metabolic syndrome. For patients undergoing screening mammography who present with breast arterial calcification, the possibility of metabolic syndrome should be considered. These patients should be informed of their cardiovascular risk factors and counseled on appropriate lifestyle changes.

  19. Pharyngeal-cervical-brachial variant of Guillain-Barre syndrome.

    Science.gov (United States)

    Wakerley, Benjamin R; Yuki, Nobuhiro

    2014-03-01

    The pharyngeal-cervical-brachial (PCB) variant of Guillain-Barré syndrome is defined by rapidly progressive oropharyngeal and cervicobrachial weakness associated with areflexia in the upper limbs. Serial nerve conduction studies suggest that PCB represents a localised subtype of Guillain-Barré syndrome characterised by axonal rather than demyelinating neuropathy. Many neurologists are unfamiliar with PCB, which is often misdiagnosed as brainstem stroke, myasthenia gravis or botulism. The presence of additional ophthalmoplegia and ataxia indicates overlap with Fisher syndrome. Half of patients with PCB carry IgG anti-GT1a antibodies which often cross-react with GQ1b, whereas most patients with Fisher syndrome carry IgG anti-GQ1b antibodies which always cross-react with GT1a. Significant overlap between the clinical and serological profiles of these patients supports the view that PCB and Fisher syndrome form a continuous spectrum. In this review, we highlight the clinical features of PCB and outline new diagnostic criteria. PMID:23804237

  20. Subclavian Steal Syndrome with or without Arterial Stenosis: A Review.

    Science.gov (United States)

    Kargiotis, Odysseas; Siahos, Simos; Safouris, Apostolos; Feleskouras, Agisilaos; Magoufis, Georgios; Tsivgoulis, Georgios

    2016-09-01

    The subclavian-vertebral artery steal syndrome (SSS) is the hemodynamic phenomenon of blood flow reversal in the vertebral artery due to significant stenosis or occlusion of the proximal subclavian artery or the innominate artery. Occasionally, SSS is diagnosed in patients not harboring arterial stenosis. With the exception of arterial congenital malformations, the limited case reports of SSS with intact subclavian artery are attributed to dialysis arteriovenous fistulas (AVFs). Interestingly, these cases are more frequently symptomatic than those with the classical atherosclerotic SSS forms. On the other hand, the disclosure of SSS due to subclavian/innominate artery atherosclerotic stenosis, even in the absence of accompanying symptoms, should prompt a thorough cardiovascular work-up for the early detection of coexisting coronary, carotid, or peripheral artery disease. Herein, we review the incidence, clinical presentation, sonographic findings, and therapeutic interventions related to SSS with and without subclavian/innominate artery stenosis. We also review the currently available data in the literature regarding the association of SSS and dialysis AVF. In addition, we present a patient with bilateral symptomatic SSS as the result of an arteriovenous graft (AVG) that was introduced after the preexisting AVF in the contralateral arm became nonfunctional. SSS due to subclavian or innominate artery stenosis/occlusion is rarely symptomatic warranting interventional treatment. In contrast, when it is attributed to AVF, surgical correction is frequently necessary. PMID:27301069

  1. A STUDY OF VARIANT HEPATIC ARTERIAL ANATOMY AND ITS RELEVANCE IN CURRENT SURGICAL PRACTICE

    Directory of Open Access Journals (Sweden)

    Kavitha Kamath. B.

    2015-03-01

    Full Text Available Background: With increase in the number of laparoscopic procedures, oncologic surgical interventions and organ transplant cases, anatomy and variations of hepatic arterial system have become increasingly important. Variations in these vessels may predispose the patients to inadvertent injury during open surgical procedures or percutaneous interventions. Aims: The present study is intended to contribute to the pre-existing data regarding the variations in the branching pattern of hepatic artery and throw light on their clinical implications. Methods: Extrahepatic branching pattern of hepatic arteries were studied in 40 embalmed cadavers of both sexes by dissection method. Results: Classical text book pattern of hepatic arterial anatomy was seen in 30(75% cases and ten (25% cases showed the presence of aberrant hepatic arteries. 12 aberrant hepatic arteries were seen in these ten cases, eight (20% cases with single aberrant hepatic artery and two (5% with combination of aberrant right and left hepatics. Aberrant right hepatic arteries were seen in four (10% cases and all of them were replaced right hepatics arising directly from celiac trunk. Aberrant left hepatic arteries were seen in eight (20% cases, of which six (15% were accessory, two (5% were replaced and all of them arose from the left gastric artery. Conclusion: Because of high incidence of variations in branching pattern of hepatic artery it is very important to have a thorough knowledge of these variants and identify them so as to prevent iatrogenic injuries and increase rate of success of the surgical and interventional procedures in hepatobiliary region.

  2. Transcatheter Splenic Artery Occlusion for Treatment of Splenic Artery Steal Syndrome After Orthotopic Liver Transplantation

    International Nuclear Information System (INIS)

    Purpose: To review some aspects of the problem of splenic artery steal syndrome as cause of ischemia in transplanted livers and treatment by selective splenic artery occlusion. Materials and Methods: Eleven liver transplant patients from a group of 350 patients, nine men and two women,ranging in age from 40 years to 61 years (mean 52 years), presented with biochemical evidences of liver ischemia and failure, ranging from one to 60 days following orthotopic liver transplantation. Diagnosis of splenic artery steal syndrome was suspected by elevated enzymes, Doppler ultrasound and confirmed by celiac angiogram. Patients with confirmed hepatic artery thrombosis before angiography were excluded from the study. Embolization with Gianturco coils was performed. Results: All patients were treated by splenic artery embolization with Gianturco coils. The 11 patients improved clinically within 24 hours of the procedure with significant change in the biochemical and clinical parameters. Followup ranged from one month to two years. One of the 11 patient initially improved, but developed hepatic artery thrombosis within 24 hours of the embolic treatment,requiring surgical repair. Conclusion: Splenicartery steal syndrome following liver transplantation surgery can be diagnosed by celiac angiography, and effectively treated by splenic artery embolization with coils. Embolization is one of the treatments available, it is minimally invasive, and leads to immediate clinical improvement. Hepatic artery thrombosis is a possible complication of the procedure

  3. Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour.

    OpenAIRE

    Peden, JF; Farrall, M

    2011-01-01

    Coronary artery disease (CAD) is the leading cause of death worldwide. Affected individuals cluster in families in patterns that reflect the sharing of numerous susceptibility genes. Genome-wide and large-scale gene-centric genotyping studies that involve tens of thousands of cases and controls have now mapped common disease variants to 34 distinct loci. Some coronary disease common variants show allelic heterogeneity or copy number variation. Some of the loci include candidate genes that imp...

  4. Atypical presentation of popliteal artery entrapment syndrome: involvement of the anterior tibial artery.

    Science.gov (United States)

    Bou, Steven; Day, Carly

    2014-11-01

    Popliteal artery entrapment syndrome (PAES) is a rare condition that should be suspected in a young patient with exertional lower extremity pain. We report the case of an 18-year-old female volleyball player with bilateral exertional lower extremity pain who had been previously diagnosed with tendinitis and periostitis. Diagnostic studies showed entrapment of the left popliteal artery and the left anterior tibial artery. To our knowledge, there has only been 1 previous report of anterior tibial artery involvement in PAES. PMID:24880061

  5. [Trigeminal neuralgia in an elderly patient associated with a variant of persistent primitive trigeminal artery].

    Science.gov (United States)

    Kawahara, Ichiro; Motokawa, Tetsufumi; Umeno, Tetsuya; Morofuji, Yoichi; Takahata, Hideaki; Toda, Keisuke; Tsutsumi, Keisuke; Baba, Hiroshi; Yonekura, Masahiro

    2011-09-01

    An 86-year-old woman presented with a 10-year history of right paroxysmal facial pain. The trigger zone was the right maxilla. Magnetic resonance (MR) angiography and MR cisternography sourse images showed an aberrant artery originating from the right internal carotid artery anastomosed to the anterior inferior cerebellar artery territory (AICA) of the cerebellum, and it was closed at the root entry zone of trigeminal nerve. The patient underwent microvascular decompression (MVD), and her pain resolved after the operation. Most of the offending vessels that cause trigeminal neuralgia are the superior cerebellar artery (75-80%) and AICA. Although persistent primitive trigeminal artery (PTA) is the most common type of persistent carotid-basilar anastomosis, trigeminal neuralgia associated with PTA or a PTA variant is very rare, and particularly, a PTA variant is an uncommon, anomalous, intracranial vessel. It is necessary to inspect MR imaging scans carefully prior to MVD surgery because they are frequently associated with intracranial aneurysms. During surgery, we must be careful not to injure the perforating arteries from the PTA variant. MVD for trigeminal neuralgia in elderly patients is effective if the patients can have a tolerate general anesthesia. However, when we plan surgery for elderly patients, we must take care that it does not to lead to unexpected complications. PMID:21878704

  6. Anomalous Origin of Right Coronary Artery from Distal Left Circumflex Artery: A Very Rare Variant of Single Coronary Artery Anomaly

    OpenAIRE

    Arash Gholoobi

    2016-01-01

    Among coronary anomalies, Single Coronary Artery (SCA) is a rare anomaly in which one coronary artery stems from a single coronary ostium from the aortic sinuses, nourishing the entire heart. A very rare subtype of this anomaly is the anomalous origin of the Right Coronary Artery (RCA) from the distal Left Circumflex (LCx) artery.

  7. Improved circulation in ocular ischemic syndrome after carotid artery stenting

    Institute of Scientific and Technical Information of China (English)

    WANG Yan-ling; ZHAO Lu; LI Ming-ming

    2011-01-01

    Ocular ischemic syndrome is a chronic ischemic eye disease including a series of ischemic ocular and brain syndromes caused by carotid artery occlusion or stenosis.Because of the different degrees of ischemia,clinical manifestations of ocular ischemic syndrome are diverse,and it is difficult to diagnose in the initial stage.The main strategy to treat ocular ischemic syndrome is elimination of carotid stenosis.We presented a patient who recovered dramatically after carotid artery stenting.The pre-stenting arm-retinal circulation time of the patient's left eye was prolonged,and a large amount of microaneurysm appeared at the posterior polar and mid-peripheral aspects of the left retina.The post-stenting arm-retinal circulation time of the left eye decreased to 16.3 seconds,and the microaneurysm almost disappeared.

  8. Large-scale gene-centric analysis identifies novel variants for coronary artery disease

    NARCIS (Netherlands)

    Butterworth, A.S.; Braund, P.S.; Hardwick, R.J.; Saleheen, D.; Peden, J.F.; Soranzo, N.; Chambers, J.C.; Kleber, M.E.; Keating, B.; Qasim, A.; Klopp, N.; Erdmann, J.; Basart, H.; Baumert, J.H.; Bezzina, C.R.; Boehm, B.O.; Brocheton, J.; Bugert, P.; Cambien, F.; Collins, R.; Couper, D.; Jong, J.S. de; Diemert, P.; Ejebe, K.; Elbers, C.C.; Elliott, P.; Fornage, M.; Frossard, P.; Garner, S.; Hunt, S.E.; Kastelein, J.J.; Klungel, O.H.; Kluter, H.; Koch, K.; Konig, I.R.; Kooner, A.S.; Liu, K.; McPherson, R.; Musameh, M.D.; Musani, S.; Papanicolaou, G.; Peters, A.; Peters, B.J.; Potter, S.; Psaty, B.M.; Rasheed, A.; Scott, J.; Seedorf, U.; Sehmi, J.S.; Sotoodehnia, N.; Stark, K.; Stephens, J.; Schoot, C.E. van der; Schouw, Y.T. van der; Harst, P. van der; Vasan, R.S.; Wilde, A.A.; Willenborg, C.; Winkelmann, B.R.; Zaidi, M.; Zhang, W.; Ziegler, A.; Koenig, W.; Matz, W.; Trip, M.D.; Reilly, M.P.; Kathiresan, S.; Schunkert, H.; Hamsten, A.; Hall, A.S.; Kooner, J.S.; Thompson, S.G.; Thompson, J.R.; Watkins, H.; Danesh, J.; Barnes, T.; Rafelt, S.; Codd, V.; Bruinsma, N.; Dekker, L.R.; Henriques, J.P.; Koch, K.T.; Winter, R.J. de; Alings, M.; Allaart, C.F.; Gorgels, A.P.; Verheugt, F.W.A.; Mueller, M.; Meisinger, C.; DerOhannessian, S.; Mehta, N.N.; Ferguson, J.; Hakonarson, H.; Matthai, W.; Wilensky, R.; Hopewell, J.C.; Parish, S.; Linksted, P.; Notman, J.; Gonzalez, H.; Young, A.; Ostley, T.; Munday, A.; Goodwin, N.; Verdon, V.; Shah, S.; Edwards, C.; Mathews, C.; Gunter, R.; Benham, J.; Davies, C.; Cobb, M.; Cobb, L.; Crowther, J.; Richards, A.; Silver, M.; Tochlin, S.; Mozley, S.; Clark, S.; Radley, M.; Kourellias, K.; Olsson, P.; Barlera, S.; Tognoni, G.; Rust, S.; Assmann, G.; Heath, S.; Zelenika, D.; Gut, I.; Green, F.; Farrall, M.; Peden, J.; Goel, A.; Ongen, H.; Franzosi, M.G.; Lathrop, M.; Clarke, R.; Aly, A.; Anner, K.; Bjorklund, K.; Blomgren, G.; Cederschiold, B.; Danell-Toverud, K.; Eriksson, P.; Grundstedt, U.; Heinonen, M.; Hellenius, M.L.; Hooft, F. van 't; Husman, K.; Lagercrantz, J.; Larsson, A.; Larsson, M.; Mossfeldt, M.; Malarstig, A.; Olsson, G.; Sabater-Lleal, M.; Sennblad, B.; Silveira, A.; Strawbridge, R.; Soderholm, B.; Ohrvik, J.; Zaman, K.S.; Mallick, N.H.; Azhar, M.; Samad, A.; Ishaq, M.; Shah, N.; Samuel, M.; Kathiresan, S.C.; Reilly, M.; Assimes, T.L.; Holm, H.; Preuss, M.; Stewart, A.F.; Barbalic, M.; Gieger, C.; Absher, D.; Aherrahrou, Z.; Allayee, H.; Altshuler, D.; Anand, S.; Andersen, K.; Anderson, J.L.; Ardissino, D.; Ball, S.G.; Balmforth, A.J.; Barnes, T.A.; Becker, L.C.; Becker, D.M.; Berger, K.; Bis, J.C.; Boekholdt, S.M.; Boerwinkle, E.; Brown, M.J.; Burnett, M.S.; Buysschaert, I.; Carlquist, J.F.; Chen, L.; Davies, R.W.; Dedoussis, G.; Dehghan, A.; Demissie, S.; Devaney, J.; Do, R.; Doering, A.; El Mokhtari, N.E.; Ellis, S.G.; Elosua, R.; Engert, J.C.; Epstein, S.; Faire, U. de; Fischer, M.; Folsom, A.R.; Freyer, J.; Gigante, B.; Girelli, D.; Gretarsdottir, S.; Gudnason, V.; Gulcher, J.R.; Tennstedt, S.; Halperin, E.; Hammond, N.; Hazen, S.L.; Hofman, A.; Horne, B.D.; Illig, T.; Iribarren, C.; Jones, G.T.; Jukema, J.W.; Kaiser, M.A.; Kaplan, L.M.; Khaw, K.T.; Knowles, J.W.; Kolovou, G.; Kong, A.; Laaksonen, R.; Lambrechts, D.; Leander, K.; Li, M.; Lieb, W.; Lettre, G.; Loley, C.; Lotery, A.J.; Mannucci, P.M.; Martinelli, N.; McKeown, P.P.; Meitinger, T.; Melander, O.; Merlini, P.A.; Mooser, V.; Morgan, T.; Muhleisen T.W., .; Muhlestein, J.B.; Musunuru, K.; Nahrstaedt, J.; Nothen, M.M.; Olivieri, O.; Peyvandi, F.; Patel, R.S.; Patterson, C.C.; Qu, L.; Quyyumi, A.A.; Rader, D.J.; Rallidis, L.S.; Rice, C.; Roosendaal, F.R.; Rubin, D.; Salomaa, V.; Sampietro, M.L.; Sandhu, M.S.; Schadt, E.; Schafer, A.; Schillert, A.; Schreiber, S.; Schrezenmeir, J.; Schwartz, S.M.; Siscovick, D.S.; Sivananthan, M.; Sivapalaratnam, S.; Smith, A.V.; Smith, T.B.; Snoep, J.D.; Spertus, J.A.; Stefansson, K.; Stirrups, K.; Stoll, M.; Tang, W.H.; Thorgeirsson, G.; Thorleifsson, G.; Tomaszewski, M.; Uitterlinden, A.G.; Rij, A.M. van; Voight, B.F.; Wareham, N.J.; AWells, G.; Wichmann, H.E.; Witteman, J.C.; Wright, B.J.; Ye, S.; Cupples, L.A.; Quertermous, T.; Marz, W.; Blankenberg, S.; Thorsteinsdottir, U.; Roberts, R.; O'Donnell, C.J.; Onland-Moret, N.C.; Setten, J. van; Bakker, P.I. de; Verschuren, W.M.; Boer, J.M.; Wijmenga, C.; Hofker, M.H.; Maitland-van der Zee, A.H.; Boer, A. de; Grobbee, D.E.; Attwood, T.; Belz, S.; Cooper, J.; Crisp-Hihn, A.; Deloukas, P.; Foad, N.; Goodall, A.H.; Gracey, J.; Gray, E.; Gwilliams, R.; Heimerl, S.; Hengstenberg, C.; Jolley, J.; Krishnan, U.; Lloyd-Jones, H.; Lugauer, I.; Lundmark, P.; Maouche, S.; Moore, J.S.; Muir, D.; Murray, E.; Nelson, C.P.; Neudert, J.; Niblett, D.; O'Leary, K.; Ouwehand, W.H.; Pollard, H.; Rankin, A.; Rice, C.M.; Sager, H.; Samani, N.J.; Sambrook, J.; Schmitz, G.; Scholz, M.; Schroeder, L.; Syvannen, A.C.; Wallace, C.

    2011-01-01

    Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. W

  9. Interventional therapy of complications after liver transplantation: arterial steal syndrome

    International Nuclear Information System (INIS)

    Arterial steal syndrome (ASS), a scarce complication after liver transplantation, is characterized by hepatic arterial hypoperfusion of the graft caused by a shifting of blood flow into the splenic, left gastric, or gastroduodenal arteries. It can lead to stricture formation of biliary system and transplanted liver function exhaustion. The early diagnosis and treatment are important for protecting the transplanted liver function. Dynamic CDFI after liver transplantation as a routine is necessary to find out the suspected lesions, and transcatheter angiography as the gold standardization can give clear dignosis. Embolization of splenic artery is minimally invasive, successful and less complication treatment for ASS and especially the coil embolization of middle segment of splenic artery is the best choice. (authors)

  10. A rare variant of the ulnar artery with important clinical implications: a case report

    Directory of Open Access Journals (Sweden)

    Casal Diogo

    2012-11-01

    Full Text Available Abstract Background Variations in the major arteries of the upper limb are estimated to be present in up to one fifth of people, and may have significant clinical implications. Case presentation During routine cadaveric dissection of a 69-year-old fresh female cadaver, a superficial brachioulnar artery with an aberrant path was found bilaterally. The superficial brachioulnar artery originated at midarm level from the brachial artery, pierced the brachial fascia immediately proximal to the elbow, crossed superficial to the muscles that originated from the medial epicondyle, and ran over the pronator teres muscle in a doubling of the antebrachial fascia. It then dipped into the forearm fascia, in the gap between the flexor carpi radialis and the palmaris longus. Subsequently, it ran deep to the palmaris longus muscle belly, and superficially to the flexor digitorum superficialis muscle, reaching the gap between the latter and the flexor carpi ulnaris muscle, where it assumed is usual position lateral to the ulnar nerve. Conclusion As far as the authors could determine, this variant of the superficial brachioulnar artery has only been described twice before in the literature. The existence of such a variant is of particular clinical significance, as these arteries are more susceptible to trauma, and can be easily confused with superficial veins during medical and surgical procedures, potentially leading to iatrogenic distal limb ischemia.

  11. Severe Hypertension Secondary to Renal Artery Stenosis and Cushing's Syndrome

    International Nuclear Information System (INIS)

    We present an unusual patient who simultaneously had severe renal artery stenosis RAS and Cushings syndrome. The case highlights the difficulty of reaching a specific diagnosis of Cushings syndrome and the possible interaction between Cushings syndrome and some other concurrent illnesses that this patient had. A 37-year old man presented with severe hypertension HTN and uncontrolled diabetes mellitus DM without clear physical signs of Cushings syndrome. He was found to have severe osteoporosis, proximal myopathy, several cutaneous warts, tinea versicolor, and chronic viral hepatitis. Captopril-stimulated renal scan and renal artery angiogram revealed severe RAS. Partial balloon dilatation of RAS led to improvement in HTN. Unexpectedly, urine free cortisol 24 hour was found extremely high. Serum adrenocorticotropic hormone ACTH was also elevated and high dose dexamethasone suppression tests were inconclusive. Several imaging studies failed to localize the source of ACTH. Despite normal MRI of the pituitary gland, bilateral inferior petrosal sinus sampling IPSS localized the source of ACTH secretion to the right side of the pituitary gland and right anterior hemihypophysectomy resulted in cure of Cushings disease, HTN, DM, and tinea versicolor with significant improvement in cutaneous warts, osteoporosis, and chronic hepatitis. In conclusion, RAS and Cushings syndrome may occur together. Significant hypercortisolemia can occur without clear signs of Cushings syndrome. Controlling hypercortisolemia is of paramount importance when treating chronic infections in patients with Cushing's syndrome. (author)

  12. Gastrointestinal variant of Lemierre's syndrome complicating ruptured appendicitis

    Directory of Open Access Journals (Sweden)

    Fadi Al Akhrass

    2015-01-01

    Full Text Available Fusobacterium necrophorum is a non-spore-forming, obligate anaerobic, filamentous, gramnegative bacillus that frequently colonizes the human oral cavity, respiratory tract, and gastrointestinal tract. Fusobacterium species have rarely been implicated in cases of gastrointestinal variant of Lemierre's syndrome. We describe a case of F. necrophorum bacteremia associated with suppurative porto-mesenteric vein thrombosis (PVT following acute ruptured appendicitis. In addition, we list the documented twelve cases of Fusobacterium pylephlebitis. Recanalization of the porto-mesenteric veins and relief of the extrahepatic portal hypertension were achieved with early empiric antibiotic and local thrombolytic therapy. Our patient's case underscores the importance of recognizing Fusobacterium bacteremia as a possible cause of suppurative PVT after disruption of the gastrointestinal mucosa following an acute intraabdominal infectious process. Early treatment of this condition using anticoagulation and endovascular thrombolysis as adjunctive therapies may prevent PVT complications.

  13. Gastrointestinal variant of Lemierre's syndrome complicating ruptured appendicitis.

    Science.gov (United States)

    Akhrass, Fadi Al; Abdallah, Lina; Berger, Steven; Sartawi, Rami

    2015-01-01

    Fusobacterium necrophorum is a non-spore-forming, obligate anaerobic, filamentous, gramnegative bacillus that frequently colonizes the human oral cavity, respiratory tract, and gastrointestinal tract. Fusobacterium species have rarely been implicated in cases of gastrointestinal variant of Lemierre's syndrome. We describe a case of F. necrophorum bacteremia associated with suppurative porto-mesenteric vein thrombosis (PVT) following acute ruptured appendicitis. In addition, we list the documented twelve cases of Fusobacterium pylephlebitis. Recanalization of the porto-mesenteric veins and relief of the extrahepatic portal hypertension were achieved with early empiric antibiotic and local thrombolytic therapy. Our patient's case underscores the importance of recognizing Fusobacterium bacteremia as a possible cause of suppurative PVT after disruption of the gastrointestinal mucosa following an acute intraabdominal infectious process. Early treatment of this condition using anticoagulation and endovascular thrombolysis as adjunctive therapies may prevent PVT complications. PMID:26793462

  14. Mirizzi syndrome associated with hepatic artery pseudoaneurysm: a case report

    Directory of Open Access Journals (Sweden)

    Anderson Oliver

    2008-11-01

    Full Text Available Abstract Introduction This is the first case report of Mirizzi syndrome associated with hepatic artery pseudoaneurysm. Case presentation A 54-year-old man presented with painful obstructive jaundice and weight loss. Computed tomography showed a hilar mass in the liver. Following an episode of haemobilia, angiography demonstrated a pseudoaneurysm of a branch of the right hepatic artery that was embolised. At surgery, a gallstone causing Mirizzi type II syndrome was found to be responsible for the biliary obstruction and a necrotic inflammatory mass and haematoma were found to be extending into the liver. The mass was debrided and drained, the obstructing stones removed and the bile duct drained with a t-tube. The patient made a full recovery. Conclusion This case highlights another situation where there may be difficulty in differentiating Mirizzi syndrome from biliary tract cancer.

  15. Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype.

    Science.gov (United States)

    Gaines, Rick; Tinkle, Brad T; Halandras, Pegge M; Al-Nouri, Omar; Crisostomo, Paul; Cho, Jae S

    2015-04-01

    Unlike vascular Ehlers-Danlos syndrome (EDS), classic EDS is rarely associated with vascular manifestation. We report the case of a 39-year-old man who presented with acute abdominal pain. At the time of presentation, the patient was in hypovolemic shock, and computed tomography angiogram demonstrated common iliac artery dissection with rupture. He underwent an attempted endovascular repair that was converted to an open repair of a ruptured right common iliac artery dissection. Subsequent genetic testing revealed a substitution of arginine for cysteine in type I collagen, COL1A1 exon 14 c.934C>T mutation, consistent with a rare variant of classic EDS. PMID:25597651

  16. Ruptured cerebral aneurysm associated with a persistent primitive trigeminal artery variant

    Science.gov (United States)

    Yamamoto, Takahiro; Hasegawa, Yu; Ohmori, Yuki; Kawano, Takayuki; Kai, Yutaka; Morioka, Motohiro; Kuratsu, Jun-ichi

    2011-01-01

    Background: Primitive trigeminal artery variants (PTAVs) are one of the rare persistent fetal anastomoses between the carotid and vertebrobasilar circulations. They originate from the internal carotid artery and join one of the cerebellar arteries instead of the basilar artery. Case Description: We present an 82-year-old woman with subarachnoid hemorrhage due to a ruptured aneurysm originating at a PTAV. Three-dimensional computed tomography angiogram and cerebral angiography revealed bilateral PTAV and two aneurysms originating at the left PTAV. The proximal and distal aneurysms were saccular and fusiform, respectively. She underwent surgical treatment and her postoperative course was uneventful. Conclusion: Our case demonstrates that extremely rare cerebral aneurysms associated with PTAV can be addressed successfully by surgical intervention. PMID:22059121

  17. Arterial steal syndrom in patients after liver transplantation: transarterial embolization of the splenic and gastroduodenal arteries

    International Nuclear Information System (INIS)

    Purpose: To evaluate transaterial embolization of splenohepatic and gastroduodenal steal syndrome in patients with impaired liver function tests after liver transplantation. Methods and Material: In a prospective study 22 patients (10 male, 12 female; mean age 49.5 years) with unexplained elevation of hepatic enzymes after liver transplantation underwent transcatheter arterial embolization of splenohepatic (n = 18) and gastroduodenal (n = 4) steal syndrome with use of Gianturco coils or microcoils. Liver and spleen parenchyma were surveyed and evaluated before and after embolization with plain helical CT, including volumetry of liver and spleen. Results: DSA examinations revealed a dilated splenic artery (n = 18) or gastroduodenal artery (n = 4) combined with a slightly decreased perfusion of the hepatic arteries, while immediately after successful embolization a normal perfusion of the hepatic arteries could be noted. Volumetric measurements before and after embolization showed no significant changes in liver parenchyma (x = + 7% ± 2), and variable changes in splenic volume of - 5% to + 28% (mean, + 11%), with initial measurements. Clinical follow-up examinations revealed a normalization of the previously elevated hepatic enzymes and a normalization of liver function tests after successful embolization. Complications were observed in 4 patients (infarction of the spleen). Conclusions: The preliminary results reveal that in liver transplant candidates with splenohepatic and gastroduodenal steal syndrome successful embolization results in an improvement of organ perfusion with normalization of function tests. (orig.)

  18. A brainstem variant of reversible posterior leukoencephalopathy syndrome

    International Nuclear Information System (INIS)

    Reversible posterior leukoencephalopathy syndrome (RPLS) is caused by various heterogeneous factors, the commonest being hypertension, followed by nonhypertensive causes such as eclampsia, renal diseases and immunosuppressive therapy. Patients with RPLS exhibit bilateral white and gray matter abnormalities in the posterior aspects of the cerebral hemispheres. However, this syndrome may affect the brainstem predominantly, and these cases are designated as hypertensive brainstem encephalopathy. We present here two patients with reversible brainstem encephalopathy: one with hypertension and the other without hypertension. These patients presented with swelling and diffuse hyperintensities of the brainstem in fluid-attenuated inversion-recovery (FLAIR) and T2-weighted MRI, but with relatively mild clinical symptoms. They recovered without major neurological deficits, but had residual lacunar lesions in the pons. Reversible brainstem encephalopathy with characteristic MRI features was found in both hypertensive and nonhypertensive patients. These patients were diagnosed with a brainstem variant of RPLS, which is potentially fully reversible after an adequate treatment, and therefore should be carefully differentiated from other brainstem disease conditions. (orig.)

  19. Celiac artery disease and fatal rupture of a hepatic artery aneurysm in the Ehlers-Danlos syndrome.

    Science.gov (United States)

    Nat, Amritpal; George, Tanya; Mak, Gregory; Sharma, Amit; Nat, Amitpal; Lebel, Robert

    2014-04-01

    Isolated visceral arteriopathies of the celiac and hepatic artery are rare. We present a case of a Caucasian man who presented with abdominal pain and was found to have a spontaneous celiac artery dissection. Genetic analysis revealed a mutation consistent with Ehlers-Danlos syndrome type IV. The patient died 2 months later from a spontaneous rupture of his hepatic artery. PMID:24688192

  20. Celiac artery disease and fatal rupture of a hepatic artery aneurysm in the Ehlers-Danlos syndrome

    OpenAIRE

    Nat, Amritpal; George, Tanya; Mak, Gregory; Sharma, Amit; Nat, Amitpal; Lebel, Robert

    2014-01-01

    Isolated visceral arteriopathies of the celiac and hepatic artery are rare. We present a case of a Caucasian man who presented with abdominal pain and was found to have a spontaneous celiac artery dissection. Genetic analysis revealed a mutation consistent with Ehlers-Danlos syndrome type IV. The patient died 2 months later from a spontaneous rupture of his hepatic artery.

  1. Double-balloon remodeling for coil embolization of a primitive trigeminal artery variant aneurysm. A case report.

    Science.gov (United States)

    Takigawa, Tomoji; Suzuki, Kensuke; Sugiura, Yoshiki; Suzuki, Ryotaro; Takano, Issei; Shimizu, Nobuyuki; Tanaka, Yoshihiro; Hyodo, Akio

    2014-01-01

    Here we describe the case of a patient with a wide-necked unruptured aneurysm arising at origin of a persistent primitive trigeminal artery (PTA) variant from the right internal carotid artery (ICA), supplying the territory of the right superior cerebellar artery and the anterior inferior cerebellar artery. To preserve the ICA and the PTA variant, coil embolization of the aneurysm was performed using a double-balloon remodeling technique (HyperForm™ and HyperGlide™ Occlusion Balloon Systems; ev3 Endovascular Inc., Irvine, CA, USA). The association of a PTA variant with an aneurysm is very rare. To our knowledge, this is the first description of the use of coil embolization using double-balloon remodeling to treat a PTA variant aneurysm. This technique permits complete embolization and reduces the risk of cerebral and cerebellar ischemia. PMID:24976091

  2. Thrombosis of the persistent median artery as a cause of carpal tunnel syndrome - case study.

    Science.gov (United States)

    Rzepecka-Wejs, Ludomira; Multan, Aleksandra; Konarzewska, Aleksandra

    2012-12-01

    Carpal tunnel syndrome is the most frequent neuropathy of the upper extremity, that mainly occurs in manual workers and individuals, whose wrist is overloaded by performing repetitive precise tasks. In the past it was common among of typists, seamstresses and mechanics, but nowadays it is often caused by long hours of computer keyboard use. The patient usually complains of pain, hypersensitivity and paresthesia of his hand and fingers in the median nerve distribution. The symptoms often increase at night. In further course of the disease atrophy of thenar muscles is observed. In the past the diagnosis was usually confirmed in nerve conduction studies. Nowadays a magnetic resonance scan or an ultrasound scan can be used to differentiate the cause of the symptoms. The carpal tunnel syndrome is usually caused by compression of the median nerve passing under the flexor retinaculum due to the presence of structures reducing carpal tunnel area, such as an effusion in the flexor tendons sheaths (due to overload or in the course of rheumatoid diseases), bony anomalies, muscle and tendon variants, ganglion cysts or tumors. In some cases diseases of upper extremity vessels including abnormalities of the persistent median artery may also result in carpal tunnel syndrome. We present a case of symptomatic carpal tunnel syndrome caused by thrombosis of the persistent median artery which was diagnosed in ultrasound examination. The ultrasound scan enabled for differential diagnosis and resulted in an immediate referral to clinician, who recommended instant commencement on anticoagulant treatment. The follow-up observation revealed nearly complete remission of clinical symptoms and partial recanalization of the persistent median artery. PMID:26676173

  3. Variant course and branching of right brachial artery: a case study

    Directory of Open Access Journals (Sweden)

    Preeti Goswami

    2013-04-01

    Full Text Available A variant course and branching pattern of the right brachial artery was recorded in a 54-year-old male cadaver during the practical sessions of University College of Medical Sciences, Delhi, India. The right brachial artery divided in the middle third of arm into a medial superficial and lateral deep branch. The superficial medial branch descended anterior to the median nerve and ended by dividing in the cubital fossa into ulnar and radial arteries, whereas the lateral branch descended postero-medial to the median nerve, ending deep to pronator teres as the common interosseous artery. The left brachial artery showed a normal branching pattern by dividing into radial and ulnar arteries in the cubital fossa. The probable origin of such a variation is embryological and familiarity with such variations is imperative as they might affect dynamics of limb function or alter the course of interventional procedures. [Int J Res Med Sci 2013; 1(2.000: 62-65

  4. What else is hiding behind superior mesenteric artery syndrome?

    Science.gov (United States)

    De Angelis, Paola; Iacobelli, Barbara Daniela; Torroni, Filippo; Dall'Oglio, Luigi; Bagolan, Pietro; Fusaro, Fabio

    2015-01-01

    The superior mesenteric artery syndrome (SMAS) is an uncommon condition in children. We describe a case of a 7-year-old boy with SMAS that occurred 3 years after a Deloyers' procedure for subtotal colonic Hirschsprung who was admitted for bilious vomit, abdominal pain and diarrhea due to unrecognized celiac disease. This case emphasize that SMAS in children needs a close medical and surgical follow-up to avoid an underestimation of early clinical signs unrelated to surgery. PMID:25972411

  5. Superior Mesenteric Artery Syndrome: An Infrequent Complication of Scoliosis Surgery

    OpenAIRE

    Metin Keskin; Turgut Akgül; Adem Bayraktar; Fatih Dikici; Emre Balık

    2014-01-01

    Case Report Superior Mesenteric Artery Syndrome: An Infrequent Complication of Scoliosis Surgery Metin Keskin,1 Turgut Akgül,2 Adem Bayraktar,1 Fatih Dikici,2 and Emre BalJk3 1 General Surgery Department, Istanbul Faculty of Medicine, Istanbul University, Capa, Millet Caddesi, 34093 Istanbul, Turkey 2Orthopedic Department, Istanbul Faculty of Medicine, Istanbul University, Capa, Millet Caddesi, 34093 Istanbul, Turkey 3 General Surgery Department, School of Medicine, Koc¸ Uni...

  6. Anterior spinal artery syndrome of the cervical hemicord.

    Science.gov (United States)

    Baumgartner, R W; Waespe, W

    1992-01-01

    Three patients developed signs of a unilateral cervical cord lesion 6 to 36 h after the acute onset of severe cervico-brachial pain. The neurological deficit progressed over 6 to 18 h. On the painful side a central Horner's syndrome, a hemiparesis with plegia of the hand, and a slight pallhypaesthesia were found. On the opposite side thermhypaesthesia and hypalgesia were noted with a level at the dermatome C5 or C6. T2-weighted MR images revealed in one patient a small area of increased signal intensity restricted to one half of the cervical cord, and electromyography in another patient showed after 6 months evidence of segmental chronic denervation. Both abnormalities were found at the clinically expected level. The findings are consistent with a small infarction of the cervical cord in the perfusion territory of a central (sulco-commissural) artery, a duplicated anterior spinal artery or an anterior spinal branch of the vertebral artery. PMID:1315578

  7. White Matter Tract Damage in the Behavioral Variant of Frontotemporal and Corticobasal Dementia Syndromes

    OpenAIRE

    Tovar-Moll, Fernanda; de Oliveira-Souza, Ricardo; Bramati, Ivanei Edson; Zahn, Roland; Cavanagh, Alyson; Tierney, Michael; Moll, Jorge; Grafman, Jordan

    2014-01-01

    The phenotypes of the behavioral variant of frontotemporal dementia and the corticobasal syndrome present considerable clinical and anatomical overlap. The respective patterns of white matter damage in these syndromes have not been directly contrasted. Beyond cortical involvement, damage to white matter pathways may critically contribute to both common and specific symptoms in both conditions. Here we assessed patients with the behavioral variant of frontotemporal dementia and corticobasal sy...

  8. Miller Fisher syndrome: a rare variant of Guillain-Barré syndrome

    Directory of Open Access Journals (Sweden)

    Luciana Pinto Bandeira

    2012-12-01

    Full Text Available This report describes the case of a 39-year-old male patient who presented to the emergency room with complaints of impaired balance, diplopia, and nasal voice. The patient had a history of upper respiratory tract infection. The initial physical examination revealed ataxia, ophthalmoplegia, and areflexia, which are consistent with the classic triad of Miller Fisher syndrome, considered a benign variant of Guillain-Barré syndrome. The patient developed peripheral facial paralysis during hospitalization. He underwent a treatment with immunoglobulin for five days, resulting in near complete resolution of the ataxia. However, the ophthalmoplegia and areflexia persisted. He was discharged to outpatient follow-up.

  9. Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis

    DEFF Research Database (Denmark)

    Hinrichsen, Inga; Brieger, Angela; Trojan, Jörg; Zeuzem, Stefan; Nilbert, Mef; Plotz, Guido

    2013-01-01

    Lynch syndrome is caused by a germline mutation in a mismatch repair gene, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants with unclear clinical significance. The functionality of these variants can be tested in the laboratory, but the results c...

  10. Persistent hypoglossal artery and its variants diagnosed by CT and MR angiography

    International Nuclear Information System (INIS)

    Persistent hypoglossal artery (PHA) is the second most common anastomosis between the carotid and vertebrobasilar systems and demonstrates some variations. We evaluated the prevalence of PHA on computed tomography (CT) angiography. We also evaluated characteristic features of PHA and its variants on magnetic resonance (MR) angiography. We retrospectively reviewed our database of 2,074 CT angiographic images obtained using either of two 64-slice multidetector CT scanners. We also reviewed our database of 7,646 MR angiographic images obtained using either of two 1.5-T or one 3.0-T imager. We could not determine the exact number of patients whose MR angiography included the hypoglossal canal. Most patients had or were suspected of having cerebrovascular diseases. We found six usual PHAs arising from the cervical internal carotid artery on CT angiography among 2,074 patients. On MR angiography, we also found six additional usual PHAs (total 12, right/left = 6/6, male/female = 3/9), three right PHAs originating from the external carotid artery (ECA), and two posterior inferior cerebellar arteries (PICAs) arising from the ECA without connection to the vertebral artery. The prevalence of usual PHA diagnosed by CT angiography was 0.29 %, slightly higher than that reported for angiography and may be due to selection bias in the examined patients. We propose naming usual PHA ''type 1 PHA''; PHA originating from the ECA, of which we found three, ''type 2 PHA''; and PICA arising from the ECA, of which we found two, ''type 2 PHA variant''. (orig.)

  11. Personality factors and profiles in variants of irritable bowel syndrome

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    AIM: To study the association between irritable bowel syndrome (IBS) variants (constipation, diarrhea, or both)and personality traits in non-psychiatric patients.METHODS: 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. Personality traits and the score of each factor were evaluated using the NEO Five Factor Inventory.RESULTS: One hundred and fifty patients were studied.The mean age (±SD) was 33.4 (±11.0) year (62% female). Subjects scored higher in neuroticism (26.25±7.80 vs 22.92±9.54, P < 0.0005), openness (26.25±5.22 vs 27.94±4.87, P < 0.0005) and conscientiousness (32.90 ±7.80 vs 31.62±5.64, P < 0.01) compared to our general population derived from universities of Iran. Our studied population consisted of 71 patients with Diarrhea dominant-IBS, 33 with Constipation dominant-IBS and 46 with Altering type-IBS. Scores of conscientiousness and neuroticism were significantly higher in C-IBS compared to D-IBS and A-IBS (35.79±5.65 vs 31.95±6.80,P = 0.035 and 31.97±9.87, P = 0.043, respectively).Conscientiousness was the highest dimension of personality in each of the variants. Patients with C-IBS had almost similar personality profiles, composed of higher scores for neuroticism and conscientiousness, with low levels of agreeableness, openness and extraversion that were close to those of the general population.CONCLUSION: Differences were observed between IBS patients and the general population, as well as between IBS subtypes, in terms of personality factors.Patients with constipation-predominant IBS showed similar personality profiles. Patients with each subtype of IBS may benefit from psychological interventions, which can be focused considering the characteristics of each subtype.

  12. White Matter Tract Damage in the Behavioral Variant of Frontotemporal and Corticobasal Dementia Syndromes

    Science.gov (United States)

    Tovar-Moll, Fernanda; de Oliveira-Souza, Ricardo; Bramati, Ivanei Edson; Zahn, Roland; Cavanagh, Alyson; Tierney, Michael; Moll, Jorge; Grafman, Jordan

    2014-01-01

    The phenotypes of the behavioral variant of frontotemporal dementia and the corticobasal syndrome present considerable clinical and anatomical overlap. The respective patterns of white matter damage in these syndromes have not been directly contrasted. Beyond cortical involvement, damage to white matter pathways may critically contribute to both common and specific symptoms in both conditions. Here we assessed patients with the behavioral variant of frontotemporal dementia and corticobasal syndrome with whole-brain diffusion tensor imaging to identify the white matter networks underlying these pathologies. Twenty patients with the behavioral variant of frontotemporal dementia, 19 with corticobasal syndrome, and 15 healthy controls were enrolled in the study. Differences in tract integrity between (i) patients and controls, and (ii) patients with the corticobasal syndrome and the behavioral variant of frontotemporal dementia were assessed with whole brain tract-based spatial statistics and analyses of regions of interest. Behavioral variant of frontotemporal dementia and the corticobasal syndrome shared a pattern of bilaterally decreased white matter integrity in the anterior commissure, genu and body of the corpus callosum, corona radiata and in the long intrahemispheric association pathways. Patients with the behavioral variant of frontotemporal dementia showed greater damage to the uncinate fasciculus, genu of corpus callosum and forceps minor. In contrast, corticobasal syndrome patients had greater damage to the midbody of the corpus callosum and perirolandic corona radiata. Whereas several compact white matter pathways were damaged in both the behavioral variant of frontotemporal dementia and corticobasal syndrome, the distribution and degree of white matter damage differed between them. These findings concur with the distinctive clinical manifestations of these conditions and may improve the in vivo neuroanatomical and diagnostic characterization of these

  13. Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum

    Directory of Open Access Journals (Sweden)

    Jomol Sara John

    2013-01-01

    Full Text Available Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are variations. Here, we report a rare case of Moebius syndrome in a 15-month-old child with unilateral facial palsy, bilateral abducens nerve palsy with Dandy Walker variant, and complete agenesis of corpus callosum.

  14. Solitary intramuscular myxoma with monostotic fibrous dysplasia as a rare variant of Mazabraud's syndrome

    International Nuclear Information System (INIS)

    The rare coexistence of intramuscular myxoma (IM) and fibrous dysplasia (FD) is known as Mazabraud's syndrome. IM tends to occur multifocally and is associated most frequently with polyostotic FD in Mazabraud's syndrome. We present an extremely rare combination of a solitary IM and monostotic FD as a variant of Mazabraud's syndrome, and discuss the importance of recognizing this rare coexistence for appropriate management of the patient. (orig.)

  15. A case of type I variant Kounis syndrome with Samter-Beer triad

    OpenAIRE

    Prajapati, Jayesh S; Virpariya, Kapil M; Thakkar, Ashok S.; Abhyankar, Atul D.

    2013-01-01

    Kounis syndrome is defined as the coexistence of acute coronary syndromes with situations associated with allergy or hypersensitivity, as well as anaphylactic or anaphylactoid reactions, to a variety of medical conditions, environmental and medication exposures. We report a case of Kounis-Zavras syndrome type I variant in the setting of aspirin-induced asthma, or the Samter-Beer triad of asthma, nasal polyps and aspirin allergy. When there is a young individual with no predisposing factors of...

  16. Prevalence of Congenital Coronary Artery Anomalies and Variants in 2697 Consecutive Patients Using 64-Detector Row Coronary CTAngiography

    Directory of Open Access Journals (Sweden)

    Farzaneh Fattahi Masrour

    2012-01-01

    Full Text Available Background: Coronary artery anomalies are not common, but could be very serious.Objectives: This study determines the frequency of coronary anomalies and normal variants by multi-detector-row computed tomography (MDCT.Patients and Methods: The results of cardiac MDCT study in 2697 consecutive patients were analyzed retrospectively. Acquisition was performed by a 64-detector row CT machine. Imaging results were assessed by experienced radiologists.Results: Myocardial bridging was by far the most frequent coronary variant (n = 576, 21.3%. Eighty-three subjects (3.1% showed other coronary anomalies and variants. Anomalies of origination and course of the left main coronary artery (LMCA were detected in 1.09% of the subjects. The frequency of these anomalies in the right coronary artery (RCA, left circumflex artery (LCx, left anterior descending artery (LAD, posterior descending artery (PDA and obtuse marginal (OM artery were 1.24%, 0.33%, 0.1%, 0.07% and 0.03%, respectively. The single coronary pattern was seen in 0.18% and coronary fistulas in 0.07%.Conclusion: Based on the fact that coronary CT-angiography using MDCT can display different coronary anomalies, this study shows similar results to other reports on the subject. Future advances in the performance of CT machines will further improve the quality of CT-based cardiac imaging.Keywords: Coronary Artery Disease,Tomography,X-Ray Computed,Patients

  17. Pulmonary Arterial Stent Implantation in an Adult with Williams Syndrome

    International Nuclear Information System (INIS)

    We report a 38-year-old patient who presented with pulmonary hypertension and right ventricular dysfunction due to pulmonary artery stenoses as a manifestation of Williams syndrome, mimicking chronic thromboembolic pulmonary hypertension. The patient was treated with balloon angioplasty and stent implantation. Short-term follow-up showed a good clinical result with excellent patency of the stents but early restenosis of the segments in which only balloon angioplasty was performed. These stenoses were subsequently also treated successfully by stent implantation. Stent patency was observed 3 years after the first procedure

  18. Prevalence of Congenital Coronary Artery Anomalies and Variants in 2697 Consecutive Patients Using 64-Detector Row Coronary CTAngiography

    International Nuclear Information System (INIS)

    Coronary artery anomalies are not common, but could be very serious. This study determines the frequency of coronary anomalies and normal variants by multi-detector-row computed tomography (MDCT). The results of cardiac MDCT study in 2697 consecutive patients were analyzed retrospectively. Acquisition was performed by a 64-detector row CT machine. Imaging results were assessed by experienced radiologists. Myocardial bridging was by far the most frequent coronary variant (n = 576, 21.3%). Eighty-three subjects (3.1%) showed other coronary anomalies and variants. Anomalies of origination and course of the left main coronary artery (LMCA) were detected in 1.09% of the subjects. The frequency of these anomalies in the right coronary artery (RCA), left circumflex artery (LCx), left anterior descending artery (LAD), posterior descending artery (PDA) and obtuse marginal (OM) artery were 1.24%, 0.33%, 0.1%, 0.07% and 0.03%, respectively. The single coronary pattern was seen in 0.18% and coronary fistulas in 0.07%. Based on the fact that coronary CT-angiography using MDCT can display different coronary anomalies, this study shows similar results to other reports on the subject. Future advances in the performance of CT machines will further improve the quality of CT-based cardiac imaging

  19. Arterial tortuosity syndrome : Clinical and molecular findings in 12 newly identified families

    NARCIS (Netherlands)

    Callewaert, B. L.; Willaert, A.; Kerstjens-Frederikse, W. S.; De Backer, J.; Devriendt, K.; Albrecht, B.; Ramos-Arroyo, M. A.; Doco-Fenzy, M.; Hennekam, R. C. M.; Pyeritz, R. E.; Krogmann, O. N.; Gillessen-kaesbach, G.; Wakeling, E. L.; Nik-zainal, S.; Francannet, C.; Mauran, P.; Booth, C.; Barrow, M.; Dekens, R.; Loeys, B. L.; Coucke, P. J.; De Paepe, A. M.

    2008-01-01

    Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease, characterized by widespread arterial involvement with elongation, tortuosity, and aneurysms of the large and middle-sized arteries. Recently, SLC2A10 mutations were identified in this condition. This gene enc

  20. A case of type I variant Kounis syndrome with Samter-Beer triad.

    Science.gov (United States)

    Prajapati, Jayesh S; Virpariya, Kapil M; Thakkar, Ashok S; Abhyankar, Atul D

    2013-04-26

    Kounis syndrome is defined as the coexistence of acute coronary syndromes with situations associated with allergy or hypersensitivity, as well as anaphylactic or anaphylactoid reactions, to a variety of medical conditions, environmental and medication exposures. We report a case of Kounis-Zavras syndrome type I variant in the setting of aspirin-induced asthma, or the Samter-Beer triad of asthma, nasal polyps and aspirin allergy. When there is a young individual with no predisposing factors of atherosclerosis and apparent coronary lesion, with or without electrocardiography and biochemical markers of infarction, the possibility of Kounis syndrome should be kept in mind. PMID:23675559

  1. A case of type I variant Kounis syndrome with Samter-Beer triad

    Directory of Open Access Journals (Sweden)

    Jayesh S Prajapati

    2013-01-01

    Full Text Available Kounis syndrome is defined as the coexistence of acute coronary syndromes with situations associated with allergy or hypersensitivity, as well as anaphylactic or anaphylactoid reactions, to a variety of medical conditions, environmental and medication exposures. We report a case of Kounis-Zavras syndrome type I variant in the setting of aspirin-induced asthma, or the Samter-Beer triad of asthma, nasal polyps and aspirin allergy. When there is a young individual with no predisposing factors of atherosclerosis and apparent coronary lesion, with or without electrocardiography and biochemical markers of infarction, the possibility of Kounis syndrome should be kept in mind.

  2. Pulmonary arterial hypertension (ascites syndrome) in broilers: a review.

    Science.gov (United States)

    Wideman, R F; Rhoads, D D; Erf, G F; Anthony, N B

    2013-01-01

    Pulmonary arterial hypertension (PAH) syndrome in broilers (also known as ascites syndrome and pulmonary hypertension syndrome) can be attributed to imbalances between cardiac output and the anatomical capacity of the pulmonary vasculature to accommodate ever-increasing rates of blood flow, as well as to an inappropriately elevated tone (degree of constriction) maintained by the pulmonary arterioles. Comparisons of PAH-susceptible and PAH-resistant broilers do not consistently reveal differences in cardiac output, but PAH-susceptible broilers consistently have higher pulmonary arterial pressures and pulmonary vascular resistances compared with PAH-resistant broilers. Efforts clarify the causes of excessive pulmonary vascular resistance have focused on evaluating the roles of chemical mediators of vasoconstriction and vasodilation, as well as on pathological (structural) changes occurring within the pulmonary arterioles (e.g., vascular remodeling and pathology) during the pathogenesis of PAH. The objectives of this review are to (1) summarize the pathophysiological progression initiated by the onset of pulmonary hypertension and culminating in terminal ascites; (2) review recent information regarding the factors contributing to excessively elevated resistance to blood flow through the lungs; (3) assess the role of the immune system during the pathogenesis of PAH; and (4) present new insights into the genetic basis of PAH. The cumulative evidence attributes the elevated pulmonary vascular resistance in PAH-susceptible broilers to an anatomically inadequate pulmonary vascular capacity, to excessive vascular tone reflecting the dominance of pulmonary vasoconstrictors over vasodilators, and to vascular pathology elicited by excessive hemodynamic stress. Emerging evidence also demonstrates that the pathogenesis of PAH includes characteristics of an inflammatory/autoimmune disease involving multifactorial genetic, environmental, and immune system components. Pulmonary

  3. Variants in the Adiponectin Gene and Serum Adiponectin: The Coronary Artery Development in Young Adults (CARDIA) Study

    Science.gov (United States)

    Wassel, Christina L.; Pankow, James S.; Jacobs, David R.; Steffes, Michael W.; Li, Na; Schreiner, Pamela J.

    2016-01-01

    Circulating adiponectin is involved in the atherosclerotic process and has been associated with cardiovascular disease as well as obesity, insulin resistance, metabolic syndrome, and type 2 diabetes. The adiponectin gene (ADIPOQ) encodes the circulating protein adiponectin and affects its expression. Only a small proportion of all known ADIPOQ polymorphisms have been investigated in relation to circulating adiponectin concentrations. Using data from 3,355 African-American and white men and women aged 33–45 at the year 15 examination from the Coronary Artery Development in Young Adults (CARDIA) Study the association between 10 single-nucleotide polymorphisms (SNPs) within ADIPOQ and serum adiponectin was examined using linear regression. SNPs were chosen based on a tagSNP approach. Models were stratified by self-reported race to control for population stratification, and Bonferroni corrected for multiple comparisons. ADIPOQ SNPs rs17300539 (P Significant interactions were found between waist and rs182052 (P = 0.0029) and between rs9882505 and smoking (P = 0.001) in whites. Many ADIPOQ SNPs have not yet been examined, and additional studies are needed to determine whether these may be functional variants. PMID:20395949

  4. Down syndrome with microgranular variant of acute promyelocytic leukemia in a child: a case report

    Directory of Open Access Journals (Sweden)

    Jain Deepali

    2007-11-01

    Full Text Available Abstract Background Acute promyelocytic leukemia (APL accounts for less than 10% of pediatric AML. Cases of APL in Down syndrome (DS have been described in the literature rarely and it is rarer still to find the microgranular variant (M3v of APL in trisomy 21 patients. Case presentation We present a case of a five-year-old female with Down syndrome diagnosed with acute promyelocytic leukemia (APL. She came to our hospital with bleeding manifestations. Blood and bone marrow examination revealed promyelocytes showing a few fine granules and occasional Auer rods. Based on this morphology and cytochemistry, a diagnosis of APL microgranular variant (M3v was made. Conclusion This case report emphasizes the importance of a high index of suspicion in the diagnosis of acute promyelocytic leukemia microgranular variant in Down syndrome.

  5. Association of vitamin D receptor gene variants with polycystic ovary syndrome: A case control study

    OpenAIRE

    Touraj Mahmoudi; Keivan Majidzadeh-A; Hamid Farahani; Mojgan Mirakhorli; Reza Dabiri; Hossein Nobakht; Asadollah Asadi

    2015-01-01

    Background: Vitamin D and insulin play an important role in susceptibility to polycystic ovary syndrome (PCOS), and therefore vitamin D receptor (VDR), parathyroid hormone (PTH), and insulin receptor (INSR) gene variants might be involved in the pathogenesis of PCOS. Objective: The present study was designed to investigate the possible associations between polymorphisms in VDR, PTH, and INSR genes and the risk of PCOS. Materials and Methods: VDR, PTH, and INSR gene variants were genoty...

  6. Association of vitamin D receptor gene variants with polycystic ovary syndrome: A case control study

    OpenAIRE

    Mahmoudi, Touraj; Majidzadeh-A, Keivan; Farahani, Hamid; Mirakhorli, Mojgan; Dabiri, Reza; Nobakht, Hossein; Asadi, Asadollah

    2015-01-01

    Background: Vitamin D and insulin play an important role in susceptibility to polycystic ovary syndrome (PCOS), and therefore vitamin D receptor (VDR), parathyroid hormone (PTH), and insulin receptor (INSR) gene variants might be involved in the pathogenesis of PCOS. Objective: The present study was designed to investigate the possible associations between polymorphisms in VDR, PTH, and INSR genes and the risk of PCOS. Materials and Methods: VDR, PTH, and INSR gene variants were genotyped in ...

  7. Tetralogy of Fallot variant with pulmonary atresia (pseudotruncus arteriosus) in a case of maternal PKU syndrome.

    Science.gov (United States)

    Pavone, P; Praticò, A D; Bianca, I; Raffaele, R; Vecchio, I; Salafia, S; Praticò, E R; Incorpora, G

    2012-10-01

    The authors report on a child with a rare variant of the Tetralogy of Fallot with pulmonary atresia also known as Pseudotruncus arteriosus, who was born by a mother affected by classic phenylketonuria (PKU), diet free of phenylalanine until the age of seven years. According to the authors, this is the first example of such rare variant in an offspring of maternal PKU syndrome. PMID:22992535

  8. Arterial tortuosity syndrome in two Italian paediatric patients

    Directory of Open Access Journals (Sweden)

    Prioli Maria

    2009-09-01

    Full Text Available Abstract Background Arterial tortuosity syndrome (ATS (OMIM #208050 is a rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries, propensity to aneurysms formation, vascular dissection, and pulmonary arteries stenosis. ATS is caused by mutations in SLC2A10 gene, encoding for the facilitative glucose transporter 10 (GLUT10. So far, 17 SLC2A10 mutations have been reported in 32 families, two of which were Italian with a total of five patients. Here we present the clinical and molecular characterization of two novel Italian paediatric ATS patients. Methods The exons and intronic flanking regions of SLC2A10 gene were amplified and direct sequencing was performed. Results In both patients, the involvement of major- and medium-sized arteries was characteristic; the nonvascular connective tissue manifestations were mild and not pathognomic of the disorder. Both patients, born from non-consanguineous parents, were heterozygous for two different SLC2A10 mutations, three of which were recurrent and one was novel (p.Arg231Trp. This mutation is localized at the endofacial loop between the transmembrane domains 6 and 7 of GLUT10. Conclusion Two novel ATS patients were characterized at clinical and molecular level. Overall, four ATS unrelated families are known in Italy so far. Though ATS clinical delineation improved in the last years, further works in the comprehension of disease presentation and complications onset, particularly in paediatric age, and on ATS molecular basis are needed to add new insights for diagnosis and prevention strategies for related complications.

  9. High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome

    International Nuclear Information System (INIS)

    Loeys-Dietz syndrome (LDS) is a connective tissue disease caused by mutations in the genes encoding the transforming growth factor-β receptor (TGFBR). LDS is associated with aneurysms or dissections of the aorta similar to Marfan syndrome (MFS) as well as arterial tortuosity and aneurysms in the peripheral arteries. The purpose of this study was to evaluate the arterial diseases of LDS to differentiate it from MFS. A total of 10 LDS patients with an identified mutation in TGFBR (6 male, 4 female; mean age 36.3 years) and 20 MFS patients with an identified mutation in fibrilin-1 who were age- and sex-matched to the LDS subjects (12 male, 8 female; mean age 37.1 years) were reviewed. The prevalence of vertebral arterial tortuosity (VAT) and peripheral aneurysm (PAN) was studied using computed tomography angiography. In all, 9 of the 10 LDS patients had VAT, and five PANs were observed in 3 patients. In contrast, 8 (40%) of the MFS patients had VAT, and 1 patient had a PAN. LDS had a higher prevalence of VAT (P=0.017) by Fisher's exact test. The VAT was highly prevalent among LDS patients. Thus, the presence of VAT has the potential to differentiate LDS from MFS. (author)

  10. Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea

    OpenAIRE

    Yoon, Je Moon; Jang, Mi-Ae; Ki, Chang-Seok; Kim, Sang Jin

    2015-01-01

    Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced exon 2 mutation of COL2A1. We report the cases of two Korean families with OSTL1 carrying likely pathogenic variants of COL2A1. All patients presented with membranous vitreous anomaly, peripheral ret...

  11. Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

    DEFF Research Database (Denmark)

    Nioi, Paul; Sigurdsson, Asgeir; Thorleifsson, Gudmar; Helgason, Hannes; Agustsdottir, Arna B; Norddahl, Gudmundur L; Helgadottir, Anna; Magnusdottir, Audur; Jonasdottir, Aslaug; Gretarsdottir, Solveig; Jonsdottir, Ingileif; Steinthorsdottir, Valgerdur; Rafnar, Thorunn; Swinkels, Dorine W; Galesloot, Tessel E; Grarup, Niels; Jørgensen, Torben; Vestergaard, Henrik; Hansen, Torben; Lauritzen, Torsten; Linneberg, Allan; Friedrich, Nele; Krarup, Nikolaj T; Fenger, Mogens; Abildgaard, Ulrik; Hansen, Peter R; Galløe, Anders M; Braund, Peter S; Nelson, Christopher P; Hall, Alistair S; Williams, Michael J A; van Rij, Andre M; Jones, Gregory T; Patel, Riyaz S; Levey, Allan I; Hayek, Salim; Shah, Svati H; Reilly, Muredach; Eyjolfsson, Gudmundur I; Sigurdardottir, Olof; Olafsson, Isleifur; Kiemeney, Lambertus A; Quyyumi, Arshed A; Rader, Daniel J; Kraus, William E; Samani, Nilesh J; Pedersen, Oluf; Thorgeirsson, Gudmundur; Masson, Gisli; Holm, Hilma; Gudbjartsson, Daniel; Sulem, Patrick; Thorsteinsdottir, Unnur; Stefansson, Kari

    2016-01-01

    codon that renders a truncated protein prone to degradation. Heterozygous carriers of the mutation (1 in 120 persons in our study population) had a lower level of non-HDL cholesterol than noncarriers, a difference of 15.3 mg per deciliter (0.40 mmol per liter) (P=1.0×10(-16)), and a lower risk of...... coronary artery disease (by 34%; 95% confidence interval, 21 to 45; P=4.0×10(-6)). In a larger set of sequenced samples from Icelanders, we found another loss-of-function ASGR1 variant (p.W158X, carried by 1 in 1850 persons) that was also associated with lower levels of non-HDL cholesterol (P=1...

  12. Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome

    Science.gov (United States)

    Marschik, Peter B.; Einspieler, Christa; Oberle, Andreas; Laccone, Franco; Prechtl, Heinz F. R.

    2009-01-01

    The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand…

  13. Variants in 9p21 Predicts Severity of Coronary Artery Disease in a Chinese Han Population.

    Science.gov (United States)

    Jing, Jinjin; Su, Li; Zeng, Ying; Tang, Xiaojun; Wei, Jie; Wang, Long; Zhou, Li

    2016-09-01

    Recent genome-wide association studies identified the common genetic variants in 9p21 were associated with the coronary artery disease (CAD). However, whether this locus could predict the severity of CAD in Chinese Han population is unclear. 499 CAD patients who underwent coronary angiography (CAG) have been enrolled for this study. The single-nucleotide polymorphisms rs2383207 and rs2383206 in 9p21 were genotyped in 499 CAG cases and 1519 controls in Chinese Han population. The gene dosage of 9p21 was stratified by the degree of vascular lesions and tested for association with the severity of CAD. Rs2383207 and rs2383206 demonstrated significant associations with 2-vessel and 3-vessel disease (P = 2.0×10(-3) and 1.9×10(-4) , respectively). GG genotypes of rs2383206 occurred higher proportion of left main trunk (LM) disease (P = 6.0×10(-3) ). GG genotypes of rs2383207 occurred higher proportion of left anterior descending artery disease (LAD) and right CAD (RCA) (P = 2.7×10(-6) and 1.6×10(-4) , respectively). The risk allele G of rs2383207 was associated with severity of CAD estimated by the Gensini score (P = 3.6×10(-5) ). Rs2383207 may strongly influence the development of CAD in Chinese Han population. The gene dosage in 9p21 could predict the severity of CAD. PMID:27461153

  14. Renal thrombotic microangiopathy and FIP1L1/PDGFRα-associated myeloproliferative variant of hypereosinophilic syndrome

    OpenAIRE

    Langlois, Anne Lyse; Shehwaro, Nathalie; Rondet, Claire; Benbrik, Youssef; Maloum, Karim; Gueutin, Victor; Rouvier, Philippe; Izzedine, Hassane

    2013-01-01

    We report a case of renal thrombotic microangiopathy (TMA) in a myeloproliferative variant of hypereosinophilic syndrome (HES) in a 24-year-old man which resolved with imatinib therapy. This is one of a few cases in the literature to date describing TMA in HES, suggesting that the pathogenesis of thrombosis is at least in part related to damage from activated eosinophils.

