WorldWideScience

Sample records for artery syndrome variant

  1. Endovascular treatment of a Superior Mesenteric Artery Syndrome variant secondary to traumatic pseudoaneurysm

    Directory of Open Access Journals (Sweden)

    Abercrombie John F

    2010-03-01

    Full Text Available Abstract Pseudoaneurysms related to the superior mesenteric artery (SMA are a recognised complication of trauma to the vessel, and successful treatment with stenting has been previously described. We report the case of a patient who presented with obstruction of the fourth part of the duodenum secondary to a traumatic pseudoaneurysm, a hitherto unreported variant of superior mesenteric artery syndrome. Exclusion of the pseudoaneurysm and relief of the duodenal obstruction were simultaneously achieved by placement of a covered stent.

  2. Celiac Artery Compression Syndrome

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    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. Popliteal artery entrapment syndrome

    DEFF Research Database (Denmark)

    Altintas, Ümit; Helgstrand, Ulf Johan Vilhelm; Hansen, Marc A;

    2013-01-01

    The purpose of this study was to report our experience with popliteal artery entrapment syndrome (PAES) with special emphasis on the applicability of duplex ultrasound scanning (DUS) when diagnosing PAES. In addition to examining the correlation between DUS and intraoperative findings...

  5. [Mirizzi syndrome and its variants].

    Science.gov (United States)

    Meyer, G J; Runge, D; Gebhardt, J

    1990-04-01

    Between 1981 and 1987 5434 patients were studied by ERCP in Allgemeines Krankenhaus Hamburg-Barmbeck. 26 (i.e. 0.43%) suffered from Mirizze syndrome with the triad of cholelithiasis, cholecystitis and obstructive biliary disease. They were classified in four different types according to the variable localisation and origin of the biliary obstruction. 16 patients corresponded to the classical type (I and II) with compression, penetration, and obturation by the concrement, five patients matched borderline with infiltration (III) and five patients were classified as variants of this syndrome. A mild elevation of serum bilirubine and alkaline phosphatase indicated more likely the benign etiology of type I to III, however, a marked elevation of alkaline phosphatase in the variants suggested more likely a malignant underlying disease. The diagnosis was ascertained in all cases by ERC and sonography preoperatively and was verified by laparotomy (n = 18) and follow-up (n = 6).

  6. 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.

  7. Another new variant of Bouveret's syndrome

    Institute of Scientific and Technical Information of China (English)

    Seong-Heum Park; Sang-Woo Lee; Tae-Jin Song

    2009-01-01

    Although Bouveret's syndrome, i.e. gastric outlet obstruction by a large gallstone impacted in the proximal duodenum secondary to a cholecystoduodenal fistula,is rare, its pathogenesis and clinical features are well characterized. However, existence of variant forms of the syndrome are not well known, and as far as we have been described in the English-language literature.We present a case of another new variant of Bouveret's syndrome in a 54-year-old Korean woman.

  8. Coronary Artery Disease in a Werner Syndrome-Like Form of Progeria Characterized by Low Levels of Progerin, a Splice Variant of Lamin A

    Science.gov (United States)

    Hisama, Fuki M.; Lessel, Davor; Leistritz, Dru; Friedrich, Katrin; McBride, Kim L.; Pastore, Matthew T.; Gottesman, Gary S.; Saha, Bidisha; Martin, George M.; Kubisch, Christian; Oshima, Junko

    2015-01-01

    Classical Hutchinson–Gilford progeria syndrome (HGPS) is caused by LMNA mutations that generate an alternatively spliced form of lamin A, termed progerin. HGPS patients present in early childhood with atherosclerosis and striking features of accelerated aging. We report on two pedigrees of adult-onset coronary artery disease with progeroid features, who were referred to our International Registry of Werner Syndrome (WS) because of clinical features consistent with the diagnosis. No mutations were identified in the WRN gene that is responsible for WS, among these patients. Instead, we found two novel heterozygous mutations at the junction of exon 10 and intron 11 of the LMNA gene. These mutations resulted in the production of progerin at a level substantially lower than that of HGPS. Our findings indicate that LMNA mutations may result in coronary artery disease presenting in the fourth to sixth decades along with short stature and a progeroid appearance resembling WS. The absence of early-onset cataracts in this setting should suggest the diagnosis of progeroid laminopathy. This study illustrates the evolving genotype–phenotype relationship between the amount of progerin produced and the age of onset among the spectrum of restrictive dermopathy, HGPS, and atypical forms of WS. PMID:22065502

  9. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

    Science.gov (United States)

    Hisama, Fuki M; Lessel, Davor; Leistritz, Dru; Friedrich, Katrin; McBride, Kim L; Pastore, Matthew T; Gottesman, Gary S; Saha, Bidisha; Martin, George M; Kubisch, Christian; Oshima, Junko

    2011-12-01

    Classical Hutchinson-Gilford progeria syndrome (HGPS) is caused by LMNA mutations that generate an alternatively spliced form of lamin A, termed progerin. HGPS patients present in early childhood with atherosclerosis and striking features of accelerated aging. We report on two pedigrees of adult-onset coronary artery disease with progeroid features, who were referred to our International Registry of Werner Syndrome (WS) because of clinical features consistent with the diagnosis. No mutations were identified in the WRN gene that is responsible for WS, among these patients. Instead, we found two novel heterozygous mutations at the junction of exon 10 and intron 11 of the LMNA gene. These mutations resulted in the production of progerin at a level substantially lower than that of HGPS. Our findings indicate that LMNA mutations may result in coronary artery disease presenting in the fourth to sixth decades along with short stature and a progeroid appearance resembling WS. The absence of early-onset cataracts in this setting should suggest the diagnosis of progeroid laminopathy. This study illustrates the evolving genotype-phenotype relationship between the amount of progerin produced and the age of onset among the spectrum of restrictive dermopathy, HGPS, and atypical forms of WS.

  10. Three new families with arterial tortuosity syndrome.

    NARCIS (Netherlands)

    Wessels, M.W.; Catsman-Berrevoets, C.E.; Mancini, G.M.; Breuning, M.H.; Hoogeboom, J.J.; Stroink, H.; Frohn-Mulder, I.M.; Coucke, P.J.; Paepe, A.D.; Niermeijer, M.F.; Willems, P.J.

    2004-01-01

    Arterial tortuosity syndrome (ATS) is a rare condition with autosomal recessive inheritance characterized by connective tissue abnormalities. The most specific clinical findings are cardiovascular anomalies including tortuosity, lengthening, aneurysm, and stenosis formation of major arteries. Also v

  11. Kenny-Caffey syndrome: an Arab variant?

    Science.gov (United States)

    Sabry, M A; Farag, T I; Shaltout, A A; Zaki, M; Al-Mazidi, Z; Abulhassan, S J; Al-Torki, N; Quishawi, A; Al Awadi, S A

    1999-01-01

    We describe 2 unrelated Bedouin girls who met the criteria for the diagnosis of Kenny-Caffey syndrome. The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by macrocephaly and normal intelligence. The 2 girls did not harbor the 22q11 microdeletion (the hallmark of the DiGeorge cluster of diseases) that we previously reported in another Bedouin family with the Kenny-Caffey syndrome (Sabry et al. J Med Genet 1998: 35(1): 31-36). This indicates considerable genetic heterogeneity for this syndrome. We also review previously reported 44 Arab/Bedouin patients with the same profile of hypoparathyroidism, short stature, seizures, mental retardation and microcephaly. Our results suggest that these patients represent an Arab variant of Kenny-Caffey syndrome with characteristic microcephaly and psychomotor retardation. We suggest that all patients with Kenny-Caffey syndrome should be investigated for the 22q11 microdeletion. Other possible genetic causes for the Kenny-Caffey syndrome or its Arab variant include chromosome 10p abnormalities.

  12. 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.

  13. Coronary artery anomalies in Turner Syndrome

    DEFF Research Database (Denmark)

    Viuff, Mette H; Trolle, Christian; Wen, Jan;

    2016-01-01

    BACKGROUND: Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out...... to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. METHODS: Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. RESULTS......: Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had...

  14. Goldenhar Syndrome Associated with Extensive Arterial Malformations

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    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.

  15. Superior mesenteric artery syndrome causing growth retardation

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    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

  16. Superior mesenteric artery compression syndrome - case report

    OpenAIRE

    Paulo Rocha França Neto; Rodrigo de Almeida Paiva; Antônio Lacerda Filho; Fábio Lopes de Queiroz; Teon Noronha

    2011-01-01

    Superior mesenteric artery syndrome is an entity generally caused by the loss of the intervening mesenteric fat pad, resulting in compression of the third portion of the duodenum by the superior mesenteric artery. This article reports the case of a patient with irremovable metastatic adenocarcinoma in the sigmoid colon, that evolved with intense vomiting. Intestinal transit was carried out, which showed important gastric dilation extended until the third portion of the duodenum, compatible wi...

  17. [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.

  18. Variant of Coffin-Siris syndrome or previously undescribed syndrome?

    Science.gov (United States)

    Braun-Quentin, C; Kapferer, L; Kotzot, D

    1996-09-06

    We describe a 23-year-old woman with growth and mental retardation, hypoplasia of the nails and distal phalanges, particularly of the fifth fingers and toes, hirsutism, and a "coarse" face with large mouth and large tongue, and bushy eyebrows. Follow-up from birth to adulthood showed that developmental delay and hypoplasia of nails and distal phalanges are permanent signs. Sparse scalp hair, hypotonia, and feeding difficulties were present in early infancy. Later, growth retardation, hirsutism, and a "coarse" face with midface hypoplasia, broad nose, and large mouth became more impressive. Differential diagnosis includes a number of conditions, particularly Coffin-Siris syndrome, which is the most likely but not completely convincing diagnosis. Therefore, this woman might represent a variant of Coffin-Siris syndrome or a new entity.

  19. Increased arterial distensibility and renovascular hypertension in Goldenhar syndrome Aumento de distensibilidade arterial e hipertensão renovascular na Sindrome de Goldenhar

    OpenAIRE

    Drager, Luciano F.; Hélio Bernardes Silva; Bortolotto, Luiz A

    2005-01-01

    This is a report of the successful angioplastic treatment of an association of renovascular hypertension with renal artery stenosis and the Goldenhar syndrome (a variant of oculoauriculovertebral dysplasia). For the first time to date, this association, which occurred in a 13-year-old girl, is reported. Additionally, increased arterial distensibility in spite of arterial hypertension was detected by noninvasive methods. The similarity of this finding and in those for other genetic diseases, s...

  20. Reduced artery diameters in Klinefelter syndrome.

    Science.gov (United States)

    Foresta, C; Caretta, N; Palego, P; Ferlin, A; Zuccarello, D; Lenzi, A; Selice, R

    2012-10-01

    Various epidemiological studies in relatively large cohorts of patients with Klinefelter syndrome (KS) described the increased morbidity and mortality in these subjects. Our aim was to study the structure and function of arteries in different districts to investigate in these subjects possible alterations. A total of 92 patients having non-mosaic KS, diagnosed in Centre for Human Reproduction Pathology at the University of Padova, and 50 age-matched healthy male controls were studied. Klinefelter syndrome subjects and controls evaluation included complete medical history, physical examination, measurement of concentrations of the reproductive hormones, lipidic and glycidic metabolism, AR function and sensitivity, ultrasound examinations (diameters, carotid intima-media thickness and brachial flow-mediated dilation) of brachial, common carotid and common femoral artery and abdominal aorta. Klinefelter syndrome patients showed significantly reduced artery diameters in all districts evaluated. On the contrary no statistically significant difference was found in cIMT and brachial FMD values between KS patients and controls. Furthermore, we found no statistically significant correlation of artery diameters with reproductive hormones, metabolic parameters, anthropometric measures and weighted CAG repeats. To our knowledge, this is the first study finding a reduced artery diameter in several districts in KS patients compared with that of normal male subjects and overlapping to that of female subjects. We have not an explanation for this phenomenon, even if a possible involvement of genes controlling the development of vascular system might be hypothesized, and further research is required to verify this hypothesis.

  1. Horner syndrome due to vertebral artery stenosis.

    Science.gov (United States)

    Kim, Chul Han

    2013-11-01

    The author reports a rare case of Horner syndrome in a patient who resulted from stenosis of the vertebral artery after blunt trauma. A 31-year-old man was transferred to our department for evaluation of left medial orbital wall and nasal bone fractures. Five days ago, he was hospitalized due to multiple second to fourth rib fractures of the right chest following blunt trauma of the face, neck, and chest. Surgery was performed. Ten days later, he complained of drooping of the right eyelid. Physical examination revealed a discrete miosis and ptosis with normal levator function in the right eye. A workup for Horner syndrome was performed. Magnetic resonance angiography of the head and neck revealed a stenosis of the distal part of the right vertebral artery without the abnormality of carotid artery. He wore a cervical collar and underwent anticoagulation. However, Horner syndrome was not resolved over the next 12 months. Acute traumatic Horner syndrome may be associated with vertebral artery dissection in which the possibility of life-threatening injury can be masked.

  2. Aneurysms of medium-sized arteries in Marfan syndrome.

    Science.gov (United States)

    Awais, Mazen; Williams, David M; Deeb, G Michael; Shea, Michael J

    2013-11-01

    Marfan syndrome is a relatively common connective tissue disorder that causes skin, ocular, skeletal, and cardiovascular abnormalities. High morbidity and mortality occur with aortic aneurysm and dissection. Other large-artery aneurysms, including carotid, subclavian, and iliac artery aneurysms, have also been associated with Marfan syndrome. It is not clear whether small- to medium-sized artery aneurysms are associated with Marfan syndrome. This report describes 4 patients with Marfan syndrome who have associated small- to medium-sized artery aneurysms with several complications. Additional investigations are needed to determine whether Marfan syndrome can cause small- to medium-sized artery aneurysms and how patients with these aneurysms should be treated.

  3. 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 b...

  4. 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.

  5. Variant origin of right testicular artery – a rare case

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    Salve VM

    2010-02-01

    Full Text Available Testicular arterial anatomy is important for testicular and renal surgeries. It may vary at the origin and arise from renal artery, suprarenal artery or lumbar artery. During routine dissection of 52-year-old male cadaver; the right testicular artery arising from right aberrant renal artery was found. Anatomical variation of testicular arteries is reported to be 4.7%. Presence of aberrant renal artery is seen in 13–16% of cases only. The origin of right testicular artery from right aberrant renal artery is very rare. Thus knowledge of this type of variation is very important in avoiding complications during operative surgeries.

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

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    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.

  7. [Variants of Gerstmann's syndrome in children].

    Science.gov (United States)

    Novinskaia, N L; Glezerman, T B

    1986-01-01

    Neuropsychological study of backward schoolchildren with normal intellect revealed the cause of their school disadaptation, namely, a combined cortical disorder expressed in the form of discalculia and disgraphy (Gerstmann's syndrome). Histories of 3 children with this abnormality are described. The authors consider the clinical heterogeneity of the syndrome, its origin, and the use of intact intellectual abilities for adequate medico-pedagogical correction.

  8. Basilar artery thrombosis in the setting of antiphospholipid syndrome.

    Science.gov (United States)

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

    2014-07-01

    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.

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

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    Metin Keskin

    2014-01-01

    Full Text Available 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 paper, we describe a patient who developed superior mesenteric artery syndrome after scoliosis surgery and was treated with duodenojejunostomy due to failure and complications of conservative treatment.

  10. Autoimmune Cholangitis: A Variant Syndrome of Autoimmune Hepatitis

    OpenAIRE

    Brij Sharma; Sujeet Raina; Rajesh Sharma

    2014-01-01

    Autoimmune cholangitis (AIC) or autoimmune cholangiopathy is a chronic inflammation of liver and a variant syndrome of autoimmune hepatitis (AIH). We present a case of an adult female who had biochemical features of cholestasis and transaminasemia but aminotransferases were not in the hepatitis range and had histological evidence of bile duct injury which was subsequently diagnosed as autoimmune cholangitis.

  11. Genetically complex epilepsies, copy number variants and syndrome constellations.

    Science.gov (United States)

    Mefford, Heather C; Mulley, John C

    2010-10-05

    Epilepsy is one of the most common neurological disorders, with a prevalence of 1% and lifetime incidence of 3%. There are numerous epilepsy syndromes, most of which are considered to be genetic epilepsies. Despite the discovery of more than 20 genes for epilepsy to date, much of the genetic contribution to epilepsy is not yet known. Copy number variants have been established as an important source of mutation in other complex brain disorders, including intellectual disability, autism and schizophrenia. Recent advances in technology now facilitate genome-wide searches for copy number variants and are beginning to be applied to epilepsy. Here, we discuss what is currently known about the contribution of copy number variants to epilepsy, and how that knowledge is redefining classification of clinical and genetic syndromes.

  12. Variant angina and coronary artery spasm: the clinical spectrum, pathophysiology, and management.

    Science.gov (United States)

    Kusama, Yoshiki; Kodani, Eitaro; Nakagomi, Akihiro; Otsuka, Toshiaki; Atarashi, Hirotsugu; Kishida, Hiroshi; Mizuno, Kyoichi

    2011-01-01

    Variant angina is a form of angina pectoris that shows transient ST-segment elevation on electrocardiogram during an attack of chest pain. Ischemic episodes of variant angina show circadian variation and often occur at rest from midnight to early morning. Ischemic episodes also occur during mild exercise in the early morning. However, they are not usually induced by strenuous exercise in the afternoon. Other important clinical features of variant angina include the high frequency of asymptomatic ischemic episodes and the syncope that sometimes occur during the ischemic episodes. Syncope is due to severe arrhythmias, including ventricular tachycardia, ventricular fibrillation, and high-degree atrioventricular block. Coronary artery spasm is the mechanism of ischemic episodes in variant angina. The incidence of coronary artery spasm shows a racial difference and is higher in Japanese than in Caucasians. Coronary arteriograms are normal or near-normal in most Japanese patients with variant angina. Deficient basal release of nitric oxide (NO) due to endothelial dysfunction, and enhanced vascular smooth muscle contractility with the involvement of the Rho/Rho-kinase pathway are reported to play important roles in the pathogenesis of coronary artery spasm. Other precipitating factors of coronary artery spasm include imbalance in autonomic nervous activity, increased oxidative stress, chronic low-grade inflammation, magnesium deficiency, and genetic susceptibility. The genetic risk factors associated with coronary artery spasm include gene polymorphisms of endothelial NO synthase (NOS), paraoxonase, and other genes. Calcium channel blockers are extremely effective in preventing coronary spasm. The long-acting nitrate, nicorandil, and Rho-kinase inhibitor are also useful for inhibiting coronary artery spasm. Because variant angina can lead to acute myocardial infarction, fatal arrhythmias, and sudden death, early treatment is important. The prognosis of patients with

  13. Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

    Science.gov (United States)

    Zimmermann, Michael T.; Urrutia, Raul A.; Blackburn, Patrick R.; Cousin, Margot A.; Boczek, Nicole J.; Klee, Eric W.; Macmurdo, Colleen

    2017-01-01

    Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS. The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (Z-scores 5-6), pectus excavatum, and congenital contractures of the right 2nd and 3rd digit. Molecular testing of TGFBR2 was sent to a commercial laboratory and demonstrated a novel, likely pathogenic, variant in exon 4, c.1061T>C, p.(L354P). Molecular modeling reveals alteration of local protein structure as a result of this pathogenic variant. This pathogenic variant has not been previously reported in LDS and thus expands the pathogenic variant spectrum of this condition. PMID:28163941

  14. Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

    Directory of Open Access Journals (Sweden)

    Michael T. Zimmermann

    2017-01-01

    Full Text Available Loeys-Dietz syndrome (LDS is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS. The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (Z-scores 5-6, pectus excavatum, and congenital contractures of the right 2nd and 3rd digit. Molecular testing of TGFBR2 was sent to a commercial laboratory and demonstrated a novel, likely pathogenic, variant in exon 4, c.1061T>C, p.(L354P. Molecular modeling reveals alteration of local protein structure as a result of this pathogenic variant. This pathogenic variant has not been previously reported in LDS and thus expands the pathogenic variant spectrum of this condition.

  15. 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.

  16. Superior mesenteric artery compression syndrome - case report

    Directory of Open Access Journals (Sweden)

    Paulo Rocha França Neto

    2011-12-01

    Full Text Available Superior mesenteric artery syndrome is an entity generally caused by the loss of the intervening mesenteric fat pad, resulting in compression of the third portion of the duodenum by the superior mesenteric artery. This article reports the case of a patient with irremovable metastatic adenocarcinoma in the sigmoid colon, that evolved with intense vomiting. Intestinal transit was carried out, which showed important gastric dilation extended until the third portion of the duodenum, compatible with superior mesenteric artery syndrome. Considering the patient's nutritional condition, the medical team opted for the conservative treatment. Four months after the surgery and conservative measures, the patient did not present vomiting after eating, maintaining previous weight. Superior mesenteric artery syndrome is uncommon and can have unspecific symptoms. Thus, high suspicion is required for the appropriate clinical adjustment. A barium examination is required to make the diagnosis. The treatment can initially require gastric decompression and hydration, besides reversal of weight loss through adequate nutrition. Surgery should be adopted only in case of clinical treatment failure.A síndrome da artéria mesentérica superior é uma entidade clínica causada geralmente pela perda do tecido adiposo mesentérico, resultando na compressão da terceira porção do duodeno pela artéria mesentérica superior. Esse artigo relata o caso clínico de uma paciente portadora de adenocarcinoma de cólon sigmoide metastático irressecável, que evoluiu com vômitos incoercíveis. Realizou-se, então, trânsito intestinal que evidenciou dilatação gástrica importante, que se prolongava até a terceira porção duodenal, quadro radiológico compatível com pinçamento da artéria mesentérica superior. Diante da condição nutricional da paciente, foi optado por iniciar medidas conservadoras (porções alimentares pequenas e mais frequentes, além de dec

  17. Variant of a Klippel-Trenaunay syndrome - Case report; Variante eines Klippel-Trenaunay-Syndroms - ein Fallbericht

    Energy Technology Data Exchange (ETDEWEB)

    Irlbacher, K.; Behse, F.; Roericht, S.; Meyer, B.U. [Charite-Campus Virchow Klinikum, Humboldt-Univ. Berlin (Germany); Hoffmann, K.T. [Charite-Campus Virchow Klinikum, Humboldt-Univ. Berlin (Germany). Radiologische Klinik

    2000-07-01

    We report a patient with a variant of this syndrome presenting with extensive varicose veins and arteriovenous shunts within the left arm, bony hypotrophy of the left hand, mucocutaneous melanin spots in the face and thrombocytopenia. Imaging techniques play a major role in making a diagnosis in angiophakomatoses. (orig.) [German] Hier wird eine Patientin mit einer Variante eines KT vorgestellt, bei der klinisch und mit bildgebenden Verfahren folgende Befunde erhoben wurden: Segmentale varikoese Venektasien und arteriovenoese Kurzschluesse im linken Arm und Hypotrophie von Handknochen, Phlebolithen, Venenektasien in der linken Wangenschleimhaut, Pigmentnaevi in der Gesichts-, Lippen-, und Wangenschleimhaut und Thrombozytopenie. Bildgebende Verfahren helfen hier eine diagnostische Einstufung vorzunehmen. (orig.)

  18. 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.

  19. 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.

  20. Lessons learned from anatomic variants of the hepatic artery in 1,081 transplanted livers.

    Science.gov (United States)

    López-Andújar, Rafael; Moya, Angel; Montalvá, Eva; Berenguer, Marina; De Juan, Manuel; San Juan, Fernando; Pareja, Eugenia; Vila, Juan José; Orbis, Francisco; Prieto, Martín; Mir, José

    2007-10-01

    The aim of this study is to contribute our experience to the knowledge of the anatomic variations of the hepatic arterial supply. The surgical anatomy of the extrahepatic arterial vascularization was investigated prospectively in 1,081 donor cadaveric livers, transplanted at La Fe University Hospital from January 1991 to August 2004. The vascular anatomy of the hepatic grafts was classified according to Michels description (Am J Surg 1966;112:337-347) plus 2 variations. Anatomical variants of the classical pattern were detected in 30% of the livers (n=320). The most common variant was a replaced left artery arising from the left gastric artery (9.7%) followed by a replaced right hepatic artery arising from the superior mesenteric artery (7.8%). In conclusion, the information about the different hepatic arterial patterns can help in reducing the risks of iatrogenic complications, which in turn may result in better outcomes not only following surgical interventions but also in the context of radiological treatments.

  1. 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.

  2. Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease

    NARCIS (Netherlands)

    Butterworth, Adam S.; Braund, Peter S.; Farrall, Martin; Hardwick, Robert J.; Saleheen, Danish; Peden, John F.; Soranzo, Nicole; Chambers, John C.; Sivapalaratnam, Suthesh; Kleber, Marcus E.; Keating, Brendan; Qasim, Atif; Klopp, Norman; Erdmann, Jeanette; Assimes, Themistocles L.; Ball, Stephen G.; Balmforth, Anthony J.; Barnes, Timothy A.; Basart, Hanneke; Baumert, Jens; Bezzina, Connie R.; Boerwinkle, Eric; Boehm, Bernhard O.; Brocheton, Jessy; Bugert, Peter; Cambien, Francois; Clarke, Robert; Codd, Veryan; Collins, Rory; Couper, David; Cupples, L. Adrienne; de Jong, Jonas S.; Diemert, Patrick; Ejebe, Kenechi; Elbers, Clara C.; Elliott, Paul; Fornage, Myriam; Franzosi, Maria-Grazia; Frossard, Philippe; Garner, Stephen; Goel, Anuj; Goodall, Alison H.; Hengstenberg, Christian; Hunt, Sarah E.; Kastelein, John J. P.; Klungel, Olaf H.; Klueter, Harald; Koch, Kerstin; Koenig, Inke R.; Kooner, Angad S.; Laaksonen, Reijo; Lathrop, Mark; Li, Mingyao; Liu, Kiang; McPherson, Ruth; Musameh, Muntaser D.; Musani, Solomon; Nelson, Christopher P.; O'Donnell, Christopher J.; Ongen, Halit; Papanicolaou, George; Peters, Annette; Peters, Bas J. M.; Potter, Simon; Psaty, Bruce M.; Qu, Liming; Rader, Daniel J.; Rasheed, Asif; Rice, Catherine; Scott, James; Seedorf, Udo; Sehmi, Joban S.; Sotoodehnia, Nona; Stark, Klaus; Stephens, Jonathan; van der Schoot, C. Ellen; van der Schouw, Yvonne T.; Thorsteinsdottir, Unnur; Tomaszewski, Maciej; van der Harst, Pim; Vasan, Ramachandran S.; Wilde, Arthur A. M.; Willenborg, Christina; Winkelmann, Bernhard R.; Zaidi, Moazzam; Zhang, Weihua; Ziegler, Andreas; de Bakker, Paul I. W.; Koenig, Wolfgang; Maerz, Winfried; Trip, Mieke D.; Reilly, Muredach P.; Kathiresan, Sekar; Schunkert, Heribert; Hamsten, Anders; Hall, Alistair S.; Kooner, Jaspal S.; Thompson, Simon G.; Thompson, John R.; Deloukas, Panos; Ouwehand, Willem H.; Watkins, Hugh; Danesh, John; Samani, Nilesh J.

    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

  3. 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

  4. Rhabdomyolysis and Autoimmune Variant Stiff-Person Syndrome.

    Science.gov (United States)

    Gangadhara, Shreyas; Gangadhara, Suhas; Gandhy, Chetan; Robertson, Derrick

    2016-10-24

    Stiff-person syndrome (SPS) is a rare neurologic disorder characterized by waxing and waning muscular rigidity, stiffness and spasms. Three subtypes have been described: paraneoplastic, autoimmune and idiopathic. Rhabdomyolysis has been described in the paraneoplastic variant, but to our knowledge no case has been reported involving the autoimmune variant. We report a case report of a 50-year-old man with history of SPS who presented with recurrent episodes of severe limb and back spasms. He was hospitalized on two separate occasions for uncontrollable spasms associated with renal failure and creatinine phosphokinase elevations of 55,000 and 22,000 U/L respectively. Laboratory tests were otherwise unremarkable. The acute renal failure resolved during both admissions with supportive management. Rhabdomyolysis has the potential to be fatal and early diagnosis is essential. It should be considered in patients who have SPS and are experiencing an exacerbation of their neurologic condition.

  5. Rhabdomyolysis and Autoimmune Variant Stiff-Person Syndrome

    Science.gov (United States)

    Gangadhara, Shreyas; Gangadhara, Suhas; Gandhy, Chetan; Robertson, Derrick

    2016-01-01

    Stiff-person syndrome (SPS) is a rare neurologic disorder characterized by waxing and waning muscular rigidity, stiffness and spasms. Three subtypes have been described: paraneoplastic, autoimmune and idiopathic. Rhabdomyolysis has been described in the paraneoplastic variant, but to our knowledge no case has been reported involving the autoimmune variant. We report a case report of a 50-year-old man with history of SPS who presented with recurrent episodes of severe limb and back spasms. He was hospitalized on two separate occasions for uncontrollable spasms associated with renal failure and creatinine phosphokinase elevations of 55,000 and 22,000 U/L respectively. Laboratory tests were otherwise unremarkable. The acute renal failure resolved during both admissions with supportive management. Rhabdomyolysis has the potential to be fatal and early diagnosis is essential. It should be considered in patients who have SPS and are experiencing an exacerbation of their neurologic condition. PMID:28028432

  6. Increased arterial distensibility and renovascular hypertension in Goldenhar syndrome Aumento de distensibilidade arterial e hipertensão renovascular na Sindrome de Goldenhar

    Directory of Open Access Journals (Sweden)

    Luciano F. Drager

    2005-04-01

    Full Text Available This is a report of the successful angioplastic treatment of an association of renovascular hypertension with renal artery stenosis and the Goldenhar syndrome (a variant of oculoauriculovertebral dysplasia. For the first time to date, this association, which occurred in a 13-year-old girl, is reported. Additionally, increased arterial distensibility in spite of arterial hypertension was detected by noninvasive methods. The similarity of this finding and in those for other genetic diseases, suggests that the vascular lesions could be linked to the Goldenhar syndrome.Relatamos a associação de hipertensão renovascular por estenose de artéria renal e a Sindrome de Goldenhar (variante da displasia oculoauriculovertebral em uma paciente do sexo feminino de 13 anos de idade. Este é o primeiro relato de tratamento por angioplastia. Além disso, detectamos por métodos não invasivos um aumento da distensibilidade arterial, a despeito da hipertensão arterial. A similaridade destes achados com outras doenças genéticas sugere que as alterações vasculares presentes podem estar relacionadas à Síndrome de Goldenhar.

  7. Piriformis Syndrome With Variant Sciatic Nerve Anatomy: A Case Report.

    Science.gov (United States)

    Kraus, Emily; Tenforde, Adam S; Beaulieu, Christopher F; Ratliff, John; Fredericson, Michael

    2016-02-01

    A 68-year-old male long distance runner presented with low back and left buttock pain, which eventually progressed to severe and debilitating pain, intermittently radiating to the posterior thigh and foot. A comprehensive workup ruled out possible spine or hip causes of his symptoms. A pelvic magnetic resonance imaging neurogram with complex oblique planes through the piriformis demonstrated variant anatomy of the left sciatic nerve consistent with the clinical diagnosis of piriformis syndrome. The patient ultimately underwent neurolysis with release of the sciatic nerve and partial resection of the piriformis muscle. After surgery the patient reported significant pain reduction and resumed running 3 months later. Piriformis syndrome is uncommon but should be considered in the differential diagnosis for buttock pain. Advanced imaging was essential to guide management.

  8. Arterial thrombosis in the antiphospholipid syndrome

    NARCIS (Netherlands)

    Urbanus, R.T

    2008-01-01

    The antiphospholipid syndrome (APS) is a non-inflammatory autoimmune disease that mainly affects young women. The syndrome is characterized by recurrent thrombosis or pregnancy morbidity in association with the persistent serological presence of antiphospholipid antibodies. Antiphospholipid antibodi

  9. 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.

  10. Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants

    Directory of Open Access Journals (Sweden)

    Sayols-Baixeras S

    2014-01-01

    Full Text Available Sergi Sayols-Baixeras, Carla Lluís-Ganella, Gavin Lucas, Roberto ElosuaCardiovascular Epidemiology and Genetics Research Group, Institut Hospital del Mar d'Investigacions Mèdiques, Barcelona, SpainAbstract: Coronary artery disease (CAD is the leading cause of death and disability worldwide, and its prevalence is expected to increase in the coming years. CAD events are caused by the interplay of genetic and environmental factors, the effects of which are mainly mediated through cardiovascular risk factors. The techniques used to study the genetic basis of these diseases have evolved from linkage studies to candidate gene studies and genome-wide association studies. Linkage studies have been able to identify genetic variants associated with monogenic diseases, whereas genome-wide association studies have been more successful in determining genetic variants associated with complex diseases. Currently, genome-wide association studies have identified approximately 40 loci that explain 6% of the heritability of CAD. The application of this knowledge to clinical practice is challenging, but can be achieved using various strategies, such as genetic variants to identify new therapeutic targets, personal genetic information to improve disease risk prediction, and pharmacogenomics. The main aim of this narrative review is to provide a general overview of our current understanding of the genetics of coronary artery disease and its potential clinical utility.Keywords: coronary artery disease, pathogenesis, genetic risk factors, genetic variants

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

    DEFF Research Database (Denmark)

    Nioi, Paul; Sigurdsson, Asgeir; Thorleifsson, Gudmar;

    2016-01-01

    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...... of approximately 398,000 Icelanders. We tested for association between these imputed variants and non-HDL cholesterol levels in 119,146 samples. We then performed replication testing in two populations of European descent. We assessed the effects of an implicated loss-of-function variant on the risk of coronary...... artery disease in 42,524 case patients and 249,414 controls from five European ancestry populations. An augmented set of genomes was screened for additional loss-of-function variants in a target gene. We evaluated the effect of an implicated variant on protein stability. Results We found a rare noncoding...

  12. Superior Mesenteric Artery Syndrome in a Young Military Basic Trainee

    Science.gov (United States)

    2013-03-01

    patients with severe anorexia nervosa .10 Severe cases may require surgery or parenteral feeding because of food avoidance leading to further loss of...2012. 10. Gwee K, Teh A, Huang C: Acute superior mesenteric artery syndrome and pancreatitis in anorexia nervosa . Australas Psychiatry 2010; 18(6): 523

  13. Progressive supranuclear palsy (PSP): Richardson syndrome and other PSP variants.

    Science.gov (United States)

    Lopez, G; Bayulkem, K; Hallett, M

    2016-10-01

    Phenotypic heterogeneity of progressive supranuclear palsy (PSP) has been increasingly reported in the literature and can be the source of incorrect clinical diagnosis particularly in the early stages of the disease when the classically associated symptoms of early falls and supranuclear gaze palsy may not be apparent. In addition to Richardson syndrome (RS), several atypical clinical phenotypes have been described. Advances in genetic, neuroimaging, and biochemical/molecular technologies contribute to the identification of these clinical subtypes in the context of typical PSP pathological findings. Our goal is to review the phenomenology reported in the literature that is associated with confirmed histopathological changes consistent with a PSP diagnosis and to highlight the clinical spectrum of PSP. A systematic review of the literature in PubMed through July 2015 using MeSH terms and key words related to PSP was conducted. Articles describing PSP classifications, diagnostic criteria, and case reports were reviewed and summarized. Additional PSP phenotypes not seen in recent clinicopathological studies are included. These include primary lateral sclerosis, pallido-nigro-luysian degeneration, axonal dystrophy, and multiple system atrophy in the spectrum of atypical PSP variants beyond the traditionally classified PSP subtypes. This review is intended to help with the diagnostic challenges of atypical PSP variants. We believe that large multicenter clinicopathological studies will help expand our understanding of etiology and specific mechanisms of neurodegeneration and will aid in the appropriate interpretation of outcomes when conducting clinical and basic science research.

  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. Human activated protein C variants in a rat model of arterial thrombosis

    Directory of Open Access Journals (Sweden)

    Dahlbäck Björn

    2008-10-01

    Full Text Available Abstract Background Activated protein C (APC inhibits coagulation by degrading activated factor V (FVa and factor VIII (FVIIIa, protein S (PS functioning as a cofactor to APC. Methods By mutagenesis of the vitamin K-dependent Gla domain of APC, we have recently created an APC variant having enhanced anticoagulant activity due to increased affinity for negatively charged phospholipid membranes. In the present study, the potential antithrombotic effects of this APC variant, and of a variant APC that is additionally mutated in the serine protease domain, have been evaluated in a blind randomized study in a rat model of arterial thrombosis. In this model, we have previously found the combination of bovine APC and PS to be highly antithrombotic. Four treatment groups each containing 10 rats were, in a blind random fashion, given intravenous bolus injections of wild-type or mutant variants of APC (0.8 mg/kg together with human PS (0.6 mg/kg or human PS (0.6 mg/kg alone. A control group with 20 animals where given vehicle only. Results A trend to increased patency rates was noted in a group receiving one of the APC variants, but it did not reach statistical significance. Conclusion In conclusion, administration of human APC variants having enhanced anticoagulant efficacy together with human PS in a rat model of arterial thrombosis did not give an efficient antithrombotic effect. The lack of effect may be due to species-specific differences between the human protein C system and the rat hemostatic system.

  16. A brainstem variant of reversible posterior leukoencephalopathy syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kitaguchi, H.; Tomimoto, H.; Terada, K. [Kyoto University, Department of Neurology, Graduate School of Medicine, Sakyo-ku, Kyoto (Japan); Miki, Y.; Yamamoto, A. [Kyoto University, Department of Nuclear Medicine and Diagnostic Imaging, Graduate School of Medicine, Sakyo-ku, Kyoto (Japan); Satoi, H.; Kanda, M. [Ijinkai Takeda General Hospital, Department of Neurology, Fushimi-ku, Kyoto (Japan); Fukuyama, H. [Kyoto University, Human Brain Research Center, Graduate School of Medicine, Sakyo-ku, Kyoto (Japan)

    2005-09-01

    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.)

  17. A unique variant of Poland-Mobius syndrome with dextrocardia and a 3q23 gain.

    Science.gov (United States)

    Flores, A; Ross, J R; Tullius, T G; Levin, G S

    2013-07-01

    The combined Poland and Mobius syndrome occurs rarely and with a wide range of features. There is no consensus on the etiology of this syndrome; familial, sporadic cases and likely environmental insult cases have been reported. This sporadic case represents a unique variant in the spectrum of this syndrome.

  18. Bilateral axillary artery aneurysms after Bentall procedure in Marfan syndrome.

    Science.gov (United States)

    Haruki, Takashi; Ito, Hiroshi; Sakata, Kensuke; Kobayashi, Yurio

    2015-11-01

    A man with Marfan syndrome underwent a Bentall procedure for annuloaortic ectasia and severe aortic regurgitation at 43 years of age. Twenty-eight years after the Bentall procedure, he developed bilateral axillary artery aneurysms (length × diameter: right: 80 × 39 mm; left: 103 × 45 mm). Aneurysmectomy and reconstruction of the axillary artery were performed using an artificial vascular graft. Histological examination revealed cystic medial necrosis. The postoperative course was uneventful, but long-term follow-up is necessary.

  19. Down syndrome and aberrant right subclavian artery

    NARCIS (Netherlands)

    Roofthooft, Marcus T. R.; van Meer, Hester; Rietman, Wim G.; Ebels, Tjark; Berger, Rolf M. F.

    2008-01-01

    Down syndrome (DS) may be associated with various organ system disorders. Feeding problems are frequent in children with DS and may be caused by associated defects, including congenital heart defects, gastrointestinal defects, or endocrine disorders. In the absence of these associated conditions, fe

  20. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

    Science.gov (United States)

    Mencarelli, Maria Antonietta; Kleefstra, Tjitske; Katzaki, Eleni; Papa, Filomena Tiziana; Cohen, Monika; Pfundt, Rolph; Ariani, Francesca; Meloni, Ilaria; Mari, Francesca; Renieri, Alessandra

    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 normal development during the first months of life followed by a period of regression. A peculiar facial phenotype is also present and it is characterized by mild dysmorphisms such as downslanting palpebral fissures, bilateral epicanthic folds, depressed nasal bridge, bulbous nasal tip, tented upper lip, everted lower lip and large ears. The relationship between this microdeletion syndrome and the congenital variant of Rett syndrome due to point mutations in one of the genes included in the deleted region, FOXG1, is discussed.

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

    Energy Technology Data Exchange (ETDEWEB)

    Uchino, Akira; Saito, Naoko; Okada, Yoshitaka; Kozawa, Eito; Nishi, Naoko; Mizukoshi, Waka; Inoue, Kaiji; Nakajima, Reiko; Takahashi, Masahiro [Saitama Medical University International Medical Center, Department of Diagnostic Radiology, Hidaka, Saitama (Japan)

    2013-01-15

    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.)

  2. 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...

  3. Hepatic arterial vascular anatomy. Normal supply and variants; Anatomia vascolare arteriosa epatica e sue varianti

    Energy Technology Data Exchange (ETDEWEB)

    De Santis, M.; Ariosi, P.; Calo' , G.F.; Romagnoli, R. [Modena e Reggio Emilia Univ., Modena e Reggio Emilia (Italy). Dipt. di Scienze Mediche, Oncologiche e Radiologiche, Sez. di Scienze Radiologiche

    2000-09-01

    It was investigated the frequency of anatomical variants of the hepatic artery, which can influence interventional angiographic procedures. It was reviewed 150 consecutive angiograms performed for the treatment of primary (112) or metastatic (38) liver tumors and evaluated the frequency of anatomical variants of the hepatic artery based on the classification proposed by Michels in 1955, which describes 10 variants. The so-called typical anatomy which is in fact only found in 55% of cases, is indicated as type I. The typical anatomy (type I variant) was seen in 78 patients (52%) and variants were seen in the other 72 (48%). It was found that 15 type II variants (10%), 23 type III (15.5.%), 1 type IV and 1 type V (0.6%), 3 type VI (2%), 1 type VII (0.6%) and finally 6 type IX (4%). There were no type VIII or X variants, but in 22 patients (14.7%) vascular anatomy did not fit Michels' classification. In this series the typical hepatic artery anatomy was found in 52%, which is in agreement with Michels' findings, while the frequency of the individual anatomical variants differed. Not all of the variants reported by Michels were seen in our series and it was found 22 patients with different variants. Disagreement might be due to the fact that Michels' was an autoptic series while the patients were cancer patients only and thus variability could be at least partly accounted for by neoplastic neovascularization. It was believed that through knowledge of the anatomical variants of the hepatic artery is fundamental to angiographic practice, in particular for interventional procedures, because such variants can influence the choice of vascular technique and of materials. [Italian] Scopo di valutare l'incidenza delle varianti anatomiche del distretto arterioso epatico, la cui presenza puo' condizionare lo svolgimento delle tecniche di angiografia interventistica. E' stata eseguita la revisione degli studi angiografici di 150 pazienti consecutivi

  4. A persisting median artery in a patient with symbrachydactyly and carpal tunnel syndrome.

    Science.gov (United States)

    Tollan, C J; Sivarajan, V

    2008-07-01

    A persisting median artery associated with carpal tunnel syndrome in a patient with symbrachydactyly has not been previously described in the literature. It is unclear whether there may be a developmental association between persistence of a median artery and Symbrachydactyly.

  5. 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.

  6. 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.

  7. 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.

  8. Sanjad-Sakati Syndrome and Its Association with Superior Mesenteric Artery Syndrome

    Directory of Open Access Journals (Sweden)

    Osamah Abdullah AlAyed

    2014-01-01

    Full Text Available Sanjad-Sakati syndrome (SSS is an autosomal recessive disorder found exclusively in people of Arabian origin. It was first reported in the Kingdom of Saudi Arabia in 1988 and confirmed by a definitive report in 1991. The syndrome comprises of congenital hypoparathyroidism, seizures, severe growth and developmental retardation, low IQ, and atypical facial features. Supportive treatment in the form of vitamin D and growth hormone supplementation is often offered to patients suffering from SSS. This case study focuses on the steps taken to help a patient who was found to have very unusual symptoms and was later found to have superior mesenteric artery syndrome.

  9. Seatbelt syndrome with superior mesenteric artery syndrome: leave nothing to chance!

    Science.gov (United States)

    Singla, Animesh A; Singla, Apresh A

    2015-11-12

    The introduction of seatbelts to legislation has dramatically reduced mortality and morbidity from motor vehicle accidents. However, overtime evidence has emerged of 'seatbelt syndrome' (SBS), particularly in the paediatric population. The report describes the diagnosis and management of this rare injury in a 12-year-old boy who sustained a chance lumbar fracture and mesenteric tear resulting in small bowel obstruction. His stay was subsequently complicated by superior mesenteric artery (SMA) syndrome. This is the first documented case of SBS with SMA syndrome. High index of suspicion and continuity of care, particularly in the setting of a 'seatbelt sign', is paramount to timely diagnosis and management.

  10. Cerebral vascular findings in PAPA syndrome: cerebral arterial vasculopathy or vasculitis and a posterior cerebral artery dissecting aneurysm.

    Science.gov (United States)

    Khatibi, Kasra; Heit, Jeremy J; Telischak, Nicholas A; Elbers, Jorina M; Do, Huy M

    2016-08-01

    A young patient with PAPA (pyogenic arthritis, pyoderma gangrenosum, and acne) syndrome developed an unusual cerebral arterial vasculopathy/vasculitis (CAV) that resulted in subarachnoid hemorrhage from a ruptured dissecting posterior cerebral artery (PCA) aneurysm. This aneurysm was successfully treated by endovascular coil sacrifice of the affected segment of the PCA. The patient made an excellent recovery with no significant residual neurologic deficit.

  11. Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM

    OpenAIRE

    Shastri, Vivek M.; Schmidt, Kristina H.

    2015-01-01

    Abstract Background Bloom syndrome is an autosomal recessive disorder characterized by extraordinary cancer incidence early in life and an average life expectancy of ~27 years. Premature stop codons in BLM , which encodes a DNA helicase that functions in DNA double‐strand‐break repair, make up the vast majority of Bloom syndrome mutations, with only 13 single amino acid changes identified in the syndrome. Sequencing projects have identified nearly one hundred single nucleotide variants in BLM...

  12. Catastrophic Antiphospholipid Syndrome Presenting as Bilateral Central Retinal Artery Occlusions

    Directory of Open Access Journals (Sweden)

    Steven S. Saraf

    2015-01-01

    Full Text Available A previously healthy 22-year-old African American woman presented with bilateral vision loss associated with headache. Her ocular examination was significant for bilateral retinal arterial “boxcarring,” retinal whitening, retinal hemorrhages, and cherry red spots. She was diagnosed with bilateral central retinal artery occlusions and was hospitalized due to concomitant diagnosis of stroke and hypercoagulable state. She was also found to be in heart failure and kidney failure. Rheumatology was consulted and she was diagnosed with catastrophic antiphospholipid syndrome in association with systemic lupus erythematosus. Approximately 7 months after presentation, the patient’s vision improved and remained stable at 20/200 and 20/80.

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

    DEFF Research Database (Denmark)

    Rasmussen, Lene Juel; Heinen, Christopher D; Royer-Pokora, Brigitte;

    2012-01-01

    . Also, identifying family members that do not carry the variant is important so they can be released from the intensive surveillance. Determining which genetic variants are pathogenic and which are neutral is a major challenge in clinical genetics. The profound mechanistic knowledge on the genetics...

  14. Fetal-Type Variants of the Posterior Cerebral Artery and Concurrent Infarction in the Major Arterial Territories of the Cerebral Hemisphere

    Directory of Open Access Journals (Sweden)

    Stephen L. Lambert BS

    2016-09-01

    Full Text Available Fetal-type or fetal posterior cerebral artery (FPCA is a variant of cerebrovascular anatomy in which the distal posterior cerebral artery (PCA territory is perfused by a branch of the internal carotid artery (ICA. In the presence of FPCA, thromboembolism in the anterior circulation may result in paradoxical PCA territory infarction with or without concomitant infarction in the territories of the middle (MCA or the anterior (ACA cerebral artery. We describe 2 cases of FPCA and concurrent acute infarction in the PCA and ICA territories—right PCA and MCA in Patient 1 and left PCA, MCA, and ACA in Patient 2. Noninvasive angiography detected a left FPCA in both patients. While FPCA was clearly the mechanism of paradoxical infarction in Patient 2, it turned out to be an incidental finding in Patient 1 when evidence of a classic right PCA was uncovered from an old computed tomography scan image. Differences in anatomical details of the FPCA in each patient suggest that the 2 FPCAs are developmentally different. The FPCA of Patient 1 appeared to be an extension of the embryonic left posterior communicating artery (PcomA. Patient 2 had 2 PCAs on the left (PCA duplication, classic bilateral PCAs, and PcomAs, and absent left anterior choroidal artery (AchoA, suggesting developmental AchoA-to-FPCA transformation on the left. These 2 cases underscore the variable anatomy, clinical significance, and embryological origins of FPCA variants.

  15. Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

    Science.gov (United States)

    Berger, Seth I; Ciccone, Carla; Simon, Karen L; Malicdan, May Christine; Vilboux, Thierry; Billington, Charles; Fischer, Roxanne; Introne, Wendy J; Gropman, Andrea; Blancato, Jan K; Mullikin, James C; Gahl, William A; Huizing, Marjan; Smith, Ann C M

    2017-02-17

    Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases. One candidate variant was located in an alpha helix of Necdin (NDN), phased to the paternally inherited allele. NDN is maternally imprinted within the 15q11.2 Prader-Willi Syndrome (PWS) region. This can help clarify NDN's role in the PWS phenotype. No definitive pathogenic gene variants were detected in the remaining SMS-like cases, but we report our findings for future comparison. This study provides information about the inheritance pattern and recurrence risk for patients with identified variants and demonstrates clinical and genetic overlap of neurodevelopmental disorders. Identification and characterization of ID-related genes that assist in development of common developmental pathways and/or gene-networks, may inform disease mechanism and treatment strategies.

  16. 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

  17. Phlegmonous gastritis secondary to superior mesenteric artery syndrome

    Directory of Open Access Journals (Sweden)

    Kosuke Nomura

    2015-12-01

    Full Text Available We herein report a case of phlegmonous gastritis secondary to superior mesenteric artery syndrome. An 80-year-old woman visited the hospital emergency department with the chief complaints of epigastric pain and vomiting. She was hospitalized urgently following the diagnosis of superior mesenteric artery syndrome based on abdominal computed tomography findings. Conservative therapy was not effective, and phlegmonous gastritis was diagnosed based on the findings of upper gastrointestinal endoscopy and biopsy performed on the 12th day of the disease. Undernutrition and reduced physical activity were observed on hospital admission, and proactive nutritional therapy with enteral nutrition was started. An upper gastrointestinal series, performed approximately 1 month later, confirmed the persistence of strictures and impaired gastric emptying. Because conservative therapy was unlikely to improve oral food intake, open total gastrectomy was performed on the 94th day of the disease. Examination of surgically resected specimens revealed marked inflammation and fibrosis, especially in the body of the stomach. Following a good postoperative recovery, the patient was able to commence oral intake and left our hospital on foot approximately 1 month after surgery.

  18. Are syndromes in environmental medicine variants of somatoform disorders?

    Science.gov (United States)

    Wiesmüller, G A; Ebel, H; Hornberg, C; Kwan, O; Friel, J

    2003-10-01

    To date, relatively little is known about the etiology, pathophysiology, diagnosis, therapy, prevention and prognosis of environment-related syndromes like multiple chemical sensitivity (MCS), idiopathic environmental intolerance (IEI), sick building syndrome (SBS), chronic fatigue syndrome (CFS), candida syndrome (CS) and burnout syndrome (BS). Part of the reason is that these syndromes have not been clearly defined and classified in scientific categories distinct from each other, and that they show clinical similarities to classified somatoform disorders. Furthermore, there are at least three possible explanations for the existence of these syndromes: (1) The syndromes may result from the interaction of environmental factors, individual susceptibility and psychological factors (i.e., how they are perceived and seen by the patient); (2) they may reflect socially and culturally accepted methods of expressing distress; and/or (3) they may be iatrogenic. Despite all the uncertainties in evaluation of environmental syndromes, physicians have the duty to take the affected person's problems seriously. A comprehensive systematic classification which better accounts for these complex clinical manifestations is long overdue. Until these syndromes are well defined, the terms used for them should definitely not be applied to connote a specific disease process.

  19. [Mesenteric traction syndrome during coronary artery bypass graft surgery].

    Science.gov (United States)

    Koyama, K; Kaneko, I; Mori, K

    1997-02-01

    Mesenteric traction syndrome (MTS) consists of decreased systemic vascular resistance, increased cardiac output, facial flushing and palmar erythema. Local production of PGI2 is thought to be the cause. We experienced a rare case of MTS that occurred during coronary artery bypass graft surgery (CABG). A 64-year-old man was scheduled for CABG for the treatment of angina pectoris. Hemodynamic variables were stable until 50 minutes after surgical incision. Blood pressure fell down suddenly from 110/50 to 70/40 mmHg, accompanied by obvious facial flushing and palmar erythema, when the surgeons were preparing the right gastroepiploic artery. Hemodynamic changes and cutaneous hyperemia returned to the baseline level in about 40 minutes. After this episode, the operation was performed uneventfully. The time sequence between the onset of the surgical procedure and the hemodynamic and cutaneous findings strongly suggest the release of PGI2 and MTS. In patients undergoing CABG with the gastroepiploic artery graft, pretreatment with NSAID might avoid sudden circulatory changes of MTS.

  20. 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.

  1. 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

    2013-01-01

    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 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

  2. A case report of patient with cerebellar variant of stiff person syndrome.

    Science.gov (United States)

    Maludzińska, Ewa; Rudzińska, Monika; Stępień, Artur; Szczudlik, Andrzej

    2016-01-01

    Stiff person syndrome (SPS) is a rare autoimmune neurological disorder with antibodies against antigens involved in neurotransmission of gamma-aminobutyric acid (GABA). About 10% of patients with SPS may develop ataxia. This cerebellar variant is a distinct subset of SPS with more severe and complex clinical phenotype. We report the clinical, neuropsychological and neuroradiological findings in a 39-year-old female with cerebellar variant of SPS.

  3. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

    OpenAIRE

    2014-01-01

    Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of micrognathia, condyle dysplasia and question mark ear. Causative variants have been identified in PLCB4, GNAI3 and EDN1, which are predicted to function within the EDN1–EDNRA pathway during early pharyngeal arch patterning. To date, two GNAI3 variants in three families have been reported. Here we report three novel GNAI3 variants, one segregating with affected members in a family previously linked to 1p21.1-...

  4. Relationship between two common lipoprotein lipase variants and the metabolic syndrome and its individual components

    DEFF Research Database (Denmark)

    Vishram, Julie K. K.; Hansen, Tine W.; Torp-Pedersen, Christian

    2016-01-01

    BACKGROUND: Common lipoprotein lipase (LPL) variants are important determinants of triglycerides (TG) and high-density lipoprotein (HDL) cholesterol (C) concentrations. High TG/low HDL-C tend to cluster with hypertension, glucose intolerance, and abdominal obesity and comprise the metabolic...... syndrome (MetS). The role of LPL variants as a cause of MetS is unclear. This study investigated the relationship between two common LPL variants and the presence of MetS and its individual components. METHODS: Cross-sectional study, including 2348 Danish women (50.7%) and men, age 41-72 years, without...

  5. Ophthalmoplegic and lower cranial nerve variants merge into each other and into classical Guillain-Barre syndrome

    NARCIS (Netherlands)

    ter Bruggen, JP; van der Meche, FGA; de Jager, AEJ; Polman, CH

    1998-01-01

    We delineated the place of cranial nerve variants within the concept of clinically defined Guillain-Barre syndrome (GBS), In the ophthalmoplegic variant (n = 7) the oculomotor nerves were early involved, In a lower cranial nerve variant (n = 9) the cranial nerves IX, X, and XI were early involved. D

  6. 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…

  7. Brainstem variant of posterior reversible encephalopathy syndrome: A case report.

    Science.gov (United States)

    Tortora, Fabio; Caranci, Ferdinando; Belfiore, Maria Paola; Manzi, Francesca; Pagliano, Pasquale; Cirillo, Sossio

    2015-12-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological condition, generally observed in conjunction with severe and acute hypertension, that involves mainly the posterior head areas (occipital and temporal lobes) and anterior "watershed" areas. In this syndrome it is rare to observe a predominant involvement of the brainstem. We describe the clinical and radiological findings in a patient with brainstem involvement, discussing its pathophysiological features and possible differential diagnosis.

  8. 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

    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, ...

  9. 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

    2013-08-01

    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.

  10. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

    Science.gov (United States)

    Brady, Paul D; Van Esch, Hilde; Fieremans, Nathalie; Froyen, Guy; Slavotinek, Anne; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris R

    2015-04-01

    Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microphthalmia and additional congenital anomalies including diaphragmatic hernia, spina bifida and cardiac defects. Surprisingly, we identified a maternally inherited variant in PORCN present in both males as well as in two female siblings. This represents the first finding of a PORCN variant in non-mosaic males affected with Goltz-Gorlin syndrome. The apparently asymptomatic mother showed extreme skewing of X-inactivation (90%), an asymptomatic female sibling showed skewing of 88%, and the second female sibling affected with cutis aplasia of the scalp showed X-inactivation considered within the normal range.

  11. A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10).

    Science.gov (United States)

    Song, Seung-Hun; Won, Hyung Jae; Yoon, Tae Ki; Cha, Dong Hyun; Shim, Jeong Yun; Shim, Sung Han

    2013-12-01

    Klinefelter syndrome is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty. It is characterized by infertility, small testes, sparse body and facial hair, increased body weight, gynecomastia, increased LH and FSH, and a low level of testosterone. Early recognition and treatment of Klinefelter syndrome can significantly improve the patient's quality of life and prevent serious consequences. Here, we report an infertile man with a rare variant of Klinefelter syndrome with a 47, XY, i(X)(q10) karyotype.

  12. Coronary artery disease in Alström syndrome.

    Science.gov (United States)

    Jatti, Kumar; Paisey, Richard; More, Ranjit

    2012-01-01

    Alström syndrome (ALMS) is a rare autosomal recessive condition, caused by mutations in the ALMS1 gene located on the short arm of chromosome 2. This gene codes for a protein linked with the centrosome, whose precise function is unknown. This condition was first described by Alström in 1959. ALMS is a multisystem condition that is characterised by childhood onset of blindness secondary to rod-cone retinal degeneration and dilated cardiomyopathy with heart failure, which often presents in infanthood and may recur later in life. Metabolic abnormalities including hypertriglyceridemia, liver steatosis, insulin resistance and type 2 diabetes mellitus are common, often occurring in association with obesity. Other abnormalities include endocrinological disturbances, such as thyroid disorder, growth hormone deficiency, hypogonadism and, in women, hyperandrogenism. This syndrome is also associated with sensorineural hearing loss, renal failure secondary to glomerulo-fibrosis, and fibrotic lung disease. Multiorgan fibrotic infiltration is the common feature in all cases. Considering the history of diabetes, hypertension, dyslipidemia, obesity and renal dysfunction in ALMS, it would be expected that this group of patients could develop coronary artery disease (CAD). But such cases have not been reported so far. We report a case of premature onset of CAD in one of the longest surviving patient with ALMS.

  13. 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.)

  14. Gastric ulcer bleeding from a variant left gastric artery accompanied by congenital absence of the splenic artery successfully treated with coil embolization: a case report and review of the literature.

    Science.gov (United States)

    Namikawa, Masashi; Kakizaki, Satoru; Takakusaki, Satoshi; Saito, Shuichi; Yata, Yutaka; Mori, Masatomo

    2011-12-01

    Endoscopic hemostasis is a useful treatment modality for gastric ulcer bleeding. However, it is sometimes difficult to achieve hemostasis in cases with arterial bleeding, especially those complicated with vascular abnormalities. We describe a case with gastric ulcer bleeding from a variant left gastric artery accompanied by congenital absence of the splenic artery. A 50-year-old female was admitted to our hospital with dizziness and tarry stools. Upper gastrointestinal endoscopy revealed bleeding from a gastric ulcer, and endoscopic hemostasis by endoscopic clipping was carried out. Computed tomography and abdominal angiography revealed the variant left gastric artery running below the gastric ulcer. In spite of endoscopic hemostasis and medication, re-bleeding from the gastric ulcer occurred. A transcatheter coil embolization for the variant left gastric artery was performed and successfully achieved hemostasis. This case was accompanied by congenital absence of the splenic artery, which is an extremely rare condition. We herein describe this rare case and review previously reported cases.

  15. 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 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.

  16. 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.; 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

    2013-01-01

    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

  17. Stenting of Variant Left Carotid Artery Using Brachial Artery Approach in a Patient with Unusual Type of Bovine Aortic Arch

    Directory of Open Access Journals (Sweden)

    Emre Gürel

    2016-01-01

    Full Text Available Bovine aortic arch is the most frequently encountered variation in human aortic arch branching. A 63-year-old Asian male presented with symptomatic severe stenosis of left carotid artery originating from the brachiocephalic trunk. Selective engagement to the left carotid artery was unsuccessful using transfemoral approach. We reported on a successful left carotid artery stenting case using right brachial artery approach in a bovine aortic arch. This paper is worthy of reporting in terms of guiding physicians for interventional procedures in these types of challenging cases.

  18. Genetic variants and the metabolic syndrome: a systematic review

    NARCIS (Netherlands)

    Povel, C.M.; Boer, J.M.; Feskens, E.J.M.

    2011-01-01

    Several candidate gene studies on the metabolic syndrome (MetS) have been conducted. However, for most single nucleotide polymorphisms (SNPs) no systematic review on their association with MetS exists. A systematic electronic literature search was conducted until the 2nd of June 2010, using HuGE Nav

  19. 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

    2012-01-01

    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...

  20. The effects of changes in the metabolic syndrome detection status on arterial stiffening: a prospective study.

    Science.gov (United States)

    Tomiyama, Hirofumi; Hirayama, Yoji; Hashimoto, Hideki; Yambe, Minoru; Yamada, Jiko; Koji, Yutaka; Motobe, Kohki; Shiina, Kazuki; Yamamoto, Yoshio; Yamashinai, Akira

    2006-09-01

    We conducted a prospective study to examine the effects of alterations of the metabolic syndrome detection status on the rate of progression of arterial stiffness, which is recognized as a marker of arterial damage and an indicator of cardiovascular risk. Brachial-ankle pulse wave velocity as an index of arterial stiffening was recorded twice over a 3-year period in 2080 Japanese men (age, 42 +/- 9 years). At the start of the prospective study, pulse wave velocity was higher in the subjects with metabolic syndrome (n=125) than in those without metabolic syndrome (n=1,955) even after adjusting for mean blood pressure. The annual rate of increase of the pulse wave velocity was higher in the group with persistent metabolic syndrome (27 +/- 51 cm/s/year, n=71) than in the group with regression of metabolic syndrome (6 +/- 39 cm/s/year, n=54) or the group in which metabolic syndrome was absent (13 +/- 37 cm/s/year, n=1843; p changes in blood pressure. In conclusion, the changes in the metabolic syndrome detection status of the subjects during the study period affected the annual rate of progression of arterial stiffening, and persistent metabolic syndrome during the study period was associated with acceleration of arterial stiffening in middle-aged Japanese men. On the other hand, resolution of metabolic syndrome may be associated with attenuation of the progression of arterial damage. Therefore, the increased cardiovascular risk associated with the presence of metabolic syndrome may be at least partly mediated by acceleration of the progression of arterial stiffening.

  1. Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Bougioukas Ioannis

    2010-08-01

    Full Text Available Abstract Kartagener syndrome consists of congenital bronchiectasis, sinusitis, and total situs inversus in half of the patients. A patient diagnosed with Kartagener syndrome was reffered to our department due to 3-vessel coronary disease. An off-pump coronary artery bypass operation was performed using both internal thoracic arteries and a saphenous vein graft. We performed a literature review for cases with Kartagener syndrome, coronary surgery and dextrocardia. Although a few cases of dextrocardia were found in the literature, no case of Kartagener syndrome was mentioned.

  2. Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review.

    Science.gov (United States)

    Bougioukas, Ioannis; Mikroulis, Dimitrios; Danner, Bernhard; Lawal, Lukman; Eleftheriadis, Savvas; Bougioukas, George; Didilis, Vassilios

    2010-08-26

    Kartagener syndrome consists of congenital bronchiectasis, sinusitis, and total situs inversus in half of the patients. A patient diagnosed with Kartagener syndrome was referred to our department due to 3-vessel coronary disease. An off-pump coronary artery bypass operation was performed using both internal thoracic arteries and a saphenous vein graft. We performed a literature review for cases with Kartagener syndrome, coronary surgery and dextrocardia. Although a few cases of dextrocardia were found in the literature, no case of Kartagener syndrome was mentioned.

  3. 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.

  4. Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu

    Science.gov (United States)

    Gordhandas, Jeenal A.; Pique, Lynn

    2016-01-01

    We characterized a novel GJB2 missense variant, c.133G>A, p.Gly45Arg, and compared it with the only other variant at the same amino acid position of the connexin 26 protein (Cx26) reported to date: c.134G>A, p.Gly45Glu. Whereas both variants are associated with hearing loss and are dominantly inherited, p.Gly45Glu has been implicated in the rare fatal keratitis-ichthyosis-deafness (KID) syndrome, which results in cutaneous infections and septicemia with premature demise in the first year of life. In contrast, p.Gly45Arg appears to be non-syndromic. Subcellular localization experiments in transiently co-transfected HeLa cells demonstrated that Cx26-WT (wild-type) and p.Gly45Arg form gap junctions, whereas Cx26-WT with p.Gly45Glu protein does not. The substitution of a nonpolar amino acid glycine in wildtype Cx26 at position 45 with a negatively charged glutamic acid (acidic) has previously been shown to interfere with Ca2+ regulation of hemichannel gating and to inhibit the formation of gap junctions, resulting in cell death. The novel variant p.Gly45Arg, however, changes this glycine to a positively charged arginine (basic), resulting in the formation of dysfunctional gap junctions that selectively affect the permeation of negatively charged inositol 1,4,5-trisphosphate (IP3) and contribute to hearing loss. Cx26 p.Gly45Arg transfected cells, unlike cells transfected with p.Gly45Glu, thrived at physiologic Ca2+ concentrations, suggesting that Ca2+ regulation of hemichannel gating is unaffected in Cx26 p.Gly45Arg transfected cells. Thus, the two oppositely charged amino acids that replace the highly conserved uncharged glycine in p.Gly45Glu and p.Gly45Arg, respectively, produce strikingly different effects on the structure and function of the Cx26 protein. PMID:27761313

  5. 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....

  6. 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

  7. Hypothenar hammer syndrome: Distal ulnar artery reconstruction with autologous inferior epigastric artery.

    Science.gov (United States)

    Smith, Hadley E; Dirks, Marco; Patterson, Robert B

    2004-12-01

    Digital artery embolization and ulnar artery thrombosis are consequences of repetitive trauma and can lead to digit loss and debility from ischemia and cold intolerance. We postulate that an arterial autograft is a theoretically superior conduit to traditional saphenous vein, and report reconstruction with inferior epigastric artery. Three adult male smokers, ages 39 to 49 years, had severe digital ischemia and cold-induced vasospasm. Arteriograms confirmed occlusion of the distal ulnar artery without direct perfusion of the superficial palmar arch, distal digital artery embolization, and normal proximal vasculature. All reconstructions were performed from the distal most patent ulnar artery at the wrist to the superficial palmar arch (1 patient) or sequentially to the involved common digital arteries (2 patients), with inferior epigastric artery. Handling characteristics and size match between the arterial autografts and bypassed arteries was excellent. Patency has been confirmed with duplex scanning at follow-up of 8 to 24 months, with resolution of cold intolerance and successful digital preservation.

  8. Spectrum of PEX1 and PEX6 variants in Heimler syndrome

    Science.gov (United States)

    Smith, Claire E L; Poulter, James A; Levin, Alex V; Capasso, Jenina E; Price, Susan; Ben-Yosef, Tamar; Sharony, Reuven; Newman, William G; Shore, Roger C; Brookes, Steven J; Mighell, Alan J; Inglehearn, Chris F

    2016-01-01

    Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects. Recently HS was shown to result from hypomorphic mutations in PEX1 or PEX6, both previously implicated in Zellweger Syndrome Spectrum Disorders (ZSSD). ZSSD are a group of conditions consisting of craniofacial and neurological abnormalities, sensory defects and multi-organ dysfunction. The finding of HS-causing mutations in PEX1 and PEX6 shows that HS represents the mild end of the ZSSD spectrum, though these conditions were previously thought to be distinct nosological entities. Here, we present six further HS families, five with PEX6 variants and one with PEX1 variants, and show the patterns of Pex1, Pex14 and Pex6 immunoreactivity in the mouse retina. While Ratbi et al. found more HS-causing mutations in PEX1 than in PEX6, as is the case for ZSSD, in this cohort PEX6 variants predominate, suggesting both genes play a significant role in HS. The PEX6 variant c.1802G>A, p.(R601Q), reported previously in compound heterozygous state in one HS and three ZSSD cases, was found in compound heterozygous state in three HS families. Haplotype analysis suggests a common founder variant. All families segregated at least one missense variant, consistent with the hypothesis that HS results from genotypes including milder hypomorphic alleles. The clinical overlap of HS with the more common Usher syndrome and lack of peroxisomal abnormalities on plasma screening suggest that HS may be under-diagnosed. Recognition of AI is key to the accurate diagnosis of HS. PMID:27302843

  9. Association between metabolic syndrome, smoking status and coronary artery calcification.

    Science.gov (United States)

    Lee, Yun-Ah; Kang, Sung-Goo; Song, Sang-Wook; Rho, Jun-Seung; Kim, Eun-Kyung

    2015-01-01

    Coronary artery calcification (CAC), an indicator of coronary artery stenosis, is an independent risk factor of ischemic heart disease. Smoking increases the risk of metabolic syndrome (MS) and cardiovascular disease. Almost no previous studies have evaluated the combined effect of MS and smoking status on CAC. Therefore, in this study we examined the relationships between CAC, MS, and smoking. This study included 775 adult males without histories of cardiovascular disease who visited the Health Promotion Center at the University Hospital in Gyeonggi-do, Republic of Korea from January 2, 2010 to December 31, 2012. All subjects were screened for CAC by multi-detector computed tomography (MDCT). CAC increased significantly with age and body mass index (BMI). Among MS components, abdominal obesity and elevated fasting blood glucose were correlated with CAC. After adjusting for age and BMI, MS was associated with a 1.46-fold increase in CAC (95% CI:1.02-2.09), abdominal obesity was associated with a 1.45-fold increase (95% CI:1.04-2.04), elevated fasting blood glucose was associated with a 2-fold increase (95% CI:1.36-2.94), and MS and smoking combined were associated with 2.44-fold increase in CAC. Thus, the combination of smoking and MS had a greater impact on CAC than any single factor alone. MS is correlated with an increased risk of CAC, and a combination of MS and smoking is associated with even greater risk. These findings can be used to prevent cardiovascular disease in adults.

  10. 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.

  11. 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.)

  12. Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes–Brocks Syndrome

    Science.gov (United States)

    Webb, Bryn D.; Metikala, Sanjeeva; Wheeler, Patricia G.; Sherpa, Mingma D.; Houten, Sander M.; Horb, Marko E.; Schadt, Eric E.

    2017-01-01

    A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419* variant segregated appropriately in the family consistent with an autosomal dominant mode of inheritance. DACT1 is a member of the Wnt-signaling pathway, and mice homozygous for null alleles display multiple congenital anomalies including absent anus with blind-ending colon and genitourinary malformations. To investigate the DACT1 c.1256G>A variant, HEK293 cells were transfected with mutant DACT1 cDNA plasmid, and immunoblotting revealed stability of the DACT1 p.Trp419* protein. Overexpression of DACT1 c.1256G>A mRNA in Xenopus embryos revealed a specific gastrointestinal phenotype of enlargement of the proctodeum. Together, these findings suggest that the DACT1 c.1256G>A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes–Brocks syndrome. PMID:28054444

  13. Isolated Facial Vein Thrombophlebitis: A Variant of Lemierre Syndrome

    DEFF Research Database (Denmark)

    Karnov, Kirstine KS; Lilja-Fischer, Jacob Kinggaard; Randrup, Thomas Skov

    2014-01-01

    Lemierre syndrome is a rare complication of acute tonsillitis. It is caused by the anaerobic bacterium Fu- sobacterium necrophorum and is characterized by bacteremia and septic thrombosis of the internal jug- ular vein. Dissemination of septic emboli may occur. The diagnosis can be difficult since...... different organs can be involved. We discuss a case of Lemierre syn- drome in a 35-year-old woman with isolated throm- bophlebitis of the facial vein and fusobacteria growth in blood culture. This case emphasizes the need for awareness of the condition....

  14. Spontaneous Coronary Artery Dissection in a Male Patient with Takayasu's Arteritis and Antiphospholipid Antibody Syndrome.

    Science.gov (United States)

    Gerede, Demet Menekşe; Yüksel, Bağdagül; Tutar, Eralp; Küçükşahin, Orhan; Uzun, Cağlar; Atasoy, Kayhan Çetin; Düzgün, Nurşen; Bengisun, Uğur

    2013-01-01

    We present a case of a 34-year-old male who presented to the emergency ward with fever and abdominal pain. The diagnosis of Takayasu's arteritis and also antiphospholipid syndrome was made during an imaging workup of deep-vein thrombosis. A spontaneous coronary artery dissection was revealed in coronary CT angiography requested for chest pain and dyspnea. The patient was treated medically and discharged on close followup. The concurrence of spontaneous coronary artery dissection with antiphospholipid syndrome and Takayasu's arteritis has not been reported in the previous literature. The possibility of a spontaneous coronary artery dissection should be considered in patients presenting with both diseases.

  15. Elevated estimated arterial age is associated with metabolic syndrome and low-grade inflammation

    DEFF Research Database (Denmark)

    Greve, Sara V; Blicher, Marie K; Kruger, Ruan

    2016-01-01

    BACKGROUND: Arterial age can be estimated from equations relating arterial stiffness to age and blood pressure in large cohorts. We investigated whether estimated arterial age (eAA) was elevated in patients with the metabolic syndrome and/or known cardiovascular disease (CVD), which factors were...... of metabolic syndrome, Systematic COronary Risk Evaluation, or Framingham risk score. From age, mean blood pressure, and cfPWV, eAA and estimated cfPWV (ePWV) were calculated. In 2006, the combined cardiovascular endpoint (CEP) of cardiovascular death, nonfatal myocardial infarction, nonfatal stroke...

  16. A Rare Variant of the Ulnar Artery with Important Clinical Implications: a Case Report

    OpenAIRE

    Casal Diogo; Pais Diogo; Toscano Tiago; Bilhim Tiago; Rodrigues Luís; Figueiredo Inês; Aradio Sónia; Angélica-Almeida Maria; Goyri-O’Neill João

    2012-01-01

    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 elb...

  17. 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

    In many individuals suspected of the common cancer predisposition Lynch syndrome, variants of unclear significance (VUS), rather than an obviously pathogenic mutations, are identified in one of the DNA mismatch repair (MMR) genes. The uncertainty of whether such VUS inactivate MMR, and therefore....... 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 model...

  18. Bullous Variant of Sweet’s Syndrome after Herpes Zoster Virus Infection

    OpenAIRE

    2011-01-01

    Aim: Cutaneous manifestations of Sweet’s syndrome (SS) are typically painful plaque-forming erythematous papules, while bullae are quite uncommon. We present a case of bullous variant of SS in acute myeloid leukaemia. In this case, herpes infection of the left mandible had preceded the development of SS. Case Report: A 75-year-old male with myelodysplastic syndrome first presented with herpes zoster virus infection-like bullae and erosive plaques on the left side of the face and neck. Treatme...

  19. 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.

  20. Paroxysmal posterior variant alien hand syndrome associated with parietal lobe infarction: case presentation.

    Science.gov (United States)

    Demiryürek, Bekir Enes; Gündogdu, Aslı Aksoy; Acar, Bilgehan Atılgan; Alagoz, Aybala Neslihan

    2016-10-01

    Alien hand syndrome (AHS) is an involuntary and rare neurological disorder emerges at upper extremity. AHS is a disconnection syndrome with the symptoms of losing sense of agency and sense of ownership, and presence of involuntary autonomic motor activity. There are frontal, callosal and posterior types of AHS and each of them occurs depend on the lesions of different of the brain. Posterior variant is a rarely encountered AHS type compared to others. AHS, generally regarded as persistent, but rarely maybe observed as paroxysmal. In this article, we present 71 year old patient with right posterior parietal lobe infarction and developed posterior variant AHS on left arm 1 month after discharge from the hospital. To discriminate AHS from conditions such as extrapyramidal movement disorders and epileptic seizures that take part in differential diagnosis should be kept in mind by the clinicians. Wrong and unnecessary treatments could be prevented in this way.

  1. Eisenmenger syndrome and idiopathic pulmonary arterial hypertension: do parenchymal lung changes reflect aetiology?

    Energy Technology Data Exchange (ETDEWEB)

    Griffin, N. [Royal Brompton and Harefield NHS Trust, London (United Kingdom)]. E-mail: nyreegriffin@hotmail.com; Allen, D. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Wort, J. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Rubens, M. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Padley, S. [Royal Brompton and Harefield NHS Trust, London (United Kingdom)

    2007-06-15

    Aim: To document the pulmonary vascular changes on thin-section computed tomography (CT) in patients with Eisenmenger syndrome and idiopathic pulmonary arterial hypertension, and to determine whether there is any correlation with pulmonary arterial pressures or the aetiology of pulmonary hypertension. Material and methods: From the National Pulmonary Hypertension Database, we identified eight patients with idiopathic pulmonary arterial hypertension and 20 patients with Eisenmenger syndrome (secondary to a ventriculoseptal defect) who had also undergone contrast-enhanced thin-section CT. CT studies were reviewed for the presence of centrilobular nodules, mosaicism, neovascularity, and bronchial artery hypertrophy. Haemodynamic data were also reviewed. Results: Centrilobular nodules, mosaicism, and neovascularity were seen in both patient groups (p > 0.05). A significantly higher number of enlarged bronchial arteries were seen in patients with Eisenmenger syndrome. There was no correlation with pulmonary arterial pressures. Conclusion: Patients with idiopathic pulmonary arterial hypertension and Eisenmenger syndrome demonstrated similar pulmonary vascular changes on CT. These changes did not predict the underlying cause of pulmonary hypertension or its severity.

  2. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Puippe, Gilbert D., E-mail: gilbert.puippe@usz.ch [Institute for Diagnostic and Interventional Radiology, University Hospital Zurich, Switzerland, Raemistrasse 100, CH-8091 Zurich (Switzerland); Alkadhi, Hatem, E-mail: hatem.alkadhi@usz.ch [Institute for Diagnostic and Interventional Radiology, University Hospital Zurich, Switzerland, Raemistrasse 100, CH-8091 Zurich (Switzerland); Hunziker, Roger, E-mail: roger.hunziker@usz.ch [Institute for Diagnostic and Interventional Radiology, University Hospital Zurich, Switzerland, Raemistrasse 100, CH-8091 Zurich (Switzerland); Nanz, Daniel, E-mail: daniel.nanz@usz.ch [Institute for Diagnostic and Interventional Radiology, University Hospital Zurich, Switzerland, Raemistrasse 100, CH-8091 Zurich (Switzerland); Pfammatter, Thomas, E-mail: thomas.pfammatter@usz.ch [Institute for Diagnostic and Interventional Radiology, University Hospital Zurich, Switzerland, Raemistrasse 100, CH-8091 Zurich (Switzerland); Baumueller, Stephan, E-mail: stephan.baumueller@usz.ch [Institute for Diagnostic and Interventional Radiology, University Hospital Zurich, Switzerland, Raemistrasse 100, CH-8091 Zurich (Switzerland)

    2012-08-15

    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 Degree-Sign ) and unenhanced-MRA (TR/TE 4.4/2.2 ms, TI 200 ms, flip-angle 90 Degree-Sign ). 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 ({kappa} = 0.77) and excellent for unenhanced-MRA ({kappa} = 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.

  4. Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome

    NARCIS (Netherlands)

    Wijnen, Juul T.; Brohet, Richard M.; Van Eijk, Ronald; Jagmohan-Changur, Shanty; Middeldorp, Anneke; Tops, Carli M.; Van Puijenbroek, Mario; Ausems, Margreet G. E. M.; Garcia, Encarna Gomez; Hes, Frederik J.; Hoogerbrugge, Nicoline; Menko, Fred H.; Van Os, Theo A. M.; Sijmons, Rolf H.; Verhoef, Senno; Wagner, Anja; Nagengast, Fokko M.; Kleibeuker, Jan H.; Devilee, Peter; Morreau, Hans; Goldgar, David; Tomlinson, Ian P.; Houlston, Richard S.; Van Wezel, Tom; Vasen, Hans F. A.

    2009-01-01

    Background & Aims: Recent genome-wide association studies have identified common low-risk variants for colorectal cancer (CRC). To assess whether these influence CRC risk in the Lynch syndrome, we genotyped these variants in a large series of proven mutation carriers. Methods: We studied 675 individ

  5. Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?

    Science.gov (United States)

    Pierquin, G; Seligmann, R; Van Regemorter, N

    1992-01-01

    In this report, we describe three sibs presenting an identical malformation syndrome i.e.: acrocephaly, brachydactyly, prominent metopic ridge, broad depressed nasal bridge, narrow maxillae, obesity and normal intelligence. We discuss the relationship between this combination of clinical signs and symptoms most compatible with the diagnosis of Summitt syndrome and the Carpenter syndrome.

  6. Pediatric Balint's Syndrome Variant: A Possible Diagnosis in Children

    Science.gov (United States)

    Mani, Sunithi Elizabeth; Dutton, Gordon N.

    2016-01-01

    Balint's syndrome is well described in adults, but not in children. It is caused by bilateral posterior parietal lobe damage and comprises a triad of simultanagnosia (inability to simultaneously see more than a small number of items), optic ataxia (impaired visual guidance of movement of the limbs and body), and apraxia of gaze (inability to volitionally direct gaze despite the requisite motor substrate) often associated with homonymous lower visual field loss. We, here, describe five children (four males, one female; mean age 7.4 years, [range 4−11 years]; birth weight ≤ 2.5 kg; four were born ≤ 36 weeks of gestational age and one at 40 weeks) who presented to the Cerebral Visual Impairment Clinic at a tertiary care center in South India with clinical features remarkably consistent with the above description. In all children neuroimaging showed bilateral parietooccipital gliosis with regional white matter volume loss and focal callosal thinning, consistent with perinatal hypoxic ischemic encephalopathy and possible neonatal hypoglycemia. PMID:27895948

  7. Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

    Science.gov (United States)

    Rea, Gillian; Homfray, Tessa; Till, Jan; Roses-Noguer, Ferran; Buchan, Rachel J.; Wilkinson, Sam; Wilk, Alicja; Walsh, Roddy; John, Shibu; McKee, Shane; Stewart, Fiona J.; Murday, Victoria; Taylor, Robert W.; Ashworth, Michael; Baksi, A. John; Daubeney, Piers; Prasad, Sanjay; Barton, Paul J.R.; Cook, Stuart A.; Ware, James S.

    2017-01-01

    Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an additional case of histiocytoid CM, which carries a de novo nonsense variant in NDUFB11 (ENST00000276062.8: c.262C > T; p.[Arg88*]) identified using whole-exome sequencing (WES) of a family trio. An identical variant has been previously reported in association with MLS syndrome. The case we describe here lacked the diagnostic features of MLS syndrome, but a detailed clinical comparison of the two cases revealed significant phenotypic overlap. Heterozygous variants in HCCS (which encodes an important mitochondrially targeted protein) and COX7B, which, like NDUFB11, encodes a protein of the MRC, have also previously been identified in MLS syndrome including a case with features of both MLS syndrome and histiocytoid CM. However, a systematic review of WES data from previously published histiocytoid CM cases, alongside four additional cases presented here for the first time, did not identify any variants in these genes. We conclude that NDUFB11 variants play a role in the pathogenesis of both histiocytoid CM and MLS and that these disorders are allelic (genetically related). PMID:28050600

  8. Arcuate ligament syndrome inducing hepatic artery thrombosis after liver transplantation

    Institute of Scientific and Technical Information of China (English)

    Zhi-Jun Jiang; Ting-Bo Liang; Xiao-Ning Feng; Wei-Lin Wang; Yan Shen; Min Zhang; Jian Wu; Xiao Xu; Shu-Sen Zheng

    2008-01-01

    BACKGROUND: Hepatic artery thrombosis (HAT) is a frequent complication following liver transplantation, but it is rarely caused by arcuate ligament compression of the celiac artery. This article mainly describes our experience in managing a patient with celiac artery stenosis and HAT after liver transplantation. METHODS: A 44-year-old man with a 15-year history of hepatitis B was admitted to our hospital for hepatocellular carcinoma. Before the operation, he received trans-arterial chemoembolization once, and pretransplant MR angiography indicated a suspected stenosis at the initiation of the celiac artery, while color Doppler showed normal blood lfow in the arterial system. In this case, orthotopic liver transplantation was performed for radical cure of hepatocellular carcinoma. However, B-ultrasonography detected poor blood lfow in the intra- and extra-hepatic artery on the ifrst posttransplant day, and during exploratory laparotomy a thrombus was found in the hepatic artery. Thus, re-transplantation was conducted with a bypass between the graft hepatic artery and the recipient abdominal aorta with the donor's splenic artery. RESULTS: The patient made an uneventful recovery and color Doppler showed good blood lfow in the artery and portal system. Histology conifrmed extensive thrombosis in the left and right hepatic artery of the explanted graft, indicating HAT. CONCLUSIONS: Although HAT caused by celiac trunk compression is rarely reported in liver transplantation, the diagnosis should be considered in patients with pretransplant hepatic artery stenosis on angiography and abnormal blood lfow on B-ultrasonography. Once HAT is formed, treatment such as thrombectomy or re-transplantation should be performed as early as possible.

  9. Auriculotemporal (Frey) syndrome in late childhood: an unusual variant presenting as gustatory flushing mimicking food allergy.

    Science.gov (United States)

    Kaddu, S; Smolle, J; Komericki, P; Kerl, H

    2000-01-01

    Auriculotemporal or Frey syndrome is characterized mainly by recurrent episodes of facial gustatory flushing and/or sweating, limited to the cutaneous distribution of the auriculotemporal nerve. Although relatively common in adults following injury to the auriculotemporal nerve or parotid disease, the condition has rarely been reported in children. Moreover, in childhood, auriculotemporal syndrome has been described mainly in infancy and early childhood as a sequel of perinatal birth trauma resulting from assisted forceps delivery. We report a 13-year-old girl with a 2-month history of recurrent, painless, preauricular gustatory flushing without sweating, initially suspected to be a food allergy. Detailed inquiry revealed a history of a bicycle accident with mandibular condyle fracture 7 years prior to the onset of symptoms. Our patient demonstrates an unusual presentation of auriculotemporal syndrome in late childhood as gustatory flushing mimicking food allergy. Awareness of this variant is essential for prompt recognition, thus avoiding unnecessary laboratory tests, especially as this condition usually resolves spontaneously.

  10. Familial antiphospholipid syndrome presenting as bivessel arterial occlusion in a 17-year-old girl.

    Science.gov (United States)

    Jelušić, Marija; Starčević, Katarina; Vidović, Mandica; Dobrota, Savko; Potočki, Kristina; Banfić, Ljiljana; Anić, Branimir

    2013-05-01

    This article presents a case of a 17-year-old girl with primary antiphospholipid syndrome developing subacute signs of hand and leg ischaemia caused by radiologically verified radial and popliteal artery occlusion. She is successfully treated with a thrombolytic agent (alteplase) and recovers completely. Her laboratory results came positive for all three subtypes of antiphospholipid antibodies. This kind of antiphospholipid syndrome presentation is a very rare entity in itself. Shortly afterwards her mother is diagnosed with primary antiphospholipid syndrome as well. A familial form of antiphospholipid syndrome is suspected. Combination of a familial antiphospholipid syndrome presenting as bivessel arterial thrombosis is a unique case, to the best of our knowledge, never described in the literature before.

  11. 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.

  12. An Overlapping Case of Miller Fisher Syndrome, Bickerstaff’s Encephalitis, and the ASMAN Variant of Guillain-Barre Syndrome

    Directory of Open Access Journals (Sweden)

    E. J. Pegg

    2016-01-01

    Full Text Available A 56-year-old man presented with a 3-day history of progressive tingling of the hands, unsteadiness, and diplopia. He was initially diagnosed clinically with Miller Fisher Syndrome (MFS but later developed limb weakness consistent with Guillain-Barre Syndrome (GBS and subsequently reduced consciousness consistent with Bickerstaff’s brainstem encephalitis (BBE. Neurophysiology revealed an axonal motor and sensory neuropathy, in keeping with the Acute Motor and Sensory Axonal Neuropathy (AMSAN variant of GBS. We believe that our patient had an MFS-AMSAN-BBE overlap syndrome. This is supported by his glycolipid antibody profile with high titres of anti-GQ1b IgG antibody and anti-GD1a IgG antibody. Anti-GQ1b antibodies are frequently found in both MFS and BBE and the anti-GD1a antibody is associated with axonal forms of GBS. Overlapping cases of MFS and BBE are well described, and because the same antibody is often found in both conditions, it is thought that they share a common autoimmune mechanism. BBE has also been previously reported in association with GBS lending support that it also lies on the same spectrum. This overlapping case of ASMAN variant of GBS, MFS, and BBE provides further support that these conditions are part of the same spectrum.

  13. 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...

  14. Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.

    Science.gov (United States)

    Yasar, Binnaz; Byers, Helen J; Smith, Miriam J; Lear, John; Oudit, Deemesh; Bholah, Zaynab; Roberts, Stephen A; Newman, William G; Evans, D Gareth

    2015-05-01

    Gorlin syndrome is an autosomal dominant disorder, characterized by multiple early-onset basal cell carcinomas (BCCs) and jaw keratocysts. Through association studies in cohorts of sporadic BCC, nine genetic variants have previously been identified to increase the risk of BCC. The nine SNPs were genotyped by Taqman allelic discrimination in 125 individuals with Gorlin syndrome. Kaplan-Meier survival curves and Cox proportional-Hazard regression analysis were applied to determine the association between genotypes and age of first BCC in individuals with Gorlin syndrome. The p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier median age of onset of BCC of 27 years (95% CI: 20-34) compared with 34 years (95% CI: 30-40) for wild-type individuals (hazard ratio (HR)=1.64, 95% CI: 1.04-2.58, P=0.034). The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was also associated with an earlier median onset of BCC, 31 years (95% CI: 28-37) compared with 41 years (95% CI: 32-48, HR=1.44, 95% CI: 1.08-1.93, P=0.014). In individuals with a risk allele at either rs1805007 or rs401681 the median time to BCC was 31 years of age (95% CI: 28-34) compared with 44 years of age (95% CI: 38-53) in wild-type individuals (HR=2.48, 95% CI: 1.47-4.17, P=0.0002). Our findings may have implications for future personalized risk estimates and BCC screening strategies in individuals with Gorlin syndrome.

  15. Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells

    Science.gov (United States)

    Braune, Katarina; Volkmer, Ines

    2017-01-01

    The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms. ALMS1 mutations cause Alstrom syndrome, a rare genetic disorder. However, its function is not completely understood. DNA microarray analysis suggested that ALMS1 might be differentially expressed between Hodgkin lymphoma (HL) cells and normal tissues. By using reverse transcription-polymerase chain reaction (RT-PCR) we detected low but variable expression of ALMS1 in HL cell lines with highest expression in KM-H2 cells. Immunofluorescence indicated centrosomal accumulation of ALMS1 protein in HL cells. Knock-down of ALMS1 in KM-H2 cells had no impact on viability or cytotoxic drug sensitivity of these cells. Sequencing of RT-PCR products from HL cell lines identified three variable regions in ALMS1 transcripts that affect exons 2, 13, and 23. One of these variants was characterized by splicing out of exon 13. The other variants are characterized by two alternative 5 prime ends or alternative 3 prime ends. Structure prediction of the corresponding RNAs and proteins suggest that the different transcript variants might affect posttranscriptional regulation and ligand binding. PMID:28135309

  16. α1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium Current.

    Science.gov (United States)

    Choi, Jong-Il; Wang, Chaojian; Thomas, Matthew J; Pitt, Geoffrey S

    2016-01-01

    Drug-induced long-QT syndrome (diLQTS) is often due to drug block of IKr, especially in genetically susceptible patients with subclinical mutations in the IKr-encoding KCHN2. Few variants in the cardiac NaV1.5 Na+ channel complex have been associated with diLQTS. We tested whether a novel SNTA1 (α1-syntrophin) variant (p.E409Q) found in a patient with diLQTS increases late sodium current (INa-L), thereby providing a disease mechanism. Electrophysiological studies were performed in HEK293T cells co-expressing human NaV1.5/nNOS/PMCA4b with either wild type (WT) or SNTA1 variants (A390V-previously reported in congenital LQTS; and E409Q); and in adult rat ventricular cardiomyocytes infected with SNTA1 expressing adenoviruses (WT or one of the two SNTA1 variants). In HEK293T cells and in cardiomyocytes, there was no significant difference in the peak INa densities among the SNTA1 WT and variants. However, both variants increased INa-L (% of peak current) in HEK293T cells (0.58 ± 0.10 in WT vs. 0.90 ± 0.11 in A390V, p = 0.048; vs. 0.88 ± 0.07 in E409Q, p = 0.023). In cardiomyocytes, INa-L was significantly increased by E409Q, but not by A390V compared to WT (0.49 ± 0.14 in WT vs.0.94 ± 0.23 in A390V, p = 0.099; vs. 1.12 ± 0.24 in E409Q, p = 0.019). We demonstrated that a novel SNTA1 variant is likely causative for diLQTS by augmenting INa-L. These data suggest that variants within the NaV1.5-interacting α1-syntrophin are a potential mechanism for diLQTS, thereby expanding the concept that variants within congenital LQTS loci can cause diLQTS.

  17. α1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium Current.

    Directory of Open Access Journals (Sweden)

    Jong-Il Choi

    Full Text Available Drug-induced long-QT syndrome (diLQTS is often due to drug block of IKr, especially in genetically susceptible patients with subclinical mutations in the IKr-encoding KCHN2. Few variants in the cardiac NaV1.5 Na+ channel complex have been associated with diLQTS. We tested whether a novel SNTA1 (α1-syntrophin variant (p.E409Q found in a patient with diLQTS increases late sodium current (INa-L, thereby providing a disease mechanism. Electrophysiological studies were performed in HEK293T cells co-expressing human NaV1.5/nNOS/PMCA4b with either wild type (WT or SNTA1 variants (A390V-previously reported in congenital LQTS; and E409Q; and in adult rat ventricular cardiomyocytes infected with SNTA1 expressing adenoviruses (WT or one of the two SNTA1 variants. In HEK293T cells and in cardiomyocytes, there was no significant difference in the peak INa densities among the SNTA1 WT and variants. However, both variants increased INa-L (% of peak current in HEK293T cells (0.58 ± 0.10 in WT vs. 0.90 ± 0.11 in A390V, p = 0.048; vs. 0.88 ± 0.07 in E409Q, p = 0.023. In cardiomyocytes, INa-L was significantly increased by E409Q, but not by A390V compared to WT (0.49 ± 0.14 in WT vs.0.94 ± 0.23 in A390V, p = 0.099; vs. 1.12 ± 0.24 in E409Q, p = 0.019. We demonstrated that a novel SNTA1 variant is likely causative for diLQTS by augmenting INa-L. These data suggest that variants within the NaV1.5-interacting α1-syntrophin are a potential mechanism for diLQTS, thereby expanding the concept that variants within congenital LQTS loci can cause diLQTS.

  18. 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.

  19. Percutaneous transhepatic venous embolization of pulmonary artery aneurysm in Hughes-Stovin syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Kyung Ah; Kim, Man Deuk; Oh, Do Yun; Park, Pil Won [Bundang CHA General Hospital, Pochon CHA University, Seongnam (Korea, Republic of)

    2007-08-15

    Hughes-Stovin syndrome is an extremely rare entity. We present a case of a 42-year-old man, who developed deep vein and inferior vena cava (IVC) thrombosis, repeated internal bleeding and pulmonary artery aneurysms (PAAs). The patient presented with massive hemoptysis and with PAAs of a 2.5 cm maximum diameter. We describe the successful percutaneous transhepatic venous embolization of the PAAs due to occluded common vascular pathways to the pulmonary artery.

  20. 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.

  1. 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.

  2. Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.

    Science.gov (United States)

    Perreault-Micale, Cynthia; Frieden, Alexander; Kennedy, Caleb J; Neitzel, Dana; Sullivan, Jessica; Faulkner, Nicole; Hallam, Stephanie; Greger, Valerie

    2014-11-01

    Loss of function variants in the PCDH15 gene can cause Usher syndrome type 1F, an autosomal recessive disease associated with profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa. The Ashkenazi Jewish population has an increased incidence of Usher syndrome type 1F (founder variant p.Arg245X accounts for 75% of alleles), yet the variant spectrum in a panethnic population remains undetermined. We sequenced the coding region and intron-exon borders of PCDH15 using next-generation DNA sequencing technology in approximately 14,000 patients from fertility clinics. More than 600 unique PCDH15 variants (single nucleotide changes and small indels) were identified, including previously described pathogenic variants p.Arg3X, p.Arg245X (five patients), p.Arg643X, p.Arg929X, and p.Arg1106X. Novel truncating variants were also found, including one in the N-terminal extracellular domain (p.Leu877X), but all other novel truncating variants clustered in the exon 33 encoded C-terminal cytoplasmic domain (52 patients, 14 variants). One variant was observed predominantly in African Americans (carrier frequency of 2.3%). The high incidence of truncating exon 33 variants indicates that they are unlikely to cause Usher syndrome type 1F even though many remove a large portion of the gene. They may be tolerated because PCDH15 has several alternate cytoplasmic domain exons and differentially spliced isoforms may function redundantly. Effects of some PCDH15 truncating variants were addressed by deep sequencing of a panethnic population.

  3. Variant form of STAT4 is associated with primary Sjögren's syndrome.

    Science.gov (United States)

    Korman, B D; Alba, M I; Le, J M; Alevizos, I; Smith, J A; Nikolov, N P; Kastner, D L; Remmers, E F; Illei, G G

    2008-04-01

    Single nucleotide polymorphisms in the STAT4 gene have recently been shown to be associated with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Primary Sjögren's syndrome (pSS) is a related autoimmune disease thought to have a pathogenesis similar to these diseases. To test the hypothesis that the variant haplotype of STAT4 seen in RA and SLE is also associated with pSS, we genotyped rs7574865, the most strongly disease-associated SNP in the variant STAT4 haplotype, in 124 Caucasian pSS subjects and compared them to 1143 Caucasian controls. The disease-associated T allele was more common in chromosomes of the pSS patients (29.6%) than in controls (22.3%), leading to a P-value for association of 0.01. These results implicate polymorphisms in the STAT4 gene in the pathogenesis of pSS.