  15. Renal thrombotic microangiopathy and FIP1L1/PDGFRα-associated myeloproliferative variant of hypereosinophilic syndrome

    Science.gov (United States)

    Langlois, Anne Lyse; Shehwaro, Nathalie; Rondet, Claire; Benbrik, Youssef; Maloum, Karim; Gueutin, Victor; Rouvier, Philippe; Izzedine, Hassane

    2013-01-01

    We report a case of renal thrombotic microangiopathy (TMA) in a myeloproliferative variant of hypereosinophilic syndrome (HES) in a 24-year-old man which resolved with imatinib therapy. This is one of a few cases in the literature to date describing TMA in HES, suggesting that the pathogenesis of thrombosis is at least in part related to damage from activated eosinophils. PMID:27293571

  16. High prevalence of genetic variants previously associated with Brugada syndrome in new exome data

    DEFF Research Database (Denmark)

    Risgaard, B; Jabbari, R; Refsgaard, L;

    2013-01-01

    More than 300 variants in 12 genes have been associated with Brugada syndrome (BrS) which has a prevalence ranging between 1:2000 and 1:100,000. Until recently, there has been little knowledge regarding the distribution of genetic variations in the general population. This problem was partly solved...

  17. A rare variant in MYH6 is associated with high risk of sick sinus syndrome

    DEFF Research Database (Denmark)

    Holm, Hilma; Gudbjartsson, Daniel F; Sulem, Patrick; Masson, Gisli; Helgadottir, Hafdis Th; Zanon, Carlo; Magnusson, Olafur Th; Helgason, Agnar; Saemundsdottir, Jona; Gylfason, Arnaldur; Stefansdottir, Hrafnhildur; Gretarsdottir, Solveig; Matthiasson, Stefan E; Thorgeirsson, Gu Mundur; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Stefansson, Hreinn; Werge, Thomas; Rafnar, Thorunn; Kiemeney, Lambertus A; Parvez, Babar; Muhammad, Raafia; Roden, Dan M; Darbar, Dawood; Thorleifsson, Gudmar; Walters, G Bragi; Kong, Augustine; Thorsteinsdottir, Unnur; Arnar, David O; Stefansson, Kari

    2011-01-01

    Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene, MYH6, encoding the alpha heavy chain subunit of cardiac myosin. A missense variant in this gene, c.......2161C>T, results in the conceptual amino acid substitution p.Arg721Trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio = 12.53 and P = 1.5 × 10(-29). We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for...

  18. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?

    OpenAIRE

    Shakiba, Marjan; Habibe NEZHAD BIEGLARI; Mohammad Reza ALAEE

    2013-01-01

    How to cite this article: Shakiba M, Nejad Biglari H, Alaee MR. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?Iran J Child Neurol Autumn 2012; 6(4): 51-54.  Abstract Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD), Mohr syndrome and Joubert syndrome. We report a patient who was referred to us becaus...

  19. Superior mesenteric artery syndrome secondary to brucellosis — A case report

    OpenAIRE

    Prasad, Seetharam; Lingadakai, Ramachandra; Chethan, Kishanchand; Abdul, Zeeshan

    2010-01-01

    Superior mesenteric artery (SMA) syndrome is a rare condition characterized by duodenal obstruction due to extrinsic compression by SMA. Any condition which results in rapid, significant weight loss can cause SMA syndrome. Brucellosis is a common cause of pyrexia of unknown origin which can result in loss of appetite and weight loss. Brucellosis resulting in SMA syndrome has not been described in literature. We present a case of SMA syndrome resulting from weight loss due to brucellosis along...

  20. Thrombotic occlusion of the ostial left main coronary artery in a patient with acute coronary syndrome

    OpenAIRE

    Tatli, E.

    2009-01-01

    Ostial left main coronary artery (LMCA) occlusion is rarely seen in patients with acute coronary syndrome. Acute coronary syndrome resulting from an LMCA occlusion is associated with a significant morbidity and mortality rate, if it is managed with fibrinolysis. Electrocardiography can predict LMCA occlusion in patients with acute coronary syndrome. We report a 52-year-old male who presented with acute coronary syndrome and ostial LMCA occlusion. (Neth Heart J 2009;17:295-6.19789699)

  1. High-Risk Acute Coronary Syndrome in a Patient with Coronary Subclavian Steal Syndrome Secondary to Critical Subclavian Artery Stenosis

    Directory of Open Access Journals (Sweden)

    Zaher Fanari

    2014-01-01

    Full Text Available Patients with multivessel coronary artery disease are more likely to have extensive atherosclerosis that involves other major arteries. Critical subclavian artery (SCA stenosis can result in coronary subclavian steal syndrome that may present as recurrent ischemia and even myocardial infarction in patients with coronary artery bypass graft (CABG. In patients with concomitant severe native coronary disease, occluded saphenous venous grafts (SVG to other arteries, percutaneous intervention on critical subclavian artery (SCA stenosis that will compromise the blood flow to left internal mammary graft (LIMA and left anterior descending (LAD artery will be a high-risk procedure and may be associated with cardiogenic shock, especially in patients with preexisting ischemic cardiomyopathy. The use of percutaneous left ventricular (LV assist device like Impella will offer better hemodynamic support and coronary perfusion and therefore results in decreased myocardial damage, maximized residual cardiac function, and lower incidence of cardiogenic shock.

  2. Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.

    Science.gov (United States)

    Thauvin-Robinet, C; Duplomb-Jego, L; Limoge, F; Picot, D; Masurel, A; Terriat, B; Champilou, C; Minot, D; St-Onge, J; Kuentz, P; Duffourd, Y; Thevenon, J; Rivière, J-B; Faivre, L

    2016-05-01

    The acidic fibroblast growth factor (FGF) intracellular binding protein (FIBP) interacts directly with the fibroblast growth factor FGF1. Although FIBP is known to be implicated in the FGF signaling pathway, its precise function remains unclear. Gain-of-function variants in several FGF receptors (FGFRs) are implicated in a wide spectrum of growth disorders from achondroplasia to overgrowth syndromes. In a unique case from a consanguineous union presenting with overgrowth, macrocephaly, retinal coloboma, large thumbs, severe varicose veins and learning disabilities, exome sequencing identified a homozygous nonsense FIBP variant. The patient's fibroblasts exhibit FIBP cDNA degradation and an increased proliferation capacity compared with controls. The phenotype defines a new multiple congenital abnormalities (MCA) syndrome, overlapping with the heterogeneous group of overgrowth syndromes with macrocephaly. The different clinical features can be explained by the alteration of the FGFR pathway. Taken together, these results suggest the implication of FIBP in a new autosomal recessive MCA. PMID:26660953

  3. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

    OpenAIRE

    Ellaway, Carolyn J.; Ho, Gladys; Bettella, Elisa; Knapman, Alisa; Collins, Felicity; Hackett, Anna; McKenzie, Fiona; Darmanian, Artur; Peters, Gregory B.; Fagan, Kerry; Christodoulou, John

    2012-01-01

    Rett syndrome is a clinically defined neurodevelopmental disorder almost exclusively affecting females. Usually sporadic, Rett syndrome is caused by mutations in the X-linked MECP2 gene in ∼90–95% of classic cases and 40–60% of individuals with atypical Rett syndrome. Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated with the congenital Rett syndrome variant. We report the clinical features and ar...

  4. Bland-White-Garland syndrome of anomalous left coronary artery arising from the pulmonary artery (ALCAPA): a historical review

    Energy Technology Data Exchange (ETDEWEB)

    Cowles, Robert A. [Morgan Stanley Children' s Hospital of New York-Presbyterian, Division of Pediatric Surgery,Columbia University College of Physicians and Surgeons, New York, NY (United States); Berdon, Walter E. [Morgan Stanley Children' s Hospital of New York-Presbyterian, Department of Pediatric Radiology, Columbia University College of Physicians and Surgeons, New York, NY (United States)

    2007-09-15

    The landmark 1933 case report from Massachusetts General Hospital by Bland, White and Garland (Am Heart J 8:787-801) described a 3-month-old child with progressive feeding problems, cardiomegaly on chest radiography, and EKG evidence of left ventricular damage. Of interest was the fact that the vigilant father of the infant was Aubrey Hampton, a radiologist and future chairman of radiology at Massachusetts General Hospital. At autopsy, the left coronary artery originated from the pulmonary artery rather than from the aorta. Effective treatment for this condition was not available until 1960 when Sabiston, Neill and Taussig showed that the blood flowed from the left coronary artery toward the pulmonary artery. The anomalous left coronary artery was ligated at its junction with the pulmonary artery and the child survived. This historical review of Bland-White-Garland syndrome, now known as anomalous left coronary artery arising from the pulmonary artery (ALCAPA), stresses the continued diagnostic significance of cardiomegaly on chest radiography and EKG changes suggesting left ventricular damage in 2- to 3-month-old infants with feeding intolerance or irritability. With a high index of suspicion, an echocardiogram can be obtained to confirm the diagnosis. Modern surgical methods involve left coronary artery translocation and afford excellent outcomes. (orig.)

  5. Bland-White-Garland syndrome of anomalous left coronary artery arising from the pulmonary artery (ALCAPA): a historical review

    International Nuclear Information System (INIS)

    The landmark 1933 case report from Massachusetts General Hospital by Bland, White and Garland (Am Heart J 8:787-801) described a 3-month-old child with progressive feeding problems, cardiomegaly on chest radiography, and EKG evidence of left ventricular damage. Of interest was the fact that the vigilant father of the infant was Aubrey Hampton, a radiologist and future chairman of radiology at Massachusetts General Hospital. At autopsy, the left coronary artery originated from the pulmonary artery rather than from the aorta. Effective treatment for this condition was not available until 1960 when Sabiston, Neill and Taussig showed that the blood flowed from the left coronary artery toward the pulmonary artery. The anomalous left coronary artery was ligated at its junction with the pulmonary artery and the child survived. This historical review of Bland-White-Garland syndrome, now known as anomalous left coronary artery arising from the pulmonary artery (ALCAPA), stresses the continued diagnostic significance of cardiomegaly on chest radiography and EKG changes suggesting left ventricular damage in 2- to 3-month-old infants with feeding intolerance or irritability. With a high index of suspicion, an echocardiogram can be obtained to confirm the diagnosis. Modern surgical methods involve left coronary artery translocation and afford excellent outcomes. (orig.)

  6. A case of William's syndrome associated peripheral pulmonary arterial stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Kyung Hwa; Hwang, Mi Soo; Kim, Sun Yong; Chang, Jae Chun; Park, Bok Hwan [College of Medicine, Yeungam University, Daegu (Korea, Republic of)

    1988-06-15

    William's syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that 'infantile hypercalcemia', 'peculiar facies' and 'supravalvular aortic stenosis.' In has other many vascular anomalies, such as peripheral pulmonary arterial stenosis, coronary arterial stenosis, celiac arterial stenosis, and renal aterial stenosis. Only 32% of the patients have evidence of supravalvular aortic stenosis. And it is very rare disease entity that has been reported rarely in Korea. Recently authors experienced a case that was questioned William's syndrome with peripheral pulmonary arterial stenosis, clinically and preliminary radiologically and this case was confirmed by operation. Here we report a case of William's syndrome with peripheral pulmonary arterial stenosis and reviewed literatures.

  7. Continuous regional arterial infusion and laparotomic decompression for severe acute pancreatitis with abdominal compartment syndrome

    OpenAIRE

    2011-01-01

    AIM: To evaluate the therapeutic effects of abdominal decompression plus continuous regional arterial infusion (CRAI) via a drug delivery system (DDS) in severe acute pancreatitis (SAP) patients with abdominal compartment syndrome (ACS).

  8. Persistent trigeminal artery feeding a hemispheric branch of the posterior inferior cerebellar artery: a rare anatomic variant.

    Science.gov (United States)

    Perot, G; Clarençon, F; Di Maria, F; Sourour, N; Biondi, A; Cornu, P; Chiras, J

    2011-10-01

    Persistent trigeminal artery is a rare persistent carotid-basilar anastomosis that usually connect the infracavernous segment of the ICA with the basilar artery. Rarely, PTA may feed cerebellar artery. We describe an exceptional case of PTA terminating in postero-inferior cerebellar artery (PICA) hemispheric branch. Angiographic and CTA features are presented and hypotheses regarding developmental origin of this variation are discussed. PMID:21492937

  9. Massive pulmonary artery thrombosis with haemoptysis in adults with Eisenmenger’s syndrome: a clinical dilemma

    OpenAIRE

    Broberg, C.; Ujita, M.; Babu-Narayan, S.; Rubens, M; S.K. Prasad; GIBBS J.S.R.; Gatzoulis, M. A.

    2004-01-01

    Although the frequency of haemoptysis in Eisenmenger’s syndrome is well recognised, the high prevalence of pulmonary artery thrombus has been newly appreciated through the growing use of non-invasive imaging. Three patients with Eisenmenger’s syndrome with haemoptysis are reported who underwent computed tomography pulmonary angiography and cardiovascular magnetic resonance. Each patient was found to have aneurysmal dilatation of the right pulmonary artery with large laminar thrombus. These ca...

  10. Pulmonary artery dissection in a patient with Eisenmenger syndrome treated with heart and lung transplantation

    DEFF Research Database (Denmark)

    Tønder, Niels; Køber, Lars; Hassager, Christian

    2004-01-01

    We report the case of a patient with known Eisenmenger syndrome due to congenital ventricular septal defect, who developed pulmonary artery dissection. The patient was successfully treated with heart and lung transplantation.......We report the case of a patient with known Eisenmenger syndrome due to congenital ventricular septal defect, who developed pulmonary artery dissection. The patient was successfully treated with heart and lung transplantation....

  11. Aneurysm of the Left Coronary Artery in Postoperative Bland-White-Garland Syndrome

    OpenAIRE

    Nathalie Jeanne Magioli Bravo-Valenzuela; Guilherme Ricardo Nunes Silva

    2015-01-01

    We report a case of anomalous left coronary artery from the pulmonary artery (ALCAPA) or Bland-White-Garland syndrome, present the challenges of performing a differential diagnosis, and discuss the treatment of the syndrome. Although ALCAPA is a rare congenital heart disease, it is one of the most common causes of myocardial ischemia in childhood and presents a diagnostic challenge. A four-year-old girl was referred to a pediatric cardiologist for evaluation of mitral valve regurgitation murm...

  12. Oligohydramnios sequence and a variant of Dandy-Walker syndrome

    OpenAIRE

    Prasad Yeshwant Deshmukh; Shaifali Kundan Patil; B. G. Boricha

    2014-01-01

    Dandy-Walker syndrome is frequently associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes. In the diagnostic workup, ultrasound is reliable and accurate for making the diagnosis. For diagnostic purposes and confirmation of diagnosis, foetal MRI in utero also has been advocated. Further confirmation may b...

  13. A study on the carotid artery ultrasonography for the metabolic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kong, Hye Jung; Cho, Pyong Kon [Dept. of Radiological Science, Catholic University of Daegu, Daegu (Korea, Republic of); Kang, Young Han [Dept. of Radiology, Catholic University Hospital of Daegu, Daegu (Korea, Republic of)

    2013-09-15

    The primary goal of this study was to ascertain the primary factors to the affect for the carotid artery intima-media thickness (IMT), the prevalence of metabolic syndrome and other risks can possibly influence the carotid artery IMT. All patients data (total specimens: 289, male: 197, female: 92) including the carotid artery ultrasonography examination. The all data were analyzed by the use of SPSS software, version 21.0 (SPSS, Chicago, IL USA), with the descriptive statistics method. The Results of this study was found to be highly increased in the males than the females. The prevalence of metabolic syndrome in all of the participants was 30.5 percentages. The carotid artery IMT in the subjects with metabolic syndrome was significantly high in both genders, compared to the rest, who were without metabolic syndrome. The Pearsons correlation coefficient of metabolic syndrome and CIMT was 0.378(p<0.01). In conclusions, the present study also supports the association between the carotid artery IMT and the metabolic syndromes with cardiovascular risk factors. Usage of B-mode ultrasonography to measure the carotid artery IMT was found to be highly effective in the current analysis.

  14. A study on the carotid artery ultrasonography for the metabolic syndrome

    International Nuclear Information System (INIS)

    The primary goal of this study was to ascertain the primary factors to the affect for the carotid artery intima-media thickness (IMT), the prevalence of metabolic syndrome and other risks can possibly influence the carotid artery IMT. All patients data (total specimens: 289, male: 197, female: 92) including the carotid artery ultrasonography examination. The all data were analyzed by the use of SPSS software, version 21.0 (SPSS, Chicago, IL USA), with the descriptive statistics method. The Results of this study was found to be highly increased in the males than the females. The prevalence of metabolic syndrome in all of the participants was 30.5 percentages. The carotid artery IMT in the subjects with metabolic syndrome was significantly high in both genders, compared to the rest, who were without metabolic syndrome. The Pearsons correlation coefficient of metabolic syndrome and CIMT was 0.378(p<0.01). In conclusions, the present study also supports the association between the carotid artery IMT and the metabolic syndromes with cardiovascular risk factors. Usage of B-mode ultrasonography to measure the carotid artery IMT was found to be highly effective in the current analysis

  15. [Coronary subclavian steal syndrome: two cases after coronary artery bypass grafting

    DEFF Research Database (Denmark)

    Penninga, L.; Damgaard, S.

    2008-01-01

    Reverse flow in the internal mammary artery (IMA) graft due to stenosis or occlusion of the proximal ipsilateral subclavian artery causes coronary subclavian steal syndrome (CSSS). We describe two patients who were diagnosed with CSSS following CABG. Patient A presented with angina pectoris, was...

  16. Evaluation of carotid artery elasticity in patients with obstructive sleep apnea syndrome using quantitative arterial stiffness technique

    Institute of Scientific and Technical Information of China (English)

    俞飞虹

    2012-01-01

    Objective To explore the changes and clinical value of carotid elasticity index in patients with obstructive sleep apnea syndrome (OSAS) by quantitative arterial stiffness(OAS) technique. Methods Seventy-two OSAS patients were divided into 2 groups according to whether there was coexisting hypertension

  17. Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Winkelmann Bernhard R

    2011-09-01

    Full Text Available Abstract Background Genome-wide association studies (GWAS have identified new candidate genes for the occurrence of acute coronary syndrome (ACS, but possible effects of such genes on survival following ACS have yet to be investigated. Methods We examined 95 polymorphisms in 69 distinct gene regions identified in a GWAS for premature myocardial infarction for their association with post-ACS mortality among 811 whites recruited from university-affiliated hospitals in Kansas City, Missouri. We then sought replication of a positive genetic association in a large, racially diverse cohort of myocardial infarction patients (N = 2284 using Kaplan-Meier survival analyses and Cox regression to adjust for relevant covariates. Finally, we investigated the apparent association further in 6086 additional coronary artery disease patients. Results After Cox adjustment for other ACS risk factors, of 95 SNPs tested in 811 whites only the association with the rs6922269 in MTHFD1L was statistically significant, with a 2.6-fold mortality hazard (P = 0.007. The recessive A/A genotype was of borderline significance in an age- and race-adjusted analysis of the entire combined cohort (N = 3095; P = 0.052, but this finding was not confirmed in independent cohorts (N = 6086. Conclusions We found no support for the hypothesis that the GWAS-identified variants in this study substantially alter the probability of post-ACS survival. Large-scale, collaborative, genome-wide studies may be required in order to detect genetic variants that are robustly associated with survival in patients with coronary artery disease.

  18. Imaging findings in the rare catastrophic variant of the primary antiphospholipid syndrome

    International Nuclear Information System (INIS)

    We report imaging findings in a case of the rare catastrophic variant of antiphospholipid syndrome (CAPS) characterized by widespread microvascular occlusions, which may lead to multiple organ failure. We present a case of a 66-year-old woman with bone marrow necrosis, acute acalculous cholecystitis (AAC), focal liver necrosis, subtle patchy splenic infarctions, and bilateral adrenal infarction. The demonstration of multiple microvascular organ involvement (three or more) is crucial for the diagnosis of the catastrophic variant of APS. This can be performed radiologically intra-vitam. Imaging can even reveal subclinical microinfarctions, which are often only diagnosed at autopsy. (orig.)

  19. Imaging findings in the rare catastrophic variant of the primary antiphospholipid syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Thuerl, Christina; Altehoefer, Carsten; Laubenberger, Joerg [Freiburg Univ. (Germany). Abt. Radiologie; Spyridonidis, Alexandros [Freiburg Univ. (DE). Abt. Innere Medizin 1 (Haematologie und Onkologie)

    2002-03-01

    We report imaging findings in a case of the rare catastrophic variant of antiphospholipid syndrome (CAPS) characterized by widespread microvascular occlusions, which may lead to multiple organ failure. We present a case of a 66-year-old woman with bone marrow necrosis, acute acalculous cholecystitis (AAC), focal liver necrosis, subtle patchy splenic infarctions, and bilateral adrenal infarction. The demonstration of multiple microvascular organ involvement (three or more) is crucial for the diagnosis of the catastrophic variant of APS. This can be performed radiologically intra-vitam. Imaging can even reveal subclinical microinfarctions, which are often only diagnosed at autopsy. (orig.)

  20. Prevalence of coronary artery disease in Japanese patients with cerebral infarction. Impact of metabolic syndrome and intracranial large artery atherosclerosis

    International Nuclear Information System (INIS)

    Patients with cerebral infarction have a high prevalence of asymptomatic coronary artery disease (CAD) and other vascular diseases, but there is a lack of such data for Japanese patients, so the present study investigated the prevalence of cardiovascular disease (CVD) in Japanese patients and determined the predictors of CAD. The study group comprised 104 patients with cerebral infarction who had no history of CVD. All patients underwent coronary computed tomographic angiography, and systematic evaluation was done on the basis of the presence of other vascular diseases, CVD risk markers, and the degree of atherosclerosis. Of the total, 39 patients (37.5%) had CAD, 9 (8.7%) had carotid artery stenosis, 9 (8.7%) had peripheral artery disease of the lower limbs, and 3 (2.9%) had atherosclerotic renal artery stenosis. Multiple regression analysis showed that the presence of CAD was independently associated with metabolic syndrome (odds ratio (OR) 5.008, 95% confidence interval (CI) 1.538-16.309; p<0.01) and intracranial large artery atherosclerosis (OR 4.979, 95% CI 1.633-15.183; p<0.01). Japanese patients with cerebral infarction have a high prevalence of CVD, especially asymptomatic CAD. Both metabolic syndrome and intracranial large artery atherosclerosis may be potential predictors for identifying patients with cerebral infarction who are at the highest risk of asymptomatic CAD. (author)

  1. Autosomal recessive multiple pterygium syndrome: a new variant?

    Science.gov (United States)

    Aslan, Y; Erduran, E; Kutlu, N

    2000-07-31

    Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents. PMID:10925380

  2. An Extraordinary Case Associated with an Allergic Reaction to Clopidogrel: Coronary Artery Spasm or Kounis Syndrome?

    Science.gov (United States)

    Liping, Zhang; Bin, Hui; Qiming, Feng

    2015-11-01

    Kounis syndrome is the concurrence of acute coronary syndrome with allergic reactions, such as anaphylaxis or anaphylactoid reactions. Here, we describe a unique case: CASs (coronary artery spasms) with both non-hypersensitivity and hypersensitivity aetiology (associated with clopidogrel hypersensitivity) were observed in a 61 year-old patient. Herein, the mechanism and clinical implications of this association are discussed. PMID:26138623

  3. Thrombosed persistent median artery causing carpal tunnel syndrome associated with bifurcated median nerve: A case report

    International Nuclear Information System (INIS)

    Background: Carpal tunnel syndrome is a sporadically occurring abnormality due to compression of median nerve. It is exceedingly rare for it to be caused by thrombosis of persistent median artery. Case Report: A forty two year old female was referred for ultrasound examination due to ongoing wrist pain, not relived by pain killers and mild paraesthesia on the radial side of the hand. High resolution ultrasound and Doppler revealed a thrombosed persistent median artery and associated bifurcated median nerve. The thrombus resolved on treatment with anticoagulants. Conclusions: Ultrasound examination of the wrist when done for patients with carpal tunnel syndrome should preferably include looking for persistent median artery and its patency. (authors)

  4. Common variants associated with plasma triglycerides and risk for coronary artery disease.

    Science.gov (United States)

    Do, Ron; Willer, Cristen J; Schmidt, Ellen M; Sengupta, Sebanti; Gao, Chi; Peloso, Gina M; Gustafsson, Stefan; Kanoni, Stavroula; Ganna, Andrea; Chen, Jin; Buchkovich, Martin L; Mora, Samia; Beckmann, Jacques S; Bragg-Gresham, Jennifer L; Chang, Hsing-Yi; Demirkan, Ayşe; Den Hertog, Heleen M; Donnelly, Louise A; Ehret, Georg B; Esko, Tõnu; Feitosa, Mary F; Ferreira, Teresa; Fischer, Krista; Fontanillas, Pierre; Fraser, Ross M; Freitag, Daniel F; Gurdasani, Deepti; Heikkilä, Kauko; Hyppönen, Elina; Isaacs, Aaron; Jackson, Anne U; Johansson, Asa; Johnson, Toby; Kaakinen, Marika; Kettunen, Johannes; Kleber, Marcus E; Li, Xiaohui; Luan, Jian'an; Lyytikäinen, Leo-Pekka; Magnusson, Patrik K E; Mangino, Massimo; Mihailov, Evelin; Montasser, May E; Müller-Nurasyid, Martina; Nolte, Ilja M; O'Connell, Jeffrey R; Palmer, Cameron D; Perola, Markus; Petersen, Ann-Kristin; Sanna, Serena; Saxena, Richa; Service, Susan K; Shah, Sonia; Shungin, Dmitry; Sidore, Carlo; Song, Ci; Strawbridge, Rona J; Surakka, Ida; Tanaka, Toshiko; Teslovich, Tanya M; Thorleifsson, Gudmar; Van den Herik, Evita G; Voight, Benjamin F; Volcik, Kelly A; Waite, Lindsay L; Wong, Andrew; Wu, Ying; Zhang, Weihua; Absher, Devin; Asiki, Gershim; Barroso, Inês; Been, Latonya F; Bolton, Jennifer L; Bonnycastle, Lori L; Brambilla, Paolo; Burnett, Mary S; Cesana, Giancarlo; Dimitriou, Maria; Doney, Alex S F; Döring, Angela; Elliott, Paul; Epstein, Stephen E; Eyjolfsson, Gudmundur Ingi; Gigante, Bruna; Goodarzi, Mark O; Grallert, Harald; Gravito, Martha L; Groves, Christopher J; Hallmans, Göran; Hartikainen, Anna-Liisa; Hayward, Caroline; Hernandez, Dena; Hicks, Andrew A; Holm, Hilma; Hung, Yi-Jen; Illig, Thomas; Jones, Michelle R; Kaleebu, Pontiano; Kastelein, John J P; Khaw, Kay-Tee; Kim, Eric; Klopp, Norman; Komulainen, Pirjo; Kumari, Meena; Langenberg, Claudia; Lehtimäki, Terho; Lin, Shih-Yi; Lindström, Jaana; Loos, Ruth J F; Mach, François; McArdle, Wendy L; Meisinger, Christa; Mitchell, Braxton D; Müller, Gabrielle; Nagaraja, Ramaiah; Narisu, Narisu; Nieminen, Tuomo V M; Nsubuga, Rebecca N; Olafsson, Isleifur; Ong, Ken K; Palotie, Aarno; Papamarkou, Theodore; Pomilla, Cristina; Pouta, Anneli; Rader, Daniel J; Reilly, Muredach P; Ridker, Paul M; Rivadeneira, Fernando; Rudan, Igor; Ruokonen, Aimo; Samani, Nilesh; Scharnagl, Hubert; Seeley, Janet; Silander, Kaisa; Stančáková, Alena; Stirrups, Kathleen; Swift, Amy J; Tiret, Laurence; Uitterlinden, Andre G; van Pelt, L Joost; Vedantam, Sailaja; Wainwright, Nicholas; Wijmenga, Cisca; Wild, Sarah H; Willemsen, Gonneke; Wilsgaard, Tom; Wilson, James F; Young, Elizabeth H; Zhao, Jing Hua; Adair, Linda S; Arveiler, Dominique; Assimes, Themistocles L; Bandinelli, Stefania; Bennett, Franklyn; Bochud, Murielle; Boehm, Bernhard O; Boomsma, Dorret I; Borecki, Ingrid B; Bornstein, Stefan R; Bovet, Pascal; Burnier, Michel; Campbell, Harry; Chakravarti, Aravinda; Chambers, John C; Chen, Yii-Der Ida; Collins, Francis S; Cooper, Richard S; Danesh, John; Dedoussis, George; de Faire, Ulf; Feranil, Alan B; Ferrières, Jean; Ferrucci, Luigi; Freimer, Nelson B; Gieger, Christian; Groop, Leif C; Gudnason, Vilmundur; Gyllensten, Ulf; Hamsten, Anders; Harris, Tamara B; Hingorani, Aroon; Hirschhorn, Joel N; Hofman, Albert; Hovingh, G Kees; Hsiung, Chao Agnes; Humphries, Steve E; Hunt, Steven C; Hveem, Kristian; Iribarren, Carlos; Järvelin, Marjo-Riitta; Jula, Antti; Kähönen, Mika; Kaprio, Jaakko; Kesäniemi, Antero; Kivimaki, Mika; Kooner, Jaspal S; Koudstaal, Peter J; Krauss, Ronald M; Kuh, Diana; Kuusisto, Johanna; Kyvik, Kirsten O; Laakso, Markku; Lakka, Timo A; Lind, Lars; Lindgren, Cecilia M; Martin, Nicholas G; März, Winfried; McCarthy, Mark I; McKenzie, Colin A; Meneton, Pierre; Metspalu, Andres; Moilanen, Leena; Morris, Andrew D; Munroe, Patricia B; Njølstad, Inger; Pedersen, Nancy L; Power, Chris; Pramstaller, Peter P; Price, Jackie F; Psaty, Bruce M; Quertermous, Thomas; Rauramaa, Rainer; Saleheen, Danish; Salomaa, Veikko; Sanghera, Dharambir K; Saramies, Jouko; Schwarz, Peter E H; Sheu, Wayne H-H; Shuldiner, Alan R; Siegbahn, Agneta; Spector, Tim D; Stefansson, Kari; Strachan, David P; Tayo, Bamidele O; Tremoli, Elena; Tuomilehto, Jaakko; Uusitupa, Matti; van Duijn, Cornelia M; Vollenweider, Peter; Wallentin, Lars; Wareham, Nicholas J; Whitfield, John B; Wolffenbuttel, Bruce H R; Altshuler, David; Ordovas, Jose M; Boerwinkle, Eric; Palmer, Colin N A; Thorsteinsdottir, Unnur; Chasman, Daniel I; Rotter, Jerome I; Franks, Paul W; Ripatti, Samuli; Cupples, L Adrienne; Sandhu, Manjinder S; Rich, Stephen S; Boehnke, Michael; Deloukas, Panos; Mohlke, Karen L; Ingelsson, Erik; Abecasis, Goncalo R; Daly, Mark J; Neale, Benjamin M; Kathiresan, Sekar

    2013-11-01

    Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common variants recently mapped for plasma lipids (P < 5 × 10(-8) for each) to examine the role of triglycerides in risk for CAD. First, we highlight loci associated with both low-density lipoprotein cholesterol (LDL-C) and triglyceride levels, and we show that the direction and magnitude of the associations with both traits are factors in determining CAD risk. Second, we consider loci with only a strong association with triglycerides and show that these loci are also associated with CAD. Finally, in a model accounting for effects on LDL-C and/or high-density lipoprotein cholesterol (HDL-C) levels, the strength of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk. These results suggest that triglyceride-rich lipoproteins causally influence risk for CAD. PMID:24097064

  5. Common variants associated with plasma triglycerides and risk for coronary artery disease

    Science.gov (United States)

    Do, Ron; Willer, Cristen J.; Schmidt, Ellen M.; Sengupta, Sebanti; Gao, Chi; Peloso, Gina M.; Gustafsson, Stefan; Kanoni, Stavroula; Ganna, Andrea; Chen, Jin; Buchkovich, Martin L.; Mora, Samia; Beckmann, Jacques S.; Bragg-Gresham, Jennifer L.; Chang, Hsing-Yi; Demirkan, Ayşe; Den Hertog, Heleen M.; Donnelly, Louise A.; Ehret, Georg B.; Esko, Tõnu; Feitosa, Mary F.; Ferreira, Teresa; Fischer, Krista; Fontanillas, Pierre; Fraser, Ross M.; Freitag, Daniel F.; Gurdasani, Deepti; Heikkilä, Kauko; Hyppönen, Elina; Isaacs, Aaron; Jackson, Anne U.; Johansson, Åsa; Johnson, Toby; Kaakinen, Marika; Kettunen, Johannes; Kleber, Marcus E.; Li, Xiaohui; Luan, Jian'an; Lyytikäinen, Leo-Pekka; Magnusson, Patrik K.E.; Mangino, Massimo; Mihailov, Evelin; Montasser, May E.; Müller-Nurasyid, Martina; Nolte, Ilja M.; O'Connell, Jeffrey R.; Palmer, Cameron D.; Perola, Markus; Petersen, Ann-Kristin; Sanna, Serena; Saxena, Richa; Service, Susan K.; Shah, Sonia; Shungin, Dmitry; Sidore, Carlo; Song, Ci; Strawbridge, Rona J.; Surakka, Ida; Tanaka, Toshiko; Teslovich, Tanya M.; Thorleifsson, Gudmar; Van den Herik, Evita G.; Voight, Benjamin F.; Volcik, Kelly A.; Waite, Lindsay L.; Wong, Andrew; Wu, Ying; Zhang, Weihua; Absher, Devin; Asiki, Gershim; Barroso, Inês; Been, Latonya F.; Bolton, Jennifer L.; Bonnycastle, Lori L; Brambilla, Paolo; Burnett, Mary S.; Cesana, Giancarlo; Dimitriou, Maria; Doney, Alex S.F.; Döring, Angela; Elliott, Paul; Epstein, Stephen E.; Eyjolfsson, Gudmundur Ingi; Gigante, Bruna; Goodarzi, Mark O.; Grallert, Harald; Gravito, Martha L.; Groves, Christopher J.; Hallmans, Göran; Hartikainen, Anna-Liisa; Hayward, Caroline; Hernandez, Dena; Hicks, Andrew A.; Holm, Hilma; Hung, Yi-Jen; Illig, Thomas; Jones, Michelle R.; Kaleebu, Pontiano; Kastelein, John J.P.; Khaw, Kay-Tee; Kim, Eric; Klopp, Norman; Komulainen, Pirjo; Kumari, Meena; Langenberg, Claudia; Lehtimäki, Terho; Lin, Shih-Yi; Lindström, Jaana; Loos, Ruth J.F.; Mach, François; McArdle, Wendy L; Meisinger, Christa; Mitchell, Braxton D.; Müller, Gabrielle; Nagaraja, Ramaiah; Narisu, Narisu; Nieminen, Tuomo V.M.; Nsubuga, Rebecca N.; Olafsson, Isleifur; Ong, Ken K.; Palotie, Aarno; Papamarkou, Theodore; Pomilla, Cristina; Pouta, Anneli; Rader, Daniel J.; Reilly, Muredach P.; Ridker, Paul M.; Rivadeneira, Fernando; Rudan, Igor; Ruokonen, Aimo; Samani, Nilesh; Scharnagl, Hubert; Seeley, Janet; Silander, Kaisa; Stančáková, Alena; Stirrups, Kathleen; Swift, Amy J.; Tiret, Laurence; Uitterlinden, Andre G.; van Pelt, L. Joost; Vedantam, Sailaja; Wainwright, Nicholas; Wijmenga, Cisca; Wild, Sarah H.; Willemsen, Gonneke; Wilsgaard, Tom; Wilson, James F.; Young, Elizabeth H.; Zhao, Jing Hua; Adair, Linda S.; Arveiler, Dominique; Assimes, Themistocles L.; Bandinelli, Stefania; Bennett, Franklyn; Bochud, Murielle; Boehm, Bernhard O.; Boomsma, Dorret I.; Borecki, Ingrid B.; Bornstein, Stefan R.; Bovet, Pascal; Burnier, Michel; Campbell, Harry; Chakravarti, Aravinda; Chambers, John C.; Chen, Yii-Der Ida; Collins, Francis S.; Cooper, Richard S.; Danesh, John; Dedoussis, George; de Faire, Ulf; Feranil, Alan B.; Ferrières, Jean; Ferrucci, Luigi; Freimer, Nelson B.; Gieger, Christian; Groop, Leif C.; Gudnason, Vilmundur; Gyllensten, Ulf; Hamsten, Anders; Harris, Tamara B.; Hingorani, Aroon; Hirschhorn, Joel N.; Hofman, Albert; Hovingh, G. Kees; Hsiung, Chao Agnes; Humphries, Steve E.; Hunt, Steven C.; Hveem, Kristian; Iribarren, Carlos; Järvelin, Marjo-Riitta; Jula, Antti; Kähönen, Mika; Kaprio, Jaakko; Kesäniemi, Antero; Kivimaki, Mika; Kooner, Jaspal S.; Koudstaal, Peter J.; Krauss, Ronald M.; Kuh, Diana; Kuusisto, Johanna; Kyvik, Kirsten O.; Laakso, Markku; Lakka, Timo A.; Lind, Lars; Lindgren, Cecilia M.; Martin, Nicholas G.; März, Winfried; McCarthy, Mark I.; McKenzie, Colin A.; Meneton, Pierre; Metspalu, Andres; Moilanen, Leena; Morris, Andrew D.; Munroe, Patricia B.; Njølstad, Inger; Pedersen, Nancy L.; Power, Chris; Pramstaller, Peter P.; Price, Jackie F.; Psaty, Bruce M.; Quertermous, Thomas; Rauramaa, Rainer; Saleheen, Danish; Salomaa, Veikko; Sanghera, Dharambir K.; Saramies, Jouko; Schwarz, Peter E.H.; Sheu, Wayne H-H; Shuldiner, Alan R.; Siegbahn, Agneta; Spector, Tim D.; Stefansson, Kari; Strachan, David P.; Tayo, Bamidele O.; Tremoli, Elena; Tuomilehto, Jaakko; Uusitupa, Matti; van Duijn, Cornelia M.; Vollenweider, Peter; Wallentin, Lars; Wareham, Nicholas J.; Whitfield, John B.; Wolffenbuttel, Bruce H.R.; Altshuler, David; Ordovas, Jose M.; Boerwinkle, Eric; Palmer, Colin N.A.; Thorsteinsdottir, Unnur; Chasman, Daniel I.

    2013-01-01

    Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiologic studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common variants recently mapped for plasma lipids (P<5×10−8 for each) to examine the role of triglycerides on risk for CAD. First, we highlight loci associated with both low-density lipoprotein cholesterol (LDL-C) and triglycerides, and show that the direction and magnitude of both are factors in determining CAD risk. Second, we consider loci with only a strong magnitude of association with triglycerides and show that these loci are also associated with CAD. Finally, in a model accounting for effects on LDL-C and/or high-density lipoprotein cholesterol, a polymorphism's strength of effect on triglycerides is correlated with the magnitude of its effect on CAD risk. These results suggest that triglyceride-rich lipoproteins causally influence risk for CAD. PMID:24097064

  6. Assessing Genetic Variants of Uncertain Significance: The Example of Lynch Syndrome

    DEFF Research Database (Denmark)

    Rasmussen, Lene Juel; Heinen, Christopher D.

    2014-01-01

    variants of uncertain significance (VUS). This leads to anxiety in carriers and noncarrying relatives alike, as well as to an unnecessary burden to preventive healthcare. The establishment of procedures that enable the diagnostic assessment of VUSs in individuals are discussed and hereditary colorectal...... cancer syndrome, Lynch syndrome, is used as an example. This challenge is addressed by illustrating the importance of combining genetic and functional data in future strategies to assess VUS. The proposed strategies combine clinical genetic, analytical, functional and in silico approaches....

  7. Guillain-Barre syndrome with hyperreflexia: A variant

    Directory of Open Access Journals (Sweden)

    Vikram Singhal

    2011-01-01

    Full Text Available Guillain-Barre syndrome (GBS is a common cause of acute peripheral neuropathy and is characterized by hyporeflexia or areflexia. Hyperreflexia has been rarely reported with acute motor axonal neuropathy. A 10-year-old boy presented with asymmetrical weakness of upper and lower limbs and change of voice. Weakness progressed in the hospital with involvement of multiple cranial nerves, preserved deep tendon jerks with extensor plantar, and normal abdominal reflexes. He was treated with IV immunoglobulin and IV methylprednisolone. He was able to walk with support with normal voice at the time of discharge. GBS should be a differential diagnosis in patients with acute quadriparesis even if there are preserved deep tendon reflexes.

  8. Oligohydramnios sequence and a variant of Dandy-Walker syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Yeshwant Deshmukh

    2014-08-01

    Full Text Available Dandy-Walker syndrome is frequently associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum and malformations of the heart, face, limbs, fingers and toes. In the diagnostic workup, ultrasound is reliable and accurate for making the diagnosis. For diagnostic purposes and confirmation of diagnosis, foetal MRI in utero also has been advocated. Further confirmation may be done with autopsy of neonate after birth. Most of the pregnancies are terminated after antenatal diagnosis on anomaly scan. However if born alive the survival depends on associated anomalies in other systems. [Int J Reprod Contracept Obstet Gynecol 2014; 3(4.000: 1107-1109

  9. A Rare Clinical Variant of Oromandibular Limb Hypogenesis Syndrome Type I B

    Science.gov (United States)

    Godhane, Alkesh; Kalaskar, Ashita; Demble, Swati

    2016-01-01

    ABSTRACT Aglossia is a rare congenital malformation that often occurs as an isolated disorder or is observed in association with other congenital deformities, particularly limb defects. We present a unique case of a 7-year-old girl with aglossia, hypodactyli, rudimentary ears, retrognathic and V-shaped mandible. Her parental history revealed intrauterine exposure of medicines. The patient had problems in difficulty in eating, speech, taste sensation and hearing. The present case does not fit into Hall’s classification of oromandibular limb hypogenesis syndrome (OLHS) which best describes hypoglossia and limb deformities. Therefore, the purpose of this article is to document the rare variant of OLHS which can be included in Hall’s classification. How to cite this article: Kalaskar RR, Godhane A, Kalaskar A, Demble S. A Rare Clinical Variant of Oromandibular Limb Hypogenesis Syndrome Type I B. Int J Clin Pediatr Dent 2016;9(1):78-81. PMID:27274161

  10. Prevalence of Congenital Coronary Artery Anomalies and Variants in 2697 Consecutive Patients Using 64-Detector Row Coronary CTAngiography

    OpenAIRE

    Farzaneh Fattahi Masrour; Reza Tayebivaljozi,; Shahram Akhlaghpoor; Abbas Arjmand Shabestari

    2012-01-01

    Background: Coronary artery anomalies are not common, but could be very serious.Objectives: This study determines the frequency of coronary anomalies and normal variants by multi-detector-row computed tomography (MDCT).Patients and Methods: The results of cardiac MDCT study in 2697 consecutive patients were analyzed retrospectively. Acquisition was performed by a 64-detector row CT machine. Imaging results were assessed by experienced radiologists.Results: Myocardial bridging was by far the m...

  11. Prevalence of Congenital Coronary Artery Anomalies and Variants in 2697 Consecutive Patients Using 64-Detector Row Coronary CTAngiography

    OpenAIRE

    Shabestari, Abbas Arjmand; Akhlaghpoor, Shahram; Tayebivaljozi, Reza; Fattahi Masrour, Farzaneh

    2012-01-01

    Background Coronary artery anomalies are not common, but could be very serious. Objectives This study determines the frequency of coronary anomalies and normal variants by multi-detector-row computed tomography (MDCT). Patients and Methods The results of cardiac MDCT study in 2697 consecutive patients were analyzed retrospectively. Acquisition was performed by a 64-detector row CT machine. Imaging results were assessed by experienced radiologists. Results Myocardial bridging was by far the mo...

  12. Superior mesenteric artery syndrome following initiation of cisplatin-containing chemotherapy: a case report

    Directory of Open Access Journals (Sweden)

    Ushiki Atsuhito

    2012-01-01

    Full Text Available Abstract Introduction Superior mesenteric artery syndrome is a rare cause of upper intestinal obstruction resulting from compression of the duodenum by the superior mesenteric artery and abdominal aorta. Case presentation We describe a case of superior mesenteric artery syndrome in a 61-year-old Japanese man with non-small cell lung cancer who had been treated with cisplatin-containing chemotherapy and had lost 7 kg in weight. The diagnosis was confirmed by the typical findings of abdominal computed tomography showing distended stomach resulting from compression of the third portion of the duodenum and reduction of an aortomesenteric distance and aortomesenteric angle. Conclusions This case highlights the importance of considering the possibility of superior mesenteric artery syndrome in patients treated with chemotherapy, especially those presenting with a low body mass index and showing weight loss during chemotherapy.

  13. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.

    Science.gov (United States)

    Tønne, Elin; Holdhus, Rita; Stansberg, Christine; Stray-Pedersen, Asbjørg; Petersen, Kjell; Brunner, Han G; Gilissen, Christian; Hoischen, Alexander; Prescott, Trine; Steen, Vidar M; Fiskerstrand, Torunn

    2015-12-01

    We describe a three-generation Norwegian family with a novel X-linked intellectual disability (XLID) syndrome characterized by subtle facial dysmorphism, autism and severe feeding problems. By exome sequencing we detected a rare missense variant (c.1067A>G, p.(Tyr356Cys)) in the RLIM gene, in two affected male second cousins. Sanger sequencing confirmed the presence of the variant in the four affected males (none of whom were siblings) and in three mothers available for testing. The variant was not present in 100 normal Norwegian controls, has not been reported in variant databases and is deleterious according to in silico prediction tools. The clinical phenotype and the variant co-segregate, yielding a LOD score of 3.0 for linkage to the shared region (36.09 Mb), which contains 242 genes. No other shared rare variants on the X chromosome were detected in the two affected exome-sequenced individuals, and all female carriers had an extremely skewed X-chromosome inactivation pattern. RLIM encodes RING zinc finger protein 12 (RNF12), an ubiquitin ligase that is essential for X inactivation in mice and that acts as a co-regulator of a range of transcription factors, particularly those containing a LIM homeodomain. Tyrosine in position 356 in RNF12 is located within a highly conserved domain essential for binding such transcription factors. Expression of RNF12 is widespread during embryogenesis, and is particularly high in the outer layers of the cerebral cortex. Functional studies are needed to prove a definite causal relationship between the variant and the phenotype. Subsequent reports may confirm a role for RLIM variants in patients with XLID. PMID:25735484

  14. Rare Variants of the Serotonin Transporter Are Associated With Psychiatric Comorbidity in Irritable Bowel Syndrome.

    Science.gov (United States)

    Kohen, Ruth; Tracy, Julia H; Haugen, Eric; Cain, Kevin C; Jarrett, Monica E; Heitkemper, Margaret M

    2016-07-01

    Alterations in serotonin signaling are suspected in the pathophysiology of irritable bowel syndrome (IBS). By modulating the extracellular reuptake of serotonin, the serotonin transporter (SERT) acts as a key regulator of the bioavailability of serotonin. This study is the first to investigate the impact of rare SERT variants (i.e., those with a minor allele frequency of gastrointestinal (GI) symptom level, response to cognitive-behavioral treatment, and psychiatric comorbidity. We sequenced a 0.19 megabase chromosomal stretch containing the SERT gene and surrounding regions in a community sample of 304 IBS patients and 83 controls. We found no significant associations between rare variants in and around the SERT gene and IBS risk, GI symptom profile, or response to treatment. We found preliminary evidence, however, that IBS subjects with a history of either depression or anxiety were significantly more likely to carry multiple rare likely functional variant alleles than IBS patients without psychiatric comorbidity. PMID:26912503

  15. [Arterial complications of thoracic outlet syndrome and pseudarthrosis of the clavicle: three patients].

    Science.gov (United States)

    Garnier, D; Chevalier, J; Ducasse, E; Modine, T; Espagne, P; Puppinck, P

    2003-04-01

    During a 3-year period, three patients developed arterial complications related to congenital or post-traumatic old pseudarthrosis of the clavicle. Arterial complications of pseudarthrosis of the clavicle presenting as a thoracic outlet syndrome are very rare. Symptoms are variable and occur late. Without treatment, the prognosis is poor with spontaneous development of gangrene. Arterial morphology investigations should be undertaken in patients with pseudarthrosis of the clavicle or isolated arterial symptoms involving the upper limb whose radial pulse disappears during postural tests. Duplex Doppler of the subclavian artery is an excellent screening exam but selective arteriography is the gold standard. It shows proximal arterial lesions (embolytic stenosis of the subclavian artery with post-stenotic dilatation), as well as distal embolic complications. Both static and postural tests must be performed to unmask subclavian restriction by the clavicle, proving its causal effect in the arterial complications. There are four clinical varieties: chronic thrombosis of the subclavian artery, distal arterial micro emboli, acute thrombosis of proximal arteries of the upper limb, and subclavian aneurysm. These lesions are thought to be due to chronic constriction and repeated arterial microtrauma. Congenital or post-traumatic pseudarthrosis, hypertrophic callus, arterial restriction by a screw in a clavicular plate, usually explain the arterial lesions. Bone tumors and Paget's disease are potential but exceptional clavicular etiologies. Surgical treatment is always necessary. Clavicular resection is usually needed in case of pseudarthrosis; there is no functional handicap. Plate fixation and autologous grafting, or open reduction and internal fixation are other valid surgical treatments; The embolytic lesions must be treated to prevent recurrence of distal embolization: graft resection and thromboendarteriectomy have been described. Neurological and venous decompression

  16. Multiple Cranial Neuropathies Without Limb Involvements: Guillain-Barre Syndrome Variant?

    OpenAIRE

    Yu, Ju Young; Jung, Han Young; Kim, Chang Hwan; Kim, Hyo Sang; Kim, Myeong Ok

    2013-01-01

    Acute multiple cranial neuropathies are considered as variant of Guillain-Barre syndrome, which are immune-mediated diseases triggered by various cases. It is a rare disease which is related to infectious, inflammatory or systemic diseases. According to previous case reports, those affected can exhibit almost bilateral facial nerve palsy, then followed by bulbar dysfunctions (cranial nerves IX and X) accompanied by limb weakness and walking difficulties due to motor and/or sensory dysfunction...

  17. The crossover lung segment: congenital malformation associated with a variant of scimitar syndrome.

    OpenAIRE

    Clements, B S; Warner, J O

    1987-01-01

    Three cases of a congenitally misplaced segment of lung are described. In one case the abnormal segment was identified at thoracotomy; it extended from an origin in the right upper lobe across the midline into the left hemithorax. The remaining two patients, with identical radiographic features, were identified in a review of 24 cases of bronchovascular malformation. In all three patients the crossover segment was associated with a variant of the scimitar syndrome: right lung hypoplasia with ...

  18. Imaging the vertebral artery

    Energy Technology Data Exchange (ETDEWEB)

    Tay, Keng Yeow; U-King-Im, Jean Marie; Trivedi, Rikin A.; Higgins, Nicholas J.; Cross, Justin J.; Antoun, Nagui M. [Addenbrooke' s Hospital and University of Cambridge, Department of Radiology, Cambridge (United Kingdom); Davies, John R.; Weissberg, Peter L. [Addenbrooke' s Hospital and University of Cambridge, Division of Cardiovascular Medicine, Cambridge (United Kingdom); Gillard, Jonathan H. [Addenbrooke' s Hospital and University of Cambridge, Department of Radiology, Cambridge (United Kingdom); Addenbrooke' s Hospitald, University Department of Radiology, Cambridge (United Kingdom)

    2005-07-01

    Although conventional intraarterial digital subtraction angiography remains the gold standard method for imaging the vertebral artery, noninvasive modalities such as ultrasound, multislice computed tomographic angiography and magnetic resonance angiography are constantly improving and are playing an increasingly important role in diagnosing vertebral artery pathology in clinical practice. This paper reviews the current state of vertebral artery imaging from an evidence-based perspective. Normal anatomy, normal variants and a number of pathological entities such as vertebral atherosclerosis, arterial dissection, arteriovenous fistula, subclavian steal syndrome and vertebrobasilar dolichoectasia are discussed. (orig.)

  19. The effect of mannan-binding lectin variant alleles on coronary artery reactivity in healthy young men.

    Science.gov (United States)

    Aittoniemi, Janne; Fan, Yue-Mei; Laaksonen, Reijo; Janatuinen, Tuula; Vesalainen, Risto; Nuutila, Pirjo; Knuuti, Juhani; Hulkkonen, Janne; Hurme, Mikko; Lehtimäki, Terho

    2004-11-01

    Mannan-binding lectin (MBL) is a serum acute-phase protein and a complement component secreted by the liver. Its deficiency caused by point mutations in the MBL gene has recently been associated with severe atherosclerosis. In this study, we investigated the effect of MBL variant alleles on coronary artery reactivity, which is an early marker of coronary dysfunction and predicts the development of atherosclerosis and coronary artery disease. The study population consisted of 51 apparently healthy, normo- or mildly hypercholesterolemic young men. Myocardial blood flow was measured at baseline and during adenosine-induced hyperemia with positron emission tomography (PET), and MBL genotyping was performed using restriction fragment-length polymorphism. As a result, MBL variant alleles had no effect on coronary artery reactivity. This finding suggests that MBL deficiency is not an independent risk factor for coronary dysfunction and early atherogenic changes but rather a co-factor in the development of atherosclerosis. Thus, the connection of MBL variant alleles with environmental risk factors in atherosclerosis should further be assessed. PMID:15458704

  20. Association of usf1s2 variant in the upstream stimulatory factor 1 gene with premature coronary artery disease in southern population of Iran

    Directory of Open Access Journals (Sweden)

    Najmeh Jouyan

    2015-03-01

    Conclusion: It appears that the usf1s2 variant in upstream transcription factor 1 gene is an independent predictor of premature coronary artery disease in our population and applies its effects without affecting blood sugar and lipid levels.

  1. Persistent Trigeminal Artery Variant Detected by Conventional Angiography and Magnetic Resonance Angiography-Incidence and Clinical Significance-

    Science.gov (United States)

    Rhee, Sun Joo; Lee, Chae Heuck; Lee, Ghi Jai

    2007-01-01

    Objective Persistent trigeminal artery variant (PTAV) is an anastomosis between the internal carotid artery (ICA) and the cerebellar artery without any interposing basilar artery segment. We discuss its probable embryological origin and emphasize clinical implications. Methods Retrospectively 1250 conventional cerebral angiograms and 2947 cranial magnetic resonance angiographies (MRAs) were evaluated for the patients with PTAV. Results Five patients (four men and one woman, 23 to 76 years of age, median age 65 years) had a PTAV. Three patients who underwent MRA had a PTAV (3/2947=0.1%). Four of the patients who underwent cerebral angiography had a PTAV (4/1250=0.32%). Two of 143 patients who underwent both conventional angiography and cranial MRA showed PTAV. The PTAV was an incidental finding in all five patients. The PTAV originated from the cavernous segment of the left ICA in four patients and from the cavernous segment of the right ICA in one patient. The terminal branch of the PTAV was the anterior inferior cerebellar artery (AICA) and superior cerebellar artery (SCA) in two patients and the AICA only in the other three patients. Conclusion Neurosurgeons should be aware of possible presence of PTAV. Manipulation of this vessel during a surgical approach to the parasellar region and percutaneous gasserian ganglion procedure may result in hemorrhage or ischemia. PMID:19096587

  2. New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome

    DEFF Research Database (Denmark)

    Yang, Ren-Qiang; Jabbari, Javad; Cheng, Xiao-Shu;

    2014-01-01

    BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS. However, the disease-causing effect of these variants may be questionable...

  3. Novel variant of dual left anterior descending artery arising from single right coronary artery anomaly presenting with angina inversa

    Science.gov (United States)

    Arslan, Gokhan; Iyisoy, Atilla; Bingol, Hakan

    2015-01-01

    A 55-year-old female without a history of coronary artery disease, hypertensive for the past 17 years, was admitted with resting chest pain. Electrocardiography revealed a negative T-wave in anterior chest leads. Coronary angiography visualised anomalous coronary anatomy, with a common origin of the right coronary artery and the left main coronary artery in the right sinus of Valsalva serving as a common coronary trunk. It should be emphasised that T-wave abnormalities and chest angina may be related to this congenital coronary anomaly. PMID:26702282

  4. Is pseudoexfoliation syndrome associated with coronary artery disease?

    Directory of Open Access Journals (Sweden)

    Mehmet Yunus Emiroglu

    2010-01-01

    Full Text Available Background: Pseudoexfoliation syndrome (PEX is recognised by chronic deposition of abnormal pseudoexfoliation material on anterior segment structures of the eye, especially the anterior lens capsule. In recent years, several studies have shown the presence of vascular, cardiac and other organ pseudoexfoliative material in patients with ocular pseudoexfoliation. Aims : The purpose of this study is to determine whether an association exists between ocular pseudoexfoliation and coronary artery disease, aortic aneurysms and peripheric vascular disease. Patients and Methods: 490 patients who underwent coronary angiography (CAG at Kosuyolu Cardiovascula Research and Training Hospital were included in the study. Patients were evaluated for conventional risk factors such as age, sex, family history, hypertension, diabetes, dislipidemia and smoking. Detailed eye examinations including evaluation of lens were done in all patients. The presence of PEX material in the anterior segment was best appreciated by slit lamp after pupillary dilation. The patients were divided into two groups according to the presence of PEX, and compared for the presence of CAD and other risk factors. Results: CAD was present in 387 patients. 103 patients had normal coronary angiography. 20 (5.2 % of CAD patients and 4 (3.9% of normal CAG patients were found to have PEX (p>0.05. There was no significant relationship between CAD and the presence of PEX (p>0.05. When patients were grouped according to the presence of PEX, only age was significantly different between the two groups (r: 0.25, p<0.001. Conclusion: There is no significant relationship between the presence of PEX and CAD. Further studies in larger scales with elderly population may be more valuable.

  5. Hemivaginal septum resection in a patient with a rare variant of Herlyn-Werner-Wunderlich syndrome.

    Science.gov (United States)

    Pereira, Nigel; Anderson, Sharon H; Verrecchio, Elizabeth S; Brown, M Allyson; Glassner, Michael J

    2014-01-01

    Herlyn-Werner-Wunderlich syndrome is characterized by a triad of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. The syndrome should be suspected in any young woman with abdominal pain or cyclic dysmenorrhea, and radiologic evidence of müllerian duct and renal anomalies. Herein is presented the case of a 25-year-old woman with a rare variant of Herlyn-Werner-Wunderlich syndrome, characterized by an anomalous connection between the 2 endocervical canals, who underwent hemivaginal septum resection to relieve progressively worsening dysmenorrhea. The right hemivaginal septum was resected medially from the left cervix and laterally off the right vaginal wall. Hydrodissection between the hemivaginal septum and right cervix facilitated surgical resection. After resection of the hemivaginal septum there was complete resolution of dysmenorrhea and no recurrence of hematometra or hematocolpos. PMID:24858986

  6. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

    Science.gov (United States)

    Hale, Caitlin L; Niederriter, Adrienne N; Green, Glenn E; Martin, Donna M

    2016-02-01

    CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary anomalies, and Ear malformations, including deafness and vestibular disorders) is a genetic condition characterized by a specific and recognizable pattern of features. Heterozygous pathogenic variants in the chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome, and have been identified in 70-90% of individuals fulfilling clinical diagnostic criteria. Since 2004, when CHD7 was discovered as the causative gene for CHARGE syndrome, the phenotypic spectrum associated with pathogenic CHD7 variants has expanded. Predicted pathogenic CHD7 variants have been identified in individuals with isolated features of CHARGE including autism and hypogonadotropic hypogonadism. Here, we present genotype and phenotype data from a cohort of 28 patients who were considered for a diagnosis of CHARGE syndrome, including one patient with atypical presentations and a pathogenic CHD7 variant. We also summarize published literature on pathogenic CHD7 variant positive individuals who have atypical clinical presentations. Lastly, we propose a revision to current clinical diagnostic criteria, including broadening of the major features associated with CHARGE syndrome and addition of pathogenic CHD7 variant status as a major criterion. PMID:26590800

  7. A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

    Directory of Open Access Journals (Sweden)

    Solveig Gretarsdottir

    2015-09-01

    Full Text Available Through high coverage whole-genome sequencing and imputation of the identified variants into a large fraction of the Icelandic population, we found four independent signals in the low density lipoprotein receptor gene (LDLR that associate with levels of non-high density lipoprotein cholesterol (non-HDL-C and coronary artery disease (CAD. Two signals are novel with respect to association with non-HDL-C and are represented by non-coding low frequency variants (between 2-4% frequency, the splice region variant rs72658867-A in intron 14 and rs17248748-T in intron one. These two novel associations were replicated in three additional populations. Both variants lower non-HDL-C levels (rs72658867-A, non-HDL-C effect = -0.44 mmol/l, Padj = 1.1 × 10⁻⁸⁰ and rs17248748-T, non-HDL-C effect = -0.13 mmol/l, Padj = 1.3 × 10⁻¹² and confer protection against CAD (rs72658867-A, OR = 0.76 and Padj = 2.7 × 10⁻⁸ and rs17248748-T, OR = 0.92 and Padj = 0.022. The LDLR splice region variant, rs72658867-A, located at position +5 in intron 14 (NM_000527:c.2140+5G>A, causes retention of intron 14 during transcription and is expected to produce a truncated LDL receptor lacking domains essential for function of the receptor. About half of the transcripts generated from chromosomes carrying rs72658867-A are characterized by this retention of the intron. The same variant also increases LDLR mRNA expression, however, the wild type transcripts do not exceed levels in non-carriers. This demonstrates that sequence variants that disrupt the LDL receptor can lower non-HDL-C and protect against CAD.

  8. Exclusion of candidate genes in a family with arterial tortuosity syndrome.

    Science.gov (United States)

    Gardella, Rita; Zoppi, Nicoletta; Assanelli, Deodato; Muiesan, Maria Lorenza; Barlati, Sergio; Colombi, Marina

    2004-04-30

    Arterial tortuosity syndrome (ATS) is a rare hereditary disorder with variable clinical presentation including tortuosity and elongation of the major arteries, often associated with pulmonary artery stenosis, pulmonary hypertension, and skin and joint laxity, suggestive of a connective tissue disorder. ATS is transmitted in an autosomal recessive mode, but the causal gene is unknown. We report an Italian pedigree with three inbred families in which five patients show signs of ATS. In particular, four adult patients present arterial tortuosity and elongation of the main arteries. Two of these patients, with the most severe degree of arterial tortuosity, also show severe peripheral stenosis of the main pulmonary artery. The fifth young patient shows a severe pulmonary valve stenosis in the absence of arterial tortuosity. All patients show signs of Ehlers-Danlos syndrome (EDS): soft skin with abundant subcutaneous tissue and joint laxity, hernias, and disorganization of the extracellular matrix (ECM) of fibronectin (FN) and of actin microfilaments in cultured skin fibroblasts. Linkage analysis of the genes involved in EDS and other connective tissue disorders, excluded COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, ADAMTS2, ELN, FN1, TNXA, and TNXB as candidate genes in the family under study, thus indicating that ATS is a distinct clinical and molecular entity. PMID:15054833

  9. Performance of unenhanced respiratory-gated 3D SSFP MRA to depict hepatic and visceral artery anatomy and variants

    International Nuclear Information System (INIS)

    Objectives: To prospectively evaluate the performance of unenhanced respiratory-gated magnetization-prepared 3D-SSFP inversion recovery MRA (unenhanced-MRA) to depict hepatic and visceral artery anatomy and variants in comparison to contrast-enhanced dynamic gradient-echo MRI (CE-MRI) and to digital subtraction angiography (DSA). Methods: Eighty-four patients (55.6 ± 12.4 years) were imaged with CE-MRI (TR/TE 3.5/1.7 ms, TI 1.7 ms, flip-angle 15°) and unenhanced-MRA (TR/TE 4.4/2.2 ms, TI 200 ms, flip-angle 90°). Two independent readers assessed image quality of hepatic and visceral arteries on a 4-point-scale. Vessel contrast was measured by a third reader. In 28 patients arterial anatomy was compared to DSA. Results: Interobserver agreement regarding image quality was good for CE-MRI (κ = 0.77) and excellent for unenhanced-MRA (κ = 0.83). Unenhanced-MRA yielded diagnostic image quality in 71.6% of all vessels, whereas CE-MRI provided diagnostic image quality in 90.6% (p < 0.001). Vessel-based image quality was significantly superior for all vessels at CE-MRI compared to unenhanced-MRA (p < 0.01). Vessel contrast was similar among both sequences (p = 0.15). Compared to DSA, CE-MRI and unenhanced-MRA yielded equal accuracy of 92.9–96.4% for depiction of hepatic and visceral artery variants (p = 0.93). Conclusions: Unenhanced-MRA provides diagnostic image quality in 72% of hepatic and visceral arteries with no significant difference in vessel contrast and similar accuracy to CE-MRI for depiction of hepatic and visceral anatomy.

  10. Cervical Posterior Spinal Artery Syndrome: A Case Report and Literature Review.

    Science.gov (United States)

    Sakurai, Takeo; Wakida, Kenji; Nishida, Hiroshi

    2016-06-01

    We report a case of left upper cervical posterior spinal artery (PSA) syndrome caused by atherosclerosis of the left vertebral artery. A 70-year-old female experienced sudden dizziness and paralysis of the left upper and lower limbs. Diffusion-weighted magnetic resonance imaging (DWI) of the brain showed high signal intensity at the vermis and lower left hemisphere of the cerebellum, and magnetic resonance angiography showed that the entire left vertebral artery was thin. The patient was treated with an intravenous infusion of tissue plasminogen activator 2 hours after symptom onset and made a full recovery. Repeat DWI, fluid-attenuated inversion recovery images, and T2-weighted images showed high signal intensity in the left upper cervical PSA area from the lower medulla oblongata to the C2 level in addition to the cerebellum. Previously reported cases of cervical posterior artery syndrome are reviewed. PMID:27012218

  11. Spontaneous coronary artery dissection causing acute coronary syndrome in a young patient without risk factors

    OpenAIRE

    Chevli, Parag; Kelash, Fnu; Gadhvi, Pragnesh; Grandhi, Sreeram; Syed, Amer

    2014-01-01

    Spontaneous coronary artery dissection (SCAD) is a rare cause of acute myocardial infarction that is more common in younger patients (under age 50) and in women. Although the etiology is not known, some predisposing conditions to SCAD are well known and include Marfan syndrome, pregnancy and peripartum state, drug abuse, and some anatomical abnormalities of the coronary arteries such as aneurysms and severe kinking. We describe a case of SCAD in a young woman who presented with sudden onset o...