  4. 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.)

  5. 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.

  6. Popliteal Artery Entrapment Syndrome Presenting with Acute Limb Ischaemia: A Case Report

    Directory of Open Access Journals (Sweden)

    Ramawad Soobrah

    2010-01-01

    Full Text Available Popliteal artery entrapment syndrome (PAES is a relatively rare condition that occurs in young patients as a result of anomalous anatomic relationships between the popliteal artery and the surrounding musculotendinous structures. Patients usually lack atherogenic risk factors and most commonly present with intermittent claudication in the early stages. In the later stages of undiagnosed PAES, acute ischaemia can occur as a result of complete arterial occlusion or embolism. Hence, early diagnosis and surgical release of the entrapment is crucial for good operative outcome and to prevent limb loss.

  7. Bilateral internal carotid artery occlusion associated with the antiphospholipid antibody syndrome.

    Science.gov (United States)

    Anand, Pria; Mann, Sharan K; Fischbein, Nancy J; Lansberg, Maarten G

    2014-01-01

    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.

  8. Spectrum of migraine variants and beyond: The individual syndromes in children.

    Science.gov (United States)

    Gupta, Surya N; Gupta, Vikash S; Borad, Nirali

    2016-01-01

    "Migraine-related conditions" are probably the second most common condition after seizure encountered in pediatric neurology requiring frequent Emergency Department visits. Among migraines, migraine-related condition presents with an acute onset sign or symptom other than headache or visual aura of unknown etiology. A delay in diagnosis is a common occurrence. Previously, the authors proposed a common clinical profile and suggested that the future review should seek the applicability of the common profile in aid to clinical diagnosis of migraine-related individual syndromes. Authors describe the clinical characteristics and differential diagnosis of the spectrum of migraine variants and beyond in children.

  9. 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.

  10. Congenital Horner Syndrome with Heterochromia Iridis Associated with Ipsilateral Internal Carotid Artery Hypoplasia

    OpenAIRE

    Deprez, Fabrice; Coulier, Julie; Rommel, Denis; Boschi, Antonella

    2014-01-01

    Background: Horner syndrome (HS), also known as Claude-Bernard-Horner syndrome or oculosympathetic palsy, comprises ipsilateral ptosis, miosis, and facial anhidrosis. Case Report: We report herein the case of a 67-year-old man who presented with congenital HS associated with ipsilateral hypoplasia of the internal carotid artery (ICA), as revealed by heterochromia iridis and confirmed by computed tomography (CT). Conclusions: CT evaluation of the skull base is essential to establish this diagn...

  11. Use of adrenal arterial embolization in severe ACTH-dependent Cushing's syndrome.

    OpenAIRE

    Blunt, S B; Pirmohamed, M.; Chatterjee, V K; Burrin, J. M.; Allison, D J; Joplin, G. F.

    1989-01-01

    The management of a patient with severe Cushing's syndrome due to ectopic ACTH produced by a medullary carcinoma of the thyroid is described. Initial treatment with maximal adrenolytic medical therapy and two attempts at bilateral adrenal venous infarction had failed to control the disease, and she was at that time unfit for surgery. Subsequent use of bilateral adrenal arterial embolization enabled medical therapy to produce sufficient control of the Cushing's syndrome to allow bilateral adre...

  12. Slowly progressive anarthria with late anterior opercular syndrome: a variant form of frontal cortical atrophy syndromes.

    Science.gov (United States)

    Broussolle, E; Bakchine, S; Tommasi, M; Laurent, B; Bazin, B; Cinotti, L; Cohen, L; Chazot, G

    1996-12-01

    We describe eight patients with slowly progressive speech production deficit combining speech apraxia, dysarthria, dysprosody and orofacial apraxia, and initially no other deficit in other language and non-language neuropsychological domains. Long-term follow-up (6-10 years) in 4 cases showed an evolution to muteness, bilateral suprabulbar paresis with automatic-voluntary dissociation and frontal lobe cognitive slowing without generalised intellectual deterioration. Most disabled patients presented with an anterior opercular syndrome (Foix-Chavany-Marie syndrome), and pyramidal or extrapyramidal signs. CT and MRI findings disclosed asymmetric (left > right) progressive cortical atrophy of the frontal lobes predominating in the posterior inferior frontal region, notably the operculum. SPECT and PET revealed a decreased cerebral blood flow and metabolism, prominent in the left posterior-inferior frontal gyrus and premotor cortex, extending bilaterally in the most advanced cases. Pathological study of two cases showed non-specific neuronal loss, gliosis, and spongiosis of superficial cortical layers, mainly confined to the frontal lobes, with no significant abnormalities in the basal ganglia, thalamus, cerebellum, brain stem (except severe neuronal loss in the substantia nigra in one case), and spinal cord. We propose to call this peculiar syndrome Slowly Progressive Anarthria (SPA), based on its specific clinical presentation, and its metabolic and pathological correlates. SPA represents another clinical expression of focal cortical degeneration syndromes, that may overlap with other similar syndromes, specially primary progressive aphasia and the various frontal lobe dementias.

  13. 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.)

  14. 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

  15. High absolute risks and predictors of venous and arterial thromboembolic events in patients with nephrotic syndrome

    NARCIS (Netherlands)

    Mahmoodi, Bakhtawar K.; ten Kate, Min Ki; Waanders, Femke; Veeger, Nic J. G. M.; Brouwer, Jan-Leendert P.; Vogt, Liffert; Navis, Gerjan; van der Meer, Jan

    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 V

  16. Pregnancy risks in women with pre-existing coronary artery disease, or following acute coronary syndrome

    NARCIS (Netherlands)

    Burchill, Luke J.; Lameijer, Heleen; Roos-Hesselink, Jolien W.; Grewal, Jasmine; Ruys, Titia P. E.; Kulikowski, Julia D.; Burchill, Laura A.; Oudijk, M. A.; Wald, Rachel M.; Colman, Jack M.; Siu, Samuel C.; Pieper, Petronella G.; Silversides, Candice K.

    2015-01-01

    Objective The objective of this study was to determine outcomes in pregnant women with pre-existing coronary artery disease (CAD) or following an acute coronary syndrome (ACS) including myocardial infarction (MI). Background The physiological changes of pregnancy can contribute to myocardial ischaem

  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. Off-pump coronary artery bypass in poland syndrome with dextrocardia: case report

    Directory of Open Access Journals (Sweden)

    More Ranjit

    2011-05-01

    Full Text Available Abstract Poland Syndrome is a congenital disorder characterised by hypoplasia of the pectoral muscles along with upper extremity deformities. We encountered a patient with Poland syndrome associated with dextrocardia and also failed pectus excavatum repairs who presented to us with symptomatic ischaemic heart disease requiring intervention. He underwent successful off-pump coronary artery bypass surgery (OPCABG. As far as we are aware, this is the first case report of OPCABG in a case of Poland syndrome with dextrocardia. We describe here the management of this complex patient and wish to emphasise that the off-pump option is feasible in dextrocardia with some technical modifications.

  19. A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome

    DEFF Research Database (Denmark)

    Breinbjerg, Anders; Rittig, Charlotte Siggaard; Gregersen, Niels;

    2016-01-01

    , followed by bi-directional direct deoxyribonucleic acid sequencing. RESULTS: Each affected child in the two families were homozygous for a novel inherited variant in the SLC12A1gene, c.1614T>A. The variant predicts a change from a tyrosine codon to a stop codon (p.Tyr538Ter). The two cases presented....... The phenotypes of the patients were similar to other patients with antenatal Bartter syndrome. This article is protected by copyright. All rights reserved....

  20. A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats.

    Science.gov (United States)

    Aberdein, Danielle; Munday, John S; Gandolfi, Barbara; Dittmer, Keren E; Malik, Richard; Garrick, Dorian J; Lyons, Leslie A

    2017-02-01

    British shorthair (BSH) kittens in multiple litters died as a result of a severe non-neoplastic lymphoproliferative disease that showed many similarities with human autoimmune lymphoproliferative syndrome (ALPS). Human ALPS is caused by inherited defects in FAS-mediated lymphocyte apoptosis and the possibility of similar defects was investigated in BSH cats. The whole genomes of two affected kittens were sequenced and compared to 82 existing cat genomes. Both BSH kittens had homozygous insertions of an adenine within exon 3 of the FAS-ligand gene. The resultant frameshift and premature stop codon were predicted to result in a severely truncated protein that is unlikely to be able to activate FAS. Three additional affected BSH kittens were homozygous for the variant, while 11 of 16 unaffected, but closely related, BSH cats were heterozygous for the variant. All BSH cats in the study were from a population with significant inbreeding. The variant was not identified in a further survey of 510 non-BSH cats. Identification of a genetic defect in the FAS-mediated apoptosis pathway confirms that the lymphoproliferative disease in BSH cats fulfills the diagnostic criteria for ALPS in humans. These results will enable the development of a genetic test to detect BSH carrier animals.

  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. 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.

  3. Combined central retinal artery and vein occlusion in Churg-Strauss syndrome

    DEFF Research Database (Denmark)

    Hamann, Steffen; Johansen, Sven; Hamann, Steffen Ellitsgaard

    2006-01-01

    PURPOSE: To describe a rare case of Churg-Strauss syndrome presenting with severe visual loss due to a combined central retinal vein and artery occlusion. METHODS: A 42-year old man with a medical history of asthma and blood hypereosinophilia developed a sudden loss of vision in his right eye. We...... describe the clinical features and evolution of the case after treatment. RESULTS: A combined occlusion of the central retinal artery and central retinal vein was diagnosed by the funduscopic appearance of retinal whitening, macular cherry-red spot, papilloedema, retinal haemorrhages in all four quadrants...... the vascular occlusion and experienced no visual improvement. CONCLUSION: Combined central retinal artery and vein occlusion can occur in Churg-Strauss syndrome. We suggest that regional vasculitis may be the pathological mechanism underlying the vascular occlusions observed in our case. The condition carries...

  4. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

    Science.gov (United States)

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

    2013-05-01

    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 array CGH findings of three atypical Rett syndrome patients who had severe intellectual impairment, early-onset developmental delay, postnatal microcephaly and hypotonia. In addition, the females had a seizure disorder, agenesis of the corpus callosum and subtle dysmorphism. All three were found to have an interstitial deletion of 14q12. The deleted region in common included the PRKD1 gene but not the FOXG1 gene. Gene expression analysis suggested a decrease in FOXG1 levels in two of the patients. Screening of 32 atypical Rett syndrome patients did not identify any pathogenic mutations in the PRKD1 gene, although a previously reported frameshift mutation affecting FOXG1 (c.256dupC, p.Gln86ProfsX35) was identified in a patient with the congenital Rett syndrome variant. There is phenotypic overlap between congenital Rett syndrome variants with FOXG1 mutations and the clinical presentation of our three patients with this 14q12 microdeletion, not encompassing the FOXG1 gene. We propose that the primary defect in these patients is misregulation of the FOXG1 gene rather than a primary abnormality of PRKD1.

  5. 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

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

    NARCIS (Netherlands)

    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

    2013-01-01

    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 va

  7. Common variants at 6p21.1 are associated with large artery atherosclerotic stroke

    NARCIS (Netherlands)

    Holliday, Elizabeth G.; Maguire, Jane M.; Evans, Tiffany-Jane; Koblar, Simon A.; Jannes, Jim; Sturm, Jonathan W.; Hankey, Graeme J.; Baker, Ross; Golledge, Jonathan; Parsons, Mark W.; Malik, Rainer; McEvoy, Mark; Biros, Erik; Lewis, Martin D.; Lincz, Lisa F.; Peel, Roseanne; Oldmeadow, Christopher; Smith, Wayne; Moscato, Pablo; Barlera, Simona; Bevan, Steve; Bis, Joshua C.; Boerwinkle, Eric; Boncoraglio, Giorgio B.; Brott, Thomas G.; Brown, Robert D.; Cheng, Yu-Ching; Cole, John W.; Cotlarciuc, Ioana; Devan, William J.; Fornage, Myriam; Furie, Karen L.; Gretarsdottir, Solveig; Gschwendtner, Andreas; Ikram, M. Arfan; Longstreth, W. T.; Meschia, James F.; Mitchell, Braxton D.; Mosley, Thomas H.; Nalls, Michael A.; Parati, Eugenio A.; Psaty, Bruce M.; Sharma, Pankaj; Stefansson, Kari; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Traylor, Matthew; Verhaaren, Benjamin F. J.; Wiggins, Kerri L.; Worrall, Bradford B.; Sudlow, Cathie; Rothwell, Peter M.; Farrall, Martin; Dichgans, Martin; Rosand, Jonathan; Markus, Hugh S.; Scott, Rodney J.; Levi, Christopher; Attia, John

    2012-01-01

    Genome-wide association studies (GWAS) have not consistently detected replicable genetic risk factors for ischemic stroke, potentially due to etiological heterogeneity of this trait. We performed GWAS of ischemic stroke and a major ischemic stroke subtype (large artery atherosclerosis, LAA) using 1,

  8. Leriche syndrome with coronary artery disease and lower limb gangrene:two case reports

    Institute of Scientific and Technical Information of China (English)

    Ana Manuel; Lute Silva; Domingas Baião; Telmo Martins

    2016-01-01

    Leriche syndrome is characterized by atheromatous occlusion of the infrarenal aorta, common iliac arteries or both. Considering the epidemiological transition recently observed in some low/ middle income countries, primary prevention of peripheral arterial disease progression is of utmost relevance. We described two cases of severe leriche syndrome in clinical situations of high complexity with fatal outcomes. The simultaneous presence of clinically relevant atherosclerotic lesions in two major vascular territories, requires attention not only on lesion sites and inherent invasive procedures technical difficulties, but also on the cardiovascular risk factors and comorbidities. The remarkable feature is the existence of diffuse atherosclerosis and comorbidities whose severity conditioned deference and complications of the vascular lesion treatment. Leriche syndrome has an important impact on cardiovascular and overall mortality. This case report highlights the need of re-thinking established approach to atherosclerotic disease, especially in countries with limited resources.

  9. Leriche syndrome with coronary artery disease and lower limb gangrene: two case reports

    Directory of Open Access Journals (Sweden)

    Ana Manuel

    2016-06-01

    Full Text Available Leriche syndrome is characterized by atheromatous occlusion of the infrarenal aorta, common iliac arteries or both. Considering the epidemiological transition recently observed in some low/ middle income countries, primary prevention of peripheral arterial disease progression is of utmost relevance. We described two cases of severe leriche syndrome in clinical situations of high complexity with fatal outcomes. The simultaneous presence of clinically relevant atherosclerotic lesions in two major vascular territories, requires attention not only on lesion sites and inherent invasive procedures technical difficulties, but also on the cardiovascular risk factors and comorbidities. The remarkable feature is the existence of diffuse atherosclerosis and comorbidities whose severity conditioned deference and complications of the vascular lesion treatment. Leriche syndrome has an important impact on cardiovascular and overall mortality. This case report highlights the need of re-thinking established approach to atherosclerotic disease, especially in countries with limited resources.

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

    Directory of Open Access Journals (Sweden)

    Dennis Lal

    Full Text Available 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.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.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.

  11. Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.

    Science.gov (United States)

    Raza, M Hashim; Domingues, Carlos E F; Webster, Ronald; Sainz, Eduardo; Paris, Emily; Rahn, Rachel; Gutierrez, Joanne; Chow, Ho Ming; Mundorff, Jennifer; Kang, Chang-Soo; Riaz, Naveeda; Basra, Muhammad A R; Khan, Shaheen; Riazuddin, Sheikh; Moretti-Ferreira, Danilo; Braun, Allen; Drayna, Dennis

    2016-04-01

    Homozygous mutations in GNPTAB and GNPTG are classically associated with mucolipidosis II (ML II) alpha/beta and mucolipidosis III (ML III) alpha/beta/gamma, which are rare lysosomal storage disorders characterized by multiple pathologies. Recently, variants in GNPTAB, GNPTG, and the functionally related NAGPA gene have been associated with non-syndromic persistent stuttering. In a worldwide sample of 1013 unrelated individuals with non-syndromic persistent stuttering we found 164 individuals who carried a rare non-synonymous coding variant in one of these three genes. We compared the frequency of these variants with those in population-matched controls and genomic databases, and their location with those reported in mucolipidosis. Stuttering subjects displayed an excess of non-synonymous coding variants compared to controls and individuals in the 1000 Genomes and Exome Sequencing Project databases. We identified a total of 81 different variants in our stuttering cases. Virtually all of these were missense substitutions, only one of which has been previously reported in mucolipidosis, a disease frequently associated with complete loss-of-function mutations. We hypothesize that rare non-synonymous coding variants in GNPTAB, GNPTG, and NAGPA may account for as much as 16% of persistent stuttering cases, and that variants in GNPTAB and GNPTG are at different sites and may in general, cause less severe effects on protein function than those in ML II alpha/beta and ML III alpha/beta/gamma.

  12. Arterial stiffness response to exercise in persons with and without Down syndrome.

    Science.gov (United States)

    Hu, Min; Yan, Huimin; Ranadive, Sushant M; Agiovlasitis, Stamatis; Fahs, Christopher A; Atiq, Muhammed; Atique, Nazia; Fernhall, Bo

    2013-10-01

    This study compared arterial stiffness and wave reflection at rest and following maximal exercise between individuals with and without Down syndrome (DS), and the influence of body mass index (BMI), peak oxygen uptake (VO2 peak) on changes in arterial stiffness. Twelve people with DS (26.6 ± 2.6 yr) and 15 healthy controls (26.2 ± 0.6 yr) completed this study. Intima-media thickness (IMT) and stiffness of common carotid artery was examined. Hemodynamic and arterial variables were measured before and 3-min after exercise. Persons with DS had higher BMI and lower VO 2 peak than controls. IMT did not differ between groups. At rest, carotid β stiffness was significantly higher in persons with DS (PObesity and particularly VO 2 peak influenced these findings. These results suggest impaired vascular function in people with DS.

  13. Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?

    OpenAIRE

    1989-01-01

    A mother and son are reported with bilateral, symmetrical syndactyly of the third, fourth, and fifth toes, mild craniosynostosis of the coronary sutures, and small pinnae. The same combination of malformations was recently described as a new syndrome by Kurczynsky and Casperson in a mother and her daughter. In addition, in the present family, the mother had fusion of two cervical vertebrae and a partial duplication of the first metatarsal. The child had a bilateral cleft lip and palate. The q...

  14. 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.

  15. Compound BMPR2 gene mutations in a malignant variant of idiopathic pulmonary arterial hypertension

    Directory of Open Access Journals (Sweden)

    Walter Serra

    2014-12-01

    Full Text Available Pulmonary arterial hypertension (PAH; MIM 600799 is frequently associated with concomitant diseases, including congenital heart disease. 6% of patients with PAH show a family history of the disease [hereditary PAH (HPAH], with the major genetic determinants of HPAH being heterozygous germline mutations in the bone morphogenetic protein type II receptor (BMPR2. We present the case of a 38-year-old woman of Indian descent; initially admitted with progressive dyspnea [New York Heart Association (NYHA class III]. The results of the proband’s clinical assessments are presented here. Cardiac catheterization confirmed idiopathic PAH with severe right ventricular hypertrophy associated with pulmonary arteriopathy. Initial treatment comprised the dual endothelin receptor antagonist, bosentan, furosemide, warfarin and intravenous infusion of prostaglandin I2 (PGI2 for 3 days. Despite this, the patient died of pulmonary hemorrhagic edema and cardiogenic shock after 6 days of intensive care. After relatives’ consent, post mortem assessments confirmed a diagnosis of PAH; the heart displayed significant right ventricular hypertrophy and it was particularly noted that the right atrial appendage had undergone extreme dilation. Pulmonary arteriopathy was characterized by medial hypertrophy, arterialization of muscular arteries and muscularization of non-muscularized distal arteries. Molecular genetic analyses revealed the presence of cis-mutations in the BMPR2 gene (p.Cys123Arg and p.Arg332X. Cosegregation studies were not available. Our findings suggest that mutations of the BMPR2 gene gave rise to the onset of PAH in this patient and that the severity of the onset and progression could be attributed to the presence of multiple mutations in a genedosage manner.

  16. Common variants at 6p21.1 are associated with large artery atherosclerotic stroke

    OpenAIRE

    Holliday, Elizabeth G.; Maguire, Jane M; Evans, Tiffany-Jane; Koblar, Simon A.; Jannes, Jim; Sturm, Jonathan W; Graeme J Hankey; Baker, Ross; Golledge, Jonathan; Mark W Parsons; Malik, Rainer; McEvoy, Mark; Biros, Erik; Lewis, Martin D.; Lincz, Lisa F

    2012-01-01

    Genome-wide association studies (GWAS) have not consistently detected replicable genetic risk factors for ischemic stroke, potentially due to etiological heterogeneity of this trait. We performed GWAS of ischemic stroke and a major ischemic stroke subtype (large artery atherosclerosis, LAA) using 1,162 ischemic stroke cases (including 421 LAA cases) and 1,244 population controls from Australia. Evidence for a genetic influence on ischemic stroke risk was detected, but this influence was highe...

  17. Common Carotid Artery Stump Syndrome Due to Mobile Thrombus Detected by Carotid Duplex Ultrasonography.

    Science.gov (United States)

    Omoto, Shusaku; Hasegawa, Yuki; Sakai, Kenichiro; Matsuno, Hiromasa; Arai, Ayumi; Terasawa, Yuka; Mitsumura, Hidetaka; Iguchi, Yasuyuki

    2016-10-01

    Carotid stump syndrome is a cause of recurrent embolic stroke following occlusion of the ipsilateral internal carotid artery. The present report describes a case of recurrent cerebral embolism ipsilateral to a chronically occluded left common carotid artery (CCA), i.e., "CCA stump syndrome." Doppler color flow imaging showed anterograde flow in the left internal and external carotid arteries, which were supplied by collateral flow from the superior thyroid artery inflowing just proximal to the left carotid bifurcation. According to carotid duplex ultrasonography (CDU), a low-echoic mobile thrombus was noted at the distal stump of the occluded CCA, which presumably caused distal embolism. The low-echoic mobile thrombus dramatically changed to a homogenously high-echoic thrombus, and there was no recurrence of stroke after antiplatelet and anticoagulant therapy. This is the first report to demonstrate a CDU-verified temporal change in the thrombus at the stump in CCA stump syndrome. CDU is a noninvasive and useful technique to characterize hemodynamics, thrombus morphology, and the response to therapy.

  18. 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.

  19. A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5 Protein that Is Selectively Expressed in Retina.

    Directory of Open Access Journals (Sweden)

    Susan N Bolch

    Full Text Available Bardet-Biedl syndrome is a complex ciliopathy that usually manifests with some form of retinal degeneration, amongst other ciliary-related deficiencies. One of the genetic causes of this syndrome results from a defect in Bardet-Biedl Syndrome 5 (BBS5 protein. BBS5 is one component of the BBSome, a complex of proteins that regulates the protein composition in cilia. In this study, we identify a smaller molecular mass form of BBS5 as a variant formed by alternative splicing and show that expression of this splice variant is restricted to the retina.Reverse transcription PCR from RNA was used to isolate and identify potential alternative transcripts of Bbs5. A peptide unique to the C-terminus of the BBS5 splice variant was synthesized and used to prepare antibodies that selectively recognized the BBS5 splice variant. These antibodies were used on immunoblots of tissue extracts to determine the extent of expression of the alternative transcript and on tissue slices to determine the localization of expressed protein. Pull-down of fluorescently labeled arrestin1 by immunoprecipitation of the BBS5 splice variant was performed to assess functional interaction between the two proteins.PCR from mouse retinal cDNA using Bbs5-specific primers amplified a unique cDNA that was shown to be a splice variant of BBS5 resulting from the use of cryptic splicing sites in Intron 7. The resulting transcript codes for a truncated form of the BBS5 protein with a unique 24 amino acid C-terminus, and predicted 26.5 kD molecular mass. PCR screening of RNA isolated from various ciliated tissues and immunoblots of protein extracts from these same tissues showed that this splice variant was expressed in retina, but not brain, heart, kidney, or testes. Quantitative PCR showed that the splice variant transcript is 8.9-fold (+/- 1.1-fold less abundant than the full-length transcript. In the retina, the splice variant of BBS5 appears to be most abundant in the connecting cilium

  20. Central retinal artery occlusion following laser treatment for ocular ischemic aortic arch syndrome

    Directory of Open Access Journals (Sweden)

    Shah, Payal J.

    2015-12-01

    Full Text Available Objective: Ocular ischemic syndrome is a rare blinding condition generally caused by disease of the carotid artery. We describe a 69-year-old female with a 50 pack-year smoking history with aortic arch syndrome causing bilateral ocular ischemic syndrome. Methods: The patient presented with progressive visual loss and temple pain. Slit lamp biomicroscopy revealed bilateral iris neovascularization. This finding prompted a cardiovascular work up. Panretinal photocoagulation with retrobulbar block was performed in the right eye. Results: A temporal artery biopsy was negative. The carotid duplex sound showed only a 1–39% stenosis. MRA revealed a more proximal occlusion of the aortic branch for which she underwent subclavian carotid bypass surgery. At the one month follow up, the right eye suffered profound vision loss secondary to a central retinal artery occlusion. Conclusion: Ocular neovascularization may be one of the clinical manifestations of aortic arch syndrome. This case also illustrates the limitations of relying solely on carotid duplex ultrasound testing. We caution against overly aggressive panretinal photocoagulation utilizing retrobulbar anesthesia.

  1. 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.

  2. Association of genetic variants with atherothrombotic cerebral infarction in Japanese individuals with metabolic syndrome.

    Science.gov (United States)

    Yamada, Yoshiji; Kato, Kimihiko; Oguri, Mitsutoshi; Yoshida, Tetsuro; Yokoi, Kiyoshi; Watanabe, Sachiro; Metoki, Norifumi; Yoshida, Hidemi; Satoh, Kei; Ichihara, Sahoko; Aoyagi, Yukitoshi; Yasunaga, Akitomo; Park, Hyuntae; Tanaka, Masashi; Nozawa, Yoshinori

    2008-06-01

    Metabolic syndrome is a risk factor for cardiovascular disease. The aim of the present study was to identify genetic variants that confer susceptibility to atherothrombotic cerebral infarction among individuals with metabolic syndrome in order to allow prediction of genetic risk for this condition. The study population comprised 1284 unrelated Japanese individuals with metabolic syndrome, including 313 subjects with atherothrombotic cerebral infarction and 971 controls. The genotypes for 296 polymorphisms of 202 candidate genes were determined with a method that combines the polymerase chain reaction and sequence-specific oligonucleotide probes with suspension array technology. The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the prevalence of hypertension, hypercholesterolemia, and diabetes mellitus, as well as a stepwise forward selection procedure revealed that the 2445G-->A (Ala54Thr) polymorphism (rs1799883) of FABP2, the -108/3G-->4G polymorphism of IPF1 (S82168), the A-->G (Thr94Ala) polymorphism (rs2241883) of FABP1, the G-->A (Asp2213Asn) polymorphism (rs529038) of ROS1, the -11377C-->G polymorphism (rs266729) of ADIPOQ, the 162A-->C polymorphism (rs4769055) of ALOX5AP, the -786T-->C polymorphism (rs2070744) of NOS3, and the 3279C-->T polymorphism (rs7291467) of LGALS2 were associated (PA (Ala54Thr) polymorphism of FABP2 was most significantly associated with this condition. Our results suggest that FABP2, IPF1, FABP1, ROS1, ADIPOQ, ALOX5AP, NOS3, and LGALS2 are susceptibility loci for atherothrombotic cerebral infarction among Japanese individuals with metabolic syndrome. Genotypes for these polymorphisms, especially for the 2445G-->A (Ala54Thr) polymorphism of FABP2, may prove informative for the prediction of genetic risk for atherothrombotic cerebral infarction among such individuals.

  3. The significance of adiponectin as a biomarker in metabolic syndrome and/or coronary artery disease

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    Stojanović Sanja

    2015-01-01

    Full Text Available Introduction/Aim. Adiponectin exerts profound protective actions during insulin resistence or prediabetes progression towards more severe clinical entities such as metabolic syndrome and/or cardiovascular disease. Since hypoadiponectinaemia contributes to the pathophysiology of the metabolic syndrome and coronary artery disease the level of circulating adiponectin may be an early marker of cardiovascular events. The aim of this study was to determine the relationships between serum adiponectin levels and parameters of both insulin sensitivity and obesity in patients with the metabolic syndrome and/or coronary artery disease, as well as to assess predictive value of adiponectin serum levels as a biomarker of these entitetis. Methods. The study included 100 patients with metabolic syndrome and/or coronary artery disease with different degree of insulin resistance and healthy, normoglycemic individuals. The control group comprising healthy, normoglycemic individuals was used for comparison. Serum level of adiponectin, fasting glucose, fasting insulinemia Homeostasis Model Assessment of Insulin Resistance (HOMAIR index and anthropometric parameters were determined in all the subjects. Adiponectin was measured by using the ultrasensitive ELISA method. Insulinemia was measured by the radioimmunoassay (RIA method. The presence of glycemic disorders was assessed on the basis of oral glucose tolerance test (OGTT. Results. Adiponectin level was inversely correlated with age (ρ = - 0.015, parameters of both obesity (R = 0.437; p < 0.001 and insulin resistance (R = 0.374; p < 0.01. Decreasing in the level of adiponectin was strongly implicated in the development of insulin resistance. Most importantly, a statistically significant rapid decrease in adiponectin was in the prediabetic stages (p < 0.01. The predictor value of adiponectin was 1,356.32 ± 402.65 рg/mL. Conclusions. The obtained resultats suggest that adiponectin may be a useful marker in

  4. Stiffness of the large arteries in individuals with and without Down syndrome

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    Nunes Rodrigues A

    2011-06-01

    Full Text Available 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 unclear whether this aging effect also affects the structure and function of the large arterial trunks. In this controlled study, the possibility of changes in the large arteries due to aging was evaluated in patients with Down syndrome.Methods: Eighty-two subjects of both genders were selected. The Down syndrome group had 41 active subjects consisting of 19 males and 22 females (mean age 21 ± 1, range 13–42 years without cardiovascular complications and who did not use vasoactive drugs. The control group consisted of 41 healthy individuals without trisomy 21 of the same gender and age as the Down syndrome group and who did not use vasoactive medication. Carotid–femoral pulse wave velocity was obtained as an index of aortic stiffness using an automatic noninvasive method.Results: Individuals with Down syndrome had significantly lower blood pressure than those in the control group. Systolic blood pressure for the Down syndrome group and control group was 106 ± 2 mmHg vs 117 ± 2 mmHg (P < 0.001, respectively; diastolic blood pressure was 66 ± 2 mmHg vs 77 ± 2 mmHg (P <0.001; and mean arterial pressure was 80 ± 1 mmHg vs 90 ± 1 mmHg (P < 0.001. Only age and systolic blood pressure were shown to correlate significantly with pulse wave velocity, but the slopes of the linear regression curves of these two variables showed no significant difference between the two study groups. Pulse wave velocity, which was initially significantly lower in the Down syndrome group (7.51 ± 0.14 m/s vs

  5. Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

    Science.gov (United States)

    Hinrichsen, Inga; Schäfer, Dieter; Langer, Deborah; Köger, Nicole; Wittmann, Margarethe; Aretz, Stefan; Steinke, Verena; Holzapfel, Stefanie; Trojan, Jörg; König, Rainer; Zeuzem, Stefan; Brieger, Angela; Plotz, Guido

    2015-02-01

    Lynch syndrome is caused by inactivating mutations in the MLH1 gene, but genetic variants of unclear significance frequently preclude diagnosis. Functional testing can reveal variant-conferred defects in gene or protein function. Based on functional defect frequencies and clinical applicability of test systems, we developed a functional testing strategy aimed at efficiently detecting pathogenic defects in coding MLH1 variants. In this strategy, tests of repair activity and expression are prioritized over analyses of subcellular protein localization and messenger RNA (mRNA) formation. This strategy was used for four unclear coding MLH1 variants (p.Asp41His, p.Leu507Phe, p.Gln689Arg, p.Glu605del + p.Val716Met). Expression was analyzed using a transfection system, mismatch repair (MMR) activity by complementation in vitro, mRNA formation by reverse transcriptase-PCR in carrier lymphocyte mRNA, and subcellular localization with dye-labeled fusion constructs. All tests included clinically meaningful controls. The strategy enabled efficient identification of defects in two unclear variants: the p.Asp41His variant showed loss of MMR activity, whereas the compound variant p.Glu605del + p.Val716Met had a defect of expression. This expression defect was significantly stronger than the pathogenic expression reference variant analyzed in parallel, therefore the defect of the compound variant is also pathogenic. Interestingly, the expression defect was caused additively by both of the compound variants, at least one of which is non-pathogenic when occurring by itself. Tests were neutral for p.Leu507Phe and p.Gln689Arg, and the results were consistent with available clinical data. We finally discuss the improved sensitivity and efficiency of the applied strategy and its limitations in analyzing unclear coding MLH1 variants.

  6. Capsular warning syndrome and crescendo lacunar strokes after atherosclerotic stenosis of the recurrent artery of Heubner.

    Science.gov (United States)

    Cohen, José E; Rabinstein, Alejandro; Gomori, John M; Leker, Ronen R

    2012-12-01

    The stereotype of repetitive transient cerebral ischemia causing unilateral motor, sensory, or sensorimotor deficits that simultaneously affect the face, arm, and leg, clinically localized to the internal capsule, fits with the description of capsular warning syndrome (CWS). A high proportion of individuals with these symptoms develop subsequent capsular stroke, despite various proposed preventative measures. It has been postulated that the mechanism for such strokes is that of small-vessel single-penetrator disease. We present a patient with repetitive CWS intermingled with crescendo capsular strokes secondary to recurrent artery of Heubner disease. This report causally links CWS-crescendo lacunar strokes and Heubner artery atherosclerotic disease (intracranial branch atheromatous disease).

  7. Hybrid endovascular treatment of an anomalous right subclavian artery dissection in a patient with Marfan syndrome.

    Science.gov (United States)

    Stanley, Gregory A; Arko, Frank R; Foteh, Mazin I; Jessen, Michael E; DiMaio, J Michael

    2012-08-01

    We report the case of a 26-year-old female patient with Marfan syndrome and an aberrant right subclavian artery (ARSA) with associated Kommerell diverticulum. The patient presented with spontaneous acute dissection of the ARSA that showed fusiform dilation to 4 cm in diameter. Definitive treatment was performed using a two-stage hybrid endovascular technique, including extrathoracic bilateral upper extremity bypass and thoracic endovascular aortic repair with debranching of the right and left subclavian arteries. This was followed by coil and plug embolization to exclude the dissection and prevent subsequent endoleak.

  8. Renal artery thrombosis and hypertension in a 13 year old girl with antiphospholipid syndrome.

    Science.gov (United States)

    Ostuni, P A; Lazzarin, P; Pengo, V; Ruffatti, A; Schiavon, F; Gambari, P

    1990-01-01

    The case of a 13 year old girl with renal artery thrombosis and hypertension is described. A cerebrovascular accident and a probable occlusion of the superior mesenteric artery also occurred. Very high levels of 'lupus anticoagulant', anticardiolipin antibodies as well as false positive Venereal Disease Research Laboratory tests were repeatedly shown. Moreover, the patient fulfilled at least four classification criteria for systemic lupus erythematosus, but only a slight positivity for antinucleolar antibodies was present. The striking relation between antiphospholipid antibody levels and clinical events and the treatment of this complex syndrome are discussed. Images PMID:2108619

  9. [Acute coronary syndrome suspicion in patient with left coronary artery arising from right coronary sinus].

    Science.gov (United States)

    Kern, Adam; Górny, Jerzy; Rzeszowski, Bartłomiej; Witkowska, Ewa; Wasilewski, Grzegorz

    2013-01-01

    We present a case of 73 year-old patient who underwent coronary angiography due to suspicion of acute coronary syndrome without persistent ST segment elevation. The angiographic result showed no lesions that could cause recurrent chest pain,but it also revealed a seldom coronary artery abnormality - left coronary artery arising from right coronary sinus. Performed computed tomography of the chest confirmed the result of the coronarography. But apart from that it found the signs of neoplastic disease which was probably responsible for clinical presentation.

  10. 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…

  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...... 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...

  12. Genetic variants in interleukin-6 modified risk of obstructive sleep apnea syndrome.

    Science.gov (United States)

    Zhang, Xiuqin; Liu, Reng-Yun; Lei, Zhe; Zhu, Yehan; Huang, Jian-An; Jiang, Xiefang; Liu, Zeyi; Liu, Xia; Peng, Xiaobei; Hu, Huacheng; Zhang, Hong-Tao

    2009-04-01

    Obesity and inflammation are known to correlate with the pathogenesis of obstructive sleep apnea syndrome (OSAS). Interleukin (IL)-6, an important regulator of obesity and inflammation, was reported to phenotypically increase in patients with OSAS. This study aimed to investigate whether genetic variants in IL-6 confer susceptibility to OSAS. The study population consisted of 151 patients with OSAS and 75 healthy controls from Southeast China. Five haplotype-tagging single nucleotide polymorphisms (tSNPs) were selected across 21 kb of the IL-6 locus using Haploview software V4.1. The tSNPs were amplified by polymerase chain reaction (PCR) and genotyped by restriction enzyme digestion followed by gel electrophoresis. Linkage disequilibrium (LD) and haplotype reconstruction were carried out by means of a SHEsis program. No distribution difference of any of the five tSNPs between OSAS patients and controls was observed. However, in non-obese individuals (n=117), the minor allele G (rs1800796) decreased risk of OSAS compared with the major allele C [odds ratio (OR), 0.48; 95% confidence interval (CI), 0.26-0.86; p=0.014], and the haplotype TG (rs1880242, rs1800796) conferred a significantly decreased risk of OSAS than single allele G (rs1800796) (OR, 0.39; 95% CI, 0.20-0.74; p=0.003). Moreover, the severity of sleep-disordered breathing (measured by apnea hypopnea index) increased linearly in carriers of the C variant of IL-6 -572G/C polymorphism (14.3+/-5.1, 22.0+/-3.6 and 34.8+/-3.5 for GG, CG and CC, respectively; p=0.012). To the best of our knowledge, this is the first study to suggest that genetic variants in IL-6 could modify OSAS susceptibility. SNP genotyping of IL-6 is a potential strategy for detecting the risk of breathing disordered diseases in non-obese individuals.

  13. The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.

    Science.gov (United States)

    Caluseriu, Oana; Lowry, Brian R; McLeod, Ross; Lamont, Ryan; Parboosingh, Jillian S; Bernier, Francois P; Innes, A Micheil

    2013-11-01

    Treacher Collins syndrome (TCS), the best known form of mandibulofacial dysostosis (MFD) comprises a recognizable pattern of anomalies. In 1985, Lowry et al. reported on two Hutterite sisters born to apparently unaffected parents with TCS, raising the possibility of an autosomal recessive (AR) variant of TCS, subsequently given a unique Mendelian Inheritance of Man (MIM) number (248390). Recently, biallelic mutations in POLR1C were found in TCS patients, confirming AR TCS as a distinct entity. The Hutterites, an endogamous Anabaptist group, like other genetically isolated populations, provide a powerful resource for mapping AR disorders. We elected to study the molecular basis of TCS in the Hutterite population including the original kindred described in 1985, and another unrelated Hutterite patient. Prior to starting this study, a TCOF1 mutation had apparently been excluded in the original family at two outside institutions. We hypothesized that an AR variant of TCS was present in the three Hutterite patients, but homozygosity mapping did not show convincing evidence of shared regions between the affected individuals. TCOF1 analysis was undertaken and mutations were found in the three affected patients and an unaffected parent. These data show that the initial Hutterite family reported with AR TCS in fact has classic TCS due to a TCOF1 mutation, despite recent data confirming the existence of AR TCS in other populations. These results have significant counseling implications for the affected families in the Hutterite population and in the population at large. © 2013 Wiley Periodicals, Inc.

  14. Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current.

    Science.gov (United States)

    Cheng, Jianding; Kyle, John W; Wiedmeyer, Brandi; Lang, Di; Vaidyanathan, Ravi; Makielski, Jonathan C

    2017-02-20

    Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative disorder with unclear etiology. Vinculin (VCL) was linked to sudden arrhythmia death in VCL knockout mice prior to the appearance of cardiomyopathy. We hypothesized VCL mutations underlie risk for SUNDS. A rare heterozygous variant VCL-M94I was found in a SUNDS victim who suffered sudden nocturnal tachypnea and lacked pathogenic variants in known arrhythmia-causing genes. VCL was identified to interact with SCN5A in vitro/vivo. The VCL-M94I was co-expressed with the cardiac sodium channel in HEK293 cells and also overexpressed in induced pluripotent stem cells derived cardiomyocytes (iPSCs-CM). In HEK293 cells with pH 7.4, VCL-M94I caused ~30% decrease in peak sodium current (INa) amplitude compared to WT; under acidotic conditions (pH 7.0) typically found with hypoxia during sleep apnea, M94I resulted in 37% reduction in peak INa compared to WT and the combination of VCL-M94I and pH 7.0 decreased peak INa by ~56% compared to WT at pH 7.4. In iPSCs-CM, similar effects of M94I on reduction of peak INa were observed. This study initially shows both physical and functional interaction between VCL and cardiac sodium channel, and suggests an important role for respiratory acidosis in triggering the fatal arrhythmia underlying SUNDS.

  15. Elevated white cell count in acute coronary syndromes: relationship to variants in inflammatory and thrombotic genes

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    Cannon Christopher P

    2004-06-01

    Full Text Available Abstract Background Elevated white blood cell counts (WBC in acute coronary syndromes (ACS increase the risk of recurrent events, but it is not known if this is exacerbated by pro-inflammatory factors. We sought to identify whether pro-inflammatory genetic variants contributed to alterations in WBC and C-reactive protein (CRP in an ACS population. Methods WBC and genotype of interleukin 6 (IL-6 G-174C and of interleukin-1 receptor antagonist (IL1RN intronic repeat polymorphism were investigated in 732 Caucasian patients with ACS in the OPUS-TIMI-16 trial. Samples for measurement of WBC and inflammatory factors were taken at baseline, i.e. Within 72 hours of an acute myocardial infarction or an unstable angina event. Results An increased white blood cell count (WBC was associated with an increased C-reactive protein (r = 0.23, p 3 (95% CI = -0.41, 0.77, and -0.03/mm3 (95% CI = -0.55, 0.86 for IL1RN. Moreover, the composite endpoint was not significantly affected by an interaction between WBC and the IL1 (p = 0.61 or IL6 (p = 0.48 genotype. Conclusions Cytokine pro-inflammatory genetic variants do not influence the increased inflammatory profile of ACS patients.

  16. [Popliteal artery entrapment syndrome in 3 young athletes].

    Science.gov (United States)

    Delgado Daza, R; Moga Donadeu, L L; Muncunill Gil, J; Mañosa Bonamich, J; Vidal Conde, V

    1993-01-01

    Three cases of entrapment of the popliteal arteries from three young patients are reported. In all cases, the symptomatology was erroneously attributed to several muscular injuries produced in practice of a sport: Basketball, Football and Roller Hockey, respectively. In all cases, symptoms were progressing for 6 months as a minimum. The roads followed by these patients until they were visited in a Vascular Surgery Department is described. Clinical picture, the results from the different examinations practiced and the applied treatments to each patients are described.

  17. Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

    Science.gov (United States)

    Skopkova, Martina; Ciljakova, Miriam; Havlicekova, Zuzana; Vojtkova, Jarmila; Valentinova, Lucia; Danis, Daniel; Murgas, Dalibor; Szepeova, Renata; Stanik, Juraj; Banovcin, Peter; Klimes, Iwar; Gasperikova, Daniela

    2016-09-01

    Mitchell-Riley syndrome, an autosomal recessive disorder caused by mutations in the RFX6 gene, is defined as a combination of neonatal diabetes mellitus and serious congenital gastrointestinal defects. We describe Mitchell-Riley syndrome in two sisters with two novel compound heterozygous variants in the RFX6 gene: c.1154G > A, p.(Arg385Gln), and c.1316_1319delTCTA, p.(Ile439Thrfs*13). Both sisters present milder forms of the syndrome, likely due to possible residual activity of the p.Arg385Gln variant, which is localized in a dimerization domain of the RFX6 transcription factor. We propose that the prognosis is dependent on patient RFX6 genotype and possible residual activity of RFX6 transcription factor. Both sisters had atypical later onset of diabetes, at 2 years and 10 months and 2 years and 7 months, respectively. This supports the need of extending the definition of diabetes in Mitchell-Riley syndrome from neonatal to childhood onset and regular glyceamia check in patients with gastrointestinal tract malformations typical for Mitchell-Riley syndrome. The clinical course in both sisters improved significantly after surgical removal of parts of the small intestine with heterotopic gastric mucosa. We suggest that gastric mucosa heterotopy is an important actionable part of Mitchell-Riley syndrome and could have been responsible for the malabsorption, failure to thrive and severe anemia present in previously reported patients with Mitchell-Riley syndrome.

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

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    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.

  19. 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

    Sequencing, DNA samples from 77 patients with 84 hamartomatous polyps were sequenced. The detected germline variants were classified into pathogenicity classes. RESULTS: We detected several germline variants, among them three in ENG, two in BMPR1A, one in PTEN, and one in SMAD4. Although some of the detected......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...... be detected in a majority of HPS patients. This study investigates whether patients with one or few hamartomatous polyps could have a syndrome based on genetic screening of relevant genes. METHODS: We designed a gene panel including 26 hamartomatous polyposis-associated genes. Using targeted Next Generation...

  20. Influence of variants in the NPY gene on obesity and metabolic syndrome features in Spanish children.

    Science.gov (United States)

    Olza, Josune; Gil-Campos, Mercedes; Leis, Rosaura; Rupérez, Azahara I; Tojo, Rafael; Cañete, Ramón; Gil, Angel; Aguilera, Concepción M

    2013-07-01

    Variants in the neuropeptide Y (NPY) gene have been associated with obesity and its traits. The objective of the present study was to evaluate the association of single nucleotide polymorphisms (SNPs) in the NPY gene with obesity, metabolic syndrome features, and inflammatory and cardiovascular disease (CVD) risk biomarkers in Spanish children. We recruited 292 obese children and 242 normal-body mass index (BMI) children. Height, weight, BMI, waist circumference, clinical and metabolic markers, adipokines, and inflammatory (PCR, IL-6, IL-8 and TNF-α) and CVD risk biomarkers (MPO, MMP-9, sE-selectin, sVCAM, sICAM, and PAI-1) were analyzed. Seven SNPs in the NPY gene were genotyped. The results of our study indicate that anthropometric measurements, clinical and metabolic markers, adipokines (leptin and resistin), and inflammatory and CVD risk biomarkers were generally elevated in the obese group. The exceptions to this finding included cholesterol, HDL-c, and adiponectin, which were lower in the obese group, and glucose, LDL-c, and MMP-9, which did not differ between the groups. Both rs16147 and rs16131 were associated with the risk of obesity, and the latter was also associated with insulin resistance, triacylglycerols, leptin, and HDL-c. Thus, we confirm the association of rs16147 with obesity, and we demonstrate for the first time the association of rs16131 with obesity and its possible impact on the early onset of metabolic syndrome features, mainly triacylglycerols, in children.

  1. Right pulmonary artery agenesis with patent ductus arteriosus and Eisenmenger syndrome: a rare case diagnosed during the postpartum period.

    Science.gov (United States)

    Beker-Acay, Mehtap; Ozkececi, Gulay; Unlu, Ebru; Hocaoglu, Elif; Kacar, Emre; Onrat, Ersel

    2014-01-01

    Unilateral absence of a pulmonary artery a very rare congenital disorder. We here present a case of a 22-year-old female patient with agenesis of the right pulmonary artery accompanying patent ductus arteriosus and Eisenmenger syndrome, diagnosed by chest X-ray and multidetector computed tomography 5 days after giving birth.

  2. An unusual variant of the common trunk of the fronto-orbital and frontopolar arteries associated with a ruptured aneurysm of the A1 segment of the anterior cerebral artery

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    Kenta Aso

    2015-01-01

    Full Text Available Background: The common trunk of the fronto-orbital artery (FOA and frontopolar artery (FPA arising from the A1 segment of the anterior cerebral artery (ACA associated with a ruptured aneurysm (AN, is rare. Case Description: The patient was a 52-year-old man who suffered from subarachnoid hemorrhage. Three-dimensional computed tomography angiography revealed an elongated and tortuous left A1 segment of the ACA and a saccular AN arising from the left A1 segment of the ACA at the origin of the cortical branch, defining its location just on the midline and behind the anterior communicating artery. This vessel had two branches. One branch ran along the inferior surface of the ipsilateral frontal lobe, and the other branch ran anteriorly and medially along the surface of the left hemisphere toward the frontal pole. The anomalous artery was interpreted as a common trunk of the FOA and FPA. Bifrontal craniotomy was performed. The anomalous artery arose from the A1 segment of the ACA at the origin of the AN, and the recurrent artery of Heubner branched off the anomalous artery. The AN was successfully obliterated, clipping with a bayonet-shaped Yasargil titanium clip. Complete AN occlusion and patency of both the A1 and the common trunk of the FOA and FPA, were confirmed intraoperatively by indocyanine green angiography. Conclusions: Recognizing this variant preoperatively, could be helpful in preventing the complications of surgery.