  12. PHACE(S) Syndrome With Absent Intracranial Internal Carotid Artery and Anomalous Circle of Willis.

    Science.gov (United States)

    Winter, Pieta R; Itinteang, Tinte; Leadbitter, Philip; FitzJohn, Trevor; Tan, Swee T

    2015-06-01

    The authors present a case of PHACE(S) (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, eye anomalies, and sternal cleft or supraumbilical raphe) syndrome with a right-sided segmental infantile hemangioma, and describe in detail, the associated absent ipsilateral intracranial internal carotid artery and anomalous Circle of Willis. Propranolol therapy led to accelerated, complete involution. Nadolol may reduce the theoretical risk of treating PHACE(S) patients with β-blockers. PMID:26080245

  13. Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect

    Directory of Open Access Journals (Sweden)

    L. Rozendaal

    2011-01-01

    Full Text Available We describe an infant presenting with contractures of the fingers, a large ventricular septal defect (VSD, and severe pulmonary artery dilatation. He had clinical and echocardiographic features of both neonatal or infantile Marfan syndrome (MFS and congenital contractural arachnodactyly. After surgical VSD closure, the aortic root developed progressive dilatation while the size of pulmonary artery returned to normal limits. Eventually the diagnosis of MFS was confirmed by DNA analysis.

  14. Variant Turner Syndrome With 46, X, i(Xq Karyotype: A Case Report

    Directory of Open Access Journals (Sweden)

    Mahmut Balkan

    2005-01-01

    Full Text Available Case was 14 years-old girl having complaints of growth retardations and primary amenorrhea. In the physical and gynecological examinations; her height and weight were 130 cm and 45 kg, respectively and secondary sex characteristics were infantile and hymen annular was intact and the depth of vagina was 7 cm and, palpitate of pelvis was empty. The case did not show broad chest, neck webbing and low posterior hairline. Uterus dimensions were 11x7x4 mm and ovaries were not seen in ultrasonographyic examination. Karyotypes in the peripheral blood cells were variant Turner Syndrome with isochromosome Xq constitution; 46,X, i(Xq, so made detailed laboratory analysis. She had high plasma gonadotropin and low estradiol and progesterone and slightly high plasma TSH and slightly low free T3 and T4 hormone levels. Ultrasonography showed that thyroid was diffuse. Insulin and growth hormone levels were normal. The bone age was 10-11 year and compatible with her age. IQ test in the patient was found the normal. In the variant turner syndrome, clinic table was slighter than Classic Turner Syndrome as in our case.

  15. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

    Science.gov (United States)

    Seifert, Wenke; Holder-Espinasse, Muriel; Kühnisch, Jirko; Kahrizi, Kimia; Tzschach, Andreas; Garshasbi, Masoud; Najmabadi, Hossein; Walter Kuss, Andreas; Kress, Wolfram; Laureys, Geneviève; Loeys, Bart; Brilstra, Eva; Mancini, Grazia M S; Dollfus, Hélène; Dahan, Karin; Apse, Kira; Hennies, Hans Christian; Horn, Denise

    2009-02-01

    Cohen syndrome is characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in COH1 (VPS13B) have been found in patients with Cohen syndrome from diverse ethnic origins. We have carried out mutation analysis in twelve novel patients with Cohen syndrome from nine families. In this series, we have identified 13 different mutations in COH1, twelve of these are novel including six frameshift mutations, four nonsense mutations, two splice site mutations, and a one-codon deletion. Since different transcripts of COH1 have been reported previously, we have analysed the expression patterns of COH1 splice variants. The transcript variant NM_152564 including exon 28b showed ubiquitous expression in all examined human tissues. In contrast, human brain and retina showed differential splicing of exon 28 (NM_017890). Moreover, analysis of mouse tissues revealed ubiquitous expression of Coh1 homologous to human NM_152564 in all examined tissues but no prevalent alternative splicing. PMID:19006247

  16. [A typical syndrome of the sulco-commissural arteries].

    Science.gov (United States)

    Szyrocka-Szwed, K; Maliszewski, M; Syc, B; Macyszyn, G

    1988-01-01

    Flaccid tetraparesis was observed in a young woman which was caused by embolism of the anterior medullary artery. Topographic investigations of the spinal arteries were carried out, and pathological examination was done confirming the presence of embolic material which was the cause of medullary ischaemia. PMID:3226481

  17. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Chen, Wuyan; Perritt, Ashley F; Morissette, Rachel; Dreiling, Jennifer L; Bohn, Markus-Frederik; Mallappa, Ashwini; Xu, Zhi; Quezado, Martha; Merke, Deborah P

    2016-09-01

    Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. Two types of CAH tenascin-X (CAH-X) chimeras have been described with a total deletion of CYP21A2 and characteristic TNXB variants. CAH-X CH-1 has a TNXB exon 35 120-bp deletion resulting in haploinsufficiency, and CAH-X CH-2 has a TNXB exon 40 c.12174C>G (p.Cys4058Trp) variant resulting in a dominant-negative effect. We present here three patients with biallelic CAH-X and identify a novel dominant-negative chimera termed CAH-X CH-3. Compared with monoallelic CAH-X, biallelic CAH-X results in a more severe phenotype with skin features characteristic of classical EDS. We present evidence for disrupted tenascin-X function and computational data linking the type of TNXB variant to disease severity. PMID:27297501

  18. Variants of the Mitochondrial Displacement Loop in Patients with Myelodysplastic Syndromes

    Institute of Scientific and Technical Information of China (English)

    Xiaojing Hu; Yaqin Cong; Conggao Xu; Jinbo Feng; Yujie Jiang; Hong Jin

    2008-01-01

    OBJECTIVE Some mtDNA mutations have been detected in patients with myelodysplastic syndromes (MDSs).As the noncoding region of mitochondria,the displacement loop (D-loop)region of mtDNA contains important elements for mtDNA replication and transcription.Variants of the D-loop region were found to be related to the cause of many diseases.The aim of our study was to investigate mutations and single nucleotide polymorphisms in the D-loop region of MDS patients.METHODS The mutations and SNPs in the hypervariable regions of the D-loop were detected by direct sequencing in MDS patients and normal controls.RESULTS Sixty-four SNPs were found in the D-loop region in MDS cases and control group.Among the SNPs,the 16,189 variant (T > C transition) was found to have an increased frequency in the MDS group (P = 0.044).However,no mutations were detected in neither group.CONCLUSION Our data provide evidence for a highly polymorphic D-loop region in patients with MDS,but do not support the presence of mutations in the mitochondrial D-loop region in MDS cases.The mtDNA T16,189C variant,which may be a functional variant,is associated with increased susceptibility to a MDS.

  19. Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

    International Nuclear Information System (INIS)

    Noonan syndrome is a constellation of congenital malformations including heart defects, facial anomalies and short stature. The cardiovascular defects are variable and extensive, with the most common being pulmonary stenosis and hypertrophic cardiomyopathy. Coronary artery anomalies have only been reported in a few cases. We report a child with Noonan syndrome status post pulmonary stenosis and atrial septal defect repair, who developed bilateral coronary artery aneurysms. The aneurysms were diagnosed with both cardiac magnetic resonance imaging and coronary computed tomography angiography. There had been no evidence of them on a cardiac MR exam 5 years previously. (orig.)

  20. Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mauro, David M.; Flors, Lucia; Norton, Patrick T.; Hagspiel, Klaus D. [University of Virginia Health System, Department of Radiology and Medical Imaging, Charlottesville, VA (United States); Hoyer, Andrew W. [University of Virginia Health System, Department of Pediatrics, Division of Pediatric Cardiology, Charlottesville, VA (United States); Pediatric Cardiology Center of Oregon, Portland, OR (United States)

    2016-03-15

    Noonan syndrome is a constellation of congenital malformations including heart defects, facial anomalies and short stature. The cardiovascular defects are variable and extensive, with the most common being pulmonary stenosis and hypertrophic cardiomyopathy. Coronary artery anomalies have only been reported in a few cases. We report a child with Noonan syndrome status post pulmonary stenosis and atrial septal defect repair, who developed bilateral coronary artery aneurysms. The aneurysms were diagnosed with both cardiac magnetic resonance imaging and coronary computed tomography angiography. There had been no evidence of them on a cardiac MR exam 5 years previously. (orig.)

  1. Development of bilateral coronary artery aneurysms in a child with Noonan syndrome.

    Science.gov (United States)

    Mauro, David M; Flors, Lucia; Hoyer, Andrew W; Norton, Patrick T; Hagspiel, Klaus D

    2016-03-01

    Noonan syndrome is a constellation of congenital malformations including heart defects, facial anomalies and short stature. The cardiovascular defects are variable and extensive, with the most common being pulmonary stenosis and hypertrophic cardiomyopathy. Coronary artery anomalies have only been reported in a few cases. We report a child with Noonan syndrome status post pulmonary stenosis and atrial septal defect repair, who developed bilateral coronary artery aneurysms. The aneurysms were diagnosed with both cardiac magnetic resonance imaging and coronary computed tomography angiography. There had been no evidence of them on a cardiac MR exam 5 years previously. PMID:26515448

  2. Coronary Artery Involvement of Williams Syndrome in Infants and Surgical Revascularization Strategy.

    Science.gov (United States)

    Federici, Duccio; Ranghetti, Arianna; Merlo, Maurizio; Terzi, Amedeo; Di Dedda, Giovanni Battista; Marcora, Simona; Marrone, Chiara; Ciuffreda, Matteo; Seddio, Francesco; Galletti, Lorenzo

    2016-01-01

    Williams syndrome (WS) is a genetic disorder due to deficiency of elastin gene expression. It is characterized by typical somatic abnormalities and a wide range of cardiovascular malformations. Coronary artery involvement is a frequent finding of the syndrome, particularly in those patients with severe supravalvular aortic stenosis. We present the case of an 11-month-old infant affected by WS who developed severe coronary artery disease 2 months after the surgical repair of supravalvular aortic stenosis. The clinical picture and successful surgical revascularization strategy is also described. PMID:26694280

  3. Severe Congenital Obstruction of the Left Main Coronary Artery Coexisting With Supravalvular Aortic Stenosis in Williams Syndrome: A Dangerous Association.

    Science.gov (United States)

    Szaflik, Katarzyna; Kaźmierczak, Piotr; Moll, Jacek Jan; Moll, Jadwiga Anna

    2016-03-01

    Congenital obstruction of the left main coronary artery is a complicating feature of supravalvular aortic stenosis. We describe an eight-month-old female patient with Williams syndrome, supravalvular aortic stenosis, and branch pulmonary artery stenosis, with concomitant anomaly of severe obstruction of the left coronary artery orifice. PMID:26582765

  4. Bilateral Internal Carotid Artery Occlusion Associated with the Antiphospholipid Antibody Syndrome

    Directory of Open Access Journals (Sweden)

    Pria Anand

    2014-03-01

    Full Text Available A 39-year-old woman presented with a right-hemispheric stroke 1 year after she had suffered a left-hemispheric stroke. Her diagnostic workup was notable for bilateral occlusions of the internal carotid arteries at their origins and a positive lupus anticoagulant antibody test. There was no evidence of carotid dissection or another identifiable cause for her carotid occlusions. These findings suggest that the antiphospholipid antibody syndrome may be implicated in the pathological changes that resulted in occlusions of the extracranial internal carotid arteries. Young stroke patients who present with unexplained internal carotid artery occlusions may benefit from testing for the presence of antiphospholipid antibodies.

  5. Arterial Hypertension in a Child with Williams-Beuren Syndrome (7q11.23 Chromosomal Deletion

    Directory of Open Access Journals (Sweden)

    Cristina de Sylos

    2002-08-01

    Full Text Available We report the case of a 7-year-old male child diagnosed with Williams-Beuren syndrome and arterial hypertension refractory to clinical treatment. The diagnosis was confirmed by genetic study. Narrowing of the descending aorta and stenosis of the renal arteries were also diagnosed. Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment.

  6. Minimally invasive surgery for superior mesenteric artery syndrome: A case report

    OpenAIRE

    Yao, Si-Yuan; Mikami, Ryuichi; Mikami, Sakae

    2015-01-01

    Superior mesenteric artery (SMA) syndrome is defined as a compression of the third portion of the duodenum by the abdominal aorta and the overlying SMA. SMA syndrome associated with anorexia nervosa has been recognized, mainly among young female patients. The excessive weight loss owing to the eating disorder sometimes results in a reduced aorto-mesenteric angle and causes duodenal obstruction. Conservative treatment, including psychiatric and nutritional management, is recommended as initial...

  7. Effects of unsteadiness and non-Newtonian rheology on blood flow through a tapered time-variant stenotic artery

    Directory of Open Access Journals (Sweden)

    A. Zaman

    2015-03-01

    Full Text Available A two-dimensional model is used to analyze the unsteady pulsatile flow of blood through a tapered artery with stenosis. The rheology of the flowing blood is captured by the constitutive equation of Carreau model. The geometry of the time-variant stenosis has been used to carry out the present analysis. The flow equations are set up under the assumption that the lumen radius is sufficiently smaller than the wavelength of the pulsatile pressure wave. A radial coordinate transformation is employed to immobilize the effect of the vessel wall. The resulting partial differential equations along with the boundary and initial conditions are solved using finite difference method. The dimensionless radial and axial velocity, volumetric flow rate, resistance impedance and wall shear stress are analyzed for normal and diseased artery with particular focus on variation of these quantities with non-Newtonian parameters.

  8. Isolated single coronary artery presenting as acute coronary syndrome: case report and review.

    Science.gov (United States)

    Mahapatro, Anil K; Patro, A Sarat K; Sujatha, Vipperala; Sinha, Sudhir C

    2014-06-01

    Congenital single coronary artery is commonly associated with complex congenital heart diseases and manifests in infancy or childhood. But isolated single coronary artery is a rare congenital anomaly which can present as acute coronary syndrome in adults. The aim of the work is to discuss on isolated single coronary artery in two adults presenting as acute coronary syndrome. The first case underwent coronary angiography (CAG) through right radial route, but switched over to femoral for confirmation of diagnosis and due to radial spasm. An aortic root angiogram was done to rule out presence of any other coronary ostia. It revealed a single coronary artery originating from right sinus of valsalva. After giving rise to posterior descending artery branch at crux, it continued in the atrioventricular groove to the anterior basal surface of the heart and traversed as anterior descending artery. There was no atheromatous occlusive stenosis. This is R-I type single coronary artery as per Lipton classification. In the second case, angiography was completed through right radial route. It revealed a single coronary artery arising from right aortic sinus. Anterior descending and circumflex branch were originating from proximal common trunk of the single coronary artery and supplying the left side of the heart. The right coronary artery has diffuse atheromatous disease without significant stenosis in any major branch. This is R-III C type as per Lipton classification. A coronary anomaly of both origin and course is very rare. It may be encountered in adults evaluated for atherosclerotic coronary heart disease. Knowledge and understanding of anatomical types of this congenital anomaly will reduce time, anxiety, complications during CAG and cardiac surgery. PMID:25075168

  9. Mannose-binding lectin variant alleles and the risk of arterial thrombosis in systemic lupus erythematosus

    DEFF Research Database (Denmark)

    Øhlenschlaeger, Tommy; Garred, Peter; Madsen, Hans O;

    2004-01-01

    Cardiovascular disease is an important complication in patients with systemic lupus erythematosus (SLE). Variant alleles of the mannose-binding lectin gene are associated with SLE as well as with severe atherosclerosis. We determined whether mannose-binding lectin variant alleles were associated...

  10. Circulating oxidized low-density lipoproteins and arterial elasticity: comparison between men with metabolic syndrome and physically active counterparts

    OpenAIRE

    Pohjantähti-Maaroos Hanna; Palomäki Ari; Kankkunen Päivi; Laitinen Ruth; Husgafvel Sari; Oksanen Kalevi

    2010-01-01

    Abstract Background Accumulation of oxidized low-density lipoproteins in the intimae of arteries and endothelial dysfunction are key events in the development of atherosclerosis. Patients with metabolic syndrome are at high risk for cardiovascular diseases but the linkage between metabolic syndrome and atherosclerosis is incompletely understood. We studied whether the levels of oxidized LDL and arterial elasticity differ between metabolic syndrome patients and physically active controls. Meth...

  11. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

    NARCIS (Netherlands)

    Mencarelli, M.A.; Kleefstra, T.; Katzaki, E.; Papa, F.T.; Cohen, M.; Pfundt, R.P.; Ariani, F.; Meloni, I.; Mari, F.; Renieri, A.

    2009-01-01

    Only two patients with 14q12 deletion have been reported to date. Here, we describe an additional patient with a similar deletion in order to improve the clinical delineation of this new microdeletion syndrome. The emerging phenotype is characterized by a Rett-like clinical course with an almost nor

  12. Acute Coronary Syndrome Due to Spontaneous Coronary Artery Dissection in a Middle-Aged Man

    Directory of Open Access Journals (Sweden)

    Davran Cicek

    2014-08-01

    Full Text Available True spontaneous coronary artery dissection (SCAD is an extremely rare but important cause of acute coronary syndrome, with only about 200 cases reported in the literature. Diagnosis is often made at autopsy. Risk factors include oral contraceptive use, atherosclerotic disease and the peripartum period. SCAD should be considered when a healthy young patient presents with the onset of acute myocardial ischemic syndrome. A timely diagnosis and intervention are mandatory as SCAD can cause sudden death. We present a case of SCAD with an uncommon clinical presentation of acute coronary syndrome and without identifiable risk factors, and successfully treated with non-invasive (medical therapy.

  13. Metachronous Bilateral Posterior Tibial Artery Aneurysms in Ehlers-Danlos Syndrome Type IV

    International Nuclear Information System (INIS)

    Ehlers-Danlos syndrome type IV is a life-threatening genetic connective tissue disorder. We report a 24-year-old woman with EDS-IV who presented with metachronous bilateral aneurysms/pseudoaneurysms of the posterior tibial arteries 15 months apart. Both were treated successfully with transarterial coil embolization from a distal posterior tibial approach.

  14. Dipyridamole Body Surface Potential Mapping: Noninvasive Differentiation of Syndrome X from Coronary Artery Disease

    Czech Academy of Sciences Publication Activity Database

    Boudík, F.; Anger, Z.; Aschermann, M.; Vojáček, J.; Tomečková, Marie

    2002-01-01

    Roč. 35, č. 3 (2002), s. 181-191. ISSN 0022-0736 R&D Projects: GA MZd IZ4038 Keywords : body surface potential mapping * dipyridamole * coronary artery disease * syndrome X Subject RIV: BD - Theory of Information Impact factor: 0.599, year: 2002

  15. [Superior mesenteric artery syndrome after surgical correction of severe dorso-lumbar deformities. Authors' experience].

    Science.gov (United States)

    Massaioli, N; Rastel-Bogin, P; Schieroni, R; Brayda-Bruno, M; Villata, E; Bonatti, L; Redivo, L; Galliano, R; Busch, R; Borello, G

    1995-12-01

    The authors report two cases of superior mesenteric artery syndrome observed in 22 operations for severe spinal deformities. Medical, dietary and postural treatment enabled the situation to be resolved in one case; whereas an intestinal derotation according to Strong-Valdoni was successfully performed in the other. The various surgical alternatives are discussed. PMID:8725066

  16. Circulating endothelial cells in coronary artery disease and acute coronary syndrome

    NARCIS (Netherlands)

    Schmidt, David E; Manca, Marco; Höfer, Imo E

    2015-01-01

    Circulating endothelial cells (CECs) have been put forward as a promising biomarker for diagnosis and prognosis of coronary artery disease and acute coronary syndromes. This review entails current insights into the physiology and pathobiology of CECs, including their relationship with circulating en

  17. Association of severe myoclonic epilepsy of infancy (SMEI with probable autoimmune lymphoproliferative syndrome-variant

    Directory of Open Access Journals (Sweden)

    A. Berio

    2014-12-01

    Full Text Available The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease (DALD. A male patient with typical features of SMEI and a SCN1A gene variant presented in the first year of life with multiple lymph nodes, palpable liver at 2 cm from the costal margin, neutropenia, dysgammaglobulinemia, relative and sometimes absolute lymphocytosis. Subsequently the patient presented with constantly raised IgA in serum and positive antinuclear and thyroid antimicrosomal antibodies. The diagnosis of probable autoimmune lymphoproliferative syndrome was made; arthritis, skin and throat blisters, which appeared subsequently led to the diagnosis of linear IgA disease. On the basis of these unique associations, the Authors hypothesized that autoimmunity may be partly responsible of the severe epileptic symptomatology, perhaps mediated by autoantibodies against sodium channels or by accompanying cytotoxic T-lymphocytes. Corticosteroid treatment ameliorated the epilepsy and laboratory tests. Future studies will be necessary to evaluate the relevance of autoimmunity in SMEI.

  18. De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

    Science.gov (United States)

    Langlois, Sylvie; Tarailo-Graovac, Maja; Sayson, Bryan; Drögemöller, Britt; Swenerton, Anne; Ross, Colin Jd; Wasserman, Wyeth W; van Karnebeek, Clara Dm

    2016-06-01

    PEHO syndrome (OMIM no. 260565) is characterized by myoclonic jerking and infantile spasms, profound psychomotor retardation with the absence of motor milestones and speech, absence or early loss of visual fixation with atrophy of optic discs by 2 years of age and progressive brain atrophy on neuroimaging. We describe the results of a genomic study of a girl with PEHO syndrome and review the literature on cases with a disease-causing variant in the same gene. Exome sequencing of the index and unaffected parents followed by Sanger confirmation identified nine candidate genes harboring nonsynonymous rare variants identified by trio whole-exome sequencing. The de novo variant, a missense variant (c.296C>T, p.(T99M)), affecting the motor domain of KIF1A was considered the pathogenic mutation. The literature review revealed 24 cases with disease-causing variants in the motor domain of KIF1A, of which three met all the criteria for PEHO syndrome and an additional patient with incomplete clinical data met four of the five criteria. If the criteria were modified to include cases with any convulsive disorder and less profound intellectual disability, a total of six patients met all five of the criteria, three patients met four of the criteria and six met three of the criteria. Our results indicate that the molecular basis for PEHO syndrome, in at least a subset of patients, is a dominant KIF1A variant affecting the motor domain of the protein. Variable expressivity is seen with recurrent variants causing the full phenotype of PEHO syndrome in some patients and in other patients, a partial or milder PEHO phenotype. PMID:26486474

  19. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

    OpenAIRE

    Vargas-Poussou, R; Feldmann, D. (Dirk); Vollmer, M.; Konrad, M; Kelly, L.; van den Heuvel, L.P.; Tebourbi, L; Brandis, M.; Karolyi, L.; Hebert, S C; Lemmink, H.H.; Deschênes, G.; Hildebrandt, F.; Seyberth, H. W.; Guay-Woodford, L.M.

    1998-01-01

    Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. We have analyzed 15 probands belonging to 13 families and have performe...

  20. Spontaneous coronary artery dissection causing acute coronary syndrome in a young patient without risk factors

    Directory of Open Access Journals (Sweden)

    Parag Chevli

    2014-09-01

    Full Text Available Spontaneous coronary artery dissection (SCAD is a rare cause of acute myocardial infarction that is more common in younger patients (under age 50 and in women. Although the etiology is not known, some predisposing conditions to SCAD are well known and include Marfan syndrome, pregnancy and peripartum state, drug abuse, and some anatomical abnormalities of the coronary arteries such as aneurysms and severe kinking. We describe a case of SCAD in a young woman who presented with sudden onset of chest pain and was admitted for the treatment of acute coronary syndrome. The coronary angiography showed dissection of the left anterior descending artery. The patient underwent successful percutaneous transluminal coronary angioplasty and stent placement.

  1. Variant Guillain-Barré Syndrome in a Patient with Non-Hodgkin’s Lymphoma

    Directory of Open Access Journals (Sweden)

    R. H. Bishay

    2015-01-01

    Full Text Available We report a 72-year-old female patient with diffuse large B cell non-Hodgkin’s lymphoma (NHL with previous treatment with standard chemotherapy presenting as an acute, ascending, sensorimotor polyneuropathy. Nerve conduction studies and lumbar puncture supported a rare, but ominous, axonal variant of Guillain-Barré Syndrome (GBS known as acute motor and sensory axonal neuropathy (AMSAN, which is distinguished from the more common, acute demyelinating forms of GBS. Previous reports have largely focused on toxicities secondary to chemo- or radiotherapy as a major contributor to the development of acute neuropathies in malignancy. Clinicians should also be mindful of direct neoplastic invasion or, less commonly, paraneoplastic phenomenon, as alternative mechanisms, the latter possibly reflecting immune dysregulation in particularly aggressive lymphomas. At the time of writing, this is the first report in the literature of an axonal variant of GBS in a patient with diffuse large B cell NHL. A discussion regarding common and uncommon neuropathies in haematological malignancies is made, with a brief review of the anecdotal evidence supporting a paraneoplastic association with GBS or its variant forms in the setting of lymphoma.

  2. No association of primary Sjögren's syndrome with Fcγ receptor gene variants.

    Science.gov (United States)

    Haldorsen, K; Appel, S; Le Hellard, S; Bruland, O; Brun, J G; Omdal, R; Kristjansdottir, G; Theander, E; Fernandes, C P D; Kvarnström, M; Eriksson, P; Rönnblom, L; Herlenius, M W; Nordmark, G; Jonsson, R; Bolstad, A I

    2013-06-01

    The genetic background of primary Sjögren's syndrome (pSS) is partly shared with systemic lupus erythematosus (SLE). Immunoglobulin G Fc receptors are important for clearance of immune complexes. Fcγ receptor variants and gene deletion have been found to confer SLE risk. In this study, four Fcγ receptor single-nucleotide polymorphisms (SNPs) and one copy number variation (CNV) were studied. Swedish and Norwegian pSS patients (N=527) and controls (N=528) were genotyped for the Fcγ receptor gene variant FCGR2A H131R (rs1801274) by the Illumina GoldenGate assay. FCGR3A F158V (rs396991) was analysed in 488 patients and 485 controls, FCGR3B rs447536 was analysed in 471 patients and 467 controls, and FCGR3B rs448740 was analysed in 478 cases and 455 controls, using TaqMan SNP genotyping assays. FCGR3B CNV was analysed in 124 patients and 139 controls using a TaqMan copy number assay. None of the SNPs showed any association with pSS. Also, no FCGR3B CNV association was detected. The lack of association of pSS with Fcγ receptor gene variants indicates that defective immune complex clearance may not be as important in pSS pathogenesis as in SLE, and may point to important differences between SLE and pSS. PMID:23552400

  3. CT perfusion assessment of Moyamoya syndrome before and after direct revascularization (superficial temporal artery to middle cerebral artery bypass)

    International Nuclear Information System (INIS)

    To evaluate the utility of CT perfusion (CTP) for the assessment of superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis in patients with Moyamoya syndrome (MMS). Twenty-four consecutive MMS patients, who underwent unilateral STA-MCA bypass surgery, received CTP before and after surgery. The relative perfusion parameter values of surgical hemispheres before treatment were compared with post-treatment values. All patients underwent CT angiography (CTA) before and after surgery in order to confirm the patency of bypass. The follow-up CTA after surgery clearly demonstrated 20 (20/24, 83.3 %) bypass arteries, whereas four (16.7 %) bypass arteries were occluded or very small. Postoperative rMTT and rTTP values (P < 0.05) of the surgical side were significantly lower than pre-operation. In patients (n = 20) with bypass patency, postoperative rCBF, rMTT and rTTP values (P < 0.05) of the surgical side were significantly improved. However, the differences of all parameters were not significant (P > 0.05) in the patients (n = 4) without bypass patency after revascularization. This study demonstrates that CTP can provide a crucial quantitative assessment of cerebral haemodynamic changes in MMS before and after STA-MCA anastomosis. (orig.)

  4. CT perfusion assessment of Moyamoya syndrome before and after direct revascularization (superficial temporal artery to middle cerebral artery bypass)

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Yueqin [Hospital of Qingdao University, Department of Radiology, Qingdao (China); Hospital of Jining Medical College, CT Department, Jining (China); Xu, Wenjian [Hospital of Qingdao University, Department of Radiology, Qingdao (China); Guo, Xiang; Shi, Zhitao; Sun, Zhanguo; Wang, Jiehuan [Hospital of Jining Medical College, CT Department, Jining (China); Gao, Lingyun [Hospital of Jining Medical College, MR Department, Jining (China); Jin, Feng [Hospital of Jining Medical College, Department of Neurosurgery, Jining (China); Chen, Weijian; Yang, Yunjun [Hospital of Wenzhou Medical University, Department of Radiology, Wenzhou (China)

    2016-01-15

    To evaluate the utility of CT perfusion (CTP) for the assessment of superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis in patients with Moyamoya syndrome (MMS). Twenty-four consecutive MMS patients, who underwent unilateral STA-MCA bypass surgery, received CTP before and after surgery. The relative perfusion parameter values of surgical hemispheres before treatment were compared with post-treatment values. All patients underwent CT angiography (CTA) before and after surgery in order to confirm the patency of bypass. The follow-up CTA after surgery clearly demonstrated 20 (20/24, 83.3 %) bypass arteries, whereas four (16.7 %) bypass arteries were occluded or very small. Postoperative rMTT and rTTP values (P < 0.05) of the surgical side were significantly lower than pre-operation. In patients (n = 20) with bypass patency, postoperative rCBF, rMTT and rTTP values (P < 0.05) of the surgical side were significantly improved. However, the differences of all parameters were not significant (P > 0.05) in the patients (n = 4) without bypass patency after revascularization. This study demonstrates that CTP can provide a crucial quantitative assessment of cerebral haemodynamic changes in MMS before and after STA-MCA anastomosis. (orig.)

  5. Transcriptome Analysis and Gene Identification in the Pulmonary Artery of Broilers with Ascites Syndrome

    Science.gov (United States)

    Xiao, Qingyang; Guo, Xiaoquan; Zhuang, Yu; Zhang, Caiying; Wang, Tiancheng; Lin, Huayuan; Song, Yalu; Hu, Guoliang; Liu, Ping

    2016-01-01

    Background Pulmonary arterial hypertension, also known as Ascites syndrome (AS), remains a clinically challenging disease with a large impact on both humans and broiler chickens. Pulmonary arterial remodeling presents a key step in the development of AS. The precise molecular mechanism of pulmonary artery remodeling regulating AS progression remains unclear. Methodology/Principal Findings We obtained pulmonary arteries from two positive AS and two normal broilers for RNA sequencing (RNA-seq) analysis and pathological observation. RNA-seq analysis revealed a total of 895 significantly differentially expressed genes (DEGs) with 437 up-regulated and 458 down-regulated genes, which were significantly enriched to 12 GO (Gene Ontology) terms and 4 KEGG (Kyoto Encyclopedia of Genes and Genomes) pathways (Padj<0.05) regulating pulmonary artery remodeling and consequently occurrence of AS. These GO terms and pathways include ribosome, Jak-STAT and NOD-like receptor signaling pathways which regulate pulmonary artery remodeling through vascular smooth cell proliferation, inflammation and vascular smooth cell proliferation together. Some notable DEGs within these pathways included downregulation of genes like RPL 5, 7, 8, 9, 14; upregulation of genes such as IL-6, K60, STAT3, STAT5 Pim1 and SOCS3; IKKα, IkB, P38, five cytokines IL-6, IL8, IL-1β, IL-18, and MIP-1β. Six important regulators of pulmonary artery vascular remodeling and construction like CYP1B1, ALDH7A1, MYLK, CAMK4, BMP7 and INOS were upregulated in the pulmonary artery of AS broilers. The pathology results showed that the pulmonary artery had remodeled and become thicker in the disease group. Conclusions/Significance Our present data suggested some specific components of the complex molecular circuitry regulating pulmonary arterial remodeling underlying AS progression in broilers. We revealed some valuable candidate genes and pathways that involved in pulmonary artery remodeling further contributing to the AS

  6. Unertan syndrome: a new variant of Unertan syndrome: running on all fours in two upright-walking children.

    Science.gov (United States)

    Tan, Uner; Tan, Meliha

    2009-01-01

    A new variant of Unertan Syndrome (UTS) is described in two Turkish children who exhibit both bipedal and quadrupedal locomotion and have normal cognitive abilities, including speech and intelligence. Quadrupedal locomotion was used by these individuals for rapid motivity when needed. An X-linked autosomal recessive transmission appears to be responsible for the UTS trait, with no intrafamilial marriages. The children did not show any neurological signs and symptoms except for a positive Babinski sign and an inability to perform a tandem walk. The results suggest that quadrupedality may result from using ancestral neural networks when needed. The preference for the quadrupedal gait as a hidden skill may be an example of learned dynamical adaptation to limited motor control, pointing out a phase transition in system dynamical terms. Human quadrupedality may have important consequences regarding human evolution with respect to the transition from quadrupedalism to bipedalism, which is generally recognized as important trait in the hominization process during human evolution. PMID:19466629

  7. HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report.

    Science.gov (United States)

    Stur, E; Reis, R S; Agostini, L P; Silva-Conforti, A M A; Louro, I D

    2016-01-01

    Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme encoded by the HPRT1 gene. The classic disease phenotype described by Lesch and Nyhan in 1964 includes hyperuricemia, mental retardation, severe motor deficiency, and recurring self-mutilation. Here, we report the case of a family with 4 affected males and several female obligate carriers. In 1989, Fujimori et al. reported on a patient diagnosed with LNS who had an HPRT variant thereafter codenamed HPRTYale. The same patient was studied by Wilson et al. in 1986, who found no detectable HPRT enzymatic activity, even though normal HPRT mRNA and protein levels were observed. Disease severity is closely related to residual enzymatic activity, which fits the phenotype presented for this previously reported case, as well as for the patients we report on herein. As it has been reported in only one patient, this mutation is still considered a variant of unknown significance. The HPRTYale mutation is a G>C transversion that leads to a different amino acid with different biochemical properties at position 71, potentially causing the major lack of function. To evaluate the impact of this variant, we used the PolyPhen-2 software, which classified it as possibly damaging. Furthermore, the frequency of this mutant allele is likely extremely rare, since it has only been reported on twice, and a population frequency is not yet available. In conclusion, we propose that the HPRTYale variant is pathogenic, and should be included on lab reports hereafter. PMID:27420966

  8. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

    Science.gov (United States)

    May, Patrick; Thiele, Holger; Lehesjoki, Anna-Elina; Schwarz, Günter; Riesch, Erik; Ikram, M. Arfan; van Duijn, Cornelia M.; Uitterlinden, Andre G.; Hofman, Albert; Steinböck, Hannelore; Gruber-Sedlmayr, Ursula; Neophytou, Birgit; Zara, Federico; Hahn, Andreas; Gormley, Padhraig; Becker, Felicitas; Weber, Yvonne G.; Cilio, Maria Roberta; Kunz, Wolfram S.; Krause, Roland; Zimprich, Fritz; Lemke, Johannes R.; Nürnberg, Peter; Sander, Thomas; Lerche, Holger; Neubauer, Bernd A.

    2016-01-01

    Objective The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic. Methods We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for previously reported SCN1A mutations that were assumed to be disease causing. We re-evaluated the evidence for pathogenicity of the identified variants using in silico predictions, segregation, original reports, available functional data and assessment of allele frequencies in healthy individuals as well as in a follow up cohort of 777 patients. Results and Interpretation We identified 8 known missense mutations, previously reported as pathogenic, in a total of 17 unrelated epilepsy patients (17/448; 3.80%). Our re-evaluation indicates that 7 out of these 8 variants (p.R27T; p.R28C; p.R542Q; p.R604H; p.T1250M; p.E1308D; p.R1928G; NP_001159435.1) are not pathogenic. Only the p.T1174S mutation may be considered as a genetic risk factor for epilepsy of small effect size based on the enrichment in patients (P = 6.60 x 10−4; OR = 0.32, fishers exact test), previous functional studies but incomplete penetrance. Thus, incorporation of previous studies in genetic counseling of SCN1A sequencing results is challenging and may produce incorrect conclusions. PMID:26990884

  9. Analysis of TFGBR1*6A variant in individuals evaluated for Marfan syndrome.

    Science.gov (United States)

    Somers, Allyson E; Hinton, Robert B; Pilipenko, Valentina; Miller, Erin; Ware, Stephanie M

    2016-07-01

    Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are genetic disorders that affect connective tissue as a result of dysregulated TGF-β signaling. MFS is most frequently caused by mutations in FBN1 whereas Loeys-Dietz syndrome results from mutations in TGFBR1 or TGFBR2. There is substantial inter- and intra-familial phenotypic variability among these disorders, suggesting the presence of genetic modifiers. Previously, a polymorphism in the TGFβR1 protein termed the TFGBR1*6A allele was found to be overrepresented in patients with MFS and was identified as a low penetrance allele with suggestion as a possible modifier. To further investigate the importance of this variant, a retrospective review of genetic and phenotypic findings was conducted for 335 patients evaluated for suspicion of MFS or related disorders. In patients with a diagnosis of MFS, the presence of the TFGBR1*6A allele was not associated with phenotypic differences. Similarly, careful phenotyping of patients who carried the TFGBR1*6A allele but did not have MFS did not identify an altered frequency of specific connective tissue features. In this small cohort, the results did not reach significance to identify the TFGBR1*6A allele as a major modifier for aortic dilation, ectopia lentis, or systemic features associated with MFS or other connective tissue disorders. © 2016 Wiley Periodicals, Inc. PMID:27112580

  10. Weber's syndrome with recovery ct demonstration of an end-zone infarction in the territory of the mesencephalic artery

    Directory of Open Access Journals (Sweden)

    R. Oliveira-Souza

    1991-03-01

    Full Text Available Weber's syndrome is one of the classically described brainstem syndromes. The mesencephalic artery and the syndromes resulting from occlusion of its branches have been attracting increasing interest in the past few years. We present here a case of Weber's syndrome emphasizing that (1 it is one of the major syndromes deriving from infarction in the territory of the mesencephalic artery; (2 that at least two clinical patterns of Weber's syndrome may be distinguished on the basis of the presence or lack of abnormal somnolence, mental confusion, and abulia; and (3 that each one of these patterns seems to be correlated with damage to distinct zones within the general territory of the mesencephalic artery.

  11. Effect of oral garlic on arterial oxygen pressure in children with hepatopulmonary syndrome

    Institute of Scientific and Technical Information of China (English)

    Mehri Najafi Sani; Hamid Reza Kianifar; Abdolrazagh Kianee; Gholamreza Khatami

    2006-01-01

    AIM: To study the effect of oral garlic on arterial oxygen pressure in children with hepatopulmonary syndrome.METHODS: Garlic powder in a capsule form was given to 15 children with hepatopulmonary syndrome (confirmed by contrast echocardiography) at the dosage of 1g/1.73 m2 per day. Patients were evaluated clinically and by arterial blood gas every four weeks.RESULTS: The garlic capsule was administered to 15patients with hepatopulmonary syndrome. There were 10 boys and 5 girls with a mean age of 9.4±3.9 years.The underlying problems were biliary tract atresia (4patients), autoimmune hepatitis (4 patients), cryptogenic cirrhosis (4 patients) and presinusoidal portal hypertension (3 patients). Eight patients (53.3%) showed an increase of 10 mmHg in their mean arterial oxygen pressure. The baseline PaO2 was 65.6±12.1 mmHg in the responder group and 47.1±11.2 mmHg in nonresponder group. At the end of treatment the mean PaO2 in responders and non-responders was 92.2±7.75mmHg and 47.5±11.87 mmHg, respectively (P<0.01).CONCLUSION: Garlic may increase oxygenation and improve dyspnea in children with hepatopulmonary syndrome.

  12. Indications, algorithms, and outcomes for coronary artery bypass surgery in patients with acute coronary syndromes.

    Science.gov (United States)

    Yerokun, Babatunde A; Williams, Judson B; Gaca, Jeffrey; Smith, Peter K; Roe, Matthew T

    2016-06-01

    For patients with a non-ST-segment elevation acute coronary syndrome (NSTE-ACS), guideline recommendations and treatment pathways focus on revascularization for definitive treatment if the patient is an appropriate candidate. Despite the widespread use of revascularization for NSTE-ACS, most patients undergo a percutaneous coronary intervention, whereas a minority of patients undergo coronary artery bypass grafting. Focusing specifically on the USA, the contemporary utilization, preoperative and perioperative considerations, and outcomes of NSTE-ACS patients undergoing coronary artery bypass grafting have not been comprehensively reviewed. PMID:26945187

  13. Early Manifestation of Supravalvular Aortic and Pulmonary Artery Stenosis in a Patient with Williams Syndrome.

    Science.gov (United States)

    Lee, Jong Uk; Jang, Woo Sung; Lee, Young Ok; Cho, Joon Yong

    2016-04-01

    Williams syndrome (WS) is a developmental disorder characterized by vascular abnormalities such as thickening of the vascular media layer in medium- and large-sized arteries. Supravalvular aortic stenosis (SVAS) and peripheral pulmonary artery stenosis (PPAS) are common vascular abnormalities in WS. The natural course of SVAS and PPAS is variable, and the timing of surgery or intervention is determined according to the progression of vascular stenosis. In our patient, SVAS and PPAS showed rapid concurrent progression within two weeks after birth. We report the early manifestation of SVAS and PPAS in the neonatal period and describe the surgical treatment for stenosis relief. PMID:27066434

  14. Profiling Early Socio-Communicative Development in Five Young Girls with the Preserved Speech Variant of Rett Syndrome

    Science.gov (United States)

    Marschik, Peter B.; Kaufmann, Walter E.; Einspieler, Christa; Bartl-Pokorny, Katrin D.; Wolin, Thomas; Pini, Giorgio; Budimirovic, Dejan B.; Zappella, Michele; Sigafoos, Jeff

    2012-01-01

    Rett syndrome (RTT) is a developmental disorder characterized by regression of purposeful hand skills and spoken language, although some affected children retain some ability to speech. We assessed the communicative abilities of five young girls, who were later diagnosed with the preserved speech variant of RTT, during the pre-regression period…

  15. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

    DEFF Research Database (Denmark)

    Bergman, Jorieke E H; Janssen, Nicole; van der Sloot, Almer M; de Walle, Hermien E K; Schoots, Jeroen; Rendtorff, Nanna D; Tranebjaerg, Lisbeth; Hoefsloot, Lies H; van Ravenswaaij-Arts, Conny M A; Hofstra, Robert M W

    2012-01-01

    CHARGE syndrome is characterized by the variable occurrence of multisensory impairment, congenital anomalies, and developmental delay, and is caused by heterozygous mutations in the CHD7 gene. Correct interpretation of CHD7 variants is essential for genetic counseling. This is particularly diffic...

  16. [Axillary web syndrome--a variant of Mondor's disease, following excision of an accessory breast].

    Science.gov (United States)

    Shoham, Yaron; Rosenberg, Nir; Krieger, Yuval; Silberstein, Eldad; Arnon, Ofer; Bogdanov-Berezovsky, Alex

    2011-12-01

    Cording, an unusual form of superficial thrombophlebitis, is a variant of the disease first described by Fage in 1870 and subsequently characterized by Henry Mondor in 1939 as sclerosing thrombophlebitis of the subcutaneous veins of the anterior chest wall. Similar lesions have also been found in the penis, groin, abdomen, arm, and axilla and have been reported under a variety of names. In the axilla the condition is termed axillary web syndrome (AWS) and is seen after axillary lymph node dissection and sentinel lymph node biopsy. A recent report suggests that pathophysiology of AWS is lymphatic in origin rather than venous. We report a unique case of unilateral AWS after excision of an axillary accessory breast and discuss the pathophysiology. PMID:22352279

  17. Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

    Energy Technology Data Exchange (ETDEWEB)

    Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M. [Univ. of the Negev, Ashkelon (Israel)

    1995-12-04

    The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

  18. A migraine variant with abdominal colic and Alice in wonderland syndrome: a case report and review

    Directory of Open Access Journals (Sweden)

    Hamed Sherifa A

    2010-01-01

    Full Text Available Abstract Background Abdominal migraine is a commonly described migraine variant in children and young adults, but associations with Alice in Wonderland syndrome and lilliputian hallucinations are exceptional. Case presentation A 20 years-old male experienced frequent and prolonged attacks of abdominal colic associated with autonomic manifestations started at the age of ten. At the age of 17, he additionally described prolonged attacks (≥ 7 days of distortions of shape, size or position of objects or subjects. He said "Quite suddenly, objects appear small and distant (teliopsia or large and close (peliopsia. I feel as I am getting shorter and smaller "shrinking" and also the size of persons are not longer than my index finger (a lilliputian proportion. Sometimes I see the blind in the window or the television getting up and down, or my leg or arm is swinging. I may hear the voices of people quite loud and close or faint and far. Occasionally, I experience attacks of migrainous headache associated with eye redness, flashes of lights and a feeling of giddiness. I am always conscious to the intangible changes in myself and my environment". There is a strong family history of common migraine. Clinical examination, brain-MRI and EEG were normal. Transcranial magnetic stimulation and evoked potentials revealed enhanced cortical excitability in multiple brain regions. Treatment with valproate resulted in marked improvement of all clinical and neurophysiological abnormalities. Conclusions The association between the two migraine variants (abdominal migraine and Alice in Wonderland Syndrome might have clinical, pathophysiological and management implications. I think this is the first description in the literature.

  19. Association of vitamin D receptor gene variants with polycystic ovary syndrome: A case control study

    Science.gov (United States)

    Mahmoudi, Touraj; Majidzadeh-A, Keivan; Farahani, Hamid; Mirakhorli, Mojgan; Dabiri, Reza; Nobakht, Hossein; Asadi, Asadollah

    2015-01-01

    Background: Vitamin D and insulin play an important role in susceptibility to polycystic ovary syndrome (PCOS), and therefore vitamin D receptor (VDR), parathyroid hormone (PTH), and insulin receptor (INSR) gene variants might be involved in the pathogenesis of PCOS. Objective: The present study was designed to investigate the possible associations between polymorphisms in VDR, PTH, and INSR genes and the risk of PCOS. Materials and Methods: VDR, PTH, and INSR gene variants were genotyped in 35 women with PCOS and 35 controls using Polymerase chain reaction – Restriction fragment length polymorphism method. Furthermore, serum levels of glucose and insulin were measured in all participants. Results: No significant differences were observed for the VDR FokI, VDR Tru9I, VDR TaqI, PTH DraII, INSR NsiI, and INSR PmlI gene polymorphisms between the women with PCOS and controls. However, after adjustment for confounding factors, the VDR BsmI “Bb” genotype and the VDR ApaI "Aa" genotype were significantly under transmitted to the patients (p= 0.016; OR= 0.250; 95% CI= 0.081-0.769, and p= 0.017; OR= 0.260; 95% CI= 0.086-0.788, respectively). Furthermore, in the women with PCOS, insulin levels were lower in the participants with the INSR NsiI "NN" genotype compared with those with the "Nn + nn" genotypes (P= 0.045). Conclusion: The results showed an association between the VDR gene BsmI and ApaI polymorphisms and PCOS risk. These data also indicated that the INSR "NN" genotype was a marker of decreased insulin in women with PCOS. Our findings, however, do not lend support to the hypothesis that PTH gene DraII variant plays a role in susceptibility to PCOS. PMID:27141540

  20. Association of vitamin D receptor gene variants with polycystic ovary syndrome: A case control study

    Directory of Open Access Journals (Sweden)

    Touraj Mahmoudi

    2015-12-01

    Full Text Available Background: Vitamin D and insulin play an important role in susceptibility to polycystic ovary syndrome (PCOS, and therefore vitamin D receptor (VDR, parathyroid hormone (PTH, and insulin receptor (INSR gene variants might be involved in the pathogenesis of PCOS. Objective: The present study was designed to investigate the possible associations between polymorphisms in VDR, PTH, and INSR genes and the risk of PCOS. Materials and Methods: VDR, PTH, and INSR gene variants were genotyped in 35 women with PCOS and 35 controls using Polymerase chain reaction – Restriction fragment length polymorphism method. Furthermore, serum levels of glucose and insulin were measured in all participants. Results: No significant differences were observed for the VDR FokI, VDR Tru9I, VDR TaqI, PTH DraII, INSR NsiI, and INSR PmlI gene polymorphisms between the women with PCOS and controls. However, after adjustment for confounding factors, the VDR BsmI “Bb” genotype and the VDR ApaI "Aa" genotype were significantly under transmitted to the patients (p= 0.016; OR= 0.250; 95% CI= 0.081-0.769, and p= 0.017; OR= 0.260; 95% CI= 0.086-0.788, respectively. Furthermore, in the women with PCOS, insulin levels were lower in the participants with the INSR NsiI "NN" genotype compared with those with the "Nn + nn" genotypes (P= 0.045. Conclusion: The results showed an association between the VDR gene BsmI and ApaI polymorphisms and PCOS risk. These data also indicated that the INSR "NN" genotype was a marker of decreased insulin in women with PCOS. Our findings, however, do not lend support to the hypothesis that PTH gene DraII variant plays a role in susceptibility to PCOS.

  1. Artery of Percheron Infarction as an Unusual Cause of Korsakoff's Syndrome.

    Science.gov (United States)

    Zhou, Yongxing; Fox, Derrick; Anand, Abhishek; Elhaj, Amal; Kapoor, Arushi; Najibi, Faranak; Kim, Han; Weir, Roger; Jayam-Trouth, Annapurni

    2015-01-01

    The Korsakoff syndrome is defined as "an abnormal mental state in which memory and learning are affected out of all proportion to other cognitive functions in an otherwise alert and responsive patient." Confabulation refers to false or erroneous memories arising, not deliberately, in the context of a neurological amnesia and is often thought of as pathognomonic of the Korsakoff syndrome. Although the exact pathophysiology is unknown, various studies have identified brain lesions in the thalami, mammillary bodies, and frontal cortex. We report a case of a 68-year-old male presenting with acute altered mental status on July 16, 2015. The neuropsychological dysfunctions included prominent Korsakoff's syndrome, which became apparent when the altered mental status resolved. Amnesia was accompanied by prominent confabulation, disorientation, and lack of insight into his own disability. Neuroradiological data indicated that the intralaminar and dorsomedial nuclei in bilateral thalami were infarcted by occlusion of the artery of Percheron. We believe that ours is one of few reported cases of Korsakoff syndrome in a patient with infarction involving the territory of the artery of Percheron. We conclude that bilateral thalamic lesions could cause Korsakoff's syndrome and the intralaminar and dorsomedial nuclei might be important structures in the pathogenesis of confabulation. PMID:26688763

  2. Artery of Percheron Infarction as an Unusual Cause of Korsakoff’s Syndrome

    Directory of Open Access Journals (Sweden)

    Yongxing Zhou

    2015-01-01

    Full Text Available The Korsakoff syndrome is defined as “an abnormal mental state in which memory and learning are affected out of all proportion to other cognitive functions in an otherwise alert and responsive patient.” Confabulation refers to false or erroneous memories arising, not deliberately, in the context of a neurological amnesia and is often thought of as pathognomonic of the Korsakoff syndrome. Although the exact pathophysiology is unknown, various studies have identified brain lesions in the thalami, mammillary bodies, and frontal cortex. We report a case of a 68-year-old male presenting with acute altered mental status on July 16, 2015. The neuropsychological dysfunctions included prominent Korsakoff’s syndrome, which became apparent when the altered mental status resolved. Amnesia was accompanied by prominent confabulation, disorientation, and lack of insight into his own disability. Neuroradiological data indicated that the intralaminar and dorsomedial nuclei in bilateral thalami were infarcted by occlusion of the artery of Percheron. We believe that ours is one of few reported cases of Korsakoff syndrome in a patient with infarction involving the territory of the artery of Percheron. We conclude that bilateral thalamic lesions could cause Korsakoff’s syndrome and the intralaminar and dorsomedial nuclei might be important structures in the pathogenesis of confabulation.

  3. Guillain–Barré Syndrome after Coronary Artery Bypass Graft Surgery:a Case Report

    OpenAIRE

    Manouchehr Hekmat; Hamid Ghaderi; Mahnoosh Foroughi; S. Adeleh Mirjafari

    2016-01-01

    Guillain-Barre syndrome is a neurologic disorder that may appear after infection or major surgery.  Guillian-Barre syndrome following cardiac surgery is rare and only based on case reports, and we review all of the published cases. A 52-year-old man after 5 months suffering from chest pain was referred to our hospital and underwent coronary artery bypass graft for 3 vessel disease. The patient was discharged without complication on the 5th postoperative day. He presented Guillain- Barre syndr...

  4. Intermittent hypoglossal nerve palsy caused by a calcified persistent hypoglossal artery: an uncommon neurovascular compression syndrome.

    Science.gov (United States)

    Meila, Dan; Wetter, Axel; Brassel, Friedhelm; Nacimiento, Wilhelm

    2012-12-15

    Neurovascular compression is assumed to cause symptoms like trigeminal neuralgia, hemifacial spasm and vestibular paroxysmia. We present a patient with recurrent episodes of transient dysarthria due to isolated right hypoglossal nerve (HN) palsy. We describe the first case of a calcified persistent hypoglossal artery (PHA) as the putative cause of a hypoglossal neurovascular compression syndrome. Our patient received a daily low-dose medication of carbamazepine resulting in complete relief of symptoms. In conclusion, PHA is not only an anatomic variation but also a possible cause of a neurovascular compression syndrome leading to intermittent HN palsy. PMID:23020989

  5. A patient with WPW syndrome and coronary artery disease

    International Nuclear Information System (INIS)

    A 61-year-old patient with Wolff-Parkinson-White's syndrome, and hypertension was admitted to the CCU, because of the first episode of substernal chest pain. ECG was deformed by Wolff-Parkinson-White's syndrome, type B, with accessory pathway located on the right side, without evolution. Serum enzymes remained low. Echocardiography showed akinesis of the posterior wall and hypokinesis of the lateral wall (the same contraction disorders were described in previous echocardiographical examination 5 years ago), it was observed that the first portion of myocardium to contract was the base of the right ventricle. To elucidate the etiology of the contraction disorders, scintigraphy of the heart, using thallium 201, was performed, showing normal perfusion of the myocardium. To illustrate the dependence of the contraction disorders and abnormal depolarization pattern of the heart, echocardiographical examination was repeated, confirming the previous results, then 100 mg of Ajmaline was given to the patient intravenously, and echocardiographical examination was continued. Administration of the drug caused antidromic atrioventricular re-entrant tachycardia during which the lateral wall of the heart had been contracting properly. This case shows contraction disorders of the heart caused by the abnormal depolarization pattern, resulting from the presence of accessory pathway. It also illustrates the diagnostic difficulties in patients with Wolff-Parkinson-White's syndrome and suspected myocardial infarction, at the same time showing that scintigraphy of the heart might be very helpful in such patients. This case confirms the usefulness of echocardiography for localization of the accessory pathway. (author)

  6. Kounis syndrome.

    Science.gov (United States)

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants. PMID:26636160

  7. MRI of anterior spinal artery syndrome of the cervical spinal cord

    International Nuclear Information System (INIS)

    Cervical spinal cord lesions in the anterior spinal artery syndrome were delineated on magnetic resonance images (MRI) in four patients. The lesion was always seen anteriorly in the cervical cord. On T2-weighted images, the lesions appeared hyperintense relative to the normal spinal cord, while on T1-weighted images, two chronic lesions appeared hypointense, with local atrophy of the cord. In one case, repeated T1-weighted images showed no signal abnormality 4 days after the ictus, but the lesion became hypointense 18 days later, when contrast enhancement was also recognized after injection of Gd-DTPA; this sequence of intensity changes was similar to that of cerebral infarction. The extent of the lesion seen MRI correlated closely with neurological findings in all cases. Although the findings may not be specific, MRI is now the modality of choice for confirming the diagnosis in patients suspected of having an anterior spinal artery syndrome. (orig.)

  8. Rare Syndromes and Common Variants of the Brain-Derived Neurotrophic Factor Gene in Human Obesity.

    Science.gov (United States)

    Han, J C

    2016-01-01

    Rare genetic disorders that cause BDNF haploinsufficiency, such as WAGR syndrome, 11p deletion, and 11p inversion, serve as models for understanding the role of BDNF in human energy balance and neurocognition. Patients with BDNF haploinsufficiency or inactivating mutations of the BDNF receptor exhibit hyperphagia, childhood-onset obesity, intellectual disability, and impaired nociception. Prader-Willi, Smith-Magenis, and ROHHAD syndromes are separate genetic disorders that do not directly affect the BDNF locus but share many similar clinical features with BDNF haploinsufficiency, and BDNF insufficiency is believed to possibly contribute to the pathophysiology of each of these conditions. In the general population, common variants of BDNF that affect BDNF gene expression or BDNF protein processing have also been associated with modest alterations in energy balance and cognitive functioning. Thus, variable degrees of BDNF insufficiency appear to contribute to a spectrum of excess weight gain and cognitive impairment that ranges in phenotypic severity. In this modern era of precision medicine, genotype-specific therapies aimed at increasing BDNF signaling in patients with rare and common disorders associated with BDNF insufficiency could serve as useful approaches for treating obesity and neurodevelopmental disorders. PMID:27288826

  9. Genome-wide assessment for genetic variants associated with ventricular dysfunction after primary coronary artery bypass graft surgery.

    Directory of Open Access Journals (Sweden)

    Amanda A Fox

    Full Text Available BACKGROUND: Postoperative ventricular dysfunction (VnD occurs in 9-20% of coronary artery bypass graft (CABG surgical patients and is associated with increased postoperative morbidity and mortality. Understanding genetic causes of postoperative VnD should enhance patient risk stratification and improve treatment and prevention strategies. We aimed to determine if genetic variants associate with occurrence of in-hospital VnD after CABG surgery. METHODS: A genome-wide association study identified single nucleotide polymorphisms (SNPs associated with postoperative VnD in male subjects of European ancestry undergoing isolated primary CABG surgery with cardiopulmonary bypass. VnD was defined as the need for ≥2 inotropes or mechanical ventricular support after CABG surgery. Validated SNPs were assessed further in two replication CABG cohorts and meta-analysis was performed. RESULTS: Over 100 SNPs were associated with VnD (P2.1 of developing in-hospital VnD after CABG surgery. However, three genetic loci identified by meta-analysis were more modestly associated with development of postoperative VnD. Studies of larger cohorts to assess these loci as well as to define other genetic mechanisms and related biology that link genetic variants to postoperative ventricular dysfunction are warranted.

  10. Anterior ethmoidal artery emerging anterior to bulla ethmoidalis: An abnormal anatomical variation in Waardenburg's syndrome

    OpenAIRE

    Wong, Danny K. C.; Shao, Angus; Campbell, Raewyn; Douglas, Richard

    2014-01-01

    In endoscopic sinus surgery, the anterior ethmoidal artery (AEA) is usually identified as it traverses obliquely across the fovea ethmoidalis, posterior to the bulla ethmoidalis and anterior to or within the ground lamella's attachment to the skull base. Injury to the AEA may result in hemorrhage, retraction of the AEA into the orbit, and a retrobulbar hematoma. The resulting increase in intraorbital pressure may threaten vision. Waardenburg's syndrome (WS) is a rare congenital, autosomal dom...

  11. Popliteal artery thrombosis in a patient with Cogan syndrome: Treatment with thrombolysis and percutaneous transluminal angioplasty

    International Nuclear Information System (INIS)

    A 31-year-old woman with Cogan syndrome (a rare form of systemic vasculitis) was evaluated for a cold, painful left foot with diminished pulses. Arteriography demonstrated thrombosis of the left popliteal artery with evidence of vasculitis. Thrombolytic therapy was begun with initial success but eventual rethrombosis. After reinitiating thrombolytic therapy combined with intraarterial vasodilator therapy, successful angioplasty was performed with sustained results, at 6-month follow-up

  12. Anterior Spinal Artery Syndrome: Reversible Paraplegia after Minimally Invasive Spine Surgery

    OpenAIRE

    Bredow, J.; Oppermann, J.; Keller, K.; F. Beyer; Boese, C. K.; Zarghooni, K.; Sobottke, R.; Eysel, P.; Siewe, J.

    2014-01-01

    Background Context. Percutaneous balloon kyphoplasty is an established minimally invasive technique to treat painful vertebral compression fractures, especially in the context of osteoporosis with a minor complication rate. Purpose. To describe the heparin anticoagulation treatment of paraplegia following balloon kyphoplasty. Study Design. We report the first case of an anterior spinal artery syndrome with a postoperative reversible paraplegia following a minimally invasive spine surgery (bal...

  13. Vasoplegic Syndrome after Off-Pump Coronary Artery Bypass Surgery: An Unusual Complication

    OpenAIRE

    Raja, MRCS, Shahzad G.; Dreyfus, Gilles D.

    2004-01-01

    We report the case of a 65-year-old man who developed norepinephrine-resistant vasoplegic syndrome after elective off-pump coronary artery bypass surgery (OPCAB). The failure of norepinephrine to improve the patient's hemodynamics prompted us to start treatment with vasopressin; within 30 minutes, the hemodynamics began to improve. After 12 hours, the patient was stable enough to be weaned from the vasopressin. He was discharged from the hospital on the 10th postoperative day. To our knowledg...

  14. Pulmonary Arterial Hypertension Associated with Congenital Heart Disease and Eisenmenger Syndrome: Current Practice in Pediatrics

    OpenAIRE

    Frank, David B.; Hanna, Brian D.

    2015-01-01

    Pulmonary arterial hypertension (PAH) is an uncommon but serious disease characterized by severe pulmonary vascular disease and significant morbidity and mortality. PAH associated with congenital heart disease (APAH-CHD) is one etiology of PAH that has innate characteristics delineating it from other forms of PAH. The patient with APAH-CHD presents with unique challenges consisting of not only pulmonary vascular disease but also the complexity of the cardiac lesion. Eisenmenger syndrome (ES) ...

  15. Genetic variants of glutamate receptor gene family in Taiwanese Kawasaki disease children with coronary artery aneurysms

    OpenAIRE

    Lin, Ying-Ju; Chang, Jeng-Sheng; Liu, Xiang(Research Center for Hadron and CSR Physics, Lanzhou University and Institute of Modern Physics of CAS, 730000, Lanzhou , China); Tsang, Hsinyi; Lin, Ting-Hsu; Liao, Chiu-Chu; Huang, Shao-Mei; Chien, Wen-Kuei; Chen, Jin-Hua; Wu, Jer-Yuarn; Chen, Chien-Hsiun; Chang, Li-Ching; Lin, Cheng-Wen; Ho, Tsung-Jung; Tsai, Fuu-Jen

    2014-01-01

    Background Patients with Kawasaki disease (KD), a pediatric systemic vasculitis, may develop coronary artery aneurysm (CAA) as a complication. To investigate the role of glutamate receptors in KD and its CAA development, we performed genetic association studies. Methods and results We examined the whole family of glutamate receptors by genetic association studies in a Taiwanese cohort of 262 KD patients. We identified glutamate receptor ionotropic, kainate 1 (GRIK1) as a novel susceptibility ...

  16. The behavioural variant frontotemporal dementia (bvFTD) syndrome in psychiatry.

    Science.gov (United States)

    Lanata, Serggio C; Miller, Bruce L

    2016-05-01

    The primary goal of this article is to critically discuss the syndromic overlap that exists between early behavioural variant frontotemporal dementia (bvFTD)-the most common clinical syndrome associated with frontotemporal lobar degeneration (FTLD)-and several primary psychiatric disorders. We begin by summarising the current state of knowledge regarding FTLD, including the recent discovery of FTLD-causative genetic mutations. Clinicopathological correlations in FTLD are subsequently discussed, while emphasising that clinical syndromes of FTD are dictated by the distribution of FTLD pathology in the brain. We then review a large number of cases with suspected and confirmed bvFTD that had previously been diagnosed with a primary psychiatric disorder. The clinical and neuroscientific implications of this overlap are discussed, focusing on the importance of early diagnosis for clinical and therapeutic reasons. We propose that largely due to the paucity of biomarkers for primary psychiatric disorders, and the limited use of FTLD-related biomarkers by psychiatrists at present, it is very difficult to separate patients with early bvFTD from those with primary psychiatric disorders based on clinical grounds. Furthermore, specific limitations of the Diagnostic and Statistical Manual of Mental Disorders (DSM) 5 criteria for bvFTD may inadvertently discourage recognition of bvFTD in mental health settings. Clinically, more research is needed to develop tools that allow early differentiation of bvFTD from primary psychiatric disease, as bvFTD therapies will likely be most effective in the earliest stages of disease. From a neuroscience perspective, we argue that bvFTD provides an excellent paradigm for investigating the neural basis of psychiatric disorders. PMID:26216940

  17. Responses to falling lll: defense mechanisms used by women with Turner syndrome and variants

    Directory of Open Access Journals (Sweden)

    Vera Lúcia Soares Chvatal

    2009-01-01

    Full Text Available BACKGROUND: Article extracted from the doctoral research entitled "Experiences of the infertility phenomenon by patients suffering from Turner syndrome and variants: a clinical-qualitative study" approved by the University of Campinas. OBJECTIVES: To understand the defenses employed by women suffering from TS and different ways of dealing with the disease. METHOD: Qualitative research with exploratory design, non-experimental. The instrument consisted of a semidirect psychological interview, involving 13 women, undergoing semestral medical follow-up at the Center for Integral Attention to Women's Health (CAISM, and whose sampling was determined by saturation. Data was interpreted using the psychodynamic approach along with an eclectic framework of theoretical references for discussion in the spirit of interdisciplinary approach. RESULTS:These women displayed psychosocial conflicts such as difficulties in interpersonal relationships; feelings of resignation, anger, impotence, devaluation and depression symptoms. Defenses used were: repression, denial, annulment, fantasizing, adaptation and sublimation. DISCUSSION: Women suffering from TS and variants must deal with the disease's organic and psychic implications that cause great suffering and often hinder a saner social insertion. In this case, the study's findings can guide ambulatory psychological support concomitantly to the routine clinical protocol.OBJETIVO:Conhecer as defesas utilizadas por mulheres com síndrome de Turner (ST ou formas variantes para lidar com a doença. MÉTODO: Pesquisa qualitativa com desenho exploratório, não experimental. O instrumento consistiu em entrevista psicológica semidirigida, aplicada em 13 mulheres, cuja amostragem deu-se por saturação, as quais fazem acompanhamento semestral no Centro de Atendimento Integral à Saúde da Mulher. Os dados foram interpretados utilizando-se da abordagem psicodinâmica, aliada a um quadro eclético de referenciais te

  18. Aneurysm of the Left Coronary Artery in Postoperative Bland-White-Garland Syndrome

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    Nathalie Jeanne Magioli Bravo-Valenzuela

    2015-01-01

    Full Text Available We report a case of anomalous left coronary artery from the pulmonary artery (ALCAPA or Bland-White-Garland syndrome, present the challenges of performing a differential diagnosis, and discuss the treatment of the syndrome. Although ALCAPA is a rare congenital heart disease, it is one of the most common causes of myocardial ischemia in childhood and presents a diagnostic challenge. A four-year-old girl was referred to a pediatric cardiologist for evaluation of mitral valve regurgitation murmur and heart failure. The transthoracic echocardiogram demonstrated the left coronary artery (LCA not arising from the aorta, presence of coronary collateral circulation, and moderate mitral valve regurgitation. ALCAPA was confirmed using angiotomography. The LCA was surgically reimplanted into the aorta. After 3 years of postoperative follow-up, the patient developed an LCA aneurysm. Diagnosis of cardiac ischemia in childhood remains a challenge, and careful evaluation of coronary arteries on the echocardiogram is an important tool. In this report, we present a case of ALCAPA with an uncommon postoperative outcome.

  19. Aneurysm of the Left Coronary Artery in Postoperative Bland-White-Garland Syndrome.

    Science.gov (United States)

    Bravo-Valenzuela, Nathalie Jeanne Magioli; Silva, Guilherme Ricardo Nunes

    2015-01-01

    We report a case of anomalous left coronary artery from the pulmonary artery (ALCAPA) or Bland-White-Garland syndrome, present the challenges of performing a differential diagnosis, and discuss the treatment of the syndrome. Although ALCAPA is a rare congenital heart disease, it is one of the most common causes of myocardial ischemia in childhood and presents a diagnostic challenge. A four-year-old girl was referred to a pediatric cardiologist for evaluation of mitral valve regurgitation murmur and heart failure. The transthoracic echocardiogram demonstrated the left coronary artery (LCA) not arising from the aorta, presence of coronary collateral circulation, and moderate mitral valve regurgitation. ALCAPA was confirmed using angiotomography. The LCA was surgically reimplanted into the aorta. After 3 years of postoperative follow-up, the patient developed an LCA aneurysm. Diagnosis of cardiac ischemia in childhood remains a challenge, and careful evaluation of coronary arteries on the echocardiogram is an important tool. In this report, we present a case of ALCAPA with an uncommon postoperative outcome. PMID:26770839

  20. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report

    OpenAIRE

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-01-01

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous in...

  1. Circulating oxidized low-density lipoproteins and arterial elasticity: comparison between men with metabolic syndrome and physically active counterparts

    Directory of Open Access Journals (Sweden)

    Pohjantähti-Maaroos Hanna

    2010-08-01

    Full Text Available Abstract Background Accumulation of oxidized low-density lipoproteins in the intimae of arteries and endothelial dysfunction are key events in the development of atherosclerosis. Patients with metabolic syndrome are at high risk for cardiovascular diseases but the linkage between metabolic syndrome and atherosclerosis is incompletely understood. We studied whether the levels of oxidized LDL and arterial elasticity differ between metabolic syndrome patients and physically active controls. Methods 40 men with metabolic syndrome and 40 physically active controls participated in this cross-sectional study. None of the study subjects had been diagnosed with cardiovascular disease. Levels of oxidized LDL were assessed by a two-site ELISA immunoassay. Arterial elasticity was assessed non-invasively by the HDI/PulseWave™ CR-2000 arterial tonometer. Results Levels of oxidized LDL were 89.6 ± 33.1 U/L for metabolic syndrome subjects and 68.5 ± 23.6 U/L for controls (p = 0.007. The difference remained significant after adjustment for LDL cholesterol. Large artery elasticity index (C1 was 16.2 ± 4.1 mL/mmHgx10 for metabolic syndrome subjects and 19.4 ± 3.7 mL/mmHgx10 for controls (p = 0.001, small artery indices (C2 were 7.0 ± 3.2 mL/mmHgx100 and 6.5 ± 2.9 mL/mmHgx100 (NS, respectively. Conclusions Subjects with metabolic syndrome had elevated levels of oxidized LDL and reduced large arterial elasticity compared to controls. This finding may partly explain the increased risk for cardiovascular diseases among metabolic syndrome patients. Trial registration ClinicalTrials.gov NCT01114763

  2. A Rare Form of Guillan Barre Syndrome: A Child Diagnosed with Anti-GD1a and Anti-GD1b Positive Pharyngeal-Cervical-Brachial Variant

    OpenAIRE

    Uysalol, Metin; Tatlı, Burak; Uzel, Nedret; Çıtak, Agop; Aygün, Erhan; Kayaoğlu, Semra

    2013-01-01

    Background: Pharyngeal-cervical-brachial (PCB) variant is a rare form of Guillan-Barre Syndrome (GBS). Antibodies against other membrane proteins like GM1b and GD1a have been found only in a small number of patients with Guillan Barre syndrome variant. Case Report: Here, we report a 5.5 year-old boy diagnosed early with positive GD1a and GD1b gangliosides of Guillan-Barre syndrome pharyngeal cervical-Brachial variant, who improved and recovered fully in a short period. This is in co...

  3. Guillain–Barré Syndrome after Coronary Artery Bypass Graft Surgery:a Case Report

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    Manouchehr Hekmat

    2016-01-01

    Full Text Available Guillain-Barre syndrome is a neurologic disorder that may appear after infection or major surgery.  Guillian-Barre syndrome following cardiac surgery is rare and only based on case reports, and we review all of the published cases. A 52-year-old man after 5 months suffering from chest pain was referred to our hospital and underwent coronary artery bypass graft for 3 vessel disease. The patient was discharged without complication on the 5th postoperative day. He presented Guillain- Barre syndrome after 12 months. He has not completely recovered weakness of upper extremities grade 4/5 with atrophy of both upper extremities remains after 18 months. This disorder is similar to classic GBS. It is important to be alert to de novo autoimmune neurological disorders after cardiac surgery. These disorders are similar to classic autoimmune disease and treated with standard therapies.

  4. Embolization of Life-Threatening Arterial Rupture in Patients with Vascular Ehlers–Danlos Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Okada, Takuya, E-mail: okabone@gmail.com [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Interventional Radiology Department (France); Frank, Michael, E-mail: michael.frank@egp.aphp.fr [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Rare Vascular Diseases Reference Center (France); Pellerin, Olivier, E-mail: olivier@pellerin.as; Primio, Massimiliano Di, E-mail: massimiliano.di.primio@gmail.com; Angelopoulos, Georgios, E-mail: giorginos78@msn.com [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Interventional Radiology Department (France); Boughenou, Marie-Fazia, E-mail: marie-fazia.boughenou@egp.aphp.fr [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Anesthesia and Surgical Intensive Care Unit (France); Pagny, Jean-Yves, E-mail: jean-yves.pagny@egp.aphp.fr [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Interventional Radiology Department (France); Messas, Emmanuel, E-mail: emmanuel.messas@egp.aphp.fr [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Rare Vascular Diseases Reference Center (France); Sapoval, Marc, E-mail: marc.sapoval2@egp.aphp.fr [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Interventional Radiology Department (France)

    2013-05-09

    PurposeTo evaluate the safety and efficacy of transarterial embolization of life-threatening arterial rupture in patients with vascular Ehlers–Danlos syndrome (vEDS) in a single tertiary referral center.MethodsWe retrospectively analyzed transarterial embolization for vEDS performed at our institution from 2000 to 2012. The indication of embolization was spontaneous arterial rupture or pseudoaneurysm with acute bleeding. All interventions used a percutaneous approach through a 5F or less introducer sheath. Embolic agents were microcoils and glue in 3 procedures, glue alone in 2, and microcoils alone in 2.ResultsFive consecutive vEDS patients were treated by 7 embolization procedures (4 women, mean age 29.8 years). All procedures were successfully performed. Two patients required a second procedure for newly arterial lesions at a different site from the first procedure. Four of the five patients were still alive after a mean follow-up of 19.4 (range 1–74.7) months. One patient died of multiple organ failure 2 days after procedure. Minor procedural complications were observed in 3 procedures (43 %), all directly managed during the same session. Remote arterial lesions occurred after 3 procedures (43 %); one underwent a second embolization, and the other 2 were observed conservatively. Puncture site complication was observed in only one procedure (14 %).ConclusionEmbolization for vEDS is a safe and effective method to manage life-threatening arterial rupture.

  5. Central retinal artery occlusion in a patient with ANCA-negative Churg-Strauss syndrome

    Directory of Open Access Journals (Sweden)

    Miyazaki M

    2012-07-01

    Full Text Available Yuji Kumano,1 Noriko Yoshida,2 Satoru Fukuyama,3 Masanori Miyazaki,2 Hiroshi Enaida,2 Takaaki Matsui11Ohshima Hospital of Ophthalmology, Fukuoka, 2Department of Ophthalmology, 3Research Institute for Diseases of the Chest, Graduate School of Medical Sciences, Kyushu University, Fukuoka, JapanAbstract: Ocular involvement in Churg-Strauss syndrome is infrequent. We describe the case of a 54-year-old woman with eosinophilia and involvement of the respiratory tract, skin, and peripheral nervous system, fulfilling the American College of Rheumatology criteria for Churg-Strauss syndrome. The patient presented with acute, painless vision loss in her right eye. Central retinal artery occlusion (CRAO without accompanying retinal vasculitis was diagnosed by angiographic findings and funduscopic findings of retinal whitening with a cherry-red spot. Although her antineutrophil cytoplasmic antibody (ANCA status was negative, CRAO was thought to be an ocular manifestation of Churg-Strauss syndrome, and appropriate treatment was planned. She was treated with high-dose corticosteroids and anticoagulant therapy. Her macular edema improved, but visual recovery was poor. Specific therapy to alter inflammation, blood coagulation, and rheology reportedly plays an important role in ANCA-positive patients with Churg-Strauss syndrome who develop CRAO. Regardless of ANCA status, high-dose corticosteroids should be considered for CRAO in patients with Churg-Strauss syndrome, as discussed in this case.Keywords: CRAO, ANCA, Churg-Strauss syndrome

  6. Splenic Artery Syndrome After Orthotopic Liver Transplantation: Treatment With the Amplatzer Vascular Plug

    International Nuclear Information System (INIS)

    Purpose: To evaluate the safety and efficacy of the Amplatzer vascular plug (AVP) for embolization of the splenic artery in patients with hepatic hypoperfusion after orthotopic liver transplantation (OLT). Materials and Methods: Thirteen patients (9 men and 4 women) with a mean age of 56 years (range 22–70) who developed splenic artery syndrome after OLT with decreased liver perfusion and clinically relevant impairment of liver function (increased transaminase or serum bilirubin levels, thrombocytopenia, and/or therapy-refractory ascites) were treated by embolization of the proximal third of the splenic artery using the AVP. The plugs ranged in diameter from 6 to 16 mm, and they were introduced through femoral (n = 9), axillary (n = 3), or brachial (n = 1) access using a 5F or 8F guiding catheter. Results: The plugs were successfully placed, and complete occlusion of the splenic artery was achieved in all patients. Placement of two plugs was necessary for complete occlusion in 3 of the 13 patients. Occlusion took on average 10 min (range 4–35). There was no nontarget embolization or plug migration into more distal segments of the splenic artery. All patients showed improved arterial perfusion, including the liver periphery, on postinterventional angiogram. After embolization, liver function parameters (transaminase and bilirubin levels) improved with normalization of concomitant thrombocytopenia and a decrease in ascites volume. Conclusion: Our initial experience in a small patient population with SAS suggests that the AVP enables precise embolization of the proximal splenic artery, thus providing safe and effective treatment for poor liver perfusion after OLT due to SAS.

  7. Acquired infantile Horner syndrome and spontaneous internal carotid artery dissection: a case report and review of literature.

    Science.gov (United States)

    Pirouzian, Amir; Holz, Huck A; Ip, Kenneth C; Sudesh, Rattehalli

    2010-04-01

    Horner syndrome, a triad of ptosis, anisocoria, and anhidrosis, results from interruption in the oculosympathetic pathway. It is classically described as either congenital or acquired to depict its underlying pathophysiology and requisite work-up. We report a case of a 10-month-old infant presenting with an acute onset of left Horner syndrome secondary to a spontaneous extracranial internal carotid artery dissection. To the best of our knowledge, this is the first case report in the literature of acute onset of acquired infantile Horner syndrome in association with spontaneous carotid artery dissection confirmed with magnetic resonance angiogram. PMID:20451860

  8. A rare cause of Ortner’s syndrome: giant pulmonary artery aneurysm secondary to Behçet’s disease

    Directory of Open Access Journals (Sweden)

    Abdullah Çelik

    2015-03-01

    Full Text Available Behçet’ s disease is a systemic autoimmune vasculitis of unknown etiology. It causes serious disability by affecting both arteries and veins. Hoarseness due to compression of the left recurrent laringeus nerve resulting from pathologies of the heart and intrathoracic great vessels is defined as Ortner’s syndrome. The most common cause of Ortner’s syndrome is left atrial enlargement due to mitral stenosis. Various intrathoracic pathologies may also be the reason. Beside, Ortner’s syndrome due to primary pulmonary artery aneurysm as a feature of Behçet’s disease is relatively rare. Herein, we report a case of a 78 year old female patient presenting with hoarseness and diagnosed as Ortner’s syndrome resulting from a giant pulmonary artery aneurysm secondary to Behçet’ s disease. J Clin Exp Invest 2015; 6 (1: 69-71

  9. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?

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    Marjan SHAKIBA

    2012-10-01

    Full Text Available Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD, Mohr syndrome and Joubert syndrome. We report a patient who was referred to us because of the neurological signs suspicious of metabolic disorders. This case was a 22-year-old woman whose problems began 4 years ago with shortening of memory, ataxia, abnormal gait and diplopia which progressed slowly. She consulted many neurologists and was on treatment with the suspicion of vasculitis, but no response was detected. She had severe short stature, hypoplasia of the middle and distal phalanges of the first, second and third fingers, clinodactyly, abnormal toes, abnormal enamel and missing teeth. She had no characteristic faces of ODDD and ophthalmological abnormality. Our patient might be a variant of ODDD or a new syndrome with somatic and neurologic signs.

  10. Association of metabolic syndrome with arterial compliance in children and adolescents

    Institute of Scientific and Technical Information of China (English)

    ZHANG Li; MI Jie; LI Ming; JIANG Benyu

    2007-01-01

    The association of metabolic syndrome (MS)with arterial compliance in children and adolescents was explored.337 subjects (188 men and 149 women) aged 6-18 (10.95±3.01) years,out of "Beijing Child Metabolic Syndrome Study",were divided into three ease groups (one component,two components,three & more components of MS) and one control group based on the Cook's MS definition in children and adolescents.Measurements including anthropometry,blood pressure,fasting plasma glucose and insulin,serum lipid profile were done.Homeostasis model assessment for insulin resistance (HOMA-IR) index was calculated for estimating individual insulin resistance.Arterial compliance was measured using digital pulse wave analyzing method from the pulse trace machine (Micro medical,London),and then the stiffness index (SI) was determined.The mean value of SI in MS group was significant higher than that in control group [(7.69±1.63) vs (6.25 + 0.86) m/s,P < 0.01 ].With the increase of the clustering of MS components,SI and HOMA-IR were gradually increased.After taking account of gender,age and pubertal development,the partial correlation analysis showed that the amount of components of MS and HOMA-IR were positively correlated with SI (both P values were less than 0.05).The arterial compliance of MS group was significantly lowered in children and adolescents,and with the increase of the clustering of MS components,arterial compliance was gradually decreased.It was suggested that arterial compliance assessment in children and adolescents was important for early prevention of cardiovascular diseases.

  11. Common variants associated with plasma triglycerides and risk for coronary artery disease

    DEFF Research Database (Denmark)

    Do, R.; Willer, C. J.; Schmidt, E. M.;

    2013-01-01

    Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common...... both traits are factors in determining CAD risk. Second, we consider loci with only a strong association with triglycerides and show that these loci are also associated with CAD. Finally, in a model accounting for effects on LDL-C and/or high-density lipoprotein cholesterol (HDL-C) levels, the strength...... of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk. These results suggest that triglyceride-rich lipoproteins causally influence risk for CAD....

  12. Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Brusgaard, Klaus; Hansen, Tine Plato;

    2016-01-01

    OBJECTIVE: A subgroup of patients with hamartomatous polyps in the GI tract has a hereditary Hamartomatous Polyposis Syndrome with an increased risk of cancer. The distinction between patients with one or few polyps and patients with a syndrome can be difficult. A pathogenic germline mutation can...... the clinical significance of genetic variants can be difficult to interpret. A family history of polyps, cancer, or extraintestinal findings or a minimum of 3-5 polyps seems to be relevant information to include before genetic testing....

  13. Renal Artery Embolization of Perirenal Hematoma in Hemorrhagic Fever with Renal Syndrome: A Case Report

    International Nuclear Information System (INIS)

    Hemorrhagic fever with renal syndrome (HFRS) is an acute viral disease characterized by fever, hemorrhage and renal failure. Among the various hemorrhagic complications of HFRS, spontaneous rupture of the kidney and perirenal hematoma are very rare findings. We report here on a case of HFRS complicated by massive perirenal hematoma, and this was treated with transcatheter arterial embolization. Hemorrhagic fever with renal syndrome (HFRS) is an acute infectious disease caused by hantavirus. HFRS is clinically characterized by fever, renal failure and hemorrhage in organs such as lung, kidney, spleen and the pituitary gland. Renal medullary hemorrhage is a well-known complication in the kidney, but spontaneous rupture of the kidney and perirenal hematoma in HFRS is rare, and patients showing continuous bleeding and massive perirenal hematoma have often been surgically treated. We report here on a case of HFRS complicated by massive perirenal hematoma, and the patient was treated with transcatheter arterial embolization. In summary, spontaneous rupture of the kidney and perirenal hematoma is a rare complication of HFRS. We report here on a case of HFRS that caused massive perirenal hematoma, and this was treated with superselective renal artery embolization

  14. Renal Artery Embolization of Perirenal Hematoma in Hemorrhagic Fever with Renal Syndrome: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Hee Seok; Lee, Yong Seok; Lim, Ji Hyon; Kim, Kyung Soo; Yoon, Yup [Dongguk University College of Medicine, Goyang (Korea, Republic of); Hwang, Jae Cheol [Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan (Korea, Republic of)

    2007-08-15

    Hemorrhagic fever with renal syndrome (HFRS) is an acute viral disease characterized by fever, hemorrhage and renal failure. Among the various hemorrhagic complications of HFRS, spontaneous rupture of the kidney and perirenal hematoma are very rare findings. We report here on a case of HFRS complicated by massive perirenal hematoma, and this was treated with transcatheter arterial embolization. Hemorrhagic fever with renal syndrome (HFRS) is an acute infectious disease caused by hantavirus. HFRS is clinically characterized by fever, renal failure and hemorrhage in organs such as lung, kidney, spleen and the pituitary gland. Renal medullary hemorrhage is a well-known complication in the kidney, but spontaneous rupture of the kidney and perirenal hematoma in HFRS is rare, and patients showing continuous bleeding and massive perirenal hematoma have often been surgically treated. We report here on a case of HFRS complicated by massive perirenal hematoma, and the patient was treated with transcatheter arterial embolization. In summary, spontaneous rupture of the kidney and perirenal hematoma is a rare complication of HFRS. We report here on a case of HFRS that caused massive perirenal hematoma, and this was treated with superselective renal artery embolization.

  15. Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.

    Directory of Open Access Journals (Sweden)

    Frank Tüttelmann

    Full Text Available A genetic origin is estimated in 30% of infertile men with the common phenotypes of oligo- or azoospermia, but the pathogenesis of spermatogenic failure remains frequently obscure. To determine the involvement of Copy Number Variants (CNVs in the origin of male infertility, patients with idiopathic severe oligozoospermia (N = 89, Sertoli-cell-only syndrome (SCOS, N = 37 and controls with normozoospermia (N = 100 were analysed by array-CGH using the 244A/400K array sets (Agilent Technologies. The mean number of CNVs and the amount of DNA gain/loss were comparable between all groups. Ten recurring CNVs were only found in patients with severe oligozoospermia, three only in SCOS and one CNV in both groups with spermatogenic failure but not in normozoospermic men. Sex-chromosomal, mostly private CNVs were significantly overrepresented in patients with SCOS. CNVs found several times in all groups were analysed in a case-control design and four additional candidate genes and two regions without known genes were associated with SCOS (P<1×10(-3. In conclusion, by applying array-CGH to study male infertility for the first time, we provide a number of candidate genes possibly causing or being risk factors for the men's spermatogenic failure. The recurring, patient-specific and private, sex-chromosomal CNVs as well as those associated with SCOS are candidates for further, larger case-control and re-sequencing studies.

  16. Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome.

    Science.gov (United States)

    García-Martín, Elena; Jiménez-Jiménez, Félix Javier; Alonso-Navarro, Hortensia; Martínez, Carmen; Zurdo, Martín; Turpín-Fenoll, Laura; Millán-Pascual, Jorge; Adeva-Bartolomé, Teresa; Cubo, Esther; Navacerrada, Francisco; Rojo-Sebastián, Ana; Rubio, Lluisa; Ortega-Cubero, Sara; Pastor, Pau; Calleja, Marisol; Plaza-Nieto, José Francisco; Pilo-de-la-Fuente, Belén; Arroyo-Solera, Margarita; García-Albea, Esteban; Agúndez, José A G

    2015-08-01

    Several neurochemical, neuropathological, neuroimaging, and experimental data, suggest that iron deficiency plays an important role in the pathophysiology of restless legs syndrome (RLS). Heme-oxygenases (HMOX) are an important defensive mechanism against oxidative stress, mainly through the degradation of heme to biliverdin, free iron, and carbon monoxide. We analyzed whether HMOX1 and HMOX2 genes are related with the risk to develop RLS.We analyzed the distribution of genotypes and allelic frequencies of the HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363, and HMOX2 rs1051308 SNPs, as well as the presence of Copy number variations (CNVs) of these genes in 205 subjects RLS and 445 healthy controls.The frequencies of rs2071746TT genotype and rs2071746T allelic variant were significantly lower in RLS patients than that in controls, although the other 3 studied SNPs did not differ between RLS patients and controls. None of the studied polymorphisms influenced the disease onset, severity of RLS, family history of RLS, serum ferritin levels, or response to dopaminergic agonist, clonazepam or GABAergic drugs.The present study suggests a weak association between HMOX1 rs2071746 polymorphism and the risk to develop RLS in the Spanish population. PMID:26313808

  17. Impact of TP53 mutation variant allele frequency on phenotype and outcomes in myelodysplastic syndromes.

    Science.gov (United States)

    Sallman, D A; Komrokji, R; Vaupel, C; Cluzeau, T; Geyer, S M; McGraw, K L; Al Ali, N H; Lancet, J; McGinniss, M J; Nahas, S; Smith, A E; Kulasekararaj, A; Mufti, G; List, A; Hall, J; Padron, E

    2016-03-01

    Although next-generation sequencing has allowed for the detection of somatic mutations in myelodysplastic syndromes (MDS), the clinical relevance of variant allele frequency (VAF) for the majority of mutations is unknown. We profiled TP53 and 20 additional genes in our training set of 219 patients with MDS or secondary acute myeloid leukemia with findings confirmed in a validation cohort. When parsed by VAF, TP53 VAF predicted for complex cytogenetics in both the training (P=0.001) and validation set (P 40% had a median overall survival (OS) of 124 days versus an OS that was not reached in patients with VAF 40% was an independent covariate (HR, 1.61; P<0.0001). In addition, SRSF2 VAF predicted for monocytosis (P=0.003), RUNX1 VAF with thrombocytopenia (P=0.01) and SF3B1 with ringed sideroblasts (P=0.001). Together, our study indicates that VAF should be incorporated in patient management and risk stratification in MDS. PMID:26514544

  18. A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome.

    Science.gov (United States)

    Hamatani, Mio; Jingami, Naoto; Uemura, Kengo; Nakasone, Naoe; Kinoshita, Hisanori; Yamakado, Hodaka; Ninomiya, Haruaki; Takahashi, Ryosuke

    2016-06-22

    A 40-year-old man was referred to our hospital because of vertical supranuclear gaze palsy, frequent sudden loss of muscle tonus and ataxia for several years. He had a history of prolonged neonatal jaundice. He was given a diagnosis of autism in his childhood, followed by a diagnosis of schizophrenia in his teenage. He also developed a savant skill of calendar calculating. (123)I-IMP-SPECT showed decreased cerebral blood flow in the left frontotemporal lobe as often seen in savant syndrome. Although genetic analysis of NPC1 and NPC2 revealed no pathogenic mutation, filipin staining of cultured fibroblasts from his biopsied skin revealed a certain amount of intracellular cholesterol storage pattern, indicating a variant biochemical phenotype of Niemann-Pick disease type C (NPC). The diagnosis of adulthood onset NPC is difficult and challenging, especially for neurologists, because the symptoms and signs are not as clear as those in the classical childhood onset NPC and this subtype is not yet widely known. However, the diagnosis can be made by a combination of filipin staining of fibroblast and/or gene analysis. As a disease-specific therapy for NPC has been approved in Japan, the diagnosis of NPC is of significance. PMID:27181747

  19. Minimally invasive surgery for superior mesenteric artery syndrome: A case report.

    Science.gov (United States)

    Yao, Si-Yuan; Mikami, Ryuichi; Mikami, Sakae

    2015-12-01

    Superior mesenteric artery (SMA) syndrome is defined as a compression of the third portion of the duodenum by the abdominal aorta and the overlying SMA. SMA syndrome associated with anorexia nervosa has been recognized, mainly among young female patients. The excessive weight loss owing to the eating disorder sometimes results in a reduced aorto-mesenteric angle and causes duodenal obstruction. Conservative treatment, including psychiatric and nutritional management, is recommended as initial therapy. If conservative treatment fails, surgery is often required. Currently, traditional open bypass surgery has been replaced by laparoscopic duodenojejunostomy as a curative surgical approach. However, single incision laparoscopic approach is rarely performed. A 20-year-old female patient with a diagnosis of anorexia nervosa and SMA syndrome was prepared for surgery after failed conservative management. As the patient had body image concerns, a single incision laparoscopic duodenojejunostomy was performed to achieve minimal scarring. As a result, good perioperative outcomes and cosmetic results were achieved. We show the first case of a young patient with SMA syndrome who was successfully treated by single incision laparoscopic duodenojejunostomy. This minimal invasive surgery would be beneficial for other patients with SMA syndrome associated with anorexia nervosa, in terms of both surgical and cosmetic outcomes. PMID:26668518

  20. Microalbuminuria associated with systolic blood pressure and arterial compliance in Chinese metabolic syndrome patients

    Institute of Scientific and Technical Information of China (English)

    LI Xin-li; XU Qiong; TONG Min; LU Xin-zheng; ZHANG Hai-feng; ZHOU Yan-li; CAO Ke-jiang; HUANG Jun

    2007-01-01

    Background There is significant evidence showing that microalbuminuria and arterial compliance are sensitive markers for early cardiovascular diseases. However, whether microalbuminuria is associated with reduced arterial compliance in Chinese metabolic syndrome (MS) patients remains unknown.Methods According to the definition of MS proposed by ATPⅢ in 2001, USA, subjects (n=362) were divided into three groups according to the number of risk factors: group 1 (control), group 2 (medium, < 3 risk factors) and group 3 (MS, ≥ 3 risk factors). Both large artery compliance (C1) and small artery compliance (C2) were measured with the CVProfilor DO-2020 Cardiovascular Profiling System, and microalbuminuria was evaluated with the ratio of albumin to urine creatinine.Results (1) As C1 and C2 levels elasticity decreased, albumin creatinine ratio (ACR) and the prevalence of microalbuminuria increased within those groups with MS risk factors. C1 and C2 were negatively correlated with the ranking of MS risk factors, ACR was positively correlated with the ranking of MS risk factors (all P<0.05). (2) Subjects were also categorized into a microalbuminuria group and a normal group, C1 and C2 in the microalbuminuria group were lower than in the normal group. (3) Multivariate regression analysis showed that increased systolic blood pressure (SBP) and reduced arterial compliance were the main risk factors for microalbuminuria in the MS group.Conclusions The risk of developing microalbuminuria was higher in the subjects with multiple metabolic abnormalities.Increased systolic blood pressure and reduced arterial compliance may be the main predictors for microalbuminuria in MS.

  1. Identification of susceptibility variants in ADIPOR1 gene associated with type 2 diabetes, coronary artery disease and the comorbidity of type 2 diabetes and coronary artery disease.

    Directory of Open Access Journals (Sweden)

    Zening Jin

    Full Text Available OBJECTIVE: Adiponectin receptor 1 (encoded by ADIPOR1 is one of the major adiponectin receptors, and plays an important role in glucose and lipid metabolism. However, few studies have reported simultaneous associations between ADIPOR1 variants and type 2 diabetes (T2D, coronary artery disease (CAD and T2D with CAD. Based on the "common soil" hypothesis, we investigated whether ADIPOR1 polymorphisms contributed to the etiology of T2D, CAD, or T2D with CAD in a Northern Han Chinese population. METHODS: Our multi-disease comparison study enrolled 657 subjects, including 165 with T2D, 173 with CAD, 174 with both T2D and CAD (T2D+CAD, and 145 local healthy controls. Six ADIPOR1 single nucleotide polymorphisms (SNPs were genotyped and their association with disease risk was analyzed. RESULTS: Multi-case-control comparison identified two ADIPOR1 variants: rs3737884-G, which was simultaneously associated with an increased risk of T2D, CAD, and T2D+CAD (P-value range, 9.80×10(-5-6.30×10(-4; odds ratio (OR range: 1.96-2.42 and 16850797-C, which was separately associated with T2D and T2D+CAD (P-value range: 0.007-0.014; OR range: 1.71-1.77. The risk genotypes of both rs3737884 and 16850797 were consistently associated with common metabolic phenotypes in all three diseases (P-value range: 4.81×10(-42-0.001. We observed an increase in the genetic dose-dependent cumulative risk with increasing risk allele numbers in T2D, CAD and T2D+CAD (P trend from 1.35×10(-5-0.002. CONCLUSIONS: Our results suggest that ADIPOR1 risk polymorphisms are a strong candidate for the "common soil" hypothesis and could partially contribute to disease susceptibility to T2D, CAD, and T2D with CAD in the Northern Han Chinese population.

  2. Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval

    DEFF Research Database (Denmark)

    Ghouse, Jonas; Have, Christian Theil; Weeke, Peter;

    2015-01-01

    AIMS: We studied whether variants previously associated with congenital long QT syndrome (cLQTS) have an effect on the QTc interval in a Danish population sample. Furthermore, we assessed whether carriers of variants in cLQTS-associated genes are more prone to experience syncope compared with non...

  3. MRI and MR-angiography of persistent trigeminal artery and its variant; La persistance de l`artere trigeminee et savariante. Apport de l`IRM et de l`angio-RM

    Energy Technology Data Exchange (ETDEWEB)

    Boukobza, M.; Houdart, E.; Chapot, R.; Guichard, J.P.; Merland, J.J. [Hopital Lariboisiere, 75 - Paris (France)

    1997-11-01

    We describe the magnetic resonance imaging and magnetic resonance angiography findings in 5 cases of persistent trigeminal artery, and in two cases of variant trigeminal artery. Six patients underwent complete four-vessel angiography, performed to depict other pathology. Magnetic resonance imaging and magnetic resonance angiography allowed in each case to visualize this artery and to precise its latero- or intra-sellar situation. The variant is not defined on conventional magnetic resonance imaging, but may be individualized on magnetic resonance angiography. In each case, identification of these persistent artery is crucial if surgery of sellar or gasserian region is planned. (authors)

  4. A reversible bilateral renal artery stenosis in association with antiphospholipid syndrome.

    Science.gov (United States)

    Remondino, G I; Mysler, E; Pissano, M N; Furattini, M C; Basta, M C; Presas, J L; Allievi, A

    2000-01-01

    We describe a 26-year-old white female with a history of Raynaud phenomenon, erythema nodosum, polyarthralgias, migraine, vertigo, seizures, transient ischemic attacks, one fetal loss, and false positive VDRL, who developed milk hypertension without overt lupus nephritis. She had positive antinuclear antibodies (ANA) and double-stranded deoxyribonucleic acid (dsDNA) antibodies. The lupus anticoagulant test (LAC) and cardiolipins antibodies (aCL) were positive. She was diagnosed as having a Systemic Lupus Erythematosus-like illness (SLE-like) with 'secondary' antiphospholipid syndrome (APS). Renal spiral computed tomography (CT) with intravenous (IV) contrast showed bilateral renal artery stenosis. Anticoagulation with acenocumarol was started. She became normotensive without antihypertensive drugs five months later. A follow-up renal spiral CT showed complete recanalization of both renal arteries, making thrombosis the more likely culprit pathology in the stenosis. After two years follow up the patient is normotensive. She remains on acenocumarol. PMID:10713649

  5. Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Filipa Pereira

    2015-01-01

    Full Text Available Ehlers-Danlos syndrome (EDS is a rare heterogeneous group of connective tissue disorders. The vascular type (vEDS is an autosomal dominant disorder caused by heterozygous mutations in the COL3A1 gene predisposing to premature arterial, intestinal, or uterine rupture. We report a case of a 38-year-old woman with a recent diagnosis of vEDS admitted in the Emergency Department with a suspicion of a pyelonephritis that evolved to a cardiopulmonary arrest. A fatal retroperitoneal hematoma related with a haemorrhagic dissection of the right renal artery was found after emergency surgery. This case highlights the need to be aware of the particular characteristics of vEDS, such as a severe vascular complication that can lead to a fatal outcome.

  6. Coronary angiographies of patients with recurrent acute coronary syndrome following coronary artery bypass grafting

    Institute of Scientific and Technical Information of China (English)

    JIA Yu-he; YANG Yue-jin; WEI Yi-zhen; YAO Min; HU Sheng-shou

    2005-01-01

    @@ Coronary artery bypass grafting (CABG) is considered as a more complete means of revascularization than percutaneous coronary intervention (PCI). However, acute coronary syndrome (ACS) can still occur after CABG. The culprit vessel can be the graft vessel or the native vessel. Many questions remain unanswered in the Chinese literature regarding this topic: what are the short- and long-term pathological changes that induce ACS? Is there any difference between arterial and venous grafts with respect to the frequency of restenosis? Are there any patterns of ACS-related vessels in different periods after CABG? We aim to answer these fundamental questions by analyzing coronary angiographies of patients with recurrent ACS following CABG and provide evidence for reducing post-CABG restenosis.

  7. Brachiomedian artery (arteria brachiomediana) revisited: a comprehensive review

    Science.gov (United States)

    Kachlik, David; Konarik, Marek; Riedlova, Jitka; Baca, Vaclav

    2016-01-01

    This article reviews in detail the superficial brachiomedian artery (arteria brachiomediana superficialis), a very rare variant of the main arterial trunks of the upper limb. It branches either from the axillary artery or the brachial artery, descends superficially in the arm (similar to the course of the superficial brachial artery) and continues across the cubital fossa, runs superficially in the forearm, approaches the median nerve and enters the carpal canal to reach the hand. It usually terminates in the superficial palmar arch. The first drawing was published, in 1830, and the first description was published, in 1844. Altogether, to our knowledge, only 31 cases of a true, superficial brachiomedian artery have been reported (Some cases are incorrectly reported as superficial brachioradiomedian artery or superficial brachioulnomedian artery). Based on a meta-analysis of known, available studies, the incidence is 0.23% in Caucasians and 1.48% in Mongolians. Knowing whether or not this arterial variant is present is important in clinical medicine and relevant for: The catheterization via the radial or ulnar artery; harvesting the vascular pedicle for a forearm flap based on the radial, ulnar or superficial brachiomedian arteries; the possible collateral circulation in cases of the arterial closure; and the surgical management of carpal tunnel syndrome. Its presence can elevate the danger of an injury to the superficially located variant artery or of an accidental injection. PMID:27131025

  8. Brachiomedian artery (arteria brachiomediana) revisited: a comprehensive review.

    Science.gov (United States)

    Kachlik, David; Konarik, Marek; Riedlova, Jitka; Baca, Vaclav

    2016-01-01

    This article reviews in detail the superficial brachiomedian artery (arteria brachiomediana superficialis), a very rare variant of the main arterial trunks of the upper limb. It branches either from the axillary artery or the brachial artery, descends superficially in the arm (similar to the course of the superficial brachial artery) and continues across the cubital fossa, runs superficially in the forearm, approaches the median nerve and enters the carpal canal to reach the hand. It usually terminates in the superficial palmar arch. The first drawing was published, in 1830, and the first description was published, in 1844. Altogether, to our knowledge, only 31 cases of a true, superficial brachiomedian artery have been reported (Some cases are incorrectly reported as superficial brachioradiomedian artery or superficial brachioulnomedian artery). Based on a meta-analysis of known, available studies, the incidence is 0.23% in Caucasians and 1.48% in Mongolians. Knowing whether or not this arterial variant is present is important in clinical medicine and relevant for: The catheterization via the radial or ulnar artery; harvesting the vascular pedicle for a forearm flap based on the radial, ulnar or superficial brachiomedian arteries; the possible collateral circulation in cases of the arterial closure; and the surgical management of carpal tunnel syndrome. Its presence can elevate the danger of an injury to the superficially located variant artery or of an accidental injection. PMID:27131025

  9. Horner-s Syndrome following common carotid artery translocation in a horse: case report

    Directory of Open Access Journals (Sweden)

    C.M.M. Coelho

    2014-10-01

    Full Text Available Horner's syndrome (HS is a sympathetic dysfunction caused by injuries to the sympathetic pathway. A clinical case of HS following common carotid artery transposition and catheterization in a horse is described. The animal presented head and neck sweating with focal skin temperature elevation, facial paralysis and ptosis. Most clinical signs were transient and persisted for two hours following percutaneous catheter removal. Recurrence of clinical signs was observed at subsequent catheterizations. Ptosis endured for 10 months as a consequence of the first catheter placement which demonstrates the importance of careful manipulation of the anatomical structures of the neck when performing any surgical manipulation in this area.

  10. Association of genetic variants with myocardial infarction in Japanese individuals with or without metabolic syndrome.

    Science.gov (United States)

    Kawamiya, Toshiki; Kato, Kimihiko; Horibe, Hideki; Yokoi, Kiyoshi; Oguri, Mitsutoshi; Yoshida, Tetsuro; Fujimaki, Tetsuo; Watanabe, Sachiro; Satoh, Kei; Aoyagi, Yukitoshi; Nozawa, Yoshinori; Murohara, Toyoaki; Yamada, Yoshiji

    2010-11-01

    The etiology of metabolic syndrome (MetS) is highly complex, with both genetic and environmental factors being thought to play an important role. Although MetS has been recognized as a risk factor for myocardial infarction (MI), the genetic risk for MI in individuals with or without MetS has remained uncharacterized. We examined a possible association of genetic variants with MI in individuals with or without MetS separately. The study population comprised 4,424 individuals, including 1,918 individuals with MetS (903 subjects with MI and 1,015 controls) and 2,506 individuals without MetS (499 subjects with MI and 2,007 controls). The 150 polymorphisms examined in the present study were selected by genome-wide association studies of MI and ischemic stroke with the use of Affymetrix GeneChip Human Mapping 500K Array Set. Initial screening by the Chi-square test revealed that the C→T polymorphism (rs1794429) of LRPAP1, the A→G polymorphism (rs12373237) of LAMA3 and the A→G polymorphism (rs3782257) of NCOR2 were significantly (false discovery rate of <0.05) associated with MI for individuals with MetS, and that the C→G polymorphism (rs13051704) of TFF1 was significantly related to MI for individuals without MetS. Subsequent multivariable logistic analysis with adjustment for covariates revealed that rs1794429 of LRPAP1 (recessive model; P=0.0218; odds ratio=0.71) and rs3782257 of NCOR2 (dominant model; P=0.0057; odds ratio=1.94) were significantly associated with MI among individuals with MetS, and that rs13051704 of TFF1 (additive model; P=0.0100; odds ratio=0.55) was significantly associated with MI among individuals without MetS. The genetic variants that confer susceptibility to MI differ between individuals with or without MetS. Stratification of subjects according to the presence or absence of MetS may thus be important for personalized prevention of MI based on genetic information. PMID:22993627

  11. A genetic risk score of 45 coronary artery disease risk variants associates with increased risk of myocardial infarction in 6041 Danish individuals

    DEFF Research Database (Denmark)

    Krarup, N T; Borglykke, A; Allin, K H;

    2015-01-01

    CAD. METHODS: Genotype was available from 6041 Danes. An unweighted GRS was constructed by making a summated score of the 45 known genetic CAD risk variants. Registries provided information (mean follow-up = 11.6 years) on CAD (n = 374) and MI (n = 124) events. Cox proportional hazard estimates with......BACKGROUND: In Europeans, 45 genetic risk variants for coronary artery disease (CAD) have been identified in genome-wide association studies. We constructed a genetic risk score (GRS) of these variants to estimate the effect on incidence and clinical predictability of myocardial infarction (MI) and...... age as time scale was adjusted for sex, BMI, type 2 diabetes mellitus and smoking status. Analyses were also stratified either by sex or median age (below or above 45 years of age). We estimated GRS contribution to MI prediction by assessing net reclassification index (NRI) and integrated...

  12. Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

    Science.gov (United States)

    Yehia, Lamis; Niazi, Farshad; Ni, Ying; Ngeow, Joanne; Sankunny, Madhav; Liu, Zhigang; Wei, Wei; Mester, Jessica L.; Keri, Ruth A.; Zhang, Bin; Eng, Charis

    2015-01-01

    Cancer-predisposing genes associated with inherited cancer syndromes help explain mechanisms of sporadic carcinogenesis and often inform normal development. Cowden syndrome (CS) is an autosomal-dominant disorder characterized by high lifetime risks of epithelial cancers, such that ∼50% of affected individuals are wild-type for known cancer-predisposing genes. Using whole-exome and Sanger sequencing of a multi-generation CS family affected by thyroid and other cancers, we identified a pathogenic missense heterozygous SEC23B variant (c.1781T>G [p.Val594Gly]) that segregates with the phenotype. We also found germline heterozygous SEC23B variants in 3/96 (3%) unrelated mutation-negative CS probands with thyroid cancer and in The Cancer Genome Atlas (TCGA), representing apparently sporadic cancers. We note that the TCGA thyroid cancer dataset is enriched with unique germline deleterious SEC23B variants associated with a significantly younger age of onset. SEC23B encodes Sec23 homolog B (S. cerevisiae), a component of coat protein complex II (COPII), which transports proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. Interestingly, germline homozygous or compound-heterozygous SEC23B mutations cause an unrelated disorder, congenital dyserythropoietic anemia type II, and SEC23B-deficient mice suffer from secretory organ degeneration due to ER-stress-associated apoptosis. By characterizing the p.Val594Gly variant in a normal thyroid cell line, we show that it is a functional alteration that results in ER-stress-mediated cell-colony formation and survival, growth, and invasion, which reflect aspects of a cancer phenotype. Our findings suggest a different role for SEC23B, whereby germline heterozygous variants associate with cancer predisposition potentially mediated by ER stress “addiction.” PMID:26522472

  13. Corticotropin-releasing hormone receptor 1 gene variants in irritable bowel syndrome.

    Directory of Open Access Journals (Sweden)

    Naoko Sato

    Full Text Available BACKGROUND: Corticotropin-releasing hormone (CRH acts mainly via the CRH receptor 1 (CRH-R1 and plays a crucial role in the stress-induced pathophysiology of irritable bowel syndrome (IBS. Several studies have demonstrated that variants of the CRH-R1 gene carry a potential risk for depression, but evidence for an association between CRH-R1 genotypes and IBS is lacking. We tested the hypothesis that genetic polymorphisms and haplotypes of CRH-R1 moderate the IBS phenotype and negative emotion in IBS patients. METHODS: A total of 103 patients with IBS and 142 healthy controls participated in the study. Three single-nucleotide polymorphisms of the CRH-R1 gene (rs7209436, rs242924, and rs110402 were genotyped. Subjects' emotional states were evaluated using the Perceived-Stress Scale, the State-Trait Anxiety Inventory, and the Self-rating Depression Scale. RESULTS: The TT genotype of rs7209436 (P = 0.01 and rs242924 (P = 0.02 was significantly more common in patients with IBS than in controls. Total sample analysis showed significant association between bowel pattern (normal, diarrhea, constipation, or mixed symptoms and the T allele of rs7209436 (P = 0.008, T allele of rs242924 (P = 0.019, A allele of rs110402 (P = 0.047, and TAT haplocopies (P = 0.048. Negative emotion was not associated with the examined CRH-R1 SNPs. CONCLUSION: These findings suggest that genetic polymorphisms and the CRH-R1 haplotypes moderate IBS and related bowel patterns. There was no clear association between CRH-R1 genotypes and negative emotion accompanying IBS. Further studies on the CRH system are therefore warranted.

  14. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis

    Energy Technology Data Exchange (ETDEWEB)

    Terespolsky, D.; Siegel-Bartelt, J.; Weksberg, R. [Univ. of Toronto (Canada); Farrell, S.A. [Credit Valley Hospital, Mississauga (Canada)

    1995-11-20

    Simpson-Golabi Behmel syndrome (SGBS) is an X-linked disorder characterized by pre- and postnatal macrosomia, minor facial anomalies, and variable visceral, skeletal, and neurological abnormalities. Since its first description by Simpson et al., a wide clinical range of cases has been reported. There is great variability in severity, ranging from a mild form associated with long-term survival to an early lethal form with multiple congenital anomalies and severe mental retardation. In 8 reported families, affected individuals died in infancy. Here we present 4 maternally related, male cousins with a severe variant of SGBS. One of these males was aborted therapeutically at 19 weeks of gestation following the detection of multicystic kidneys on ultrasound. The 3 liveborn males were hydropic at birth with a combination of craniofacial anomalies including macrocephaly; apparently low-set, posteriorly angulated ears; hypertelorism; short, broad nose with anteverted nares; large mouth with thin upper vermilion border; prominent philtrum; high-arched or cleft palate; short neck; redundant skin; hypoplastic nails; skeletal defects involving upper and lower limbs; gastrointestinal and genitourinary anomalies. All 3 patients were hypotonic and neurologically impaired from birth. With the exception of a trilobate left lung in one patient, the cardiorespiratory system was structurally normal. All patients died within the first 8 weeks of life of multiple complications including pneumonia and sepsis. Two SGBS kindreds, with moderate expression of the condition, have been mapped to Xq27. It is not known whether severe, familiar cases, such as ours, are genetically distinct from and map to another locus. Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(s). 21 refs., 4 figs., 1 tab.

  15. A REPORT OF CENTRAL RETINAL ARTERY OCCLUSION (CRAO , IN YOUNG MALES IN ITS INITIAL MANIFESTATION, AS PRIMAR Y ANTIPHOSPHOLIPID SYNDROME

    Directory of Open Access Journals (Sweden)

    Rani

    2013-05-01

    Full Text Available ABSTRACT: AIM: To report a case of Central Retinal Artery Occlusi on (CRAO in young males in its initial manifestation as Primary Antiphospholipid Syndrome. METHODS: 32 year healthy male, with abrupt sudden painless loss of vision in r ight eye since 48 hours, with Grade 2 Relative afferent pupillary defect, visual acuity of hand movements in OD and 6/18 in OS. Fundoscopy disclosed signs compatible of central reti nal artery occlusion confirmed with FFA. Carotid Doppler imaging and echocardiography was done to determine the source. RESULTS: Antiphospholipid antibody cofactor, beta2-glycoprotein 1 antibodies, IgM, was positive with titre of more than 94 un its/ml on two occasions, 1 2 weeks apart, with normal range being less than 20 units/ml for each isotope (IgG, IgM, or IgA .According to the 2006 revised Sapporo criteria Antiphospholipid syndrome was diagnosed. Thor ough examination excluded other system involvement. Immunological studies excluded other systemic disorders. CONCLUSIONS: In literature, prevalence of CRAO is 0.85% for every 100000 and prevalence of Antiphospholipid Syndrome in patients showing a major retinal vascula r obstruction is 5% - 33%. Antiphospholipid syndrome should be ruled out in every young patient who presents with Central retinal artery occlusion. Association must be considered, as Central retinal artery occlusion could be the initial manifestation of ant iphospholipid syndrome with high risk of recurrence.

  16. From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis.

    Science.gov (United States)

    Kozaczuk, Sylwia; Ben-Skowronek, Iwona

    2015-01-01

    Von Hippel-Lindau syndrome is a rare, genetically based, autosomal dominant disorder. Its course is accompanied by the development of multiple neoplasms with the following tumours diagnosed most commonly in the central nervous system haemangioblastoma, clear cell renal cell carcinoma, phaeochromocytomas, pancreatic islet tumours, and endolymphatic sac tumours. Additionally, renal and pancreatic cystadenomas and epididymal cystadenomas have been diagnosed in males and cystadenomas of the broad ligament of the uterus have been diagnosed in females.The following paper presents the diagnostic way in a boy with vision disorders as the first symptom. Hypertension retinopathy and extremely elevated blood pressure were observed during ophthalmologic consultation. Complications of arterial hypertension were confirmed by echocardiography, which diagnosed hypertension cardiomyopathy. Hypertension retinopathy was confirmed by optical coherence tomography. Examinations performed in the neurology, cardiology, and finally endocrinology indicated a bilateral phaeochromocytoma as the cause of arterial hypertension. Moreover, some genetic investigations showed a mutation in the VHL ex.1 p.Y112 C gene responsible for the hereditary form of phaeochromocytoma which confirmed von Hippel-Lindau syndrome. After surgical treatment of phaeochromocytoma the patient needed careful management according to the surveillance protocol for von Hippel-Lindau disease. PMID:26268347

  17. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?

    Directory of Open Access Journals (Sweden)

    Marjan SHAKIBA

    2013-01-01

    Full Text Available How to cite this article: Shakiba M, Nejad Biglari H, Alaee MR. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?Iran J Child Neurol Autumn 2012; 6(4: 51-54.  Abstract Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD, Mohr syndrome and Joubert syndrome. We report a patient who was referred to us because of the neurological signs suspicious of metabolic disorders. This case was a 22-year-old woman whose problems began 4 years ago with shortening of memory, ataxia, abnormal gait and diplopia which progressed slowly. She consulted many neurologists and was on treatment with the suspicion of vasculitis, but no response was detected. She had severe short stature, hypoplasia of the middle and distal phalanges of the first, second and third fingers, clinodactyly, abnormal toes, abnormal enamel and missing teeth. She had no characteristic faces of ODDD and ophthalmological abnormality. Our patient might be a variant of ODDD or a new syndrome with somatic and neurologic signs.References: Lohmann W, Beitrag zur Kenntnis des reinen Mikrophthalmus. Arch Augenheilkunde.1920;86:136-41.Berliner ML. Unilateral microphthalmia with congenital anterior synechiae and syndactyly. Arch Ophthalm. 1941;26:653-60.Bauer KH. Homoio transplantation von Epidermis bei eineiigen Zwillingen. Beitr Klin Chir. 1927;141:442-7.Pitter J, Svejda J. [The effect of x-rays as a cause of fetal misdevelopment]. Ophthalmologica. 1952 Jun;123(6:386-93.Judisch GF, Martin-Casals A, Hanson JW, Olin WH. Oculodentodigital dysplasia. Four new reports and a literature review. Arch Ophthalmol. 1979 May;97(5:878-84.Reardon W, Harbord MG, Hall-Craggs MA, Kendall B, Brett EM, Baraitser M. Central nervous system malformation in Mohr´s syndrome. J Med Genet. 1989 Oct;26(10:659-63.Ciliz D, Czturk S,Sakman B

  18. The morphological peculiarities of the cerebrum arteries under the hemorrhagic and ischemic stroke in the patients with the metabolic syndrome

    OpenAIRE

    Natalia Chuiko

    2014-01-01

    In this article, the results of the morphological study of the cerebral arteries in the patients with the hemorrhagic ischemic stroke on the background of metabolic syndrome were submitted. We established that under hemorrhagic stroke on the background of metabolic syndrome one could observe the atherosclerotic damages in the form of plaques, hyalinosis of vessels walls, destructive and necrotic changes of the middle coat of vessel wall, which are, in our opinion, the main reason in morphogen...

  19. Tumor necrosis factor alpha and alpha-1 antitrypsin gene variants in Serbian pediatric arterial ischemic stroke patients

    Directory of Open Access Journals (Sweden)

    Đorđević Valentina

    2013-01-01

    Full Text Available The etiology of arterial ischemic stroke (AIS in children is complex, and different from that in adults. Although rare, stroke in children is an important cause of mortality and morbidity. There is increasing evidence that genetic factors, including inflammation mediators, have a role in occurrence and outcome of stroke. We have chosen to assess the role of polymorphism -308G/A in the promoter of tumor necrosis factor α (TNFα gene and S and Z mutations in alpha 1-antitrypsin (AAT gene in the etiology of stroke in children. TNFα polymorphism affects plasma levels of this proinflamatory cytokine, and this could contribute to stroke pathology. It has been shown that increased AAT concentration may present a risk for AIS in children. Since S and Z mutations in AAT gene reduce its levels in plasma they could have a protective role in pediatric stroke. In this study twenty six children with AIS and 100 unrelated individuals from Serbian general population were investigated by PCR/RFLP for these gene variations. No statistically significant difference was observed between patients and general population in distribution of genotypes for -308G/A TNFα polymorphism, so its contributory role in the etiology of stroke was not evident in our group of patients. None of the tested AAT gene mutations were found in patients, which is in concordance with the proposed protective role of deficient AAT variants. AIS is a multifactorial disease, with many genes having a modest role in its pathophysiology, so further analyses of their combined effect are needed to elucidate genetic risk factors in the etiology and outcome of stroke in pediatric patients.

  20. Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

    Science.gov (United States)

    Pengelly, Reuben J; Arias, Liliana; Martínez, Julio; Upstill-Goddard, Rosanna; Seaby, Eleanor G; Gibson, Jane; Ennis, Sarah; Collins, Andrew; Briceño, Ignacio

    2016-01-01

    Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes. Through exome sequencing of multi-case families ascertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging by at least one predictive score. We discuss the functional impact of candidate variants identified. In one family we find a coding variant in the MSX1 gene which is predicted damaging by multiple scores. This variant is in exon 2, a highly conserved region of the gene. Previous sequencing has suggested that mutations in MSX1 may account for ~2% of NSCLP. Our analysis further supports evidence that a proportion of NSCLP cases arise through monogenic coding mutations, though further work is required to unravel the complex interplay of genetics and environment involved in facial clefting. PMID:27456059

  1. Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

    Science.gov (United States)

    Itoh, Hideki; Berthet, Myriam; Fressart, Véronique; Denjoy, Isabelle; Maugenre, Svetlana; Klug, Didier; Mizusawa, Yuka; Makiyama, Takeru; Hofman, Nynke; Stallmeyer, Birgit; Zumhagen, Sven; Shimizu, Wataru; Wilde, Arthur A M; Schulze-Bahr, Eric; Horie, Minoru; Tezenas du Montcel, Sophie; Guicheney, Pascale

    2016-08-01

    Transmission distortion of disease-causing alleles in long QT syndrome (LQTS) has been reported, suggesting a potential role of KCNQ1 and KCNH2 in reproduction. This study sought to investigate parental transmission in LQTS families according to ethnicity, gene loci (LQT1-3: KCNQ1, KCNH2, and SCN5A) or severity of channel dysfunction. We studied 3782 genotyped members from 679 European and Japanese LQTS families (2748 carriers). We determined grandparental and parental origins of variant alleles in 1903 children and 624 grandchildren, and the grandparental origin of normal alleles in healthy children from 44 three-generation control families. LQTS alleles were more of maternal than paternal origin (61 vs 39%, Pgrandmother alleles. For LQT1, maternal transmission differs according to the variant level of dysfunction with 68% of maternal transmission for dominant negative or unknown functional consequence variants vs 58% for non-dominant negative and variants leading to haploinsufficiency, P<0.01; however, for LQT2 or LQT3 this association was not significant. An excess of disease-causing alleles of maternal origin, most pronounced in LQT1, was consistently found across ethnic groups. This observation does not seem to be linked to an imbalance in transmission of the LQTS subtype-specific grandparental allele, but to the potential degree of potassium channel dysfunction. PMID:26669661

  2. Association of increased triglyceride levels in metabolic syndrome with coronary artery disease

    International Nuclear Information System (INIS)

    Objective: We tried to understand significance of increased triglyceride (TG) values in metabolic syndrome and coronary artery disease (CAD). Methodology: Check up cases with a TG value lower than 60 mg/dL were collected into the first, between 60 and 99 mg/dL into the second, between 100 and 149 mg/dL into the third, between 150 and 199 into the fourth, and 200 mg/dL and greater into the fifth groups. Results: Study included 478 cases. Values of the mean age, weight, body mass index, TG, and low density lipoprotein cholesterol (LDL-C) and prevalence of smoking, white coat hypertension (WCH), hypertension (HT), type 2 diabetes mellitus (DM), and CAD increased gradually and significantly nearly in all steps from the first towards the fifth groups. Conclusion: Metabolic syndrome may be a progression step between complete physical health and irreversible end points, such as obesity, type 2 DM, HT, CAD, and stroke. Hypertriglyceridemia and White Coat Hypertension (WCH) may be the most significant reversible parameters of the syndrome, and it is better to have the lowest TG value as much as possible. The most significant increase was seen after the value of 100 mg/dL. The overweight, smoking, hypertriglyceridemia, hyperbetalipoproteinemia, and WCH may only be one of hundreds of parameters of the syndrome. Therefore, it is advisable that underlying etiologies rather than reversible parameters of the syndrome should be targeted for treatment. For example, increased TG and LDL-C values, and prevalence of WCH by aging may be secondary to decreased physical and mental stresses in elderly. (author)

  3. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

    Science.gov (United States)

    You, Jing; Sobreira, Nara L; Gable, Dustin L; Jurgens, Julie; Grange, Dorothy K; Belnap, Newell; Siniard, Ashley; Szelinger, Szabolcs; Schrauwen, Isabelle; Richholt, Ryan F; Vallee, Stephanie E; Dinulos, Mary Beth P; Valle, David; Armanios, Mary; Hoover-Fong, Julie

    2016-05-01

    The proteins encoded by TELO2, TTI1, and TTI2 interact to form the TTT complex, a co-chaperone for maturation of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). Here we report six affected individuals from four families with intellectual disability (ID) and neurological and other congenital abnormalities associated with compound heterozygous variants in TELO2. Although their fibroblasts showed reduced steady-state levels of TELO2 and the other components of the TTT complex, PIKK functions were normal in cellular assays. Our results suggest that these TELO2 missense variants result in loss of function, perturb TTT complex stability, and cause an autosomal-recessive syndromic form of ID. PMID:27132593

  4. [Fragile X syndrome with Dandy-Walker variant: a clinical study of oral and written communicative manifestations].

    Science.gov (United States)

    Lamônica, Dionísia Aparecida Cusin; Ferraz, Plínio Marcos Duarte Pinto; Ferreira, Amanda Tragueta; Prado, Lívia Maria do; Abramides, Dagma Venturini Marquez; Gejão, Mariana Germano

    2011-01-01

    The Fragile X syndrome is the most frequent cause of inherited intellectual disability. The Dandy-Walker variant is a specific constellation of neuroradiological findings. The present study reports oral and written communication findings in a 15-year-old boy with clinical and molecular diagnosis of Fragile X syndrome and neuroimaging findings consistent with Dandy-Walker variant. The speech-language pathology and audiology evaluation was carried out using the Communicative Behavior Observation, the Phonology assessment of the ABFW - Child Language Test, the Phonological Abilities Profile, the Test of School Performance, and the Illinois Test of Psycholinguistic Abilities. Stomatognathic system and hearing assessments were also performed. It was observed: phonological, semantic, pragmatic and morphosyntactic deficits in oral language; deficits in psycholinguistic abilities (auditory reception, verbal expression, combination of sounds, auditory and visual sequential memory, auditory closure, auditory and visual association); and morphological and functional alterations in the stomatognathic system. Difficulties in decoding the graphical symbols were observed in reading. In writing, the subject presented omissions, agglutinations and multiple representations with the predominant use of vowels, besides difficulties in visuo-spatial organization. In mathematics, in spite of the numeric recognition, the participant didn't accomplish arithmetic operations. No alterations were observed in the peripheral hearing evaluation. The constellation of behavioral, cognitive, linguistic and perceptual symptoms described for Fragile X syndrome, in addition to the structural central nervous alterations observed in the Dandy-Walker variant, caused outstanding interferences in the development of communicative abilities, in reading and writing learning, and in the individual's social integration. PMID:21829935

  5. A 64-year old man presenting with carotid artery occlusion and corticobasal syndrome: a case report

    Directory of Open Access Journals (Sweden)

    de Gans Jan

    2011-08-01

    Full Text Available Abstract Introduction Magnetic resonance imaging of the brain in patients with corticobasal degeneration typically shows focal or asymmetric atrophy, usually maximal in the frontoparietal cortex. Many patients who are diagnosed with corticobasal degeneration using current diagnostic criteria do not have classical corticobasal degeneration pathology. Our case is remarkable for the fact that the symptoms and the characteristic magnetic resonance imaging appearance were typical for corticobasal degeneration. However, we were quite convinced that the clinical picture had a vascular etiology. Only a few cases have been reported where the presumed cause for the corticobasal syndrome was multiple brain infarctions bilaterally. Case presentation A 64-year-old Caucasian man visited a neurologist because of profound asymmetric sensory and motor disturbances. A magnetic resonance imaging scan of his brain revealed occlusion of his internal carotid artery on the left side with multiple vascular lesions in his left hemisphere and notable atrophy of mainly the left parietal and frontal cortex. Conclusion We describe a patient with corticobasal syndrome caused by multiple infarctions, probably caused by emboli of the carotid stenosis. This patient illustrates the fact that the word 'syndrome' should be preferred above 'degeneration' in the name of this disease.

  6. Pulmonary arterial occlusions and aneurysms: a forme fruste of Behçet's or Hughes-Stovin syndrome.

    OpenAIRE

    Bowman, S; Honey, M.

    1990-01-01

    A patient is reported with pulmonary arterial occlusions and aneurysms and recurrent haemoptysis. He gave a history of recurrent arthropathy and febrile illnesses; though he had had no other features of Behçet's or Hughes-Stovin syndrome his disease probably fell into this broad diagnostic category.

  7. Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome

    NARCIS (Netherlands)

    de Leeuw, K.; Goorhuis, J. F.; Tielliu, I. F. J.; Symoens, S.; Malfait, F.; de Paepe, A.; van Tintelen, J. P.; Hulscher, J. B. F.

    2012-01-01

    A 9-year-old boy with the classical type of EhlersDanlos syndrome (EDS) developed a symptomatic aneurysm of the superior mesenteric artery. His EDS diagnosis had been confirmed biochemically and genetically. Vascular complications are known to be associated with the vascular type of EDS, but this is

  8. Unilateral pulmonary artery stenosis and late-onset cataract in an adult: a case of suspected congenital rubella syndrome

    Institute of Scientific and Technical Information of China (English)

    LIU Yang; GUO Jun; ZHAO Rui-fu; WANG Lin

    2012-01-01

    Congenital rubella syndrome (CRS) is characterized by the triad of deafness,cataract and cardiovascular malformations.1 The great majority of the cases in the literature have been usually diagnosed in infancy and childhood because of various defects at birth.However,we report a rare case of suspected CRS in an adult with unilateral pulmonary artery stenosis and late-onset cataract.

  9. The Clinical Role of CT-Based Morphologic Description in Severely Calcified Coronary Arteries Ectasia Encountering Acute Coronary Syndrome

    OpenAIRE

    Jen-Yuan Kuo; Jiun-Yi Li; Chung-Lieh Hung; Yen-Yu Liu; Jui-Peng Tsai

    2012-01-01

    Diffuse coronary arteries ectasia combined with calcification is seldom reported. Acute coronary syndrome, a potentially life-threatening disease, accompanied with coronary ectasia and diffuse calcification, made percutaneous coronary intervention difficult and risky owing to increasing complications rate. Dual-source computed tomography and three-dimensional volume rendering images help cardiovascular surgeon easier to localize the ideal site and facilitate the procedure.