  3. PHACES syndrome: a review of eight previously unreported cases with late arterial occlusions

    Energy Technology Data Exchange (ETDEWEB)

    Bhattacharya, J.J. [Department of Neuroradiology, Institute of Neurological Sciences, Southern General Hospital, 1345 Gowan Road, G51, Glasgow (United Kingdom); Luo, C.B.; Alvarez, H.; Rodesch, G.; Lasjaunias, P.L. [Neuroradiologie Diagnostique et Therapeutique, Hopital de Bicetre, Rue du General Leclerc 78, 94275, Le Kremlin-Bicetre (France); Pongpech, S. [Ramathibodi Hospital, Bangkok (Thailand)

    2004-03-01

    PHACE and PHACES are acronyms for a syndrome of variable expression comprising posterior cranial fossa malformations, facial haemangiomas, arterial anomalies, aortic coarctation and other cardiac disorders, ocular abnormalities and stenotic arterial disease. We review five girls and three boys aged 1 month-14 years with disorders from this spectrum. Six had large facial haemangiomas but recent reports suggest that small haemangiomas may occur; hence our inclusion of two possible cases. We also focus on the recently recognised feature of progressive intracranial arterial occlusions, present in four of our patients, later than previously recognised, from 4 to 14 years of age. We suggest that many elements of this disorder could reflect an abnormality of cell proliferation and apoptosis. (orig.)

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

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    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

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

    Directory of Open Access Journals (Sweden)

    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.

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

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    J. Bredow

    2014-01-01

    Full Text Available 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 (balloon kyphoplasty without cement leakage. Methods. A 75-year-old female patient underwent balloon kyphoplasty for a fresh fracture of the first vertebra. Results. Postoperatively, the patient developed an acute anterior spinal artery syndrome with motor paraplegia of the lower extremities as well as loss of pain and temperature sensation with retained proprioception and vibratory sensation. Complete recovery occurred six hours after bolus therapy with 15.000 IU low-molecular heparin. Conclusion. Spine surgeons should consider vascular complications in patients with incomplete spinal cord syndromes after balloon kyphoplasty, not only after more invasive spine surgery. High-dose low-molecular heparin might help to reperfuse the Adamkiewicz artery.

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

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    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

  8. 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.

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    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.

  9. Arginine methylation dysfunction increased risk of acute coronary syndrome in coronary artery disease population

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    Zhang, Shengyu; Zhang, Shuyang; Wang, Hongyun; Wu, Wei; Ye, Yicong

    2017-01-01

    Abstract The plasma levels of asymmetric dimethylarginine (ADMA) had been proved to be an independent cardiovascular risk factor. Few studies involved the entire arginine methylation dysfunction. This study was designed to investigate whether arginine methylation dysfunction is associated with acute coronary syndrome risk in coronary artery disease population. In total 298 patients undergoing coronary angiography because of chest pain with the diagnosis of stable angina pectoris or acute coronary syndrome from February 2013 to June 2014 were included. Plasma levels of free arginine, citrulline, ornithine, and the methylated form of arginine, ADMA, and symmetric dimethylarginine (SDMA) were measured with high-performance liquid chromatography coupled with tandem mass spectrometry. We examined the relationship between arginine metabolism-related amino acids or arginine methylation index (AMI, defined as ratio of [arginine + citrulline + ornithine]/[ADMA + SDMA]) and acute coronary events. We found that plasma ADMA levels were similar in the stable angina pectoris group and the acute coronary syndrome group (P = 0.88); the AMI differed significantly between 2 groups (P angina and acute coronary syndrome patients; AMI might be an independent risk factor of acute coronary events in coronary artery disease population. PMID:28207514

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

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    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.

  11. 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

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    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...

  12. A variant of human paraoxonase/arylesterase (HUMPONA) gene is a risk factor for coronary artery disease.

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    Serrato, M; Marian, A J

    1995-12-01

    Coronary artery disease (CAD) is a complex trait caused by a number of genetic and environmental factors. Recently, paraoxonase/arylesterase (PONA) enzyme has been implicated in the pathogenesis of atherosclerosis. There is a 10-40-fold variability in the activity of this enzyme among individuals. This variability is due to the presence of an A/G polymorphism in the coding region of the gene (HUMPONA). The A and G alleles code for glutamine (A genotype) and arginine (B genotype), respectively. Individuals with A genotype have a lower enzymatic activity than those with B genotype. We determined the HUMPONA genotypes and alleles in 223 patients with angiographically documented CAD and in 247 individuals in the general population. The distribution of genotypes were in Hardy-Weinberg equilibrium in patients and in controls. Genotypes A and B were present in 120 (49%) and 28 (11%) individuals in controls and in 68 (30%) and 40 (18%) patients with CAD, respectively (chi squared= 16.5, P= 0.0003). The frequency of the A allele was 0.69 in controls and 0.56 in patients (OR= 1.7, P= 0.0001). There were no differences in the distribution of HUMPONA genotypes in the subgroups of patients with restenosis, myocardial infarction, or any of the conventional risk factors for CAD as compared with corresponding subgroups. In summary, variants of the HUMPONA gene are involved in predisposition to coronary atherosclerosis.

  13. Guillain-Barré Syndrome after Coronary Artery Bypass Graft Surgery: a Case Report.

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

    2016-01-01

    Guillain-Barre syndrome is a neurologic disorder that may appear after infection or major surgery. Guillain-Barré 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-Barré 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.

  14. Central Retinal Artery Occlusion in a Patient with Metabolic Syndrome X

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    Sonja Predrag Cekić

    2010-01-01

    Full Text Available Purpose: To report a case of central retinal artery occlusion (CRAO in a patient with metabolic syndrome X. Case Report: A 64 year-old-man presented with abrupt, painless, and severe loss of vision in his left eye. Indirect ophthalmoscopy disclosed signs compatible with CRAO and laboratory investigations revealed erythrocyte sedimentation rate of 74 mm/h, C-reactive protein (CRP level of 21 mg/l, hyperglycemia, hyperuricemia, hypertriglyceridemia and hypercholesterolemia. Fluorescein angiography and immunological studies excluded other systemic disorders. The patient met the full criteria of the National Cholesterol Education Program for metabolic syndrome X. Conclusion: In addition to different vascular complications such as stroke, and cardiovascular disease, metabolic syndrome X may be associated with retinal vascular occlusions.

  15. Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.

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    De Groote, Katya; Demulier, Laurent; De Backer, Julie; De Wolf, Daniel; De Schepper, Jean; Tʼsjoen, Guy; De Backer, Tine

    2015-07-01

    Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

  16. Anatomical variants of the superficial temporal artery in patients with microtia: a pilot descriptive study

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    Yong, Chong Kong; Das, Srijit; Huei, Yap Lok

    2016-01-01

    Superficial temporal artery (STA) based pedicled fascial flap plays a pivotal role in ear reconstruction for microtia patients. There is paucity of literature on the anatomy of the STA in microtia patients. The present study aimed to describe any possible anatomical variations seen in the STA of patients afflicted with microtia. Pre-operative carotid computer tomographic angiography images of patients under the microtia database of Plastic and Reconstructive Surgery Unit at a tertiary medical centre were selected and 3-dimensionally reconstructed. Measurements were made on the 3D reconstructed computed tomographic angiography images of the STA on both the sides of the microtic ear and the non-microtic ear to assess its various anatomical parameters. We managed to obtain a total of 39 computed tomographic angiography images of STAs for analysis. There was a significant difference in the number of main branches of STA between the two groups (P=0.006). The proportion of ears with 2 main branches was higher in the non-microtia group (89.5%) compared to the microtia group (45.0%). A significant difference was found in the STA diameter between the two groups (P=0.012). The mean diameter of STA in the non-microtia group was larger by 0.4 mm. Furthermore, the median angle of STA was larger on the side of the non-microtic ears compared to that of microtic ears by 24.5°, with a P-value of 0.011. The results of the study may be of clinical importance while planning and performing ear reconstructive surgeries using STA based pedicled fascial flaps. PMID:28127502

  17. Fibrinogen beta variants confer protection against coronary artery disease in a Greek case-control study

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    Zakopoulos Nikolaos

    2010-02-01

    Full Text Available Abstract Background Although plasma fibrinogen levels are related to cardiovascular risk, data regarding the role of fibrinogen genetic variation in myocardial infarction (MI or coronary artery disease (CAD etiology remain inconsistent. The purpose of the present study was to investigate the effect of fibrinogen A (FGA, fibrinogen B (FGB and fibrinogen G (FGG gene SNPs and haplotypes on susceptibility to CAD in a homogeneous Greek population. Methods We genotyped for rs2070022, rs2070016, rs2070006 in FGA gene, the rs7673587, rs1800789, rs1800790, rs1800788, rs1800787, rs4681 and rs4220 in FGB gene and for the rs1118823, rs1800792 and rs2066865 SNPs in FGG gene applying an arrayed primer extension-based genotyping method (APEX-2 in a sample of CAD patients (n = 305 and controls (n = 305. Logistic regression analysis was used to calculate odds ratios (ORs and 95% confidence intervals (CIs, before and after adjustment for potential confounders. Results None of the FGA and FGG SNPs and FGA, FGB, FGG and FGA-FGG haplotypes was associated with disease occurrence after adjustment. Nevertheless, rs1800787 and rs1800789 SNPs in FGB gene seem to decrease the risk of CAD, even after adjustment for potential confounders (OR = 0.42, 95%CI: 0.19-0.90, p = 0.026 and OR = 0.44, 95%CI:0.21-0.94, p = 0.039, respectively. Conclusions FGA and FGG SNPs as well as FGA, FGB, FGG and FGA-FGG haplotypes do not seem to be important contributors to CAD occurrence in our sample. On the contrary, FGB rs1800787 and rs1800789 SNPs seem to confer protection to disease onset lowering the risk by about 50% in homozygotes for the minor alleles.

  18. Genetic variants associated with celiac disease and the risk for coronary artery disease.

    Science.gov (United States)

    Jansen, Henning; Willenborg, Christina; Schlesinger, Sabrina; Ferrario, Paola G; König, Inke R; Erdmann, Jeanette; Samani, Nilesh J; Lieb, Wolfgang; Schunkert, Heribert

    2015-10-01

    Epidemiological evidence suggests that patients with celiac disease are at increased risk for coronary artery disease (CAD). Genetic-epidemiological analyses identified many single nucleotide polymorphisms (SNPs) associated with celiac disease. If there is a causal relation between celiac disease and CAD, one might expect that risk alleles primarily associated with celiac disease also increase the risk of CAD. In this study we identified from literature 41 SNPs that have been previously described to be genome-wide associated with celiac disease (p DIsease Genome-wide Replication and Meta-analysis (CARDIoGRAM) dataset, a meta-analysis comprising genome-wide SNP association data from 22,233 CAD cases and 64,762 controls. 24 out of 41 (58.5 %) risk alleles for celiac disease displayed a positive association with CAD (CAD-OR range 1.001-1.081). The remaining risk alleles for celiac disease (n = 16) revealed CAD-ORs of ≤1.0 (range 0.951-1.0). The proportion of CAD associated alleles was greater but did not differ significantly from the proportion of 50 % expected by chance (p = 0.069). One SNP (rs653178 at the SH2B3/ATXN2 locus) displayed study-wise statistically significant association with CAD with directionality consistent effects on celiac disease and CAD. However, the effect of this locus is most likely driven by pleiotropic effects on multiple other diseases. In conclusion, this genetically based approach provided no convincing evidence that SNPs associated with celiac disease contribute to the risk of CAD. Hence, common non-genetic factors may play a more important role explaining the coincidence of these two complex disease conditions.

  19. Common variant rs9939609 in gene FTO confers risk to polycystic ovary syndrome.

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    Tao Li

    Full Text Available BACKGROUND: Fat mass and obesity-associated gene (FTO has been associated with obesity, especially the common variant rs9939609. Polycystic ovary syndrome (PCOS is a complex endocrine-metabolic disorder and over 50% of patients are overweight/obese. Thus FTO is a potential candidate gene for PCOS but their relationship is confusing and remains to be clarified in different population with a large sample size. METHOD: This study was performed adopting a two-stage design by genotyping SNP rs9939609. The first set comprise of 741 PCOS and 704 control subjects, with data from our previous GWAS. The second phase of replication study was performed among another independent group of 2858 PCOS and 2358 control subjects using TaqMan-MGB probe assay. All subjects are from Han Chinese. RESULTS: The less meaningful association of FTO rs9939609 and PCOS discovered in GWAS (P = 2.47E-03, was further confirmed in the replication study (P = 1.86E-09. Using meta-analysis, the P-meta value has reached 6.89E-12, over-exceeding the genome-wide association level of 5.00E-8. By combination, the P value was 1.26E-11 and after BMI adjustment it remained significant(P = 1.82E-06. To further elucidate whether this association is resulted from obesity or PCOS per se, the samples were divided into two groups-obese and non-obese PCOS, and the results were still positive in obese group (P obese = 5.81E-05, OR = 1.55, as well as in non-obese PCOS group (P non-obese = 7.06E-04, OR = 1.28. CONCLUSION: Variant rs9939609 in FTO is associated with PCOS in Chinese women, not only in obese PCOS subjects, but also in non-obese cases.

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

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    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.

  1. Genome-wide association study identifies African-ancestry specific variants for metabolic syndrome

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    Tekola-Ayele, Fasil; Doumatey, Ayo P.; Shriner, Daniel; Bentley, Amy R.; Chen, Guanjie; Zhou, Jie; Fasanmade, Olufemi; Johnson, Thomas; Oli, Johnnie; Okafor, Godfrey; Eghan, Benjami A.; Agyenim-Boateng, Kofi; Adebamowo, Clement; Amoah, Albert; Acheampong, Joseph; Adeyemo, Adebowale; Rotimi, Charles N.

    2015-01-01

    The metabolic syndrome (MetS) is a constellation of metabolic disorders that increase the risk of developing several diseases including type 2 diabetes and cardiovascular diseases. Although genome-wide association studies (GWAS) have successfully identified variants associated with individual traits comprising MetS, the genetic basis and pathophysiological mechanisms underlying the clustering of these traits remain unclear. We conducted GWAS of MetS in 1,427 Africans from Ghana and Nigeria followed by replication testing and meta-analysis in another continental African sample from Kenya. Further replication testing was performed in an African American sample from the Atherosclerosis Risk in Communities (ARIC) study. We found two African-ancestry specific variants that were significantly associated with MetS: SNP rs73989312[A] near CA10 that conferred increased risk (P=3.86x10−8, OR=6.80) and SNP rs77244975[C] in CTNNA3 that conferred protection against MetS (P=1.63x10−8, OR=0.15). Given the exclusive expression of CA10 in the brain, our CA10 finding strengthens previously reported link between brain function and MetS. We also identified two variants that are not African specific: rs76822696[A] near RALYL associated with increased MetS risk (P=7.37x10−9, OR=1.59) and rs7964157[T] near KSR2 associated with reduced MetS risk (P=4.52x10−8, Pmeta=7.82x10−9, OR=0.53). The KSR2 locus displayed pleiotropic associations with triglyceride and measures of blood pressure. Rare KSR2 mutations have been reported to be associated with early onset obesity and insulin resistance. Finally, we replicated the LPL and CETP loci previously found to be associated with MetS in Europeans. These findings provide novel insights into the genetics of MetS in Africans and demonstrate the utility of conducting trans-ethnic disease gene mapping studies for testing the cosmopolitan significance of GWAS signals of cardio-metabolic traits. PMID:26507551

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

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    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.

  3. Tolosa-Hunt syndrome masquerading as a carotid artery dissection

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    Taylor EJ

    2014-04-01

    Full Text Available Elise J Taylor,1 Ursula M Anders,1 Joseph R Martel,1–4 James B Martel1–4 1Research Center, Martel Eye Medical Group, Rancho Cordova, 2Graduate Medical Education, California Northstate University College of Medicine, Elk Grove, 3Department of Ophthalmology, Sutter Medical Health, Sacramento, 4Department of Ophthalmology, Dignity Health, Carmichael, CA, USA Purpose: To demonstrate the difficulties of diagnosing a patient with Tolosa-Hunt syndrome (THS due to its complicated presentation and extensive diagnostic testing, and how to manage the treatment of a patient in an emergent setting. Patients and methods: A female patient with THS affecting the left eye was examined using two magnetic resonance imaging (MRI scans. The patient was treated with high-dose methylprednisolone (Solu-Medrol® and prednisone. A follow-up MRI and magnetic resonance angiogram (MRA was also performed 4 months later. Results: The second MRI scan disclosed a 5x9x10 mm lesion in the left superior orbital fissure/cavernous sinus. After administration of methylprednisolone and prednisone, the patient’s pain completely resolved, and the left eye regained full duction and eyelid mobility. The MRI and MRA obtained after the treatment showed no abnormalities. Conclusion: The rarity of THS makes it difficult to diagnose, especially when there is a question of accuracy and reproducibility of the testing performed. An ophthalmologic consultation in such cases is crucial. Keywords: granulomatous lesion, painful ophthalmoplegia, idiopathic orbital inflammation, multiple cranial nerve palsies  

  4. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

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    Jacquinet, Adeline; Verloes, Alain; Callewaert, Bert; Coremans, Christine; Coucke, Paul; de Paepe, Anne; Kornak, Uwe; Lebrun, Frederic; Lombet, Jacques; Piérard, Gérald E; Robinson, Peter N; Symoens, Sofie; Van Maldergem, Lionel; Debray, François-Guillaume

    2014-04-01

    We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of Marfan syndrome. A de novo donor splice-site mutation (c.8226+1G>A) was identified in FBN1. We show that this mutation leads to exon 64 skipping and to the production of a stable mRNA that should allow synthesis of a truncated profibrillin-1, in which the C-terminal furin cleavage site is altered. FBN1 mutations associated with a similar phenotype have only been reported in four other patients. We confirm the correlation between marfanoid phenotype with congenital lipodystrophy and neonatal progeroid features (marfanoid-progeroid-lipodystrophy syndrome) and frameshift mutations at the 3' end of FBN1. This syndrome should be considered in differential diagnosis of neonatal progeroid syndromes.

  5. 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.

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

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    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.

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

    Directory of Open Access Journals (Sweden)

    David Kachlik

    2016-03-01

    Full Text Available 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.

  8. Facial Diplegia with Paresthesia: An Uncommon Variant of Guillain–Barre Syndrome

    Science.gov (United States)

    Charaniya, Riyaz; Bahl, Anish; Ghosh, Anindya; Dixit, Juhi

    2016-01-01

    Facial nerve palsy (FNP) is a common medical problem and can be unilateral or bilateral. Unilateral facial palsy has an incidence of 25 per 100,000 population and most of them are idiopathic. However, facial diplegia or bilateral facial nerve palsy (B-FNP) is rare with an incidence of just 1 per 5,000,000 population and only 20 percent cases are idiopathic. Facial diplegia is said to be simultaneous if the other side is affected within 30 days of involvement of first side. Guillain-Barre Syndrome (GBS) is a common cause of facial diplegia and almost half of these patients have facial nerve involvement during their illness. Facial Diplegia with Paresthesias (FDP) is a rare localized variant of GBS which is characterized by simultaneous facial diplegia, distal paresthesias and minimal or no motor weakness. We had a patient who presented with simultaneous weakness of bilateral facial nerve and paresthesias. A diagnosis of GBS was made after diligent clinical examination and relevant investigations. Patient responded to IVIG therapy and symptoms resolved within two weeks of therapy. PMID:27630886

  9. A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant

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    Alessio Cortelazzo

    2013-01-01

    Full Text Available Rett syndrome (RTT is a progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2. Although over 200 mutations types have been identified so far, nine of which the most frequent ones. A wide phenotypical heterogeneity is a well-known feature of the disease, with different clinical presentations, including the classical form and the preserved speech variant (PSV. Aim of the study was to unveil possible relationships between plasma proteome and phenotypic expression in two cases of familial RTT represented by two pairs of sisters, harbor the same MECP2 gene mutation while being dramatically discrepant in phenotype, that is, classical RTT versus PSV. Plasma proteome was analysed by 2-DE/MALDI-TOF MS. A significant overexpression of six proteins in the classical sisters was detected as compared to the PSV siblings. A total of five out of six (i.e., 83.3% of the overexpressed proteins were well-known acute phase response (APR proteins, including alpha-1-microglobulin, haptoglobin, fibrinogen beta chain, alpha-1-antitrypsin, and complement C3. Therefore, the examined RTT siblings pairs proved to be an important benchmark model to test the molecular basis of phenotypical expression variability and to identify potential therapeutic targets of the disease.

  10. Association between Common Genetic Variants and Polycystic Ovary Syndrome Risk in a Chinese Han Population

    Science.gov (United States)

    Sun, Ying; Yuan, Yi; Yang, Hua; Li, Jingjie; Feng, Tian; Ouyang, Yongri; Jin, Tianbo; Liu, Ming

    2016-01-01

    Objective: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies affecting 5-7% of reproductive age women worldwide. The aim of our study was to explore the PCOS-related single nucleotide polymorphism (SNP) associations between common genetic variants and PCOS risk in a Han Chinese women population. Methods: In this case-control study, 285 Chinese Han women aged 28.50±6.858 years with PCOS and 299 controls of a mean age of 32.66±7.018 years were compared. We selected recently published genome-wide association studies (GWAS) which identified several genetic loci in PCOS. All the SNPs were genotyped by Sequenom Mass-ARRAY technology. Associations between the gene and the risk of PCOS were tested using various genetic models by Statistical Package for the Social Sciences and Plink. Results: We found that rs705702 in the RAB5B/SUOX was associated with PCOS (odds ratio=1.42; 95% confidence interval=1.08-1.87, p=0.011) and increased the PCOS risk. The genotypic model analysis also showed that rs705702 was associated with PCOS risk. Conclusion: Our results suggest that SNPs rs705702 in gene RAB5B/SUOX was associated with PCOS in Han Chinese women. PMID:27217259

  11. 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.

  12. 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.

  13. High prevalence of genetic variants previously associated with LQT syndrome in new exome data

    DEFF Research Database (Denmark)

    Refsgaard, Lena; Holst, Anders G; Sadjadieh, Golnaz;

    2012-01-01

    Exome Sequencing Project (ESP) has provided important knowledge on this topic. We aimed to investigate the prevalence of previously LQTS-associated variants in ESP (5400 individuals), in order to identify possible false-positive LQTS variants. With this aim, we performed a search for previously...... published LQTS-associated variants in ESP. In addition, a PolyPhen-2 prediction was conducted, and the four most prevalent LQTS-associated variants with significant functional effects present in ESP were genotyped in a second control population. We identified 33 missense variants previously associated...... with LQTS in ESP. These 33 variants affected 173 alleles and this corresponded to a LQTS prevalence of 1:31 in the ESP population. PolyPhen-2 predicted 30% of the 33 variants present in ESP to be benign compared with 13% among LQTS-associated variants not present in ESP (P=0.019). Genotyping of the four...

  14. High flow variant postural orthostatic tachycardia syndrome amplifies the cardiac output response to exercise in adolescents.

    Science.gov (United States)

    Pianosi, Paolo T; Goodloe, Adele H; Soma, David; Parker, Ken O; Brands, Chad K; Fischer, Philip R

    2014-08-01

    Postural orthostatic tachycardia syndrome (POTS) is characterized by chronic fatigue and dizziness and affected individuals by definition have orthostatic intolerance and tachycardia. There is considerable overlap of symptoms in patients with POTS and chronic fatigue syndrome (CFS), prompting speculation that POTS is akin to a deconditioned state. We previously showed that adolescents with postural orthostatic tachycardia syndrome (POTS) have excessive heart rate (HR) during, and slower HR recovery after, exercise - hallmarks of deconditioning. We also noted exaggerated cardiac output during exercise which led us to hypothesize that tachycardia could be a manifestation of a high output state rather than a consequence of deconditioning. We audited records of adolescents presenting with long-standing history of any mix of fatigue, dizziness, nausea, who underwent both head-up tilt table test and maximal exercise testing with measurement of cardiac output at rest plus 2-3 levels of exercise, and determined the cardiac output () versus oxygen uptake () relationship. Subjects with chronic fatigue were diagnosed with POTS if their HR rose ≥40 beat·min(-1) with head-up tilt. Among 107 POTS patients the distribution of slopes for the , relationship was skewed toward higher slopes but showed two peaks with a split at ~7.0 L·min(-1) per L·min(-1), designated as normal (5.08 ± 1.17, N = 66) and hyperkinetic (8.99 ± 1.31, N = 41) subgroups. In contrast, cardiac output rose appropriately with in 141 patients with chronic fatigue but without POTS, exhibiting a normal distribution and an average slope of 6.10 ± 2.09 L·min(-1) per L·min(-1). Mean arterial blood pressure and pulse pressure from rest to exercise rose similarly in both groups. We conclude that 40% of POTS adolescents demonstrate a hyperkinetic circulation during exercise. We attribute this to failure of normal regional vasoconstriction during exercise, such that patients must increase flow through an

  15. Treatment strategies in the left main coronary artery disease associated with acute coronary syndromes

    Directory of Open Access Journals (Sweden)

    Ahmet Karabulut

    2015-10-01

    Full Text Available Significant left main coronary artery (LMCA stenosis is not rare and reported 3 to 10% of patients undergoing coronary angiography. Unprotected LMCA intervention is a still clinical challenge and surgery is still going to be a traditional management method in many cardiac centers. With a presentation of drug eluting stent (DES, extensive use of IVUS and skilled operators, number of such interventions increased rapidly which lead to change in recommendation in the guidelines regarding LMCA procedures in the stable angina (Class 2a recommendation for ostial and shaft lesion and class 2b recommendation for distal bifurcation lesion. However, there was not clear consensus about the management of unprotected LMCA lesion associated with acute myocardial infarction (MI with a LMCA culprit lesion itself or distinct culprit lesion of other major coronary arteries. Surgery could be preferred as an obligatory management strategy even in the high risk patients. With this review, we aimed to demonstrate treatment strategies of LMCA disease associated with acute coronary syndrome, particularly acute myocardial infarction (MI. In addition, we presented a short case series with LMCA lesion and ST elevated acute MI in which culprit lesion placed either in the left anterior descending artery or circumflex artery. We reviewed the current medical literature and propose simple algorithm for management.

  16. Is arterial stiffness predicted by continuous metabolic syndrome score in obese children?

    Science.gov (United States)

    Prochotska, Katarina; Kovacs, Laszlo; Vitariusova, Eva; Feber, Janusz

    2016-01-01

    The aim of the article was to evaluate arterial stiffness, an early marker of increased cardiovascular risk, in relation to obesity. The continuous metabolic syndrome (cMetS) score was calculated as sum of Z score of mean arterial pressure, body mass index, serum glucose, triglyceride, and high-density lipoprotein cholesterol in 144 obese patients and 66 nonobese controls. Ambulatory arterial stiffness index (AASI) was calculated as 1 minus regression slope of diastolic on systolic blood pressure from ambulatory blood pressure measurements. The mean AASI increased progressively with severity of obesity. The receiver operator curve analysis of body mass index and AASI showed area under the curve of 0.64 ± 0.06; cMetS area under the curve was 0.72 ± 0.05 suggesting a better predictive power of the cMetS for an increased AASI (>0.3). Patients with obesity have significantly higher arterial stiffness. A composite score such as cMetS seems to be better predictor of an increased stiffness than individual risk factors.

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

    Science.gov (United States)

    Pereira, Filipa; Cardoso, Teresa; Sá, Paula

    2015-01-01

    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. PMID:26175915

  18. Postcoital Internal Carotid Artery Dissection Presenting as Isolated Painful Horner Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Eren Gozke

    2013-01-01

    Full Text Available Postcoital artery dissection is a rare condition. Here we report a 40-year-old male patient with painful Horner syndrome related to postcoital internal carotid artery (ICA dissection. In neurologic examination of the patient, semiptosis, enophthalmus, and myosis were observed on the left side. There were no carotid bruits. On T1-weighted and fat-suppressed cranial MRI, hyperintensity consistent with intramural hematoma was observed within cervical and temporal petrous segments of left ICA. On cervical and cranial MRA, marked decrease in the calibration of C1 and C2 segments of the left ICA was remarkable. The patient was diagnosed as left ICA dissection and anticoagulant therapy was initiated. A prominent improvement was noted in clinical findings during two months of followup period.

  19. Call-Fleming Syndrome (Reversible Cerebral Artery Vasoconstriction and Aneurysm Associated with Multiple Recreational Drug Use

    Directory of Open Access Journals (Sweden)

    Doniel Drazin

    2013-01-01

    Full Text Available Drug abuse represents a significant health issue. Evidence suggests that recreational drug use has a direct effect on the cerebral vasculature and is of greater concern in those with undiagnosed aneurysms or vascular malformations. The authors report a case of thunderclap headache with a negative head CT and equivocal lumbar puncture after a drug-fueled weekend. The patient underwent diagnostic cerebral angiogram which demonstrated multisegmental, distal areas of focal narrowing of the middle, anterior, posterior, and posterior inferior cerebral artery and an incidental aneurysm. It is often difficult to determine the exact origin of symptoms; thus we were left with a bit of a chicken or the egg debate, trying to decipher which part came first. Either the aneurysm ruptured with associated concomitant vasospasm or it is a case of Call-Fleming syndrome (reversible cerebral artery vasoconstriction with an incidental aneurysm. The authors proposed their management and rationale of this complex case.

  20. Call-fleming syndrome (reversible cerebral artery vasoconstriction) and aneurysm associated with multiple recreational drug use.

    Science.gov (United States)

    Drazin, Doniel; Alexander, Michael J

    2013-01-01

    Drug abuse represents a significant health issue. Evidence suggests that recreational drug use has a direct effect on the cerebral vasculature and is of greater concern in those with undiagnosed aneurysms or vascular malformations. The authors report a case of thunderclap headache with a negative head CT and equivocal lumbar puncture after a drug-fueled weekend. The patient underwent diagnostic cerebral angiogram which demonstrated multisegmental, distal areas of focal narrowing of the middle, anterior, posterior, and posterior inferior cerebral artery and an incidental aneurysm. It is often difficult to determine the exact origin of symptoms; thus we were left with a bit of a chicken or the egg debate, trying to decipher which part came first. Either the aneurysm ruptured with associated concomitant vasospasm or it is a case of Call-Fleming syndrome (reversible cerebral artery vasoconstriction) with an incidental aneurysm. The authors proposed their management and rationale of this complex case.

  1. Apolipoprotein E gene variants as a risk factor for coronary artery disease in type 2 diabetic Egyptian patients.

    Science.gov (United States)

    Halim, Emad F Abd El; Reda, Ahmed A; Hendi, Amera A K; Zaki, Seham A; Essa, Enas S; Khalifa, Amani S

    2012-01-01

    Patients with diabetes mellitus (DM) have increased mortality and morbidity of cardiovascular diseases compared with non-diabetic patients. The role of apolipoprotain E in lipid metabolism and cholesterol transport is well established. Apolipoprotein E gene (APO E) polymprphism that confers susceptibility to or protection from CAD in patients with type 2 DM may be quite different in different ethnic populations. We aimed to determine the frequencies of allelic variants of APO E in Egyptian population and to examine the relationship between APO E polymorphism and risk of coronary artery disease (CAD) in Egyptian type 2 diabetic patients. The study included 35 diabetic patients with CAD (group 1), 35 diabetic patients without CAD (group II) and 30 control subjects. All were subjected to history taking, clinical examination, and laboratory investigations for lipid profile and APO E genotyping by PCR-RFLP. Results revealed that epsilon3 allele was the commonest among the studied subjects (84%). The frequencies of epsilon2 and epsilon4 alleles were higher in group I (24.3% and 8.6% respectively) than group II and controls. The frequency of E2/E2, E2/E3, and E4/E3 genotypes was significantly higher in group I than group II and controls. Comparing group I vs. controls and group I vs. group II, multivariate analysis demonstrated significantly increased risk for CAD with epsilon4 and epsilon2 alleles vs. E3 (OR=7.02 and 4.97 respectively). In Conclusion, epsilon4 and E2 alleles are associated with higher risk of CAD in type2 DM than epsilon3 allele. Larger scale studies are still needed to either confirm or modify these results.

  2. 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.

    Science.gov (United States)

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

    2009-12-23

    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 injury and subsequently these were confirmed on surgery.Although it is a rare syndrome, early diagnosis and treatment prevents permanent neurological deficits and improve patient's quality of life.

  3. An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects

    Science.gov (United States)

    Ackerman, Christine; Locke, Adam E.; Feingold, Eleanor; Reshey, Benjamin; Espana, Karina; Thusberg, Janita; Mooney, Sean; Bean, Lora J.H.; Dooley, Kenneth J.; Cua, Clifford L.; Reeves, Roger H.; Sherman, Stephanie L.; Maslen, Cheryl L.

    2012-01-01

    About half of people with trisomy 21 have a congenital heart defect (CHD), whereas the remainder have a structurally normal heart, demonstrating that trisomy 21 is a significant risk factor but is not causal for abnormal heart development. Atrioventricular septal defects (AVSD) are the most commonly occurring heart defects in Down syndrome (DS), and ∼65% of all AVSD is associated with DS. We used a candidate-gene approach among individuals with DS and complete AVSD (cases = 141) and DS with no CHD (controls = 141) to determine whether rare genetic variants in genes involved in atrioventricular valvuloseptal morphogenesis contribute to AVSD in this sensitized population. We found a significant excess (p < 0.0001) of variants predicted to be deleterious in cases compared to controls. At the most stringent level of filtering, we found potentially damaging variants in nearly 20% of cases but fewer than 3% of controls. The variants with the highest probability of being damaging in cases only were found in six genes: COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5. Several of the case-specific variants were recurrent in unrelated individuals, occurring in 10% of cases studied. No variants with an equal probability of being damaging were found in controls, demonstrating a highly specific association with AVSD. Of note, all of these genes are in the VEGF-A pathway, even though the candidate genes analyzed in this study represented numerous biochemical and developmental pathways, suggesting that rare variants in the VEGF-A pathway might contribute to the genetic underpinnings of AVSD in humans. PMID:23040494

  4. [New criteria for the classification of the popliteal artery entrapment syndrome. Our experience with 14 extremities].

    Science.gov (United States)

    Fernández Valenzuela, V; Matas, M; Maeso, J; Díaz, J; Juan, J; de Sobregrau, R C

    1991-01-01

    Authors explain their experiences with eight patients (14 affected limbs) with a popliteal artery entrapment syndrome. Classification, diagnosis and treatment were reviewed. Six limbs, with any malformation and presenting as a unique sign an important hypertrophy of their intern gastrocnemius muscle, couldn't be classified. As a result, a new classification of this pathology is presented being based on the anatomical and arteriographic aspects as well as oh the surgical indication. The important correlation between anomaly, physical complexion typus athletic and sports is noted.

  5. Delayed-Onset Superior Mesenteric Artery Syndrome Presenting as Oesophageal Peptic Stricture

    Directory of Open Access Journals (Sweden)

    Emanuele Sinagra

    2012-02-01

    Full Text Available Superior mesenteric artery (SMA syndrome is an infrequent cause of vomiting and weight loss due to compression of the third part of the duodenum by the SMA. We describe the case of a 17-year-old woman, admitted to our department for progressive dysphagia and severe weight loss due to an oesophageal peptic stricture, caused by chronic acid reflux secondary to duodenal compression by the SMA. Symptoms improved after (parenteral nutrition and repeated oesophageal dilatation, thus supporting the role of intensive medical and endoscopic intervention as an alternative to surgery, at least in some cases.

  6. [A case of true neurogenic thoracic outlet syndrome accompanied by an aberrant right subclavian artery].

    Science.gov (United States)

    Sekiguchi, Kenji; Saito, Takanori; Yokota, Ichiro; Kowa, Hisatomo; Kanda, Fumio; Toda, Tatsushi

    2015-01-01

    A 65-year-old woman experienced progressive intrinsic muscle wasting on the right hand over a period of 7 years. The distribution of muscular atrophy and weakness was consistent with the area innervated by the right C8 and Th1 nerve roots. Neurophysiological examination suggested a right lower trunk lesion. An elongated right transverse process of the C7 vertebra and an aberrant subclavian artery were detected on computed tomography images, and the right lower trunk of the brachial plexus appeared to be lifted upward on magnetic resonance images. The patient was diagnosed with true neurogenic thoracic outlet syndrome. A fibrous band extending from the elongated transverse process was found during surgery, and symptoms did not progress further after resection of the band. True neurogenic thoracic outlet syndrome can cause monomelic amyotrophy, and localized neuroimaging and detailed neurophysiological examination were useful for diagnosis.

  7. X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

    Science.gov (United States)

    Savige, Judith; Storey, Helen; Il Cheong, Hae; Gyung Kang, Hee; Park, Eujin; Hilbert, Pascale; Persikov, Anton; Torres-Fernandez, Carmen; Ars, Elisabet; Torra, Roser; Hertz, Jens Michael; Thomassen, Mads; Shagam, Lev; Wang, Dongmao; Wang, Yanyan; Flinter, Frances; Nagel, Mato

    2016-01-01

    Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. It also determined genotype-phenotype correlations for variants where clinical data were available. Individuals were referred for genetic testing where Alport syndrome was suspected clinically or on biopsy (renal failure, hearing loss, retinopathy, lamellated glomerular basement membrane), variant pathogenicity was assessed using currently-accepted criteria, and variants were examined for gene location, and age at renal failure onset. Results were compared using Fisher's exact test (DNA Stata). Altogether 754 new DNA variants were identified, an increase of 25%, predominantly in people of European background. Of the 1168 COL4A5 variants, 504 (43%) were missense mutations, 273 (23%) splicing variants, 73 (6%) nonsense mutations, 169 (14%) short deletions and 76 (7%) complex or large deletions. Only 135 of the 432 Gly residues in the collagenous sequence were substituted (31%), which means that fewer than 10% of all possible variants have been identified. Both missense and nonsense mutations in COL4A5 were not randomly distributed but more common at the 70 CpG sequences (pAla substitutions were underrepresented in all three genes (p< 0.0001) probably because of an association with a milder phenotype. The average age at end-stage renal failure was the same for all mutations in COL4A5 (24.4 ±7.8 years), COL4A3 (23.3 ± 9.3) and COL4A4 (25.4 ± 10.3) (COL4A5 and COL4A3, p = 0.45; COL4A5 and COL4A4, p = 0.55; COL4A3 and COL4A4, p = 0.41). For COL4A5, renal failure occurred sooner with non-missense than missense variants (p<0.01). For the COL4A3 and COL4A4 genes, age at renal failure occurred sooner with two non

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

    Institute of Scientific and Technical Information of China (English)

    Zhi-Gang Deng; Jian-Yin Zhou; Zhen-Yu Yin; You-Yuan Peng; Fu-Qiang Wang; Xiao-Min Wang

    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).METHODS: We presented our recent experience in 8 patients with SAP. The patients developed clinical ACS, which required abdominal decompression. During the operation, a DDS was inserted into the peripancreatic artery (the catheter was inserted from the right gastroepiploic artery until it reached the junction between the pancreaticoduodenal and gastroduodenal artery). Through this DDS, a protease inhibitor, antibiotics and octreotide were infused continuously. The duration of the regional artery infusion ranged from 8 to 41 d. The outcomes and the changes in the APACHE Ⅱ score, computed tomography (CT) severity index and intra-abdominal pressure (IAP) of the patients were retrospectively evaluated.RESULTS: Eight patients with an initial APACHE Ⅱscore of 18.9 (range, 13-27) and a Balthazar CT severity index of 9.1 (range, 7-10) developed severe local and systemic complications. These patients underwent subsequent surgical decompression and CRAI therapy because of intra-abdominal hypertension (IAH). After a mean interval of 131.9 ± 72.3 d hospitalization, 7 patients recovered with decreased APACHE Ⅱ scores, CT severity indexes and IAP. The mean APACHE Ⅱ score was 5.4 (range, 4-8), the CT severity index was 2.3 (range, 1-3), and IAP decreased to 7.7 mmHg (range,6-11 mmHg) 60 d after operation. One patient died of multiple organ failure 1 wk after surgery.CONCLUSION: CRAI and laparotomic decompression might be a therapeutic option for SAP patients with ACS.

  9. Metabolic syndrome and coronary artery disease in Ossabaw compared with Yucatan swine.

    Science.gov (United States)

    Neeb, Zachary P; Edwards, Jason M; Alloosh, Mouhamad; Long, Xin; Mokelke, Eric A; Sturek, Michael

    2010-08-01

    Metabolic syndrome (MetS), a compilation of associated risk factors, increases the risk of type 2 diabetes and coronary artery disease (CAD, atherosclerosis), which can progress to the point of artery occlusion. Stents are the primary interventional treatment for occlusive CAD, and patients with MetS and hyperinsulinemia have increased restenosis. Because of its thrifty genotype, the Ossabaw pig is a model of MetS. We tested the hypothesis that, when fed high-fat diet, Ossabaw swine develop more features of MetS, greater native CAD, and greater stent-induced CAD than do Yucatan swine. Animals of each breed were divided randomly into 2 groups and fed 2 different calorie-matched diets for 40 wk: control diet (C) and high-fat, high-cholesterol atherogenic diet (H). A bare metal stent was placed in the circumflex artery, and pigs were allowed to recover for 3 wk. Characteristics of MetS, macrovascular and microvascular CAD, in-stent stenosis, and Ca(2+) signaling in coronary smooth muscle cells were evaluated. MetS characteristics including, obesity, glucose intolerance, hyperinsulinemia, and elevated arterial pressure were elevated in Ossabaw swine compared to Yucatan swine. Ossabaw swine with MetS had more extensive and diffuse native CAD and in-stent stenosis and impaired coronary blood flow regulation compared with Yucatan. In-stent atherosclerotic lesions in Ossabaw coronary arteries were less fibrous and more cellular. Coronary smooth muscle cells from Ossabaw had impaired Ca(2+) efflux and intracellular sequestration versus cells from Yucatan swine. Therefore, Ossabaw swine are a superior model of MetS, subsequent CAD, and cellular Ca(2+) signaling defects, whereas Yucatan swine are leaner and relatively resistant to MetS and CAD.

  10. Embolisation of Posttraumatic Superior Mesenteric Artery Pseudoaneurysm in a Patient with Short Bowel Syndrome Preceding Bowel Transplantation

    Directory of Open Access Journals (Sweden)

    Vinko Vidjak

    2011-01-01

    Full Text Available Penetrating abdominal trauma often causes bowel injuries which may lead to “short bowel syndrome” which is a potential indication for bowel transplantation. Posttraumatic pseudoaneurysms of abdominal arteries are often a result of penetrating abdominal trauma. We report a successful embolisation of posttraumatic superior mesenteric artery (SMA branch pseudoaneurysm using microcoil, in a patient with short bowel syndrome who was successfully transplanted three months after embolisation.

  11. Superior Mesenteric Artery Syndrome due to a Vertebral Hemangioma and Postpartum Osteoporosis following Treatment

    Directory of Open Access Journals (Sweden)

    Mehmet Elmadag

    2015-01-01

    Full Text Available In pregnancy, advanced vertebral hemangiomas may be seen, and these require treatment. The case reported here is of a 35-year-old female in the 32nd week of pregnancy who was admitted to the orthopaedics clinic with a history of backache and difficulty walking. A burst fracture of L1 associated with a vertebral hemangioma was identified with an L3 compression fracture secondary to osteoporosis. The local kyphosis angle between T12 and L2 was 27°. Kyphotic deformity was corrected and postoperatively, the measured T12–L2 local kyphotic angle was 9°. Twelve hours postoperatively, oral nutrition was allowed, but she developed nausea and vomiting and twenty-four hours postoperatively, an electrolyte imbalance developed. Postoperatively, the patient was diagnosed with superior mesenteric artery syndrome. To the best of our knowledge, this is the first reported case of superior mesenteric artery syndrome, which occurred following the correction of a kyphotic deformity that had developed secondary to an advanced hemangioma in pregnancy.

  12. 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.

  13. Síndrome da artéria mesentérica superior Superior mesenteric artery syndrome

    OpenAIRE

    Haberlandh Sodré Lima; Accyoli Moreira Maia; Antonio Kneipp Pitta de Castro Neto

    2000-01-01

    The Superior Mesenteric Syndrome is a rare and controversial disease. The compression of the duodenum by the mesenteric artery and aorta causes an intermitent obstruction. Preoperative diagnosis is very difficult.We present one case of this syndrome in a pacient with severe weight loss and signs of high intestinal obstruction. The diagnosis was based on clinical and radiologic findings. A duodenojejunostomy was performed after medical treatment failure.This patient died on the 20th posoperati...

  14. 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

    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

  15. 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

    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 (...... that disrupt the LDL receptor can lower non-HDL-C and protect against CAD....... (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...

  16. [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.

  17. Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland.

    Science.gov (United States)

    Schubert, Stephanie; Haas, Cordula; Bartsch, Christine; Mirshekarnejad, Mandana; Kohrs, Sarah; Roettinger, Irene; Grosshennig, Anika; Stuhrmann, Manfred; Scholz, Caroline; Schmidtke, Jörg

    2015-02-01

    Sudden infant death syndrome (SIDS) is currently the major cause of an unexpected and unexplained death of infants in the first year of lifetime in industrialized countries. Besides environmental factors also genetic factors have been identified as risk factors for SIDS. Notably, the mutation c.457dupG (p.Glu153Glyfs*17) in the TSPYL1 gene has been reported to cause autosomal recessive sudden infant death with dysgenesis of the testes syndrome (SIDDT) in an Old Order Amish community in Pennsylvania. The purpose of this study was to analyze whether variants of TSPYL1 are associated with the sudden infant death syndrome (SIDS) in the area of Europe from which the Amish descended. Mutation analysis of the entire TSPYL1 gene was performed in a cohort of 165 SIDS cases with mostly Swiss ethnic origin, in comparison to 163 German controls. Eight known polymorphisms were detected, none of which was significantly associated with SIDS. One deceased girl was heterozygous for the hitherto unreported TSPYL1 variant c.106C>G (p.Leu36Val), and two affected girls were heterozygous for the rare known TSPYL1 variant rs140756663 (c.1098C>A, p.Phe366Leu). In addition, one deceased boy was heterozygous for the rare common silent nucleotide substitution c.718C>T (p.Leu240Leu, rs150144081), while one control was heterozygous for the rare silent nucleotide substitution rs56190632 (c.760C>T; p.Leu254Leu). In silico analyses predicted a likely non-pathogenic effect for p.Leu36Val and p.Phe366Leu, respectively, although protein features might be affected. The Amish founder mutation was not detected in the analyzed SIDS cases and controls. Mutations and polymorphisms in the TSPYL1 gene were not associated with SIDS in a cohort of 165 deceased Swiss infants.

  18. Platelet abnormalities in adults with severe pulmonary arterial hypertension related to congenital heart defects (Eisenmenger syndrome).

    Science.gov (United States)

    Remková, Anna; Šimková, Iveta; Valkovičová, Tatiana; Kaldarárová, Monika

    2016-12-01

    Patients with severe pulmonary arterial hypertension suffer from life-threatening thrombotic and bleeding complications. The aim of this study was to compare selected platelet, endothelial, and coagulation parameters in healthy volunteers and patients with severe pulmonary arterial hypertension because of congenital heart defects. The study included healthy volunteers (n = 50) and patients with cyanotic congenital heart defects classified as Eisenmenger syndrome (n = 41). We investigated platelet count, mean platelet volume, and platelet aggregation - spontaneous and induced by various concentrations of five agonists. Von Willebrand factor (vWF), fibrinogen, factor VIII and XII, plasminogen activator inhibitor, antithrombin, D-dimer, and antiphospholipid antibodies were also investigated. We found a decreased platelet count [190 (147-225) vs. 248 (205-295) 10 l, P < 0.0001], higher mean platelet volume [10.9 (10.1-12.0) vs. 10.2 (9.4-10.4) fl, P < 0.0001], and significantly decreased platelet aggregation (induced by five agonists, in various concentrations) in patients with Eisenmenger syndrome compared with controls. These changes were accompanied by an increase of plasma vWF antigen [141.6 (108.9-179.1) vs. 117.4 (9.2-140.7) IU/dl, P = 0.022] and serum anti-β2-glycoprotein [2.07 (0.71-3.41) vs. 0.47 (0.18-0.99) U/ml, P < 0.0001]. Eisenmenger syndrome is accompanied by platelet abnormalities. Thrombocytopenia with increased platelet size is probably due to a higher platelet turnover associated with platelet activation. Impaired platelet aggregation can reflect specific platelet behaviour in patients with Eisenmenger syndrome. These changes can be related both to bleeding and to thrombotic events. A higher vWF antigen may be a consequence of endothelial damage in Eisenmenger syndrome, but the cause for an increase of anti-β2-glycoprotein is unknown.

  19. Kartagener′s syndrome in a fertile male - An uncommon variant

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    Barthwal M

    2006-01-01

    Full Text Available Primary ciliary dyskinesia, with Kartagener′s syndrome as one of the subsets, is an autosomal recessive disorder with significant genetic heterogeneity. A 26-year old male with this syndrome, presenting with recurrent upper and lower respiratory tract infection, was found to be fertile. The case is being reported for uncommon occurrence of this syndrome with male fertility.

  20. Late-onset superior mesenteric artery syndrome four years following scoliosis surgery – a case report

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    Abol Oyoun Nariman

    2015-01-01

    Full Text Available Background: Superior mesenteric artery (SMA syndrome has been reported as an uncommon condition of external vascular compression of the SMA particularly after rapid weight loss, body casts, or after corrective surgery for spinal deformities, usually within the first few weeks after surgery. Methods: This is a retrospective report of a case of a non-verbal autistic female patient who started to develop SMA syndrome at the age of 16, 4 years after posterior spinal fusion surgery for scoliosis. She was treated conservatively by increasing oral caloric intake, which resulted in increased body weight and relief of symptoms. Results: Seen at 10 years’ follow up, the patient is doing well, and is functional within the limits of her suboptimal cognitive and verbal conditions. She maintains good trunk balance with solid spinal fusion and intact instrumentation at latest follow up. Conclusion: Spinal surgeons should maintain a high index of suspicion for diagnosis of SMA syndrome even years after scoliosis surgery, especially for patients with communication problems, like the case we present here. Appropriate conservative measures can succeed in relieving the symptoms, increasing body weight, and preventing complications including the risk of death.

  1. Severe arterial hypertension: a possible complication of McCune-Albright syndrome.

    Science.gov (United States)

    Ohata, Yasuhisa; Yamamoto, Takehisa; Mori, Ikuko; Kikuchi, Toru; Michigami, Toshimi; Imanishi, Yasuo; Satomura, Kenichi; Ida, Shinobu; Ozono, Keiichi

    2009-07-01

    McCune-Albright syndrome is characterized by café-au-lait spot, multiple endocrine hyperfunction, and polyostotic fibrous dysplasia. A somatic point mutation of Gsalpha protein leads to an increase in the Gsalpha-associated hormone activity in McCune-Albright syndrome. Because cyclic adenosine 3',5'-monophosphate stimulates the dopamine beta hydroxylase gene, an activating mutation of the Gsalpha protein may cause the hyperproduction of norepinephrine via dopamine. We report on a 9-year-old girl with McCune-Albright syndrome complicated by severe arterial hypertension. The urinary excretion of norepinephrine was 5- to 10-fold higher than in age-matched controls. Meta-iodobenzylguanidine scintigraphy and positron emission tomography/computed tomography (PET/CT) revealed no hot spots. These findings suggest that severe hypertension might be due to an activating mutation of Gsalpha protein in sympathetic ganglia. Because of the reported association of GNAS1 gene polymorphism with hypertension, our patient provides further evidence for a role of Gsalpha protein in hypertension.

  2. Genetic variants within telomere-associated genes, leukocyte telomere length and the risk of acute coronary syndrome in Czech women.

    Science.gov (United States)

    Dlouha, Dana; Pitha, Jan; Mesanyova, Jana; Mrazkova, Jolana; Fellnerova, Adela; Stanek, Vladimir; Lanska, Vera; Hubacek, Jaroslav A

    2016-02-15

    The association between leukocyte telomere length (LTL) and cardiovascular disease (CVD) has been published in many reports, although almost exclusively in men. In our study we analysed the association between LTL and five selected variants within three candidate genes (TERC rs12696304; TERF2IP rs3784929 and rs8053257; UCP2 rs659366 and rs622064), which are not only involved in telomere-length maintenance but also potentially associated with higher risk of acute coronary syndrome (ACS) in Czech women (505 cases and 642 controls). We detected significantly shorter LTL in women with ACS (Ptelomere length or ACS risk in Czech females.

  3. Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis

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    Stanke Frauke

    2007-06-01

    Full Text Available Abstract Background The chemokine receptor CCR7 is a key organizer of the immune system. Gene targeting in mice revealed that Ccr7-deficient animals are severely impaired in the induction of central and peripheral tolerance. Due to these defects, Ccr7-deficient mice spontaneously develop multi-organ autoimmunity showing symptoms similar to those observed in humans suffering from connective tissue autoimmune diseases. However, it is unknown whether mutations of CCR7 are linked to autoimmunity in humans. Results DNA samples were collected from 160 patients suffering from connective tissue autoimmune disease (Sjogren's syndrome, n = 40; systemic lupus erythematosus, SLE, n = 20 and systemic sclerosis, n = 100 and 40 health subjects (n = 40. All participants in this study were of German descent. Samples were screened for single nucleotide polymorphisms (SNP by sequencing the coding region of the CCR7 gene as well asthe exon flaking intron sites and parts of the regions encoding for the 5'- and 3'-UTR. CCR7 variants were rare. We identified six different sequence variants, which occurred in heterozygosis. The identified SNP were observed at position -60 C/T (observed 1x, +6,476 A/G (7x, +6,555 C/T (15x, +6,560 C/T (6x, +10,440 A/G (3x and +11,475 C/A (1x. Four of these variants (+6,476 A/G, +6,555 C/T, +6,560 C/T and +10,440 A/G display allelic frequencies between 1% and 5 % and were present in both patients and control groups. The variants +6,476 A/G, +6,555 C/T, +6,560 C/T are located in the intron 2, while the +10,440 A/G variant corresponds to a silent mutation in exon 3. The variants -60 C/T and +11,475 C/A which are located at the 5'-UTR and 3-UTR respectively, display allelic frequencies below 1%. No correlation between these variants and the autoimmune diseases investigated could be observed. However, reporter gene expression assay demonstrated that the mutation at the -60 C/T position in homozygosis leads to reduced luciferase activity

  4. 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.

  5. [Foix-Chavany-Marie syndrome: anarthria and severe dyphagia after sequential bilateral infarction of the middle cerebral artery].

    Science.gov (United States)

    Guhra, M; Poppenborg, M; Hagemeister, C

    2008-02-01

    Bilateral lesions of the opercula frontoparietalia are uncommon and cause a symptom cluster including anarthria, severe dysphagia, inability to chew and sometimes facial paresis. At the same time there is an automatic-voluntary dissociation, meaning that the affected muscles are functional within the scope of involuntary movements. This syndrome is known as Foix-Chavany-Marie syndrome (FCMS), (bilateral) anterior operculum syndrome or facio-pharyngo-glosso-masticatory diplegia. We report the case of a patient who suffered from FCMS after having infarctions in the territory of the middle cerebral artery on each side 4 years apart.

  6. 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.

  7. Spontaneous Coronary Artery Dissection in a Male Patient with Takayasu’s Arteritis and Antiphospholipid Antibody Syndrome

    Directory of Open Access Journals (Sweden)

    Demet Menekşe Gerede

    2013-01-01

    Full Text Available We present a case of a 34-year-old male who presented to the emergency ward with fever and abdominal pain. The diagnosis of Takayasu’s arteritis and also antiphospholipid syndrome was made during an imaging workup of deep-vein thrombosis. A spontaneous coronary artery dissection was revealed in coronary CT angiography requested for chest pain and dyspnea. The patient was treated medically and discharged on close followup. The concurrence of spontaneous coronary artery dissection with antiphospholipid syndrome and Takayasu’s arteritis has not been reported in the previous literature. The possibility of a spontaneous coronary artery dissection should be considered in patients presenting with both diseases.

  8. 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

  9. 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.

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

    Science.gov (United States)

    Araujo Neto, Severino Aires; de Mello Júnior, Carlos Fernando; Franca, Henrique Almeida; Duarte, Cláudia Martina Araújo; Borges, Rafael Farias; de Magalhães, Ana Guardiana Ximenes

    2016-01-01

    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. PMID:26929461

  11. 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)

  12. Circulating vascular progenitor cells and central arterial stiffness in polycystic ovary syndrome.

    Directory of Open Access Journals (Sweden)

    Cecile Dessapt-Baradez

    Full Text Available OBJECTIVE: Subjects with Polycystic ovarian syndrome (PCOS are at increased risk of Type 2 diabetes mellitus (T2DM. The mechanism of this enhanced risk is unclear. Circulating vascular progenitor cells (VPC are immature bone marrow derived cells capable of differentiating into mature endothelial cells. VPC number/function and central arterial stiffness predict cardio-metabolic disease in at-risk populations. DESIGN: We studied VPC and arterial stiffness measures in non-obese PCOS subjects as compared to age and body mass index (BMI matched healthy controls in a cross-sectional study. METHODS: Fourteen subjects with PCOS and 12 controls of similar age, BMI (all <30 kg/m(2 and metabolic profile were studied. VPC number and in vitro function were studied by flow cytometry and tube formation assays respectively. Augmentation index (AIx, a measure of central arterial stiffness, and central (aortic blood pressures (BP were measured by applanation tonometry. RESULTS: Subjects with PCOS had a reduced number, mean±SEM, of circulating CD34(+133(+ VPCs (317.5±51.0 vs. 558.3±101.2, p = 0.03 and impaired in vitro tube formation (completed tube area 1.0±0.06 vs. 1.2±0.05×10(6 µm(2 p = 0.02. PCOS subjects had significantly higher AIx (18.4±1.9% vs. 4.9±2.0% and this difference remained significant even after adjustments for age, BMI and smoking (p = 0.003 in multivariate analyses. Central systolic and pulse pressure were higher in PCOS subjects but these differences were not statistically significant after adjustment for age. Brachial systolic and pulse pressures were similar. VPC number/function and arterial stiffness or BP measures were not correlated. CONCLUSIONS: Non-obese PCOS is characterized by a reduced VPC number, impaired VPC function and increased central arterial stiffness. These changes in novel vascular risk markers may explain the enhanced risk of T2DM and CVD in PCOS.

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

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    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

  14. BISOPROLOL AND METFORMIN IN PATIENTS WITH ARTERIAL HYPERTENSION AND METABOLIC SYNDROME

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    V. A. Nevzorova

    2007-01-01

    Full Text Available Aim. To compare efficacy of bisoprolol and bisoprolol+metformin combination in patients with arterial hypertension (AH and metabolic syndrome (MS.Material and methods. 20 patients with AH and MS were involved in the study. They were randomized in 2 groups, 10 patients in each group. Patients of the 1st group received bisoprolol. Patients of the 2nd group received combination of bisoprolol and metformin. Blood pressure (BP, body mass index (BMI, carbohydrate metabolism, lipid profile, microalbuminuria (МАU level was determined before, within and at the end of 24-week treatment.Results. Both treatments resulted in similar reduction in BP. Reduction of BMI and insulin plasma concentration was more significant in patients received combined therapy. Both treatments improved lipid profile and reduced MAU.Conclusion. Bisoprolol has positive effect on pathogenic mechanisms of AH and MS. Metformin additionally improves carbohydrate and lipid metabolism.

  15. 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.

  16. Molecular and functional characterization of Kv 7 channels in penile arteries and corpus cavernosum of healthy and metabolic syndrome rats

    DEFF Research Database (Denmark)

    Jepps, T A; Olesen, S P; Greenwood, I A

    2016-01-01

    and spontaneously hypertensive, heart failure-prone (SHHF) rats - a rat model of human metabolic syndrome. EXPERIMENTAL APPROACH: Quantitative PCR and immunohistochemistry were used to determine the expression of KCNQ isoforms in penile tissue. Isometric tension was measured in intracavernous arterial rings......BACKGROUND AND PURPOSE: KCNQ-encoded voltage-dependent potassium channels (Kv 7) are involved in the regulation of vascular tone. In this study we evaluated the influence of Kv 7 channel activation on smooth muscle relaxation in rat penile arteries and corpus cavernosum from normal...... and corpus cavernosum strips isolated from normal and SHHF rats. KEY RESULTS: Transcripts for KCNQ3, KCNQ4 and KCNQ5 were detected in penile arteries and corpus cavernosum. KCNQ1 was only found in corpus cavernosum. Immunofluorescence signals to Kv 7.4 and Kv 7.5 were found in penile arteries, penile veins...

  17. High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia

    OpenAIRE

    2011-01-01

    Abstract Background: Congenital malformations involving the Mullerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and upper vagina, also termed Mullerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome occurs with an incidence of around 1 in 4,500 female births, and occurs in both isolated and syndromic forms. Previous reports have suggested that a proportion of cases, especially syndromic cases, are caused by variation in c...

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

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    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.

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

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    Roopa DA

    2016-03-01

    Full Text Available 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.

  20. 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

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

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    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.

  2. Hyperuricemia and carotid artery dilatation among young adults without metabolic syndrome

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    Eswar Krishnan

    2012-10-01

    Full Text Available It is not known if hyperuricemia is associated with early vascular changes signifying arteriosclerosis. We performed a cross sectional study of 163 young adults without metabolic syndrome in Allegheny County, PA, USA. Doppler ultrasound was used to measure two metrics of early arteriosclerosis: carotid artery dimensions and aortic pulse wave velocity. Individuals in the highest quartiles of serum uric acid (>6.2 mg/dL for men and >4.6 for women were more likely to be of younger age, and to possess greater measures of adiposity and an adverse cardiovascular risk profile. Higher serum uric acid concentration was associated with larger luminal and adventitial diameters as well as changes in diameters between the phases of the cardiac cycle (P<0.001 but not with carotid intima media thickness, pulse wave velocity, or pressure strain modulus. In multivariable linear regression models where the effects of age, ethnicity, serum creatinine, systolic blood pressure, current alcohol use, body mass index and smoking status were accounted for, the highest quartile of serum uric acid was associated with greater luminal and adventitial diameters and change in luminal diameter between the phases of cardiac cycle (P<0.05, but not with pulse wave velocity, pressure strain modulus or carotid intima media thickness. We can conclude that hyperuricemia is associated with larger carotid artery diameters signifying an early adaptive response to vascular stress. This has implications on the observed link between hyperuricemia and hypertension.

  3. Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

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    Llor Xavier

    2011-01-01

    Full Text Available Abstract Background Lynch syndrome (LS is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS. Methods The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls. Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers. Results Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%, seven were suspected of having hereditary CRC (2.8% and 11 were controls (2.68%. There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both

  4. Expression of Caspase-1 Gene Transcript Variant mRNA in Peripheral Blood Mononuclear Cells of Patients with Primary Gout in Different TCM Syndromes

    Science.gov (United States)

    Dang, Wan-Tai; Xu, Dan; Xie, Wen-Guang; Zhou, Jing-Guo

    2015-01-01

    A large number of studies have shown that cysteinyl aspartate specific protease-1 (CASP1) played an important role in the inflammatory response of primary gout, but the decreased expression of different CASP1 transcript variant could inhibit the activation of IL-1β. Our study mainly analyzed the expression level and function of CASP1 gene transcript variant mRNA in peripheral blood mononuclear cells of patients with gout in different TCM syndromes. The expression of CASP1 gene transcript variant and IL-1β mRNA in PBMCs were detected in patients with PG [acute phase (AP: 44 cases); nonacute phase (NAP: 52 cases)] and healthy controls (HC: 30 cases) by reverse transcription-polymerase chain reaction and/or real-time quantitative polymerase chain reaction. The expressions of plasma IL-1β in patients with PG and HC were detected by enzyme-linked immunosorbent assay. Dysregulated expression of the CASP1 gene and its transcript variant, plasma proinflammatory cytokines in all patients with primary gout in different TCM syndromes, correlation analysis showed that there was negative correlation between the expression of CASP1-gamma gene transcript variant mRNA and IL-1β protein in APPG group. The study suggested that CASP1 gene and its transcript variant may play a critical role in the inflammatory response of patients with PG in different phases and TCM syndromes. PMID:26557856

  5. Expression of Caspase-1 Gene Transcript Variant mRNA in Peripheral Blood Mononuclear Cells of Patients with Primary Gout in Different TCM Syndromes

    Directory of Open Access Journals (Sweden)

    Wan-Tai Dang

    2015-01-01

    Full Text Available A large number of studies have shown that cysteinyl aspartate specific protease-1 (CASP1 played an important role in the inflammatory response of primary gout, but the decreased expression of different CASP1 transcript variant could inhibit the activation of IL-1β. Our study mainly analyzed the expression level and function of CASP1 gene transcript variant mRNA in peripheral blood mononuclear cells of patients with gout in different TCM syndromes. The expression of CASP1 gene transcript variant and IL-1β mRNA in PBMCs were detected in patients with PG [acute phase (AP: 44 cases; nonacute phase (NAP: 52 cases] and healthy controls (HC: 30 cases by reverse transcription-polymerase chain reaction and/or real-time quantitative polymerase chain reaction. The expressions of plasma IL-1β in patients with PG and HC were detected by enzyme-linked immunosorbent assay. Dysregulated expression of the CASP1 gene and its transcript variant, plasma proinflammatory cytokines in all patients with primary gout in different TCM syndromes, correlation analysis showed that there was negative correlation between the expression of CASP1-gamma gene transcript variant mRNA and IL-1β protein in APPG group. The study suggested that CASP1 gene and its transcript variant may play a critical role in the inflammatory response of patients with PG in different phases and TCM syndromes.

  6. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

    Science.gov (United States)

    Döcker, Dennis; Schubach, Max; Menzel, Moritz; Spaich, Christiane; Gabriel, Heinz-Dieter; Zenker, Martin; Bartholdi, Deborah; Biskup, Saskia

    2015-01-01

    Megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth syndrome that is diagnosed by clinical criteria. Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other related megalencephaly syndromes. We performed trio-exome sequencing in a 6-year-old boy and his healthy parents. Clinical features were macrocephaly, cutis marmorata, angiomata, asymmetric overgrowth, developmental delay, discrete midline facial nevus flammeus, toe syndactyly and postaxial polydactyly—thus, clearly an MCAP phenotype. Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 gene (c.1529A>G; p.(Gln510Arg)), which has so far been associated with Noonan, as well as LEOPARD syndrome. Whole-exome sequencing (>100 × coverage) did not reveal any alteration in the known megalencephaly genes. However, ultra-deep sequencing results from saliva (>1000 × coverage) revealed a 22% mosaic variant in PIK3CA (c.2740G>A; p.(Gly914Arg)). To our knowledge, this report is the first description of a PTPN11 germline variant in an MCAP patient. Data from experimental studies show a complex interaction of SHP2 (gene product of PTPN11) and the PI3K-AKT pathway. We hypothesize that certain PTPN11 germline variants might drive toward additional second-hit alterations. PMID:24939587

  7. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?

    Science.gov (United States)

    Döcker, Dennis; Schubach, Max; Menzel, Moritz; Spaich, Christiane; Gabriel, Heinz-Dieter; Zenker, Martin; Bartholdi, Deborah; Biskup, Saskia

    2015-03-01

    Megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth syndrome that is diagnosed by clinical criteria. Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other related megalencephaly syndromes. We performed trio-exome sequencing in a 6-year-old boy and his healthy parents. Clinical features were macrocephaly, cutis marmorata, angiomata, asymmetric overgrowth, developmental delay, discrete midline facial nevus flammeus, toe syndactyly and postaxial polydactyly--thus, clearly an MCAP phenotype. Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 gene (c.1529A>G; p.(Gln510Arg)), which has so far been associated with Noonan, as well as LEOPARD syndrome. Whole-exome sequencing (>100 × coverage) did not reveal any alteration in the known megalencephaly genes. However, ultra-deep sequencing results from saliva (>1000 × coverage) revealed a 22% mosaic variant in PIK3CA (c.2740G>A; p.(Gly914Arg)). To our knowledge, this report is the first description of a PTPN11 germline variant in an MCAP patient. Data from experimental studies show a complex interaction of SHP2 (gene product of PTPN11) and the PI3K-AKT pathway. We hypothesize that certain PTPN11 germline variants might drive toward additional second-hit alterations.

  8. 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.)

  9. Expanded Mutational Spectrum in Cohen Syndrome, Tissue Expression, and Transcript Variants of COH1

    NARCIS (Netherlands)

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

    2009-01-01

    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 analys

  10. 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

    , when exome data from the NHLI GO Exome Sequencing Project (ESP) was published. In this study, we aimed to report the prevalence of previously BrS-associated variants in the ESP population. We performed a search in ESP for variants previously associated with BrS. In addition, four variants in ESP were...... genotyped in a second Danish control population (n = 536) with available electrocardiograms. In ESP, we identified 38 of 355 (10%) variants, distributed on 272 heterozygote carriers and two homozygote carriers. The genes investigated were on average screened in 6258 individuals. This corresponds...... to a surprisingly high genotype prevalence of 1:23 (274:6258). Genotyping the four common ESP-derived variants CACNA2D1 S709N, SCN5A F2004L, CACNB2 S143F, and CACNB2 T450I in the Danish controls, we found a genotype prevalence comparable with that found in ESP. We suggest that exome data are used in research...

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

    Institute of Scientific and Technical Information of China (English)

    Gregory Dendramis; Claudia Paleologo; Davide Piraino; Pasquale Assennato

    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.

  12. Late presentation of superior mesenteric artery syndrome following scoliosis surgery: a case report

    Directory of Open Access Journals (Sweden)

    Tsirikos Athanasios I

    2008-01-01

    Full Text Available Abstract Introduction Obstruction of the third part of the duodenum by the superior mesenteric artery (SMA can occur following surgical correction of scoliosis. The condition most commonly occurs in significantly underweight patients with severe deformities during the first few days to a week following spinal surgery. Case presentation We present the atypical case of a patient with normal body habitus and a 50° adolescent idiopathic thoracolumbar scoliosis who underwent anterior spinal arthrodesis with instrumentation and developed SMA syndrome due to progressive weight loss several weeks postoperatively. The condition manifested with recurrent vomiting, abdominal distension, marked dehydration, and severe electrolyte disorder. Prolonged nasogastric decompression and nasojejunal feeding resulted in resolution of the symptoms with no recurrence at follow-up. The spinal instrumentation was retained and a solid spinal fusion was achieved with good spinal balance in both the coronal and sagittal planes. Conclusion SMA syndrome can occur much later than previously reported and with potentially life-threatening symptoms following scoliosis correction. Early recognition of the condition and institution of appropriate conservative measures is critical to prevent the development of severe complications including the risk of death.

  13. Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality

    DEFF Research Database (Denmark)

    Ghouse, Jonas; Have, Christian T; Skov, Morten W;

    2016-01-01

    PURPOSE: We investigated whether Brugada syndrome (BrS)-associated variants identified in the general population have an effect on J-point elevation as well as whether carriers of BrS variants were more prone to experience syncope and malignant ventricular arrhythmia and had increased mortality....../620; noncarriers 9/5,524; P = 0.24), or overall mortality (hazard ratio 0.93, 95% CI 0.63-1.4). CONCLUSIONS: Our data indicate that a significant number of BrS-associated variants are not the monogenic cause of BrS.Genet Med advance online publication 06 October 2016Genetics in Medicine (2016); doi:10.1038/gim...

  14. 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.

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

    Directory of Open Access Journals (Sweden)

    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

  16. [Clinical picture, differential diagnosis and forensic psychiatric assessment of the delirious variant of the Kandinskiĭ-Clérambault syndrome in patients with schizophrenia].

    Science.gov (United States)

    Kolotilin, G F; Vasil'ev, V D

    1988-01-01

    Using clinico-psychopathological methods of examination the authors studied 93 schizophrenics with a delirious variant of the Kandinsky-Clérambaut syndrome who had committed violent antisocial actions (VAA). It has been ascertained that peculiarities of the clinical course at the time when the VAA was committed reflect the stages of the development of the syndrome: the initial stage, the stage of delirious personification of psychic automatisms and the stage of involution of the delirious variant of the Kandinsky-Clérambaut syndrome. It has been established that the more acute the psychosis the higher the significance in the psychopathological mechanisms of VAA of clinical manifestations of the syndrome and lower the role of social and personality factors.

  17. Circulating YKL-40 Level, but not CHI3L1 Gene Variants, Is Associated with Atherosclerosis-Related Quantitative Traits and the Risk of Peripheral Artery Disease

    Directory of Open Access Journals (Sweden)

    Semon Wu

    2014-12-01

    Full Text Available YKL-40, a pleotropic cytokine, is emerging as a risk factor and a prognostic predictor of atherosclerotic cardiovascular disease. We attempted to elucidate the genetic, clinical and biochemical correlates of circulating YKL-40 level and, by combining it with CHI3L1 gene variants, with the risk and long-term mortality of peripheral artery disease (PAD. Plasma YKL-40 concentrations were measured in 612 Taiwanese individuals who had no clinically overt systemic disease. Clinical parameters, CHI3L1 gene promoter variants and 18 biomarker levels were analyzed. Eighty-six PAD patients were further enrolled for analysis. Significant associations were found between CHI3L1 genotypes/haplotypes and YKL-40 levels for the health examination subjects (smallest p = 8.36 × 10−7 for rs4950928 and smallest p = 1.72 × 10−10 for haplotype TGG and also for PAD patients. For the health examination subjects, circulating YKL-40 level, but not CHI3L1 gene variants, were positively associated with age, smoking, and circulating levels of triglyceride, lipocalin 2 and multiple inflammatory biomarkers and negatively associated with low-density-lipoprotein cholesterol levels. Circulating YKL-40 level is also significantly associated with the risk of PAD (p = 3.3 × 10−23. Circulating YKL40 level, but not CHI3L1 gene promoter variants, is associated with the risk of PAD in Taiwanese. The association of YKL-40 levels with multiple quantitative traits relating to the risk of PAD may provide a molecular basis linking YKL-40 to atherosclerotic cardiovascular disease.

  18. 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.

  19. A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome.

    Science.gov (United States)

    Thakur, Arpita Rai; Naikmasur, Venkatesh G

    2014-04-01

    The clinical classification of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. The current outlook is that the 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and that the 'Robinow-Sorauf' syndrome lies within the spectrum of the Saethre-Chotzen syndrome. We present a case of 19-year-old female patient exhibiting classical clinical and radiological features of Robinow-Sorauf phenotype of Saethre-Chotzen syndrome. A brief review of previously reported cases and nosology has been presented.

  20. Lower limb compartment syndrome by reperfusion injury after treatment of arterial thrombosis post-laparoscopic radical hysterectomy and pelvic lymph node dissection for cervical cancer

    Science.gov (United States)

    Yeon, Jihee; Jung, Ye Won; Yang, Shin Seok; Kang, Byung Hun; Lee, Mina; Ko, Young Bok; Yang, Jung Bo; Lee, Ki Hwan

    2017-01-01

    Compartment syndrome is a clinical condition associated with decreased blood circulation that can lead to swelling of tissue in limited space. Several factors including lithotomy position, prolonged surgery, intermittent pneumatic compressor, and reperfusion after treatment of arterial thrombosis may contribute to compartment syndrome. However, compartment syndrome rarely occurs after gynecologic surgery. In this case, the patient was diagnosed as compartment syndrome due to reperfusion injury after treatment of arterial thrombosis, which occurred after laparoscopic radical hysterectomy and pelvic lymph node dissection for cervical cancer. Despite its rarity, prevention and identifying the risk factors of complication should be performed perioperatively; furthermore, gynecologist should be aware of the possibility of complications. PMID:28344966

  1. 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

    localization and protein-protein interaction with the dimer partner PMS2 and the MMR-associated exonuclease 1. We show that a significant proportion of examined variant proteins have functional defects in either subcellular localization or protein-protein interactions, which is suspected to lead to the cancer...

  2. 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

  3. Onyx embolization of an intraosseous pseudoaneurysm of the middle meningeal artery in a patient with meningiomatosis, McCune-Albright syndrome, and gray platelet syndrome.

    Science.gov (United States)

    Settecase, Fabio; Nicholson, Andrew D; Amans, Matthew R; Higashida, Randall T; Halbach, Van V; Cooke, Daniel L; Dowd, Christopher F; Hetts, Steven W

    2016-03-01

    A 13-year-old boy with meningiomatosis, McCune-Albright syndrome, and gray platelet syndrome presented with an enlarging "lump" on his right forehead. A head CT scan revealed a polyostotic fibrous dysplasia involving the entire skull. A 3.4-cm right frontal osseous cavity and an overlying right forehead subcutaneous soft-tissue mass were seen, measuring 5.2 cm in diameter and 1.6 cm thick. Ultrasound of the cavity and overlying mass showed swirling of blood and an arterialized waveform. MRI revealed an en plaque meningioma underlying the cavity. An intraosseous pseudoaneurysm fed by 3 distal anterior division branches of the right middle meningeal artery (MMA) with contrast extravasation was found on angiography. Two MMA feeders were embolized with Onyx, with anterograde filling of the intraosseous cavity with Onyx. A small pocket of residual intracavity contrast filling postembolization from a smaller third MMA feeder eventually thrombosed and the forehead lump regressed.

  4. Non-atheromatous arterial stenoses in atypical haemolytic uraemic syndrome associated with complement dysregulation

    NARCIS (Netherlands)

    C. Loirat; M.A. Macher; M. Elmaleh-Berges; T. Kwon; G. Deschênes; T.H.J. Goodship; C. Majoie; J.C. Davin; R. Blanc; J. Savatovsky; J. Moret; V. Fremeaux-Bacchi

    2010-01-01

    Results. Stenoses of both carotid arteries, left subclavian and vertebral arteries, several intracranial, right humeral, several coronary, and all pulmonary arteries were demonstrated. At the age of 13 years, left subclavian and right cervical carotid arteries were occluded. Right carotid recanaliza

  5. A functional variant of PTPN22 confers risk for Vogt-Koyanagi-Harada syndrome but not for ankylosing spondylitis.

    Directory of Open Access Journals (Sweden)

    Qi Zhang

    Full Text Available BACKGROUND: Protein tyrosine phosphatase non-receptor 22 (PTPN22 is a key negative regulator of T lymphocytes and has emerged as an important candidate susceptibility factor for a number of immune-related diseases. This study aimed to examine the predisposition of PTPN22 SNPs to Vogt-Koyanagi-Harada (VKH syndrome and acute anterior uveitis (AAU associated with ankylosing spondylitis (AS. METHODS: A total of 1005 VKH syndrome, 302 AAU+AS+ patients and 2010 normal controls among the Chinese Han population were enrolled in the study. Genotyping, PTPN22 expression, cell proliferation, cytokine production and cell activation were examined by PCR-RFLP, Real-time PCR, CCK8, ELISA and Flow cytometry. RESULTS: The results showed significantly increased frequencies of the rs2488457 CC genotype and C allele but a decreased frequency of the GG genotype in VKH syndrome patients (PBonferroni correction (Pc = 3.47×10(-7, OR = 1.54; Pc = 3.83×10(-8, OR = 1.40; Pc = 6.35×10(-4, OR = 0.62; respectively. No significant association of the tested SNPs with AAU+AS+ patients was observed. Functional studies showed a decreased PTPN22 expression, impaired cell proliferation and lower production of IL-10 in rs2488457 CC cases compared to GG cases (Pc = 0.009, Pc = 0.015 and Pc = 0.048 respectively. No significant association was observed concerning T cell activation and rs2488457 genotype. CONCLUSIONS: The study showed that a functional variant of PTPN22 confers risk for VKH syndrome but not for AAU+AS+ in a Chinese Han population, which may be due to a modulation of the PTPN22 expression, PBMC proliferation and IL-10 production.

  6. [Myocardial infarction by spontaneous dissection of coronary arteries in a subject with type IV Ehlers-Danlos syndrome].

    Science.gov (United States)

    Catanese, V; Venot, P; Lemesle, F; Delille, F; Runge, I; Kuchly, B

    1995-10-07

    Acute myocardial infarction with spontaneous coronary dissection was fatal in a 33-years-old man. Autopsy and family history revealed type IV Ehlers-Danlos syndrome. In this disease, conjunctive tissue is fragilized due to a deficit in type III collagen which leads to spontaneous ruptures in large and medium sized arteries. The present case is the first with a proven rupture of the coronary arteries. This disease should be entertained in young people with no atherogenous risk factor and an acute coronary disorder since peripheral skin and joint syndromes may be discreet or missing. Treatment is difficult in case of spontaneous coronary dissection. Thrombolysis is not possible and diagnosis may require angiography which is in itself dangerous due to the fragility of the coronary vessels.

  7. 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

  8. Left Ventricular Mass index and Pulmonary Artery Pressure in Patients with the Obstructive Sleep Apnea Syndrome

    Directory of Open Access Journals (Sweden)

    Seyed Hashem Sezavar

    2016-07-01

    Full Text Available Background: Sleep apnea is accompanied by some cardiovascular complications. It has even been hypothesized that sleep apnea, itself, can induce some of these complications. Given such controversies, we assessed the left ventricular mass index (LVMI and systolic pulmonary artery pressure in patients with sleep apnea.Methods: Through convenience sampling, 56 patients with the obstructive sleep apnea syndrome (OSAS were included in the present descriptive cross-sectional study. Patients with any past history of hypertension and diabetes mellitus were excluded. The apnea severity was assessed via the polysomnography-derived apnea-hypopnea index (AHI. All the patients underwent transthoracic echocardiography. In this cross-sectional study - data regarding age, gender, smoking, systolic and diastolic blood pressures, polysomnographic parameters (AHI, severity of disease, mean heart rate, mean oxygen saturation [SaO2], lowest SaO2, and duration of SaO2 below 90% [d.SaO2 < 90%], and  echocardiographic parameters (systolic pulmonary artery pressure and LVMI were accumulated and processed.Results: Fifty-two men and 14 women at a mean age of 49.29 ± 11.79 years participated in this study. Systolic and was significantly high in the severe group compared with the mild group (128.21 ± 9.73 mmHg vs. 119.23 ± 12.5 mmHg; p value = 0.007. The LVMI was increased parallel to an increase in the severity of the OSAS, but that increase was not statistically significant (p value = 0.161. The d.SaO2 < 90% was positively correlated with the LVMI, and this relationship remained true after adjustment for the body mass index (r = 0.27; p value = 0.042.Conclusion: Severe OSAS was accompanied by a higher blood pressure. The LVMI did not differ significantly between the patients with the OSAS and those who did not suffer from other risk factors of cardiac diseases.

  9. 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 < 0.05), coupled with increased reactive oxygen species production, TGF-β, and Nox4 expression. However, wall stiffness and myogenic autoregulation did not change. To investigate the influence of Nox4 on cerebrovascular properties, we generated 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.

  10. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    DEFF Research Database (Denmark)

    Schönewolf-Greulich, B; Tejada, M-I; Stephens, K;

    2016-01-01

    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-pai...

  11. A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome

    OpenAIRE

    2014-01-01

    The clinical classification of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. The current outlook is that the ‘Robinow-Sorauf’ families are examples of variable expression of the TWIST mutant phenotype and that the ‘Robinow-Sorauf’ syndrome lies within the spectrum of the Saethre-Chotzen syndrome. We present a case of 19-year-old female p...

  12. [Analysis of the state of coronary arteries in patients with acute coronary syndrome in dependence on the integrin (1-3 gene polymorphism].

    Science.gov (United States)

    Zotova, T Iu; Frolov, V A; Zotov, A K; Miandina, G I; Komarova, A G

    2014-01-01

    Aim of this study was to analyze the state of coronary arteries in patients with acute coronary syndrome according to polymorphism of integrin β-3 (ITGB3) gene. All patients were divided into 2 groups: carries and non-carries of PLA2 allele. Carriers of PLA2 allele compared with noncarriers had lesser grades of coronary artery stenoses but greater number of involved arteries. Carriers had more repetitive acute coronary events.

  13. 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

    2016-01-01

    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...

  14. 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.

  15. Clinical characteristics of basilar artery syndrome%基底动脉尖综合征的临床特点

    Institute of Scientific and Technical Information of China (English)

    成亚琴

    2013-01-01

    Objective To investigate the clinical manifestations and imaging characteristics of the basilar artery syndrome. Methods A retrospective analysis of 32 cases with acute basilar artery syndrome was made. Results The patients were all acute onset with dizziness and vomiting in 12 cases,blurred vision in 3 cases, slurred speech in 14 cases, disturbance of consciousness in 16 cases, lmb paralysis in 14 case, unsteady gait in 5 cases, and headache and vomiting in 1 case. Multiple lesions were seen on the cerebral imagings in all patients. Conclusion The clinical manifestations of the basilar artery syndrome are veriable and complex with mild paralysis. MRI is helpful in the early diagnosis of the basilar artery syndrome.%目的 探讨基底动脉尖综合征的临床表现及影像学特点.方法 回顾性分析32例急性基底动脉尖综合征患者的临床资料.结果 32例患者均为急性起病,临床表现为眩晕、呕吐12例,视物不清3例,言语不清14例,意识障碍16例,肢体瘫痪14例,行走不稳5例,起病时仅感头痛、呕吐1例.所有患者头颅影像学检查均发现多发性病灶.结论 基底动脉尖综合征临床表现复杂多样,瘫痪程度较轻,MRI成像有助于早期确诊.

  16. 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.

  17. Serotonin gene variants are unlikely to play a significant role in the pathogenesis of the sudden infant death syndrome.

    Science.gov (United States)

    Paterson, David S

    2013-11-01

    Sudden infant death syndrome (SIDS) is defined as the sudden and unexpected death of an infant less than 12 months of age that is related to a sleep period and remains unexplained after a complete autopsy, death scene investigation, and review of the clinical history. The cause of SIDS is unknown, but a major subset of SIDS is proposed to result from abnormalities in serotonin (5-HT) and related neurotransmitters in regions of the lower brainstem that result in failure of protective homeostatic responses to life-threatening challenges during sleep. Multiple studies have implicated gene variants that affect different elements of 5-HT neurotransmission in the pathogenesis of these abnormalities in SIDS. In this review I discuss the data from these studies together with some new data correlating genotype with brainstem 5-HT neurochemistry in the same SIDS cases and conclude that these gene variants are unlikely to play a major role in the pathogenesis of the medullary 5-HT abnormalities observed in SIDS.

  18. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

    Directory of Open Access Journals (Sweden)

    Yi Lu

    2010-05-01

    Full Text Available Central corneal thickness (CCT, one of the most highly heritable human traits (h(2 typically>0.9, is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide association studies in five cohorts from Australia and the United Kingdom (total N = 5058. Three cohorts were based on individually genotyped twin collections, with the remaining two cohorts genotyped on pooled samples from singletons with extreme trait values. The pooled sample findings were validated by individual genotyping the pooled samples together with additional samples also within extreme quantiles. We describe methods for efficient combined analysis of the results from these different study designs. We have identified and replicated quantitative trait loci on chromosomes 13 and 16 for association with CCT. The locus on chromosome 13 (nearest gene FOXO1 had an overall meta-analysis p-value for all the individually genotyped samples of 4.6x10(-10. The locus on chromosome 16 was associated with CCT with p = 8.95x10(-11. The nearest gene to the associated chromosome 16 SNPs was ZNF469, a locus recently implicated in Brittle Cornea Syndrome (BCS, a very rare disorder characterized by abnormal thin corneas. Our findings suggest that in addition to rare variants in ZNF469 underlying CCT variation in BCS patients, more common variants near this gene may contribute to CCT variation in the general population.

  19. Hypophosphatemia and neurological changes secondary to oral caloric intake: a variant of hyperalimentation syndrome.

    Science.gov (United States)

    Silvis, S E; DiBartolomeo, A G; Aaker, H M

    1980-03-01

    Previous reports have described a syndrome of paresthesias, weakness, seizures and hypophosphatemia in patients and animals receiving intravenous hyperalimentation. In this report we describe a group of five patients who developed this syndrome while on oral caloric intake and three patients who received only modest amounts of hyperalimentation therapy. As an experimental corollary, studies were performed in starved and normal dogs with calories infused via an intragastric catheter. The serum inorganic phosphorus (Pi) fell slightly in normal animals from 4.8-2.5 mg. %. In the starved dogs with diarrhea or vomiting the Pi fell gradually from 4.8-1.6. In starved dogs without gastrointestinal symptoms the Pi fell precipitously from 3.7-1.4 mg % on the first day of infusion and remained at that level. Approximately 50% of the starved animals developed the neurological syndrome; none of the normal animals had neurological symptoms.

  20. Thoracic outlet syndrome--a myofascial variant: Part 3. Structural and postural considerations.

    Science.gov (United States)

    Sucher, B M; Heath, D M

    1993-03-01

    Thoracic outlet syndrome involves more than just local neurovascular compression. Myofascial release treatments and stretching exercises may be only partially or temporarily successful unless all related components of somatic dysfunction, including craniosacral mechanisms, are addressed. Structural and postural abnormalities in the frontal plane, as with a short leg, and in the sagittal plane, such as lumbopelvic imbalances, as well as neural involvement all contribute to thoracic outlet syndrome symptoms. Once segmental restrictions are treated and symptoms diminish, postural correction and strengthening exercises may be initiated. Osteopathic diagnosis and treatment of the local, regional, and remote structural problems is necessary for optimal treatment of thoracic outlet syndrome and the maintenance of a symptom-free status.

  1. Positive association between increased popliteal artery vessel wall thickness and generalized osteoarthritis: is OA also part of the metabolic syndrome?

    Energy Technology Data Exchange (ETDEWEB)

    Kornaat, Peter R.; Sharma, Ruby; Geest, Rob J. van der; Lamb, Hildo J.; Bloem, Johan L.; Watt, Iain [Leiden University Medical Center, Department of Radiology, Leiden (Netherlands); Kloppenburg, Margreet [Leiden University Medical Center, Department of Rheumatology, Leiden (Netherlands); Hellio le Graverand, Marie-Pierre [Pfizer Global Research and Development, New London, CT (United States)

    2009-12-15

    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 {alpha} = 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 {<=} {alpha}), 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.)

  2. Inflammation markers are associated with metabolic syndrome and ventricular arrhythmia in patients with coronary artery disease

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    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.

  3. Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

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    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.

  4. Intercostal variant of lumbar hernia in lumbocostovertebral syndrome: our experience with 6 cases.

    Science.gov (United States)

    Sengar, Mamta; Manchanda, Vivek; Mohta, Anup; Jain, Vishesh; Das, Swarup

    2011-10-01

    Lumbocostovertebral syndrome (LCVS) is a rare type of congenital lumbar hernia. Its features include lumbar hernia associated with genitourinary, vertebral, and rib anomalies. Less than 25 cases have been reported to date. We describe the clinical manifestations and associated anomalies in 6 cases of LCVS managed by us. The patients with suspected LCVS syndrome should be evaluated by detailed clinical history, examination, conventional radiography, magnetic resonance imaging spine, ultrasound abdomen, and echocardiography. The defect can be repaired using local tissues in infancy. There is a need for long-term follow-up for possible late recurrence and scoliosis.

  5. Segmental anhidrosis with hyporeflexia associated with congenital spinal deformity: A Ross's syndrome variant or inverse Horner's syndrome?

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    Sawhney M

    2004-01-01

    Full Text Available A 39-year-old soldier presented with anhidrosis affecting both upper extremities below the shoulders, the right side of the trunk below the third rib in front and the third vertebra on the back, and the left lower extremity below the inguinal ligament since 1992. Ten years later in 2002, he was also found to have bilateral absence of Achilles reflex and decreased right knee jerk. In addition, the patient was found to have congenital spinal abnormalities in the form of block of vertebrae C3-C4; decreased disc space C4-C5; and break in pars interarticularis L5-S1 with decreased disc space. A total of seven cases of Ross syndrome, Holmes-Adie syndrome (tonic pupil with lost tendon jerks with segmental anhidrosis, have been described in the literature. Our case, however, did not have any pupillary abnormality. A case of progressive isolated segmental anhidrosis has also been described. The association of congenital spinal abnormality, which may be pathognomonic in the causation of this progressive sudomotor degeneration, is quite interesting in our case. The distribution of anhidrosis on the right side is just below the level of sweating loss sometimes described in lesions of superior sympathetic cervical ganglion in Horner's syndrome.

  6. Promoter variants in interleukin-6 and tumor necrosis factor alpha and risk of coronary artery disease in a population from Western India

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    Aparna A Bhanushali

    2013-01-01

    Full Text Available Introduction: A central component of the atherosclerotic process is inflammation. Single nucleotide polymorphisms (SNPs present in the promoter region of various cytokines can lead to altered levels of the transcript and a state of low-grade inflammation exacerbating the risk of coronary artery disease (CAD. The present work tries to understand the role of permissive promoter variants in the interleukin-6 gene (IL-6-174G/C and the tumor necrosis factor alpha (TNFα-308G/A in the causation of CAD and also dyslipidemia. Materials and Methods: Genotyping was conducted on 100 cases of CAD and 150 controls by the allele termination assay SNaPshot. Biochemical parameters were determined by routine enzymatic endpoint methods. The results were analyzed by appropriate statistical methods. Results: No differences in the minor allele frequency IL-6-174G/C SNP were seen between cases and controls (0.13 vs. 0.12. The differences in the allele frequency of TNFα-308A between cases (6% and controls (2% have led to an odds ratio, 3.370; 95% confidence interval, 1.039-11.543; P=0.033 in the univariate analysis. In the final logistic regression analysis, however none of the variants were associated with an increased risk of CAD. Conclusions: In summary, no association of the permissive promoter variants in the IL-6 gene and the TNFα gene were seen with an increased CAD risk. These and other studies highlight the importance of doing population specific studies.

  7. Genetic variants in lipid metabolism are independently associated with multiple features of the metabolic syndrome

    NARCIS (Netherlands)

    Povel, C.M.; Boer, J.M.; Imholz, S.; Dolle, M.E.; Feskens, E.J.M.

    2011-01-01

    Background Our objective was to find single nucleotide polymorphisms (SNPs), within transcriptional pathways of glucose and lipid metabolism, which are related to multiple features of the metabolic syndrome (MetS). Methods 373 SNPs were measured in 3575 subjects of the Doetinchem cohort. Prevalence

  8. Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhauser syndrome and central corneal thickness.

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    Alice E Davidson

    Full Text Available We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1. Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glaucoma (PCG. Megalocornea is also a feature of Neuhäuser or megalocornea-mental retardation (MMR syndrome, a rare condition of unknown etiology. In a male patient diagnosed with MMR, we performed targeted and whole exome sequencing (WES and identified a novel missense mutation in CHRDL1 that accounts for his MGC1 phenotype but not his non-ocular features. This finding suggests that MMR syndrome, in some cases, may be di- or multigenic. MGC1 patients have reduced central corneal thickness (CCT; however no X-linked loci have been associated with CCT, possibly because the majority of genome-wide association studies (GWAS overlook the X-chromosome. We therefore explored whether variants on the X-chromosome are associated with CCT. We found rs149956316, in intron 6 of CHRDL1, to be the most significantly associated single nucleotide polymorphism (SNP (p = 6.81×10(-6 on the X-chromosome. However, this association was not replicated in a smaller subset of whole genome sequenced samples. This study highlights the importance of including X-chromosome SNP data in GWAS to identify potential loci associated with quantitative traits or disease risk.

  9. Biliary Cast Syndrome: Hepatic Artery Resistance Index, Pathological Changes, Morphology and Endoscopic Therapy

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    Hu Tian

    2015-01-01

    Full Text Available Background: Biliary cast syndrome (BCS was a postoperative complication of orthotopic liver transplantation (OLT, and the reason for BSC was considered to relate with ischemic type biliary lesions. This study aimed to evaluate the relationship between BCS following OLT and the hepatic artery resistance index (HARI, and to observe pathological changes and morphology of biliary casts. Methods: Totally, 18 patients were diagnosed with BCS by cholangiography following OLT using choledochoscope or endoscopic retrograde cholangiopancreatography. In addition, 36 patients who did not present with BCS in the corresponding period had detectable postoperative HARI on weeks 1, 2, 3 shown by color Doppler flow imaging. The compositions of biliary casts were analyzed by pathological examination and scanning electron microscopy. Results: HARI values of the BCS group were significantly decreased as compared with the non-BCS group on postoperative weeks 2 and 3 (P 1 (OR = 1.300; 1.223; and 1.889, respectively. The OR of HARI 3 was statistically significant (OR = 1.889; 95% confidence interval = 1.166-7.490; P = 0.024. The compositions of biliary casts were different when bile duct stones were present. Furthermore, vascular epithelial cells were found by pathological examination in biliary casts. Conclusions: HARI may possibly serve as an independent risk factor and early predictive factor of BCS. Components and formation of biliary casts and bile duct stones are different.

  10. 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.

  11. Acute-onset of superior mesenteric artery syndrome following surgical correction of scoliosis: Case report and review of literature

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    Christian Ovalle-Chao

    2017-04-01

    Full Text Available Superior mesenteric artery (SMA syndrome is a rare condition caused by compression of the third portion of duodenum by the angle between the superior mesenteric artery against the aorta. A rare presentation of SMA syndrome is following scoliosis repair and spinal fusion with a low incidence and most of these patients present with symptoms within one to two weeks or even more after the surgical repair. A high suspicion index after surgical correction of scoliosis with well-known risk factors (low BMI, low percentile of weight for height, and a high degree of change in the Cobb's angles can anticipate the postoperative diagnosis. Management has been described for postsurgical scoliosis repair with a late onset presentation of SMA syndrome with nutritional support with good success rates, but there is no data for best treatment management for acute onset especially when the surgical correction of the spine causes complete duodenal obstruction and a surgical intervention might be warranted. Here in, we present a 14 year-old boy with an acute 24-h postoperative SMA syndrome following surgical correction of scoliosis.

  12. Acute Respiratory Distress Syndrome diagnosis after coronary artery bypass: comparison between diagnostic criteria and clinical picture.

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    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

  13. 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

  14. Idiopathic gingival fibromatosis associated with progressive hearing loss: A nonfamilial variant of Jones syndrome

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    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.