  10. Effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness of female patients with metabolic syndrome.

    Science.gov (United States)

    Kang, Seol-Jung; Kim, Eon-Ho; Ko, Kwang-Jun

    2016-06-01

    [Purpose] The purpose of this study was to investigate the effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness or female patients with metabolic syndrome. [Subjects and Methods] Subjects were randomly assigned to an exercise group (n=12) or a control group (n=11). Subjects in the exercise group performed aerobic exercise at 60-80% of maximum heart rate for 40 min 5 times a week for 12 weeks. The changes in metabolic syndrome risk factors, resting heart rate, physical fitness, and arterial stiffness were measured and analyzed before and after initiation of the exercise program to determine the effect of exercise. Arterial stiffness was assessed based on brachial-ankle pulse wave velocity (ba-PWV). [Results] Compared to the control group; The metabolic syndrome risk factors (weight, % body fat, waist circumference, systolic blood pressure, diastolic blood pressure, and HDL-Cholesterol) were significantly improved in the exercise: resting heart rate was significantly decreased; VO2max, muscle strength and muscle endurance were significantly increased; and ba-PWV was significantly decreased. [Conclusion] Aerobic exercise had beneficial effects on the resting heart rate, physical fitness, and arterial stiffness of patients with metabolic syndrome. PMID:27390411

  11. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

    DEFF Research Database (Denmark)

    Boonen, Susanne E; Hahnemann, Johanne M D; Mackay, Deborah; Tommerup, Niels; Brøndum-Nielsen, Karen; Tümer, Zeynep; Grønskov, Karen

    2012-01-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations of...... the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at multiple imprinted loci, including KCNQ1OT1 DMR in some. The aim of our study was to determine whether ZFP57 alterations were a genetic cause of the hypomethylation at KCNQ1OT1 DMR in...... patients with BWS. We sequenced ZFP57 in 27 BWS probands and in 23 available mothers to test for a maternal effect. We identified three novel, presumably benign sequence variants in ZFP57; thus, we found no evidence for ZFP57 alterations as a major cause in sporadic BWS cases....

  12. Molecular Pathology of 6 Novel GJB2 Allelic Variants Detected in Familial and Sporadic Iranian Non Syndromic Hearing Loss Cases

    Directory of Open Access Journals (Sweden)

    M Hashemzadeh Chaleshtori

    2008-09-01

    Full Text Available "nBackground: Mutations of GJB2 gene encoding connexion 26 are the most common cause of hearing loss in many popula­tions. A very wide spectrum of GJB2 gene mutations associated with hearing loss have been detected but pathogenic role has been tested only for a part of them. In this study, we have provided genetic evidence on the pathogenicity of our previ­ously reported novel GJB2 allelic variants. "nMethods: The pathogenic role of GJB2 allelic variants were assessed using co segregation of each allelic variant with hear­ing loss in family members, absence of the allelic variants in control populations, coexistence with a second GJB2 mutation, na­ture of the amino acid substitution and evolutionary conservation of the appropriate amino acid. "nResults: The GJB2 allelic variants including 363delC, 327delGGinsA, H16R and G200R have been co segregated with auto­somal recessive non syndromic hearing loss in five families and are not found in control subjects. The G130V and K102Q were found in heterozygous state in two deaf individuals. G130V results in an exchange a residue highly conserved among all the connexins but was found with a rate of 1% in control subjects and K102Q results in an exchange a residue not con­served among all the connexins and not identified in control subjects. "nConclusion: We conclude that, 363delC, 327delGGinsA, H16R and G200R may be pathogenic. However, the pathogenic­ity and inheritance of K102Q and G130V can not be assessed clearly and remains to be identified.

  13. Coronary artery disease incidence between type II diabetic and non-diabetic patients with Leriche syndrome.

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    Ozeren M

    2003-10-01

    Full Text Available BACKGROUND: Coronary artery disease (CAD is the major determinant of preoperative morbidity and mortality for patients requiring major vascular surgery. The management of CAD in these patients is controversial. AIMS: The incidence and severity of CAD in diabetic and non-diabetic patients with Leriche syndrome was explored. SETTINGS AND DESIGN: 107 patients with Leriche syndrome were selected as major vascular occlusion and grouped according to their diabetic Status. Sex, age, dyslipidemia, obesity, hypertension, clinic cardiac status, coronary angiographic lesions and coronary revascularisation procedures were noted. MATERIAL & METHODS: Patients′ demographics, intra-operative and per-operative data were recorded and compared. In every patient with Leriche syndrome scheduled for elective vascular reconstruction coronary angiography was performed. Lesions were evaluated for the percentages of stenosis. Preliminary coronary bypass or percutaneous coronary intervention was recommended for those found to have advanced or severe CAD. Results of revascularisation procedures were compared. STATISTICAL ANALYSIS USED: Chi-square or Fisher exact chi-square test is used for conditional variables. Independent samples was analysed by using t-test. Kruskal-Wallis variance test was used if the variances are not homogeneous according to the Levene test. RESULTS: No difference was found in both groups except family history and obesity. Coronary angiographic investigation indicates that 59% of DIAB group and 38% of NONDIAB group patients have advanced or severe CAD which has a high probability for myocardial revascularization. Overall revascularisation rate is 37.8% in DIAB group and 45.7% in NONDIAB group (p=0,641. Preoperative mortality was found 2.7% in diabetics and 4.2% in non-diabetics (p=0.342. CONCLUSIONS: Leriche syndrome with diabetes mellitus is more likely to have advanced coronary disease than those without diabetes mellitus. Coronary angiography

  14. Exploration of Syndrome Differentiation Patterns in Coronary Heart Disease Patients during Peri-Operative Stage of Coronary Artery Bypass Graft

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective: To explore the patterns of Syndrome Differentiation (SD) of coronary heart disease (CHD) patients in peri-operative stage of coronary artery bypass graft (CABG). Methods: One week after operation, thirty-seven CHD patients, who received CABG of internal mammary artery or great saphena vein under conventional general anesthesia with low or middle temperature extracorporeal circulation were differentiated as various syndromes, with the pre- or post-operational EKG, color Doppler echocardiography were done during and after operation. The hemodynamic parameters were monitored. Results: In the CHD patients, 64.9% were differentiated as Qi-Yin deficiency, 67.6% were complicated with phlegm syndrome and 62.2% with blood stasis, suggesting that Qi-deficiency, phlegm and stasis are the basic pathogenetic factors in patients with CABG. Moreover, the peri-operative syndrome was correlated with the condition of coronary artery lesion, heart and lung functions before operation, and the extracorporeal circulation time during the operation. Conclusion: TCM SD conducting in peri-operative stage might be useful in exploring the patterns of syndrome alteration which provided a basis for preventing peri-operative complications and elevating success rate of operation.

  15. C-Reactive protein gene variants are associated with postoperative C-reactive protein levels after coronary artery bypass surgery

    OpenAIRE

    Collard Charles D; Fox Amanda A; Liu Kuang-Yu; Muehlschlegel Jochen D; Perry Tjörvi E; Body Simon C; Shernan Stanton K

    2009-01-01

    Abstract Background Elevated baseline C-reactive protein (CRP) levels are associated with increased risk for developing cardiovascular disease. Several CRP gene variants have been associated with altered baseline CRP levels in ambulatory populations. However, the influence of CRP gene variants on CRP levels during inflammatory states, such as surgery, is largely unexplored. We describe the association between candidate CRP gene variants and postoperative plasma CRP levels in patients undergoi...

  16. RENOVASCULAR HYPERTENSION DUE TO RENAL ARTERY STENOSIS IN KLIPPEL-FEIL SYNDROME

    Directory of Open Access Journals (Sweden)

    Foyaca-Sibat H. MD.

    2003-01-01

    Full Text Available ABSTRACT We report one patient with Klippel-Feil (KFS syndrome, other associated anomalies, uncontrolled arterial hypertension, and renal artery stenosis. Because this patient underwent for surgical revascularization with unsuccessful result, all proposed way of treatments are revised, and we have hypothesized that probably for patients with KFS and unilateral renal artery stenosis, medical treatment with ACE inhibitors can provide more benefits than surgical revascularization or percutaneous transluminal angioplasty. We considered that those patients should be manage by a team of medical doctors being aware of their common associated anomalies, identifying all of them when it is possible then, making an integral evaluation of the each individual situation for establishing their medical priorities in order, and then address its treatments accordingly. If at this stage any surgical treatment is required, is important to bring those problems to the anesthesiologist’s attention for a very careful manipulation of the neck and head during induction of anesthesia. The final results will be strongly related with the capacity of management of the underlying cardio-respiratory, renal, skeletal, urogenital, and nervous system problems. . We also propose the term of Klippel-Feil syndrome "Plus" for those patients with cervical vertebral fusion and many other associated deformities rather than to add new eponyms to the long list that already exist. _____________ RESUMEN: HIPERTENSION RENOVASCULAR DEBIDO A ESTENOSIS DE LA ARTERIA RENAL EN EL SÍNDROME DE KLIPPEL-FEIL Reportamos un paciente afectado por un syndrome de Klippel-Feil, otras anormalias congenitas, hipertension arterial incontrolada y una estenosis unilateral de la arteria renal. Este paciente fue sometido a un tratamiento quirÚrgico de la estenosis de la arteria renal, cuyos resultados fueron no satisfactorios por lo que revisamos todas las alternativas de tratamiento para la estenosis

  17. Atypical unilateral posterior reversible encephalopathy syndrome mimicking a middle cerebral artery infarction

    Energy Technology Data Exchange (ETDEWEB)

    Camidag, Ilkay [Dept. of Radiology, Ondokuz Mayis University, Faculty of Medicine, Samsun (Turkmenistan); Cho, Yang Je; Park, Mina; Lee, Seung Koo [Yonsei University Severance Hospital, Seoul (Korea, Republic of)

    2015-10-15

    Posterior reversible encephalopathy syndrome (PRES) is usually a reversible clinical and radiological entity associated with typical features on brain MR or CT imaging. However, the not-so-uncommon atypical radiological presentations of the condition are also present and they may go unrecognised as they are confused with other conditions. Here, we report a very rare case of atypical, unilateral PRES in a 49-year-old uremic, post-transplant female patient who presented with seizures. Initial MRI showed high-grade occlusion of the left middle cerebral artery (MCA) and lesions suggestive of subacute infarction in the ipsilateral frontotemporoparietal lobe. Patient symptoms had resolved a day after the onset without any specific treatment but early follow-up CT findings suggested hemorrhagic transformation. Follow-up MRI performed 2 years later showed complete disappearence of the lesions and persisting MCA occlusion.

  18. Distinct Patterns of Association of Variants at 11q23.3 Chromosomal Region with Coronary Artery Disease and Dyslipidemia in the Population of Andhra Pradesh, India.

    Directory of Open Access Journals (Sweden)

    Rayabarapu Pranav Chand

    Full Text Available In our attempt to comprehensively understand the nature of association of variants at 11q23.3 apolipoprotein gene cluster region, we genotyped a prioritized set of 96 informative SNPs using Fluidigm customized SNP genotyping platform in a sample of 508 coronary artery disease (CAD cases and 516 controls. We found 12 SNPs as significantly associated with CAD at P <0.05, albeit only four (rs2849165, rs17440396, rs6589566 and rs633389 of these remained significant after Benjamin Hochberg correction. Of the four, while rs6589566 confers risk to CAD, the other three SNPs reduce risk for the disease. Interaction of variants that belong to regulatory genes BUD13 and ZPR1 with APOA5-APOA4 intergenic variants is also observed to significantly increase the risk towards CAD. Further, ROC analysis of the risk scores of the 12 significant SNPs suggests that our study has substantial power to confer these genetic variants as predictors of risk for CAD, as illustrated by AUC (0.763; 95% CI: 0.729-0.798, p = <0.0001. On the other hand, the protective SNPs of CAD are associated with elevated Low Density Lipoprotein Cholesterol and Total Cholesterol levels, hence with dyslipidemia, in our sample of controls, which may suggest distinct effects of the variants at 11q23.3 chromosomal region towards CAD and dyslipidemia. It may be necessary to replicate these findings in the independent and ethnically heterogeneous Indian samples in order to establish this as an Indian pattern. However, only functional analysis of the significant variants identified in our study can provide more precise understanding of the mechanisms involved in the contrasting nature of their effects in manifesting dyslipidemia and CAD.

  19. Distinct Patterns of Association of Variants at 11q23.3 Chromosomal Region with Coronary Artery Disease and Dyslipidemia in the Population of Andhra Pradesh, India.

    Science.gov (United States)

    Pranav Chand, Rayabarapu; Kumar, Arramraju Sreenivas; Anuj, Kapadia; Vishnupriya, Satti; Mohan Reddy, Battini

    2016-01-01

    In our attempt to comprehensively understand the nature of association of variants at 11q23.3 apolipoprotein gene cluster region, we genotyped a prioritized set of 96 informative SNPs using Fluidigm customized SNP genotyping platform in a sample of 508 coronary artery disease (CAD) cases and 516 controls. We found 12 SNPs as significantly associated with CAD at P <0.05, albeit only four (rs2849165, rs17440396, rs6589566 and rs633389) of these remained significant after Benjamin Hochberg correction. Of the four, while rs6589566 confers risk to CAD, the other three SNPs reduce risk for the disease. Interaction of variants that belong to regulatory genes BUD13 and ZPR1 with APOA5-APOA4 intergenic variants is also observed to significantly increase the risk towards CAD. Further, ROC analysis of the risk scores of the 12 significant SNPs suggests that our study has substantial power to confer these genetic variants as predictors of risk for CAD, as illustrated by AUC (0.763; 95% CI: 0.729-0.798, p = <0.0001). On the other hand, the protective SNPs of CAD are associated with elevated Low Density Lipoprotein Cholesterol and Total Cholesterol levels, hence with dyslipidemia, in our sample of controls, which may suggest distinct effects of the variants at 11q23.3 chromosomal region towards CAD and dyslipidemia. It may be necessary to replicate these findings in the independent and ethnically heterogeneous Indian samples in order to establish this as an Indian pattern. However, only functional analysis of the significant variants identified in our study can provide more precise understanding of the mechanisms involved in the contrasting nature of their effects in manifesting dyslipidemia and CAD. PMID:27257688

  20. Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome

    OpenAIRE

    Marschik, Peter; Einspieler, Christa; Oberle, Andreas; Laccone, Franco; Prechtl, Heinz

    2009-01-01

    The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye opening, and abnormal facial expressions are early signs proving that this variant of the Rett comp...

  1. Gingival Enlargement in a Case of Variant Jones Syndrome: a Case Report

    Science.gov (United States)

    DA, Roopa; Singh, Shinkhala; Gupta, Ira; Gopal, Saumiya

    2016-01-01

    Gingival enlargement can be caused by a variety of etiological factors like inflammation, drugs, and systemic diseases or can be presented as a part of a syndrome. One such syndrome is Jones Syndrome, which is associated with gingival enlargement and progressive hearing loss. We present here a case of fifteen-year-old boy with gingival enlargement, hearing loss, and generalized alveolar bone loss and diagnosed as Jones syndrome. The diagnosis was made based on history, clinical, radiographic, and histopathological findings. Gingival enlargement was surgically managed using gingivectomy and no recurrence was observed. The patient showed remarkable esthetical and functional improvement. PMID:26966711

  2. An Unusual Aneurysm of the Main Pulmonary Artery Presenting as Acute Coronary Syndrome

    International Nuclear Information System (INIS)

    A 70-year old man presented with retrosternal chest pain. His electrocardiogram showed nonspecific T wave changes. Cardiac-specific troponin I (cTnI) was elevated. His condition was managed as acute coronary syndrome, following which he had two minor episodes of hemoptysis. A CT pulmonary angiogram showed no evidence of pulmonary embolism, but a large mass lesion was seen in the mediastinum. Echocardiography and cardiac MRI demonstrated a large solid mass, arising from the right ventricular outflow tract and causing compression of the main pulmonary artery (MPA). The differential diagnosis included pericardial and myocardial tumors and clotted aneurysm of the MPA. At surgery, a clotted aneurysmal sac was identified originating from the MPA and the defect was healed. Aneurysms of the MPA are rare. They most commonly present with dyspnea and chest pain. Compression of surrounding structures produces protean manifestations. A high index of suspicion coupled with imaging modalities establishes the diagnosis. Blunt trauma to the chest, at the time of an accident 4 years previously, may explain this aneurysm. The patient's presentation with chest pain was probably due to compression and/or stretching of surrounding structures. Coronary artery compression simulating acute coronary syndrome has been documented in the literature. The rise in cTnI may have been due to right ventricular strain, as a result of right ventricular outflow obstruction by the aneurysm. This has not been reported previously in the literature. The saccular morphology and narrow neck of the aneurysm predisposed to stagnation leading to clotting of the lumen and healing of the tear, which caused the diagnostic difficulty

  3. Comparing Two Ovulation Induction Methods by Brachial Artery Ultrasonography in Infertile Women with Polycystic Ovary Syndrome

    Directory of Open Access Journals (Sweden)

    B Ghorbani Yekta

    2012-07-01

    Full Text Available Background: Endothelial dysfunction can influence fertility rate in women with polycystic ovary syndrome (PCOS as flow mediated dilatation (FMD is impaired in patients with the disease. The aim of this study was to compare two methods of ovulation induction by letrozole or letrozole plus human menopausal gonadotropins (HMGs in infertile women with PCOS who were resistant to clomiphene citrate based on brachial artery ultrasound findings.Methods: In this double -blind randomized clinical trial, 59 infertile women who had the inclusion criteria for PCOS were evaluated in the Infertility Clinic of Shariati Hospital in Tehran, Iran in 2010-2011. The patients were assigned to two letrozole and letrozole plus HMG groups and were evaluated for FMD in the brachial artery by transvaginal ultrasonography. Later, the values were recorded and analyzed statistically.Results: In the letrozole group, infertility treatment was successful in 15 (57.7% but it failed in 11 (42.3% patients. In letrozole plus HMG group, the treatment was successful in 18 (54.5% while it failed in 15 (45.5% patients. The mean FMD values in the groups with successful and unsuccessful treatment results were 19.42±10% and 18.57±7.2%, respectively, but the difference was not statistically significant (P=0.712. Moreover, the average endometrial thickness in groups with successful and unsuccessful treatment results were 8.4±1.3 mm and 9.8±3.9 mm, respectively but the difference was not significant either (P=0.06.Conclusion: In infertile women with polycystic ovary syndrome that are resistant to clomiphene, letrozole or letrozole combined with gonadotropin can be equally effective for ovulation induction.

  4. A rare variant route of the ulnar artery does not contraindicate the creation of a fistula in the wrist of a diabetic patient with end-stage renal disease

    Directory of Open Access Journals (Sweden)

    Mirosław Banasik

    2011-10-01

    Full Text Available A superficial variant route of the ulnar artery is a rare variation of the arterial system of the wrist. The route of the arteries in that region is extremely important for patients with end-stage renal disease due to the necessity to create an arteriovenous fistula for hemodialysis. It is thought that the vascular access is too often achieved by catheters or vascular prostheses because of that each possibility to create a fistula in the wrist region should be utilized. In our patient a rare variant route of the ulnar artery was observed in the wrist region. Instead of a deep route between the muscles the artery did not only run superficially, but, also untypically, first laterally and then medially. A variation of the ulnar artery’s route may evoke a fear of hand ischemia after creation arteriovenous fistula for hemodialysis. The fear may be connected with blood supply throw the palmar arch which is created by radial and ulnar artery. This fear of the doctor may result in avoiding the attempt to create an arteriovenous fistula on the wrist. The authors demonstrate that the variant route of the ulnar artery is not a contraindication to the creation of a fistula on the wrist using the radial artery because of a fear of hand ischemia.

  5. Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

    Science.gov (United States)

    Yoo, Hee Jeong; Kim, Kyung; Kim, In Hyang; Rho, Seong-Hwan; Park, Jong-Eun; Lee, Ki Young; Kim, Soon Ae; Choi, Byung Yoon; Kim, Namshin

    2015-01-01

    Rubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000-720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis. The purpose of this study was to use whole exome sequencing (WES) to evaluate the genetic causes of RSTS in a young girl presenting with an Autism phenotype. We used the Autism diagnostic observation schedule (ADOS) and Autism diagnostic interview revised (ADI-R) to confirm her diagnosis of Autism. In addition, various questionnaires were used to evaluate other psychiatric features. We used WES to analyze the DNA sequences of the patient and her parents and to search for de novo variants. The patient showed all the typical features of Autism, WES revealed a de novo frameshift mutation in CREBBP and de novo sequence variants in TNC and IGFALS genes. Mutations in the CREBBP gene have been extensively reported in RSTS patients, while potential missense mutations in TNC and IGFALS genes have not previously been associated with RSTS. The TNC and IGFALS genes are involved in central nervous system development and growth. It is possible for patients with RSTS to have additional de novo variants that could account for previously unexplained phenotypes. PMID:25768348

  6. Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation

    Directory of Open Access Journals (Sweden)

    Hee Jeong Yoo

    2015-03-01

    Full Text Available Rubinstein-Taybi syndrome (RSTS is a rare condition with a prevalence of 1 in 125,000–720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis. The purpose of this study was to use whole exome sequencing (WES to evaluate the genetic causes of RSTS in a young girl presenting with an Autism phenotype. We used the Autism diagnostic observation schedule (ADOS and Autism diagnostic interview revised (ADI-R to confirm her diagnosis of Autism. In addition, various questionnaires were used to evaluate other psychiatric features. We used WES to analyze the DNA sequences of the patient and her parents and to search for de novo variants. The patient showed all the typical features of Autism, WES revealed a de novo frameshift mutation in CREBBP and de novo sequence variants in TNC and IGFALS genes. Mutations in the CREBBP gene have been extensively reported in RSTS patients, while potential missense mutations in TNC and IGFALS genes have not previously been associated with RSTS. The TNC and IGFALS genes are involved in central nervous system development and growth. It is possible for patients with RSTS to have additional de novo variants that could account for previously unexplained phenotypes.

  7. Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV

    Directory of Open Access Journals (Sweden)

    Anna Rocci

    2015-03-01

    Full Text Available We report a case of multiple spontaneous arteries dissection in a 52-year-old female; the patient had a relevant family history of vascular complications and typical features so we hypothesized vascular Ehlers-Danlos syndrome (EDS that was confirmed by genetic analysis of COL3A1 gene. We adopted a conservative approach: the patient was treated with heparin in the acute phase followed by aspirin and then celiprolol was started on the basis of a recent trial that demonstrates a reduction in arterial events in EDS patient treated. A careful follow-up was done with Doppler ultrasound and computed tomography scan, as non-invasive diagnostic techniques are preferred in these patients, and no other vascular symptomatic events have occurred. We tested all living relatives: half of them had COL3A1 mutation, they were referred to another center specialized in rare diseases and EDS for long-term follow-up and genetic counseling. This case demonstrates as a careful evaluation of clinical signs, clinical history of the patient and his family has allowed a definitive diagnosis, proper management of the patient during the acute event and in terms of prophylaxis of recurrence.

  8. Left ventricular dysfunction during exercise in patients with angina pectoris and angiographically normal coronary arteries (syndrome X)

    International Nuclear Information System (INIS)

    Left ventricular function during exercise and recovery was investigated in patients with angina pectoris, ST segment depression during exercise and angiographically normal coronary arteries (syndrome X) using a continuous left ventricular function monitor with cadmium telluride detector (CdTe-VEST). Fourteen patients with syndrome X and 14 patients with atypical chest pain without ST segment depression during exercise and normal coronary arteries (control group) performed supine ergometric exercise after administration of 740-925 MBq of technetium-99m labelled red blood cells, and left ventricular function was monitored every 20 s using CdTe-VEST. Left ventricular ejection fraction (EF) response was impaired (≤ 5% increase from rest to peak exercise) in 11 or 14 patients with syndrome X but in none of the control patients. Resting EF was similar in the two groups (62.1% ± 6.7% in patients with syndrome X, 61.9% ± 6.2% in controls); however, EF increase from rest to peak exercise was lower in syndrome X (-3.1 ± 9.5% vs 14.7% ± 7.4%). After cessation of exercise, all patients showed rapid EF increase over baseline and this EF overshoot was lower (19.3% ± 8.3% vs 26.4% ± 7.3%) with the time to EF overshoot longer (114 ± 43 s vs 74 ± 43 s, P < 0.05) in patients with syndrome X. (orig./MG)

  9. Impact of type 2 diabetes and the metabolic syndrome on myocardial structure and microvasculature of men with coronary artery disease

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    Yii Michael

    2011-09-01

    Full Text Available Abstract Background Type 2 diabetes and the metabolic syndrome are associated with impaired diastolic function and increased heart failure risk. Animal models and autopsy studies of diabetic patients implicate myocardial fibrosis, cardiomyocyte hypertrophy, altered myocardial microvascular structure and advanced glycation end-products (AGEs in the pathogenesis of diabetic cardiomyopathy. We investigated whether type 2 diabetes and the metabolic syndrome are associated with altered myocardial structure, microvasculature, and expression of AGEs and receptor for AGEs (RAGE in men with coronary artery disease. Methods We performed histological analysis of left ventricular biopsies from 13 control, 10 diabetic and 23 metabolic syndrome men undergoing coronary artery bypass graft surgery who did not have heart failure or atrial fibrillation, had not received loop diuretic therapy, and did not have evidence of previous myocardial infarction. Results All three patient groups had similar extent of coronary artery disease and clinical characteristics, apart from differences in metabolic parameters. Diabetic and metabolic syndrome patients had higher pulmonary capillary wedge pressure than controls, and diabetic patients had reduced mitral diastolic peak velocity of the septal mitral annulus (E', consistent with impaired diastolic function. Neither diabetic nor metabolic syndrome patients had increased myocardial interstitial fibrosis (picrosirius red, or increased immunostaining for collagen I and III, the AGE Nε-(carboxymethyllysine, or RAGE. Cardiomyocyte width, capillary length density, diffusion radius, and arteriolar dimensions did not differ between the three patient groups, whereas diabetic and metabolic syndrome patients had reduced perivascular fibrosis. Conclusions Impaired diastolic function of type 2 diabetic and metabolic syndrome patients was not dependent on increased myocardial fibrosis, cardiomyocyte hypertrophy, alteration of the

  10. Relationship between coronary artery ectasia, cocaine abuse and acute coronary syndromes

    Science.gov (United States)

    Dendramis, Gregory; Paleologo, Claudia; Piraino, Davide; Assennato, Pasquale

    2016-01-01

    Coronary artery ectasia (CAE) often represents a coronary angiography finding casually detected or following the occurrence of an acute coronary syndrome. The pathogenetic role of cocaine abuse in the genesis of CAE is still little known and very few data are available in literature. We describe a case of a 31-year-old male cocaine user admitted to our department for typical acute chest pain. Coronary angiography showed diffuse coronary ectasia with slow flows and without hemodynamically significant stenosis. An increasing of matrix metalloproteinases values and a reduction of their tissue inhibitors was showed both during hospitalization and at one month after discharge. This case report emphasizes the close relationship between cocaine abuse, CAE and acute coronary syndromes in patients without hemodynamically significant coronary stenosis. As reported by Satran et al, cocaine abuse should be considered an important risk factor for CAE and these patients appear to be at increased risk of angina and acute myocardial infarct. Further studies that can strengthen this hypothesis would be useful to deepen and better analyze this interesting association. PMID:27231522

  11. Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report

    Directory of Open Access Journals (Sweden)

    Samira Luiza dos Apóstolos-Pereira

    2013-06-01

    Full Text Available We report the case of a 24-year-old man presenting with sudden visual loss in the left eye from a central retinal artery occlusion. An extensive clinical investigation revealed no etiology. Three weeks later, however, the patient developed hearing loss followed by encephalopathy and multiple branch retinal artery occlusions in the right eye. Fluorescein angiography confirmed retinal vascular occlusions with no sign of vasculitis. The neurological examination revealed a diffuse encephalopathy while the MRI scan disclosed several small areas of infarcts in the brain. Bilateral sensorineural hearing loss was confirmed on audiometry. The patient was diagnosed with Susac syndrome and treated with methylprednisolone and cyclophosphamide, resulting in slight improvement and stabilization. This case shows that Susac syndrome may be diagnosed late due to the absence at onset of one or more of the symptoms of the classic triad (encephalopathy, multiple branch retinal artery occlusions and hearing loss. This case also serves to emphasize that Susac syndrome should be considered in the differential diagnosis of central retinal artery occlusion, even in apparently healthy young men.

  12. Sensitivity of excision repair in normal human, xeroderma pigmentosum variant and Cockayne's syndrome fibroblasts to inhibition by cytosine arabinoside

    International Nuclear Information System (INIS)

    Inhibition of the gap-filling, polymerizing step of excision repair by 1-β-D-arabinofuranosylcytosine (ara-C) after irradiation with ultraviolet light in human diploid fibroblasts resulted in the formation of persistent DNA strand breaks in G1, G2, and plateau phase cells, but not in S phase cells. Addition of hydroxyurea to ara-C resulted in partial inhibition of repair in S phase cells. These observations can be explained either in terms of changing roles in repair for different DNA polymerases throughout the cell cycle or by the presence of a pool of deoxycytidine nucleotides during S phase equivalent to an external source of deoxycytidine at 50 μM concentration. A similar concentration dependence on ara-C was observed for inhibition of repair in normal human, xeroderma pigmentosum (XP) variant, and Cockayne's syndrome cells. Ara-C produced a similar number of breaks in normal and Cockayne's syndrome cells. Ara-C produced a similar number of breaks in normal and Cockayne's syndrome cells but slightly more in XP variant cells. Exonuclease III and S1 nuclease independently both degraded about 50% of the 3H-thymidine incorporated into repaired regions in the presence of ara-C. Sequential digestion with both enzymes degraded nearly 90% of the repaired regions. These observations can be explained if excision repair proceeds by displacing the damaged strand so that both the 3H-labeled patch and the damaged region are still ligated to high molecular weight DNA and compete for the same complementary strand during in vitro incubation with the nucleases. The amount of 3H-thymidine incorporated in DNA by repair decreased with increasing concentrations of ara-C and hydroxyurea, suggesting that the incomplete patches became shorter under these conditions. Extrapolation of the digestion kinetics with exonuclease III permits an estimate of the normal patch size of about 100 nucleotides, consistent with previous estimates

  13. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

    Science.gov (United States)

    Mlynarski, Elisabeth E.; Xie, Michael; Taylor, Deanne; Sheridan, Molly B.; Guo, Tingwei; Racedo, Silvia E.; McDonald-McGinn, Donna M.; Chow, Eva W. C.; Vorstman, Jacob; Swillen, Ann; Devriendt, Koen; Breckpot, Jeroen; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J.; Roberts, Amy E.; Piotrowicz, Małgorzata; Bearden, Carrie E.; Eliez, Stephan; Gothelf, Doron; Coleman, Karlene; Kates, Wendy R.; Devoto, Marcella; Zackai, Elaine; Heine-Suñer, Damian; Goldmuntz, Elizabeth; Bassett, Anne S.; Morrow, Bernice E.

    2016-01-01

    The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variable; approximately 60–75 % of 22q11DS patients have been reported to have a congenital heart defect (CHD), mostly of the conotruncal type, and/or aortic arch defect. The etiology of the cardiac phenotypic variability is not currently known for the majority of patients. We hypothesized that rare copy number variants (CNVs) outside the 22q11.2 deleted region may modify the risk of being born with a CHD in this sensitized population. Rare CNV analysis was performed using Affymetrix SNP Array 6.0 data from 946 22q11DS subjects with CHDs (n = 607) or with normal cardiac anatomy (n = 339). Although there was no significant difference in the overall burden of rare CNVs, an overabundance of CNVs affecting cardiac-related genes was detected in 22q11DS individuals with CHDs. When the rare CNVs were examined with regard to gene interactions, specific cardiac networks, such as Wnt signaling, appear to be overrepresented in 22q11DS CHD cases but not 22q11DS controls with a normal heart. Collectively, these data suggest that CNVs outside the 22q11.2 region may contain genes that modify risk for CHDs in some 22q11DS patients. PMID:26742502

  14. Superior mesenteric artery syndrome caused by surgery and radiation therapy for a brain tumor: A case report

    OpenAIRE

    Lei, Qiucheng; Wang, Xinying; Wu, Chao; Bi, Jingcheng; Zhang, Li

    2015-01-01

    Superior mesenteric artery syndrome (SMAS) is defined as an obstruction of the third part of duodenum due to compression by the superior mesenteric artery. Although traumatic brain injury is a risk factor for SMAS, few cases of SMAS resulting from brain surgery have been reported. SMAS has been observed to occur following neurosurgical surgery in pediatric patients but, to the best of our knowledge, no such cases have been reported in adults. The present study reports the case of a 21-year-ol...

  15. Bilateral Central Retinal Vein Occlusions Combined with Artery Occlusions in A Patient with Acquired Immune Deficiency Syndrome

    Institute of Scientific and Technical Information of China (English)

    Feng Wen; Xuemei Chen; Haitai Li; Ruiduan Liao; Dezheng Wu

    2002-01-01

    Purpose: This is the first report of a bilateral nonischemic central retinal vein occlusionscombined with artery occlusions in a patient with acquired immune deficiency syndrome(AIDS). Methods: Case report. Results: A 22-year-old Chinese(male) with a positive human immunodeficiency virus(HIV) infection developed bilateral nonischemic central retinal vein occlusions combinedwith artery occlusions and severe vision loss. The manifestations of the fundus andfluorescein angiography were similar in both eyes.Conclusion: This case report provides the evidences that central retinal vein and arteryocclusions are probably part of the spectrum of AIDS vascular diseases.

  16. Evaluation by multislice computed tomography of atherosclerotic coronary artery plaques in non-culprit, remote coronary arteries of patients with acute coronary syndrome

    International Nuclear Information System (INIS)

    Patients with acute coronary syndrome (ACS) frequently have vulnerable plaques in the remote coronary arteries, suggesting that ACS is part of the pan-coronary process. In the present study the computed tomography (CT) plaque density in non-culprit atherosclerotic coronary artery lesions was evaluated by multi-slice computed tomography (MSCT) in patients with ACS and non-ACS. MSCT was performed in 21 patients with ACS and 53 patients with non-ACS: 16 of the 21 ACS patients (76%) and 30 of the non-ACS 53 patients (57%) had non-calcified plaques in the non-culprit coronary arteries (p=0.18). CT-low-density plaques (CT density <68 Hounsfield units (HU)) were more frequent in the ACS group (13/16 patients, 81%) than in the non-ACS group (13/30 patients, 43%, p=0.03). In addition, the CT density of the non-culprit lesion was significantly lower in patients with ACS than in those with non-ACS (44.1±22.9 and 77.3±33.7 HU, respectively). Patients with ACS more frequently had CT-low-density plaques in the non-culprit, remote arteries than those with non-ACS, which suggests that ACS treatment should focus not only on stabilizing the culprit lesion but also on systemic stabilization of non-culprit lesions. (author)

  17. Effect of metabolic syndrome on prognosis and clinical characteristics of revascularization in patients with coronary artery disease

    Institute of Scientific and Technical Information of China (English)

    HU Rong; JIA Chang-qi; LIU Xin-min; DONG Jian-zeng; LIU Xiao-hui; CHEN Fang; ZHOU Yu-jie; L(U) Shu-zheng; WU Xue-si; MA Chang-sheng; NIE Shao-ping; L(U) Qiang; KANG Jun-ping; DU Xin; ZHANG Yin; GAO Ying-chun; HE Li-qun

    2006-01-01

    Background People with metabolic syndrome are at higher risk for developing coronary artery disease (CAD).The effect of the metabolic syndrome on outcomes in patients with preexisting CAD has not been well studied.This study was conducted to assess the prevalence, characteristics, in hospital and long term prognosis of CAD with metabolic syndrome and to determine the factors influencing the prognosis of the disease.Methods The DESIRE registry contains data of 3696 patients with CAD between 2001 and 2004. Mean long term followup was (829±373) days. Diagnosis of metabolic syndrome was based on modified International Diabetes Federation (IDF) Worldwide Definition of the Metabolic Syndrome, using body mass index (BMI)instead of waist circumference.Results Of 2596 patients with complete records of height, weight, and so on, 1280 (49.3%) were identified with metabolic syndrome. The patients with metabolic syndrome had higher level of body mass index, systolic blood pressure, diastolic blood pressure, fasting glucose and disordered blood lipid (all P<0.0001), with higher creatinine [(10.5±4.3) mg/L vs (9.9±2.9) mg/L, P<0.0001] and the number of white blood cells [(7.49±2.86)× 109/L vs (7.19 ± 2.62) × 109/L, P=0.008) compared with those without metabolic syndrome. The patients with metabolic syndrome showed severer coronary angiographic alterations (left main artery and/or ≥2-vessel)(73.6% vs 69.6%, P=0.031). There were no significant differences of major adverse cardiac and cerebral events(MACCE) or mortality in hospital between the two groups. During followup, the ratio of MACCE in CAD with metabolic syndrome patients increased significantly (11.8% vs 10.0%, P=0.044). Fasting blood glucose (≥ 1000mg/L) and triglyceride (TG, ≥ 1500 mg/L) were responsible for most of the increased risk associated with the metabolic syndrome (adjusted OR 1.465, 95% CI 1.037-1.874, P=0.032; OR 1.378, 95% CI 1.014-1.768,P=0.044).Conclusions The prevalence of metabolic

  18. Multidetector computed tomography angiography of the celiac trunk and hepatic arterial system: normal anatomy and main variants

    Energy Technology Data Exchange (ETDEWEB)

    Araujo-Neto, Severino Aires; Mello-Junior, Carlos Fernando de; Franca, Henrique Almeida; Duarte, Claudia Martina Araujo; Borges, Rafael Farias; Magalhaes, Ana Guardiana Ximenes de, E-mail: severinoaires@hotmail.com [Universidade Federal da Paraiba (UFPB), Joao Pessoa, PB (Brazil)

    2016-01-15

    Although digital angiography remains as the gold standard for imaging the celiac arterial trunk and hepatic arteries, multidetector computed tomography in association with digital images processing by software resources represents a useful tool particularly attractive for its non invasiveness. Knowledge of normal anatomy as well as of its variations is helpful in images interpretation and to address surgical planning on a case-by-case basis. The present essay illustrates several types of anatomical variations of celiac trunk, hepatic artery and its main branches, by means of digitally reconstructed computed tomography images, correlating their prevalence in the population with surgical implications. (author)

  19. Multidetector computed tomography angiography of the celiac trunk and hepatic arterial system: normal anatomy and main variants

    International Nuclear Information System (INIS)

    Although digital angiography remains as the gold standard for imaging the celiac arterial trunk and hepatic arteries, multidetector computed tomography in association with digital images processing by software resources represents a useful tool particularly attractive for its non invasiveness. Knowledge of normal anatomy as well as of its variations is helpful in images interpretation and to address surgical planning on a case-by-case basis. The present essay illustrates several types of anatomical variations of celiac trunk, hepatic artery and its main branches, by means of digitally reconstructed computed tomography images, correlating their prevalence in the population with surgical implications. (author)

  20. Effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness of female patients with metabolic syndrome

    OpenAIRE

    Kang, Seol-Jung; Kim,; Ko, Kwang-Jun

    2016-01-01

    [Purpose] The purpose of this study was to investigate the effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness or female patients with metabolic syndrome. [Subjects and Methods] Subjects were randomly assigned to an exercise group (n=12) or a control group (n=11). Subjects in the exercise group performed aerobic exercise at 60–80% of maximum heart rate for 40 min 5 times a week for 12 weeks. The changes in metabolic syndrome risk factors, resting he...

  1. Proliferation of pulmonary artery smooth muscle cells in the development of ascites syndrome in broilers induced by low ambient temperature.

    Science.gov (United States)

    Wang, J; Qiao, J; Zhao, L H; Li, K; Wang, H; Xu, T; Tian, Y; Gao, M; Wang, X

    2007-12-01

    Pulmonary vascular remodelling, mainly characterized by arterial medial thickening, is an important pathological feature of broiler ascites syndrome (AS). Since vascular smooth muscle cells (VSMC) form the major cellular component of arterial medial layer, we speculate that VSMC proliferation is one of the causes of pulmonary arterial medial thickening in ascitic broilers. Hence, the present study was designed to investigate the role of VSMC proliferation in pulmonary vascular remodelling in development of AS induced by low ambient temperature. Broilers in control group (22 +/- 1.5 degrees C) and low temperature group (11 +/- 2 degrees C) were sampled every week at 15-50 days of age. Proliferative indexes of VSMC in pulmonary arteries were assessed with proliferating cell nuclear antigen, and the relative medial thickness (RMT) and relative wall area (RWA), as indexes of pulmonary vascular remodelling, were examined by computer-image analysing system. The results showed that the high incidence (18.75%) of AS was induced by low temperature, and a significantly increased VSMC proliferation was observed in pulmonary arteries in the low temperature group at 22-50 days of age (P < 0.05). In addition, RMT and RWA in pulmonary arteries were significantly elevated in the low temperature group from 36 days of age (P < 0.05), indicating that pulmonary vascular remodelling occurred following VSMC proliferation in AS. Our data suggest that proliferation of VSMC may facilitate pulmonary vascular remodelling and have a pivotal role in AS induced by low ambient temperature. PMID:18045340

  2. The Coronary Artery Disease-associated Coding Variant in Zinc Finger C3HC-type Containing 1 (ZC3HC1) Affects Cell Cycle Regulation.

    Science.gov (United States)

    Jones, Peter D; Kaiser, Michael A; Ghaderi Najafabadi, Maryam; McVey, David G; Beveridge, Allan J; Schofield, Christine L; Samani, Nilesh J; Webb, Tom R

    2016-07-29

    Genome-wide association studies have to date identified multiple coronary artery disease (CAD)-associated loci; however, for most of these loci the mechanism by which they affect CAD risk is unclear. The CAD-associated locus 7q32.2 is unusual in that the lead variant, rs11556924, is not in strong linkage disequilibrium with any other variant and introduces a coding change in ZC3HC1, which encodes NIPA. In this study, we show that rs11556924 polymorphism is associated with lower regulatory phosphorylation of NIPA in the risk variant, resulting in NIPA with higher activity. Using a genome-editing approach we show that this causes an effective decrease in cyclin-B1 stability in the nucleus, thereby slowing its nuclear accumulation. By perturbing the rate of nuclear cyclin-B1 accumulation, rs11556924 alters the regulation of mitotic progression resulting in an extended mitosis. This study shows that the CAD-associated coding polymorphism in ZC3HC1 alters the dynamics of cell-cycle regulation by NIPA. PMID:27226629

  3. Persistent primitive trigeminal arteries (PTA) and its variant (PTAV): analysis of 103 cases detected in 16,415 cases of MRA over 3 years

    Energy Technology Data Exchange (ETDEWEB)

    O' uchi, Eri; O' uchi, Toshihiro [Kameda Medical Center, Department of Radiology, Kamogawa, Chiba (Japan)

    2010-12-15

    The primitive persistent trigeminal artery (PTA) is the most common carotid-basilar anastomosis, but because of its extremely low incidence, it is poorly understood. The purpose of this study is to clarify the features of PTA and its variants (PTAV) based on a large magnetic resonance angiography (MRA) series. MRA was performed on continuous 16,415 patients (8,610 males and 7,805 females) between October 2005 and September 2008 using two 1.5-T systems and one 1.0-T system. These all MRAs were evaluated by neuroradiologists. The incidence of both PTA and PTAV was 0.68% (48 cases of PTA, 50 cases of PTAV, and five unclassified). Among them, 65 cases originated from the left internal carotid artery and 38 from the right. There were 44 cases of lateral type PTA and four cases of medial type. Hypoplasia of the basilar artery proximal to the union of PTA was recognized as follows: no hypoplasia in 12 cases, moderate hypoplasia in 22 cases, and severe hypoplasia in 13 cases. Distance from SCA and the union was an average of 6.7 mm. Four cases of pre- and postoperative cerebral aneurysms were recognized in 103 cases (3.9%). We have identified details of both PTA/PTAV. The incidence of PTA was similar to previous studies, and the co-existence of cerebral aneurysm was also similar when compared to patients in the general population without PTA or PTAV. (orig.)

  4. Superior mesenteric artery syndrome following scoliosis surgery: Its risk indicators and treatment strategy

    Institute of Scientific and Technical Information of China (English)

    Ze-Zhang Zhu; Yong Qiu

    2005-01-01

    AIM: To investigate the risk indicators, pattern of clinical presentation and treatment strategy of superior mesenteric artery syndrome (SMAS) after scoliosis surgery.METHODS: From July 1997 to October 2003, 640 patients with adolescent scoliosis who had undergone surgical treatment were evaluated prospectively, and among them seven patients suffered from SMAS after operation. Each patient was assigned a percentile for weight and a percentile for height. Values of the 5th、 10th、 25th、 50th、 75th、 and 95thpercentiles were selected to divide the observations. The sagittal Cobb angle was used to quantify thoracic or thoracolumbar kyphosis. All the seven patients presented with nausea and intermittent vomiting about 5 d after operation.An upper gastrointestinal barium contrast study showed a straight-line cutoff at the third portion of the duodenum representing extrinsic compression by the superior mesenteric artery (SMA).RESULTS: The value of height in the seven patients with SMAS was above the mean of sex- and age-matchednormal population, and the height percentile ranged from 5% to 50%. On the contrary, the value of weight was below the mean of normal population with the weight percentile ranging from 5% to 25%. Among the seven patients, four had a thoracic hyperkyphosis ranging from 55° to 88°(average 72°), two had a thoracolumbar kyphosis of 25° and 32° respectively. The seven patients were treated with fasting, antiemetic medication, and intravenous fluids infusion. Reduction or suspense of traction was adopted in three patients with SMAS during halo-femoral traction after anterior release of scoliosis. All the patients recovered completely with no sequelae. No one required operative intervention with a laparotomy.CONCLUSION: Height percentile<50% , weight percentile <25%, sagittal kyphosis, heavy and quick halo-femoral traction after spinal anterior release are the potential risk indicators for SMAS in patients undergoing correction surgery

  5. NADPH oxidase 4 attenuates cerebral artery changes during the progression of Marfan syndrome.

    Science.gov (United States)

    Onetti, Yara; Meirelles, Thayna; Dantas, Ana P; Schröder, Katrin; Vila, Elisabet; Egea, Gustavo; Jiménez-Altayó, Francesc

    2016-05-01

    Marfan syndrome (MFS) is a connective tissue disorder that is often associated with the fibrillin-1 (Fbn1) gene mutation and characterized by cardiovascular alterations, predominantly ascending aortic aneurysms. Although neurovascular complications are uncommon in MFS, the improvement in Marfan patients' life expectancy is revealing other secondary alterations, potentially including neurovascular disorders. However, little is known about small-vessel pathophysiology in MFS. MFS is associated with hyperactivated transforming growth factor (TGF)-β signaling, which among numerous other downstream effectors, induces the NADPH oxidase 4 (Nox4) isoform of NADPH oxidase, a strong enzymatic source of H2O2 We hypothesized that MFS induces middle cerebral artery (MCA) alterations and that Nox4 contributes to them. MCA properties from 3-, 6-, or 9-mo-old Marfan (Fbn1(C1039G/+)) mice were compared with those from age/sex-matched wild-type littermates. At 6 mo, Marfan compared with wild-type mice developed higher MCA wall/lumen (wild-type: 0.081 ± 0.004; Marfan: 0.093 ± 0.002; 60 mmHg; P Marfan mice with Nox4 deficiency (Nox4(-/-)). Strikingly, Nox4 deletion in Marfan mice aggravated MCA wall thickening (cross-sectional area; Marfan: 6,660 ± 363 μm(2); Marfan Nox4(-/-): 8,795 ± 824 μm(2); 60 mmHg; P < 0.05), accompanied by decreased TGF-β expression and increased collagen deposition and Nox1 expression. These findings provide the first evidence that Nox4 mitigates cerebral artery structural changes in a murine model of MFS. PMID:26945079

  6. Is Early Onset Androgenic Alopecia a Marker of Metabolic Syndrome and Carotid Artery Atherosclerosis in Young Indian Male Patients?

    OpenAIRE

    Banger, Harmeet Singh; Malhotra, Suresh Kumar; Singh, Sohan; Mahajan, Mridula

    2015-01-01

    Background: Androgenic alopecia (AGA) is a common cosmetically and psychosocially distressing condition. High androgen level contributes to the development of atherosclerosis, thrombosis leading to hypertension and hypercholesterolemia. Objectives: To study the clinico-epidemiological profile of AGA and the presence of metabolic syndrome (MetS) and carotid artery atherosclerosis in male patients with early onset AGA as compared to controls. Materials and Methods: In this case-control study, 1...

  7. Aorto-Bilateral-Femoral-Bilateral-Popliteal Bypass for Leriche Syndrome With Occlusion of Both Superficial Femoral Arteries

    OpenAIRE

    Mitrev, Zan; Veljanovska, Lidija; HRISTOV, Nikola

    2009-01-01

    A 68-year-old man, who is a smoker with hypertension and hyperlipidemia, presented in our hospital with rest pain in both calves. His symptoms started 1 year prior with short distance walking pain in both legs. Preoperative work up discovered Leriche's syndrome with occlusion of both superficial femoral arteries, as shown on the 64-slice computerized tomographic scan (Fig 1). Operative treatment included aorto-bilateral femoral bypass, using 16/8 mm Dacron (Edwards Lifesciences, Irvine, CA) Y...

  8. A Case of Ischemic Duodenitis Associated with Superior Mesenteric Artery Syndrome Caused by an Abdominal Aortic Aneurysm

    OpenAIRE

    OKUYAMA, Yusuke; Kawakami, Takumi; Ito, Haruki; Otsuka, Hirotomo; Enoki, Yasuyuki; Nishimura, Masahito; Yoshida, Norimasa; Fujimoto, Sotaro

    2011-01-01

    A 74-year-old woman was admitted to our hospital with upper abdominal pain and bloody vomiting. An abdominal aneurysm compressed the third portion of the duodenum and the second portion of duodenum was distended with thickened walls as in superior mesenteric artery syndrome. Endoscopic examination showed an edematous mucosa with hemorrhagic erosions, shallow longitudinal ulcers, and star-shaped ulcers in the duodenum. We diagnosed this case as ischemic duodenitis associated with superior mese...

  9. A patient with non-ST-segment elevation acute coronary syndrome: Is it possible to predict the culprit coronary artery?

    Science.gov (United States)

    Lindow, Thomas; Pahlm, Olle; Nikus, Kjell

    2016-01-01

    In acute coronary syndromes without ST-segment elevation (NSTE-ACS), identification of the culprit artery is, most often, not possible. In this case report, we elaborate on the likelihood of different culprit arteries in a patient with NSTE-ACS. While her symptoms were progressing, typical ECG findings of ischemia in the left coronary territories were diminishing. Instead, dynamic T-wave changes in the inferior leads were present and were most likely postischemic and "reischemic." Although the culprit artery could not be identified with certainty by means of these subtle changes, they correlated well with the findings on angiography and the ECG recorded afterward. This case report demonstrates the importance of analyzing ECG and its temporal changes in conjunction with evolving symptoms. PMID:27212142

  10. Internal carotid artery dissection in a patient with Ehlers-Danlos syndrome type IV: diagnosis and management

    Directory of Open Access Journals (Sweden)

    Michel Nasser

    2013-06-01

    Full Text Available Ehlers-Danlos syndrome (EDS type IV, also known as vascular EDS, is an inherited connective tissue disorder with an estimated prevalence of 1/100,000 to 1/250,000. In EDS type IV, vascular complications may affect all anatomical areas, with a preference for large- and medium-sized arteries. Dissections of the vertebral and carotid arteries in their extra- and intra-cranial segments are typical. The authors report the case of a patient with EDS type IV for whom the diagnosis was established based on clinical signs and who developed internal carotid artery dissection at the age of 44 years. In the absence of a specific treatment for EDS type IV, medical interventions should focus on symptomatic relief, prophylactic measures, and genetic counseling. Invasive imaging techniques are contraindicated, and a conservative approach to vascular complications is usually recommended.

  11. Increased Contractile Response to Noradrenaline Induced By Factors Associated with the Metabolic Syndrome in Cultured Small Mesenteric Arteries

    DEFF Research Database (Denmark)

    Blædel, Martin; Sams, Anette; Boonen, Harrie C M; Sheykhzade, Majid

    UNLABELLED: This study investigated the effect of the metabolic syndrome associated risk factors hyperglycemia (glucose [Glc]), hyperinsulinemia (insulin [Ins]) and low-grade inflammation (tumor necrosis factor α [TNFα]) on the vasomotor responses of resistance arteries. Isolated small mesenteric...... arteries from 3-month-old Sprague-Dawley rats, were suspended for 21-23 h in tissue cultures containing either elevated Glc (30 mmol/l), Ins (100 nmol/l), TNFα (100 ng/ml) or combinations thereof. After incubation, the vascular response to noradrenaline (NA), phenylephrine, isoprenaline and NA in the...... presence of propranolol (10 µmol/l) was measured by wire myography. RESULTS: Arteries exposed only to combinations of the risk factors showed a significant 1.6-fold increase in the contractile NA sensitivity, which suggests that complex combinations of metabolic risk factors might lead to changes in...

  12. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

    Science.gov (United States)

    Yeetong, Patra; Vilboux, Thierry; Ciccone, Carla; Boulier, Kristin; Schnur, Rhonda E; Gahl, William A; Huizing, Marjan; Laje, Gonzalo; Smith, Ann C M

    2016-09-01

    We report a 25-year-old female confirmed to have Smith-Magenis syndrome (SMS) due to a de novo RAI1 variant. Her past history is significant for developmental and intellectual delay, early and escalating maladaptive behaviors, and features consistent with significant sleep disturbance, the etiology of which was not confirmed for over two decades. The diagnosis of SMS was initially suspected in 1998 (at age 12 years), but that was 5 years before the initial report of RAI1 variants as causative of the SMS phenotype; cytogenetic fluorescence in situ hybridization studies failed to confirm an interstitial deletion of 17p11.2. Re-evaluation for suspected SMS was pursued with RAI1 sequencing analysis in response to urgent parental concerns of escalating behaviors and aggression with subsequent incarceration of the subject for assault of a health professional. Genetic analysis revealed a de novo RAI1 (NM_030665.3) nonsense variant, c.5536C>T; p.Q1846X. This case illustrates the importance of confirming the SMS diagnosis, which is associated with cognitive and functional impairment, as well as significant psychiatric co-morbidities and behavioral problems. The diagnosis was particularly relevant to the legal discussion and determination of her competence to stand trial. As other similar cases may exist, this report will help to increase awareness of the possibility of a very late diagnosis of SMS, with the need for re-evaluation of individuals suspected to have SMS who were initially evaluated prior to the identification of the RAI1 gene. © 2016 Wiley Periodicals, Inc. PMID:27311559

  13. Successful endovascular treatment of a ruptured superior mesenteric artery in a patient with Ehlers‒Danlos syndrome.

    Science.gov (United States)

    Yasuda, Shota; Imoto, Kiyotaka; Uchida, Keiji; Machida, Daisuke; Yanagi, Hiromasa; Sugiura, Tadahisa; Kurosawa, Kenji; Masuda, Munetaka

    2013-10-01

    The purpose of this study was to describe covered-stent treatment of a ruptured dissection of the superior mesenteric artery (SMA) in a patient with Ehlers‒Danlos syndrome. The patient was a 13-year-old girl initially presenting with abdominal pain. Dissection and rupture of the SMA were diagnosed on detailed examination. Conservative treatment was performed initially because open surgery was considered high risk. However, the abdominal pain recurred, and we decided to perform endovascular therapy. A coronary artery covered stent was placed in the true lumen to close the entry site of the dissection. The false lumen was obliterated using a post-dilation technique, completing treatment of the rupture. The patient recovered uneventfully after surgery. Classic-type Ehlers‒Danlos syndrome was diagnosed on the basis of physical findings and genetic analysis. The stent has remained adequately patent as of 2 years after surgery. This case report shows that dissection and rupture of the SMA can be treated successfully using a covered coronary artery stent in a patient with Ehlers‒Danlos syndrome. PMID:23891251

  14. Positive association between increased popliteal artery vessel wall thickness and generalized osteoarthritis: is OA also part of the metabolic syndrome?

    International Nuclear Information System (INIS)

    The purpose of the study was to determine if a positive association exists between arterial vessel wall thickness and generalized osteoarthritis (OA). Our hypothesis is that generalized OA is another facet of the metabolic syndrome. The medical ethical review board of our institution approved the study. Written informed consent was obtained from each patient prior to the study. Magnetic resonance (MR) images of the knee were obtained in 42 patients who had been diagnosed with generalized OA at multiple joint sites. Another 27 MR images of the knee were obtained from a matched normal (non-OA) reference population. Vessel wall thickness of the popliteal artery was quantitatively measured by dedicated software. Linear regression models were used to investigate the association between vessel wall thickness and generalized OA. Adjustments were made for age, sex, and body mass index (BMI). Confidence intervals (CI) were computed at the 95% level and a significance level of α = 0.05 was used. Patients in the generalized OA population had a significant higher average vessel wall thickness than persons from the normal reference population (p ≤ α), even when correction was made for sex, age, and BMI. The average vessel wall thickness of the popliteal artery was 1.09 mm in patients with generalized OA, and 0.96 mm in the matched normal reference population. The association found between increased popliteal artery vessel wall thickness and generalized osteoarthritis suggests that generalized OA might be another facet of the metabolic syndrome. (orig.)

  15. Inflammation markers are associated with metabolic syndrome and ventricular arrhythmia in patients with coronary artery disease

    Directory of Open Access Journals (Sweden)

    Krzysztof Safranow

    2016-02-01

    Full Text Available Background: Inflammation plays a major role in the development and progression of atherosclerosis and coronary artery disease (CAD. Inflammation markers, including white blood cell (WBC count, C-reactive protein (CRP and interleukin-6 (IL-6, are widely used for cardiovascular risk prediction. The aim of the study was to establish factors associated with WBC, CRP and IL-6 in patients with CAD. Two functional polymorphisms in genes encoding enzymes participating in adenosine metabolism were analyzed (C34T AMPD1, G22A ADA. Methods: Plasma concentrations of IL-6 were measured using high-sensitivity ELISA kits, and the nephelometric method was used for high-sensitivity CRP (hs-CRP measurement in 167 CAD patients. Results: Presence of metabolic syndrome (MS and its components, presence of heart failure, severity of CAD symptoms, severe past ventricular arrhythmia (sustained ventricular tachycardia [sVT] or ventricular fibrillation [VF], lower left ventricle ejection fraction, higher left ventricle mass index, higher end-diastolic volume and higher number of smoking pack-years were significantly associated with higher WBC, CRP and IL-6. Strong associations with arrhythmia were observed for IL-6 (median 3.90 vs 1.89 pg/mL, p<0.00001 and CRP concentration (6.32 vs 1.47 mg/L, p=0.00009, while MS was associated most strongly with IL-6. CRP and IL-6 were independent markers discriminating patients with sVT or VF. There were no associations between AMPD1 or ADA genotypes and inflammation markers. Conclusions: WBC, CRP and IL-6 are strongly associated with components of the metabolic syndrome. Their strong association with life-threatening ventricular arrhythmia emphasizes the proarrhythmic role of inflammation in the increased cardiovascular risk of CAD patients.

  16. Propranolol Use in PHACE Syndrome with Cervical and Intracranial Arterial Anomalies: Collective Experience in 32 Infants

    Science.gov (United States)

    Metry, Denise; Frieden, Ilona J.; Hess, Christopher; Siegel, Dawn; Maheshwari, Mohit; Baselga, Eulalia; Chamlin, Sarah; Garzon, Maria; Mancini, Anthony J.; Powell, Julie; Drolet, Beth A.

    2016-01-01

    1. Objective Combine collective clinical experience using oral propranolol therapy in PHACE syndrome infants with cerebrovascular anomalies. 2. Design Retrospective study of patients evaluated between July 2008 and October 2011. 3. Setting Seven pediatric dermatology centers. 4. Patients 32 infants with definite PHACE syndrome and cervical and/or intracranial arterial anomalies. 5. Intervention Oral propranolol: average dose of 1.8 mg/kg/day divided t.i.d. or b.i.d., for an average duration of 12.3 months. 6. Main Outcome Measure Adverse neurologic events. 7. Results 7/32 (22%) patients were categorized as higher-risk for stroke, defined on MRA as severe, long-segment narrowing or non-visualization of major cerebral or cervical vessels without anatomic evidence for collateral circulation, often in the presence of concomitant cardiovascular comorbidities. Only 1 patient developed a change in neurologic status during propranolol treatment: a mild right hemiparesis that remained static and improved while propranolol was continued. An additional 3 patients had worsening hemangioma ulceration and/or tissue necrosis during therapy. 8. Conclusions This is the largest report thus far of PHACE patients treated with propranolol. While no catastrophic neurologic events occurred, serious complications, particularly severe ulcerations were seen in a minority of patients, and given the sample size we cannot negate the possibility that propranolol could augment the risk of stroke in this population. We continue to advise caution in using systemic beta-blockers, particularly for children with vascular anomalies at higher risk for stroke. Use of the lowest possible dosage, slow dosage titration, and t.i.d. dosing in order to minimize abrupt changes in blood pressure and close follow-up, including neurologic consultation as needed, are recommended. PMID:22994362

  17. Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

    Directory of Open Access Journals (Sweden)

    Yongyi Yuan

    Full Text Available BACKGROUND: Mutations in SLC26A4, which encodes pendrin, are a common cause of deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic enlarged vestibular aqueduct (EVA. The mutation spectrum of SLC26A4 varies widely among ethnic groups. To investigate the incidence of EVA in Chinese population and to provide appropriate genetic testing and counseling to patients with SLC26A4 variants, we conducted a large-scale molecular epidemiological survey of SLC26A4. METHODS: A total of 2352 unrelated non-syndromic hearing loss patients from 27 different regions of China were included. Hot spot regions of SLC26A4, exons 8, 10 and 19 were sequenced. For patients with one allelic variant in the hot spot regions, the other exons were sequenced one by one until two mutant alleles had been identified. Patients with SLC26A4 variants were then examined by temporal bone computed tomography scan for radiological diagnosis of EVA. Ten SLC26A4 variants were cloned for functional study. Confocal microscopy and radioisotope techniques were used to examine the membrane expression of pendrin and transporter function. RESULTS: Of the 86 types of variants found, 47 have never been reported. The ratio of EVA in the Chinese deaf population was at least 11%, and that in patients of Han ethnicity reached at least 13%. The mutational spectrum and mutation detection rate of SLC26A4 are distinct among both ethnicities and regions of Mainland China. Most of the variants caused retention of pendrin in the intracellular region. All the mutant pendrins showed significantly reduced transport capability. CONCLUSION: An overall description of the molecular epidemiological findings of SLC26A4 in China is provided. The functional assessment procedure can be applied to identification of pathogenicity of variants. These findings are valuable for genetic diagnosis, genetic counseling, prenatal testing and pre-implantation diagnosis in EVA families.

  18. Quadriceps myopathy: a variant of the limb-girdle dystrophy syndrome

    Science.gov (United States)

    Swash, M; Heathfield, Kwg

    1983-01-01

    The clinical and pathological features in a patient with quadriceps myopathy are presented. The pattern of progression of the disorder, during a period of 18 years observation, suggests that it represents an unusual and perhaps specific syndrome within the clinical spectrum of the limb-girdle muscular dystophies. Images PMID:6842250

  19. Quadriceps myopathy: a variant of the limb-girdle dystrophy syndrome

    OpenAIRE

    Swash, M.; Heathfield, Kwg

    1983-01-01

    The clinical and pathological features in a patient with quadriceps myopathy are presented. The pattern of progression of the disorder, during a period of 18 years observation, suggests that it represents an unusual and perhaps specific syndrome within the clinical spectrum of the limb-girdle muscular dystophies.

  20. Complete Genome Sequence of a Novel Highly Pathogenic Porcine Reproductive and Respiratory Syndrome Virus Variant

    OpenAIRE

    Wang, Lianghai; Hou, Jun; Zhang, Hexiao; Feng, Wen-hai

    2012-01-01

    Highly pathogenic porcine reproductive and respiratory syndrome (HP-PRRS) emerged in China in 2006, and HP-PRRS virus (HP-PRRSV) has evolved continuously. Here, the complete genomic sequence of a novel HP-PRRSV field strain, JX, is reported. The present finding will contribute to further studies focusing on the evolutionary mechanism of PRRSV.

  1. Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant.

    Science.gov (United States)

    Dinakar, Chitra; Lewin, S; Kumar, Karuna R; Harshad, Sujatha R

    2003-10-01

    A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. A diagnosis of Griscelli syndrome with unusual features of a Dandy Walker cyst and hypergammaglobulinemia, not previously described in literature, was made. The child was treated with supportive measures. PMID:14581742

  2. Functional characterization of MLH1 missense variants identified in Lynch Syndrome patients

    DEFF Research Database (Denmark)

    Andersen, Sofie Dabros; Liberti, Sascha Emilie; Lützen, Anne;

    2012-01-01

    Germline mutations in the human DNA mismatch repair (MMR) genes MSH2 and MLH1 are associated with the inherited cancer disorder Lynch Syndrome (LS), also known as Hereditary Nonpolyposis Colorectal Cancer or HNPCC. A proportion of MSH2 and MLH1 mutations found in suspected LS patients give rise to...

  3. Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome

    DEFF Research Database (Denmark)

    Drost, Mark; Lützen, Anne; van Hees, Sandrine;

    2013-01-01

    -negative phenotypes. Nearly half of these critical residues match with VUS previously identified in individuals suspected of Lynch syndrome. This aids in the assignment of pathogenicity to these human VUS and validates the approach described here as a diagnostic tool. In a wider perspective, this work provides a...

  4. Dextrocardia and corrected transposition of the great arteries (I,D,D) in a case of Kartagener's syndrome: a unique association.