  15. The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA study.

    Directory of Open Access Journals (Sweden)

    Teresa Villarreal-Molina

    Full Text Available BACKGROUND: ABCA1 genetic variation is known to play a role in HDL-C levels and various studies have also implicated ABCA1 variation in cardiovascular risk. The functional ABCA1/R230C variant is frequent in the Mexican population and has been consistently associated with low HDL-C concentrations. Although it has been associated with other cardiovascular risk factors such as obesity and type 2 diabetes mellitus, it is not known whether it is associated with coronary artery disease (CAD. AIM: The purpose of the study was to analyze whether the ABCA1/R230C variant is associated with premature CAD in a case-control association study (GEA or Genetics of Atherosclerotic Disease, and to explore whether BMI modulates the effect of the C230 allele on other metabolic traits using a population-based design. RESULTS: The C230 allele was significantly associated with both lower HDL-C levels and a lower risk of premature CAD as compared to controls (OR = 0.566; P(add = 1.499×10(-5. In addition, BMI modulated the effect of R230C on body fat distribution, as the correlation between BMI and visceral to subcutaneous adipose tissue (a metric of the propensity to store fat viscerally as compared to subcutaneously was negative in RR homozygous individuals, but positive in premenopausal women bearing the C230 allele, with a statistically significant interaction (P = 0.005. BMI-R230C interaction was also significant for triglyceride levels in women regardless of their menopausal status (P = 0.036. CONCLUSION: This is the first study assessing the effect of the R230C/ABCA1 variant in remature CAD. C230 was associated with both decreased HDL-C levels and a lower risk of premature CAD, and gender-specific BMI-R230C interactions were observed for different metabolic traits. These interactions may help explain inconsistencies in associations, and underscore the need to further analyze interactions of this functional and frequent variant with diet, exercise

  16. The ABCA1 Gene R230C Variant Is Associated with Decreased Risk of Premature Coronary Artery Disease: The Genetics of Atherosclerotic Disease (GEA) Study

    Science.gov (United States)

    Villarreal-Molina, Teresa; Posadas-Romero, Carlos; Romero-Hidalgo, Sandra; Antúnez-Argüelles, Erika; Bautista-Grande, Araceli; Vargas-Alarcón, Gilberto; Kimura-Hayama, Eric; Canizales-Quinteros, Samuel; Juárez-Rojas, Juan Gabriel; Posadas-Sánchez, Rosalinda; Cardoso-Saldaña, Guillermo; Medina-Urrutia, Aída; González-Salazar, María del Carmen; Martínez-Alvarado, Rocío; Jorge-Galarza, Esteban; Carnevale, Alessandra

    2012-01-01

    Background ABCA1 genetic variation is known to play a role in HDL-C levels and various studies have also implicated ABCA1 variation in cardiovascular risk. The functional ABCA1/R230C variant is frequent in the Mexican population and has been consistently associated with low HDL-C concentrations. Although it has been associated with other cardiovascular risk factors such as obesity and type 2 diabetes mellitus, it is not known whether it is associated with coronary artery disease (CAD). Aim The purpose of the study was to analyze whether the ABCA1/R230C variant is associated with premature CAD in a case-control association study (GEA or Genetics of Atherosclerotic Disease), and to explore whether BMI modulates the effect of the C230 allele on other metabolic traits using a population-based design. Results The C230 allele was significantly associated with both lower HDL-C levels and a lower risk of premature CAD as compared to controls (OR = 0.566; Padd = 1.499×10−5). In addition, BMI modulated the effect of R230C on body fat distribution, as the correlation between BMI and visceral to subcutaneous adipose tissue (a metric of the propensity to store fat viscerally as compared to subcutaneously) was negative in RR homozygous individuals, but positive in premenopausal women bearing the C230 allele, with a statistically significant interaction (P = 0.005). BMI-R230C interaction was also significant for triglyceride levels in women regardless of their menopausal status (P = 0.036). Conclusion This is the first study assessing the effect of the R230C/ABCA1 variant in remature CAD. C230 was associated with both decreased HDL-C levels and a lower risk of premature CAD, and gender-specific BMI-R230C interactions were observed for different metabolic traits. These interactions may help explain inconsistencies in associations, and underscore the need to further analyze interactions of this functional and frequent variant with diet, exercise and other

  17. 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...... identified VUS before predictive gene testing and genetic counseling are offered to a family.......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 LS...... 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...

  18. 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.

  19. Metabolic syndrome and coronary artery calcification:a community-based natural population study

    Institute of Scientific and Technical Information of China (English)

    CAO Hui-li; CHEN Xiong-biao; LU Jin-guo; HOU Zhi-hui; FANG Xiang; GAO Yang; YU Fang-fang

    2013-01-01

    Background Little is known about the influence of metabolic syndrome (MetS) on coronary artery calcification (CAC) in China.In this article,we aimed to explore the distribution of CAC in populations with and without MetS,and estimate the influence of MetS and its components on CAC in a community-based population of Beijing.Methods A total of 1647 local residents of Beijing,age 40-77 years,were recruited for a cardiovascular risk factors survey and were determined fasting plasma glucose (FPG),blood lipids,and 64 multi-detector computed tomography (64-MDCT)coronary artery calcium score (CACS) measurement (Agatston scoring).The distribution of CAC was described,and the influence of MetS components on CAC was evaluated.Results In this population,the prevalence and extent of CAC increased with increasing age and both were higher in MetS subjects compared to nonMetS subjects (all P <0.05),with the exception of those older than 65 years old.The risk of CAC increased with increasing numbers of MetS components,and the odds ratios for predicting positive CAC in subjects with 1,2,3,and->4 MetS components were 1.60,1.84,2.12,and 3.12,respectively (all P <0.05).Elevated blood pressure,elevated FPG,elevated triglycerides,and overweight increased the risk of CAC,yielding odds ratios of 2.64,1.67,1.32,and 1.37,respectively (all P <0.05).Conclusions In the Beijing community-based population,MetS increases the risk of CAC.The risk of CAC increases with increasing numbers of MetS components.Not only the number,but also the variety of risk factors for MetS is correlated with the risk of CAC.Elevated blood pressure,hyperglycemia,hypertriglyceridemia and overweight increase the risk of CAC.

  20. Mesalamine hypersensitivity and Kounis syndrome in a pediatric ulcerative colitis patient

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    5-aminosalicylic acid (mesalamine) rarely induces hyper-sensitivity reactions. If chest pain associated with atypical electrocardiographic changes are seen during its adminis-tration, one should always bear in mind type I variant of Kounis syndrome. This variant includes patients, of any age, with normal coronary arteries, without predisposing factors for coronary artery disease, in whom the acute release of inflammatory mediators from mast cells can induce either sudden coronary artery narrowing, without increase of cardiac enzymes and troponins, or coronary artery spasm that progresses to acute myocardial infarc-tion, with elevated cardiac enzymes and troponins.

  1. Ecstacy-induced delayed rhabdomyolysis and neuroleptic malignant syndrome in a patient with a novel variant in the ryanodine receptor type 1 gene.

    Science.gov (United States)

    Russell, T; Riazi, S; Kraeva, N; Steel, A C; Hawryluck, L A

    2012-09-01

    We present the case of a 20-year-old woman who developed rhabdomyolysis, disseminated intravascular coagulopathy and multi-organ failure induced by ecstasy. Following initial improvement, she developed delayed rhabdomyolysis then haloperidol-induced neuroleptic malignant syndrome, which was treated with a total of 50 mg.kg(-1) dantrolene. Subsequent genetic testing revealed a novel potentially pathogenic variant in the ryanodine receptor type 1 gene. However, caffeine-halothane contracture testing of the patient's mother who carried the same gene variant was negative for malignant hyperthermia.

  2. A new clinical variant of the post-malaria neurological syndrome.

    Science.gov (United States)

    Pace, Adrian A; Edwards, Simon; Weatherby, Stuart

    2013-11-15

    Post-malaria neurological syndrome (PMNS) is an uncommon, monophasic illness that occurs within two months following recovery from Plasmodium falciparum (Pf) malaria. Clinical manifestations of PMNS are variable, but published cases uniformly feature neurological and/or psychiatric symptoms without long tract signs. We describe a case of severe brainstem and spinal cord inflammation with paraplegia and sphincter involvement in a 48 year old woman following recovery from a Pf malarial illness. We propose that this case represents a previously unreported form of PMNS, which has features that distinguish it from acute disseminated encephalomyelitis, and that the recognised clinical spectrum of PMNS should be extended to include brainstem and spinal cord inflammation.

  3. Adult onset segmental cavernous hemangioma, varicose veins and limb atrophy (klippel-trenaunay-Weber syndrome variant

    Directory of Open Access Journals (Sweden)

    Sawhney MPS

    1990-01-01

    Full Text Available A 22 year-old woman presented with multiple soft, compressible, protuberant, bluish cutaneous lesions as well as firm, non-compressible, subcutaneous masses and varicose veins affecting the right upper limb of three years duration. There was atrophy of soft tissue of forearm by 2.5 cm. X-ray showed soft tissue densities, multiple phleboliths and hypoplastic forearm bones. Histopathological examination from cutaneous lesions revealed cavernous hemangioma. Adult onset cavernous hemangioma involving one upper limb and breast with multiple phleboliths and limb atrophy is a very unusual presentation of Klippel-Trenaunay-Weber syndrome.

  4. Association of common variants in JAK2 gene with reduced risk of metabolic syndrome and related disorders

    Directory of Open Access Journals (Sweden)

    Penas-Steinhardt Alberto

    2011-12-01

    Full Text Available Abstract Background Disturbances in leptin and insulin signaling pathways are related to obesity and metabolic syndrome (MS with increased risk of diabetes and cardiovascular disease. Janus kinase 2 (JAK2 is a tyrosine kinase involved in the activation of mechanisms that mediate leptin and insulin actions. We conducted a population cross-sectional study to explore the association between two common variants in JAK2 gene and MS related traits in 724 Argentinean healthy male subjects. Methods A total of 724 unrelated men aged 37.11 ± 10.91 yr were included in a cross-sectional study. Physical examination, anthropometric measurements and biochemical analysis were determined by a standardized protocol. rs7849191 and rs3780378 were genotyped. Analyses were done separately for each SNP and followed up by haplotype analysis. Results rs7849191 and rs3780378 were both associated with reduced risk of MS [p = 0.005; OR (95%CI = 0.52 (0.33-0.80 and p = 0.006; OR (95% CI = 0.59 (0.40-0.86 respectively, assuming a dominant model]. rs3780378 T allele was associated with triglyceridemia values under 150 mg/dl [p = 0.007; OR (95%CI = 0.610 (0.429-0.868] and TT carriers showed lower triglycerides (p = 0.017, triglycerides/HDL-C ratio (p = 0.022 and lipid accumulation product (p = 0.007 compared to allele C carriers. The two-SNPs-haplotype analysis was consistent with single locus analysis. Conclusions It was found for the first time, significant associations of JAK2 common variants and related haplotypes with reduced risk of MS. These findings could be explained by the role of JAK2 in insulin and/or leptin signaling.

  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. Association of lower urinary tract syndrome with peripheral arterial occlusive disease

    Science.gov (United States)

    Lin, Wei-Yu; Andersson, Karl-Erik; Lin, Cheng-Li; Kao, Chia-Hung; Wu, Hsi-Chin

    2017-01-01

    Purpose To describe atherosclerosis may lead to chronic bladder ischemia, eventually resulting in lower urinary tract syndrome (LUTS), and peripheral arterial occlusive disease (PAOD). We investigated the association of LUTS with PAOD. Methods This nationwide population-based cohort study was based on data from the Taiwan National Health Insurance Database from 2000 to 2010; follow-up lasted until the end of 2011. We identified patients with newly diagnosed LUTS by using International Classification of Diseases, Ninth Revision, Clinical Modification codes. Results In total, 36,042 and 36,042 patients were enrolled in LUTS and non-LUTS cohorts, respectively. After adjustment for age, sex, and comorbidities, the risk of subsequent PAOD was 1.36-fold higher [95% confidence interval (CI) = 1.26–1.46] in the LUTS cohort than in the non-LUTS cohort. The adjusted risk of PAOD was the highest in patients with LUTS without any comorbidity [adjusted hazard ratio (aHR) = 1.93, 95% CI = 1.54–2.41]. The age-specific relative risk of PAOD was significantly higher in all age groups, particularly in those aged <49 years (aHR = 1.80, 95% CI = 1.39–2.34], in the LUTS cohort than in the non-LUTS cohort. Conclusion LUTS is a risk factor for PAOD. Physicians should consider the possibility of underlying PAOD in patients with LUTS aged <49 years and without cardiovascular comorbidities. Additional studies developing strategies for decreasing the risk of PAOD are warranted. PMID:28301517

  7. Rare variant of misme syndrome – a case report with review of literature

    Directory of Open Access Journals (Sweden)

    Dwivedi Ashish Kumar

    2016-09-01

    Full Text Available MISME syndrome, also known as neurofibromatosis type-2 (NF2, stands for multiple inherited schwannomas, meningiomas, and ependymomas (MISME in the peripheral and central nervous system. It is a rare disorder of autosomal dominant inheritance due to mutations of a tumor-suppressor gene on the chromosome 22q12. Clinically, it is characterized by multiple benign tumors arising in both the central and the peripheral nervous system, particularly from the bilateral vestibular nerve in more than 90% of the patients and more than two thirds of them develop spinal tumors. Simultaneous occurrence of bilateral vestibular schwanoma with cervical and lumbar ependymoma without neuro cutaneous marker with weakness of limb as initial presentation is rare finding in single patient. Here, we are reporting a rare case of MISME syndrome harbouring bilateral vestibular schwanoma with cervical and lumbar ependymoma tumors in a 45 year old male patient having no other lesion and neurocutaneous marker with weakness of limb as initial presentation without posterior subcapsular cataract.

  8. 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.

  9. Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.

    Science.gov (United States)

    Qiao, Ying; Mondal, Kajari; Trapani, Valentina; Wen, Jiadi; Carpenter, Gillian; Wildin, Robert; Price, E Magda; Gibbons, Richard J; Eichmeyer, Jennifer; Jiang, Ruby; DuPont, Barbara; Martell, Sally; Lewis, Suzanne M E; Robinson, Wendy P; O'Driscoll, Mark; Wolf, Federica I; Zwick, Michael E; Rajcan-Separovic, Evica

    2014-01-01

    A 0.8 kb intronic duplication in MAGT1 and a single base pair deletion in the last exon of ATRX were identified using a chromosome X-specific microarray and exome sequencing in a family with five males demonstrating intellectual disability (ID) and unusual skin findings (e.g., generalized pruritus). MAGT1 is an Mg²⁺ transporter previously associated with primary immunodeficiency and ID, whereas mutations in ATRX cause ATRX-ID syndrome. In patient cells, the function of ATRX was demonstrated to be abnormal based on altered RNA/protein expression, hypomethylation of rDNA, and abnormal cytokinesis. Dysfunction of MAGT1 was reflected in reduced RNA/protein expression and Mg²⁺ influx. The mutation in ATRX most likely explains the ID, whereas MAGT1 disruption could be linked to abnormal skin findings, as normal magnesium homeostasis is necessary for skin health. This work supports observations that multiple mutations collectively contribute to the phenotypic variability of syndromic ID, and emphasizes the importance of correlating clinical phenotype with genomic and cell function analyses.

  10. The role of MSCT angiography in early detection of lower limb arterial lesions in patients with antiphospholipid syndrome.

    Science.gov (United States)

    Saponjski, Jovica; Stojanovich, Ljudmila; Petrovic, Jelena; Saponjski, Dusan

    2017-01-25

    Antiphospholipid syndrome (APS) is an autoimmune disease which is characterized by arterial and venous thromboses, fetal loss, and the presence of antiphospholipid antibodies in the serum. It is characterized by accelerated atherosclerosis. Increased tendency towards thrombosis leads to the occurrence of various vascular events. The objective of our study was to determine if there are subclinical changes on lower limb arteries in APS patients and what the best diagnostic choice for their establishment is. In this study, we analyzed 50 patients with primary antiphospholipid syndrome (PAPS) and 50 patients, who have secondary antiphospholipid syndrome (SAPS). The results were compared to 50 controls. The groups were comparable with respect to age, gender, and traditional risk factors except for the lipid status, since controls had significantly higher levels of cholesterol and triglycerides. Study was conducted on 64-multi-slice computed tomography (64-MSCT), where we analyzed quantitative and morphological characteristics of blood vessel-detected lesions. Patients from the control group had statistically very significant elevated cholesterol and triglyceride levels in regard to the patients with SAPS and PAPS (p tissue (n = 32) and mixed lesions (n = 36) in patients with PAPS than the calcified one (n = 7, p disease progression.

  11. 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.

  12. The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome.

    Science.gov (United States)

    Busch, Alexander S; Tüttelmann, Frank; Zitzmann, Michael; Kliesch, Sabine; Gromoll, Jörg

    2015-05-01

    Klinefelter syndrome (47, XXY) is the most frequent genetic cause of male infertility and individuals share the endocrine hallmark of hypergonadotropic hypogonadism. Single-nucleotide polymorphisms located within the FSHB/FSHR gene were recently shown to impact serum follicle-stimulating hormone (FSH) levels and other reproductive parameters in men. The objective of this study was to analyse the effect of FSHB-211G>T (c.-280G>T, rs10835638) as well as FSHR c.2039G>A (rs6166) and FSHR c.-29G>A (rs1394205) on endocrine and reproductive parameters in untreated and testosterone-treated Klinefelter patients. Patients were retrospectively selected from the clientele attending a university-based andrology centre. A total of 309 non-mosaic Klinefelter individuals between 18 and 65 years were included and genotyped for the variants by TaqMan assays. The untreated group comprised 248 men, in which the FSHB -211G>T allele was significantly associated with the reduced serum follicle-stimulating hormone levels (-6.5 U/l per T allele, P=1.3 × 10(-3)). Testosterone treatment (n=150) abolished the observed association. When analysing patients before and under testosterone treatment (n=89), gonadotropin levels were similarly suppressed independently of the FSHB genotype. The FSHR polymorphisms did not exhibit any significant influence in any group, neither on the endocrine nor reproductive parameters. In conclusion, a hypergonadotropic setting such as Klinefelter syndrome does not mask the FSHB -211G>T genotype effects on the follicle-stimulating hormone serum levels. The impact was indeed more pronounced compared with normal or infertile men, whereas gonadotropin suppression under testosterone treatment seems to be independent of the genotype. Thus, the FSHB -211G>T genotype is a key determinant in the regulation of gonadotropins in different reproductive-endocrine pathopyhsiologies.

  13. Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner′s syndrome

    Directory of Open Access Journals (Sweden)

    Jane Jackie David

    2016-01-01

    Full Text Available We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner′s syndrome.

  14. Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner's syndrome.

    Science.gov (United States)

    David, Jane Jackie; Mohanlal, Smilu; Sankhe, Punam; Ghildiyal, Radha

    2016-01-01

    We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD) with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner's syndrome).

  15. A case's root cause analysis of osteofascial compartment syndrome induced by radial artery puncture and its defensive strategy

    Institute of Scientific and Technical Information of China (English)

    Feng-Ying Kang; Yang Yang; Yu-Ping Tong; Ya-Li Hu; Ning-Ning Xue

    2016-01-01

    Objective: The objective of this study was to reduce or avoid the occurrence of the cases of osteofascial compartment syndrome induced by a radial artery puncture for arterial blood gas analysis. Methods: We analyzed an adverse event using cheese model analysis, “fish bone” analysis, root cause analysis, and other methods. Results: There are three root causes leading to an adverse event:operation technique, assessment of the disease, and informing patient families. However, there are many reasons to promote the occurrence and development of the event. Conclusions: We should analyze and manage the adverse events in patients from the point of view of a system. Developing the measures of a system defense can enhance patient safety and create a good safety culture.

  16. Intraoperative dexmedetomidine and postoperative cerebral hyperperfusion syndrome in patients who underwent superficial temporal artery-middle cerebral artery anastomosis for moyamoya disease

    Science.gov (United States)

    Seo, Hyungseok; Ryu, Ho-Geol; Son, Je Do; Kim, Jeong-Soo; Ha, Eun Jin; Kim, Jeong-Eun; Park, Hee-Pyoung

    2016-01-01

    Abstract Dexmedetomidine, a selective α2-agonist, reduces cerebral blood flow and has neuroprotective effects against cerebral ischemia/reperfusion injury in experimental animals. We examined whether intraoperative dexmedetomidine would reduce the incidence of postoperative cerebral hyperperfusion syndrome (CHS) after superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis in patients with moyamoya disease. The electronic medical records of 117 moyamoya patients who underwent STA-MCA anastomosis were reviewed retrospectively. The patients were divided into 2 groups: 48 patients received intraoperative dexmedetomidine (Group D), while 69 patients did not (Group ND). The incidence (primary outcome), onset, and duration of postoperative CHS were noted. The incidence of postoperative CHS was 45.8% and 40.6% in groups D and ND, respectively (P = 0.708). The duration of postoperative CHS was shorter in group D than in group ND (median [Q1–Q3], 5 [3–7] vs 8 [5–10] days, P = 0.021). There was no significant difference in the onset of CHS between group D and group ND (0 [0–2] vs 1 [0–3] days, P = 0.226). In conclusion, intraoperative dexmedetomidine did not reduce the incidence of postoperative CHS, although it reduced the duration of CHS, in patients who had undergone direct revascularization surgery for moyamoya disease. PMID:28033272

  17. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter

    Energy Technology Data Exchange (ETDEWEB)

    Krakowiak, P.A.; O`Quinn, J.R.; Watkins, W.S. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States)] [and others

    1997-02-01

    Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures. We recently have characterized a new disorder (DA213) with a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that causes DA213 to chromosome 11p15.5-pter. Linkage analysis in a single kindred generated a positive LOD score of 5.31 at {theta} = 0 with the marker D11S922, and recombinants localize the gene to an {approximately}3.5-6.5-cM region between the marker TH and the telomere. Analysis of additional families improves the LOD score to 6.45 at {theta} = 0 and suggests linkage homogeneity for DA213. 24 refs., 4 figs., 2 tabs.

  18. Gerstmann meets Geschwind: a crossing (or kissing) variant of a subcortical disconnection syndrome?

    Science.gov (United States)

    Kleinschmidt, Andreas; Rusconi, Elena

    2011-12-01

    That disconnection causes clinical symptoms is a very influential concept in behavioral neurology. Criteria for subcortical disconnection usually are symptoms that are distinct from those following cortical lesions and damage to a single, long-range fiber tract. Yet, a recent study combining functional magnetic resonance imaging and fiber tracking concluded that a focal lesion in left parietal white matter provides the only tenable explanation for pure Gerstmann's syndrome, an enigmatic tetrad of acalculia, agraphia, finger agnosia, and left-right disorientation. Such a lesion would affect not only a single fiber tract but crossing or "kissing" of different fiber tracts and hence disconnect separate cortical networks. As fiber crossing is prominent in the cerebral white matter, the authors propose an extension to the subcortical disconnection framework that opens the door to ascribing a more diversified clinical phenomenology to white matter damage and ensuing disconnection than has been the case so far.

  19. 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, Hoai Viet; Guex, Nicolas; Venturini, Giulia; Munier, Francis L; Schorderet, Daniel F; Haider, Neena B; Escher, Pascal

    2015-06-01

    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 S-cones 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 (BRET(2) ) 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.

  20. Panax notoginseng saponins ameliorate impaired arterial vasodilation in SHRSP.Z-Lepr(fa) /lzmDmcr rats with metabolic syndrome.

    Science.gov (United States)

    Wu, Ting; Sun, Jianning; Kagota, Satomi; Maruyama, Kana; Wakuda, Hirokazu; Shinozuka, Kazumasa

    2016-04-01

    Panax notoginseng saponins (PNS) are major components of Panax notoginseng, a herb with established clinical efficacy against vascular diseases. SHRSP.Z-Lepr(fa) /IzmDmcr (SHRSP.ZF) rats, a new animal model for metabolic syndrome, display an impaired vasorelaxation response in aortas and mesenteric arteries that is mediated by nitric oxide (NO). This study investigated whether PNS and its components can ameliorate this vascular dysfunction in SHRSP.ZF rats. In an in vitro study, in the presence or absence of PNS and its components, vasodilation in response to nitroprusside was determined from myographs under isometric tension conditions in aortas and mesenteric arteries from male SHRSP.ZF rats at 18-20 weeks of age. In an in vivo study, PNS (30 mg/kg per day) was orally administered to SHRSP.ZF rats from 8 to 20 weeks of age. In vitro treatment with PNS and Ginsenoside Rb1 increased nitroprusside-induced relaxation of aortas and mesenteric arteries in SHRSP.ZF rats. The PNS-induced increase was not affected by a nitric oxide (NO) synthase inhibitor or endothelium denudation. Relaxation in response to a cell-permeable cGMP analogue was increased by PNS, but cGMP accumulation by nitroprusside was not altered. In vivo treatment with PNS in SHRSP.ZF rats lowered blood pressure and increased relaxation and the expression of soluble guanylyl cyclase protein in arteries, without affecting metabolic abnormalities. These results indicate that PNS causes an increase in vasodilation in response to NO and a decrease in blood pressure, resulting in protection against vascular dysfunction in SHRSP.ZF rats. PNS might be beneficial in alleviating impaired vasodilation in metabolic syndrome.

  1. Ureteroiliac Artery Fistula in a Young Woman with Short Bowel Syndrome for Radiation Enteritis

    Directory of Open Access Journals (Sweden)

    Lidia Santarpia

    2010-01-01

    Full Text Available Ureteral-iliac artery fistula is a rare and potentially life-threatening complication, typically occurring after radiation therapy in already surgically treated cancer patients. This case report describes the diagnostic challenges and the successful management, with the positioning of an intra-arterial prosthesis, of a fistula between the internal iliac artery and the left ureter presenting as massive hematuria in a young woman with history of total colectomy and pelvic radiotherapy for rectal cancer and subsequent wide ileal resections and bilateral ureteral stent positioning for radiation enteritis. Ureteroiliac artery fistulas require a prompt diagnosis and intervention, to avoid life threatening clinical events.

  2. Association between functional variants of the ICAM1 and CRP genes and metabolic syndrome in Taiwanese subjects.

    Science.gov (United States)

    Hsu, Lung-An; Chang, Chi-Jen; Wu, Semon; Teng, Ming-Sheng; Chou, Hsin-Hua; Chang, Hsien-Hsun; Chang, Pi-Yueh; Ko, Yu-Lin

    2010-12-01

    Although inflammation has been shown to play an important role in metabolic syndrome (MetS), the association between inflammatory marker gene polymorphisms and the risk of MetS has not been fully elucidated. This study was initiated to investigate the association between functional variants of inflammatory marker genes and the risk of MetS in Taiwanese adults. The sample population comprised 615 unrelated subjects, of which 22% had MetS. The single nucleotide polymorphisms rs5491 on the intercellular adhesive molecule 1 (ICAM1) gene and rs3091244 on C-reactive protein (CRP) were genotyped. The ICAM1 rs5491 polymorphism was significantly associated with the level of soluble intercellular adhesive molecule 1 (P gene polymorphisms play an important role in modulating the risk of insulin resistance and MetS for subjects with central obesity. These findings will contribute toward a better understanding of the mechanism of association between inflammatory markers and the risk of developing atherosclerotic disease.

  3. 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.

  4. 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.

  5. A case of anomalous origin and course of vertebral artery in a patient with klippel feil syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ulusoy, Onur Levent; Barlas, Sezgi Burcin; Mutlu, Ayhan [Dept. of Radiology, Istanbul Florence Nightingale Hospital, Istanbul (Turkmenistan); Sasani, Hadi [Dept. of Radiology, Near East University School of Medicine, Nicosia (Cyprus); Sasani, Mehdi [Dept. of Anatomy, Trakya University, Faculty of Medicine, Edirne (Turkmenistan)

    2016-07-15

    Patients with Klippel-Feil syndrome (KFS) have an increased incidence of vascular anomalies as well as vertebral artery (VA) anomalies. In this article, we presented imaging findings of a 15-year-old female patient with KFS with a rare association of extraforaminal cranially ascending right VA that originated from the ipsilateral carotid bulb. Trifurcation of the carotid bulb with VA is a very unusual variation and to the best of our knowledge, right-sided one has not been reported in the literature.

  6. A Case of Anomalous Origin and Course of Vertebral Artery in a Patient with Klippel Feil Syndrome

    Science.gov (United States)

    Sasani, Hadi; Barlas, Sezgi Burçin; Mutlu, Ayhan; Sasani, Mehdi

    2016-01-01

    Patients with Klippel-Feil syndrome (KFS) have an increased incidence of vascular anomalies as well as vertebral artery (VA) anomalies. In this article, we presented imaging findings of a 15-year-old female patient with KFS with a rare association of extraforaminal cranially ascending right VA that originated from the ipsilateral carotid bulb. Trifurcation of the carotid bulb with VA is a very unusual variation and to the best of our knowledge, right-sided one has not been reported in the literature. PMID:27390547

  7. Double hazards of ischemia and reperfusion arrhythmias in a patient with variant angina pectoris.

    Science.gov (United States)

    Xu, Mingzhu; Yang, Xiangjun

    2015-01-01

    Variant angina pectoris, also called Prinzmetal's angina, is a syndrome caused by vasospasms of the coronary arteries. It can lead to myocardial infarction, ventricular arrhythmias, atrioventricular block and even sudden cardiac death. We report the case of a 53 year-old male patient with recurrent episodes of chest pain and arrhythmias in the course of related variant angina pectoris. It is likely that the reperfusion following myocardial ischemia was responsible for the ventricular fibrillation while the ST-segment returned to the baseline. This case showed that potential lethal arrhythmias could arise due to variant angina pectoris. It also indicated that ventricular fibrillation could be self-terminated.

  8. Relationship of GSTM1 and GSTT1 genetic variant and markers of oxidative stress and inflammation in smokers with coronary artery disease

    Institute of Scientific and Technical Information of China (English)

    ChanggaoZhou; Jianjin Tang; Mingwei Wang; Jianjun Yan; Qiming Wang; Jun Zhu; Zhijian Yang; Liansheng Wang

    2009-01-01

    Objective: To investigate the role of glutathione S-transferase (GST) genetic variants and markcrs of oxidative stress and inflammation in smoking-related coronary artery disease (CAD) patients. Methods: Five hundred and thirty-five Chinese CAD patients were successfully gcnotyped. Plasma total antioxidant status (TAOS), glutathione, C-reactive protein (CRP), fibfinogen(FIB) and white blood cell count (WBC) were determined to evaluate the oxidative stress and inflammatory response. Results: GSTM1-0/ GSTT1-0 subjects had a higher CRP, FIB, WBC and GSH and a lower TAOS compared to patients with wild-type GSTM1/GSTT1 genes, but there was significant difference only with regards to TAOS. Smokers with the null genotype of GSTT1 had the highest CRP and the lowest TAOS and GSH when compared to the GSTT1-1 genotype with smoking status, or the GSTT1-0 genotype with non-smoking stares, or the GSTT1-1 genotypc with non-smoking status. However, we found no significant difference between these groups. Also, no significant interaction was observed between genotypes and smoking stares in determining CRP levels. Conclusion: Our results suggest that GST polymorphisms do not modify the effect of smoking on markers of oxidative stress and inflammation in Chinese CAD patients.

  9. Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7

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    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

  10. Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery.

    Science.gov (United States)

    Hernando, Mónica; Urbasos, María; Amarillo, Viviana Elizabeth; Herrera, María Teresa; García-Peces, Victoria; Plaza, Guillermo

    2014-04-01

    We describe a case with Wildervanck syndrome (cervico-oculo-acoustic syndrome) comprising Klippel-Feil anomaly, retractio bulbi (Duane syndrome), and congenital sensorineural deafness. An 18-month male baby had a severe inner ear dysplasia, and MRI also showed a complex vascular carotid malformation associated.

  11. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mastroianni, N.; De Fusco, M.; Casari, G. [Univsersita` di Milano (Italy)] [and others

    1996-11-01

    A hereditary defect of the distal tubule accounts for the clinical features of Gitelman syndrome (GS), an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Recently, we cloned the cDNA coding for the human Na-Cl thiazide-sensitive cotransporter (TSC; also known as {open_quotes}NCCT{close_quotes} or {open_quotes}SLC12A3{close_quotes}) as a possible candidate for GS, and Simon et al., independently, described rotation in patients with GS. Now, we show 12 additional mutations consistent with a loss of function of the Na-Cl cotransporter in GS. Two missense replacements, R09W and P349L, are common to both studies and could represent ancient mutations. The other mutations include three deletions, two insertions, and six missense mutations. When all mutations from both studies are considered, missense mutations seem to be more frequently localized within the intracellular domains of the molecule, rather than in transmembrane or extracellular domains. One family, previously reported as a GS form with dominant inheritance, has proved to be recessive, with the affected child being a compound heterozygote. A highly informative intragenic tetranucleotide marker, useful for molecular diagnostic studies, has been identified at the acceptor splice site of exon 9. 12 refs., 3 figs., 2 tabs.

  12. FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.

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    Kathryn G Ewens

    Full Text Available Polycystic ovary syndrome (PCOS is the leading cause of anovulatory infertility in women. It is also associated with metabolic disturbances that place women at increased risk for obesity and type 2 diabetes. There is strong evidence for familial clustering of PCOS and a genetic predisposition. However, the gene(s responsible for the PCOS phenotypes have not been elucidated. This two-phase family-based and case-control genetic study was designed to address the question of whether SNPs identified as susceptibility loci for obesity in genome-wide association studies (GWAS are also associated with PCOS and elevated BMI. Members of 439 families having at least one offspring with PCOS were genotyped for 15 SNPs previously shown to be associated with obesity. Linkage and association with PCOS was assessed using the transmission/disequilibrium test (TDT. These SNPs were also analyzed in an independent case-control study involving 395 women with PCOS and 176 healthy women with regular menstrual cycles. Only one of these 15 SNPs (rs2815752 in NEGR1 was found to have a nominally significant association with PCOS (χ(2 = 6.11, P = 0.013, but this association failed to replicate in the case-control study. While not associated with PCOS itself, five SNPs in FTO and two in MC4R were associated with BMI as assessed with a quantitative-TDT analysis, several of which replicated association with BMI in the case-control cohort. These findings demonstrate that certain SNPs associated with obesity contribute to elevated BMI in PCOS, but do not appear to play a major role in PCOS per se. These findings support the notion that PCOS phenotypes are a consequence of an oligogenic/polygenic mechanism.

  13. Identification of gene variants related to the nitric oxide pathway in patients with acute coronary syndrome.

    Science.gov (United States)

    Umman, B; Cakmakoglu, B; Cincin, Z B; Kocaaga, M; Emet, S; Tamer, S; Gokkusu, C

    2015-12-10

    Dysfunction of vascular endothelium is known to have an essential role in the atherosclerotic process by releasing mediators including nitric oxide (NO). Nitric oxide maintains endothelial balance by controlling cellular processes of vascular smooth muscle cells. Evidence suggests that variations in the NO pathway could include atherosclerotic events. The objective of this study was to determine the possible effects of genes on the nitric oxide pathway in the development of acute coronary syndrome (ACS). The blood samples of 100 patients with ACS and 100 controls were collected at Istanbul University, Department of Cardiology. DNA samples were genotyped by using Illumina Cyto-SNP-12 BeadChip. The additive model and Correlation/Trend Test were selected for association analysis. Afterwards, a Q-Q graphic was drawn to compare expected and obtained values. A Manhattan plot was produced to display p-values that were generated by -log10(P) function for each SNP. The p-values under 1×10(-4) were selected as statistically significant SNPs while p-values under 5×10(-2) were considered as suspicious biomarker candidates. Nitric oxide pathway analysis was then used to find the single nucleotide polymorphisms (SNPs) related to ACS. As a result, death-associated protein kinase 3 (DAPK) (rs10426955) was found to be most statistically significant SNP. The most suspicious biomarker candidates associated with the nitric oxide pathway analysis were vascular endothelial growth factor A (VEGFA), methionine sulfoxide reductase A (MSRA), nitric oxide synthase 1 (NOS1), and GTP cyclohydrolase I (GCH-1). Further studies with large sample groups are necessary to clarify the exact role of nitric oxide in the development of disease.

  14. 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.

  15. Maternal TLR4 and NOD2 gene variants, pro-inflammatory phenotype and susceptibility to early-onset preeclampsia and HELLP syndrome.

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    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.

  16. Relationship between coronary artery calcification and osteopenic syndrome in men with coronary heart disease

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    T. A. Raskina

    2016-01-01

    Full Text Available Objective: to investigate the relationship between coronary artery calcification (CAC and osteopenic syndrome in men with coronary heart disease (CHD.Subjects and methods. A total of 102 men aged 51 to 75 years (mean age 61 (55; 65 years with verified CHD were examined. Bone mineral density (BMD and its T-score of LI–IV and femoral neck were determined by dual-energy X-ray absorptiometry. According to the T-score, the men were divided into 3 groups: 1 33 (32.4% patients with osteoporosis (OP (T-score <-2.5; 2 48 (47.0% patients with osteopenia (OSP (T-score -1 to -2.5 and 3 21 (20.6% examinees with normal BMD (NBMD (T-score ≥-1. In all the patients, CAC was quantified by multislice spiral computed tomography. The investigators calculated CA calcium scores by the Agatston method and rated the extent of calcification: none (0, minimal (1–10, mild (11–100, moderate (101–400, or severe (>400.Results and discussion. Severe CAC was detected in 57.8% of the men; moderate CAC was in 25.5%; mild CAC was in 6.9; minimal CAC was in 2.0%; and none CAC was in 7.8%. In the OP group, the majority (69.7% of the patients had severe CAC; 15.1% had moderate CAC, 6.1% had mild CAC; 3.0% had minimal CAC; CAC was undetected in 6.1% of cases. In the OSP group, there was severe CAC in 60.4%, moderate CAC in 33.3%, mild CAC in 4.2%, and minimal CAC in 2.1%. The patients without CAC were absent in this group. In the NBMD group, 33.3% of the examinees were recorded to have severe CAC; 23.8% had moderate CAC; 14.3% had mild CAC; CAC was undetected in 28.6%. Minimal CAC was also undetected in the patients of this group. There was a preponderance of patients with severe CAC in all the groups of those identified by the T-score. The extent of CAC was significantly lower in the NBMD group than in the OSP group (p<0.05. CAC was significantly more frequently absent in the NBMD group than in the low BMD group (p<0.05. There was an inverse correlation between

  17. Mutation in LEMD3 (Man1 Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

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    Benjamin Korman

    2016-01-01

    Full Text Available Introduction. Buschke-Ollendorf syndrome (BOS is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions. Evaluation revealed multiple hyperostotic lesions (osteopoikilosis suggestive of BOS. DNA sequencing identified a previously undescribed nonsense mutation (Trp621X in the LEMD3 gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the same LEMD3 mutation. Conclusions and Relevance. We report a unique familial LEMD3 mutation in an individual with osteopoikilosis and late-onset morphea. We propose that this constellation represents a novel syndromic variant of BOS.

  18. Locked-in syndrome in a patient with acute obstructive hydrocephalus, caused by large unruptured aneurysm of the basilar artery (BA).

    Science.gov (United States)

    Kolić, Zlatko; Kukuljan, Melita; Vukas, Duje; Bonifačić, David; Vrbanec, Kristina; Franić, Ivana Karla

    2016-09-15

    We describe a case of acute obstructive hydrocephalus as a consequence of compression of the brainstem by a large aneurysm of the basilar artery (BA) in a 62-year-old male. After the insertion of the ventriculoperitoneal shunt (VPS), we encountered the "locked-in syndrome" clinical condition. "Locked-in syndrome" is a clinical state characterized by quadriplegia and anarthria with preserved consciousness, most commonly caused by ischemia in the ventral part of pons.

  19. 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.

  20. Posterior reversible encephalopathy syndrome could be an underestimated variant of “reversible neurological deficits” in Systemic Lupus Erythematosus

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    Liu Bin

    2012-12-01

    Full Text Available Abstract Background Posterior reversible encephalopathy syndrome (PRES has been increasingly identified in patients with systemic lupus erythematosus (SLE owing to the advance in neuroimaging techniques. Prompt diagnosis is pivotal to improve its outcome. To analyze the clinical and radiographic profile of PRES in patients with SLE and search for the appropriate treatment strategy PRES in SLE. Methods SLE patients who fulfilled the diagnostic criteria for PRES from August 2008 to January 2011 were evaluated at baseline, and followed to determine clinical outcomes. Data were analysis on clinical characteristics, laboratory abnormalities, treatment details, and outcomes. Results Ten episodes of PRES in patients with SLE were identified. All patients were female, mean age of onset was 22.93 ± 2.48 years, and SLEDAI at the onset of PRES were 25.8 ± 5.7. All cases had acute onset of headache, altered mental status, stupor, vomiting, cortical blindness and seizures. Neurological symptoms were the initial manifestation of SLE in three cases. Head magnetic resonance imaging (MRI demonstrated posterior white matter edema involving the parietal, temporal and occipital lobes, which were more conspicuous on T2 weighted spin echo and diffusion-weighted MR imaging (DWI than on computed tomography (CT scan. Complete clinical and radiographic recovery was observed in 8 patients after prompt treatment with corticosteroids. Conclusions PRES might be due to lupus per se besides other traditional causative factors such as hypertension. PRES might be an underestimated variant of “reversible neurological deficits” in SLE. Prompt recognition and timely management is important to prevent permanent neurological deficits.

  1. 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....

  2. Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery.

    Science.gov (United States)

    Piro, Ettore; Piccione, Maria; Marrone, Gianluca; Giuffrè, Mario; Corsello, Giovanni

    2013-05-14

    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, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left hemiatrophy associated with reduced caliber of the left middle cerebral artery revealing the characteristic findings of the Dyke-Davidoff-Masson syndrome. Prenatal imaging, cerebral vascular anomaly responsible for the cerebral hemiatrophy and the early clinical evolution have never been described before in such a young child and complete the acquired clinical descriptions in older children. Differential diagnosis, genetic investigations, neurophysiologic assessments, short term clinical and developmental follow up are described. Dyke-Davidoff-Masson syndrome must be ruled out in differential diagnosis of fetal unilateral ventriculomegaly. Early clinical assessment, differential diagnosis and cerebral imaging including cerebral MRI angiography allow the clinicians to diagnose also in early infancy this rare condition.

  3. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

    Science.gov (United States)

    Prakash, Siddharth K; Bondy, Carolyn A; Maslen, Cheryl L; Silberbach, Michael; Lin, Angela E; Perrone, Laura; Limongelli, Giuseppe; Michelena, Hector I; Bossone, Eduardo; Citro, Rodolfo; Lemaire, Scott A; Body, Simon C; Milewicz, Dianna M

    2016-12-01

    Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. © 2016 Wiley Periodicals, Inc.

  4. Cardiovascular events in acute coronary syndrome patients with peripheral arterial disease treated with ticagrelor compared to clopidogrel: Data from the PLATO trials

    DEFF Research Database (Denmark)

    Patel, Manesh R.; Becker, Richard C.; Wojdyla, Daniel M.;

    Abstract 14299: Cardiovascular Events in Acute Coronary Syndrome Patients With Peripheral Arterial Disease Treated With Ticagrelor Compared to Clopidogrel: Data From the PLATO Trial Manesh R Patel1; Richard C Becker1; Daniel M Wojdyla2; Håkan Emanuelsson3; William Hiatt4; Jay Horrow5; Steen Husted6...

  5. Arterial hypertension in children with hemolytic uremic syndrome after kidney transplantation.

    Science.gov (United States)

    Hoenecke, Johannes; Hartmann, Hans; Melk, Anette

    2015-08-01

    The development of arterial hypertension after KTX is a well-known complication. HUS is a systemic disease associated with arterial hypertension during long-term follow-up. Our goal was to report on the severity of arterial hypertension after KTX in patients with typical and atypical HUS. We analyzed the course of 197 patients with HUS, of which 22 (n = 10 with typical HUS; n = 12 with atypical HUS) developed ESRF and received KTX as renal replacement therapy. We analyzed data from 1766 casual BP and 85 24-h ABPM measurements. In addition, we evaluated the used antihypertensive strategy. Comparison between the two patient groups revealed that patients with atypical HUS had significantly higher casual SBP-SDS and DBP-SDS values after KTX despite similar intensity of antihypertensive treatment. These data were supported by analysis of ABPM profiles showing comparable results for the interval 1-5 yr after KTX. Patients with atypical HUS had a greater severity of arterial hypertension despite similar treatment strategies and intensity of treatment. Our observation, even though in a small cohort, supports recent genetic studies showing arterial hypertension closely associated with HUS-causing mutations in patients with atypical HUS.

  6. 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.

  7. 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

    as many of the original studies used low number of controls. To study whether there are possible false-positive variants associated with MFS, four in silico prediction tools (SIFT, Polyphen-2, Grantham score, and conservation across species) were used to predict the pathogenicity of these variant. RESULTS...

  8. Minimally invasive direct coronary artery bypass plus coronary stent for acute coronary syndrome: a case report

    Institute of Scientific and Technical Information of China (English)

    Caiyi Lu; Gang Wang; Qi Zhou; Jinwen Tian; Lei Gao; Shenhua Zhou; Jinyue Zhai; Rui Chen; Zhongren Zhao; Cangqing Gao; Shiwen Wang; Yuxiao Zhang; Ming Yang; Qiao Xue; Cangsong Xiao; Wei Gao; Yang Wu

    2008-01-01

    A 69-year old female patient was admitted because of 3 days of worsened chest pain.Coronary angiography showed60% stenosis of distal left main stem,chronic total occlusion of left anterior descending (LAD),70% stenosis at the ostium of a smallleft circumflex,70-90%stenosis at the paroxysmal and middle part of a dominant fight coronary artery (RCA),and a normal left internalmammary artery (LIMA) with normal origination and orientation.Percutaneous intervention was attempted but failed on the occludedlesion of LAD.The patient received minimally invasive direct coronary artery bypass (MIDCAB) with left LIMA isolation by Davincirobot.Eleven days later,the RCA lesion was treated by Sirolimus Rapamicin eluting stents implantation percutaneously.Then thepatient was discharged uneventfully after 3 days hospitalization.Our experience suggests that two stop shops of hybrid technique befeasible and safe in the treatment of elderly patient with multiple coronary diseases.

  9. 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.;

    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...

  10. 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...

  11. CD3-CD4+ lymphoid variant of hypereosinophilic syndrome: nodal and extranodal histopathological and immunophenotypic features of a peripheral indolent clonal T-cell lymphoproliferative disorder.

    Science.gov (United States)

    Lefèvre, Guillaume; Copin, Marie-Christine; Roumier, Christophe; Aubert, Hélène; Avenel-Audran, Martine; Grardel, Nathalie; Poulain, Stéphanie; Staumont-Sallé, Delphine; Seneschal, Julien; Salles, Gilles; Ghomari, Kamel; Terriou, Louis; Leclech, Christian; Morati-Hafsaoui, Chafika; Morschhauser, Franck; Lambotte, Olivier; Ackerman, Félix; Trauet, Jacques; Geffroy, Sandrine; Dumezy, Florent; Capron, Monique; Roche-Lestienne, Catherine; Taieb, Alain; Hatron, Pierre-Yves; Dubucquoi, Sylvain; Hachulla, Eric; Prin, Lionel; Labalette, Myriam; Launay, David; Preudhomme, Claude; Kahn, Jean-Emmanuel

    2015-08-01

    The CD3(-)CD4(+) lymphoid variant of hypereosinophilic syndrome is characterized by hypereosinophilia and clonal circulating CD3(-)CD4(+) T cells. Peripheral T-cell lymphoma has been described during this disease course, and we observed in our cohort of 23 patients 2 cases of angio-immunoblastic T-cell lymphoma. We focus here on histopathological (n=12 patients) and immunophenotypic (n=15) characteristics of CD3(-)CD4(+) lymphoid variant of hypereosinophilic syndrome. Atypical CD4(+) T cells lymphoid infiltrates were found in 10 of 12 CD3(-)CD4(+) L-HES patients, in lymph nodes (n=4 of 4 patients), in skin (n=9 of 9) and other extra-nodal tissues (gut, lacrymal gland, synovium). Lymph nodes displayed infiltrates limited to the interfollicular areas or even an effacement of nodal architecture, associated with proliferation of arborizing high endothelial venules and increased follicular dendritic cell meshwork. Analysis of 2 fresh skin samples confirmed the presence of CD3(-)CD4(+) T cells. Clonal T cells were detected in at least one tissue in 8 patients, including lymph nodes (n=4 of 4): the same clonal T cells were detected in blood and in at least one biopsy, with a maximum delay of 23 years between samples. In the majority of cases, circulating CD3(-)CD4(+) T cells were CD2(hi) (n=9 of 14), CD5(hi) (n=12 of 14), and CD7(-)(n=4 of 14) or CD7(low) (n=10 of 14). Angio-immunoblastic T-cell lymphoma can also present with CD3(-)CD4(+) T cells; despite other common histopathological and immunophenotypic features, CD10 expression and follicular helper T-cell markers were not detected in lymphoid variant of hypereosinophilic syndrome patients, except in both patients who developed angio-immunoblastic T-cell lymphoma, and only at T-cell lymphoma diagnosis. Taken together, persistence of tissular clonal T cells and histopathological features define CD3(-)CD4(+) lymphoid variant of hypereosinophilic syndrome as a peripheral indolent clonal T-cell lymphoproliferative

  12. 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.

  13. [Possibilities of the use of moxonidine in the treatment of arterial hypertension in patients with metabolic syndrome and diabetes].

    Science.gov (United States)

    Minushkina, L O

    2011-01-01

    In pathogenesis of arterial hypertension (AH) and metabolic syndrome (MS) important role plays activation of sympathetic part of vegetative nervous system (VNS). Centrally acting antihypertensive drugs promote lowering of tone of its nuclei. Moxonidine belongs to this group of antihypertensive preparations. Mechanism of action of this drug, peculiarities of its pharmacokinetics are considered in this review. Data on antihypertensive efficacy of moxonidine, possibilities of combination therapy in AH are presented. Literature data on effect of therapy with moxonidine on carbohydrate metabolism, sensitivity of tissues to insulin are presented as well. Possible benefit from administration of this drug to patients with excessive body mass, MS, diabetes mellitus are shown. Data on organoprotective properties of moxonidine (effect on endothelial function, microalbuminuria) are analyzed.

  14. Persistent Müllerian duct syndrome of mixed anatomical variant (combined male and female type with mixed germ cell tumor of left intra-abdominal testis

    Directory of Open Access Journals (Sweden)

    Manisha Mohapatra

    2016-01-01

    Full Text Available Persistent Müllerian duct syndrome (PMDS is a rare form of internal male pseudohermaphroditism characterized by retention of Müllerian duct derivatives in a phenotypically and karyotypically male patient. Deficiency of anti-Müllerian hormone (AMH secretion or resistance to AMH action due to defective AMH-II receptor is presumed to cause such syndrome in the majority of cases. About 158 PMDS cases have been reported so far, out of which 31 cases are associated with testicular neoplasms. Herein, we describe an interesting case of young male initially diagnosed and treated for inguinal hernia, but finally diagnosed as “PMDS of mixed anatomical variant (combined male and female type with mixed germ cell tumor of left intra-abdominal testis” comprising components of seminoma and yolk sac tumor and treated successfully.

  15. Síndrome do notocórdio fendido, variante rara do cisto neuroentérico A rare variant of neuroenteric cyst: split notochord syndrome

    Directory of Open Access Journals (Sweden)

    Lisieux E Jesus

    2004-02-01

    Full Text Available OBJETIVO: Estudo de um caso de síndrome do notocórdio fendido, forma extremamente rara de disrafismo medular. A literatura pertinente, pesquisada através das bases de dados MEDLINE e LILACS, é analisada e sumarizada. DESCRIÇÃO: Foi atendido lactente masculino de 2 meses de idade apresentando extensa deformidade de coluna lombo-sacra, hidrocefalia e exteriorização de alças intestinais pela linha média dorsal, acompanhada de fístula entérica e imperfuração anal. A malformação foi diagnosticada como síndrome do notocórdio fendido. A criança evoluiu para óbito secundário a sepse antes de ser feito qualquer tratamento cirúrgico. COMENTÁRIOS: A síndrome do notocórdio fendido é a forma mais rara de cisto neuroentérico já descrita (OBJECTIVE: We present a case of split notochord syndrome, an extremely rare form of spinal dysraphism. DESCRIPTION: We treated a 2 month-old boy presenting with an extensive lumbosacral deformity, hydrocephalus and apparent enteric segments in the dorsal midline, accompanied by an enteric fistula and imperforated anus. The malformation was diagnosed as split notochord syndrome. The baby died as a result of sepsis before surgical treatment could be attempted. COMMENTS: Split notochord syndrome is the rarest form of neuroenteric cyst described until this moment (< 25 cases in the literature. It is frequently associated with anorectal malformation, intestinal fistulae and hydrocephalus. Prognosis is not necessarily poor and survival is possible if digestive malformations, hydrocephalus and the dysraphism itself are treated simultaneously.

  16. Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

    Science.gov (United States)

    Trotta, Luca; Hautala, Timo; Hämäläinen, Sari; Syrjänen, Jaana; Viskari, Hanna; Almusa, Henrikki; Lepisto, Maija; Kaustio, Meri; Porkka, Kimmo; Palotie, Aarno; Seppänen, Mikko; Saarela, Janna

    2016-01-01

    Antibody class-switch recombination and somatic hypermutation critically depend on the function of activation-induced cytidine deaminase (AID). Rare variants in its gene AICDA have been reported to cause autosomal recessive AID deficiency (autosomal recessive hyper-IgM syndrome type 2 (HIGM2)). Exome sequencing of a multicase Finnish family with an HIGM2 phenotype identified a rare, homozygous, variant (c.416T>C, p.(Met139Thr)) in the AICDA gene, found to be significantly enriched in the Finnish population compared with other populations of European origin (38.56-fold, P<0.001). The population history of Finland, characterized by a restricted number of founders, isolation and several population bottlenecks, has caused enrichment of certain rare disease-causing variants and losses of others, as part of a phenomenon called the Finnish Disease Heritage. Accordingly, rare founder mutations cause the majority of observed Finnish cases in these mostly autosomal recessive disorders that consequently are more frequent in Finland than elsewhere. Screening of all currently known Finnish patients with an HIGM2 phenotype showed them to be homozygous for p.(Met139Thr). All the Finnish p.(Met139Thr) carriers with available data on their geographic descent originated from the eastern and northeastern parts of Finland. They were observed to share more of their genome identity by descent (IBD) than Finns in general (P<0.001), and they all carried a 207.5-kb ancestral haplotype containing the variant. In conclusion, the identified p.(Met139Thr) variant is significantly enriched in Finns and explains all thus far found AID deficiencies in Finland. PMID:27142677

  17. Arterial structure and function in subjects with acute coronary syndrome after one-year of treatment.

    Science.gov (United States)

    Schneider, Agata; Gawęcka, Joanna; Minczykowski, Andrzej; Krauze, Tomasz; Guzik, Przemysław; Piskorski, Jarosław; Heathers, James; Wykrętowicz, Andrzej

    2017-02-15

    INTRODUCTION    It is controversial whether the modification of arterial stiffness and intima-media thickness (IMT) is plausible in patients with clinically significant atherosclerosis.  OBJECTIVES    We evaluated the effects of the one-year pharmacological therapy on the arterial stiffness and IMT in survivors of non-ST elevation myocardial infarction (NSTEMI) who were treated according to the clinical guidelines.  PATIENTS AND METHODS    For this study 298 NSTEMI patients (median age 64 years; 85 females) were enrolled. Local (carotid) arterial stiffness and IMT were measured noninvasively before the discharge and after 12 months of the applied contemporary pharmacological treatment. The study group was subdivided into those with normal systolic blood pressure (BP), (<140 mmHg) and increased systolic BP (≥140 mmHg) at follow-up. The results are presented as median and 25th-75th percentile. RESULTS    In both groups with normal and increased systolic BP there were no significant changes in the local arterial stiffness (8.9 (7.9-10.9) vs 8.7 (7.8-10.1) m/s; 9.6 (8.3-11.0) vs 10.4 (9.1-12.4) m/s, P = 0.67 and P = 0.05), however a significant reduction in the IMT was found (777 (664-896) vs 715 (619-841) µm; 818 (720-962) vs 760 (674-897) µm; P = 0.0003 and P = 0.001). Arterial stiffness and IMT are influenced by age and mean BP, however adjustment for these variables did not affect the obtained results in the multivariate models. CONCLUSIONS    The pharmacological treatment of the post-NSTEMI patients for one year was accompanied by a significant reduction in the IMT but had no effects on the properties of the vessel structure.

  18. 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;

    2012-01-01

    difficult for missense variants because most variants in the CHD7 gene are private and a functional assay is not yet available. We have therefore developed a novel classification system to predict the pathogenic effects of CHD7 missense variants that can be used in a diagnostic setting. Our classification...... system combines the results from two computational algorithms (PolyPhen-2 and Align-GVGD) and the prediction of a newly developed structural model of the chromo- and helicase domains of CHD7 with segregation and phenotypic data. The combination of different variables will lead to a more confident...

  19. The gene for the ataxia-telagiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21

    Energy Technology Data Exchange (ETDEWEB)

    Saar, K.; Stumm, M.; Wegner, R.D. [Humboldt Univ. (Germany)] [and others

    1997-03-01

    Nijmegen breakage syndrome (NBS; Seemanova II syndrome) and Berlin breakage syndrome (BBS), also known as ataxia-telangiectasia variants, are two clinically indistinguishable autosomal recessive familial cancer syndromes that share with ataxia-telangiectasia similar cellular, immunological, and chromosomal but not clinical findings. Classification in NBS and BBS was based on complementation of their hypersensitivity to ionizing radiation in cell-fusion experiments. Recent investigations have questioned the former classification into two different disease entities, suggesting that NBS/BBS is caused by mutations in a single radiosensitivity gene. We now have performed a whole-genome screen in 14 NBS/BBS families and have localized the gene for NBS/BBS to a 1-cM interval on chromosome 8q21, between markers D8S271 and D8S270, with a peak LOD score of 6.86 at D8S1811. This marker also shows strong allelic association to both Slavic NBS and German BBS patients, suggesting the existence of one major mutation of Slavic origin. Since the same allele is seen in both former complementation groups, genetic homogeneity of NBS/BBS can be considered as proved. 21 refs., 2 figs., 2 tabs.

  20. Genetic Variants Are Not Associated with Outcome in Patients with Coronary Artery Disease and Left Ventricular Dysfunction: Results of the Genetic Sub-study of the Surgical Treatment for Ischemic Heart Failure (STICH) Trials

    Science.gov (United States)

    Feldman, Arthur M.; She, Lilin; McNamara, Dennis M.; Mann, Douglas L.; Bristow, Michael R.; Maisel, Alan S.; Wagner, Daniel R.; Andersson, Bert; Chiariello, Luigi; Hayward, Christopher S.; Hendry, Paul; Parker, John D.; Racine, Normand; Selzman, Craig H.; Senni, Michele; Stepinska, Janina; Zembala, Marian; Rouleau, Jean; Velazquez, Eric J.; Lee, Kerry L.

    2015-01-01

    Objectives and Background We evaluated the ability of 23 genetic variants to provide prognostic information in patients enrolled in the Genotype Sub-studies of the Surgical Treatment for Ischemic Heart Failure (STICH) trials. Methods Patients in STICH Hypothesis 1 were randomized to medical therapy with or without CABG (Coronary Artery Bypass Grafting). Those in STICH Hypothesis 2 were randomized to CABG or CABG with left ventricular reconstruction. Results In patients assigned to STICH Hypothesis 2 (n=714), no genetic variant met the pre-specified Bonferroni-adjusted threshold for statistical significance (p<0.002); however, several met nominal prognostic significance: variants in the β2-adrenergic receptor gene (β2-AR Gln27Glu) and in the A1-adenosine receptor gene (A1-717 T/G) were associated with an increased risk of a subject dying or being hospitalized for a cardiac problem (p=0.027 and 0.031, respectively). These relationships remained nominally significant even after multivariable adjustment for prognostic clinical variables. However, none of the 23 genetic variants influenced all-cause mortality or the combination of death or cardiovascular hospitalization in the STICH Hypothesis 1 population (n=532) by either univariate or multivariable analysis. Conclusion We were unable to identify the predictive genotypes in optimally treated patients in these two ischemic heart failure populations. PMID:25592552

  1. The Popeye syndrome--brachial artery entrapment as a result of muscular hypertrophy.

    Science.gov (United States)

    Biemans, R G

    1984-08-01

    In eight patients a diagnosis of entrapment of the brachial artery in the cubital fossa was established. All were muscular middle-aged men, who had performed heavy work with their arms for many years. For no immediately apparent reason they began to complain of weakness of the musculature of forearm and hand. The clinical details, diagnosis and simple treatment, which resulted in every case in complete relief of symptoms, are described.

  2. Blocking farnesylation of the prelamin A variant in Hutchinson-Gilford progeria syndrome alters the distribution of A-type lamins

    Science.gov (United States)

    Wang, Yuexia; Ӧstlund, Cecilia; Choi, Jason C.; Swayne, Theresa C.; Gundersen, Gregg G.; Worman, Howard J.

    2012-01-01

    Mutations in the lamin A/C gene that cause Hutchinson-Gilford progeria syndrome lead to expression of a truncated, permanently farnesylated prelamin A variant called progerin. Blocking farnesylation leads to an improvement in the abnormal nuclear morphology observed in cells expressing progerin, which is associated with a re-localization of the variant protein from the nuclear envelope to the nuclear interior. We now show that a progerin construct that cannot be farnesylated is localized primarily in intranuclear foci and that its diffusional mobility is significantly greater than that of farnesylated progerin localized predominantly at the nuclear envelope. Expression of non-farnesylated progerin in transfected cells leads to a redistribution of lamin A and lamin C away from the nuclear envelope into intranuclear foci but does not significantly affect the localization of endogenous lamin B1 at nuclear envelope. There is a similar redistribution of lamin A and lamin C into intranuclear foci in transfected cells expressing progerin in which protein farnesylation is blocked by treatment with a protein farnesyltransferase inhibitor. Blocking farnesylation of progerin can lead to a redistribution of normal A-type lamins away from the inner nuclear envelope. This may have implications for using drugs that block protein prenylation to treat children with Hutchinson-Gilford progeria syndrome. These findings also provide additional evidence that A-type and B-type lamins can form separate microdomains within the nucleus. PMID:22895092

  3. A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.

    Science.gov (United States)

    Cecconi, Massimiliano; Forzano, Francesca; Rinaldi, Rosanna; Cappellacci, Sandra; Grammatico, Paola; Faravelli, Francesca; Dagna Bricarelli, Franca; Di Maria, Emilio; Grasso, Marina

    2008-05-01

    The molecular diagnosis of fragile X syndrome relies on the detection of the pathogenic CGG repeat expansion in the FMR1 gene. Deletions and point mutations have occasionally been reported. Rare polymorphisms might mimic a deletion by Southern blot analysis, leading to false-positive results. We describe a novel rare nucleotide substitution within the CGG repeat. The proband was a woman with a positive family history of mental retardation. Southern blot analysis showed an additional band consistent with a deletion in the region detected by the StB12.3 probe. Sequencing of this region revealed a G>C transversion that interrupts the CGG repeat and introduces an EagI site. The same variant was observed in both the healthy son and father of the proband, supporting the hypothesis that the nucleotide substitution is a silent polymorphism, the frequency of which we estimated to be less than 1% in the general population. These findings argue for a pathogenic role of nucleotide variants within the CGG repeat and suggest possible consequences of unexpected findings in the molecular diagnostics of fragile X syndrome. Thus, although the sequence context of a single nucleotide substitution may not predict possible effects on mRNA or protein function, a specific change in the higher order structures of DNA or mRNA may be functionally relevant in the pathological phenotype.

  4. A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a “Pseudodeletion” and Is Not Associated with the Fragile X Syndrome Phenotype

    Science.gov (United States)

    Cecconi, Massimiliano; Forzano, Francesca; Rinaldi, Rosanna; Cappellacci, Sandra; Grammatico, Paola; Faravelli, Francesca; Dagna Bricarelli, Franca; Di Maria, Emilio; Grasso, Marina

    2008-01-01

    The molecular diagnosis of fragile X syndrome relies on the detection of the pathogenic CGG repeat expansion in the FMR1 gene. Deletions and point mutations have occasionally been reported. Rare polymorphisms might mimic a deletion by Southern blot analysis, leading to false-positive results. We describe a novel rare nucleotide substitution within the CGG repeat. The proband was a woman with a positive family history of mental retardation. Southern blot analysis showed an additional band consistent with a deletion in the region detected by the StB12.3 probe. Sequencing of this region revealed a G>C transversion that interrupts the CGG repeat and introduces an EagI site. The same variant was observed in both the healthy son and father of the proband, supporting the hypothesis that the nucleotide substitution is a silent polymorphism, the frequency of which we estimated to be less than 1% in the general population. These findings argue for a pathogenic role of nucleotide variants within the CGG repeat and suggest possible consequences of unexpected findings in the molecular diagnostics of fragile X syndrome. Thus, although the sequence context of a single nucleotide substitution may not predict possible effects on mRNA or protein function, a specific change in the higher order structures of DNA or mRNA may be functionally relevant in the pathological phenotype. PMID:18403614

  5. Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Göke Burkhard

    2006-05-01

    Full Text Available Abstract Background Adiponectin acts as an antidiabetic, antiinflammatory and antiatherogenic adipokine. These effects are assumed to be mediated by the recently discovered adiponectin receptors AdipoR1 and AdipoR2. Aim The purpose of this study was to determine whether variations in the AdipoR1 and AdipoR2 genes may contribute to insulin resistance, dyslipidemia and inflammation. Methods We sequenced all seven coding exons of both genes in 20 unrelated German subjects with metabolic syndrome and tested genetic variants for association with glucose, lipid and inflammatory parameters. Results We identified three AdipoR2 variants (+795G/A, +870C/A and +963C/T in perfect linkage disequilibrium (r2 = 1 with a minor allele frequency of 0.125. This haplotype was associated with higher plasma adiponectin levels and decreased fasting triglyceride, VLDL-triglyceride and VLDL-cholesterol levels. No association, however, was observed between the AdipoR2 SNP cluster and glucose metabolism. Conclusion To our knowledge, this is the first study to identify an association between genetic variants of the adiponectin receptor genes and plasma adiponectin levels. Furthermore, our data suggest that AdipoR2 may play an important role in triglyceride/VLDL metabolism.

  6. 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

  7. Avoidance of a potential tracheoinnominate fistula by innominate artery re-implantation in a four year old girl with tracheostomy dependence and Pfeiffer syndrome.

    Science.gov (United States)

    Olson, Michael D; Boesch, R Paul; Duncan, Audra A; Cofer, Shelagh A

    2016-02-01

    A 4 year old tracheostomy dependent girl with Pfeiffer syndrome was noted on bronchoscopy to have a pulsatile tracheostomal mass. CT chest angiography was consistent with the innominate artery crossing anterior to the trachea and superior to the sternal notch. The patient underwent reimplantation of the innominate artery via a median sternotomy approach. Tracheoinnominate fistula is a potentially devastating complication of tracheostomy. We report discovery of a near tracheoinnominate fistula in order to highlight the importance of regular interval surveillance endoscopy in tracheostomy dependent children and to discuss a preventative surgical intervention employed in prevention of this potentially devastating complication.

  8. Painful Horner syndrome due to arteritis of the internal carotid artery

    NARCIS (Netherlands)

    Bollen, AE; Krikke, AP; de Jager, AEJ

    1998-01-01

    A 44-year-old man presented with painful Horner syndrome: severe periorbital pain, ptosis, and miosis of his right eye, with intact facial sweating. Lymphadenitis at the right side of his neck preceded the symptoms. MRI and magnetic resonance angiography showed thickening of the right internal carot

  9. 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

    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...

  10. Giant saphenous vein graft pseudoaneurysm to right posterior descending artery presenting with superior vena cava syndrome

    Institute of Scientific and Technical Information of China (English)

    Andres; Vargas-Estrada; Dianna; Edwards; Mohammad; Bashir; James; Rossen; Firas; Zahr

    2015-01-01

    Saphenous vein grafts(SVG) pseudoaneurysms,especially giant ones,are rare and occur as a late complication of coronary artery bypass grafting. This condition affects both genders and typically occurs within the sixth decade of life. The clinical presentation ranges from an asymptomatic incidental finding on imaging studies to new onset angina,dyspnea,myocardial infarction or symptoms related to compression of neighboring structures. An 82-year-old woman presented with acute onset back pain,dyspnea and was noted to have significantly engorged neck veins. In the emergency department,a chest computed tomographic angiogram with intravenous contrast revealed a ruptured giant bilobed SVG pseudoaneurysm to the right posterior descending artery(RPDA). This imaging modality also demonstrated compression of the superior vena cava(SVC) by the SVG pseudoaneurysm. Coronary angiogram with bypass study was performed to establish the patency of this graft. Endovascular coiling and embolization of the SVG to RPDA was initially considered but disfavored after the coronary angiogram revealed preserved flow from the graft to this arterial branch. After reviewing the angiogram films,a surgical strategy was favored over a percutaneous intervention with a Nitinol self-expanding stent since the latter would have not addressed the superior vena cava compression caused by the giant pseudoaneurysm. Intraoperative transesophageal echocardiogram demonstrated SVCcompression by the giant pseudoaneurysm cranial lobe. Our patient underwent surgical ligation and excision of the giant pseudoaneurysm and the RPDA was regrafted successfully. In summary,saphenous vein grafts pseudoaneurysms can be life-threatening and its therapy should be guided based on the presence of mechanical complications,the patency of the affected vein graft and the involved myocardial territory viability.

  11. 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.

  12. Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease

    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 ...

  13. 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.

  14. Soluble CD40 ligand is associated with angiographic severity of coronary artery disease in patients with acute coronary syndrome

    Institute of Scientific and Technical Information of China (English)

    Zhao Wei; Zhang Fan; Li Zijian; Yu Haiyi; Li Zongshi; Gao Wei

    2014-01-01

    Background Recently,studies have disclosed soluble CD40 ligand (sCD40L) during atherosclerosis development and plaque destabilization.The objective of the present study was to test the hypothesis that sCD40L levels are higher in acute coronary syndrome (ACS) patients with a greater extent of angiographic coronary involvement.Methods This cross-sectional study examined ACS patients who underwent coronary angiography by measuring their sCD40L levels.In order to estimate the serum levels of sCD40L,10 ml of peripheral venous blood was drawn within 24 hours of admission.sCD40L levels were measured using an enzyme-linked immunosorbent assay (ELISA,RapidBio,West Hills,CA,USA).Demographic data,presence of concomitant diseases,ACS characteristics,and angiographic findings were evaluated.A review of medical records and patient interviews were conducted to assess coronary risk factors.And the severity of coronary artery disease was evaluated using the Gensini score index.Results Two hundred and eighty-nine patients were included in the study,of whom 186 were male,with an average age of 64.1±10.0 years.Median sCD40L levels were 1.7 ng/ml (0.3-7.3 ng/ml) and Gensini scores were 50 (0-228).After adjusting for demographic variables and cardiovascular risk factors,the Gensini score was associated with the natural logarithm of the sCD40L level (Coefficient b=0.002,95% CI 0.000-0.003,P=0.029).Conclusion sCD40L levels were independently associated with angiographic severity of coronary artery disease in patients with ACS.

  15. Controlateral cavernous syndrome, brainstem congestion and posterior fossa venous thrombosis with cerebellar hematoma related to a ruptured intracavernous carotid artery aneurysm.

    Science.gov (United States)

    Aldea, Sorin; Guedin, Pierre; Roccatagliata, Luca; Boulin, Anne; Auliac, Stéphanie; Dupuy, Michel; Cerf, Charles; Gaillard, Stéphan; Rodesch, Georges

    2011-06-01

    Intracavernous carotid artery aneurysms (ICCAs) are rarely associated with life-threatening complications. We describe a 55-year-old woman who, after the rupture of an intracavernous carotid artery aneurysm, presented with a contralateral cavernous sinus syndrome and severe posterior fossa and spinal cord symptoms. Following parent artery occlusion, thrombosis of the posterior fossa and spinal cord veins caused a progressive worsening of the neurological status to a "locked-in" state. The patient fully recovered with anticoagulation therapy. Comprehension of the pathophysiological mechanism associated with the rupture of ICCA and early diagnosis of the related symptoms are essential in order to plan a correct treatment that includes the management of the aneurysm rupture and of possible complications related to venous thrombosis.

  16. Coronary Artery Calcification Is Often Unreported in CT Pulmonary Angiograms in Patients With Suspected Pulmonary Embolism: An Opportunity to Improve Diagnosis of Acute Coronary Syndrome

    OpenAIRE

    Johnson, Patrick Connor

    2015-01-01

    Objective: In patients with suspected pulmonary thromboembolism (PTE), coronary artery calcification (CAC) can be an incidental finding in CT pulmonary angiograms. We evaluated the frequency of unreported CAC and its association with diagnosis of acute coronary syndrome (ACS). Methods: The data of 469 consecutive patients who were referred to the emergency radiology department for CT pulmonary angiography because of suspicion for PTE were reviewed. Radiology reports were rechecked, and pos...

  17. [A case report of successful surgical management for a combined wound of the neck with a rare variant of an injury of the vertebral artery].

    Science.gov (United States)

    Zotov, S P; Zaĭtsev, S S; Fastakovskiĭ, V V; Orliakhin, A V; Chistiakova, A S

    2010-01-01

    Presented herein is a clinical case report regarding successful surgical management of a male patient presenting with a concomitant injury of the neck and involvement of the second portion of the contralateral vertebral artery.

  18. Current Research Situation of Splenic Artery Steal Syndrome%脾动脉盗血综合征的研究现状

    Institute of Scientific and Technical Information of China (English)

    刘琪

    2011-01-01

    Splenic artery steal syndrome,which may be one of the causes of continued liver dysfunction in patients with portal hypertension and patients with bile duct injury after liver transplantation, is a relatively new concept in the field. Correction of the splenic artery steal syndrome has a certain clinical value. Here is to review on the mechanism, current research status, diagnosis methods and treatment solutions etc. Of splenic artery steal syndrome.%脾动脉盗血综合征是门静脉高压症及肝移植研究领域较新的概念,可能是门静脉高压症患者持续肝功能损害及肝移植术后患者出现胆管损伤等并发症的病因之一.纠正脾动脉盗血综合征有一定的临床价值,在此就脾动脉盗血综合征发生机制、研究现状、诊断方法及治疗方案等综述.

  19. Acute episode of cyclic vomiting syndrome preceded by arterial hypertension – Case presentation and review.

    Science.gov (United States)

    Keller, K; Desuki, A; Hobohm, L; Münzel, T; Ostad, M A

    2015-10-01

    Cyclic vomiting syndrome (CVS) is a functional disorder with recurrent episodes of vomiting. Between these episodes patients recover to well-being. Lack of awareness often leads to a delay in making the diagnosis. The diagnosis is based on a typical medical history and exclusion of other causes. We present a case report of a middle-aged patient who had recurrent episodes of vomiting for 12 years coinciding with hypertension. After excluding other causes, CVS was diagnosed. The episodes of acute vomiting were stopped by administration of antiemetic and sedative drugs and urapidil reduced the hypertension. Treatment with sedatives stops vomiting caused by the emetic centre of the central nervous system.

  20. Pulmonary Artery Embolotherapy in a Patient with Type I Hepatopulmonary Syndrome after Liver Transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hae Won; Suh, Kyung Suk; Kim, Joo Hyun; Shin, Woo Young; Yi, Nam Joon; Jae, Hwan Jun; Chung, Jin Wook; Oh, So Won; Lee, Kuhn Uk [Konkuk University College of Medicine, Seoul (Korea, Republic of); Kang, Keon Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2010-08-15

    Although liver transplantation (LT) is the only effective treatment option for hepatopulmonary syndrome (HPS), the post-LT morbidity and mortality have been high for patients with severe HPS. We performed post-LT embolotherapy in a 10-year-old boy who had severe type I HPS preoperatively, but he failed to recover early from his hypoxemic symptoms after an LT. Multiple embolizations were then successfully performed on the major branches that formed the abnormal vascular structures. After the embolotherapy, the patient had symptomatic improvement and he was discharged without complications

  1. Metformin, arterial function, intima-media thickness and nitroxidation in metabolic syndrome: the mefisto study.

    Science.gov (United States)

    Meaney, Eduardo; Vela, Agustín; Samaniego, Virginia; Meaney, Alejandra; Asbún, Juan; Zempoalteca, Juan-Carlos; Elisa, Zárate N; Emma, Mendoza N; Guzman, Martin; Hicks, Juan; Ceballos, Guillermo

    2008-08-01

    1. Metabolic syndrome (MS) is one of the greatest public health problems in Mexico, where more than 75% of adults in urban populations are overweight or obese. Metabolic syndrome has several comorbidities, which result in a high cardiometabolic risk. 2. Some of the vasopathogenic phenomena in MS are caused by nitroxidant stress, secondary to cardiometabolic dysfunction. 3. The action of metformin to diminish or control MS remains a matter of debate. 4. In the present study, 60 patients with at least three diagnostic criteria for MS were divided into two groups. Both groups received similar dietary counselling, but one group was given 850 mg metformin daily. 5. The variables assessed were body mass index, waist circumference, systolic and diastolic blood pressures (SBP and DBP, respectively), total cholesterol (TC), high- and low-density lipoprotein-cholesterol, triglycerides (TG), fasting glucose, nitroxidant metabolites (free carbonyls, malondialdehyde, dityrosines and advanced oxidative protein products (AOPP)), nitric oxide (NO), carotid vascular stiffness, carotid intima-media thickness (IMT) and C-reactive protein (CRP). 6. After 1 year follow up, both groups reported weight loss, as well as decreases in waist circumference, SBP and DBP. 7. Patients on metformin exhibited reductions in TC and IMT and there were marked changes in nitroxidation: levels of carbonyls, dityrosines and AOPP were reduced, whereas those of NO were increased, indicating better endothelial function. In addition, in patients given metformin, CRP levels decreased. 8. In conclusion, metformin has a considerable beneficial effect on nitroxidation, endothelial function and IMT in patients with MS.

  2. Gender differences in the prevalence and management of metabolic syndrome and its components in patients with peripheral artery disease.

    Science.gov (United States)

    Nael, Raha; Montgomery, Polly S; Scott, Kristy J; Blevins, Steve M; Gardner, Andrew W

    2011-11-01

    We compared the prevalence and management of metabolic syndrome (MetS) and its components in men and women with peripheral artery disease (PAD). A total of 70 men and 70 women with PAD were evaluated for presence of MetS. There was no significant gender difference in presence of MetS (P = .399) and the number of MetS components (P = .411). Among PAD patients with each MetS component, there was no significant gender difference in the use (P = .617) and number (P = .716) of blood pressure medications, the use (P = .593) and number (P = .591) of lipid-lowering medications, and the number (P = .155) of diabetic medications. Significantly more women were treated with diabetic medications compared with men (85 vs 57%, P = .026). The prevalence and management of MetS and its components was similar between men and women with PAD, except that more women were treated for diabetes. Patients with PAD having MetS did not receive optimal medical management.

  3. The origin of the extra chromosome 21 in Down syndrome. Studies of fluorescent variants and satelite association in 26 informative families.

    Science.gov (United States)

    Hansson, A; Mikkelsen, M

    1978-01-01

    Studies of fluorescence and other chromosomal variants were informative in 26 out of 72 families. Maternal nondisjunction was found in 19 and paternal in 7 cases. Satellite association studies of these parents and 94 controls from the same age group showed a highly significant increase in the satellite association index (AI) for chromosome 21 in the parents where the nondisjunctional event had taken place. The AI was also higher for chromosome 14. In addition, the parents who produced the normal gametes had significantly higher AI's for some acrocentrics than the controls. Exogenous factors increasing satellite association cannot be ruled out. The number of 21-21 association was significantly increased in the parents with nondisjunction in meiosis 1. The results indicate that satellite association may play a role in the etiology of Down syndrome.

  4. Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome

    Directory of Open Access Journals (Sweden)

    Alysse J. Sever, MD

    2015-12-01

    Full Text Available A male infant was born with a bilateral cleft lip and/or palate, absent nasal structures, left anophthalmos, right coloboma, and bilateral fifth digit clinodactly. Brain magnetic resonance imaging revealed severe asymmetric hydrocephalus, absent corpus callosum, a suprasellar mass with a high riding third ventricle, and no pituitary gland. He had a normal male karyotype and normal prenatal laboratory testing. He had no significant family history and no renal, vertebral, gastrointestinal, or cardiac malformations. This combination of central nervous system findings, ocular and craniofacial abnormalities, a normal karyotype, and limited skeletal abnormalities to our knowledge has only been previously described once in the literature in association with a disruption in Pax and Sonic Hedgehog protein pathways, and we conclude this patient represents a variant of this described syndrome.

  5. 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

  6. 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.

  7. Androgen levels and metabolic parameters are associated with a genetic variant of F13A1 in women with polycystic ovary syndrome.

    Science.gov (United States)

    Schweighofer, N; Lerchbaum, E; Trummer, O; Schwetz, V; Pilz, S; Pieber, T R; Obermayer-Pietsch, B

    2012-08-01

    The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism, is one of the most common hormonal disorders among premenopausal women and is associated with infertility, obesity, and insulin resistance. Accumulating evidence suggests a role of the blood coagulation factor gene F13A1 in obesity (GeneBank ID: NM_000129.3). The aim of this study was to investigate the association of intronic allelic variants of the F13A1 gene with PCOS susceptibility and metabolic parameters in lean and obese PCOS women. In a case-control study, we determined an intronic F13A1 single nucleotide polymorphism (SNP) (dbSNP ID: rs7766109) in 585 PCOS and 171 control women and tested for PCOS susceptibility and associations with anthropometric, metabolic and hormonal parameters. Genotype frequencies of the F13A1 SNP rs7766109 were equivalent in PCOS and control women. In PCOS women, F13A1 gene variants were significantly associated with body mass index (BMI) (p=0.013), systolic blood pressure (p=0.042), insulin response (AUCins) (p=0.015), triglycerides (TG) (p=0.001), and high density lipoprotein cholesterol (HDL) (p=0.012). In the subgroup of obese PCOS women free androgen index (FAI), free testosterone and sex hormone binding globulin (SHBG) as well as glucose measurements showed a significantly different pattern across F13A1 gene variants (p=0.043; p=0.039 and p=0.013, respectively). We report for the first time an association of the F13A1 SNP rs7766109 with BMI, androgens, and insulin resistance in PCOS women. Further studies are needed to confirm our findings and to evaluate whether F13A1 is causally involved in the pathogenesis of PCOS related metabolic and hormonal disturbances.

  8. Mechanical characteristics of the pulmonary artery in beagle dogs with hepatopulmonary syndrome and portopulmonary hypertension.

    Science.gov (United States)

    Yan, Guozhen; He, Junfeng; Yu, Yueli; Liu, Yang; Yuan, Yanfen; Guo, Zhiyong

    2016-01-01

    The continuous changes in pulmonary hemodynamic properties in hepatopulmonary syndrome (HPS) and portopulmonary hypertension (PoPH) have not been fully characterized in large animal models of HPS and PoPH. Beagle dog models of HPS and PoPH were induced by chronic common bile duct ligation and Sephadex microspheres, respectively. The model was validated by catheter examination and pathological analyses, and the hemodynamic characteristics of the models were observed. The results revealed that the cross-sectional area of the blood vessel was significantly increased in HPS models, but it was significantly decreased in the PoPH models. Furthermore, the resistance of pulmonary circulation was elevated in models of HPS, but it was decreased in models of PoPH. The present findings renew the traditional view that pulmonary hypertension is due to the enhanced peripheral resistance.

  9. 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.

  10. Bilateral anterior tarsal tunnel syndrome variant secondary to extensor hallucis brevis muscle hypertrophy in a ballet dancer: a case report.

    Science.gov (United States)

    Tennant, Joshua N; Rungprai, Chamnanni; Phisitkul, Phinit

    2014-12-01

    We present a case of bilateral anterior tarsal tunnel syndrome secondary EHB hypertrophy in a dancer, with successful treatment with bilateral EHB muscle excisions for decompression. The bilateral presentation of this case with the treatment of EHB muscle excision is the first of its type reported in the literature.

  11. 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 ...

  12. Association of gene variants with lipid levels in response to fenofibrate is influenced by metabolic syndrome status

    Science.gov (United States)

    Fenofibrate therapy reduces serum triglycerides (TG) and increases high-density lipoprotein-cholesterol (HDL-C) and thus addresses the atherogenic dyslipidemia associated with metabolic syndrome (MetS). Our hypothesis is that genetic factors contribute to the variability of lipid response to fenofib...

  13. 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.

  14. Impact of inherited genetic variants associated with lipid profile, hypertension, and coronary artery disease on the risk of intracranial and abdominal aortic aneurysms

    NARCIS (Netherlands)

    Hof, F.N. van 't; Ruigrok, Y.M.; Baas, A.F.; Kiemeney, L.A.L.M.; Vermeulen, H.H.M.; Uitterlinden, A.G.; Hofman, A.; Rivadeneira, F.; Rinkel, G.J.; Bakker, P.I. de

    2013-01-01

    BACKGROUND: Epidemiological studies show that an unfavorable lipid profile and coronary artery disease (CAD) are risk traits for abdominal aortic aneurysms (AAAs) but not for intracranial aneurysms (IAs), and that hypertension is a main risk trait for IAs but not for AAAs. To evaluate these observat

  15. 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.

  16. Inflammation in coronary artery diseases

    Institute of Scientific and Technical Information of China (English)

    LI Jian-jun

    2011-01-01

    The concept that atherosclerosis is an inflammation has been increasingly recognized,and subsequently resulted in great interest in revealing the inflammatory nature of the atherosclerotic process.More recently,a large body of evidence has supported the idea that inflammatory mechanisms play a pivotal role throughout all phases of atherogenesis,from endothelial dysfunction and the formation of fatty streaks to plaque destabilization and the acute coronary events due to vulnerable plaque rupture.Indeed,although triggers and pathways of inflammation are probably multiple and vary in different clinical entities of atherosclerotic disorders,an imbalance between anti-inflammatory mechanisms and pro-inflammatory factors will result in an atherosclerotic progression.Vascular endothelial dysfunction and lipoprotein retention into the arterial intima have been reported as the earliest events in atherogenesis with which inflammation is linked.Inflammatory has also been extended to the disorders of coronary microvasculature,and associated with special subsets of coronary artery disease such as silent myocardial ischemia,myocardial ischemia-reperfusion,cardiac syndrome X,variant angina,coronary artery ectasia,coronary calcification and in-stent restenosis.Inflammatory biomarkers,originally studied to better understand the pathophysiology of atherosclerosis,have generated increasing interest among researches and clinicians.The identification of inflammatory biomarkers and cellular/molecular pathways in atherosclerotic disease represent important goals in cardiovascular disease research,in particular with respect of the development of therapeutic strategies to prevent or reverse atherosclerotic diseases.

  17. Reliability of heart period and systolic arterial pressure variabilities in women with fibromyalgia syndrome.

    Science.gov (United States)

    Andrade, Carolina Pieroni; Zamunér, Antonio Roberto; Forti, Meire; de França, Thalita Fonseca; da Silva, Ester

    2016-09-01

    The aim of this study is to define absolute and relative reliability of spectral indices of cardiovascular autonomic control in the supine position in women with fibromyalgia syndrome (FMS). Twenty-three women with FMS (age 48 ± 7 years) took part in the study. ECG, finger blood pressure, and respiration were continuously recorded in all participants at rest in baseline 1 (BL1) and after 15 days from BL1 (BL2). The power spectrum analysis provided two oscillatory components: low frequency (LF, 0.04-0.15 Hz) and high frequency (HF, 0.15-0.4 Hz) from the heart period (HP) variability and the LF oscillatory component from SAP variability (LFSAP). Absolute and relative reliability were rated by 95 % of the limit of random variation and intraclass correlation coefficient (ICC), respectively. No significant differences were observed between BL1 and BL2 for the spectral indices of HP and SAP variabilities. The 95 % limit of the random variation of these indices indicated that the values of repeated measurements were between 22 % higher and 0.2 % lower (more reliable parameter; average of HP variability) and 912.9 % higher and 0.2 % lower (less reliable parameter; LFSAP) than BL1. Conversely, the index of relative reliability (ICC) ranged from 0.23 to 0.70 indicating a good reliability. The spectral indices of cardiovascular autonomic control in women with FMS seem to present good relative reliability. Therefore, these indices can be useful as parameters to quantify if a variation was consistent and accurate in the retest besides adding crucial information for clinical research and clinical evaluation of FMS patients.

  18. 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

  19. 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.

  20. Predictors of Subclinical Cardiovascular Disease in Women with Polycystic Ovary Syndrome: Interrelationship of Dyslipidemia and Arterial Blood Pressure

    Directory of Open Access Journals (Sweden)

    Djuro Macut

    2015-01-01

    Full Text Available Background. Women with polycystic ovary syndrome (PCOS could develop subclinical atherosclerosis during life. Purpose. To analyze cardiovascular risk (CVR factors and their relation to clinical markers of cardiovascular disease (CVD in respect to their age. Material and Methods. One hundred women with PCOS (26.32±5.26 years, BMI: 24.98±6.38 kg/m2 were compared to 50 respective controls. In all subjects, total cholesterol (TC, HDL-C, LDL-C, triglycerides, TC/HDL-C and TG/HDL-C ratios, glucose, insulin and HOMA index, waist-to-hip ratio (WHR, systolic and diastolic blood pressure (SBP and DBP, resp., and carotid intima-media thickness (CIMT were analyzed in respect to their age and level of androgens. Results. PCOS over 30 years had higher WHR (P=0.008, SBP (P<0.001, DBP (P<0.001, TC (P=0.028, HDL-C (P=0.028, LDL-C (P=0.045, triglycerides (P<0.001, TC/HDL-C (P<0.001, and triglycerides/HDL-C (P<0.001 and had more prevalent hypertension and pronounced CIMT on common carotid arteries even after adjustment for BMI (P=0.005 and 0.036, resp.. TC/HDL-C and TG/HDL-C were higher in PCOS with the highest quintile of FAI in comparison to those with lower FAI (P=0.045 and 0.034, resp.. Conclusions. PCOS women older than 30 years irrespective of BMI have the potential for early atherosclerosis mirrored through the elevated lipids/lipid ratios and through changes in blood pressure.

  1. Efficacy of extracranial-intracranial bypass for progressive middle cerebral artery occlusion associated with active Sjögren's syndrome: case report.

    Science.gov (United States)

    Sakata, Hiroyuki; Fujimura, Miki; Sato, Kenichi; Shimizu, Hiroaki; Tominaga, Teiji

    2014-09-01

    Sjögren syndrome affecting the major cerebral arteries is rare, and an optimal therapeutic strategy to counteract such a lesion has not yet been established. We herein report a case of a 39-year-old woman with a history of primary Sjögren syndrome, which had previously been treated with immunosuppressive therapy, manifesting with a crescendo transient ischemic attack because of left middle cerebral artery stenosis. Despite the administration of high doses of prednisolone and azathioprine for active Sjögren syndrome, the frequency of crescendo transient ischemic attacks increased with the progression of stenosis and magnetic resonance imaging showed the development of subacute cerebral infarction. Single-photon emission computed tomography with N-isopropyl[(123)I]-p-iodoamphetamine revealed apparent hemodynamic compromise in the affected cerebral hemisphere. In light of the increased risk of further progression of cerebral infarction, we decided to perform surgical revascularization in spite of her active inflammatory condition. The patient underwent extracranial-intracranial bypass without complications and was treated with intensive immunosuppressive therapy during the perioperative period. Based on our findings, we recommend surgical revascularization for occlusive cerebrovascular disease with hemodynamic compromise in combination with intensive immunosuppressive therapy, even in the active inflammatory state of autoimmune diseases, if ischemic symptoms are medically uncontrollable.

  2. Nursing of patients with bone fascia compartment syndrome after radial artery coronary artery intervention%经桡动脉冠状动脉介入术后并发骨筋膜间室综合征的护理

    Institute of Scientific and Technical Information of China (English)

    陆月兰; 孟丽华; 高文君

    2015-01-01

    目的:总结经桡动脉冠状动脉介入术后患者发生骨筋膜间室综合征的护理对策。方法对2009年1月~2014年12月经桡动脉冠状动脉介入术后并发骨筋膜间室综合征8例患者的临床资料进行回顾性分析,总结护理对策,包括密切观察病情、肿胀的观察和护理、用药护理、疼痛护理和凝血功能监测。结果所有患者出现疼痛,穿刺前臂明显肿胀、变硬,其中6例桡动脉搏动减弱,1例手指牵拉痛,1例肌力减退,1例右上肢无力,经对症治疗后缓解。结论骨筋膜间室综合征的早期观察至关重要,高度重视患者的主诉,针对并发症产生的原因及时采取有效的护理对策,争取内科保守治疗时间,可减少患者痛苦,促进患者早日康复。%Objective To explore the causes of bone fascia compartment syndrome after radial artery coronary artery intervention and sum up the nursing experience. Method The clinical data of 8 patients with bone fascia compartment syndrome after radial artery coronary artery intervention from January 2009 to December 2014 were analyzed retrospectively to summarize the nursing countermeasures, including close observation of illness, swelling and pain nursing, medication and blood and monitoring of coagulation functions. Result The forearm of all patients were painful, swollen and enlarged, 6 of them with radial pulse abating,1 with finger pulling pain, 2 with muscle decreasing. Conclusions The early observation and treatment of bone fascia compartment syndrome are critical. Great importance to the complaints of patients should be attached in view of the causes of complications so that effective nursing strategy can be taken to save time of conservative treatment, alleviate the patients'pains and promote their early recovery.

  3. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

    OpenAIRE

    Caparrós-Martín, José A.; De Luca, Alessandro; Cartault, François; Aglan, Mona; Temtamy, Samia; Otaify, Ghada A.; Mehrez, Mennat; VALENCIA, MARÍA; Vázquez, Laura; Alessandri, Jean-Luc; Nevado, Julián; Rueda-Arenas, Inmaculada; Karen E. Heath; Digilio, Maria Cristina; Dallapiccola, Bruno

    2015-01-01

    Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe pathogenic splicing variants in WDR35, encoding retrograde intraflagellar transport protein 121 (IFT121), in three families with a clinical diagnosis of EvC but having a distinctive phenotype. To understand why WDR35 variants result in EvC, we analysed EVC, EVC2 and Smoothened (SMO) in IFT-A deficient ce...

  4. [Ruptured aneurysm at the anterior wall of the internal carotid artery in a patient with systemic lupus erythematosus and secondary antiphospholipid syndrome].

    Science.gov (United States)

    Chonan, Masashi; Fujimura, Miki; Inoue, Takashi; Tominaga, Teiji

    2011-07-01

    A 60 year-old woman, who had a 45-year history of systemic lupus erythematosus (SLE) and secondary antiphospholipid syndrome, presented with subarachnoid hemorrhage due to a ruptured aneurysm at the anterior wall of the non-branching site of the right internal carotid artery. She underwent radical surgery on the day of onset. In light of the possibility of arterial dissection, we performed extracranial-intracranial bypass prior to careful exploration of the aneurysm. Based on the finding of saccular aneurysm, she ultimately underwent neck clipping of the aneurysm without complication. Postoperative course was uneventful, and she did not suffer from cerebral vasospasm. We recommend early surgical intervention in patients with aneurysmal SAH associated with SLE, while intrinsic pathologies of SLE such as fragile vascular structure and the risk for ischemic complication should be considered.

  5. Genetic Variants of BMP2 and Their Association with the Risk of Non-Syndromic Tooth Agenesis

    Science.gov (United States)

    Wang, Yuting; Gu, Ning; Ma, Lan; Xu, Min; Ma, Junqing; Zhang, Weibing; Pan, Yongchu; Wang, Lin

    2016-01-01

    Non-syndromic tooth agenesis (or non-syndromic congenitally missing tooth) is one of the most common congenital defects in humans affecting the craniofacial function and appearance. Single nucleotide polymorphisms (SNPs) have been associated with an individual’s susceptibility to these anomalies. The aim of the present study was therefore to investigate the roles of the potentially functional SNPs of BMP2 in the occurrence of tooth agenesis. Overall, four potentially functional SNPs of BMP2 (rs15705, rs235768, rs235769 and rs3178250) were selected, and their associations with the susceptibility of tooth agenesis were evaluated in a case-control study of 335 non-syndromic tooth agenesis cases and 444 healthy controls. The SNPs rs15705 and rs3178250 were found to be associated with an individual’s risk of tooth agenesis (P = 0.046 and P = 0.039, respectively). Both SNPs showed an increased risk of mandibular incisor agenesis (rs15705, AA/AC vs. CC = 1.58, 95% CI = [1.06–2.34], P = 0.024; rs3178250, TT/TC vs. CC = 1.60, 95% CI = [1.08–2.37], P = 0.020). Bioinformatics analysis indicated that these two SNPs located at the 3’-untranslated region (3’-UTR) of BMP2 might alter the binding ability of miR-1273d and miR-4639-5p, respectively, which was confirmed by luciferase activity assays in the 293A and COS7 cell lines (P < 0.001 in 293A and P < 0.01 in COS7 for miR-1273d; and P < 0.001 in both cells for miR-4639-5p). Furthermore, BMP2 mRNA expression decreased after transfecting either miR-1273d or miR-4639-5p into these two cell lines (P < 0.01 in 293A and P < 0.001 in COS7 for miR-1273d, and P < 0.01 in both cell lines for miR-4639-5p). Taken together, our findings indicate that rs15705 and rs317250 are associated with the susceptibility of non-syndromic tooth agenesis by possibly affecting miRNAs and mRNA interaction. PMID:27362534

  6. Genetic Variants of BMP2 and Their Association with the Risk of Non-Syndromic Tooth Agenesis.

    Directory of Open Access Journals (Sweden)

    Yun Lu

    Full Text Available Non-syndromic tooth agenesis (or non-syndromic congenitally missing tooth is one of the most common congenital defects in humans affecting the craniofacial function and appearance. Single nucleotide polymorphisms (SNPs have been associated with an individual's susceptibility to these anomalies. The aim of the present study was therefore to investigate the roles of the potentially functional SNPs of BMP2 in the occurrence of tooth agenesis. Overall, four potentially functional SNPs of BMP2 (rs15705, rs235768, rs235769 and rs3178250 were selected, and their associations with the susceptibility of tooth agenesis were evaluated in a case-control study of 335 non-syndromic tooth agenesis cases and 444 healthy controls. The SNPs rs15705 and rs3178250 were found to be associated with an individual's risk of tooth agenesis (P = 0.046 and P = 0.039, respectively. Both SNPs showed an increased risk of mandibular incisor agenesis (rs15705, AA/AC vs. CC = 1.58, 95% CI = [1.06-2.34], P = 0.024; rs3178250, TT/TC vs. CC = 1.60, 95% CI = [1.08-2.37], P = 0.020. Bioinformatics analysis indicated that these two SNPs located at the 3'-untranslated region (3'-UTR of BMP2 might alter the binding ability of miR-1273d and miR-4639-5p, respectively, which was confirmed by luciferase activity assays in the 293A and COS7 cell lines (P < 0.001 in 293A and P < 0.01 in COS7 for miR-1273d; and P < 0.001 in both cells for miR-4639-5p. Furthermore, BMP2 mRNA expression decreased after transfecting either miR-1273d or miR-4639-5p into these two cell lines (P < 0.01 in 293A and P < 0.001 in COS7 for miR-1273d, and P < 0.01 in both cell lines for miR-4639-5p. Taken together, our findings indicate that rs15705 and rs317250 are associated with the susceptibility of non-syndromic tooth agenesis by possibly affecting miRNAs and mRNA interaction.