    Science.gov (United States)

    Bitar, F F; Shbaro, R; Mroueh, S; Yunis, K; Obeid, M

    1998-04-01

    Kartagener's syndrome (KS) usually includes mirror-image dextrocardia. The incidence of congenital heart disease in KS is comparable with that in the general population. This paper reports on a case of Kartagener's syndrome associated with dextrocardia, corrected transposition of the great arteries (I,D,D), ventricular septal defect, and valvar pulmonary stenosis in an 8-year-old girl. PMID:9562943

  5. Veno-arterial extracorporeal membrane oxygenation for Streptococcus pyogenes toxic shock syndrome in pregnancy.

    Science.gov (United States)

    Imaeda, Taro; Nakada, Taka-Aki; Abe, Ryuzo; Tateishi, Yoshihisa; Oda, Shigeto

    2016-06-01

    Streptococcal toxic shock syndrome (STSS), an invasive Streptococcus pyogenes (Group A streptococcus) infection with hypotension and multiple organ failure, is quite rare in pregnancy but is characterized by rapid disease progression and high fatality rates. We present a case of STSS with infection-induced cardiac dysfunction in a pregnant woman who was treated with veno-arterial extracorporeal membrane oxygenation (VA-ECMO). A 24-year-old multiparous woman in the third trimester had early symptoms of high fever and diarrhea 1 day prior to admission to the hospital emergency department. On admission, she had multiple organ failure including circulatory failure. Due to fetal distress, emergency Cesarean section was carried out and transferred to intensive care units. She had refractory circulatory failure with depressed myocardial contractility with progressive multiple organ failure, despite receiving significant hemodynamic supports including high-dose catecholamine. Thus, VA-ECMO was initiated 18 h after intensive care unit admission. Consequently, ECMO provided extra time to recover from infection and myocardial depression. She was successfully weaned from VA-ECMO on day 7 and was discharged home on day 53. VA-ECMO can be a therapeutic option for refractory circulatory failure with significant myocardial depression in STSS. PMID:26758056

  6. Systemic thrombolysis in anterior spinal artery syndrome: what has to be considered?

    Science.gov (United States)

    Koch, Mia; Sepp, Dominik; Prothmann, Sascha; Poppert, Holger; Seifert, Christian L

    2016-04-01

    Anterior spinal artery syndrome (ASAS) often leads to complete motor paralysis with poor clinical outcome. There is a lack of controlled clinical trials on acute treatment strategies in ASAS. However, systemic thrombolysis with recombinant tissue-plasminogen activator (rt-PA) might be a useful therapeutic option in ASAS. We report the management of a patient with ASAS below thoracic level 10, who was treated with intravenous thrombolysis. An 81 year old patient presented with flaccid paraplegia. After exclusion of aortal dissection, spinal tumour or haemorrhage, the patient was treated with intravenous rt-PA 3 h 40 min after symptom onset. The follow up magnetic resonance imaging (MRI) showed spinal infarction below thoracic segment 10. In the clinical course, the patient partially recovered lower limb muscle strength and was able to walk with assistance. To the best of our knowledge, this is the first case in the literature of ASAS with MRI-proven spinal ischemia and the application of rt-PA. Systemic thrombolysis seems to be justifiable in patients with ASAS after the rule-out of aortal dissection and spinal bleeding. PMID:26386968

  7. Assessment of duodenal circular drainage in treatment of superior mesenteric artery syndrome

    Institute of Scientific and Technical Information of China (English)

    Wei-Liang Yang; Xin-Chen Zhang

    2008-01-01

    AIM: To assess the clinical value of duodenal circular drainage for superior mesenteric artery syndrome (SMAS).METHODS: Forty-seven cases of SMAS were treated with duodenal circular drainage from 1959 to 2001.Clinical data were analyzed retrospectively.RESULTS: In this group, good effects were achieved in 39 cases treated with duodenal circular drainage after 2-15 years of follow-up. The other eight cases were first treated with anterior repositioning of the duodenum (two cases), duodenojejunostomy (five cases), subtotal gastrectomy and billroth 11 gastrojejunostomy (one case), but vomiting was not relieved until duodenal circular drainage was performed again. A follow-up study of 8-10 years revealed satisfactory results in these eight patients.CONCLUSION: In SMAS, if the reversed peristalsis is strong and continuous, and vomiting occurs frequently,the symptom can not be relieved even if the obstruction of duodenum is removed surgically. The key treatment is the relief of reversed peristalsis. The duodenal circular drainage can resolve the drainage direction of duodenal content, thus relieving the symptom of vomiting.

  8. A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease

    NARCIS (Netherlands)

    Gretarsdottir, S.; Helgason, H.; Helgadottir, A.; Sigurdsson, A.; Thorleifsson, G.; Magnusdottir, A.; Oddsson, A.; Steinthorsdottir, V.; Rafnar, T.; Graaf, J. de; Daneshpour, M.S.; Hedayati, M.; Azizi, F.; Grarup, N.; Jorgensen, T.; Vestergaard, H.; Hansen, T.; Eyjolfsson, G.; Sigurdardottir, O.; Olafsson, I.; Kiemeney, B.; Pedersen, O.; Sulem, P.; Thorgeirsson, G.; Gudbjartsson, D.F.; Holm, H.; Thorsteinsdottir, U.; Stefansson, K.

    2015-01-01

    Through high coverage whole-genome sequencing and imputation of the identified variants into a large fraction of the Icelandic population, we found four independent signals in the low density lipoprotein receptor gene (LDLR) that associate with levels of non-high density lipoprotein cholesterol (non

  9. A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease

    DEFF Research Database (Denmark)

    Gretarsdottir, Solveig; Helgason, Hannes; Helgadottir, Anna;

    2015-01-01

    .7 × 10⁻⁸ and rs17248748-T, OR = 0.92 and Padj = 0.022). The LDLR splice region variant, rs72658867-A, located at position +5 in intron 14 (NM_000527:c.2140+5G>A), causes retention of intron 14 during transcription and is expected to produce a truncated LDL receptor lacking domains essential for function...

  10. Evaluation of coronary artery remodeling in patients with acute coronary syndrome and stable angina by multislice computed tomography

    International Nuclear Information System (INIS)

    Multislice computed tomography (MSCT) was used to evaluate coronary artery remodeling in patients with acute coronary syndrome (ACS) and stable angina (SA). MSCT was performed in 31 patients with ACS and 26 patients with SA and intravascular ultrasound (IVUS) was performed in 28 of these 57 patients. In both the MSCT and IVUS analyses, coronary artery remodeling was assessed by the remodeling index (RI): RI>1.10 was defined as positive coronary artery remodeling (PCAR) and RI<0.95 was defined as negative coronary artery remodeling (NCAR). The RI assessed by MSCT closely correlated with that of IVUS (r=0.86, n=28). The vessel area at the region of maximum luminal narrowing was also comparable between the MSCT and IVUS measurements (r=0.92). PCAR was present in 19 patients (61.3%) with ACS, but in none of the patients with SA (p<0.0001). However, NCAR was present in only 1 patient with ACS (3.2%), but was present in 18 patients (62.9%) with SA. The RI was significantly larger in patients with ACS (1.19±0.18) than in those with SA (0.89±0.10, p<0.0001). MSCT accurately assesses coronary artery remodeling. (author)

  11. Acute Respiratory Distress Syndrome diagnosis after coronary artery bypass: comparison between diagnostic criteria and clinical picture.

    Directory of Open Access Journals (Sweden)

    Manzar Vakili

    2015-01-01

    Full Text Available Acute Respiratory Distress Syndrome (ARDS is a potential complication of cardiac surgery, given that patients undergoing CABG frequently have hypoxemia and pulmonary dysfunction during initial hours after surgery. Thus, ARDS criteria in these patients are more likely to be positive while these criteria may not match the patient`s clinical picture. We aimed to investigate frequency of rapid onset hypoxemia in Pressure of Arterial Oxygen to Fractional Inspired Oxygen Concentration (PaO2/FiO2 less than 200 and diffuse pulmonary infiltrates as two diagnostic criteria forwards and compared these criteria with the clinical picture of the patients after Coronary Artery Bypass Graft (CABG in this study. The study was prospective case series which carried out in about six months. All patients admitted to intensive care unit of Tehran Heart Center, who had undergone CABG on cardiopulmonary pump (CPB recruited in the study. After considering inclusion criteria, age, sex, duration of intubation, arterial blood gas and chest radiography, on 24 hours and 48 hours after admission to the ICU were recorded. Then, patients with rapid onset of hypoxemia (PaO2/FiO2≤200mmHg and diffuse pulmonary infiltrates and without sign or symptoms of obvious heart failure (probable positive ARDS cases criteria were recorded and comparison between these probable positive cases with clinician`s clinical diagnosis (blinded to the study was performed. In this study, a total of 300 patients after on-pump coronary artery bypass surgery were included. Postoperatively, 2 (0.66 % in the 24 hours and 4 (1.33% patients in 48 hours after surgery were positive for the two ARDS criteria according to the checklists, but; nobody had saved persistently ARDS criteria persistently during 48 hours after surgery. At the same time, clinician did not report any case of ARDS among 300 patients. In this study patients with ARDS criteria had no significant differences in age (P.value=0.937 and sex (P

  12. Mitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome

    OpenAIRE

    Billing-Ross, Paul; Germain, Arnaud; Ye, Kaixiong; Keinan, Alon; Gu, Zhenglong; Hanson, Maureen R.

    2016-01-01

    Background Mitochondrial dysfunction has been hypothesized to occur in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a disease characterized by fatigue, cognitive difficulties, pain, malaise, and exercise intolerance. We investigated whether haplogroup, single nucleotide polymorphisms (SNPs), or heteroplasmy of mitochondrial DNA (mtDNA) were associated with health status and/or symptoms. Methods Illumina sequencing of PCR-amplified mtDNA was performed to analyze sequence and ex...

  13. MSX 1 gene variant and non-syndromic clefting: Association or rejection?

    OpenAIRE

    Naveen Admala Reddy; Adusumilli Gopinath; JayaprakashThirumala Reddy; Raghu Devanna; Pichai Saravanan; Rohra, Mayur G

    2014-01-01

    Context: Non-syndromic cleft lip/palate (NSCL/P) is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. Aims: The aim of this study is to amplify the chosen region (799 G >T) of MSX 1 gene, investigate the degree of association and perform a mutation research from Raichur cleft lip and palate patient sample. Settings and Design: Case history...

  14. Association of common variants of FTO in women with polycystic ovary syndrome

    OpenAIRE

    Xue, Hongxi; Zhao, Han; Zhao, Yueran; Liu, Xin; Chen, Zijiang; Ma, Jinlong

    2015-01-01

    Background: Polycystic ovary syndrome (PCOS) is a common and complex multisystemic genetic disease. Previous genome-wide association study (GWAS) of PCOS has found several potentially causative single nucleotide polymorphisms (SNPs) in Han Chinese population. The goal of present investigation was to assess the potential association between rs1121980, rs1421085, rs1558902, rs8050136 SNPs and PCOS. In order to make a better elucidation of this disease, further investigations of association betw...

  15. Arterial steal syndrom in patients after liver transplantation: transarterial embolization of the splenic and gastroduodenal arteries; Arterielles Steal-Syndrom bei Patienten nach Lebertransplantation: transarterielle Embolisation von A. lienalis oder A. gastroduodenalis

    Energy Technology Data Exchange (ETDEWEB)

    Vogl, Th.J.; Pegios, W.; Balzer, J.O.; Lobo, M. [Frankfurt Univ. (Germany). Inst. fuer Diagnostische und Interventionelle Radiologie; Neuhaus, P. [Klinik fuer Allgemeinchirurgie und Transplantationschirurgie Campus Charite, Virchow-Klinikum (Germany)

    2001-10-01

    Purpose: To evaluate transaterial embolization of splenohepatic and gastroduodenal steal syndrome in patients with impaired liver function tests after liver transplantation. Methods and Material: In a prospective study 22 patients (10 male, 12 female; mean age 49.5 years) with unexplained elevation of hepatic enzymes after liver transplantation underwent transcatheter arterial embolization of splenohepatic (n = 18) and gastroduodenal (n = 4) steal syndrome with use of Gianturco coils or microcoils. Liver and spleen parenchyma were surveyed and evaluated before and after embolization with plain helical CT, including volumetry of liver and spleen. Results: DSA examinations revealed a dilated splenic artery (n = 18) or gastroduodenal artery (n = 4) combined with a slightly decreased perfusion of the hepatic arteries, while immediately after successful embolization a normal perfusion of the hepatic arteries could be noted. Volumetric measurements before and after embolization showed no significant changes in liver parenchyma (x = + 7% {+-} 2), and variable changes in splenic volume of - 5% to + 28% (mean, + 11%), with initial measurements. Clinical follow-up examinations revealed a normalization of the previously elevated hepatic enzymes and a normalization of liver function tests after successful embolization. Complications were observed in 4 patients (infarction of the spleen). Conclusions: The preliminary results reveal that in liver transplant candidates with splenohepatic and gastroduodenal steal syndrome successful embolization results in an improvement of organ perfusion with normalization of function tests. (orig.) [German] Einleitung: Evaluierung der transarteriellen Embolisation von A. lienalis/A. gastroduodenalis-Steal-Syndromen bei Patienten mit erhoehten Laborparametern nach Lebertransplantation. Material und Methode: Im Rahmen einer prospektiven Studie wurden 22 Patienten (maennlich/weiblich: 12/10) mit aetiologisch unklarer Erhoehung der Leberenzyme nach

  16. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.

    Science.gov (United States)

    Gilbert-Dussardier, Brigitte; Briand-Suleau, Audrey; Laurendeau, Ingrid; Bilan, Frédéric; Cavé, Hélène; Verloes, Alain; Vidaud, Michel; Vidaud, Dominique; Pasmant, Eric

    2016-01-01

    RAS/MAPK pathway germline mutations were described in Rasopathies, a class of rare genetic syndromes combining facial abnormalities, heart defects, short stature, skin and genital abnormalities, and mental retardation. The majority of the mutations identified in the Rasopathies are point mutations which increase RAS/MAPK pathway signaling. Duplications encompassing RAS/MAPK pathway genes (PTPN11, RAF1, MEK2, or SHOC2) were more rarely described. Here we report, a syndromic familial case of a 12p duplication encompassing the dosage sensitive gene KRAS, whose phenotype overlapped with rasopathies. The patient was referred because of a history of mild learning disabilities, small size, facial dysmorphy, and pigmentation abnormalities (café-au-lait and achromic spots, and axillar lentigines). This phenotype was reminiscent of rasopathies. No mutation was identified in the most common genes associated with Noonan, cardio-facio-cutaneous, Legius, and Costello syndromes, as well as neurofibromatosis type 1. The patient constitutional DNA exhibited a ~10.5 Mb duplication at 12p, including the KRAS gene. The index case's mother carried the same chromosome abnormality and also showed development delay with short stature, and numerous café-au-lait spots. Duplication of the KRAS gene may participate in the propositus phenotype, in particular of the specific pigmentation abnormalities. Array-CGH or some other assessment of gene/exon CNVs of RAS/MAPK pathway genes should be considered in the evaluation of individuals with rasopathies. PMID:27450488

  17. Idiopathic gingival fibromatosis associated with progressive hearing loss: A nonfamilial variant of Jones syndrome

    Directory of Open Access Journals (Sweden)

    Bagavad Gita

    2014-01-01

    Full Text Available Gingival fibromatosis is characterized by gingival tissue overgrowth of a firm and fibrotic nature. The growth is slow and progressive and is drug-induced, idiopathic, or hereditary in etiology. It occurs isolated or frequently as a component of various syndromes. Our patient presented with the complaint of gingival enlargement associated with progressive deafness, characteristic of Jones syndrome. This case report is important and unique since it is the first known one to have a Jones syndrome-like presentation without a family history. A male patient aged 14 years reported with the chief complaint of swelling of gums and progressive hearing loss in both ears for the past one year. There was no family history or history of drug intake. Enlargement was generalized, fibrotic and bulbous, involving the free and attached gingiva, extending up to the middle 1/3 rd of the crown. Investigations such as pure tone audiogram, impedance audiometry, and Tone decay test concluded that there was severe right and moderate left sensorineural hearing loss. The case was diagnosed to be idiopathic, generalized gingival fibromatosis with progressive hearing loss. The gingival overgrowth was managed by gingivectomy and periodic review. The patient was advised to use high occlusion computer generated hearing aids for his deafness as it was not treatable by medicines or surgery. This unique case report once again emphasizes the heterogeneity of gingival fibromatosis, which can present in an atypical manner.

  18. The Effects of Metabolic Syndrome on Left Main Coronary Artery Stenosis in Coronary Angiograms of Patients: A Two Year Study

    Directory of Open Access Journals (Sweden)

    Panahi A

    2011-12-01

    Full Text Available Background: Left main coronary artery (LMCA stenosis is a leading cause of mortality and morbidity in many countries. Metabolic syndrome (MS is a risk factor for coronary artery disease (CAD. The effects of MS on left main coronary artery stenosis are not well-defined. The aim of this study was to examine the effects of MS on left main coronary artery stenosis.Methods: A total number of 495 patients who underwent elective coronary angiography in the Catheter Laboratory of Cardiovascular in Shariati Hospital 2008-2010 were included in the study. MS definition was based on the National Cholesterol Education Program (NCEP- Adult Treatment Panel III (ATP III criteria. The stenosis in left main coronary arteries was determined by examining the coronary angiograms of the patients.Results: The study population consisted of 249 (50.3% men, and 246 (49.7% women. The mean age of the participants was 58.01±10 years. MS was present in 86 (17.4% of the patients based on NCEP- ATP III criteria. LMCA stenosis was seen in 25 (5% patients. A positive correlation was found between MS and LMCA stenosis (r=0.305, P=0.012. Moreover, a positive correlation was found between age (r=0.192, P=0.05, sex (r=0.334, P=0.007, smoking (r=0.336, P=0.01 and diabetes (r=0.253, P=0.03 and LMCA stenosis.Conclusion: The metabolic syndrome correlates with LMCA stenosis. LMCA stenosis and its correlation with MS is precipitated by high FBG, age, male sex, and smoking which may synergistically increase the risk for the disease.

  19. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

    Science.gov (United States)

    Koolen, David A; Pfundt, Rolph; Linda, Katrin; Beunders, Gea; Veenstra-Knol, Hermine E; Conta, Jessie H; Fortuna, Ana Maria; Gillessen-Kaesbach, Gabriele; Dugan, Sarah; Halbach, Sara; Abdul-Rahman, Omar A; Winesett, Heather M; Chung, Wendy K; Dalton, Marguerite; Dimova, Petia S; Mattina, Teresa; Prescott, Katrina; Zhang, Hui Z; Saal, Howard M; Hehir-Kwa, Jayne Y; Willemsen, Marjolein H; Ockeloen, Charlotte W; Jongmans, Marjolijn C; Van der Aa, Nathalie; Failla, Pinella; Barone, Concetta; Avola, Emanuela; Brooks, Alice S; Kant, Sarina G; Gerkes, Erica H; Firth, Helen V; Õunap, Katrin; Bird, Lynne M; Masser-Frye, Diane; Friedman, Jennifer R; Sokunbi, Modupe A; Dixit, Abhijit; Splitt, Miranda; Kukolich, Mary K; McGaughran, Julie; Coe, Bradley P; Flórez, Jesús; Nadif Kasri, Nael; Brunner, Han G; Thompson, Elizabeth M; Gecz, Jozef; Romano, Corrado; Eichler, Evan E; de Vries, Bert Ba

    2016-05-01

    The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. The syndrome is caused by a truncating variant in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene or by a 17q21.31 microdeletion encompassing KANSL1. Herein we describe a novel cohort of 45 individuals with KdVS of whom 33 have a 17q21.31 microdeletion and 12 a single-nucleotide variant (SNV) in KANSL1 (19 males, 26 females; age range 7 months to 50 years). We provide guidance about the potential pitfalls in the laboratory testing and emphasise the challenges of KANSL1 variant calling and DNA copy number analysis in the complex 17q21.31 region. Moreover, we present detailed phenotypic information, including neuropsychological features, that contribute to the broad phenotypic spectrum of the syndrome. Comparison of the phenotype of both the microdeletion and SNV patients does not show differences of clinical importance, stressing that haploinsufficiency of KANSL1 is sufficient to cause the full KdVS phenotype. PMID:26306646

  20. Emerging antiplatelet therapy for coronary artery disease and acute coronary syndrome.

    Science.gov (United States)

    Packard, Kathleen A; Campbell, Jennifer A; Knezevich, Jon T; Davis, Estella M

    2012-03-01

    Antiplatelet therapy is used widely with proven benefit for the prevention of further ischemic cardiac complications in patients with known coronary artery disease (CAD) and a history of acute coronary syndrome (ACS). The limitations of conventional antiplatelet therapy with aspirin, clopidogrel, or prasugrel, as well as the fact that rates of recurrent ischemic events still remain high with use of these agents, underscore the need to investigate alternate agents that may further reduce event rates while limiting bleeding risk. The selection of antiplatelet therapy is further influenced by the following: ticagrelor was approved in July 2011 by the United States Food and Drug Administration (FDA), and clopidogrel is slated to become available as a generic productin 2012. We provide an overview of emerging agents for the treatment of CAD and ACS, including the reversible P2Y(12) antagonists ticagrelor, cangrelor, and elinogrel, and a new class of oral protease-activated receptor-1 (PAR-1) inhibitors, vorapaxar and atopaxar.The recently approved P2Y(12) antagonists prasugrel and ticagrelor demonstrate enhanced ability to prevent adverse cardiac outcomes. However, this comes at a cost of a potential increased risk of bleeding. New adverse effects have also emerged, including dyspnea for all of the reversible P2Y(12) antagonists (ticagrelor, cangrelor, and elinogrel) and ventricular pauses for ticagrelor. In addition, the newer P2Y(12) antagonists have a faster onset and offset. Two of these agents, cangrelor and elinogrel, are available as intravenous formulations, which may provide additional benefits in patients who undergo coronary artery bypass graft (CABG) surgery. Trials with the PAR-1 inhibitors have also shown trends toward reductions in cardiac events, but not without the possibility of increased bleeding. More than ever, as the arsenal of antiplatelet therapy expands, health care providers need to understand the pharmacologic and pharmacodynamic differences

  1. [Music as an uninvited guest: the auditive variant of the Charles Bonnet syndrome].

    Science.gov (United States)

    Tuerlings, J H A M; Wijnen, H; Boerman, R; Verwey, B

    2009-01-01

    Visually handicapped patients can be tormented by complex visual hallucinations (Charles Bonnet syndrome). Likewise, deaf patients and patients with impaired hearing can be plagued by auditory hallucinations, mostly involving music. Our article focuses on three female patients who suffered from musical hallucinations. In one of these patients the hallucinations ceased when her hearing was restored. In the second patient the hallucinations ceased when carbamazepine was prescribed. Quetiapine reduced the musical hallucinations in the third patient. The differential diagnoses and therapeutic options are discussed. PMID:19904711

  2. Acute occlusion of the left subclavian artery with artery dissection

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    @@ Subclavian steal syndrome is cerebral or brain stem ischemia resulting from diversion of blood flow from the basilar artery to the subclavian artery, which is caused by occlusive disease of either the subclavian artery or the innominate artery before they branch off at the vertebral artery. In the patients with subclavian steal syndrome the subclavian artery is fed by retrograde flow from the vertebral artery via the carotids and the circle of Willis.

  3. Brachial Artery Constriction during Brachial Artery Reactivity Testing Predicts Major Adverse Clinical Outcomes in Women with Suspected Myocardial Ischemia: Results from the NHLBI-Sponsored Women’s Ischemia Syndrome Evaluation (WISE) Study

    OpenAIRE

    Sedlak, Tara L.; Johnson, B. Delia; Pepine, Carl J.; Reis, Steven E.; Bairey Merz, C. Noel

    2013-01-01

    Background Limited brachial artery (BA) flow-mediated dilation during brachial artery reactivity testing (BART) has been linked to increased cardiovascular risk. We report on the phenomenon of BA constriction (BAC) following hyperemia. Objectives To determine whether BAC predicts adverse CV outcomes and/or mortality in the women’s ischemic Syndrome Evaluation Study (WISE). Further, as a secondary objective we sought to determine the risk factors associated with BAC. Methods We performed BART ...

  4. Allelic variants of ADH, ALDH and the five factor model of personality in alcohol dependence syndrome

    Directory of Open Access Journals (Sweden)

    S K Salujha

    2014-01-01

    Full Text Available Background: The etiology of alcohol dependence is a complex interplay of biopsychosocial factors. The genes for alcohol-metabolizing enzymes: Alcohol dehydrogenase (ADH2 and ADH3 and aldehyde dehydrogenase (ALDH2 exhibit functional polymorphisms. Vulnerability of alcohol dependence may also be in part due to heritable personality traits. Aim: To determine whether any association exists between polymorphisms of ADH2, ADH3 and ALDH2 and alcohol dependence syndrome in a group of Asian Indians. In addition, the personality of these patients was assessed to identify traits predisposing to alcoholism. Materials and Methods: In this study, 100 consecutive males with alcohol dependence syndrome attending the psychiatric outpatient department of a tertiary care service hospital and an equal number of matched healthy controls were included with their consent. Blood samples of all the study cases and controls were collected and genotyped for the ADH2, ADH3 and ALDH2 loci. Personality was evaluated using the neuroticism, extraversion, openness (NEO personality inventory and sensation seeking scale. Results: Allele frequencies of ADH2FNx012 (0.50, ADH3FNx011 (0.67 and ALSH2FNx012 (0.09 were significantly low in the alcohol dependent subjects. Personality traits of NEO personality inventory and sensation seeking were significantly higher when compared to controls. Conclusions: The functional polymorphisms of genes coding for alcohol metabolizing enzymes and personality traits of NEO and sensation seeking may affect the propensity to develop dependence.

  5. Prediction of cerebral hyperperfusion syndrome after carotid artery stenting by CT perfusion imaging with acetazolamide challenge

    Energy Technology Data Exchange (ETDEWEB)

    Yoshie, Tomohide; Ueda, Toshihiro; Takada, Tatsuro; Nogoshi, Shinji; Fukano, Takayuki [St. Marianna University Toyoko Hospital, Department of Strokology, Stroke Center, Kawasaki (Japan); Hasegawa, Yasuhiro [St. Marianna University School of Medicine, Department of Internal Medicine, Division of Neurology, Kawasaki (Japan)

    2016-03-15

    Cerebral hyperperfusion syndrome (HPS) is an uncommon but serious complication of carotid artery stenting (CAS). The purpose of this study was to investigate the efficacy of CT perfusion imaging (CTP) with acetazolamide challenge to identify patients at risk for HPS after CAS. We retrospectively analyzed 113 patients who underwent CTP with rest and acetazolamide challenge before CAS. CTP maps were assessed for absolute and relative cerebral blood flow (CBF), cerebral blood volume (CBV), mean transit time (MTT), and change of each parameter before and after acetazolamide challenge. Patients were divided into two groups according to the HPS after the CAS. Receiver-operating characteristic (ROC) curve analysis was performed to determine the most accurate CTP parameter for the prediction of HPS. Nine of 113 patients had HPS. There were significant differences for absolute and relative values of resting CBF (p = 0.001 and p = 0.026), resting MTT (p < 0.001 and p = 0.004), post-acetazolamide CBF (p < 0.001 and p = 0.001), post-acetazolamide MTT (p < 0.001 and p = 0.002), and %changes of CBF (p = 0.009) between the HPS and non-HPS groups. ROC curve analysis showed that the CTP parameters with the maximal area under the receiver-operating characteristic curve (AUC) for HPS was the absolute value of post-acetazolamide MTT (AUC 0.909) and the absolute value of resting MTT (AUC 0.896). Pretreatment CTP with acetazolamide challenge could identify patients at risk for HPS after CAS. Although the CTP parameter that most accurately identified patients at risk for HPS was the absolute value of post-acetazolamide MTT, resting MTT was sufficiently accurate. (orig.)

  6. Combination of Rare Right Arterial Variation with Anomalous Origins of the Vertebral Artery, Aberrant Subclavian Artery and Persistent Trigeminal Artery

    Science.gov (United States)

    Ishihara, H.; San Millán Ruíz, D.; Abdo, G.; Asakura, F.; Yilmaz, H.; Lovblad, K.O.; Rüfenacht, D.A.

    2011-01-01

    Summary A 32-year-old woman hospitalized for subarachnoid hemorrhage showed rare arterial variation on the right side with anomalous origins of the vertebral artery, aberrant subclavian artery and persistent trigeminal artery. Angiography showed the right vertebral artery to originate from the right common carotid artery, the right subclavian artery to arise separately from the descending aorta, and persistent trigeminal artery on the right side. The possible embryonic mechanism of this previously unreported variant combination is discussed. PMID:22005696

  7. Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: Increased expression of a CD44 variant isoform after chemotherapy

    International Nuclear Information System (INIS)

    Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome that is commonly associated with a germline mutation in the tumor suppressor gene p53. Loss of p53 results in increased expression of CD44, a cancer stem cell (CSC) marker, which is involved in the scavenging of reactive oxygen species (ROS). Here, we report a change in the expression of a CD44 variant isoform (CD44v8-10) in an 8-year-old female LFS patient with osteosarcoma and atypical liver cancer after chemotherapy. The patient visited a clinic with a chief complaint of chronic pain in a bruise on her right knee. Magnetic resonance imaging (MRI) raised the possibility of a bone malignancy. Biochemical testing also revealed significantly elevated levels of AFP, which strongly suggested the existence of a primary malignancy in the liver. MRI imaging showed the simultaneous development of osteosarcoma and liver cancer, both of which were confirmed upon biopsy. Combined therapy with surgical resection after chemotherapy was successful in this patient. Regardless of the absence of a familial history of hereditary cancer, a germline mutation in p53 was identified (a missense mutation defined as c.722 C>T, p.Ser241Phe). To better understand the cancer progression and response to treatment, immunohistochemical (IHC) analysis of biopsy specimens obtained before and after chemotherapy was performed using a specific antibody against CD44v8-10. This case demonstrates the ectopic up-regulation of CD44v8-10 in a biopsy sample obtained after cytotoxic chemotherapy, which confers high levels of oxidative stress on cancer cells. Because the alternative splicing of CD44 is tightly regulated epigenetically, it is possible that micro-environmental stress resulting from chemotherapy caused the ectopic induction of CD44v8-10 in vivo

  8. Operative and endovascular management of extracranial vertebral artery aneurysm in Ehlers-Danlos syndrome:a clinical dilemma--case report and literature review.

    LENUS (Irish Health Repository)

    Sultan, Sherif

    2002-01-01

    The most prevalent lesion of the vertebral artery is an atheromatous plaque located at its origin from the subclavian artery. A case of successful management of a symptomatic vertebral artery aneurysm due to Ehlers-Danlos syndrome is reported. The patient had asymptomatic posterior intracerebral artery dissection on the contralateral side. A common carotid artery to V-3 segment bypass using reversed saphenous vein graft was carried out. Avulsion of the V-2 segment occurred peroperatively and endovascular coil embolization of the vertebral artery aneurysm was performed. Endovascular equipment and training must be in the armamentarium of vascular surgeons as more complex cases are being treated, which demands new approaches for ultimate clinical success. This unique case outlines what might unexpectedly occur. Endovascular intervention as an adjuvant procedure provides a satisfactory outcome in what could have been a catastrophe.

  9. Scleroderma in a Patient on Capecitabine: Is this a Variant of Hand-Foot Syndrome?

    Science.gov (United States)

    Agarwal, Archana; Hellinger, James; Park, Dorothy J; Volkmann, Elizabeth

    2016-01-01

    Drug-induced scleroderma is a rare adverse effect of some chemotherapeutic drugs, such as taxanes and bleomycin. Capecitabine, an oral fluoropyrimidine approved for the treatment of metastatic breast and colon cancer, commonly causes cutaneous side effects including the hand-and-foot syndrome (HFS). Scleroderma-like skin changes associated with HFS associated with capecitabine is rare. However, diffuse scleroderma has never before been reported. We report a case of capecitabine-induced diffuse/systemic scleroderma in an 86-year-old female treated with capecitabine for metastatic colorectal cancer. She developed progressive skin and visceral sclerosis involving the lungs. We discuss the association between chemotherapy and scleroderma. We believe this is the first case of diffuse/systemic capecitabine-induced scleroderma without the presence of HFS. Early diagnosis is essential as fibrosis might be prevented in early stages. The capecitabine should be discontinued as early as possible. PMID:27493845

  10. Anomalies of left coronary artery origin affecting surgical repair of hypoplastic left heart syndrome and Shone complex.

    Science.gov (United States)

    Saroli, Tania; Gelehrter, Sarah; Gomez-Fifer, Carlen A; van der Velde, Mary E; Bove, Edward L; Ensing, Gregory J

    2008-08-01

    There has traditionally been less concern regarding coronary anomalies with left-sided congenital heart lesions such as hypoplastic left heart syndrome (HLHS)or Shone complex than with other lesions. However, coronary anomalies in this setting can profoundly affect surgical intervention, particularly when surgical repair involves the ascending aorta. We describe four patients with congenital left-sided heart lesions in which left coronary artery (LCA) anomalies substantially affected intervention and outcome. In the first two cases, the coronary anomalies were not identified prospectively and resulted in surgical injury directly to the coronary or to its surrounding region. In the latter two cases, successful identification of the coronary anomaly preoperatively allowed for modification of surgical technique and/or intervention. We conclude that detailed coronary artery assessment should be part of the routine echocardiographic evaluation of congenital left-sided heart lesions that require surgery. PMID:18445061

  11. Superior mesenteric artery syndrome caused by surgery and radiation therapy for a brain tumor: A case report

    Science.gov (United States)

    LEI, QIUCHENG; WANG, XINYING; WU, CHAO; BI, JINGCHENG; ZHANG, LI

    2015-01-01

    Superior mesenteric artery syndrome (SMAS) is defined as an obstruction of the third part of duodenum due to compression by the superior mesenteric artery. Although traumatic brain injury is a risk factor for SMAS, few cases of SMAS resulting from brain surgery have been reported. SMAS has been observed to occur following neurosurgical surgery in pediatric patients but, to the best of our knowledge, no such cases have been reported in adults. The present study reports the case of a 21-year-old female patient who developed SMAS after persistent vomiting and prolonged weight loss following cerebellar tumor resection and cranial irradiation. The SMAS was confirmed by computed tomography and resolved following successful nutritional management. PMID:26622529

  12. Differential dimerization of variants linked to enhanced S-Cone Sensitivity Syndrome (ESCS) located in the NR2E3 ligand-binding domain

    Science.gov (United States)

    von Alpen, Désirée; Tran, H. Viet; Guex, Nicolas; Venturini, Giulia; Munier, Francis L.; Schorderet, Daniel F.; Haider, Neena B.; Escher, Pascal

    2016-01-01

    NR2E3 encodes the photoreceptor-specific nuclear hormone receptor that acts as a repressor of cone-specific gene expression in rod photoreceptors, and as an activator of several rod-specific genes. Recessive variants located in the ligand-binding domain (LBD) of NR2E3 cause enhanced short wavelength sensitive- (S-) cone syndrome (ESCS), a retinal degeneration characterized by an excess of Scones and non-functional rods. We analyzed the dimerization properties of NR2E3 and the effect of disease-causing LBD missense variants by bioluminescence resonance energy transfer (BRET2) protein interaction assays. Homodimerization was not affected in presence of p.A256V, p.R039G, p.R311Q and p.R334G variants, but abolished in presence of p.L263P, p.L336P, p.L353V, p.R385P and p.M407K variants. Homology modeling predicted structural changes induced by NR2E3 LBD variants. NR2E3 LBD variants did not affect interaction with CRX, but with NRL and rev-erbα/NR1D1. CRX and NRL heterodimerized more efficiently together, than did either with NR2E3. NR2E3 did not heterodimerize with TLX/NR2E1 and RXRα/NR2C1. The identification of a new compound heterozygous patient with detectable rod function, who expressed solely the p.A256V variant protein, suggests a correlation between LBD variants able to form functional NR2E3 dimers and atypical mild forms of ESCS with residual rod function. PMID:25703721

  13. A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one

    DEFF Research Database (Denmark)

    Kantelinen, Jukka; Hansen, Thomas V O; Kansikas, Minttu;

    2011-01-01

    Inherited pathogenic mutations in the mismatch repair (MMR) genes, MSH2, MLH1, MSH6, and PMS2 predispose to Lynch syndrome (LS). However, the finding of a variant or variants of uncertain significance (VUS) in affected family members complicates the risk assessment. Here, we describe a putative L...... functionally assess all identified VUS before predictive gene testing and genetic counseling are offered to a family....... family carrying VUS in both MSH2 (c.2768T>A, p.Val923Glu) and MSH6 (c.3563G>A, p.Ser1188Asn). Two colorectal cancer (CRC) patients were studied for mutations and identified as carriers of both variants. In spite of a relatively high mean age of cancer onset (59.5 years) in the family, many CRC patients...

  14. A Herlyn-Werner-Wunderlich syndrome variant with ipsilateral renal absence and a contralateral duplex collecting system in a 26-year-old female.

    Science.gov (United States)

    Zhou, Yong; Fu, Xiujuan; Qian, Honglang; Lin, Kaiqing; Wang, Jinhua; Zhou, Shuyang; Hu, Xian; Jin, Hangmei

    2014-01-01

    Herlyn-Werner-Wunderlich syndrome (HWWS) is a müllerian duct anomaly typically associated with a uterus didelphys with two cervices and two vaginas, one of which is obstructed. A remarkable case of HWWS with contralateral duplex kidneys and duplication of ureters is described, which, to our knowledge, is a rarely reported variant to date. For this congenital anomaly, a strong suspicion and knowledge of HWWS are essential for a precise diagnosis. PMID:24481003

  15. Steal syndrome secondary to coronary artery fistulae associated with giant aneurysm

    OpenAIRE

    Castles, Anastasia Vlachadis; Mogilevski, Tamara; Asrar ul Haq, Muhammad

    2014-01-01

    Giant coronary artery aneurysms and coronary artery fistulae are uncommon pathologies. We present the case of an elderly woman who was referred to cardiology for investigation of possible ischaemic heart disease prior to orthopaedic surgery. The patient had developed chest pain in the setting of a septic total knee replacement associated with changes on electrocardiography. Coronary angiography revealed multiple coronary arteriovenous fistulae associated with giant coronary artery aneurysm ca...

  16. Arterial distensibility in adolescents: the influence of adiposity, the metabolic syndrome, and classic risk factors.

    OpenAIRE

    Whincup, P H; Gilg, J A; Donald, A E; Katterhorn, M.; Oliver, C.; Cook, D.G.; Deanfield, J E

    2005-01-01

    BACKGROUND: Atherosclerosis develops from childhood, but the determinants of this preclinical stage remain uncertain. We examined the relations of classic coronary risk factors, adiposity and its associated metabolic disturbances, to arterial distensibility (a marker of early arterial disease) in 13- to 15-year-olds, some of whom had previously been studied at ages 9 to 11 years. METHODS AND RESULTS: Brachial artery distensibility was measured by a noninvasive ultrasound technique in 471 Brit...

  17. Acute Fetal Anemia Diagnosed by Middle Cerebral Artery Doppler Velocimetry in Stage V Twin–Twin Transfusion Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Salcedo

    2011-12-01

    Full Text Available In stage V twin–twin transfusion syndrome (TTTS, up to 50% of surviving twins die or experience permanent disabilities, likely due to acute intertwin hemorrhage resulting in sudden severe anemia of the survivor. Although fetal middle cerebral artery (MCA Doppler studies demonstrate strong correlation with fetal hemoglobin values, acute hemorrhagic events are more difficult to diagnose, and optimal timing of delivery of the survivor poses an obstetric dilemma. We report a case of newly diagnosed stage V TTTS at 28 weeks gestation, complicated by acute severe anemia diagnosed by significantly abnormal fetal MCA Doppler studies. The anemic twin was urgently delivered and is doing well without significant sequelae.

  18. Is celiac artery compression syndrome genetically inherited?: A case series from a family and review of the literature

    International Nuclear Information System (INIS)

    The median arcuate ligament is a tendinous arch joining the two medial borders of the diaphragm crura together. In 13–50% of asymptomatic subjects it is responsible for significant angiographic celiac trunk compression. The significance of median arcuate ligament-associated celiac artery compression has been a source of some controversy in the past literature, and the etiology remains unclear. We report here a case series from a family that was diagnosed by the use of multidetector computed tomography. The observation of this syndrome in a family suggests that the responsible anatomic relationships are congenital and may be genetically inherited.

  19. Anesthetic management of right atrial mass removal and pulmonary artery thrombectomy in a patient with primary antiphospholipid antibody syndrome

    Directory of Open Access Journals (Sweden)

    Rawat SKS

    2010-01-01

    Full Text Available Antiphospholipid antibody syndrome (APLAS characterises a clinical condition of arterial and venous thrombosis associated with phospholipids directed antibodies. APLAS occurs in 2% of the general population. However, one study demonstrated that 7.1% of hospitalised patients were tested positive for at least one of the three anticardiolipin antibody idiotype. Antiphospholipid antibodies often inhibit phospholipids dependent coagulation in vitro and interfere with laboratory testing of hemostasis. Therefore, the management of anticoagulation during cardiopulmonary bypass can be quite challenging in these patients. Here, we present a case of right atrial mass removal and pulmonary thrombectomy in a patient of APLAS.

  20. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

    Science.gov (United States)

    Cafiero, Concetta; Marangi, Giuseppe; Orteschi, Daniela; Ali, Marwan; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, Vincenzo; Battaglia, Domenica; Mercuri, Eugenio; Slavotinek, Anne M; Zollino, Marcella

    2015-11-01

    MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability. We planned a search for causative gene variants in seven subjects with intellectual disability and overlapping dysmorphic facial features such as bulbous nasal tip, short mouth and straight eyebrows. We found two de novo frameshift variants in MED13L, consisting in single-nucleotide deletion (c.3765delC) and duplication (c.607dupT). A de novo nonsense variant (c.4420A>T) in MED13L was detected in a further subject in the course of routine whole-exome sequencing. By analyzing the clinical data of our patients along with those recently described in the literature, we confirm that there is a common, recognizable phenotype associated with MED13L haploinsufficiency, which includes intellectual disability and a distinctive facial appearance. Congenital heart diseases are found in some subjects with various degree of severity. Our observation of cleft palate, ataxia, epilepsy and childhood leukemia observed in single cases broadens the known clinical spectrum. Haploinsufficiency for MED13L should be considered in the differential diagnosis of the 1p36 microdeletion syndrome, due to overlapping dysmorphic facial features in some patients. The introduction of massive parallel-sequencing techniques into clinical practice is expected to allow for detection of other causative point variants in MED13L. Analysis of genomic data in connection with deep clinical evaluation of patients could elucidate genetic heterogeneity of the MED13L haploinsufficiency phenotype. PMID:25712080

  1. Histiocytoid Sweet Syndrome Is More Frequently Associated With Myelodysplastic Syndromes Than the Classical Neutrophilic Variant: A Comparative Series of 62 Patients.

    Science.gov (United States)

    Ghoufi, Lisa; Ortonne, Nicolas; Ingen-Housz-Oro, Saskia; Barhoumi, Walid; Begon, Edouard; Haioun, Corinne; Pautas, Cécile; Beckerich, Florence; Robin, Christine; Wolkenstein, Pierre; Cordonnier, Catherine; Chosidow, Olivier; Toma, Andréa

    2016-04-01

    Histiocytoid Sweet syndrome (H-SS) is a histological variant of Sweet syndrome (SS) differing from classical neutrophilic SS (N-SS) by a dermal infiltrate mainly composed of lymphocytes and histiocytoid myeloperoxidase-positive cells. We aimed to report a large series of H-SS and compare the frequency and type of hematological malignancies associated to H-SS and N-SS. We included 62 patients with a coding histopathologic diagnosis of SS prospectively registered between 2005 and 2014 in the database of our Department of Pathology. Overall, 22 (35.5%) and 40 (64.5%) patients had a histological diagnosis of H-SS and N-SS, respectively. Median age, sex ratio, and cutaneous lesions were similar in the 2 groups. The frequency of extra-cutaneous manifestations was similar (50% vs 37.5%, P = 0.42). Recurrent forms were significantly more frequent in H-SS than in N-SS patients (21% vs 2.5%, P = 0.01). A hematological malignancy was diagnosed in 22 patients, 12 (55.5%) with H-SS and 10 (25%) with N-SS (P = 0.019). Hematological malignancy was of myeloid origin in 8/22 (36.3%) H-SS and 5/40 (12.5%) N-SS patients (P = 0.02), and of lymphoid origin without myeloid component in 4/22 (18.1%) H-SS and 4/40 (10%) N-SS patients (P = 0.35), respectively. One N-SS patient had a hematological malignancy of mixed (myeloid and lymphoid) phenotype. A myelodysplastic syndrome (MDS) was diagnosed in 7/22 (31.8%) H-SS and 1/40 (2.5%) N-SS patients (P < 0.001). Hematological disease was diagnosed before (in 8 H-SS and 3 N-SS patients) or at the time of the occurrence of the cutaneous lesions (in 1 H-SS and 7 N-SS patients). However, in 3 H-SS patients, all with MDS, cutaneous lesions preceded the hematological disease by ≤6 months. In conclusion, H-SS was associated with MDS in one third of patients but also with lymphoid malignancies, and cutaneous lesions could precede the hematological diagnosis in patients with MDS. A complete hematological assessment is

  2. A common variant mapping to CACNA1A is associated with susceptibility to Exfoliation syndrome

    Science.gov (United States)

    Aung, Tin; Ozaki, Mineo; Mizoguchi, Takanori; Allingham, R Rand; Li, Zheng; Haripriya, Aravind; Nakano, Satoko; Uebe, Steffen; Harder, Jeffrey M.; Chan, Anita S.Y.; Lee, Mei Chin; Burdon, Kathryn P.; Astakhov, Yury S.; Abu-Amero, Khaled K.; Zenteno, Juan C.; Nilgün, Yildirim; Zarnowski, Tomasz; Pakravan, Mohammad; Safieh, Leen Abu; Jia, Liyun; Wang, Ya Xing; Williams, Susan; Paoli, Daniela; Schlottmann, Patricio G; Huang, Lulin; Sim, Kar Seng; Foo, Jia Nee; Nakano, Masakazu; Ikeda, Yoko; Kumar, Rajesh S; Ueno, Morio; Manabe, Shin-ichi; Hayashi, Ken; Kazama, Shigeyasu; Ideta, Ryuichi; Mori, Yosai; Miyata, Kazunori; Sugiyama, Kazuhisa; Higashide, Tomomi; Chihara, Etsuo; Inoue, Kenji; Ishiko, Satoshi; Yoshida, Akitoshi; Yanagi, Masahide; Kiuchi, Yoshiaki; Aihara, Makoto; Ohashi, Tsutomu; Sakurai, Toshiya; Sugimoto, Takako; Chuman, Hideki; Matsuda, Fumihiko; Yamashiro, Kenji; Gotoh, Norimoto; Miyake, Masahiro; Astakhov, Sergei Y.; Osman, Essam A.; Al-Obeidan, Saleh A.; Owaidhah, Ohoud; Al-Jasim, Leyla; Al Shahwan, Sami; Fogarty, Rhys A.; Leo, Paul; Yetkin, Yaz; Oğuz, Çilingir; Kanavi, Mozhgan Rezaei; Beni, Afsaneh Naderi; Yazdani, Shahin; Akopov, Evgeny L.; Toh, Kai-Yee; Howell, Gareth R; Orr, Andrew C.; Goh, Yufen; Meah, Wee Yang; Peh, Su Qin; Kosior-Jarecka, Ewa; Lukasik, Urszula; Krumbiegel, Mandy; Vithana, Eranga N; Wong, Tien Yin; Liu, Yutao; Ashley Koch, Allison E.; Challa, Pratap; Rautenbach, Robyn M; Mackey, David A.; Hewitt, Alex W; Mitchell, Paul; Wang, Jie Jin; Ziskind, Ari; Carmichael, Trevor; Ramakrishnan, Rangappa; Narendran, Kalpana; Venkatesh, Rangaraj; Vijayan, Saravanan; Zhao, Peiquan; Chen, Xueyi; Guadarrama-Vallejo, Dalia; Cheng, Ching Yu; Perera, Shamira A; Husain, Rahat; Ho, Su-Ling; Welge-Luessen, Ulrich-Christoph; Mardin, Christian; Schloetzer-Schrehardt, Ursula; Hillmer, Axel M.; Herms, Stefan; Moebus, Susanne; Nöthen, Markus M.; Weisschuh, Nicole; Shetty, Rohit; Ghosh, Arkasubhra; Teo, Yik Ying; Brown, Matthew A; Lischinsky, Ignacio; Crowston, Jonathan G; Coote, Michael; Zhao, Bowen; Sang, Jinghong; Zhang, Nihong; You, Qisheng; Vysochinskaya, Vera; Founti, Panayiota; Chatzikyriakidou, Anthoula; Lambropoulos, Alexandros; Anastasopoulos, Eleftherios; Coleman, Anne L; Wilson, M Roy; Rhee, Douglas J; Kang, Jae Hee; May-Bolchakova, Inna; Heegaard, Steffen; Mori, Kazuhiko; Alward, Wallace L.M.; Jonas, Jost B; Xu, Liang; Liebmann, Jeffrey M; Chowbay, Balram; Schaeffeler, Elke; Schwab, Matthias; Lerner, Fabian; Wang, Ningli; Yang, Zhenglin; Frezzotti, Paolo; Kinoshita, Shigeru; Fingert, John H.; Inatani, Masaru; Tashiro, Kei; Reis, André; Edward, Deepak P.; Pasquale, Louis R.; Kubota, Toshiaki; Wiggs, Janey L.; Pasutto, Francesca; Topouzis, Fotis; Dubina, Michael; Craig, Jamie E.; Yoshimura, Nagahisa; Sundaresan, Periasamy; John, Simon W.M.; Ritch, Robert; Hauser, Michael A; Khor, Chiea-Chuen

    2015-01-01

    Exfoliation syndrome (XFS) is the commonest recognizable cause of open angle glaucoma world-wide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) on 1,484 patients and 1,188 controls from Japan, and followed up the most significant findings on a further 6,901 patients and 20,727 controls from 17 countries across 6 continents. We discovered a significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (Odds ratio [OR] = 1.16, P = 3.36 × 10−11). Although overwhelming association at the LOXL1 locus was confirmed, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on ethnic grouping (In Japanese: ORA-allele= 9.87, P = 2.13 × 10−217; In non-Japanese: ORA-allele= 0.49, P = 2.35 × 10−31). Our findings represent the first genetic locus outside of LOXL1 which surpasses genome-wide significance for XFS, and provides insight into the biology and pathogenesis of the disease. PMID:25706626

  3. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

    Science.gov (United States)

    Aung, Tin; Ozaki, Mineo; Mizoguchi, Takanori; Allingham, R Rand; Li, Zheng; Haripriya, Aravind; Nakano, Satoko; Uebe, Steffen; Harder, Jeffrey M; Chan, Anita S Y; Lee, Mei Chin; Burdon, Kathryn P; Astakhov, Yury S; Abu-Amero, Khaled K; Zenteno, Juan C; Nilgün, Yildirim; Zarnowski, Tomasz; Pakravan, Mohammad; Safieh, Leen Abu; Jia, Liyun; Wang, Ya Xing; Williams, Susan; Paoli, Daniela; Schlottmann, Patricio G; Huang, Lulin; Sim, Kar Seng; Foo, Jia Nee; Nakano, Masakazu; Ikeda, Yoko; Kumar, Rajesh S; Ueno, Morio; Manabe, Shin-ichi; Hayashi, Ken; Kazama, Shigeyasu; Ideta, Ryuichi; Mori, Yosai; Miyata, Kazunori; Sugiyama, Kazuhisa; Higashide, Tomomi; Chihara, Etsuo; Inoue, Kenji; Ishiko, Satoshi; Yoshida, Akitoshi; Yanagi, Masahide; Kiuchi, Yoshiaki; Aihara, Makoto; Ohashi, Tsutomu; Sakurai, Toshiya; Sugimoto, Takako; Chuman, Hideki; Matsuda, Fumihiko; Yamashiro, Kenji; Gotoh, Norimoto; Miyake, Masahiro; Astakhov, Sergei Y; Osman, Essam A; Al-Obeidan, Saleh A; Owaidhah, Ohoud; Al-Jasim, Leyla; Al Shahwan, Sami; Fogarty, Rhys A; Leo, Paul; Yetkin, Yaz; Oğuz, Çilingir; Kanavi, Mozhgan Rezaei; Beni, Afsaneh Nederi; Yazdani, Shahin; Akopov, Evgeny L; Toh, Kai-Yee; Howell, Gareth R; Orr, Andrew C; Goh, Yufen; Meah, Wee Yang; Peh, Su Qin; Kosior-Jarecka, Ewa; Lukasik, Urszula; Krumbiegel, Mandy; Vithana, Eranga N; Wong, Tien Yin; Liu, Yutao; Koch, Allison E Ashley; Challa, Pratap; Rautenbach, Robyn M; Mackey, David A; Hewitt, Alex W; Mitchell, Paul; Wang, Jie Jin; Ziskind, Ari; Carmichael, Trevor; Ramakrishnan, Rangappa; Narendran, Kalpana; Venkatesh, Rangaraj; Vijayan, Saravanan; Zhao, Peiquan; Chen, Xueyi; Guadarrama-Vallejo, Dalia; Cheng, Ching Yu; Perera, Shamira A; Husain, Rahat; Ho, Su-Ling; Welge-Luessen, Ulrich-Christoph; Mardin, Christian; Schloetzer-Schrehardt, Ursula; Hillmer, Axel M; Herms, Stefan; Moebus, Susanne; Nöthen, Markus M; Weisschuh, Nicole; Shetty, Rohit; Ghosh, Arkasubhra; Teo, Yik Ying; Brown, Matthew A; Lischinsky, Ignacio; Crowston, Jonathan G; Coote, Michael; Zhao, Bowen; Sang, Jinghong; Zhang, Nihong; You, Qisheng; Vysochinskaya, Vera; Founti, Panayiota; Chatzikyriakidou, Anthoula; Lambropoulos, Alexandros; Anastasopoulos, Eleftherios; Coleman, Anne L; Wilson, M Roy; Rhee, Douglas J; Kang, Jae Hee; May-Bolchakova, Inna; Heegaard, Steffen; Mori, Kazuhiko; Alward, Wallace L M; Jonas, Jost B; Xu, Liang; Liebmann, Jeffrey M; Chowbay, Balram; Schaeffeler, Elke; Schwab, Matthias; Lerner, Fabian; Wang, Ningli; Yang, Zhenglin; Frezzotti, Paolo; Kinoshita, Shigeru; Fingert, John H; Inatani, Masaru; Tashiro, Kei; Reis, André; Edward, Deepak P; Pasquale, Louis R; Kubota, Toshiaki; Wiggs, Janey L; Pasutto, Francesca; Topouzis, Fotis; Dubina, Michael; Craig, Jamie E; Yoshimura, Nagahisa; Sundaresan, Periasamy; John, Simon W M; Ritch, Robert; Hauser, Michael A; Khor, Chiea-Chuen

    2015-04-01

    Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease. PMID:25706626

  4. Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7

    Directory of Open Access Journals (Sweden)

    Estacion Mark

    2011-12-01

    Full Text Available Abstract Background Sodium channel NaV1.7 is preferentially expressed within dorsal root ganglia (DRG, trigeminal ganglia and sympathetic ganglion neurons and their fine-diamter axons, where it acts as a threshold channel, amplifying stimuli such as generator potentials in nociceptors. Gain-of-function mutations and variants (single amino acid substitutions of NaV1.7 have been linked to three pain syndromes: Inherited Erythromelalgia (IEM, Paroxysmal Extreme Pain Disorder (PEPD, and Small Fiber Neuropathy (SFN. IEM is characterized clinically by burning pain and redness that is usually focused on the distal extremities, precipitated by mild warmth and relieved by cooling, and is caused by mutations that hyperpolarize activation, slow deactivation, and enhance the channel ramp response. PEPD is characterized by perirectal, periocular or perimandibular pain, often triggered by defecation or lower body stimulation, and is caused by mutations that severely impair fast-inactivation. SFN presents a clinical picture dominated by neuropathic pain and autonomic symptoms; gain-of-function variants have been reported to be present in approximately 30% of patients with biopsy-confirmed idiopathic SFN, and functional testing has shown altered fast-inactivation, slow-inactivation or resurgent current. In this paper we describe three patients who house the NaV1.7/I228M variant. Methods We have used clinical assessment of patients, quantitative sensory testing and skin biopsy to study these patients, including two siblings in one family, in whom genomic screening demonstrated the I228M NaV1.7 variant. Electrophysiology (voltage-clamp and current-clamp was used to test functional effects of the variant channel. Results We report three different clinical presentations of the I228M NaV1.7 variant: presentation with severe facial pain, presentation with distal (feet, hands pain, and presentation with scalp discomfort in three patients housing this NaV1.7 variant

  5. Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis.

    Science.gov (United States)

    Fan, Bao J; Pasquale, Louis R; Kang, Jae H; Levkovitch-Verbin, Hani; Haines, Jonathan L; Wiggs, Janey L

    2015-10-01

    Exfoliation syndrome (XFS) is an important risk factor for glaucoma (XFG) worldwide. LOXL1 variants are highly associated with XFS in most populations; however, the high frequency of risk alleles in normal individuals and the reversal of risk alleles in different ethnic populations suggest that other factors contribute to XFS pathogenesis. Clusterin (CLU) is an extracellular matrix chaperone that prevents protein aggregation and is highly expressed in ocular tissues affected by XFS. Studies examining common CLU variants for association with XFS have been inconsistent. The purpose of this study was to evaluate CLU variants for association with XFS in two independent datasets from the United States (222 cases and 344 controls) and Israel (92 cases and 102 controls). Seven tag SNPs that captured >95% of alleles at r(2) greater than 0.8 across the CLU genomic region were genotyped using TaqMan assays. Genotypes for an additional SNP, rs2279590, were imputed using phased haplotypes of HapMap reference CEU samples. Of the 8 CLU SNPs selected for the study, none were significantly associated with XFS in either case-control group (age and sex adjusted P > 0.14 and 0.36, respectively, in the US and Israeli datasets), or when they were meta-analyzed together (age and sex adjusted P > 0.13). Haplotype analysis using all 8 SNPs or only the promoter region SNPs also did not show significant associations of CLU with XFS in the combined US and Israeli dataset (P > 0.28). Meta-analysis of the data from this study and previous studies in Caucasian populations (1184 cases and 978 controls) resulted in statistically significant association of rs2279590 with XFS (summary OR = 1.18, 95% CI: 1.03-1.33, P = 0.01). Significant association between rs2279590 and XFS was also found in Indian populations (summary OR = 0.76, 95% CI: 0.61-0.96; P = 0.02); however, significant heterogeneity between the Caucasian and Indian populations possibly due to reversal of the risk allele

  6. Spontaneous coronary artery dissection in men presenting with acute coronary syndrome, successfully managed by intravascular ultrasound-guided percutaneous coronary intervention

    OpenAIRE

    Thomas, Bethan Nia; Aslam, Sajid; Cullen, James; Anantharaman, Rajaram

    2014-01-01

    Spontaneous coronary artery dissection is a rare cause of acute coronary syndrome. It is most commonly seen in young women, without atherosclerosis, in the peripartum period. Management options include conservative medical treatment, percutaneous coronary intervention or a surgical approach depending on the presentation, extent of dissection and luminal stenosis. We describe three unusual cases of spontaneous coronary artery dissection occurring in young/middle-aged men—the first in associati...

  7. Relationship between uric acid and arterial stiffness in the elderly with metabolic syndrome components

    Institute of Scientific and Technical Information of China (English)

    SUN Ning; ZHANG Yun; TIAN Jian-li; WANG Hui

    2013-01-01

    Background High uric acid (UA) levels and metabolic syndrome (MS) are risk factors for atherosclerotic diseases.Brachial-ankle pulse wave velocity (baPWV) is a valid and reproducible measurement by which to assess arterial stiffness and a surrogate marker of atherosclerosis.However,little is known about the relationship between them,especially in elderly Chinese with MS components who are at high risk for atherosclerotic diseases.Methods One thousand and twenty Chinese subjects (159 women) older than 60 years of age (mean age (70.6±5.7)years) with at least one MS component underwent routine laboratory tests,and baPWV measurements were analyzed.Results Participants were divided into four groups by MS components.The mean age did not significantly differ among the MS component groups.We found that not only the diagnostic factors (blood pressure,body mass index (BMI),lipids,glucose) of MS but also baPWV,UA,insulin,homeostasis model of assessment for insulin resistence index (HOMAIR) levels increased,and high density lipoprotein (HDL)-C decreased with an increased number of MS components (test for trend P<0.05).The association between UA and baPWV was observed after adjustment for gender,age,blood pressure,BMI,serum creatinine and high density lipoprotein,and insulin resistance (r=0.186,P<0.0001).There were increases in the odds ratios for the association between the number of components of MS,UA and baPWV,even after adjustment for traditional risk factors.However,after adjustment for insulin or HOMA-IR,there were no significant differences in the multivariate odds ratios among the number of MS components for UA.Conclusions The UA level is positively associated with baPWV and MS,but the association between UA and MS is dependent on insulin resistance.Furthermore,baPWV is independently associated with MS in our study population.

  8. [Cognitive dysfunction following anterior communicating artery aneurysm rupture. Comparison with alcoholic Korsakoff syndrome on neuropsychological performance].

    Science.gov (United States)

    Mimura, M; Kato, M; Yoshimasu, H; Kashima, H

    1995-08-01

    The present study aims to compare neuropsychological performance of patients following anterior communicating artery aneurysm rupture (ACoA) with that of patients with alcoholic Korsakoff syndrome (AKS). Fifteen ACoA patients and ten age-and education-matched AKS patients were included in the study. All the patients were tested at least one year post onset of their illness at a stable condition. The WAIS and forward digit span scores of AKS were also matched to ACoA, and simple attention and general intelligence were well preserved both in ACoA and AKS. Frontal function as measured by the Wisconsin card sorting test (Keio version) (KWCST) was equivalently impaired in the two groups. Anterograde memory as measured by Wechsler memory scale subtests, serial seven word learning test, Rey auditory verbal learning test, and logical memorizing test (Luria's paired word-picture association), was more severely impaired in AKS than ACoA in contrast to the comparable attention, intelligence, and frontal function: (1) memory tasks with low correlations to KWCST (serial word learning tasks and paired verbal associates), reflecting primary simple serial memorizing, and (2) memory tasks with high correlations to KWCST (logical memory and logical memorizing), reflecting higher and complicated strategic mnemonic activities. However, the correlations between these anterograde memory subtests and KWCST were substantially equivalent in ACoA and AKS. This suggests that the differences in anterograde amnesia demonstrated in ACoA and AKS may be of quantitative, not of qualitative property. The extent of deficits in semantic encoding as measured by Wickens' release from proactive interference paradigm (PI release) was also milder in ACoA than AKS. Both AKS and ACoA failed to show PI release in contrast to normal PI release demonstrated in age-matched ten healthy subjects. PI release in ACoA, however, was in between AKS and healthy subjects. The results were interpreted in the light of a

  9. Maternal TLR4 and NOD2 gene variants, pro-inflammatory phenotype and susceptibility to early-onset preeclampsia and HELLP syndrome.

    Directory of Open Access Journals (Sweden)

    Bas B van Rijn

    Full Text Available BACKGROUND: Altered maternal inflammatory responses play a role in the development of preeclampsia and the hemolysis, elevated liver enzymes and low platelets (HELLP syndrome. We examined whether allelic variants of the innate immune receptors Toll-like receptor 4 (TLR4 and nucleotide-binding oligomerization domain 2 (NOD2, that impair the inflammatory response to endotoxin, are related to preeclampsia and HELLP syndrome. METHODS AND FINDINGS: We determined five common mutations in TLR4 (D299G and T399I and NOD2 (R702W, G908R and L1007fs in 340 primiparous women with a history of early-onset preeclampsia, of whom 177 women developed HELLP syndrome and in 113 women with a history of only uneventful pregnancies as controls. In addition, we assessed plasma levels of pro-inflammatory biomarkers C-reactive protein, interleukin-6, soluble intercellular adhesion molecule-1, fibrinogen and von Willebrand factor in a subset of 214 women included at least six months after delivery. After adjustment for maternal age and chronic hypertension, attenuating allelic variants of TLR4 were more common in women with a history of early-onset preeclampsia than in controls (OR 2.9 [95% CI 1.2-6.7]. Highest frequencies for TLR4 variants were observed in women who developed HELLP syndrome (adjusted OR 4.1 [95% CI 1.7-9.8]. In addition, high levels of interleukin-6 and fibrinogen were associated with a history of early-onset preeclampsia. Combined positivity for any of the TLR4 and NOD2 allelic variants and high levels of interleukin-6 was 6.9-fold more common in women with a history of early-onset preeclampsia (95% CI 2.1-23.2 compared to controls. CONCLUSIONS: We observed an association of common TLR4 and NOD2 gene variants, and pro-inflammatory phenotype with a history of early-onset preeclampsia and HELLP syndrome. These findings suggest involvement of the maternal innate immune system in severe hypertensive disorders of pregnancy.