  7. Síndrome do aprisionamento da artéria poplítea: relato de caso Popliteal artery entrapment syndrome: case report

    Directory of Open Access Journals (Sweden)

    Marcelo Bettega

    2011-12-01

    Full Text Available A síndrome do aprisionamento da artéria poplítea caracteriza-se pela compressão desta artéria sendo a principal causa de claudicação intermitente em jovens. Homem, 18 anos, branco, apresentava parestesia, frialdade e palidez do pé direito, iniciada 24 horas após exercício físico. Em membro inferior direito, ausência de pulsos tibial posterior e dorsal do pé. À flexão dorsal e flexão plantar forçadas, houve diminuição dos pulsos tibial posterior e dorsal do pé à esquerda. Tratado cirurgicamente, o paciente apresentou pulso em ambas as artérias. A síndrome é mais frequente em homens e a prevalência varia entre 0,16 e 3,5%. O aprisionamento da artéria poplítea tipo III é mais comum. A falta de tratamento pode levar à embolia, trombose e aneurismas pós-estenóticos. Esta síndrome deve ser lembrada como causa de dor na perna, especialmente em homens jovens e de prática esportiva intensa.Popliteal artery entrapment syndrome is the compression of the popliteal artery and is the main cause of intermittent claudication in young patients. An 18-year-old man was admitted at our service complaining of right foot paresthesia, coldness, and pallor that appeared 24 hours after physical activity. Posterior tibial and dorsal artery of foot pulses were not present in right lower limb. Diminished posterior tibial and dorsal artery of the foot pulses were found in left lower limb at dorsal flexion and forced plantar flexion. After surgery, both pulses were present. This syndrome is more frequent in men and its prevalence varies between 0.16 and 3.5%. Popliteal artery entrapment type III is most common. Non-treated entrapment can lead to embolism, thrombosis and post-stenotic aneurysms. The syndrome must be considered as a cause of lower limb pain specially in young men with intense sport practice history.

  8. Metabolic syndrome is associated with change in subclinical arterial stiffness - A community-based Taichung Community Health Study

    Directory of Open Access Journals (Sweden)

    Lin Wen-Yuan

    2011-10-01

    Full Text Available Abstract Background The aim of this study was to evaluate the effect of MetS on arterial stiffness in a longitudinal study. Methods Brachial-ankle pulse wave velocity (baPWV, a measurement interpreted as arterial stiffness, was measured in 1518 community-dwelling persons at baseline and re-examined within a mean follow-up period of 3 years. Multivariate linear regression with generalized estimating equations (GEE were used to examine the longitudinal relationship between MetS and its individual components and baPWV, while multivariate logistic regression with GEE was used to examine the longitudinal relationship between MetS and its individual components and the high risk group with arterial stiffness. Results Subjects with MetS showed significantly greater baPWV at the end point than those without MetS, after adjusting for age, gender, education, hypertension medication and mean arterial pressure (MAP. MetS was associated with the top quartile of baPWV (the high-risk group of arterial stiffness, adjusted odds ratio [95% confidence interval] 1.52 [1.21-1.90], and a significant linear trend of risk for the number of components of MetS was found (p for trend Conclusions MetS affects the subject's progression to arterial stiffness. Arterial stiffness increased as the number of MetS components increased. Management of MetS is important for preventing the progression to advanced arterial stiffness.

  9. Treatment of hypertension and metabolic syndrome: lowering blood pressure is not enough for organ protection, new approach-arterial destiffening.

    Science.gov (United States)

    Zimlichman, Reuven

    2014-10-01

    Cardiovascular risk factors (CVRFs) have been shown to induce end organ damage. Until now, the main approach to reduce CVRF-induced end organ damage was by normalization of CVRFs; this approach was found effective to reduce damage and cardiovascular (CV) events. However, a residual risk always remained even when CVRFs were optimally balanced. An additional risk factor which has an immense effect on the progression of end organ damage is aging. Aging is accompanied by gradual stiffening of the arteries which finally leads to CV events. Until recently, the process of arterial aging was considered as unmodifiable, but this has changed. Arterial stiffening caused by the aging process is similar to the changes seen as a result of CVRF-induced arterial damage. Actually, the presence of CVRFs causes faster arterial stiffening, and the extent of damage is proportional to the severity of the CVRF, the length of its existence, the patient's genetic factors, etc. Conventional treatments of osteoporosis and of hormonal decline at menopause are potential additional approaches to positively affect progression of arterial stiffening. The new approach to further decrease progression of arteriosclerosis, thus preventing events, is the prevention of age-associated arterial structural changes. This approach should further decrease age-associated arterial stiffening. A totally new promising approach is to study the possibility of affecting collagen, elastin, and other components of connective tissue that participate in the process of arterial stiffening. Reduction of pulse pressure by intervention in arterial stiffening process by novel methods as breaking collagen cross-links or preventing their formation is an example of future directions in treatment. This field is of enormous potential that might be revolutionary in inducing further significant reduction of cardiovascular events.

  10. Efficacy and tolerability of currently available therapies for the mycosis fungoides and Sezary syndrome variants of cutaneous T-cell lymphoma.

    Science.gov (United States)

    Whittaker, Sean J; Foss, Francine M

    2007-04-01

    Primary cutaneous T-cell lymphomas are a heterogenous group of non-Hodgkin lymphomas. The characteristic clinicopathologic and immunophenotypic features and prognoses of the various cutaneous lymphomas have been recently described by the World Health Organization and European Organization for Research and Treatment of Cancer. Cutaneous T-cell lymphoma variants include mycosis fungoides and Sezary syndrome, which are generally associated, respectively, with indolent and aggressive clinical courses and are the subject of this review. Currently utilized treatments for cutaneous T-cell lymphoma include skin-directed therapies (topical agents such as corticosteroids, mechlorethamine, carmustine, and retinoids, phototherapy, superficial radiotherapy, and total skin electron beam therapy), systemic therapies (photophoresis, retinoids, denileukin diftitox, interferons, and chemotherapy), and stem cell transplantation (autologous and allogeneic). This review will describe recent advances in our understanding of the biology (immunologic, cytogenetic, and genetic) of cutaneous T-cell lymphomas and discuss the efficacy and tolerability of the current therapeutic options for cutaneous T-cell lymphomas. Disease progression in over 20% of patients with early stages of disease and the current lack of a definitive treatment which produces durable responses in advanced stages of disease indicates a critical unmet need in CTCL. New insights into the molecular and immunologic changes associated with cutaneous T-cell lymphomas should ultimately lead to the identification of novel therapeutic targets and the development of improved therapeutic options for patients with these malignancies.

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

    Science.gov (United States)

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

    2010-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is an accelerated aging disorder caused by mutations in LMNA leading to expression of a truncated prelamin A variant termed progerin. Whereas a farnesylated polypeptide is normally removed from the carboxyl-terminus of prelamin A during endoproteolytic processing to lamin A, progerin lacks the cleavage site and remains farnesylated. Cultured cells from human subjects with HGPS and genetically modified mice expressing progerin have nuclear morphological abnormalities, which are reversed by inhibitors of protein farnesylation. In addition, treatment with protein farnesyltransferase inhibitors improves whole animal phenotypes in mouse models of HGPS. However, improvement in nuclear morphology in tissues after treatment of animals has not been demonstrated. We therefore treated transgenic mice that express progerin in epidermis with the protein farnesyltransferase inhibitor FTI-276 or a combination of pravastatin and zoledronate to determine if they reversed nuclear morphological abnormalities in tissue. Immunofluorescence microscopy and "blinded" electron microscopic analysis demonstrated that systemic administration of FTI-276 or pravastatin plus zoledronate significantly improved nuclear morphological abnormalities in keratinocytes of transgenic mice. These results show that pharmacological blockade of protein prenylation reverses nuclear morphological abnormalities that occur in HGPS in vivo. They further suggest that skin biopsy may be useful to determine if protein farnesylation inhibitors are exerting effects in subjects with HGPS in clinical trials.

  12. 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

    discrimination improvement (IDI) added to the European SCORE for 10-year MI risk prediction. RESULTS: The GRS associated significantly with risk of incident MI (allele-dependent hazard ratio (95%CI): 1.06 (1.02-1.11), p = 0.01) but not with CAD (p = 0.39). Stratification revealed association of GRS with MI...... in men (1.06 (1.01-1.12), p = 0.02) and in individuals above the median of 45.11 years of age (1.06 (1.00-1.12), p = 0.03). There was no interaction between GRS and gender (p = 0.90) or age (p = 0.83). The GRS improved neither NRI nor IDI. CONCLUSION: The GRS of 45 GWAS identified risk variants increase...

  13. [The efficiency of combinations of Enalapril and long-acting Nifedipin and Moxonidine in patients with arterial hypertension and a metabolic syndrome].

    Science.gov (United States)

    Mananko, E I; Vorob'eva, E V; Kalashnikova, T P; Bushkova, E A; Krasnova, N M; Idrisova, E M; Vengerovskiĭ, A I; Karpov, R S; Gruzdeva, O V; Kremenko, S V

    2008-01-01

    The aim of the study was to obtain a comparative evaluation of antihypertensive efficacy, tolerability and influence of combine therapy on myocardium mass, diastolic function of a left ventricle, lipid and carbohydrate exchange in patients with arterial hypertension in metabolic syndrome. Out of 40 examined cases 20 patients took enalapril and long-acting nifedipin and 20 ones--enalapril and moxonidine. All examination were been performed before administration of drugs and 6 months after the therapy. The dynamics of indices of ambulatory blood pressure monitoring, echocardiography, cycle ergometry, anthropometry, lipid, carbohydrate exchange and tolerability of conducted therapy was been evaluated. The use of this combination of the drugs may be recommended to be included in the treatment of arterial hypertension within the bounds of metabolic syndrome, as in most of cases they promote an achievement of target blood pressure level, have a cardioprotective action, high tolerability and favorable metabolic profile. The combination of enalapril and long-acting nifedipin has a more evident antihypertensive activity but a therapy with enalapril and moxonidine has a positive effect on the indices of carbohydrate exchange.

  14. Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.

    Science.gov (United States)

    Mirzaei, Hamed; Schmidt, Kristina H

    2012-11-20

    Bloom syndrome (BS) is an autosomal recessive disorder caused by mutations in the RecQ-like DNA helicase BLM, which functions in the maintenance of genome stability. Using a humanized model of Saccharomyces cerevisiae that expresses a chimera of the N terminus of yeast Sgs1 and the C terminus of human BLM from the chromosomal SGS1 locus, we have functionally evaluated 27 BLM alleles that are not currently known to be associated with BS. We identified nine alleles with impaired function when assessed for hypersensitivity to the DNA-damaging agent hydroxyurea (HU). Six of these alleles (P690L, R717T, W803R, Y811C, F857L, G972V) caused sensitivity to HU that was comparable to known BS-associated or helicase-dead alleles, suggesting that they may cause BS and, in the heterozygous state, act as risk factors for cancerogenesis. We also identified three alleles (R791C, P868L, G1120R) that caused intermediate sensitivity to HU; although unlikely to cause BS, these partial loss-of-function alleles may increase risk for cancers or other BS-associated complications if a person is homozygous or compound heterozygous for these alleles or if they carry a known BS-associated allele.

  15. A genetic variant of HTR2C may play a role in the manifestation of Tourette syndrome.

    Science.gov (United States)

    Dehning, Sandra; Müller, Norbert; Matz, Judith; Bender, Andreas; Kerle, Irina; Benninghoff, Jens; Musil, Richard; Spellmann, Ilja; Bondy, Brigitta; Möller, Hans-Juergen; Riedel, Michael; Zill, Peter

    2010-02-01

    Gilles de la Tourette syndrome (GTS) (MIM 137580) is a complex neuropsychiatric disorder probably originating from a disturbed interplay of several neurotransmitter systems in the prefrontal-limbic-basal ganglia loop. Polygenetic multifactorial inheritance has been postulated; nevertheless, no confirmed susceptible genes have been identified yet. As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. We found a nominally significant association between both polymorphisms in the HTR2C and the GTS, which was more pronounced in male patients. Analysis of the further serotonergic polymorphisms did not reveal any significant result. A modified function of these promoter polymorphisms may contribute to the complex interplay of serotonin and dopamine and then to the manifestation of GTS.

  16. 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

    ) and genotype array data (n = 6161) for putative cLQTS genetic variants. In total, 33 of 1358 variants previously reported to associate with cLQTS were identified. Of these, 10 variants were found in 8 or more individuals. Electrocardiogram results showed normal mean QTc intervals in carriers compared with non...

  17. An evaluation of radial and ulnar artery flow characteristics in diabetic patients with carpal tunnel syndrome and the diagnostic value of ultrasonography in these patients

    Directory of Open Access Journals (Sweden)

    Ahmet Boyacı

    2014-06-01

    Full Text Available Objectives: This study aimed to research the value of ultrasonography in the diagnosis of carpal tunnel syndrome (CTS in patients with diabetes mellitus (DM and to examine the flow characteristics of the radial and ulnar arteries in diabetic patients with CTS. Methods: A total of 23 diabetic hands diagnosed with CTS from electrophysiological evaluation (DM-CTS, 47 asymptomatic diabetic hands (DM and 50 healthy hands (C as the control group were evaluated with high resolution ultrasonography. The median nerve was measured in the cross-sectional area (CSA, flattening ratio (FR and at the level of the carpal tunnel inlet [proximal (p] and the wrist crease [distal (d]. The radial and ulnar arteries were evaluated with both hands in a neutral position. Results: In the DM-CTS group, the CSA-p and CSA-d values were statistically signficantly greater compared to the DM and C groups (p0.05. The radial artery diameter was determined to be statistically significantly greater in the DM-CTS group than the C group (p<0.05. Conclusion: The median nerve CSA is significantly greater in diabetic CTS patients compared to patients with diabetes only and healthy controls. In the evaluation of CTS in diabetic patients, CSA measured with ultrasonography may be a diagnostic tool. J Clin Exp Invest 2014; 5 (2: 179-185

  18. 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.

  19. 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.

  20. 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

    Science.gov (United States)

    Linsel-Nitschke, Patrick; Götz, Anika; Erdmann, Jeanette; Braenne, Ingrid; Braund, Peter; Hengstenberg, Christian; Stark, Klaus; Fischer, Marcus; Schreiber, Stefan; El Mokhtari, Nour Eddine; Schaefer, Arne; Schrezenmeier, Jürgen; Rubin, Diana; Hinney, Anke; Reinehr, Thomas; Roth, Christian; Ortlepp, Jan; Hanrath, Peter; Hall, Alistair S.; Mangino, Massimo; Lieb, Wolfgang; Lamina, Claudia; Heid, Iris M.; Doering, Angela; Gieger, Christian; Peters, Annette; Meitinger, Thomas; Wichmann, H.-Erich; König, Inke R.; Ziegler, Andreas; Kronenberg, Florian; Samani, Nilesh J.; Schunkert, Heribert

    2008-01-01

    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 = 1.5×10−10). 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 = 2.1×10−7). 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. PMID:18714375

  1. Risk of obesity and metabolic syndrome associated with FTO gene variants discloses clinically relevant gender difference among Turks.

    Science.gov (United States)

    Guclu-Geyik, Filiz; Onat, Altan; Yuzbasıogulları, Ayse Berna; Coban, Neslihan; Can, Gunay; Lehtimäki, Terho; Erginel-Unaltuna, Nihan

    2016-06-01

    Gene variations in the fat mass- and obesity-associated gene (FTO) have shown controversial associations with obesity and metabolic syndrome (MetS) in several populations. We explored the association of FTO gene with obesity, MetS, and insulin-related parameters separately in men and women. Two SNPs in the FTO, gene rs9939609 and rs1421085, were genotyped by the Taqman System in 1967 adults (mean age of the whole group 50.1 ± 12.0; 48.4 % male). A random sample of the Turkish Adult Risk Factor cohort was cross-sectionally analyzed. Both SNPs exhibited strong linkage disequilibrium (r(2) = 0.85) and minor alleles were associated with risk of obesity in women and of MetS in men. Carriers of the rs1421085 C-allele exhibited higher body mass index (BMI) in each gender. Adjusted fasting insulin and HOMA index were significantly higher in C-allele carriers in men alone. Logistic regression analysis demonstrated significantly increased likelihood for obesity in female C-risk allele carriers (OR 1.61; 95 % CI 1.19-2.18), after adjustment for age, smoking status, alcohol usage, physical activity grade and presence of diabetes mellitus. Male C-allele carriers were at increased risk for MetS (OR 1.44; 95 % CI 1.07-1.95), adjusted for age, smoking status, alcohol consumption, and physical activity. Further adjustment for BMI attenuated the MetS risk, indicating interaction between C-allele, gender and BMI. The FTO gene in Turkish adults contributes independently to obesity in women and-by interacting with BMI-to MetS and insulin resistance in men.

  2. Norepinephrine transporter variant A457P knock-in mice display key features of human postural orthostatic tachycardia syndrome

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    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.

  3. Norepinephrine transporter variant A457P knock-in mice display key features of human postural orthostatic tachycardia syndrome.

    Science.gov (United States)

    Shirey-Rice, Jana K; Klar, Rebecca; Fentress, Hugh M; Redmon, Sarah N; Sabb, Tiffany R; Krueger, Jessica J; Wallace, Nathan M; Appalsamy, Martin; Finney, Charlene; Lonce, Suzanna; Diedrich, André; Hahn, Maureen K

    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 (NET(P/P)) was nearly abolished. NET(+/P) and NET(P/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.

  4. Effect of High-Calcium Diet on Coronary Artery Disease in Ossabaw Miniature Swine With Metabolic Syndrome

    OpenAIRE

    Phillips-Eakley, Alyssa K; McKenney-Drake, Mikaela L; Bahls, Martin; Newcomer, Sean C; Radcliffe, John S.; Wastney, Meryl E; Van Alstine, William G; Jackson, George; Alloosh, Mouhamad; Martin, Berdine R.; Sturek, Michael; Weaver, Connie M.

    2015-01-01

    Background Calcium is a shortfall essential nutrient that has been a mainstay of osteoporosis management. Recent and limited findings have prompted concern about the contribution of calcium supplementation to cardiovascular risk. A proposed mechanism is through the acceleration of coronary artery calcification. Determining causality between calcium intake and coronary artery calcification has been hindered by a lack of sensitive methodology to monitor early vascular calcium accumulation. The ...

  5. Black Raspberry Extract Increased Circulating Endothelial Progenitor Cells and Improved Arterial Stiffness in Patients with Metabolic Syndrome: A Randomized Controlled Trial.

    Science.gov (United States)

    Jeong, Han Saem; Kim, Sohyeon; Hong, Soon Jun; Choi, Seung Cheol; Choi, Ji-Hyun; Kim, Jong-Ho; Park, Chi-Yeon; Cho, Jae Young; Lee, Tae-Bum; Kwon, Ji-Wung; Joo, Hyung Joon; Park, Jae Hyoung; Yu, Cheol Woong; Lim, Do-Sun

    2016-04-01

    Administration of black raspberry (Rubus occidentalis) is known to improve vascular endothelial function in patients at a high risk for cardiovascular (CV) disease. We investigated short-term effects of black raspberry on circulating endothelial progenitor cells (EPCs) and arterial stiffness in patients with metabolic syndrome. Patients with metabolic syndrome (n = 51) were prospectively randomized into the black raspberry group (n = 26, 750 mg/day) and placebo group (n = 25) during the 12-week follow-up. Central blood pressure, augmentation index, and EPCs, such as CD34/KDR(+), CD34/CD117(+), and CD34/CD133(+), were measured at baseline and at 12-week follow-up. Radial augmentation indexes were significantly decreased in the black raspberry group compared to the placebo group (-5% ± 10% vs. 3% ± 14%, P raspberry group compared to the placebo group (19 ± 109/μL vs. -28 ± 57/μL, P raspberry group compared to the placebo group (-0.5 ± 1.4 pg/mL vs. -0.1 ± 1.1 pg/mL, P raspberry group. The use of black raspberry significantly lowered the augmentation index and increased circulating EPCs, thereby improving CV risks in patients with metabolic syndrome during the 12-week follow-up.

  6. Coronary Artery Bypass

    Directory of Open Access Journals (Sweden)

    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.

  7. 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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    Chunkit eFung

    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.

  8. Clinical and therapeutic profile of patients presenting with acute coronary syndromes who do not have significant coronary artery disease.The Platelet Glycoprotein IIb/IIIa in Unstable Angina: Receptor Suppression Using Integrilin Therapy (PURSUIT) Trial Investigators

    NARCIS (Netherlands)

    M.T. Roe (Matthew); A. Vahanian (Alec); R.A. Harrington (Robert Alex); D.M. Prosper; K.S. Pieper (Karen); E.J. Topol (Eric); D.L. Bhatt (Deepak); A.M. Lincoff (Michael); M.L. Simoons (Maarten); R.M. Califf (Robert); E.M. Ohman (Magnus); K. Karsch (Karl); M.M. Kitt (Michael); W. Ruzyllo (Witold); K.M. Akkerhuis (Martijn)

    2000-01-01

    textabstractBACKGROUND: A proportion of patients who present with suspected acute coronary syndrome (ACS) are found to have insignificant coronary artery disease (CAD) during coronary angiography, but these patients have not been well characterized. METHODS AND RESULTS: Of the 5767

  9. Is metabolic syndrome predictive of prevalence, extent, and risk of coronary artery disease beyond its components? results from the multinational coronary ct angiography evaluation for clinical outcome: An international multicenter registry (confirm) : An international multicenter registry (confirm)

    NARCIS (Netherlands)

    Ahmadi, A. (Amir); J. Leipsic (Jonathon); G.M. Feuchtner (Gudrun); H. Gransar (Heidi); Kalra, D. (Dan); R. Heo (Ran); S. Achenbach (Stephan); D. Andreini (Daniele); M. Al-Mallah (Mouaz); D.S. Berman (Daniel S.); M.J. Budoff (Matthew); F. Cademartiri (Filippo); T.Q. Callister (Tracy); H.-J. Chang (Hyuk-Jae); K. Chinnaiyan (Kavitha); B.J.W. Chow (Benjamin); R.C. Cury (Ricardo); A. Delago (Augustin); M. Gomez (Millie); M. Hadamitzky (Martin); J. Hausleiter (Jörg); N. Hindoyan (Niree); P.A. Kaufmann (Philipp); Y.-J. Kim (Yong-Jin); F.Y. Lin (Fay); E. Maffei (Erica); G. Pontone (Gianluca); G.L. Raff (Gilbert); L.J. Shaw (Leslee); T.C. Villines (Todd); A.M. Dunning (Allison M.); J.K. Min (James)

    2015-01-01

    textabstractAlthough metabolic syndrome is associated with increased risk of cardiovascular disease and events, its added prognostic value beyond its components remains unknown. This study compared the prevalence, severity of coronary artery disease (CAD), and prognosis of patients with metabolic sy

  10. Bilateral popliteal artery entrapment syndrome: case report Síndrome do aprisionamento da artéria poplítea bilateral: relato de caso

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    Fabricio Mascarenhas de Oliveira

    2008-06-01

    Full Text Available Popliteal artery entrapment syndrome occurs due to an extrinsic compression of the popliteal vessels that results in vascular damage. It is one of the most frequent causes of intermittent claudication in young patients. The authors describe a case of bilateral syndrome by anomalous position of the gastrocnemius muscle, with abnormal slip of its medial head (Rich's type III. During the operation the occluded right side was reconstructed by autologous saphenous vein bypass from femoral superficial to peroneal artery and on the left side the slip muscle was transected by posterior approach. Popliteal artery entrapment syndrome should be treated by surgery despite the degree of symptoms. Surgical treatment technique has released the vessel by extracting the muscle that caused entrapment, and reconstructing the narrow lumen bypass grafting.A síndrome do aprisionamento da artéria poplítea ocorre em função de compressão extrínseca dos vasos poplíteos, que resulta em lesão vascular. Trata-se de uma das causas mais freqüentes de claudicação intermitente em pacientes jovens. Os autores descrevem um caso de síndrome bilateral devida à posição anômala do músculo gastrocnêmio, com deslizamento de sua cabeça média (tipo III da classificação de Rich. Durante a cirurgia, o lado direito ocluído foi reconstruído por derivação da veia safena autóloga da artéria superficial femoral para a artéria peroneal e, do lado esquerdo, o músculo que sofreu o deslizamento foi secionado através de via posterior. A síndrome do aprisionamento da artéria poplítea deve ser tratada por cirurgia, independente do grau dos sintomas. A técnica de tratamento cirúrgico liberou o vaso, extraindo o músculo que causava o aprisionamento e reconstruindo o lúmen estreito por derivação.

  11. Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo Investigación de variantes génicas de canales iónicos en pacientes con síndrome del QT largo Investigation of ion channel gene variants in patients with long QT syndrome

    Directory of Open Access Journals (Sweden)

    Ernesto Curty

    2011-03-01

    ético y mejor manejo de la enfermedad. OBJETIVO: Investigación molecular y análisis computacional de variantes génicas de KCNQ1, KCNH2 y SCN5A asociadas a la SQTL en familias portadoras de la enfermedad. MÉTODOS: Las regiones codificantes de los genes KCNQ1, KCNH2 y SCN5A de pacientes con SQTL y familiares fueron secuenciadas y analizadas utilizando el software Geneious Pro®. RESULTADOS: Fueron investigadas dos familias con criterios clínicos para SQTL. La probanda de la Familia A presentaba QT C = 562 ms, Escore de Schwartz = 5,5. El genotipaje identificó la mutación G1714A en el gen KCNH2. Fue observado QT C = 521 ± 42 ms en los familiares portadores de la mutación contra QT C = 391 ± 21 ms de no portadores. La probanda de la Familia B presentaba QT C = 551 ms, Escore de Schwartz = 5. El genotipaje identificó la mutación G1600T, en el mismo gen. El análisis de los familiares reveló QT C = 497 ± 42 ms en los portadores de la mutación, contra QT C = 404 ± 29 ms en los no portadores. CONCLUSIÓN: Fueron encontradas dos variantes génicas previamente asociadas a la SQTL en dos familias con diagnóstico clínico de SQTL. En todos los familiares portadores de las mutaciones fue observada la prolongación del intervalo QT. Fue desarrollada una estrategia para identificación de variantes de los genes KCNQ1, KCNH2 y SCN5A, posibilitando el entrenamiento de personal técnico para futura aplicación en la rutina diagnóstica.BACKGROUND: The long QT syndrome (LQTS is an inherited arrhythmia syndrome with increased QT interval and risk of sudden death. Mutations in genes KCNQ1, KCNH2 and SCN5A account for 90% of cases with genotype determined, and genotyping is informative for genetic counseling and better disease management. OBJECTIVE: Molecular investigation and computational analysis of gene variants of KCNQ1, KCNH2 and SCN5A associated with LQTS, in families with the disease. METHODS: The coding regions of genes KCNQ1, KCNH2 and SCN5A in patients with LQTS and

  12. Arterial hypertension and metabolic profile in patients with polycystic ovary syndrome Hipertensão arterial e perfil metabólico em pacientes com síndrome dos ovários policísticos

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    Renata do Sacramento Monte de Oliveira

    2013-01-01

    Full Text Available PURPOSE: To evaluate parameters related with arterial pressure and metabolic profile in women with polycystic ovary syndrome (POS. METHODS: This monocentric study at the University Hospital Endocrinology Section included 60 women aged 18-45 years, 42 being diagnosed with POS and acting as 18 controls. All women were subjected to transvaginal ultrasound and monitored for arterial pressure for 24 h in the ambulatory (MAP. Venous blood samples were taken between 07.00 and 09.00, after 12 h fasting. Basal (BG and fasting glucose concentrations, total cholesterol and its fractions, triglycerides and insulin (to calculate the homeostatic assay insulin-resistance, HOMA-IR were measured. Collected data were the mean arterial blood pressure (24-h awake/sleep cycle, arterial pressure nocturnal descensus, glycemia and fasting glucose for HOMA-IR, and lipid profile. The Student's t test was used to compare homogeneous variables; the Mann-Whitney test was used to compare non-homogeneous variables; the Pearson's correlation coefficient was used to search for correlation between the variables. The c² test was used for comparison of the absence of nocturnal descensus. Significance was taken as pOBJETIVO: Avaliar os parâmetros relacionados com a pressão arterial e o perfil metabólico em portadoras de SOP. MÉTODOS: Estudo monocêntrico aberto no qual foram avaliadas 60 mulheres em idade fértil, entre 18 e 45 anos, sendo que 42 mulheres preenchiam os critérios diagnósticos para SOP, e 18 que não preenchiam critérios formaram o Grupo Controle. Todas as mulheres foram submetidas a ultrassonografia transvaginal e a monitorização ambulatorial da pressão arterial por 24 horas (MAPA. Amostras de sangue venoso foram coletadas entre 7h00min e 9h00min, após jejum prévio de 12 horas, sendo medidos glicose de jejum ou basal (GB, colesterol total e frações, triglicerídeos e insulina (para cálculo do HOMA-IR. Dados coletados: valores médios de press

  13. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

    Science.gov (United States)

    Caparrós-Martín, José A; De Luca, Alessandro; Cartault, François; Aglan, Mona; Temtamy, Samia; Otaify, Ghada A; Mehrez, Mennat; Valencia, María; Vázquez, Laura; Alessandri, Jean-Luc; Nevado, Julián; Rueda-Arenas, Inmaculada; Heath, Karen E; Digilio, Maria Cristina; Dallapiccola, Bruno; Goodship, Judith A; Mill, Pleasantine; Lapunzina, Pablo; Ruiz-Perez, Victor L

    2015-07-15

    Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe pathogenic splicing variants in WDR35, encoding retrograde intraflagellar transport protein 121 (IFT121), in three families with a clinical diagnosis of EvC but having a distinctive phenotype. To understand why WDR35 variants result in EvC, we analysed EVC, EVC2 and Smoothened (SMO) in IFT-A deficient cells. We found that the three proteins failed to localize to Wdr35(-/-) cilia, but not to the cilium of the IFT retrograde motor mutant Dync2h1(-/-), indicating that IFT121 is specifically required for their entry into the ciliary compartment. Furthermore expression of Wdr35 disease cDNAs in Wdr35(-/-) fibroblasts revealed that the newly identified variants lead to Hedgehog signalling defects resembling those of Evc(-/-) and Evc2(-/-) mutants. Together our data indicate that splicing variants in WDR35, and possibly in other IFT-A components, underlie a number of EvC cases by disrupting targeting of both the EvC complex and SMO to cilia.

  14. 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.

  15. Is metabolic syndrome predictive of prevalence, extent, and risk of coronary artery disease beyond its components? Results from the multinational coronary CT angiography evaluation for clinical outcome: an international multicenter registry (CONFIRM.

    Directory of Open Access Journals (Sweden)

    Amir Ahmadi

    Full Text Available Although metabolic syndrome is associated with increased risk of cardiovascular disease and events, its added prognostic value beyond its components remains unknown. This study compared the prevalence, severity of coronary artery disease (CAD, and prognosis of patients with metabolic syndrome to those with individual metabolic syndrome components. The study cohort consisted of 27125 consecutive individuals who underwent ≥ 64-detector row coronary CT angiography (CCTA at 12 centers from 2003 to 2009. Metabolic syndrome was defined as per NCEP/ATP III criteria. Metabolic syndrome patients (n = 690 were matched 1:1:1 to those with 1 component (n = 690 and 2 components (n = 690 of metabolic syndrome for age, sex, smoking status, and family history of premature CAD using propensity scoring. Major adverse cardiac events (MACE were defined by a composite of myocardial infarction (MI, acute coronary syndrome, mortality and late target vessel revascularization. Patients with 1 component of metabolic syndrome manifested lower rates of obstructive 1-, 2-, and 3-vessel/left main disease compared to metabolic syndrome patients (9.4% vs 13.8%, 2.6% vs 4.5%, and 1.0% vs 2.3%, respectively; p 0.05. At 2.5 years, metabolic syndrome patients experienced a higher rate of MACE compared to patients with 1 component (4.4% vs 1.6%; p = 0.002, while no difference observed compared to individuals with 2 components (4.4% vs 3.2% p = 0.25 of metabolic syndrome. In conclusion, Metabolic syndrome patients have significantly greater prevalence, severity, and prognosis of CAD compared to patients with 1 but not 2 components of metabolic syndrome.

  16. Is Metabolic Syndrome Predictive of Prevalence, Extent, and Risk of Coronary Artery Disease beyond Its Components? Results from the Multinational Coronary CT Angiography Evaluation for Clinical Outcome: An International Multicenter Registry (CONFIRM)

    Science.gov (United States)

    Ahmadi, Amir; Leipsic, Jonathon; Feuchtner, Gudrun; Gransar, Heidi; Kalra, Dan; Heo, Ran; Achenbach, Stephan; Andreini, Daniele; Al-Mallah, Mouaz; Berman, Daniel S.; Budoff, Matthew; Cademartiri, Filippo; Callister, Tracy Q.; Chang, Hyuk-Jae; Chinnaiyan, Kavitha; Chow, Benjamin; Cury, Ricardo C.; Delago, Augustin; Gomez, Millie J.; Hadamitzky, Martin; Hausleiter, Joerg; Hindoyan, Niree; Kaufmann, Philipp A.; Kim, Yong-Jin; Lin, Fay; Maffei, Erica; Pontone, Gianluca; Raff, Gilbert L.; Shaw, Leslee J.; Villines, Todd C.; Dunning, Allison; Min, James K.

    2015-01-01

    Although metabolic syndrome is associated with increased risk of cardiovascular disease and events, its added prognostic value beyond its components remains unknown. This study compared the prevalence, severity of coronary artery disease (CAD), and prognosis of patients with metabolic syndrome to those with individual metabolic syndrome components. The study cohort consisted of 27125 consecutive individuals who underwent ≥64-detector row coronary CT angiography (CCTA) at 12 centers from 2003 to 2009. Metabolic syndrome was defined as per NCEP/ATP III criteria. Metabolic syndrome patients (n=690) were matched 1:1:1 to those with 1 component (n=690) and 2 components (n=690) of metabolic syndrome for age, sex, smoking status, and family history of premature CAD using propensity scoring. Major adverse cardiac events (MACE) were defined by a composite of myocardial infarction (MI), acute coronary syndrome, mortality and late target vessel revascularization. Patients with 1 component of metabolic syndrome manifested lower rates of obstructive 1-, 2-, and 3-vessel/left main disease compared to metabolic syndrome patients (9.4% vs 13.8%, 2.6% vs 4.5%, and 1.0% vs 2.3%, respectively; p0.05). At 2.5 years, metabolic syndrome patients experienced a higher rate of MACE compared to patients with 1 component (4.4% vs 1.6%; p=0.002), while no difference observed compared to individuals with 2 components (4.4% vs 3.2% p=0.25) of metabolic syndrome. In conclusion, Metabolic syndrome patients have significantly greater prevalence, severity, and prognosis of CAD compared to patients with 1 but not 2 components of metabolic syndrome. PMID:25734639

  17. A Fatal Aortoesophageal Fistula Caused by Critical Combination of Double Aortic Arch and Nasogastric Tube Insertion for Superior Mesenteric Artery Syndrome

    Directory of Open Access Journals (Sweden)

    Tomofumi Miura

    2010-06-01

    Full Text Available Double aortic arch (DAA is a rare vascular congenital abnormality. Since a vascular ring surrounds bronchus and esophagus, any oral or nasal intubation can physically cause fatal aortoesophageal fistula (AEF. We report herein the first case of association of DAA and superior mesenteric artery (SMA syndrome and the second case of AEF caused by nasogastric intubation in an adult with DAA. A 19-year-old woman visited our hospital for nausea and vomiting. She was diagnosed with SMA syndrome by computed tomography (CT. Nasogastric intubation relieved her symptoms in 4 days. Extramural compression with top ulceration was found in esophagogastroduodenoscopy on the 5th hospital day. She suddenly showed massive hematemesis on the 12th hospital day. AEF was found by CT. Soon, she died despite of intensive care. Retrospective interview disclosed the fact that DAA was pointed out in her childhood. We conclude that intubation must be avoided in DAA and a detailed clinical interview about DAA is mandatory to avoid AEF.

  18. Effects of dietary cold-pressed turnip rapeseed oil and butter on serum lipids, oxidized LDL and arterial elasticity in men with metabolic syndrome

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    Wallenius Marja

    2010-12-01

    Full Text Available Abstract Background Rapeseed oil is the principal dietary source of monounsaturated and n-3 polyunsaturated fatty acids in the Northern Europe. However, the effect of rapeseed oil on the markers of subclinical atherosclerosis is not known. The purpose of this study was to compare the effects of dietary intake of cold-pressed turnip rapeseed oil (CPTRO and butter on serum lipids, oxidized LDL and arterial elasticity in men with metabolic syndrome. Methods Thirty-seven men with metabolic syndrome completed an open and balanced crossover study. Treatment periods lasted for 6 to 8 weeks and they were separated from each other with an eight-week washout period. Subjects maintained their normal dietary habits and physical activity without major variations. The daily fat adjunct consisted either of 37.5 grams of butter or 35 mL of VirginoR CPTRO. Participants were asked to spread butter on bread on the butter period and to drink CPTRO on the oil period. The fat adjunct was used as such without heating or frying. Results Compared to butter, administration of CPTRO was followed by a reduction of total cholesterol by 8% (p Conclusion Cold-pressed turnip rapeseed oil had favourable effects on circulating LDL cholesterol and oxidized LDL, which may be important in the management of patients at high cardiovascular risk. Trial registration ClinicalTrial.gov NCT01119690

  19. Cerebellar arteries originating from the internal carotid artery: angiographic evaluation and embryologic explanations

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    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. A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.

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    Cai, Bin; Zeng, Jiabin; Lin, Yi; Lin, Yu; Lin, WenPing; Lin, Wei; Li, Zhiwen; Wang, Ning

    2015-08-01

    Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebral artery disease. The HtrA serine protease 1 (HTRA1) gene has been identified as the causative gene of CARASIL. Here, we report a novel mutation in the HTRA1 gene in a CARASIL pedigree and explore its pathogenesis at the protein level. Subcutaneous tissue biopsy and HTRA1 gene analysis were performed in a CARASIL patient, and HTRA1 and TGF-β1 protein expression in subcutaneous tissue and cultured fibroblasts from the proband were detected by immunohistochemistry and western blotting. A 28-year-old male proband and his brother experienced recurrent stroke, hair loss and low back pain. Abnormalities in the proband were found in the elastic plate of subcutaneous small arteries, and a novel homozygous frameshift mutation (c.161_162insAG), leading to the formation of a stop codon 159 amino acids downstream of the insertion (p.Gly56Alafs*160) was detected. Reduced HTRA1 protein and increased TGF-β1 expression were detected in subcutaneous tissue and in cultured fibroblasts. A frameshift mutation in the HTRA1 gene detected in a CARASIL pedigree resulted in reduced HTRA1 protein and increased TGF-β1 expression, which may cause severe CARASIL and peripheral small arterial disease.

  1. Hypertriglyceridemia influences the degree of postprandial lipemic response in patients with metabolic syndrome and coronary artery disease: from the CORDIOPREV study.

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    Juan F Alcala-Diaz

    Full Text Available OBJECTIVE: To determine whether metabolic syndrome traits influence the postprandial lipemia response of coronary patients, and whether this influence depends on the number of MetS criteria. MATERIALS AND METHODS: 1002 coronary artery disease patients from the CORDIOPREV study were submitted to an oral fat load test meal with 0.7 g fat/kg body weight (12% saturated fatty acids, 10% polyunsaturated fatty acids, 43% monounsaturated fatty acids, 10% protein and 25% carbohydrates. Serial blood test analyzing lipid fractions were drawn at 0, 1, 2, 3 and 4 hours during the postprandial state. Total and incremental area under the curves of the different postprandial parameters were calculated following the trapezoid rule to assess the magnitude of change during the postprandial state. RESULTS: Postprandial lipemia response was directly related to the presence of metabolic syndrome. We found a positive association between the number of metabolic syndrome criteria and the response of postprandial plasma triglycerides (p<0.001, area under the curve of triglycerides (p<0.001 and incremental area under the curve of triglycerides (p<0.001. However, the influence of them on postprandial triglycerides remained statistically significant only in those patients without basal hypertriglyceridemia. Interestingly, in stepwise multiple linear regression analysis with the AUC of triglycerides as the dependent variable, only fasting triglycerides, fasting glucose and waist circumference appeared as significant independent (P<0.05 contributors. The multiple lineal regression (R was 0.77, and fasting triglycerides showed the greatest effect on AUC of triglycerides with a standardized coefficient of 0.75. CONCLUSIONS: Fasting triglycerides are the major contributors to the postprandial triglycerides levels. MetS influences the postprandial response of lipids in patients with coronary heart disease, particularly in non-hypertriglyceridemic patients.

  2. Effects of metabolic syndrome with or without obesity on outcomes after coronary artery bypass graft. A cohort and 5-year study.

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    Hushan Ao

    Full Text Available Metabolic syndrome (MetS and obesity are risk factors for cardiovascular disease, however, it remains unclear about effects of MetS with or without obesity on perioperative and long-term morbidity and mortality after coronary artery bypass graft (CABG.An observational cohort study was performed on 4,916 consecutive patients receiving isolated primary CABG in Fuwai hospital. Of all patients, 1238 patients met the inclusion criteria and were divided into three groups: control, MetS with obesity and MetS without obesity (n = 868, 76 and 294 respectively. The patient's 5-year survival and major adverse cerebral and cardiovascular events (MACCE were studied.Among all three groups, there were no significant differences in in-hospital postoperative complications, epinephrine use, stroke, ICU stay, ventilation time, atrial fibrillation, renal failure, coma, myocardial infarction, repeated revascularization, and long-term stroke. The patients in MetS without obesity group were not associated with increased perioperative or long-term morbidities and mortality. In contrast, the patients in MetS with obesity group were associated with significant increased perioperative complications including MACCE (30.26% vs. 20.75%, 16.7%, p = 0.0074 and mortality (11.84% vs. 3.74%, 3.11%, p = 0.0007 respectively. Patients in MetS with obesity group was associated with significantly increased long-term of MACCE (adjusted OR:2.040; 95%CI:1.196-3.481; P<0.05 and 5-years of mortality (adjusted HR:4.659; 95%CI:1.966-11.042; P<0.05.Patients with metabolic syndrome and obesity are associated with significant increased perioperative and long-term complications and mortality, while metabolic syndrome without obesity do not worsen outcomes after CABG.

  3. Arterial Abnormalities Leading to Tinnitus.

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    Miller, Timothy R; Serulle, Yafell; Gandhi, Dheeraj

    2016-05-01

    Tinnitus is a common symptom that usually originates in the middle ear. Vascular causes of pulsatile tinnitus are categorized by the location of the source of the noise within the cerebral-cervical vasculature: arterial, arteriovenous, and venous. Arterial stenosis secondary to atherosclerotic disease or dissection, arterial anatomic variants at the skull base, and vascular skull base tumors are some of the more common causes of arterial and arteriovenous pulsatile tinnitus. Noninvasive imaging is indicated to evaluate for possible causes of pulsatile tinnitus, and should be followed by catheter angiography if there is a strong clinical suspicion for a dural arteriovenous fistula.

  4. 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.

  5. 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

    2010-07-15

    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 x 10(-8) in the Japanese and P = 3.7 x 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.

  6. CLINICAL IMPORTANCE OF ENDOTHELIAL DYSFUNCTION AND INSULIN RESISTANCE SYNDROME IN PATIENTS WITH GOUT ASSOCIATED WITH ARTERIAL HYPERTENSION

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    N. N. Kushnarenko

    2013-01-01

    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.

  7. 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.

  8. 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

  9. Time-dependency of improvements in arterial oxygenation during partial liquid ventilation in experimental acute respiratory distress syndrome

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    Max, Martin; Kuhlen, Ralf; Dembinski, Rolf; Rossaint, Rolf

    2000-01-01

    Background: The mechanisms by which partial liquid ventilation (PLV) can improve gas exchange in acute lung injury are still unclear. Therefore, we examined the time- and dose-dependency of the improvements in arterial oxygen tension (PaO2) due to PLV in eight pigs with experimental lung injury, in order to discriminate increases due to oxygen dissolved in perfluorocarbon before its intrapulmonary instillation from a persistent diffusion of the respiratory gas through the liquid column. Results: Application of four sequential doses of perfluorocarbon resulted in a dose-dependent increase in PaO2. Comparison of measurements 5 and 30 min after instillation of each dose revealed a time-dependent decrease in PaO2 for doses that approximated the functional residual capacity of the animals. Conclusion: Although oxygen dissolved in perfluorocarbon at the onset of PLV can cause a short-term improvement in arterial oxygenation, diffusion of oxygen through the liquid may not be sufficient to maintain the initially observed increase in PaO2. PMID:11056747

  10. Antibodies Against β2-Glycoprotein I Complexed With an Oxidised Lipoprotein Relate to Intima Thickening of Carotid Arteries in Primary Antiphospholipid Syndrome

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    P. R. J. Ames

    2006-01-01

    Full Text Available To explore whether antibodies against β2-glycoprotein I (β2GPI complexed to 7-ketocholesteryl-9-carboxynonanoate (oxLig-1 and to oxidised low-density lipoproteins (oxLDL relate to paraoxonase activity (PONa and/or intima media thickness (IMT of carotid arteries in primary antiphospholipid syndrome (PAPS. As many as 29 thrombotic patients with PAPS, 10 subjects with idiopathic antiphospholipid antibodies (aPL without thrombosis, 17 thrombotic patients with inherited thrombophilia and 23 healthy controls were investigated. The following were measured in all participants: β2GPI−oxLDL complexes, IgG anti-β2GPI−oxLig-1, IgG anti-β2GPI−oxLDL antibodies (ELISA, PONa, (para-nitrophenol method, IMT of common carotid (CC artery, carotid bifurcation (B, internal carotid (IC by high resolution sonography. β2GPI−oxLDL complex was highest in the control group (p < 0.01, whereas, IgG anti-β2GPI−oxLig1 and IgG anti-β2GPI−oxLDL were highest in PAPS (p < 0.0001. In healthy controls, β2GPI−oxLDL complexes positively correlated to IMT of the IC (p = 0.007 and negatively to PONa after correction for age (p < 0.03. PONa inversely correlated with age (p = 0.008. In PAPS, IgG anti-2GPI−oxLig-1 independently predicted PONa (p = 0.02 and IMT of B (p = 0.003, CC, (p = 0.03 and of IC (p = 0.04. In PAPS, PONa inversely correlated to the IMT of B, CC and IC (p = 0.01, 0.02 and 0.003, respectively. IgG anti-2GPI−oxLig-1 may be involved in PAPS related atherogenesis via decreased PON activity.

  11. Variants in CUL4B are Associated with Cerebral Malformations

    NARCIS (Netherlands)

    Vulto-van Silfhout, Anneke T.; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A.; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E. L. M.; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Muesebeck, Joerg; Rump, Patrick; Mathijssen, Inge B.; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K.; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M.; Yntema, Helger G.; Jarvela, Irma; Ropers, Hans-Hilger; de Vries, Bert B. A.; Brunner, Han G.; van Bokhoven, Hans; Raymond, F. Lucy; Willemsen, Michel A. A. P.; Chelly, Jamel; Xiong, Yue; Barkovich, A. James; Kalscheuer, Vera M.; Kleefstra, Tjitske; de Brouwer, Arjan P. M.

    2015-01-01

    Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating varia

  12. Variants in CUL4B are associated with cerebral malformations

    NARCIS (Netherlands)

    Vulto-van Silfhout, A.T.; Nakagawa, T.; Bahi-Buisson, N.; Haas, S.A.; Hu, H; Bienek, M.; Vissers, L.E.L.M.; Gilissen, C.F.H.A.; Tzschach, A.; Busche, A.; Musebeck, J.; Rump, P.; Mathijssen, I.B.; Avela, K.; Somer, M.; Doagu, F.; Philips, A.K.; Rauch, A.; Baumer, A.; Voesenek, K.E.J.; Poirier, K.; Vigneron, J.; Amram, D.; Odent, S.; Nawara, M.; Obersztyn, E.; Lenart, J.; Charzewska, A.; Lebrun, N.; Fischer, U.; Nillesen, W.M.; Yntema, H.G.; Jarvela, I.; Ropers, H.H.; Vries, B. de; Brunner, H.G.; Bokhoven, H. van; Raymond, F.L.; Willemsen, M.A.A.P.; Chelly, J.; Xiong, Y.; Barkovich, A.J.; Kalscheuer, V.M.; Kleefstra, T.; Brouwer, A.P.M. de

    2015-01-01

    Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating varia

  13. Increased burden and severity of metabolic syndrome and arterial stiffness in treatment naïve HIV+ patients from Cameroon

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    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 bla