  10. Corticotropin-Releasing Hormone Receptor 2 Gene Variants in Irritable Bowel Syndrome.

    Directory of Open Access Journals (Sweden)

    Hazuki Komuro

    Full Text Available Corticotropin-releasing hormone (CRH plays an important role in the pathophysiology of irritable bowel syndrome (IBS and regulates the stress response through two CRH receptors (R1 and R2. Previously, we reported that a CRHR1 gene polymorphism (rs110402, rs242924, and rs7209436 and haplotypes were associated with IBS. However, the association between the CRHR2 gene and IBS was not investigated. We tested the hypothesis that genetic polymorphisms and haplotypes of CRHR2 are associated with IBS pathophysiology and negative emotion in IBS patients.A total of 142 IBS patients and 142 healthy controls participated in this study. Seven single nucleotide polymorphisms (SNPs of the CRHR2 gene (rs4722999, rs3779250, rs2240403, rs2267710, rs2190242, rs2284217, and rs2284220 were genotyped. Subjects' psychological states were evaluated using the Perceived-Stress Scale, the State-Trait Anxiety Inventory, and the Self-Rating Depression Scale.We found that rs4722999 and rs3779250, located in intronic region, were associated with IBS in terms of genotype frequency (rs4722999: P = 0.037; rs3779250: P = 0.017 and that the distribution of the major allele was significantly different between patients and controls. There was a significant group effect (controls vs. IBS, and a CRHR2 genotype effect was observed for three psychological scores, but the interaction was not significant. We found a haplotype of four SNPs (rs4722999, rs3779250, rs2240403, and rs2267710 and two SNPs (rs2284217 and rs2284220 in strong linkage disequilibrium (D' > 0.90. We also found that haplotypes of the CRHR2 gene were significantly different between IBS patients and controls and that they were associated with negative emotion.Our findings support the hypothesis that genetic polymorphisms and haplotypes of CRHR2 are related to IBS. In addition, we found associations between CRHR2 genotypes and haplotypes and negative emotion in IBS patients and controls. Further studies on IBS and the CRH

  11. Hybrid repair of ruptured type B aortic dissection extending into an aberrant right subclavian artery in a patient with Turner's syndrome.

    Science.gov (United States)

    Hamidian-Jahromi, Alireza; Carroll, Jonathan D; Doucet, Linda D; Zhang, Wayne W

    2013-11-01

    Turner's syndrome (TS) has been documented as the most common cause of aortic dissection in young women. However, little attention from vascular surgery has been paid to these patients. We report the first case of ruptured type B aortic dissection with aberrant right subclavian artery treated successfully with hybrid endovascular and open procedures in a patient with TS. Left carotid to subclavian artery bypass, thoracic endovascular aortic repair, and coil embolization of the aberrant right subclavian and left subclavian arteries were performed in an emergency setting. Literature on epidemiology, causes, and management options of acute aortic dissection in TS patients are reviewed and discussed. PMID:24011806

  12. Abnormal course of the vertebral artery at the craniovertebral junction in patients with Down syndrome visualized by three-dimensional CT angiography

    International Nuclear Information System (INIS)

    We determined the incidence of vertebral artery (VA) anomalies at the craniovertebral junction (CVJ) in patients with Down syndrome, and characterized the VA anomalies. The course of the VA in 46 consecutive patients who were due to undergo posterior arthrodesis surgery at the CVJ were evaluated by three-dimensional CT angiography (3DCTA). Included were five patients with Down syndrome who suffered from myelopathy due to atlantoaxial subluxation. All five patients with Down syndrome also had a simultaneous congenital skeletal anomaly, either os odontoideum or ossiculum terminale. Of the five patients with Down syndrome, three had VA anomalies at the CVJ, two had fenestration and one had a persistent first intersegmental artery. Of the other 41 patients without Down syndrome, five had VA anomalies at the CVJ. The incidence of VA anomalies at the CVJ was much higher in patients with Down syndrome than in those without Down syndrome. In planning surgery in patients with Down syndrome with symptomatic atlantoaxial subluxation and a congenital skeletal anomaly at the CVJ, we should consider the possible presence of VA anomalies. Preoperative 3DCTA allows us to precisely identify an anomalous VA and evaluate the possible risk of intraoperative VA injury in advance. (orig.)

  13. Discovery of potential new gene variants and inflammatory cytokine associations with fibromyalgia syndrome by whole exome sequencing.

    Directory of Open Access Journals (Sweden)

    Jinong Feng

    Full Text Available Fibromyalgia syndrome (FMS is a chronic musculoskeletal pain disorder affecting 2% to 5% of the general population. Both genetic and environmental factors may be involved. To ascertain in an unbiased manner which genes play a role in the disorder, we performed complete exome sequencing on a subset of FMS patients. Out of 150 nuclear families (trios DNA from 19 probands was subjected to complete exome sequencing. Since >80,000 SNPs were found per proband, the data were further filtered, including analysis of those with stop codons, a rare frequency (<2.5% in the 1000 Genomes database, and presence in at least 2/19 probands sequenced. Two nonsense mutations, W32X in C11orf40 and Q100X in ZNF77 among 150 FMS trios had a significantly elevated frequency of transmission to affected probands (p = 0.026 and p = 0.032, respectively and were present in a subset of 13% and 11% of FMS patients, respectively. Among 9 patients bearing more than one of the variants we have described, 4 had onset of symptoms between the ages of 10 and 18. The subset with the C11orf40 mutation had elevated plasma levels of the inflammatory cytokines, MCP-1 and IP-10, compared with unaffected controls or FMS patients with the wild-type allele. Similarly, patients with the ZNF77 mutation have elevated levels of the inflammatory cytokine, IL-12, compared with controls or patients with the wild type allele. Our results strongly implicate an inflammatory basis for FMS, as well as specific cytokine dysregulation, in at least 35% of our FMS cohort.

  14. Bilateral Common Carotid Artery Occlusion in Spontaneously Hypertensive Rats: A Feasible Animal Model for Ocular Ischemic Syndrome.

    Science.gov (United States)

    Wang, Yacong; Fan, Yuhua; Zhang, Lihong; Wang, Yi-Xiang J; Qi, Wei; Liang, Willmann; Wang, Chunmei; T W Yew, David; Ye, Cunxi; Sha, Ou

    2016-06-01

    The purpose of this study was to investigate the feasibility of inducing ocular ischemic syndrome in spontaneously hypertensive rats. Hypertensive and normotensive Wistar-Kyoto rats had bilateral occlusion or sham surgery. They were divided into 4 groups: (1) hypertensive-ischemia, (2) hypertensive-sham, (3) normotensive-ischemia, and (4) normotensive-sham. Four months after the operation, the global changes of the eye and pupillary light reflex were assessed. Then each rat was perfused, and randomly one of the bulbuses oculi was prepared as retinal flat mounts for investigation of vascular changes. The opposite eyeball was prepared as a paraffin section for observation of the linear density of retinal ganglion cells and for thickness measurement. One hypertensive-ischemia rat had a cataract in one eye and another rat in the same group had bulbus oculi collapse in one eye. The light reflex disappeared in 13.33% of hypertensive-ischemia rats, and the rest of the hypertensive-ischemia rats and normotensive-ischemia rats had slow reflex. Compared with the respective controls, the peripheral retinal vascular network in hypertensive-ischemia and normotensive-ischemia rats was sparse; linear density of the retinal ganglion cells was significantly reduced; and the retinal thickness was reduced. Compared with normotensive-ischemia rats, the hypertensive-ischemia rats demonstrated more severe changes. After bilateral common carotic artery occlusion, the eyes of hypertensive rats developed various pathological changes similar to those of ocular ischemic syndrome. In conclusion, an animal model for ocular ischemic syndrome can be created by bilateral common carotid artery occlusion in spontaneously hypertensive rats. Anat Rec, 299:806-814, 2016. © 2016 Wiley Periodicals, Inc. PMID:26917224

  15. Sick-sinus syndrome due to a congenital coronary arterial fistula

    International Nuclear Information System (INIS)

    An observation of a patient of 41 years old with congenital coronary arterial fistula is presented. Perfused scintiscanning with 201Tl and radionuclide ventriculography with 99mTc are used for diagnosis of disturbance in heart rhythm

  16. Flash pulmonary edema in patients with renal artery stenosis--the Pickering Syndrome

    DEFF Research Database (Denmark)

    Pelta, Anna; Andersen, Ulrik B; Just, Sven;

    2010-01-01

    We report the prevalence of flash pulmonary edema in patients consecutively referred for balloon angioplasty of uni- or bilateral renal artery stenosis (PTRA), and describe the characteristics of this special fraction of the patients. We further report two unusual cases.......We report the prevalence of flash pulmonary edema in patients consecutively referred for balloon angioplasty of uni- or bilateral renal artery stenosis (PTRA), and describe the characteristics of this special fraction of the patients. We further report two unusual cases....

  17. Clinical evaluation of 99Tcm-MIBI myocardial perfusion imaging for the detection of coronary artery disease in patients with metabolic syndrome

    International Nuclear Information System (INIS)

    Objective: Metabolic syndrome is a combination of medical disorders that consist of a collection of independent factors at risk of developing coronary artery disease. The purpose of this study was to evaluate the value of 99Tcm-methoxyisobutylisonitrile (MIBI) myocardial perfusion imaging for the diagnosis of coronary artery disease in patients with metabolic syndrome. Methods: A total of 251 patients [mean age (59 ± 10) years, 179 men, 72 women] were included in this study. All patients underwent exercise and rest 99Tcm-MIBI myocardial perfusion imaging and coronary angiography. Results: Of the 163 patients with significant coronary artery stenosis, 116 showed abnormal 99Tcm-MIBI myocardial perfusion imaging; and among the 88 patients with normal coronary angiography, 82 showed normal myocardial perfusion imaging. The sensitivity, specificity and accuracy of 99Tcm-MIBI myocardial perfusion imaging for coronary artery disease detection were 71% (116/163), 93% (82/88) and 79% (198/251), respectively. The positive and negative predictive values were 95% (116/122) and 64% (82/129), respectively. Conclusion: 99Tcm-MIBI myocardial perfusion imaging has important clinical value for detecting coronary artery disease in patients with metabolic syndrome. (authors)

  18. Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.

    Directory of Open Access Journals (Sweden)

    Eva A L Wielders

    Full Text Available Lynch syndrome confers an increased risk to various types of cancer, in particular early onset colorectal and endometrial cancer. Mutations in mismatch repair (MMR genes underlie Lynch syndrome, with the majority of mutations found in MLH1 and MSH2. Mutations in MSH6 have also been found but these do not always cause a clear cancer predisposition phenotype and MSH6-defective tumors often do not show the standard characteristics of MMR deficiency, such as microsatellite instability. In particular, the consequences of MSH6 missense mutations are challenging to predict, which further complicates genetic counseling. We have previously developed a method for functional characterization of MSH2 missense mutations of unknown significance. This method is based on endogenous gene modification in mouse embryonic stem cells using oligonucleotide-directed gene targeting, followed by a series of functional assays addressing the MMR functions. Here we have adapted this method for the characterization of MSH6 missense mutations. We recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095H and MSH6-L1354Q, and found all three to behave like wild type MSH6. Thus, despite suspicion for pathogenicity from clinical observations, our approach indicates these variants are not disease causing. This has important implications for counseling of mutation carriers.

  19. High absolute risks and predictors of venous and arterial thromboembolic events in patients with nephrotic syndrome: results from a large retrospective cohort study.

    NARCIS (Netherlands)

    Mahmoodi, B.K.; Kate, M.K. ten; Waanders, F.; Veeger, N.J.; Brouwer, J.L.; Vogt, L.; Navis, G.; Meer, J.W.M. van der

    2008-01-01

    BACKGROUND: No data are available on the absolute risk of either venous thromboembolism (VTE) or arterial thromboembolism (ATE) in patients with nephrotic syndrome. Reported risks are based on multiple case reports and small studies with mostly short-term follow-up. We assessed the absolute risk of

  20. Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

    Science.gov (United States)

    Jang, Mi Ae; Lee, Chang Woo; Kim, Jin Kyung; Ki, Chang Seok

    2015-11-01

    Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family with CdLS carrying a novel pathogenic variant of the SMC1A gene identified by exome sequencing. The proband was a 3-yr-old boy presenting with a developmental delay. He had distinctive facial features without major structural anomalies and tested negative for the NIPBL gene. His younger sister, mother, and maternal grandmother presented with mild mental retardation. By exome sequencing of the proband, a novel SMC1A variant, c.3178G>A, was identified, which was expected to cause an amino acid substitution (p.Glu1060Lys) in the highly conserved coiled-coil domain of the SMC1A protein. Sanger sequencing confirmed that the three female relatives with mental retardation also carry this variant. Our results reveal that SMC1A gene defects are associated with milder phenotypes of CdLS. Furthermore, we showed that exome sequencing could be a useful tool to identify pathogenic variants in patients with CdLS. PMID:26354354

  1. Midterm results of left coronary artery reimplantation through the transverse sinus of the pericardium in adult Bland-White-Garland syndrome.

    Science.gov (United States)

    Kataoka, Go; Nakano, Kiyoharu; Asano, Ryota; Sato, Atsuhiko; Kodera, Kojiro; Tatsuishi, Wataru; Sudo, Shinji

    2015-12-01

    The anomalous origin of the left coronary artery from the pulmonary artery - known as Bland-White-Garland syndrome - is a rare congenital malformation that affects 1 in 300,000 live births. Most patients die in infancy without any surgical treatment. Some patients who survive past childhood often have varying symptoms such as myocardial ischemia, impaired left ventricular function, mitral regurgitation, and progressive heart failure, depending on the development collateral circulation. In the present report, we describe a procedure wherein the left coronary artery ostium was translocated through the transverse sinus of the pericardium in a 43-year-old mother with Bland-White-Garland syndrome and concomitant mitral regurgitation and report on the associated midterm results. PMID:26943392

  2. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

    Science.gov (United States)

    Schönewolf-Greulich, B; Tejada, M-I; Stephens, K; Hadzsiev, K; Gauthier, J; Brøndum-Nielsen, K; Pfundt, R; Ravn, K; Maortua, H; Gener, B; Martínez-Bouzas, C; Piton, A; Rouleau, G; Clayton-Smith, J; Kleefstra, T; Bisgaard, A-M; Tümer, Z

    2016-06-01

    Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues. PMID:26936630

  3. Dusart Syndrome in a Scandinavian family characterized by arterial and venous thrombosis at young age

    DEFF Research Database (Denmark)

    Ramanathan, Ramshanker; Gram, Jørgen; Feddersen, Søren;

    2013-01-01

    BACKGROUND: Dysfibrinogenemia is a rare group of qualitative fibrinogen disorders caused by structural abnormalities in the fibrinogen molecule. The laboratory diagnosis of dysfibrinogenemia is controversial. Fibrinogen Paris V, clinically termed Dusart Syndrome, is a dysfibrinogenemia caused by a...

  4. YKL-40 a new biomarker in patients with acute coronary syndrome or stable coronary artery disease

    DEFF Research Database (Denmark)

    Wang, Y.Z.; Ripa, R.S.; Johansen, J.S.; Gabrielsen, A.; Steinbruchel, D.A.; Friis, Jørn Torp; Bindslev, L.; Haack-Sorensen, M.; Jørgensen, Erik; Kastrup, J.

    2008-01-01

    Background. YKL-40 is involved in remodelling and angiogenesis in non-cardiac inflammatory diseases. Aim was to quantitate plasma YKL-40 in patients with ST-elevation myocardial infarction (STEMI) or stable chronic coronary artery disease (CAD), and YKL-40 gene activation in human myocardium....... Methods and results. We included 73 patients: I) 20 patients with STEMI; II) 28 patients with stable CAD; III) 15 CAD patients referred for coronary by-pass surgery. YKL-40 mRNA expression was measured in myocardium subtended by stenotic or occluded arteries and areas with no apparent disease; and IV) 10...

  5. Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing

    OpenAIRE

    Jang, Mi-Ae; Lee, Chang-Woo; Kim, Jin-Kyung; Ki, Chang-Seok

    2015-01-01

    Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family with CdLS carrying a novel pathogenic variant of the SMC1A gene identified by exome sequencing. The proband was a 3-yr-old boy presenting with a developmental delay. He had distinctive facial features without major structural anomalies and tested negative for the NIPBL gene. His younger sister, moth...

  6. Arterial Tortuosity Syndrome reveals function of dehydroascorbic acid in collagen and elastin synthesis: Implications for skin care.

    Science.gov (United States)

    Kitt, Douglas Q

    2016-02-01

    Some investigations in Arterial Tortuosity Syndrome (ATS) suggest that impaired intracellular transport of the oxidized form of vitamin C (dehydroascorbic acid, DHAA) is at the core of the pathogenesis. Lack of vitamin C for lysyl- and prolyl-hydroxylase activity may explain the defects in collagen and elastin formation found in ATS, and draws strong parallels between ATS and scurvy. Topically applied vitamin C has a well-established basis in the field of skin care, and part of its benefit is attributed to proper collagen formation in the skin. The ATS studies suggest that DHAA transport is necessary for normal skin collagen formation, and this has implications as to the forms of vitamin C best-suited for topical skin care. PMID:26826631

  7. Increased vulnerability of human ventricle to re-entrant excitation in hERG-linked variant 1 short QT syndrome.

    Directory of Open Access Journals (Sweden)

    Ismail Adeniran

    2011-12-01

    Full Text Available The short QT syndrome (SQTS is a genetically heterogeneous condition characterized by abbreviated QT intervals and an increased susceptibility to arrhythmia and sudden death. This simulation study identifies arrhythmogenic mechanisms in the rapid-delayed rectifier K(+ current (I(Kr-linked SQT1 variant of the SQTS. Markov chain (MC models were found to be superior to Hodgkin-Huxley (HH models in reproducing experimental data regarding effects of the N588K mutation on KCNH2-encoded hERG. These ionic channel models were then incorporated into human ventricular action potential (AP models and into 1D and 2D idealised and realistic transmural ventricular tissue simulations and into a 3D anatomical model. In single cell models, the N588K mutation abbreviated ventricular cell AP duration at 90% repolarization (APD(90 and decreased the maximal transmural voltage heterogeneity (δV during APs. This resulted in decreased transmural heterogeneity of APD(90 and of the effective refractory period (ERP: effects that are anticipated to be anti-arrhythmic rather than pro-arrhythmic. However, with consideration of transmural heterogeneity of I(Kr density in the intact tissue model based on the ten Tusscher-Noble-Noble-Panfilov ventricular model, not only did the N588K mutation lead to QT-shortening and increases in T-wave amplitude, but δV was found to be augmented in some local regions of ventricle tissue, resulting in increased tissue vulnerability for uni-directional conduction block and predisposing to formation of re-entrant excitation waves. In 2D and 3D tissue models, the N588K mutation facilitated and maintained re-entrant excitation waves due to the reduced substrate size necessary for sustaining re-entry. Thus, in SQT1 the N588K-hERG mutation facilitates initiation and maintenance of ventricular re-entry, increasing the lifespan of re-entrant spiral waves and the stability of scroll waves in 3D tissue.

  8. Genome-wide association analysis and replication of coronary artery disease in South Korea suggests a causal variant common to diverse populations

    Science.gov (United States)

    Cho, Eun Young; Jang, Yangsoo; Shin, Eun Soon; Jang, Hye Yoon; Yoo, Yeon-Kyeong; Kim, Sook; Jang, Ji Hyun; Lee, Ji Yeon; Yun, Min Hye; Park, Min Young; Chae, Jey Sook; Lim, Jin Woo; Shin, Dong Jik; Park, Sungha; Lee, Jong Ho; Han, Bok Ghee; Rae, Kim Hyung; Cardon, Lon R; Morris, Andrew P; Lee, Jong Eun; Clarke, Geraldine M

    2010-01-01

    Background Recent genome-wide association (GWA) studies have identified and replicated several genetic loci associated with the risk of development of coronary artery disease (CAD) in samples from populations of Caucasian and Asian descent. However, only chromosome 9p21 has been confirmed as a major susceptibility locus conferring risk for development of CAD across multiple ethnic groups. The authors aimed to find evidence of further similarities and differences in genetic risk of CAD between Korean and other populations. Methods The authors performed a GWA study comprising 230 cases and 290 controls from a Korean population typed on 490 032 single nucleotide polymorphisms (SNPs). A total of 3148 SNPs were taken forward for genotyping in a subsequent replication study using an independent sample of 1172 cases and 1087 controls from the same population. Results The association previously observed on chromosome 9p21 was independently replicated (p=3.08e–07). Within this region, the same risk haplotype was observed in samples from both Korea and of Western European descent, suggesting that the causal mutation carried on this background occurred on a single ancestral allele. Other than 9p21, the authors were unable to replicate any of the previously reported signals for association with CAD. Furthermore, no evidence of association was found at chromosome 1q41 for risk of myocardial infarction, previously identified as conferring risk in a Japanese population. Conclusion A common causal variant is likely to be responsible for risk of CAD in Korean and Western European populations at chromosome 9p21.3. Further investigations are required to confirm non-replication of any other cross-race genetic risk factors.

  9. What Are the Types and Phases of Rett Syndrome?

    Science.gov (United States)

    ... and Publications What are the types & phases of Rett syndrome? Skip sharing on social media links Share this: ... Rett Syndrome (Hanefeld Variant) 6 Late-Childhood Rett Syndrome Forme Fruste Rett Syndrome Preserved-Speech Variant of Rett Syndrome (Zappella ...

  10. Unique challenges for appropriate management of a 16-year-old girl with superior mesenteric artery syndrome as a result of anorexia nervosa: a case report

    Directory of Open Access Journals (Sweden)

    Verhoef Philip A

    2009-11-01

    Full Text Available Abstract Introduction Nausea and vomiting in an adolescent, though common presenting symptoms, often pose a diagnostic and therapeutic challenge to the physician. When the diagnosis involves both medical and psychiatric components, management can be complex, especially in the current healthcare system in the United States. To the best of our knowledge, there have been no previous publications detailing successful management of a patient with anorexia nervosa and superior mesenteric artery syndrome. Case presentation We report the case of a 16-year-old Caucasian girl who presented to our emergency department with nausea, abdominal pain, diminished appetite and vomiting. Her history and examination were notable for a 15 kg weight loss and diffuse abdominal tenderness. A barium swallow X-ray with small bowel follow-through and computed tomography scan demonstrated remarkable duodenal narrowing between the superior mesenteric artery and the aorta, consistent with superior mesenteric artery syndrome. Initial management focused on relieving the obstruction and supporting the nutritional needs of the patient. Further history confirmed a diagnosis of anorexia nervosa, requiring intensive psychiatric and medical management, and necessitating a multifaceted approach to patient care involving social work, multiple primary care physicians and subspecialists, insurance company representatives, and the patient's immediate family. Conclusion This case illustrates important points regarding the pathogenesis of superior mesenteric artery syndrome in the setting of anorexia, and it highlights the complexities that arise when managing an adolescent with both medical and psychiatric needs, as well as outlining a viable solution. While superior mesenteric artery syndrome is an uncommon cause of small bowel obstruction, the general pediatrician and child psychiatrist should be aware of this complication of anorexia nervosa.

  11. Combination of rare right arterial variation with anomalous origins of the vertebral artery, aberrant subclavian artery and persistent trigeminal artery. A case report.

    Science.gov (United States)

    Ishihara, H; San Millán Ruíz, D; Abdo, G; Asakura, F; Yilmaz, H; Lovblad, K O; Rüfenacht, D A

    2011-09-01

    A 32-year-old woman hospitalized for subarachnoid hemorrhage showed rare arterial variation on the right side with anomalous origins of the vertebral artery, aberrant subclavian artery and persistent trigeminal artery. Angiography showed the right vertebral artery to originate from the right common carotid artery, the right subclavian artery to arise separately from the descending aorta, and persistent trigeminal artery on the right side. The possible embryonic mechanism of this previously unreported variant combination is discussed. PMID:22005696

  12. Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.

    Science.gov (United States)

    Jang, Mi-Ae; Lee, Taeheon; Lee, Junnam; Cho, Eun-Hae; Ki, Chang-Seok

    2015-05-01

    Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional genes have been associated with disorders with phenotypic overlap with WS. To screen all possible genes associated with WS and congenital deafness simultaneously, we performed diagnostic exome sequencing (DES) in a male patient with clinical features consistent with WS. Using DES, we identified a novel missense variant (c.220C>G; p.Arg74Gly) in exon 2 of the PAX3 gene in the patient. Further analysis by Sanger sequencing of the patient and his parents revealed a de novo occurrence of the variant. Our findings show that DES can be a useful tool for the identification of pathogenic gene variants in WS patients and for differentiation between WS and similar disorders. To the best of our knowledge, this is the first report of genetically confirmed WS in Korea. PMID:25932447

  13. Morphological changes of intestinal mucosa in patients with different clinical variants of irritable bowel syndrome using tetracyclic antidepressants and selective serotonin reuptake inhibitor

    Directory of Open Access Journals (Sweden)

    Nagieva S.

    2015-12-01

    Full Text Available Objective. To assess histological changes of colonic mucosa in patients with clinically different types of irritable bowel syndrome (IBS before and after the treatment with tetracyclic antidepressant and selective serotonin reuptake inhibitor. Methods. Adult patients (over 18 years with confirmed diagnosis of IBS were examined. Biopsy specimens were taken from colon during colonoscopy for the next histological examination. One expert gastrointestinal pathologist assessed all tissue samples. We patent semi quantitative assessment of the severity of cell infiltration of colonic mucosa, which could be assessed as inflammatory (neutrophils, immune (lymphocytes, plasma cells, macrophages, or allergic (eosinophils response (0 to 3 degrees. All patients received treatment due to the clinical variant of IBS: 1 IBS-constipation – mirtazapinum 15 mg/night+lactulose 30ml/morning (+30ml/night if needed; 2 IBS-diarrhea – escitalopram 5mg/night+rifaximine 600mg/twice a day; 3 IBS-unspecified – mirtazapinum 15 mg/escitalopram 5mg/ night; 4 IBS-mixed – mirtazapinum 15 mg, lactulose 30ml/morning (+30ml/night if needed / escitalopram 5mg/night+rifaximine 600mg/twice a day. Results. 107 patients were examined, 36 of them had constipation (I group, 35 – diarrhea (II group, 22- unspecified variant (III group and 12 patients had mixed variant of IBS (IV group due to Rome III criteria (2006. 1st degree of lymphocyte infiltration was detected in 100% IBS-constipation patients and in 58,3% IBS-mixed variant (p0.05. No cases of 2nd or 3rd degree of colonic mucosa infiltration were found. Conclusion. After the treatment with tetracyclic antidepressant and selective serotonin reuptake inhibitor we found that the degree of inflammation of colonic mucosa was reduced or disappeared, due to the zero degree of infiltration according to our patented classification. Citation: Nagieva S, Svintsitskyy A, Kuryk O, Korendovych I. [Morphological changes of intestinal mucosa

  14. Impaired microvascular reactivity and endothelial function in patients with Cushing's syndrome: Influence of arterial hypertension

    Czech Academy of Sciences Publication Activity Database

    Prázný, M.; Ježková, J.; Horová, E.; Lazárová, V.; Hána, V.; Kvasnička, J.; Pecen, Ladislav; Marek, J.; Škrha, J.; Kršek, M.

    2008-01-01

    Roč. 57, č. 1 (2008), s. 13-22. ISSN 0862-8408 Institutional research plan: CEZ:AV0Z10300504 Keywords : Cushing’s syndrome * vascular reactivity * endothelial function * oxidative stress * laser Doppler flowmetry Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition Impact factor: 1.653, year: 2008

  15. Superior Mesenteric Artery Syndrome Complicated by Diabetic Ketoacidosis and Graves' Disease in Slowly Progressive Insulin Dependent Diabetes Mellitus (SPIDDM): A Case Report and a Review of the Literature.

    Science.gov (United States)

    Hirai, Hiroyuki; Fukushima, Naotaro; Hasegawa, Koji; Watanabe, Tsuyoshi; Hasegawa, Osamu; Satoh, Hiroaki

    2016-01-01

    A 48-year-old woman with a history of diabetes was admitted for nausea and vomiting with body weight loss. A blood examination revealed high plasma glucose and thyroid hormone levels and metabolic acidosis. She was therefore diagnosed with both diabetic ketoacidosis (DKA) and hyperthyroidism. Nausea and vomiting continued intermittently despite the administration of saline and insulin. The patient was further diagnosed with superior mesenteric artery syndrome (SMAS) after abdominal computed tomography revealed that a horizontal portion of the duodenum was sandwiched between the aorta and the superior mesenteric artery. Clinicians should be vigilant for SMAS in patients with both DKA and hyperthyroidism who present body weight loss. PMID:27477411

  16. A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings

    Energy Technology Data Exchange (ETDEWEB)

    Hautala, T.; Heikkinen, J.; Kivirikko, K.I.; Myllylae, R. (Univ. of Oulu (Finland))

    1993-02-01

    Ehlers-Danlos syndrome is a deterogeneous disorder characterized by joint hypermobility, skin hyperextensibility, fragility, and other sign of connective tissue involvement. In addition to these, the type VI variant of the disease has some special characteristics such as kyphoscoliosis and ocular abnormalities. The biochemical abnormality in most patients with this autosomal recessively inherited type IV variant is a deficiency in the activity of lysyl hydroxylase (EC 1.14,11.4), the enzyme catalyzing the formation of hydroxylysine in collagens and other proteins with collagen-like amino acid sequences. The type VI variant of Ehlers-Danlos syndrome was first identified in two sisters with a reduced amount of lysyl hydroxylase activity in their skin fibroblasts (S.R. Pinnell, S.M. Krane, J.E. Kenzora, and M.J. Glimcher (1972) N. Engl. J. Med. 286; 1013-1020). Our recent molecular cloning of lysyl hydroxylase has now made it possible to study the mutations leading to the deficiency in lysyl dydroxylase activity in these cells. Our data indicate that the mRNA for lysyl hydroxylase produced in the affected cells is about 4 kb in size, whereas it is 3.2 kb in the control cells. The sequencing of the cDNA for lysyl hydroxylase from the affected cells revealed an apparently homozygous duplication rearrangement of nucleotides 1176 to 1955, corresponding to amino acids 326 to 585 in the normal sequence. From Southern blotting data, the duplicated area in the gene equals about 6-9 kb and corresponds to seven exons. 35 refs., 4 figs.

  17. Percutaneous Angioplasty and Stenting of left Subclavian Artery Lesions for the Treatment of Patients with Concomitant Vertebral and Coronary Subclavian Steal Syndrome

    International Nuclear Information System (INIS)

    Objective. To evaluate the efficacy of subclavian stenosis percutaneous transfemoral angioplasty (PTA)-treatment in patients with intermittent or complete subclavian steal syndrome (SSS), and coronary-subclavian steal syndrome (C-SSS) after left internal mammary artery-interventricular anterior artery (LIMA-IVA) by pass graft. Methods. We studied 42 patients with coronary subclavian steal syndrome subdivided in two groups; the first group consisted of 15 patients who presented an intermittent vertebral-subclavian steal, while the second group consisted of 27 patients with a complete vertebral-subclavian steal. All patients were treated with angioplasty and stent application and were followed up for a period of 5 years by echocolordoppler examination to evaluate any subclavian restenosis. Results. Subclavian restenosis was significantly increased in patients with a complete subclavian steal syndrome. The restenosis rate was 6.67% in the first group and 40.75% in the second group, These patients had 9.1 fold-increase risk (CI confidence interval 0.95-86.48) in restenosis. Conclusion. Patients with a complete subclavian and coronary steal syndrome present a higher risk of subclavian restenosis

  18. Embolization of a PORT-A-CATH device in the main pulmonary artery and its percutaneous extraction in a patient with pinch-off syndrome.

    Science.gov (United States)

    Çilingiroğlu, Mehmet; Akkuş, Nuri lker

    2012-03-01

    Totally implanted port devices play an important role in acute and chronic medical care of patients with various conditions and are widely used for infusion of fluids, medications, blood or other blood products, and for monitoring hemodynamic parameters. Embolization of a part of port devices is a rare but potentially serious complication of port catheter placement. We report distal embolization of a catheter fragment of a PORT-A-CATH device into the main pulmonary artery and right ventricle and its successful percutaneous retrieval in a patient with metastatic lung cancer, who was also found to have thoracic inlet syndrome or pinch-off syndrome. PMID:22710588

  19. Lemierre syndrome complicated by cavernous sinus thrombosis, the development of subdural empyemas, and internal carotid artery narrowing without cerebral infarction. Case report.

    Science.gov (United States)

    Westhout, Franklin; Hasso, Anton; Jalili, Mehrdad; Afghani, Behnoosh; Armstrong, William; Nwagwu, Chiedozie; Ackerman, Laurie L

    2007-01-01

    Lemierre syndrome is an extremely rare complication of mild-to-moderate pharyngeal infections. The authors present an unusual case of Lemierre syndrome in a 16-year-old boy with cavernous sinus thrombosis and right internal carotid artery narrowing without neurological sequelae, right subdural empyema, and cerebritis in the right temporal and occipital lobes. Neuroimaging also demonstrated right jugular vein thrombosis. Cultures of samples from the blood proved positive for the presence of Fusobacterium necrophorum. The patient underwent unilateral tonsillectomy, drainage of the peritonsillar abscess, and a myringotomy on the right side. Postoperatively the patient was treated conservatively with antibiotic therapy resulting in an excellent outcome. PMID:17233314

  20. Thrombosis of the persistent median artery as a cause of carpal tunnel syndrome – case study

    OpenAIRE

    Rzepecka-Wejs, Ludomira; Multan, Aleksandra; Konarzewska, Aleksandra

    2012-01-01

    Carpal tunnel syndrome is the most frequent neuropathy of the upper extremity, that mainly occurs in manual workers and individuals, whose wrist is overloaded by performing repetitive precise tasks. In the past it was common among of typists, seamstresses and mechanics, but nowadays it is often caused by long hours of computer keyboard use. The patient usually complains of pain, hypersensitivity and paresthesia of his hand and fingers in the median nerve distribution. The symptoms often incre...

  1. Coronary artery disease in women:From the yentl syndrome to contemporary treatment

    Institute of Scientific and Technical Information of China (English)

    Sofia; Vaina; Anastasios; Milkas; Christina; Crysohoou; Christodoulos; Stefanadis

    2015-01-01

    In recent years attention has been raised to the fact of increased morbidity and mortality between women who suffer from coronary disease. The identification of the so called Yentl Syndrome has emerged the deeper investigation of the true incidence of coronary disease in women and its outcomes. In this review an effort has been undertaken to understand the interaction of coronary disease and female gender after the implementation of newer therapeutic interventional and pharmaceutics’ approaches of the modern era.

  2. From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis

    OpenAIRE

    Kozaczuk, Sylwia; Ben-Skowronek, Iwona

    2015-01-01

    Von Hippel-Lindau syndrome is a rare, genetically based, autosomal dominant disorder. Its course is accompanied by the development of multiple neoplasms with the following tumours diagnosed most commonly in the central nervous system haemangioblastoma, clear cell renal cell carcinoma, phaeochromocytomas, pancreatic islet tumours, and endolymphatic sac tumours. Additionally, renal and pancreatic cystadenomas and epididymal cystadenomas have been diagnosed in males and cystadenomas of the broad...

  3. Cerebral arterial angioplasty in a patient with Loeys–Dietz syndrome

    OpenAIRE

    Kellner, Christopher P.; Sussman, Eric S; Donaldson, Christopher; Connolly, E. Sander; Meyers, Philip M.

    2014-01-01

    A 14-year-old boy with Loeys–Dietz syndrome (LDS) had an acute neurologic decline 6 days after a subarachnoid hemorrhage. Cerebral angiography at presentation did not show an aneurysmal source of the hemorrhage. However, on post-bleed day 6 the patient experienced an acutely worsening headache and subsequently lost consciousness. Head CT showed new subarachnoid blood and repeat angiography demonstrated a basilar tip aneurysm. Endovascular coil embolization was performed and his neurologic sta...

  4. Genetic variants in PCSK1 gene are associated with the risk of coronary artery disease in type 2 diabetes in a Chinese Han population: a case control study.

    Directory of Open Access Journals (Sweden)

    Xiaowei Wei

    Full Text Available BACKGROUND: Insulin and glucagon-like peptide 1 (GLP-1, converted by proprotein convertase 1 (PC1/3 from proinsulin and proglucagon, are associated with type 2 diabetes (T2DM and coronary artery disease (CAD. The aim of this study is to investigate the association of PCSK1 gene, which encodes PC1/3, with the risk of CAD in Chinese patients with T2DM. METHODS: We selected and genotyped 5 haplotype-tagging single nucleotide polymorphisms (SNPs at PCSK1 gene (across 39873bp locus in a case-control study of Chinese Han population involving 425 diabetic patients (62.1% male, mean age 63.2 years with CAD as positive cases and 258 diabetic patients (44.2% male, mean age 62.0 years without CAD as controls. RESULTS: The allele frequencies at rs3811951 were significantly different between cases and controls (30.7% vs. 37.2%, with the allele G associated with decreased risk for CAD (OR = 0.75, 95% CI = 0.59-0.94, p = 0.013. In recessive inheritance mode, the carriers of GG had a lower risk (OR = 0.50, 95%CI = 0.31-0.82, p = 0.005, even after adjusted for gender, age, BMI and smoking (OR = 0.43, 95%CI = 0.24-0.77, p = 0.004. The carriers of the minor allele A at rs156019 had a higher risk (OR = 1.66, 95%CI = 1.10-2.50, p = 0.016 after adjustment in dominant inheritance mode. The SNP rs6234 was also significantly associated with CAD risk in women, with the carriers of the minor allele G at rs6234 associated with a reduced CAD risk in recessive inheritance mode (OR = 0.42, 95% CI = 0.18-0.95, p = 0.036 after adjustment. CONCLUSIONS: Our results found that common genetic variants in PCSK1 were associated with CAD in Chinese patients with T2DM.

  5. Age- and Gender Dependent Association between Components of Metabolic Syndrome and Subclinical Arterial Stiffness in a Chinese Population

    Directory of Open Access Journals (Sweden)

    Chunyan Weng, Hong Yuan, Xiaohong Tang, Zhijun Huang, Kan Yang, Wei Chen, Pingting Yang, Zhiheng Chen, Fangping Chen

    2012-01-01

    Full Text Available Background: The aim of this study was to estimate the relationship between arterial stiffness and components of metabolic syndrome (MetS in different age- and gender groups.Methods: A total of 12,900 Chinese adults aged 20-79 years were recruited and stratified on the basis of gender and age. All participants underwent the measurement of waist circumference, blood pressure (BP, brachial-ankle pulse wave velocity (baPWV; an indicator of arterial stiffness, and blood chemistry. Multiple linear regression analysis was performed to evaluate the relationship between baPWV and above variables, to determine the relative influence of each component of MetS on baPWV.Results: The prevalence of metabolic disorders except for low high-density lipoprotein cholesterol (HDL-C was much higher in men than in women. All participants with MetS or any component of MetS except for low HDL-C had higher baPWV. BP was positively correlated with baPWV in all groups, while HDL-C was not correlated with baPWV in any groups. In addition, fasting glucose was related to baPWV in middle-aged adults and the elderly. Waist circumference had a positive association with baPWV in middle-aged adults and young men, triglyceride levels showed a significant correlation with baPWV in middle-aged women and young men. Of the MetS components, elevated BP was the strongest predictor of baPWV.Conclusion: The prevalence of metabolic disorders and the association between baPWV and metabolic variables are dependent on age and gender. Different components of MetS exert distinct impacts on the baPWV in different age- and gender groups, with BP being the strongest predictor. It is suggested that age and gender should be taken into accounted in the management of MetS aiming to reduce subsequent complications.

  6. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

    Science.gov (United States)

    Monroe, Glen R; Harakalova, Magdalena; van der Crabben, Saskia N; Majoor-Krakauer, Danielle; Bertoli-Avella, Aida M; Moll, Frans L; Oranen, Björn I; Dooijes, Dennis; Vink, Aryan; Knoers, Nine V; Maugeri, Alessandra; Pals, Gerard; Nijman, Isaac J; van Haaften, Gijs; Baas, Annette F

    2015-06-01

    Different forms of Ehlers-Danlos syndrome (EDS) exist, with specific phenotypes and associated genes. Vascular EDS, caused by heterozygous mutations in the COL3A1 gene, is characterized by fragile vasculature with a high risk of catastrophic vascular events at a young age. Classic EDS, caused by heterozygous mutations in the COL5A1 or COL5A2 genes, is characterized by fragile, hyperextensible skin and joint laxity. To date, vessel rupture in four unrelated classic EDS patients with a confirmed COL5A1 mutation has been reported. We describe familial occurrence of a phenotype resembling vascular EDS in a mother and her two sons, who all died at an early age from arterial ruptures. Diagnostic Sanger sequencing in the proband failed to detect aberrations in COL3A1, COL1A1, COL1A2, TGFBR1, TGFBR2, SMAD3, and ACTA2. Next, the proband's DNA was analyzed using a next-generation sequencing approach targeting 554 genes linked to vascular disease (VASCULOME project). A novel heterozygous mutation in COL5A1 was detected, resulting in an essential glycine substitution at the C-terminal end of the triple helix domain (NM_000093.4:c.4610G>T; p.Gly1537Val). This mutation was also present in DNA isolated from autopsy material of the index's brother. No material was available from the mother, but the mutation was excluded in her parents, siblings and in the father of her sons, suggesting that the COL5A1 mutation occurred in the mother's genome de novo. In conclusion, we report familial occurrence of lethal arterial events caused by a COL5A1 mutation. PMID:25845371

  7. Association of Sterile Pyuria and Coronary Artery Aneurysm in Kawasaki Syndrome

    Directory of Open Access Journals (Sweden)

    Mohsen Akhavan Sepahi

    2011-09-01

    Full Text Available "nKawasaki disease (KD is an inflammatory multiorgan disease of unknown etiology. The most dramatic organ involved is the heart. There were a few studies about cardiac involvement and sterile pyuria. This study guides to determine if sterile pyuria is associated with coronary artery aneurysm (CAA in KD patients and to consider it as a predicting factor for coronary artery involvement. Forty seven patients with KD were studied by echocardiography in admission and one month later. Urine analysis, complete blood count, erythrocyte sedimentation rate and C-reactive protein were measured in admission. Data were analyzed using SPSS-14 software. Patients' age was ranged from 13 month to 7 years old (mean age of 3.43 ± 1.54 years. Thirty patients (63.8% were male and 17 patients (36.1% were female. Cardiac involvement was detected in 32 patients (68% using echocardiography, of which CAA was reported in 8 cases (17%. Six of CAA (75% were in association with sterile pyuria, although it was statistically insignificant (P>0.05. Although the majority of patients with CAA had sterile pyuria, this association is not statistically significant, thus it couldn't be considered as a predicting factor for CAA.

  8. Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population

    Science.gov (United States)

    He, Miao; Bian, Zhuan

    2016-01-01

    Background Grainyhead-like-3 (GRHL3) was recently identified as the second gene that, when mutated, can leads to Van der Woude syndrome, which is characterized by orofacial clefts (OFC) and lower lip pits. In addition, a missense variant (rs41268753) in GRHL3 confers risk for non-syndromic cleft palate cases of European ancestry. Together with interferon regulatory factor 6 (IRF6), GRHL3 may be associated with the risk of NSOFC which awaits for being verified across different ethnic populations. Objective The aim of this study was to investigate the possible relationship between common functional variants in GRHL3 and susceptibility to NSOFC, especially cleft palate cases, in a Han Chinese population, one of the ethnic groups with the highest birth prevalence of orofacial clefting. Methods Because the allele frequency for rs41268753 minor alleles was zero in our Chinese population, we selected functional single nucleotide polymorphisms (SNPs) spanning GRHL3 with minor allele frequencies (MAFs) > 5% in the Han Chinese population. Two SNPs which meet the above criteria were then genotyped in a case-control cohort comprising 1145 individuals using the TaqMan 5′-exonuclease allelic discrimination assay. Results SNPs rs2486668 and rs545809 were used in this study. Overall genotype and allele distributions of both SNPs in general and stratified genotyping analyses revealed no statistically significant differences between cases and controls. Further logistic regression analyses using different genetic models failed to reveal any evidence that these markers influence risk to NSOFC. Conclusions The variant rs41268753 in GRHL3 increases the risk for cleft palate in European population, but our findings failed to detect the link between two GRHL3 SNPs (rs2486668 and rs545809) and risk to NSOFC in the Han Chinese cohort. Although the present study did not provide any evidence that common functional variants in GRHL3 may contribute to NSOFC etiology in this Chinese population

  9. Stiffness of the large arteries in individuals with and without Down syndrome

    OpenAIRE

    Rodrigues AN; Coelho LC; Goncalves WLS; Gouvea SA; Vasconcellos MJR; Cunha RS; GR Abreu

    2011-01-01

    Anabel N Rodrigues1,2, Luan Cesar Coelho1, Washington LS Goncalves1,2, Sonia Alves Gouvea2, Maria José Rossi Vasconcellos1, Roberto S Cunha2, Glaucia R Abreu21School of Medicine, University Center of Espírito Santo, Colatina; 2Postgraduate Program in Physiological Sciences, Center for Health Sciences, Federal University of Espirito Santo, Vitória, BrazilBackground: Down syndrome is known to cause premature aging in several organ systems. However, it remains un...

  10. Genetic Variants at the PDZ-Interacting Domain of the Scavenger Receptor Class B Type I Interact with Diet to Influence the Risk of Metabolic Syndrome in Obese Men and Women

    Science.gov (United States)

    The scaffolding protein PDZ domain containing 1 (PDZK1) regulates the HDL receptor scavenger receptor class B type I. However, the effect of PDZK1 genetic variants on lipids and metabolic syndrome (MetS) traits remains unknown. This study evaluated the association of 3 PDZK1 single nucleotide polymo...

  11. A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2.

    Science.gov (United States)

    Siomou, Elisavet; Manolakos, Emmanouil; Petersen, Michael; Thomaidis, Loretta; Gyftodimou, Yolanda; Orru, Sandro; Papoulidis, Ioannis

    2012-11-01

    Waardenburg syndrome (WS) is a rare (1/40,000) autosomal dominant disorder resulting from melanocyte defects, with varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four clinical subtypes (WS1-S4). Six genes have been identified to be associated with the different subtypes of WS, among which SOX10, which is localized within the region 22q13.1. Lately it has been suggested that whole SOX10 gene deletions can be encountered when testing for WS. In this study we report a case of a 13-year-old boy with a unique de novo 725 kb deletion within the 22q13.1 chromosomal region, including the SOX10 gene and presenting clinical features of a neurologic variant of WS2. PMID:22842075

  12. A global amnesia associated with the specific variant of posterior reversible encephalopathy syndrome (PRES) that developed due to severe preeclampsia and malignant hypertension.

    Science.gov (United States)

    Borovac, Josip Anđelo; Božić, Joško; Žaja, Nikola; Kolić, Krešimir; Hrboka, Vedran

    2016-04-01

    A case is reported of a 26-year-old primiparous woman in the 32nd week of gestation who presented to the emergency department with the symptoms of a severe headache, nausea and vomiting. The patient was diagnosed with preeclampsia that later progressed to eclampsia. This state was characterized by a sudden onset of a headache and diplopia that advanced to cortical blindness and precipitated significant alterations in mental status, most notable being global amnesia that resolved within 48 h. A post-partum magnetic resonance imaging of the brain in FLAIR mode revealed multiple cortico-subcortical areas of hyperintense signals suggestive of edematous lesions that chiefly involved occipital and parietal lobes with additional atypical manifestations. Such radiologic findings suggested a posterior reversible encephalopathy syndrome variant with the global amnesia as an extraordinary constituent. This unique feature should be acknowledged when treating a preeclamptic or hypertensive patient that exhibits neurological symptomatology and vision disturbances. PMID:27099774

  13. A global amnesia associated with the specific variant of posterior reversible encephalopathy syndrome (PRES) that developed due to severe preeclampsia and malignant hypertension

    Science.gov (United States)

    Borovac, Josip Anđelo; Božić, Joško; Žaja, Nikola; Kolić, Krešimir; Hrboka, Vedran

    2016-01-01

    A case is reported of a 26-year-old primiparous woman in the 32nd week of gestation who presented to the emergency department with the symptoms of a severe headache, nausea and vomiting. The patient was diagnosed with preeclampsia that later progressed to eclampsia. This state was characterized by a sudden onset of a headache and diplopia that advanced to cortical blindness and precipitated significant alterations in mental status, most notable being global amnesia that resolved within 48 h. A post-partum magnetic resonance imaging of the brain in FLAIR mode revealed multiple cortico-subcortical areas of hyperintense signals suggestive of edematous lesions that chiefly involved occipital and parietal lobes with additional atypical manifestations. Such radiologic findings suggested a posterior reversible encephalopathy syndrome variant with the global amnesia as an extraordinary constituent. This unique feature should be acknowledged when treating a preeclamptic or hypertensive patient that exhibits neurological symptomatology and vision disturbances. PMID:27099774

  14. 48. Can early 24 hours Holter monitoring predict obstructive coronary artery lesions in patients with low risk acute coronary syndrome?

    Directory of Open Access Journals (Sweden)

    T. Taha

    2016-07-01

    Full Text Available Identification of patients at increased risk of death due to acute coronary syndrome (ACS can add to risk stratification and guide the next step in the management of those patients. Altered HRV has been associated with adverse outcomes in heart disease, but this has not been established in patients with acute chest pain.This study aimed to create a non-invasive, economical and risk-free method in the clinical evaluation and diagnosis of significant CAD among patients with unstable angina.Twenty-four-hour Holter recordings of 100 patients with ACS were initiated within 24 hours of admission at the emergency department; stress ECG was done for all patients while coronary angiography was done only for patients with abnormal stress test. Time domain, frequency domain, and nonlinear HRV were examined.The mean SDNN was statistically significantly lower in patients with abnormal stress test, many time and frequency domain HRV parameters was statistically lower in patients with significant coronary arteries obstruction. HRV measured close to the ACS onset may assist in risk stratification. HRV parameters may provide additional, incremental prognostic information to established assessment guidelines and possible early intervention in those patients.

  15. Specific complications of monochorionic twin pregnancies: twin-twin transfusion syndrome and twin reversed arterial perfusion sequence.

    Science.gov (United States)

    Chalouhi, G E; Stirnemann, J J; Salomon, L J; Essaoui, M; Quibel, T; Ville, Y

    2010-12-01

    Monochorionic twins are subjected to specific complications which originate in either imbalance or abnormality of the single placenta serving two twins. This unequal placental sharing can cause complications including twin-twin transfusion syndrome (TTTS), twin anemia-polycythemia sequence (TAPS), selective intrauterine growth restriction or twin reversed arterial perfusion sequence (TRAP). Monochorionicity also makes the management of these specific complications as well as that of a severe malformation in one twin hazardous since the spontaneous death of one twin exposes the co-twin to a risk of exsanguination into the dead twin and its placenta. The latter is responsible for the death of the co-twin in up to 20% of the cases and in ischemic sequelae in about the same proportions in the survivors. Although the symptoms of all these complications are very different, the keystone of their management comes down to either surgical destruction of the inter-twin anastomoses on the chorionic plate when aiming at dual survival or selective and permanent occlusion of the cord of a severely affected twin aiming at protecting the normal co-twin. This can be best achieved by fetoscopic selective laser coagulation and bipolar forceps cord coagulation respectively. PMID:20855238

  16. Poincaré analysis of an overnight arterial oxygen saturation signal applied to the diagnosis of sleep apnea hypopnea syndrome

    International Nuclear Information System (INIS)

    The analysis of oxygen desaturations is a basic variable in polysomnographic studies for the diagnosis of sleep apnea. Several algorithms operating in the time domain already exist for sleep apnea detection via pulse oximetry, but in a disadvantageous way—they achieve either a high sensitivity or a high specificity. The aim of this study was to assess whether an alternative analysis of arterial oxygen saturation (SaO2) signals from overnight pulse oximetry could yield essential information on the diagnosis of sleep apnea hypopnea syndrome (SAHS). SaO2 signals from 117 subjects were analyzed. The population was divided into a learning dataset (70 patients) and a test set (47 patients). The learning set was used for tuning thresholds among the applied Poincaré quantitative descriptors. Results showed that the presence of apnea events in SAHS patients caused an increase in the SD1 Poincaré parameter. This conclusion was assessed prospectively using the test dataset. 90.9% sensitivity and 84.0% specificity were obtained in the test group. We conclude that Poincaré analysis could be useful in the study of SAHS, contributing to reduce the demand for polysomnographic studies in SAHS screening

  17. Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Mentzel, H.-J. [Institute of Diagnostic and Interventional Radiology, University of Jena (Germany)]|[Institute of Diagnostic and Interventional Radiology, Bachstrasse 18, D-07 740 Jena (Germany); Seidel, J.; Vogt, L. [Department of Paediatrics, University of Jena, Friedrich-Schiller-Universitaet Jena, Jena/Thueringen (Germany); Vogt, S.; Kaiser, W.A. [Institute of Diagnostic and Interventional Radiology, University of Jena (Germany)

    1999-01-01

    We report an 18-year-old boy with occipital horn syndrome who developed aneurysms of the splenic and hepatic arteries. Occipital horn syndrome, also called X-linked cutis laxa or Ehlers-Danlos syndrome (EDS) type IX, is characterised by a skeletal dysplasia which includes occipital horns, broad clavicles, deformed radii, ulnae and humeri, narrow rib cage, undercalcified long bones and coxa valga. Distinctive features common to all patients are unusual facial appearance, hypermobility of finger joints, limitation of extension of elbows, chronic diarrhoea and genitourinary abnormalities. In this case report we describe the difficulties encountered in the diagnostic management of patients with EDS-related vascular lesions. (orig.) With 5 figs., 2 tabs., 12 refs.

  18. CT-guided thoracal sympathicolysis for the treatment of peripheral arterial occlusive disease and chronic thoracal pain syndromes in 6 patients

    International Nuclear Information System (INIS)

    Purpose: Retrospective evaluation of the safety and effectivity of CT-guided percutaneous thoracal sympathicolysis (CT-TSL) in the treatment of patients with peripheral arterial occlusive disease (PAOD) of the upper limb and chronic thoracal pain syndromes. Comparison of our own experience with literature reports. Material and Methods: Between 6/96 and 12/99, 4 patients with PAOD of the upper limb and two with chronic thoracal pain syndromes caused by herpes zoster were treated by unilateral CT-TSL. Results: 18, 21 and 32 months after the intervention 3 out of 4 patients treated for PAOD reported subjective improvements, and one remained unchanged. Two patients treated for pain syndromes showed no long-term benefit of the procedure. There were no serious complications. Conclusion: The CT-TSL is an alternative method in the treatment of PAOD in patients who are unsuitable for treatment by revascularization. (orig.)

  19. Visualization of coronary arteries in patients after childhood Kawasaki syndrome: value of multidetector CT and MR imaging in comparison to conventional coronary catheterization

    Energy Technology Data Exchange (ETDEWEB)

    Arnold, Raoul [University Hospital, Department of Paediatric Cardiology, Heidelberg (Germany); University Hospital, Department of Paediatric Cardiology, Freiburg (Germany); Ley, Sebastian [Department of Radiology, German Cancer Research Centre, Heidelberg (Germany); University Hospital, Department of Paediatric Radiology, Heidelberg (Germany); Ley-Zaporozhan, Julia; Kauczor, Hans-Ulrich [Department of Radiology, German Cancer Research Centre, Heidelberg (Germany); Eichhorn, Joachim; Ulmer, Herbert [University Hospital, Department of Paediatric Cardiology, Heidelberg (Germany); Schenk, Jens-Peter [University Hospital, Department of Paediatric Radiology, Heidelberg (Germany)

    2007-10-15

    After childhood Kawasaki syndrome (KS) the coronary arteries undergo a lifelong dynamic pathological change, and follow-up coronary artery imaging is essential. At present, conventional coronary catheterization (CCC) and angiography is still regarded as the gold standard. Less-invasive methods such as multidetector CT angiography (MDCT-A) and MRI have been used sporadically. To compare the diagnostic quality of MDCT-A and MRI with that of CCC for coronary imaging in a group of patients with coronary artery pathology after childhood KS. A total of 16 patients (aged 5-27 years) underwent CCC and 16-row MDCT-A and 14 patients MRI (1.5 T). There was 100% agreement between MDCT-A and CCC in the detection of coronary aneurysms and stenoses. MDCT-A was superior for the visualization of calcified lesions. MRI and CCC showed 93% agreement for the detection of aneurysms. Visualization of coronary artery stenoses was difficult using MRI - one stenosis was missed. MDCT-A has excellent correlation with CCC regarding all changes affecting the coronary arteries in the follow-up of childhood KS. In comparison to MDCT-A and CCC, MRI is less precise in the detection of stenotic lesions. Due to its high image quality and ease of performance MDCT-A should be the primary diagnostic modality in patients following childhood KS. (orig.)

  20. Visualization of coronary arteries in patients after childhood Kawasaki syndrome: value of multidetector CT and MR imaging in comparison to conventional coronary catheterization

    International Nuclear Information System (INIS)

    After childhood Kawasaki syndrome (KS) the coronary arteries undergo a lifelong dynamic pathological change, and follow-up coronary artery imaging is essential. At present, conventional coronary catheterization (CCC) and angiography is still regarded as the gold standard. Less-invasive methods such as multidetector CT angiography (MDCT-A) and MRI have been used sporadically. To compare the diagnostic quality of MDCT-A and MRI with that of CCC for coronary imaging in a group of patients with coronary artery pathology after childhood KS. A total of 16 patients (aged 5-27 years) underwent CCC and 16-row MDCT-A and 14 patients MRI (1.5 T). There was 100% agreement between MDCT-A and CCC in the detection of coronary aneurysms and stenoses. MDCT-A was superior for the visualization of calcified lesions. MRI and CCC showed 93% agreement for the detection of aneurysms. Visualization of coronary artery stenoses was difficult using MRI - one stenosis was missed. MDCT-A has excellent correlation with CCC regarding all changes affecting the coronary arteries in the follow-up of childhood KS. In comparison to MDCT-A and CCC, MRI is less precise in the detection of stenotic lesions. Due to its high image quality and ease of performance MDCT-A should be the primary diagnostic modality in patients following childhood KS. (orig.)

  1. Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease cardiovascular disease cohort.

    Science.gov (United States)

    There is a growing literature indicating that genetic variants modify many of the associations between environmental exposures and clinical outcomes, potentially by increasing susceptibility to these exposures. However, genome-scale investigations of these interactions have been ...

  2. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

    DEFF Research Database (Denmark)

    Aung, Tin; Ozaki, Mineo; Mizoguchi, Takanori;

    2015-01-01

    Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further ...

  3. Association of Obesity Susceptibility Gene Variants with Metabolic Syndrome and Related Traits in 1,443 Czech Adolescents

    Czech Academy of Sciences Publication Activity Database

    Dusatkova, L.; Zamrazilova, H.; Sedlackova, B.; Vcelak, J.; Hlavaty, P.; Hainerova, I.A.; Korenková, Vlasta; Bradnova, O.; Bendlova, B.; Kunesova, M.; Hainer, V.

    2013-01-01

    Roč. 59, č. 3 (2013), s. 123-133. ISSN 0015-5500 Institutional research plan: CEZ:AV0Z50520701 Keywords : Genome-wide association studies * obesity * metabolic syndrome Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.778, year: 2013

  4. Lichenoid mucocutaneous syndrome a variant of para neoplastic pemphigus (PNP following the treatment of follicular non-Hodgkin’s lymphoma with fludarabine

    Directory of Open Access Journals (Sweden)

    Katz J

    2013-05-01

    Full Text Available Background: Paraneoplastic pemphigus (PNP is an autoimmune mucocutaneous disease associated with cancer. Since the original description of the condition, various publications have suggested the presence of a heterogeneous spectrum of paraneoplastic mucocutaneous conditions with clinical features of lichenplanus. Several cases of PNP have been reported following treatment with fludarabine. Methods: We present a case of lichenoid syndrome in a follicular B-cell non-Hodgkin lymphoma (NHL patient after treatment with fludarabine and review 8 additional published cases of fludarabine related PNP. Results: Our case is unique due to the fact that the patient presented with lichenoid features both clinically and microscopically and responded well to rituximab therapy. According to literature, both skin and mucosa (eyes and gastrointestinal tract are involved and symptoms start about 1-2 weeks after exposure to fludarabine. Various immunosuppressive treatments have been employed including high dose steroids. Many of these patients developed complications related to the immunosuppressive therapy such as cytomegalovirus, candidiasis and pneumocystis carinii infection and died from respiratory failure. On the other hand, long-term remissions have also been described. Conclusion: Our case represents an unusual case of fludarabine related to mucocutaneous lichenoid syndrome, a variant of PNP, and in view of the outcome in previously described cases, rituximab may be considered a preferred and safe first line therapy for such complication.

  5. Effects of continuous administration of clopidogrel before off-pump coronary artery bypass grafting in patients with acute coronary syndrome. A propensity score analysis

    International Nuclear Information System (INIS)

    Clopidogrel has become standard treatment after urgent percutaneous coronary revascularization. Due to its enhanced and irreversible platelet inhibition, patients undergoing urgent surgical revascularization have a higher risk of bleeding complications and transfusions. Therefore, the effect of preoperative continuous administration of clopidogrel on the incidence of hemorrhagic complications in patients undergoing off-pump coronary artery bypass surgery with acute coronary syndrome was evaluated. From March 2004 to September 2006, 172 patients with acute coronary syndrome underwent isolated off-pump coronary artery bypass surgery; 70 (40.7%) and 102 (59.3%) of these patients did or did not take clopidogrel before surgery respectively. Seventy patients in each group were matched using propensity scores and associations between preoperative continuous administration of clopidogrel and postoperative bleeding, hemostatic reoperation, blood products received, the need for multiple transfusions and early graft patency by coronary computed tomography were assessed. Univariate analysis showed the continuous clopidogrel group had similar levels of postoperative bleeding for 24 h (601.4±312.6 ml vs 637.2±452.4 ml, p=0.616) and rates of reexploration (1.4% vs 1.4%), perioperative blood transfusion (33.3% vs 34.3%, p>0.05) and platelet transfusion (2.9% vs 7.1%, p=0.44) compared with the non-continuous group. Preoperative continuous administration of clopidogrel did not increase the risk of hemorrhagic complications in patients with acute coronary syndrome undergoing isolated off-pump coronary artery bypass surgery. These findings indicate that surgery after clopidogrel treatment in patients with acute coronary syndrome should not be delayed until platelet function returns to normal because they may have a higher risk of recurrent myocardial ischemic events. (author)

  6. 变异型Guillain-Barre综合征的临床特点%Clinical features of variant Guillain-Barre syndrome

    Institute of Scientific and Technical Information of China (English)

    仇一青; 毕晓莹; 蔡建美; 刘康; 丁素菊

    2012-01-01

    Objective To explore the clinical features of valiant Guillain-Barre syndrome (GBS). Methods The clinical data of 14 variant GBS patients were retrospectively analyzed. Results In this group, the 10 cases were female and 4 cases were male. The onset was acute or sub-acute. Eleven cases had related incentive factor before onset. The clinical manifestations were presented multiple cranial nerves type, acute motor axonal neuropathy, Miller-Fish syndrome and extensive vegetative nerve functional disturbances. Twelve eases received lumbar puncture and CSF protein was raised in 11 cases. MEG examination was showed that 9 in 12 cases had peripheral neuropathic injury. The syndromes in all the eases were improved after individual treatments. Conclusions The clinical types and manifestations of variant GBS were varied, and female patients are more. The CSF protein-cell separation and peripheral nerves injury by MEG are helpful for the diagnosis.%目的 探讨变异型Guillain-Barre综合征(GBS)的临床特点.方法 回顾性分析14例变异型GBS患者的临床资料.结果 本组10例为女性,4例为男性;均为急性或亚急性起病,病前11例有相关诱因;临床表现为多脑神经型、急性运动轴索型、Miller-Fish综合征及全自主神经功能障碍型.12例行腰椎穿刺术,11例脑脊液蛋白增高;11例行肌电图检查,9例提示为周围神经源性损害;经个体化治疗所有患者的症状均有改善.结论 变异型GBS类型及临床表现多样,以女性患者多见;脑脊液蛋白-细胞分离及肌电图检查为周围神经源性损害有助于诊断.

  7. Endovascular management of patients with coronary artery disease and diabetic foot syndrome:A long-term follow-up

    Institute of Scientific and Technical Information of China (English)

    Gianluca Rigatelli; Paolo Cardaioli; Fabio dell'Avvocata; Massimo Giordan; Giovanna Lisato; Francesco Mollo

    2011-01-01

    Background To investigate the long-term results of global coronary and peripheral interventional treatment of diabetic foot patients.Methods We retrospectively included 220 diabetic patients (78.5±15.8 years,107 females,all with Fontaine III or IV class) who were referred to our centre for diabetic foot syndrome and severe limb ischemia from January 2006 to December 2010.Patients were evaluated by a team of interventional cardiologists and diabetologists in order to assess presence of concomitant coronary artery disease (CAD) and eventual need for coronary revascularization. Stress-echo was performed in all patients before diagnostic peripheral angiography. Patients with indications for coronary angiography were submitted to combined diagnostic angiography and then to eventual staged peripheral and coronary interventions.Doppler ultrasonography and foot transcutaneous oximetry of transcutaneous oxygen pressure (TcPO2) before and after the procedure were performed as well as stressechocardiography and combined cardiologic and diabetic examination at 1 and 6 month and yearly.Results Stress-echocardiography was performed in 94/220 patients and resulted positive in 56 patients who underwent combined coronary and peripheral angiography.In the rest of 126 patients,combined coronary and peripheral angiography was performed directly for concomitant signs and symptoms of coronary heart disease in 35 patients.Coronary revascularization was judged necessary in 85/129 patients and was performed percutaneously after peripheral interventions in 72 patients and surgically in 13 patients.For Diabetic foot interventions the preferred approach was ipsilateral femoral antegrade in 170/220 patients (77.7%) and contralateral cross-over in 40/220 patients (18.8%) and popliteal retrograde+femoral antegrade in 10/220 patients (4.5%).Balloon angioplasty was performed in 252 legs (32 patients had bilateral disease):the procedure was successful in 239/252 legs with an immediate success rate

  8. Endovascular management of patients with coronary artery disease and diabetic foot syndrome: A long-term follow-up

    Directory of Open Access Journals (Sweden)

    Gianluca Rigatelli

    2011-06-01

    Full Text Available Background To investigate the long-term results of global coronary and peripheral interventional treatment of diabetic foot patients. Methods We retrospectively included 220 diabetic patients (78.5 +/- 15.8 years, 107 females, all with Fontaine III or IV class who were referred to our centre for diabetic foot syndrome and severe limb ischemia from January 2006 to December 2010. Patients were evaluated by a team of interventional cardiologists and diabetologists in order to assess presence of concomitant coronary artery disease (CAD and eventual need for coronary revascularization. Stress-echo was performed in all patients before diagnostic peripheral angiography. Patients with indications for coronary angiography were submitted to combined diagnostic angiography and then to eventual staged peripheral and coronary interventions. Doppler ultrasonography and foot transcutaneous oximetry of transcutaneous oxygen pressure (TcPO2 before and after the procedure were performed as well as stress-echocardiography and combined cardiologic and diabetic examination at 1 and 6 month and yearly. Results Stress-echocardiography was performed in 94/220 patients and resulted positive in 56 patients who underwent combined coronary and peripheral angiography. In the rest of 126 patients, combined coronary and peripheral angiography was performed directly for concomitant signs and symptoms of coronary heart disease in 35 patients. Coronary revascularization was judged necessary in 85/129 patients and was performed percutaneously after peripheral interventions in 72 patients and surgically in 13 patients. For Diabetic foot interventions the preferred approach was ipsilateral femoral antegrade in 170/220 patients (77.7% and contralateral cross-over in 40/220 patients (18.8% and popliteal retrograde + femoral antegrade in 10/220 patients (4.5%. Balloon angioplasty was performed in 252 legs (32 patients had bilateral disease: the procedure was successful in 239/252 legs

  9. Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation

    OpenAIRE

    Hee Jeong Yoo; Kyung Kim; In Hyang Kim; Seong-Hwan Rho; Jong-Eun Park; Ki Young Lee; Soon Ae Kim; Byung Yoon Choi; Namshin Kim

    2015-01-01

    Rubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000–720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis. The purpos...

  10. Genetic polymorphisms variants in interleukin-6 and interleukin-1beta patients with obstructive sleep apnea syndrome in East Northern Turkey

    Directory of Open Access Journals (Sweden)

    Ilhami Gok

    2015-08-01

    Full Text Available Aim To investigate the relationship of IL-1β and IL-6 cytokine gene polymorphisms with obstructive sleep apnea syndrome (OSAS in 61 patients admitted to the neurology clinic in Kafkas University Hospital with insomnia problem who were diagnosed with OSAS in sleeping labs, and 80 healthy subjects not associated with the syndrome. Methods Blood samples were taken to isolate DNA from patients diagnosed with OSAS based on polysomnography results and healthy controls. DNA amplification of the genes was performed with PCR. Amplification products were cut with the restriction enzymes in order to determine IL-1 gene (TaqI and IL-6 gene (Lwel polymorphisms. The cut DNA fragments were carried out in agarose gel electrophoresis, and RFLP analysis was performed by utilizing the images with gel imaging system. PCR products were sequenced with an Applied Biosystems Automated Sequencer. Results Polymorphic changes were observed for IL-1β gene in 26 of 62 patients (41.9%, and 16 of the 80 (25.8% in the control group. The incidence of polymorphic changes in IL-6 gene was in seen in seven (of the 62 patients (11.3%, and in the 16 (20% controls. Conclusion The findings on the genomic level in OSAS may provide an important contribution to diagnosis of obstructive sleep apnea syndrome in clinical practice, as well as it helps to obtain the results easily about environmental and genetic interaction of OSAS patients.

  11. Integrated SPECT/CT for assessment of haemodynamically significant coronary artery lesions in patients with acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Rispler, Shmuel [Technion - Israel Institute of Technology, Department of Cardiology, Rambam Health Care Campus and the B. Rappaport Faculty of Medicine, Haifa (Israel); Technion - Israel Institute of Technology, Department of Nuclear Medicine, Rambam Health Care Campus and the B. Rappaport Faculty of Medicine, Haifa (Israel); Aronson, Doron; Roguin, Ariel; Beyar, Rafael [Technion - Israel Institute of Technology, Department of Cardiology, Rambam Health Care Campus and the B. Rappaport Faculty of Medicine, Haifa (Israel); Abadi, Sobhi; Engel, Ahuva [Technion - Israel Institute of Technology, Department of Medical Imaging, Rambam Health Care Campus and the B. Rappaport Faculty of Medicine, Haifa (Israel); Israel, Ora; Keidar, Zohar [Technion - Israel Institute of Technology, Department of Nuclear Medicine, Rambam Health Care Campus and the B. Rappaport Faculty of Medicine, Haifa (Israel)

    2011-10-15

    Early risk stratification in patients with non-ST elevation acute coronary syndromes (NSTE-ACS) is important since the benefit from more aggressive and costly treatment strategies is proportional to the risk of adverse clinical events. In the present study we assessed whether hybrid single photon emission computed tomography (SPECT)/coronary computed tomography angiography (CCTA) technology could be an appropriate tool in stratifying patients with NSTE-ACS. SPECT/CCTA was performed in 90 consecutive patients with NSTE-ACS. The Thrombolysis in Myocardial Infarction risk score (TIMI-RS) was used to classify patients as low- or high-risk. Imaging was performed using SPECT/CCTA to identify haemodynamically significant lesions defined as >50% stenosis on CCTA with a reversible perfusion defect on SPECT in the corresponding territory. CCTA demonstrated at least one lesion with >50% stenosis in 35 of 40 high-risk patients (87%) as compared to 14 of 50 low-risk patients (35%; TIMI-RS <3; p <0.0001). Of the 40 high-risk and 50 (16%) low-risk TIMI-RS patients, 16 (40%) and 8 (16%), respectively, had haemodynamically significant lesions (p = 0.01). Patients defined as high-risk by a high TIMI-RS, a positive CCTA scan or both (n = 45) resulted in a sensitivity of 95%, specificity of 49%, PPV of 35% and NPV of 97% for having haemodynamically significant coronary lesions. Those with normal perfusion were spared revascularization procedures, regardless of their TIMI-RS. Noninvasive assessment of coronary artery disease by SPECT/CCTA may play an important role in risk stratification of patients with NSTE-ACS by better identifying the subgroup requiring intervention. (orig.)

  12. Integrated SPECT/CT for assessment of haemodynamically significant coronary artery lesions in patients with acute coronary syndrome

    International Nuclear Information System (INIS)

    Early risk stratification in patients with non-ST elevation acute coronary syndromes (NSTE-ACS) is important since the benefit from more aggressive and costly treatment strategies is proportional to the risk of adverse clinical events. In the present study we assessed whether hybrid single photon emission computed tomography (SPECT)/coronary computed tomography angiography (CCTA) technology could be an appropriate tool in stratifying patients with NSTE-ACS. SPECT/CCTA was performed in 90 consecutive patients with NSTE-ACS. The Thrombolysis in Myocardial Infarction risk score (TIMI-RS) was used to classify patients as low- or high-risk. Imaging was performed using SPECT/CCTA to identify haemodynamically significant lesions defined as >50% stenosis on CCTA with a reversible perfusion defect on SPECT in the corresponding territory. CCTA demonstrated at least one lesion with >50% stenosis in 35 of 40 high-risk patients (87%) as compared to 14 of 50 low-risk patients (35%; TIMI-RS <3; p <0.0001). Of the 40 high-risk and 50 (16%) low-risk TIMI-RS patients, 16 (40%) and 8 (16%), respectively, had haemodynamically significant lesions (p = 0.01). Patients defined as high-risk by a high TIMI-RS, a positive CCTA scan or both (n = 45) resulted in a sensitivity of 95%, specificity of 49%, PPV of 35% and NPV of 97% for having haemodynamically significant coronary lesions. Those with normal perfusion were spared revascularization procedures, regardless of their TIMI-RS. Noninvasive assessment of coronary artery disease by SPECT/CCTA may play an important role in risk stratification of patients with NSTE-ACS by better identifying the subgroup requiring intervention. (orig.)

  13. Metabolic Syndrome-Associated Risk Factors and High-Sensitivity C-Reactive Protein Independently Predict Arterial stiffness in 9903 Subjects With and Without Chronic Kidney Disease

    OpenAIRE

    Tsai, Sung-Sheng; Lin, Yu-Sheng; Lin, Chia-Pin; Hwang, Jawl-Shan; Wu, Lung-Sheng; Chu, Pao-Hsien

    2015-01-01

    Abstract Metabolic syndrome (MS), high-sensitivity C-reactive protein (hs-CRP), and chronic kidney disease (CKD) are related to cardiovascular diseases. Although MS is common in CKD subjects, the contribution of MS-associated risk factors and hs-CRP to arterial stiffness in CKD has not been well studied. In this cross-sectional cohort study, we enrolled 9903 subjects who underwent brachial-ankle pulse wave velocity (baPWV) measurements from our database of Health Care Center. CKD was defined ...

  14. Marked Increase in Flow Velocities During Deep Expiration: A Duplex Doppler Sign of Celiac Artery Compression Syndrome

    International Nuclear Information System (INIS)

    Symptoms of chronic mesenteric ischemia develop when the celiac artery is constricted by the median arcuate ligament of the diaphragm. Lateral aortography is the primary modality for diagnosing ligamentous compression of the celiac artery. However, duplex Doppler sonography performed during deep expiration can cause a marked increase in flow velocities at the compressed region of the celiac artery and suggest the diagnosis of celiac arterial constriction due to the diaphragmatic ligament. RID='''' ID='''' Correspondence to: A. Erden, M.D., Hafta sokak. 23/6, Gaziosmanpasa, 06700 Ankara, Turkey

  15. Association of the Serotonin Receptor 3E Gene as a Functional Variant in the MicroRNA-510 Target Site with Diarrhea Predominant Irritable Bowel Syndrome in Chinese Women

    OpenAIRE

    Zhang, Yu; Li, Yaoyao; Hao, Zhenfeng; Li, Xiangming; Bo, Ping; Gong, Weijuan

    2016-01-01

    Background/Aims The functional variant (rs56109847) in the 3′-untranslated regions (3′-UTR) of the serotonin receptor 3E (HTR3E) gene is associated with female diarrhea predominant irritable bowel syndrome (IBS-D) in British populations. However, the relationship of the polymorphism both to HTR3E expression in the intestine and to the occurrence of Chinese functional gastrointestinal disorders has yet to be examined. Methods Polymerase chain reaction amplification and restriction fragment len...

  16. Association of clinical androgen excess with radial artery intima media thickness in women with polycystic ovary syndrome.

    Science.gov (United States)

    Yilmaz, S A; Kebapcilar, A; Koplay, M; Kerimoglu, O S; Pekin, A T; Gencoglu, B; Dogan, N U; Celik, C

    2015-06-01

    This study explores the relationship between clinical cardiovascular risk factors and clinical androgen excess, with direct comparison to radial artery intima media thickness (rIMT). rIMT of 91 patients with polycystic ovary syndrome (PCOS) were compared with 72 healthy women. Patients were divided into three groups with regard to body mass index (BMI). Group1 = 56 women (31 controls and 25 PCOS) with low BMI(18-22.49 kg/m(2)), Group2 = 36 women (15 controls and 21 PCOS) with normal BMI (22.5-24.99 kg/m(2)) and Group3 = 71 women (26 controls and 45 PCOS) with high BMI (25-30 kg/m(2)). rIMT was significantly higher in patients with PCOS (p = 0.007). rIMT was significantly higher group1 and group3 in patients with PCOS compared to controls (p = 0.007 and p = 0.042, respectively). There was a significant positive association between rIMT levels and fT in women with PCOS in group1 (r = 0.24, p = 0.04). rIMT levels correlated to fT levels in women with PCOS in group3 (r = 0.32, p = 0.03). Modified Ferriman-Gallwey (mFG) scores demonstrated a positive association with free testosterone, total testosterone, free androgen index, waist circumference (WC), LH levels, insulin levels, Homeostasis Model Assessment index(HOMA-IR), rIMT and a negative correlation with sex hormone binding globulin in group1 and group2. mFG scores demonstrated a positive association with free testosterone (r = 0.33, p = 0.029) in group3, but no association was found between mFG and WC, HOMA-IR in group3. Our findings indicate that clinical androgen excess may be associated with cardiovascular disease in patients with PCOS. PMID:26213862

  17. Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

    Directory of Open Access Journals (Sweden)

    María E. Teresa-Rodrigo

    2014-06-01

    Full Text Available Cornelia de Lange syndrome (CdLS is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21 or functionally associated factors (NIPBL, HDAC8 of the cohesin complex have been found in patients with CdLS. In about 60% of the patients, mutations in NIPBL could be identified. Interestingly, 17% of them are predicted to change normal splicing, however, detailed molecular investigations are often missing. Here, we report the first systematic study of the physiological splicing of the NIPBL gene, that would reveal the identification of four new splicing isoforms ΔE10, ΔE12, ΔE33,34, and B’. Furthermore, we have investigated nine mutations affecting splice-sites in the NIPBL gene identified in twelve CdLS patients. All mutations have been examined on the DNA and RNA level, as well as by in silico analyses. Although patients with mutations affecting NIPBL splicing show a broad clinical variability, the more severe phenotypes seem to be associated with aberrant transcripts resulting in a shift of the reading frame.

  18. Complicações arteriais da síndrome do desfiladeiro torácico Arterial complications of thoracic outlet syndrome

    Directory of Open Access Journals (Sweden)

    Fernando Thomazinho

    2008-06-01

    Full Text Available As manifestações clínicas da síndrome do desfiladeiro torácico são predominantemente neurológicas, sendo as complicações arteriais raras, mas potencialmente graves. Entre elas, devemos citar os aneurismas com complicações embólicas e a trombose. Os autores relatam o caso de uma mulher de 37 anos com costela cervical bilateral que apresentou embolia no membro superior direito originada de um aneurisma pós-estenótico da artéria subclávia direita, além de apresentar ectasia da subclávia esquerda também por compressão.The clinical manifestations of thoracic outlet syndrome are mainly neurological. Although arterial complications are rare, they are potentially severe. Among these are aneurysms associated with embolism and thrombosis. The authors report a case of a 37 year-old woman with bilateral cervical rib that developed embolism in the right upper limb from a poststenotic right subclavian artery aneurysm and dilatation of the left subclavian artery, both due to compression.

  19. Recognizing Wellens’ syndrome, a warning sign of critical proximal LAD artery stenosis and impending anterior myocardial infarction

    Directory of Open Access Journals (Sweden)

    Laura Hollar

    2015-10-01

    Full Text Available Wellens’ syndrome, also known as LAD coronary T-wave syndrome or the ‘widow maker’, is a pre-infarction syndrome with non-classical ischemic ECG changes and unremarkable cardiac biomarkers. This syndrome continues to be a ‘can't miss’ for the clinician as delay in urgent angiography and intervention can result in anterior myocardial infarction, left ventricular dysfunction, arrhythmias, and death. We describe a case followed by a discussion of identification criteria and clinical implications.

  20. Norepinephrine transporter variant A457P knock-in mice display key features of human postural orthostatic tachycardia syndrome

    Directory of Open Access Journals (Sweden)

    Jana K. Shirey-Rice

    2013-07-01

    Postural orthostatic tachycardia syndrome (POTS is a common autonomic disorder of largely unknown etiology that presents with sustained tachycardia on standing, syncope and elevated norepinephrine spillover. Some individuals with POTS experience anxiety, depression and cognitive dysfunction. Previously, we identified a mutation, A457P, in the norepinephrine (NE; also known as noradrenaline transporter (NET; encoded by SLC6A2 in POTS patients. NET is expressed at presynaptic sites in NE neurons and plays a crucial role in regulating NE signaling and homeostasis through NE reuptake into noradrenergic nerve terminals. Our in vitro studies demonstrate that A457P reduces both NET surface trafficking and NE transport and exerts a dominant-negative impact on wild-type NET proteins. Here we report the generation and characterization of NET A457P mice, demonstrating the ability of A457P to drive the POTS phenotype and behaviors that are consistent with reported comorbidities. Mice carrying one A457P allele (NET+/P exhibited reduced brain and sympathetic NE transport levels compared with wild-type (NET+/+ mice, whereas transport activity in mice carrying two A457P alleles (NETP/P was nearly abolished. NET+/P and NETP/P mice exhibited elevations in plasma and urine NE levels, reduced 3,4-dihydroxyphenylglycol (DHPG, and reduced DHPG:NE ratios, consistent with a decrease in sympathetic nerve terminal NE reuptake. Radiotelemetry in unanesthetized mice revealed tachycardia in NET+/P mice without a change in blood pressure or baroreceptor sensitivity, consistent with studies of human NET A457P carriers. NET+/P mice also demonstrated behavioral changes consistent with CNS NET dysfunction. Our findings support that NET dysfunction is sufficient to produce a POTS phenotype and introduces the first genetic model suitable for more detailed mechanistic studies of the disorder and its comorbidities.

  1. Study on the influence of adiponectin genetic variants and adiponectin levels among Indonesian women with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Bertha Pangaribuan

    2012-05-01

    Full Text Available Background: Insulin resistance and central adiposity are frequent disorders in PCOS women, which are marked by biological marker dysregulation related to this metabolic abnormalities. Association between adiponectin and insulin resistance has been investigated in many studies, while only a few studies were done in PCOS patients. This study is to determine the association of T45G polymorphisms in Indonesian population with PCOS biological markers and their influence to adiponectin serum.Methods: Fifty-two PCOS patients and 52 normal ovulatory women without hyperandrogenism as control subjects were included. Blood samples were collected between day 3 and 5 of a spontaneous menstrual cycle at 7 to 9 am, after overnight fasting. Serum levels of FSH, LH, testosterone, SHBG, glucose, insulin, lipid profile and adiponectin were measured. Insulin resistance was estimated by HOMA-IR, HOMA-β, and SHBG. T45G gene polymorphisms were determined by PCR after genomic DNA was obtained from peripheral blood of patients and control subjects.Results: There were significant difference between PCOS and control group in term of BMI, LH, testosterone, SHBG, and FAI, but not significant to T45G gene polymorphisms frequency distribution. Adiponectin levels were lower in PCOS patients than control. There was an association between insulin resistance with PCOS. Among PCOS patients, no association between adiponectin LH, testosterone, SHBG, and FAI with T45G gene polymorphisms. T45G gene polymorphisms were more frequent in PCOS with low adiponectin levels compared to those with high adiponectin levels, although not significant statistically.Conclusion: T45G gene polymorphisms has no direct association with PCOS biological markers, but its association with adiponectin needs further study. (Med J Indones. 2012;21:83-91Keywords: Adiponectin, insulin resistance, polycystic ovary syndrome, T45G adiponectin gene

  2. Síndromes coronarianas agudas na ausência de doença arterial coronariana significativa Acute coronary syndromes in the absence of significant coronary artery disease

    OpenAIRE

    Maria das Graças Viana Pinheiro; Alvaro Rabelo Jr.; Rogerio Santos de Jesus; Luciana Cunha Nascimento; Ursula Maria Moreira Costa

    2005-01-01

    OBJETIVO: Avaliar as características clínicas, a evolução e as complicações intra-hospitalares de pacientes com síndromes coronarianas agudas (SCA) na ausência de doença arterial coronariana (DAC) obstrutiva significativa. MÉTODOS: Estudo transversal envolvendo pacientes internados, de agosto/96 a março/02, com síndromes coronarianas agudas, com e sem supradesnivelamento ST, analisando as características clinicas, demográficas e complicações intra-hospitalares nos casos com (>50%) e sem (< 50...

  3. Comparison of the TIMI and the GRACE risk scores with the extent of coronary artery disease in patients with non-ST-elevation acute coronary syndrome

    International Nuclear Information System (INIS)

    Objective: To compare the accuracy of the Global Registry of Acute Coronary Events risk score and the Thrombolysis In Myocardial Infarction risk score in predicting the extent of coronary artery disease in patients with non-ST segment elevation acute coronary syndrome. Methods: The cross-sectional study comprising 406 consecutive patients was conducted at the National Institute of Cardiovascular Diseases, Karachi, from August 2010 to March 2011. For all patients, the GRACE and TIMI RS's relevant scores on the two indices were calculated on admission using specified variables. The patients underwent coronary angiography to determine the extent of the disease. A significant level was defined as >70% stenosis in any major epicardial artery or >50% stenosis in the left main coronary artery. SPSS 19 was used for statistical analysis. Results: Both the indices showed good predictive value in identifying the extent of the disease. A Thrombolysis In Myocardial Infarction score >4 and Global Registry of Acute Coronary Events score >133 was significantly associated with 3vessel disease and left main disease, while for the former score <4 and latter score <133 was associated with normal or non-obstructive coronary disease (p<0.01). On comparison of the two risk scores, the discriminatory accuracy of the latter was significantly superior to the former in predicting 2vessel, 3vessel and left main diseases (p<0.05). Conclusion: Although both the indices were helpful in predicting the extent of the disease, the Global Registry showed better performance and was more strongly associated with multi-vessel and left main coronary artery disease. (author)

  4. A prospective cohort study of the long-term effects of CPAP on carotid artery intima-media thickness in Obstructive sleep apnea syndrome

    Directory of Open Access Journals (Sweden)

    Hui David S

    2012-03-01

    Full Text Available Abstract Objective To examine the long-term effect of CPAP on carotid artery intima-media thickness (IMT in patients with Obstructive sleep apnea syndrome(OSAS. Methods A prospective observational study over 12 months at a teaching hospital on 50 patients newly diagnosed with OSAS who received CPAP or conservative treatment (CT. Carotid IMT was assessed with B-mode Doppler ultrasound from both carotid arteries using images of the far wall of the distal 10 mm of the common carotid arteries at baseline, 6 months and 12 months. Measurements and results [mean (SE] Altogether 28 and 22 patients received CPAP and CT respectively without significant differences in age 48.8(1.8 vs 50.5(2.0yrs, BMI 28.2(0.7 vs 28.0(1.2kg/m2, ESS 13.1(0.7 vs 12.7(0.6, AHI 38(3 vs 39(3/hr, arousal index 29(2 vs 29(2/hr, minimum SaO2 75(2 vs 77(2% and existing co-morbidities. CPAP usage was 4.6(0.3 and 4.7(0.4hrs/night over 6 months and 1 year respectively. Carotid artery IMT at baseline, 6 months, and 12 months were 758(30, 721(20, and 705(20micron for the CPAP group versus 760(30, 770(30, and 778(30micron respectively for the CT group, p = 0.002. Among those free of cardiovascular disease(n = 24, the carotid artery IMT at baseline, 6 months and 12 months were 722(40, 691(40, and 659(30micron for the CPAP group (n = 12 with usage 4.5(0.7 and 4.7(0.7 hrs/night over 6 months and 12 months whereas the IMT data for the CT group(n = 12 were 660(20, 685(10, and 690(20micron respectively, p = 0.006. Conclusions Reduction of carotid artery IMT occurred mostly in the first 6 months and was sustained at 12 months in patients with reasonable CPAP compliance.

  5. Duplication of hepatic artery

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    Saeed Muhammad

    2001-01-01

    Full Text Available Background: The hepatic arterial anatomy is aberrant in almost 33-41% of individuals. The variant arterial anatomy recognized during routine cadaveric dissection offers great learning potential. Such findings provide an alternative perspective to view common morphology and its structural and functional importance. These impart the concept of patient individuality and subsequent individualization of medical and surgical therapies. Adequate knowledge of normal and abnormal arterial anatomy is essential for peripancreatic surgery and liver transplantation. Aims of the study: To report on hepatic artery variations observed in the dissecting room and to find out the macroscopic pattern of varied human hepatic arterial vascularization by cadaveric dissection. Patients and Methods: Twenty human cadavers of caucasian origin were dissected to study the source and topographic pattern of hepatic arterial supply. Results: Nineteen cadavers exhibited typical hepatic arterial supply from the celiac axis. Only one female body out of twenty cadavers exhibited a dual arterial supply to all parts of liver and gallbladder. One artery originated from the celiac axis whereas the other was given off by the superior mesenteric artery. Conclusion: No doubt, aberrant hepatic vascularization should be assessed preoperatively by invasive and noninvasive techniques to avoid fatal complications, but we favour careful dissection over angiography as a means of defining the arterial anatomy.

  6. Chemotherapy refractory testicular germ cell tumor is associated with a variant in Armadillo Repeat gene deleted in Velco-Cardio-Facial syndrome (ARVCF

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    ChunkitFung

    2012-12-01

    Full Text Available Introduction: There is evidence that inherited genetic variation affects both testicular germ cell tumor (TGCT treatment outcome and risks of late-complications arising from cisplatin-based chemotherapy. Using a candidate gene approach, we examined associations of three genes involved in the cisplatin metabolism pathway, GSTP1, COMT, and TPMT, with TGCT outcome and cisplatin-induced neurotoxicity. Material and Methods: Our study population includes a subset of patients (n=137 from a genome-wide association study at the University of Pennsylvania that evaluates inherited genetic susceptibility to TGCT. All patients in our study had at least one course of cisplatin-based chemotherapy with at least one year of follow up. A total of 90 markers in GSTP1, COMT and TPMT and their adjacent genomic regions (± 20 kb were analyzed for associations with refractory TGCT after first course of chemotherapy, progression-free survival (PFS, overall survival (OS, peripheral neuropathy, and ototoxicity. Results: After adjustment for multiple comparisons, one SNP, rs2073743, in the flanking region (± 20 kb of COMT was associated with refractory TGCT after initial chemotherapy. This SNP lies within the intron region of the Armadillo Repeat gene deleted in Velco-Cardio-Facial syndrome (ARVCF. The G allele of rs2073743 predisposed patients to refractory disease with a relative risk of 2.6 (95% CI 1.1, 6.3; P=0.03. Assuming recessive inheritance, patients with the GG genotype had 22.7 times higher risk (95% CI 3.3, 155.8; P=0.04 of developing refractory disease when compared to those with the GC or CC genotypes. We found no association of our candidate genes with peripheral neuropathy, ototoxicity, PFS and OS. Discussion: This is the first study to suggest that germline genetic variants of ARVCF may affect TGCT outcome. The result of this study is hypothesis generating and should be validated in future studies.

  7. Cellulase variants

    Energy Technology Data Exchange (ETDEWEB)

    Blazej, Robert; Toriello, Nicholas; Emrich, Charles; Cohen, Richard N.; Koppel, Nitzan

    2015-07-14

    This invention provides novel variant cellulolytic enzymes having improved activity and/or stability. In certain embodiments the variant cellulotyic enzymes comprise a glycoside hydrolase with or comprising a substitution at one or more positions corresponding to one or more of residues F64, A226, and/or E246 in Thermobifida fusca Cel9A enzyme. In certain embodiments the glycoside hydrolase is a variant of a family 9 glycoside hydrolase. In certain embodiments the glycoside hydrolase is a variant of a theme B family 9 glycoside hydrolase.

  8. Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.

    Directory of Open Access Journals (Sweden)

    Patrick Linsel-Nitschke

    Full Text Available BACKGROUND: Rare mutations of the low-density lipoprotein receptor gene (LDLR cause familial hypercholesterolemia, which increases the risk for coronary artery disease (CAD. Less is known about the implications of common genetic variation in the LDLR gene regarding the variability of cholesterol levels and risk of CAD. METHODS: Imputed genotype data at the LDLR locus on 1 644 individuals of a population-based sample were explored for association with LDL-C level. Replication of association with LDL-C level was sought for the most significant single nucleotide polymorphism (SNP within the LDLR gene in three European samples comprising 6 642 adults and 533 children. Association of this SNP with CAD was examined in six case-control studies involving more than 15 000 individuals. FINDINGS: Each copy of the minor T allele of SNP rs2228671 within LDLR (frequency 11% was related to a decrease of LDL-C levels by 0.19 mmol/L (95% confidence interval (CI [0.13-0.24] mmol/L, p = 1.5x10(-10. This association with LDL-C was uniformly found in children, men, and women of all samples studied. In parallel, the T allele of rs2228671 was associated with a significantly lower risk of CAD (Odds Ratio per copy of the T allele: 0.82, 95% CI [0.76-0.89], p = 2.1x10(-7. Adjustment for LDL-C levels by logistic regression or Mendelian Randomisation models abolished the significant association between rs2228671 with CAD completely, indicating a functional link between the genetic variant at the LDLR gene locus, change in LDL-C and risk of CAD. CONCLUSION: A common variant at the LDLR gene locus affects LDL-C levels and, thereby, the risk for CAD.

  9. Sick sinus syndrome

    Science.gov (United States)

    ... chambers is a common cause of sick sinus syndrome. Coronary artery disease , high blood pressure, and aortic and ... pressure may be normal or low. Sick sinus syndrome may cause symptoms of heart failure to start or get worse. Sick sinus ...

  10. Alu-alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ethlers-Danlos syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pousi, B.; Hautala, T.; Heikkinen, J.; Pajunen, L.; Kivirikko, K.I.; Myllylae, R. [Univ. of Oulu (Finland)

    1994-11-01

    The type VI variant of the Ethlers-Danlos syndrome (EDS) is a recessively inherited connective-tissue disorder. The characteristic features of the variant are muscular hyptonia, kyphoscoliosis, ocular manifestations, joint hypermobility, skin fragility and hyperextensibility, and other signs of connective-tissue involvement. The biochemical defect in most but not all patients is a deficiency in lysyl hydroxylase activity. Lysyl hydroxylase is an enzyme that catalyzes the formation of hydroxylysine in collagens and other proteins with collagen-like amino acid sequences. We have recently reported an apparently homozygous large-duplication rearrangement in the gene for lysyl hydroxylase, leading to the type VI variant of EDS in two siblings. We now report an identical, apparently homozygous large duplication in an unrelated 49-year-old female originally analyzed by Sussman et al. Our simple-sequence-repeat-polymorphism analysis does not support uniparental isodisomy inheritance for either of the two duplications. Furthermore, we indicate in this study that the duplication in the lysyl hydroxylase gene is caused by an Alu-Alu recombination in both families. Cloning of the junction fragment of the duplication has allowed synthesis of appropriate primers for rapid screening for this rearrangement in other families with the type VI variant of EDS. 38 refs., 6 figs.

  11. Revesz syndrome

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    Dayane Cristine Issaho

    2015-04-01

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

  12. Metabolic syndrome and dietary components are associated with coronary artery disease risk score in free-living adults: a cross-sectional study

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    Takahashi Mauro

    2011-05-01

    Full Text Available Abstract Background Coronary artery disease (CAD is among the main causes of death in developed countries, and diet and lifestyle can influence CAD incidence. Objective To evaluate the association of coronary artery disease risk score with dietary, anthropometric and biochemical components in adults clinically selected for a lifestyle modification program. Methods 362 adults (96 men, 266 women, 53.9 ± 9.4 years fulfilled the inclusion criteria by presenting all the required data. The Framingham score was calculated and the IV Brazilian Guideline on Dyslipidemia and Prevention of Atherosclerosis was adopted for classification of the CAD risks. Anthropometric assessments included waist circumference (WC, body fat and calculated BMI (kg/m2 and muscle-mass index (MMI kg/m2. Dietary intake was estimated through 24 h dietary recall. Fasting blood was used for biochemical analysis. Metabolic Syndrome (MS was diagnosed using NCEP-ATPIII (2001 criteria. Logistic regression was used to determine the odds of CAD risks according to the altered components of MS, dietary, anthropometric, and biochemical components. Results For a sample with a BMI 28.5 ± 5.0 kg/m2 the association with lower risk ( Conclusion Recommended intake of saturated fat and dietary fiber, together with proper muscle mass, are inversely associated with CAD risk score. On the other hand, the presence of MS and high plasma uric acid are associated with CAD risk score.

  13. Effect of continuous positive airway pressure treatment on serum adiponectin level and mean arterial pressure in male patients with obstructive sleep apnea syndrome

    Institute of Scientific and Technical Information of China (English)

    ZHANG Xi-long; YIN Kai-sheng; LI Chong; JIA En-zhi; LI Yan-qun; GAO Zhao-fang

    2007-01-01

    Background Recent research suggested that obstructive sleep apnea syndrome (OSAS) might be independently associated with hypoadiponectinemia, which was linked to some complications of OSAS, such as hypertension, diabetes,etc. This study was conducted to investigate the effect of continuous positive airway pressure (CPAP) treatment on changes of both serum adiponectin levels and mean arterial pressure and their possible links in male OSAS patients.Methods Twenty-three adult male patients with moderate-to-severe OSAS but without obesity, coronary heart disease and diabetes were recruited. Their blood sampleswere collected and moming mean arterial pressure (MAP) was measured before CPAP treatment and on day 3, 7, 14 of CPAP treatment respectively. The serum adiponectin concentration was tested with radioimmunoassay.Results Compared with the serum adiponectin level before CPAP treatment, no significant change was found in OSAS patients on day 3 and day 7 of CPAP treatment (P>0.05). It was not until day 14 of CPAP treatment did a significant elevation in serum adiponectin level occur (P<0.01). Meanwhile, the MAP showed no statistically significant difference among its levels before CPAP, on day 3 and day 7 of CPAP treatment (P>0.05). However, on day 14 of CPAP treatment,a significantly lower MAP than that obtained before treatment was observed (P<0.05).Conclusions CPAP treatment can gradually reverse hypoadiponectinemia and reduce MAP in OSAS patients.Hypoadiponectinemia might be involved in the pathogenesis of OSAS-mediated hypertension.

  14. Coronary Artery Bypass

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    Kadri Ceberut

    2011-01-01

    Full Text Available Ancient schwannoma is a rare variant of neural tumors though rarely seen in the thorax. The combination with coronary artery diseases is also rare. Here we describe a 66 year-old male who had undergone one-stage combined surgery for thoracic ancient schwannomas removal and coronary artery disease. The masses were, respectively, 13 cm in the middle mediastinum and 5 cm in diameter originating from the intercostal nerve. The tumors were successfully removed using sternotomy, and then a coronary artery bypass grafting was performed. Here we discuss this rare tumor in relation to the relevant literature.

  15. Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

    Science.gov (United States)

    Calcagni, Giulio; Baban, Anwar; De Luca, Enrica; Leonardi, Benedetta; Pongiglione, Giacomo; Digilio, Maria Cristina

    2016-03-01

    Noonan syndrome (NS) is the second most frequent hereditary syndrome with cardiac involvement. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most prevalent cardiovascular abnormalities. We report on a 14-year-old girl with NS due to SOS1 mutation with pulmonary stenosis and idiopathic coronary ectasia. To the best of our knowledge, this is the first report describing coronary ectasia in a patient with NS secondary to a SOS1 mutation. We include a literature review of this rare association. PMID:26686981

  16. Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery

    OpenAIRE

    Piro, E.; Piccione, M; Marrone, G; Giuffrè, M; G. Corsello

    2013-01-01

    Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood...

  17. Jeep variants

    CERN Document Server

    de Bondt, Michiel

    2010-01-01

    The jeep problem was first solved by O. Helmer and N.J. Fine. But not much later, C.G. Phipps formulated a more general solution. He formulated a so-called convoy or caravan variant of the jeep problem and reduced the original problem to it. The convoy idea of Phipps was refined in [3]. Here we will apply this refined idea to several variants of the jeep problem.

  18. Arterial Catheterization

    Science.gov (United States)

    ... version AMERICAN THORACIC SOCIETY Patient Information Series Arterial Catheterization An arterial catheter is a thin, hollow tube ... PHYSICIANS: AND COPY Why Do I Need Arterial Catheterization? Common reasons an arterial catheterization is done include: ■ ...

  19. Cerebellar arteries originating from the internal carotid artery: angiographic evaluation and embryologic explanations

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jae Young; Han, Moon Hee; Yu, In Gyu; Chang, Ki Hyun [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of); Kim, Eui Jong [Kyunghee Univ. College of Medicine, Seoul (Korea, Republic of); Kim, Dae Ho [Soonchunhyang Univ. College of Medicine, Asan(Korea, Republic of)

    1997-06-01

    To find and describe the cerebellar arteries arising from the internal carotid artery, explain them embryologically, and evaluate their clinical implication. To determine the point in the internal carotid artery from which the cereballar artery arose anomalously, consecutive angiographic studies performed in the last three years were reviewed. The distribution of such anomalous cerebellar arteries, the point in the internal carotid artery from which the anomalous vessels originated, and associated findings were analyzed. Five anomalous origins of cerebellar arteries arising arising directly from the internal carotid artery were found in five patients. Three anterior inferior cerebellar arteries (AICA) and one common trunk of an AICA and a posterior inferior cerebellar artery (PICA) were found to originate from the internal carotid artery at a point close to the origin of the primitive trigeminal artery. A PICA arose from an artery presenting a course similar to the proatlantal intersegmental artery. Intracranial aneurysms in two patients, Moyamoya disease in one, and facial arteriovenous malformation in one. In our series, AICAs supplied from the arteries considered to be persistent trigeminal artery variants were the most common type. A correlation between type of anomalous cerebellar artery and type of carotid-vertebrobasilar anastomosis may exist. Cerebellar arteries originating anomalously from the internal carotid artery seem to occur as a result of the persistence of carotid-vertebrobasilar anastomoses associated with incomplete fusion of the longitudinal neural arteries. An understanding of these anomalous cerebellar arteries may help prevent accidents during therapeutic embolization and surgical treatment, as well as misinterpretation.

  20. CLINICAL IMPORTANCE OF ENDOTHELIAL DYSFUNCTION AND INSULIN RESISTANCE SYNDROME IN PATIENTS WITH GOUT ASSOCIATED WITH ARTERIAL HYPERTENSION

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    N. N. Kushnarenko

    2015-09-01

    Full Text Available Aim. To study the endothelium status and determine the correlation between endothelial dysfunction and glucose metabolism in men with gout associated with arterial hypertension (HT.Material and methods. Patients (n=175, all are males with gout were enrolled into the study. Ambulatory blood pressure monitoring (ABPM was performed in all patients. Endothelial function was studied in tests with reactive hyperemia (endothelium-dependent reaction and nitroglycerin (endothelium independent reaction in brachial artery by ultrasonic Doppler examination. The level of nitrite-nitrate and endothelin-1 in blood serum was determined by ELISA technique. Fasting blood glucose and oral glucose tolerance tests were performed as well as fasting insulin blood level was determined by immunoenzyme method. Insulin-resistance index (HOMA-IR was calculated. Patients with HOMA- IR>2.77 were considered as insulin-resistant.Results. Patients with gout demonstrated endothelial deterioration associated with activation of nitroxid producing function, elevation in endothelin-1 serum level (1.36 fmol/ml [0.91; 2.32 fmol/ml] vs 0.19 fmol/ml [0.16; 0.27 fmol/ml] in controls, p<0.05 and impairments of endothelium-dependent vasodilation (6.4% [3.3; 7.3%] vs 17.8% [12.7; 23.9%] in controls, p<0.05. The revealed changes were the most marked in patients with gout associated with HT. The correlation between some endothelial dysfunction in- dices and glucose metabolism was observed.Conclusion. ABPM, brachial artery endothelium-dependent vasodilation and glucose metabolism status should be studied in patients with gout. Complex treatment of cardiovascular diseases in patients with gout should include ω-3 polyunsaturated fatty acids, angiotensin receptor antagonists should be used for antihypertensive therapy.

  1. Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome

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    Piccoli Giorgina

    2012-02-01

    Full Text Available Abstract Background MELAS syndrome (MIM ID#540000, an acronym for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with protean manifestations and occasional kidney involvement. Interest in the latter is rising due to the identification of cases with predominant kidney involvement and to the hypothesis of a link between mitochondrial DNA and kidney neoplasia. Case presentation We report the case of a 41-year-old male with full blown MELAS syndrome, with lactic acidosis and neurological impairment, affected by the "classic" 3243A > G mutation of mitochondrial DNA, with kidney cancer. After unilateral nephrectomy, he rapidly developed severe kidney functional impairment, with nephrotic proteinuria. Analysis of the kidney tissue at a distance from the two tumor lesions, sampled at the time of nephrectomy was performed in the context of normal blood pressure, recent onset of diabetes and before the appearance of proteinuria. The morphological examination revealed a widespread interstitial fibrosis with dense inflammatory infiltrate and tubular atrophy, mostly with thyroidization pattern. Vascular lesions were prominent: large vessels displayed marked intimal fibrosis and arterioles had hyaline deposits typical of hyaline arteriolosclerosis. These severe vascular lesions explained the different glomerular alterations including ischemic and obsolescent glomeruli, as is commonly observed in the so-called "benign" arteriolonephrosclerosis. Some rare glomeruli showed focal segmental glomerulosclerosis; as the patient subsequently developed nephrotic syndrome, these lesions suggest that silent ischemic changes may result in the development of focal segmental glomerulosclerosis secondary to nephron loss. Conclusions Nephron loss may trigger glomerular sclerosis, at least in some cases of MELAS-related nephropathy. Thus the incidence of kidney disease in the "survivors" of MELAS

  2. Common variants in CASP3 confer susceptibility to Kawasaki disease

    Science.gov (United States)

    Onouchi, Yoshihiro; Ozaki, Kouichi; Buns, Jane C.; Shimizu, Chisato; Hamada, Hiromichi; Honda, Takafumi; Terai, Masaru; Honda, Akihito; Takeuchi, Takashi; Shibuta, Shoichi; Suenaga, Tomohiro; Suzuki, Hiroyuki; Higashi, Kouji; Yasukawa, Kumi; Suzuki, Yoichi; Sasago, Kumiko; Kemmotsu, Yasushi; Takatsuki, Shinichi; Saji, Tsutomu; Yoshikawa, Tetsushi; Nagai, Toshiro; Hamamoto, Kunihiro; Kishi, Fumio; Ouchi, Kazunobu; Sato, Yoshitake; Newburger, Jane W.; Baker, Annette L.; Shulman, Stanford T.; Rowley, Anne H.; Yashiro, Mayumi; Nakamura, Yoshikazu; Wakui, Keiko; Fukushima, Yoshimitsu; Fujino, Akihiro; Tsunoda, Tatsuhiko; Kawasaki, Tomisaku; Hata, Akira; Nakamura, Yusuke; Tanaka, Toshihiro

    2010-01-01

    Kawasaki disease (KD; OMIM 611775) is an acute vasculitis syndrome which predominantly affects small- and medium-sized arteries of infants and children. Epidemiological data suggest that host genetics underlie the disease pathogenesis. Here we report that multiple variants in the caspase-3 gene (CASP3) that are in linkage disequilibrium confer susceptibility to KD in both Japanese and US subjects of European ancestry. We found that a G to A substitution of one commonly associated SNP located in the 5′ untranslated region of CASP3 (rs72689236; P = 4.2 × 10−8 in the Japanese and P = 3.7 × 10−3 in the European Americans) abolished binding of nuclear factor of activated T cells to the DNA sequence surrounding the SNP. Our findings suggest that altered CASP3 expression in immune effecter cells influences susceptibility to KD. PMID:20423928

  3. Challenges in predicting the need for coronary artery bypass grafting at presentation in patients with non-ST-segment elevation acute coronary syndromes.

    Science.gov (United States)

    Mehta, Rajendra H; Chen, Anita Y; Pollack, Charles V; Roe, Matthew T; Zalenski, Robert J; Clements, Elizabeth A; Gibler, W Brian; Ohman, E Magnus; Harrington, Robert A; Peterson, Eric D

    2006-09-01

    In the case of non-ST-segment elevation acute coronary syndromes (NSTE-ACSs), the acute use of certain antiplatelet agents is complicated by concerns about perioperative bleeding risks in patients requiring coronary artery bypass grafting (CABG) during the index hospitalization. As a result, clinicians often withhold potentially useful agents, such as clopidogrel, before determining patients' coronary anatomy. An accurate predictive model could allow for a better balance of this safety concern with the demonstrated benefits of agents such as clopidogrel. To create an accurate decision-making tool that would assess, at hospital presentation, the need for CABG in patients with NSTE-ACSs, we studied 61,974 high-risk patients with NSTE-ACS admitted to 311 CABG-capable hospitals participating in Can Rapid Risk Stratification of Unstable Angina Patients Suppress Adverse Outcomes With Early Implementation of the American College of Cardiology/American Heart Association Guidelines (CRUSADE) from 2001 to 2003. A total of 8,395 patients (14%) underwent CABG during their initial hospital stay. A multivariate model was developed and identified 13 presenting clinical characteristics significantly associated with the likelihood of CABG (previous CABG, male gender, previous heart failure, diabetes, hyperlipidemia, renal insufficiency, ST depression and transient ST elevation, age > or = 75 years, previous percutaneous coronary intervention, family history of coronary artery disease, hypertension, trends in CABG rates, and previous stroke). This model had only modest predictive accuracy and calibration (c-index = 0.67). In conclusion, although certain presenting clinical features are associated with an increased likelihood of CABG in patients with NSTE-ACSs during the index hospitalization, it remains difficult to reliably identify, before diagnostic angiography, those who will subsequently undergo surgical revascularization. PMID:16923449

  4. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

    DEFF Research Database (Denmark)

    Bezzina, Connie; Barc, Julien; Mizusawa, Yuka;

    2013-01-01

    Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases. Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) a...

  5. Increased burden and severity of metabolic syndrome and arterial stiffness in treatment naïve HIV+ patients from Cameroon

    Directory of Open Access Journals (Sweden)

    Ngatchou W

    2013-09-01

    Full Text Available William Ngatchou,1 Daniel Lemogoum,1 Pierre Ndobo,2,† Euloge Yagnigni,2 Emiline Tiogou,2 Elisabeth Nga,2 Charles Kouanfack,2 Philippe van de Borne,1 Michel P Hermans3 1Hypertension Clinic, Erasme University Hospital, Brussels, Belgium; 2Department of Cardiology, Central Hospital, Yaoundé, Cameroon; 3Department of Endocrinology and Nutrition, Cliniques Universitaires St-Luc, Brussels, Belgium †Professor Pierre Ndobo passed away on January 21, 2013 Background: Human immunodeficiency virus (HIV and its therapy are associated with increased aortic stiffness and metabolic syndrome (MetS phenotype in Caucasian patients. We hypothesized that, independently of antiretroviral therapy, HIV infection in native black African patients is associated with increased burden of cardiometabolic risk factors that may accelerate arterial structural damage and translate into increased aortic stiffness. Patients and methods: Ninety-six apparently healthy Cameroonian subjects (controls were compared to 108 untreated Cameroonian HIV+ patients (HIV-UT of similar age. In each participant, pulse wave velocity (Complior, aortic augmentation index (SphygmoCor, brachial blood pressure (Omron 705 IT, fasting plasma glucose (FPG, and lipids were recorded, as well as the prevalence and severity of MetS, based on the American Heart Association/National Heart, Lung, and Blood Institute score ≥3/5. Results: Prevalence of impaired fasting glucose (FPG 100–125 mg · dL-1 and of diabetes (FPG > 125 mg · dL-1 was higher in HIV-UT than in controls (47% versus 27%, and 26% versus 1%, respectively; both P < 0.01. Fasting triglycerides and the atherogenic dyslipidemia ratio were significantly higher in HIV-UT than in controls. Hypertension prevalence was high and comparable in both groups (41% versus 44%, respectively; not significant. HIV-UT patients exhibited a twice-higher prevalence of MetS than controls (47% versus 21%; P = 0.02. Age- and sex-adjusted pulse wave velocity was

  6. Reduction of internal carotid artery intima-media thickness in patients with moderate-to-severe obstructive sleep apnea syndrome after nasal surgery and uvulopalatopharyngoplasty.

    Science.gov (United States)

    Peng, Yikun; Zhang, Liangchun; Hu, Defeng; Dai, Yubing; Wang, Shuhui; Liao, Hongyong; Xiong, Yan

    2016-05-01

    Conclusion Multi-level surgeries for the nasal cavity and palate can reduce the severity of obstructive sleep apnea with major narrowing above the retropalatal airway and reduce the carotid intima-media thickness, which can provide cardiovascular benefits to patients. Objective To evaluate the outcomes of moderate-to-severe obstructive sleep apnea syndrome by surgeries and the change of internal carotid artery intima-media thickness after surgeries. Subjects and methods Sixty-four patients with obstructive sleep apnea, narrowing at the nasal cavity, and retropalatal airways were enrolled in this study. Fifty-two patients underwent nasal surgery and modified uvulopalatopharyngoplasty. Twelve patients who refused surgeries and continuous positive airway pressure treatment received only conservative treatment. All patients were evaluated within 1 month before and 6 months after treatment using polysomnography, upper airway endoscopy, and B mode ultrasound. Results The success rate was 61.5% (32/52 patients) in the surgery group. There were significant differences between the surgery group and non-surgery group 6 months after treatment in the apnea hypopnea index, minimum and mean oxygen saturation, blood pressure, triglyceride, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and internal Carotid intima-media thickness. The changes in the oxygen saturation and the apnea hypopnea index showed significant correlations with the changes in the intima-media thickness. PMID:26824298

  7. Contemporary Management of Coronary Artery Disease and Acute Coronary Syndrome in Patients with Chronic Kidney Disease and End-Stage Renal Disease

    Science.gov (United States)

    Huang, Chin-Chou; Chen, Jaw-Wen

    2013-01-01

    Chronic kidney disease (CKD) and end-stage renal disease (ESRD) have emerged as a worldwide public health problem. Due to the remarkably higher incidence and prevalence of this chronic disease in Taiwan than in other countries, CKD/ESRD has contributed to a significant health burden in Taiwan. Patients with CKD/ESRD have an increased risk of coronary artery disease (CAD) and acute coronary syndrome (ACS) compared to the normal population. Patients with ACS alone can present differently than patients with ACS and CKD/ESRD. Also, due to the lower prevalence of chest pain and ST-segment elevation, CKD/ESRD patients were more difficult to diagnose than other patients. Furthermore, whether advances in ACS management with medical therapy and an early invasive approach could improve patient outcomes with CKD/ESRD is not known. The use of antiplatelets such as aspirin and other antithrombotic agents might reduce the incidence of ACS or stroke in CKD patients. However, such use could also increase bleeding risk and even increase the likelihood of mortality, especially in dialysis patients. While recent clinical data suggest the potential benefit of aggressive management with coronary intervention for CAD and ACS in this category of patients, further clinical studies are still indicated for the proper medical strategy and revascularization therapy to improve the outcomes of CAD and ACS in CKD/ESRD patients, both in Taiwan and worldwide. PMID:27122697

  8. Association of genetic variants of ghrelin, leptin and UCP2 with malnutrition inflammation syndrome and survival in end-stage renal disease patients

    OpenAIRE

    Sharma, Richa; Agrawal, Suraksha; Saxena, Anita; Pandey, Manmohan; Sharma, R K

    2013-01-01

    Malnutrition inflammation syndrome (MIS) is common among ESRD patients. In the present study, we have investigated the association of genetic markers associated with appetite and energy regulation with malnutrition inflammation syndrome among end-stage renal disease (ESRD) patients. Two hundred and fifty-seven patients on maintenance hemodialysis and 200 normal healthy controls were included in the study. Nutritional assessment was done by subjective global assessment scores (SGA). Genotyping...

  9. Childhood Ataxia with Cerebral Hypomyelination Syndrome: a Variant of Patient with Early Childhood Onset Related to EIF2B3 Mutation. A Case Report.

    Science.gov (United States)

    Perfetto, F; Stoppino, L P; Calì, A; Milillo, P; Grilli, G; Vinci, R; Macarini, L

    2012-03-01

    Childhood ataxia with central nervous system hypomyelination (CACH) syndrome is an autosomal recessive transmitted leukodystrophy characterised by early childhood onset and acute deterioration following febrile illnesses or head trauma. We describe the case of a child with early onset of CACH syndrome. He presented with cerebellar ataxia beginning around two years of age with mild mental retardation. MRI showed diffuse white matter signal changes with thinning of the corpus callosum. PMID:24028880

  10. GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

    Science.gov (United States)

    Lee, Jin Sook; Yoo, Yongjin; Lim, Byung Chan; Kim, Ki Joong; Song, Junghan; Choi, Murim; Chae, Jong-Hee

    2016-08-01

    There have been a few reports of GM3 synthase deficiency since the disease of the ganglioside biosynthetic pathway was first reported in 2004. It is characterized by infantile-onset epilepsy with severe intellectual disability, blindness, cutaneous dyspigmentation, and choreoathetosis. Here we report the cases of two Korean female siblings with ST3GAL5 variants, who presented with a Rett-like phenotype. They had delayed speech, hand stereotypies with a loss of purposeful hand movements, and choreoathetosis, but no clinical seizures. One of them had microcephaly, while the other had small head circumference less than 10th centile. There were no abnormal laboratory findings with the exception of a high lactate level. MECP2/CDKL5/FOXG1 genetic tests with an array comparative genomic hybridization revealed no molecular defects. Through whole-exome sequencing of the proband, we found compound heterozygous ST3GAL5 variants (p.Gly201Arg and p.Cys195Ser), both of which were novel. The siblings were the same compound heterozygotes and their unaffected parents were heterozygous carriers of each variant. Liquid chromatography-mass spectrometry analysis confirmed a low level of GM3 and its downstream metabolites, indicating GM3 synthase deficiency. These cases expanded the clinical and genetic spectrum of the ultra-rare disease, GM3 synthase deficiency with ST3GAL5 variants. © 2016 Wiley Periodicals, Inc. PMID:27232954

  11. Oral-facial-digital syndrome with mesoaxial polysyndactyly, common AV canal, hirschsprung disease and sacral dysgenesis: Probably a transitional type between II, VI, variant of type VI or a new type

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2014-07-01

    Full Text Available We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguineous parents who has many typical features of oral-facial-digital syndrome type VI (OFDS VI including hypertelorism, bilateral convergent squint, depressed nasal bridge, and wide upturned nares, low set posteriorly rotated ears, long philtrum, gum hyperplasia with notches of the alveolar borders, high arched palate, and hyperplastic oral frenula. He has mesoaxial and postaxial, polysyndactyly which is the specific feature of OFDS VI, however the cerebellum is normal on MRI brain. He has also some rare congenital anomalies including common atrioventricular canal, hirschsprung disease, and sacral dysgenesis. This patient may have a transitional type between II and VI, a variant of type VI or a new type.

  12. Arterial stick

    Science.gov (United States)

    ... the main arteries in the forearm (radial and ulnar arteries). The procedure is done as follows: The ... Arteries also have thicker walls and have more nerves. When the needle is inserted, there may be ...

  13. Single vs double antiplatelet therapy in acute coronary syndrome: Predictors of bleeding after coronary artery bypass grafting

    Institute of Scientific and Technical Information of China (English)

    Vincenzo; Tarzia; Giacomo; Bortolussi; Edward; Buratto; Carla; Paolini; Carlo; Dal; Lin; Giulio; Rizzoli; Tomaso; Bottio; Gino; Gerosa

    2015-01-01

    AIM:To investigate the contribution of anti-platelet therapy and derangements of pre-operative classical coagulation and thromboelastometry parameters to major bleeding post-coronary artery bypass grafting(CABG).METHODS:Two groups of CABG patients were studied:Group A,treated with aspirin alone(n=50),and Group B treated with aspirin and clopidogrel(n=50).Both had similar preoperative,clinical,biologic characteristics and operative management.Classic coagulation parameters and rotational thromboelastometry(ROTEM)profiles were determined preoperatively for both groups and the same heparin treatment was administered.ROTEM profiles(INTEM and EXTEM assays)were analyzed,both for traditional parameters,and thrombin generation potential,expressed by area-under-curve(AUC).RESULTS:There was no significant difference betweenrates of major bleeding between patients treated with aspirin alone,compared with those treated with aspirin and clopidogrel(12%vs 16%,P=0.77).In the 14 cases of major bleeding,pre-operative classic coagulation and traditional ROTEM parameters were comparable.Conversely we observed that the AUC in the EXTEM test was significantly lower in bleeders(5030±1115 Ohm*min)than non-bleeders(6568±548Ohm*min)(P<0.0001).CONCLUSION:We observed that patients with a low AUC value were at a significantly higher risk of bleeding compared to patients with higher AUC,regardless of antiplatelet treatment.This suggests that thrombin generation potential,irrespective of the degree of platelet inhibition,correlates with surgical bleeding.

  14. The Ratio of Partial Pressure Arterial Oxygen and Fraction of Inspired Oxygen 1 Day After Acute Respiratory Distress Syndrome Onset Can Predict the Outcomes of Involving Patients.

    Science.gov (United States)

    Lai, Chih-Cheng; Sung, Mei-I; Liu, Hsiao-Hua; Chen, Chin-Ming; Chiang, Shyh-Ren; Liu, Wei-Lun; Chao, Chien-Ming; Ho, Chung-Han; Weng, Shih-Feng; Hsing, Shu-Chen; Cheng, Kuo-Chen

    2016-04-01

    The initial hypoxemic level of acute respiratory distress syndrome (ARDS) defined according to Berlin definition might not be the optimal predictor for prognosis. We aimed to determine the predictive validity of the stabilized ratio of partial pressure arterial oxygen and fraction of inspired oxygen (PaO2/FiO2 ratio) following standard ventilator setting in the prognosis of patients with ARDS.This prospective observational study was conducted in a single tertiary medical center in Taiwan and compared the stabilized PaO2/FiO2 ratio (Day 1) following standard ventilator settings and the PaO2/FiO2 ratio on the day patients met ARDS Berlin criteria (Day 0). Patients admitted to intensive care units and in accordance with the Berlin criteria for ARDS were collected between December 1, 2012 and May 31, 2015. Main outcome was 28-day mortality. Arterial blood gas and ventilator setting on Days 0 and 1 were obtained.A total of 238 patients met the Berlin criteria for ARDS were enrolled, and they were classified as mild (n = 50), moderate (n = 125), and severe (n = 63) ARDS, respectively. Twelve (5%) patients who originally were classified as ARDS did not continually meet the Berlin definition, and a total of 134 (56%) patients had the changes regarding the severity of ARDS from Day 0 to Day 1. The 28-day mortality rate was 49.1%, and multivariate analysis identified age, PaO2/FiO2 on Day 1, number of organ failures, and positive fluid balance within 5 days as significant risk factors of death. Moreover, the area under receiver-operating curve for mortality prediction using PaO2/FiO2 on Day 1 was significant higher than that on Day 0 (P = 0.016).PaO2/FiO2 ratio on Day 1 after applying mechanical ventilator is a better predictor of outcomes in patients with ARDS than those on Day 0. PMID:27057912

  15. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

    Science.gov (United States)

    Mackenroth, Luisa; Fischer-Zirnsak, Björn; Egerer, Johannes; Hecht, Jochen; Kallinich, Tilmann; Stenzel, Werner; Spors, Birgit; von Moers, Arpad; Mundlos, Stefan; Kornak, Uwe; Gerhold, Kerstin; Horn, Denise

    2016-04-01

    Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are variable genetic disorders that overlap in different ways [Cole 1993; Grahame 1999]. Here, we describe a boy presenting with severe muscular hypotonia, multiple fractures, and joint hyperflexibility, features that are compatible with mild OI and hypermobility type EDS, respectively. By whole exome sequencing, we identified both a COL1A1 mutation (c.4006-1G > A) inherited from the patient's mildly affected mother and biallelic missense variants in TNXB (p.Val1213Ile, p.Gly2592Ser). Analysis of cDNA showed that the COL1A1 splice site mutation led to intron retention causing a frameshift (p.Phe1336Valfs*72). Type 1 collagen secretion by the patient's skin fibroblasts was reduced. Immunostaining of a muscle biopsy obtained from the patient revealed a clear reduction of tenascin-X in the extracellular matrix compared to a healthy control. These findings imply that the combination of the COL1A1 mutation with the TNXB variants might cause the patient's unique phenotype. PMID:26799614

  16. Coronary Artery Manifestations of Fibromuscular Dysplasia

    OpenAIRE

    Michelis, Katherine C.; Olin, Jeffrey W.; Kadian-Dodov, Daniella; D’Escamard, Valentina; Kovacic, Jason C.

    2014-01-01

    Fibromuscular dysplasia (FMD) involving the coronary arteries is an uncommon but important condition that can present as acute coronary syndrome, left ventricular dysfunction, or potentially sudden cardiac death. Although the classic angiographic “string of beads” that may be observed in renal artery FMD does not occur in coronary arteries, potential manifestations include spontaneous coronary artery dissection, distal tapering or long, smooth narrowing that may represent dissection, intramur...

  17. Arterial blood pressure but not serum albumin concentration correlates with ADC ratio values in pediatric posterior reversible encephalopathy syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Furtado, Andre; Zuccoli, Giulio [Section of Neuroradiology Children' s Hospital of Pittsburgh of UPMC, Department of Radiology, Pittsburgh, PA (United States); Hsu, Ariel [University of Pittsburgh Medical Center, Department of Radiology, Pittsburgh, PA (United States); La Colla, Luca [University of Parma, Department of Anesthesiology, Parma (Italy)

    2015-07-15

    Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiological entity affecting both adults and children characterized by neurotoxicity often in setting of hypertension coupled with distinct brain magnetic resonance imaging features. Decreased serum albumin level has been suggested to correlate with the presence of vasogenic brain edema in adult PRES. Serum albumin has thus been hypothesized to protect against neurotoxicity in PRES by reducing vasogenic brain edema through its role in maintaining plasma osmotic pressure and endothelial integrity. The purpose of our study was to investigate if such correlation between decreased serum albumin level and PRES-related vasogenic edema could be found in children. We conducted a retrospective study of 25 pediatric patients diagnosed with PRES. Underlying clinical conditions, presenting symptoms, blood pressures, and serum albumin levels at onset of symptoms were collected. Brain MR imaging studies were reviewed. We used a quantitative method to evaluate the degree of vasogenic edema by measuring apparent diffusion coefficient (ADC) values of the T2-FLAIR hyperintense brain lesions. No significant correlation was found between serum albumin level and degree of PRES-related vasogenic edema. A significant correlation was found between elevated blood pressure and degree of vasogenic edema in the temporal lobes (p = 0.02 and 0.04, respectively) but not in the other cerebral lobes or cerebellum. Our initial results suggest blood pressure, not serum albumin level, as a main biomarker for brain edema in children with PRES. Thus, our study does not suggest a protective role of serum albumin against PRES-related neurotoxicity in children. (orig.)

  18. Arterial blood pressure but not serum albumin concentration correlates with ADC ratio values in pediatric posterior reversible encephalopathy syndrome

    International Nuclear Information System (INIS)

    Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiological entity affecting both adults and children characterized by neurotoxicity often in setting of hypertension coupled with distinct brain magnetic resonance imaging features. Decreased serum albumin level has been suggested to correlate with the presence of vasogenic brain edema in adult PRES. Serum albumin has thus been hypothesized to protect against neurotoxicity in PRES by reducing vasogenic brain edema through its role in maintaining plasma osmotic pressure and endothelial integrity. The purpose of our study was to investigate if such correlation between decreased serum albumin level and PRES-related vasogenic edema could be found in children. We conducted a retrospective study of 25 pediatric patients diagnosed with PRES. Underlying clinical conditions, presenting symptoms, blood pressures, and serum albumin levels at onset of symptoms were collected. Brain MR imaging studies were reviewed. We used a quantitative method to evaluate the degree of vasogenic edema by measuring apparent diffusion coefficient (ADC) values of the T2-FLAIR hyperintense brain lesions. No significant correlation was found between serum albumin level and degree of PRES-related vasogenic edema. A significant correlation was found between elevated blood pressure and degree of vasogenic edema in the temporal lobes (p = 0.02 and 0.04, respectively) but not in the other cerebral lobes or cerebellum. Our initial results suggest blood pressure, not serum albumin level, as a main biomarker for brain edema in children with PRES. Thus, our study does not suggest a protective role of serum albumin against PRES-related neurotoxicity in children. (orig.)

  19. A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants

    DEFF Research Database (Denmark)

    Drost, Mark; Zonneveld, José B M; van Hees, Sandrine;

    2012-01-01

    Lynch syndrome (LS) is an autosomal dominant disorder that predisposes to colon, endometrial, and other cancers. LS is caused by a heterozygous germline mutation in one of the DNA mismatch repair (MMR) genes. A significant proportion of all mutations found in suspected LS patients comprises singl...

  20. Association of Polymorphisms (rs 1799782, rs25489 and rs25487) in XRCC1 and (rs 13181) XPD genes with Acute Coronary Artery Syndrome in Subjects from Multan, Pakistan.

    Science.gov (United States)

    Hameed, Hafsa; Faryal, Maemona; Aslam, Muhammad Assad; Akbar, Atif; Saad, Abu Bakar Ali; Pasha, Muhammad Burhan; Latif, Muhammad; Rehan Sadiq Shaikh, Rehan Rehan Sadiq Shaikh; Ali, Muhammad; Iqbal, Furhan

    2016-05-01

    Acute coronary artery syndrome (ACS) is the major cause of mortality in Pakistan with genetic and environmental influence on the incidence of the disease. This case-control study was designed to find out if a correlation is existing between ACS and single nucleotide polymorphisms (SNPs) in DNA repair genes XPD [at codon 751, rs 13181 (Lys to Gln)] and XRCC1 [at codon 399, rs25487 (Arg to Gln); 280, rs25489 (Arg to His) and 194, rs 1799782 (Arg to Trp)] either individually or in various combination with each other (haplotype analysis). The objective of this study was to find out the association of various studied risk factors and serum lipid profile of the subjects with the disease, if any. PCR-RFLP method was used to determine genotype at specific codon in 221 subjects (115 ACS patients and 106 healthy controls) from Southern Punjab population. Genotypic and allelic frequency distribution among the cases and controls revealed that all the studied SNPs were not individually associated with the ACS. Haplotype analysis revealed that subjects having wild type combination of all three XRCC1 SNPs had greater susceptibility to ACS than any other studied genotypic combinations. Analysis of risk factors revealed that hypertension (Peducation (Pgender (P<0.001), family history (P=0.005), smoking habit (P=0.002) and diabetes (P<0.001) were significantly associated with the incidence of ACS. Serum lipid profile analysis indicated that cholesterol level was significantly higher (P=0.048) in patients (161.5mg/dL) than controls (142.1mg/dL) while triglyceride remained unaffected (P=0.87) when compared between the two treatments. PMID:27166553