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Sample records for rudhe syndrome reversible

  1. Rudhe syndrome: reversible right middle lobe emphysema in infants with left-to-right shunts--an historical review.

    PubMed

    Collins, Lee K; Levin, Terry L; Berdon, Walter E; Cowles, Robert A; Newman, Beverley

    2010-05-01

    In 1971, the Swedish radiologist Ulf Rudhe wrote a provocative paper on right middle lobe emphysema in infants with left-to-right shunts in which he suggested cardiac surgery rather than lung resection. At the time, this was counter to accepted medical practice. Earlier diagnosis and better medical management of ventricular septal defect in infants has proved Rudhe correct. However, two current cases of large left-to-right shunts in infants with emphysema of the right middle lobe prompt this historical review of what seemed a closed-episode in pediatric cardiac surgery.

  2. Reversible cerebral vasoconstriction syndrome.

    PubMed

    Lee, R; Ramadan, H; Bamford, J

    2013-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is an underdiagnosed condition which usually presents as severe headache with or without neurological deficit. We report the case of a 55-year-old woman who presented with headache and multifocal intracerebral haemorrhage. We review the literature regarding the presentation, pathophysiology and management of RCVS and discuss how to differentiate it from cerebral vasculitis.

  3. [Reversible cerebral vasoconstriction syndrome].

    PubMed

    Laakso, Elina; Pekkola, Johanna; Soinne, Lauri; Putaala, Jukka

    2014-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is increasingly recognized. The condition is characterized by multifocal vasoconstriction lesions in cerebral arteries. Headache is the central symptom, with an acute onset and paroxysmal occurrence. Some of the patients develop intracranial hemorrhage, ischemic disturbance of the cerebral circulation, hypertensive encephalopathy (PRES) or epileptic seizures as complications. The disease is most common in middle-aged women. Most patients have an underlying predisposing factor, most commonly vasoactive medications, drugs or puerperium. There is no evidence-based practice.

  4. Reversible cerebral vasoconstriction syndrome.

    PubMed

    Ducros, Anne

    2012-10-01

    Recurrent thunderclap headaches, seizures, strokes, and non-aneurysmal subarachnoid haemorrhage can all reveal reversible cerebral vasoconstriction syndrome. This increasingly recognised syndrome is characterised by severe headaches, with or without other symptoms, and segmental constriction of cerebral arteries that resolves within 3 months. Reversible cerebral vasoconstriction syndrome is supposedly due to a transient disturbance in the control of cerebrovascular tone. More than half the cases occur post partum or after exposure to adrenergic or serotonergic drugs. Manifestations have a uniphasic course, and vary from pure cephalalgic forms to rare catastrophic forms associated with several haemorrhagic and ischaemic strokes, brain oedema, and death. Diagnosis can be hampered by the dynamic nature of clinicoradiological features. Stroke can occur a few days after initial normal imaging, and cerebral vasoconstriction is at a maximum on angiograms 2-3 weeks after clinical onset. The calcium channel blocker nimodipine seems to reduce thunderclap headaches within 48 h of administration, but has no proven effect on haemorrhagic and ischaemic complications. Copyright © 2012 Elsevier Ltd. All rights reserved.

  5. Reversible cerebral vasoconstriction syndrome.

    PubMed

    Calic, Z; Cappelen-Smith, C; Zagami, A S

    2015-06-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a clinical-radiological syndrome characterised by severe thunderclap headaches with or without other neurological symptoms and multifocal constriction of cerebral arteries that usually resolves spontaneously within 3 months. Most patients recover completely, but up to 10% have a permanent neurological disability and some even die. Previously RCVS has been described in many clinical contexts and under different names with the term RCVS first being suggested in 2007 to unify the group. The condition may be spontaneous, but in up to 60% of cases it is secondary to another cause, including vasoactive substances (medications and illicit drugs), blood products and the post-partum state. It is believed to have a similar pathophysiological mechanism to the posterior reversible encephalopathy syndrome (PRES), and both can occur in similar clinical contexts and are frequently associated. Treatment options include calcium channel antagonists. RCVS occurs in a broad range of clinical situations making it an increasingly recognised condition about which doctors in various specialties need to be aware. © 2014 Royal Australasian College of Physicians.

  6. [Reversible cerebral vasoconstriction syndrome].

    PubMed

    Néel, A; Guillon, B; Auffray-Calvier, E; Hello, M; Hamidou, M

    2012-10-01

    The reversible cerebral vasoconstriction syndrome (RCVS) is an under-estimated transient acute cerebrovascular disorder. It has long been mistaken as central nervous system vasculitis whereas it is now believed to result from an acute but prolonged vasospasm of cerebral arteries. This disorder can be precipitated by postpartum or vasoactive drug. However, it occurs spontaneously in a significant number of cases. The characteristic clinico-radiological presentation and disease course of the RCVS has been delineated only recently. Mean age at onset is 40-45 years, with a female predominance. A provocative factor can be identified in 12-60% out of the patients. Clinical presentation is predominantly marked by recurrent thunderclap headaches, but can be complicated with focal neurological deficit or seizures. Brain imaging is normal in most cases, but can reveal hemorrhagic or ischemic complications. Cortical subarachnoid hemorrhage is a suggestive finding. A posterior reversible encephalopathy syndrome (PRES) can be seen occasionally. Cerebral angiography reveals multifocal arterial narrowing with string and bead appearance. Cerebrospinal fluid reveals no or mild abnormalities. The disease resumes spontaneously within several days to weeks, whereas vasoconstriction reverses within 1 to 3 months. This clinico-radiological presentation should be promptly recognized in order to avoid unnecessary investigations and aggressive treatment, and lead to search for a triggering factor. Further studies are required in order to clarify the precipitating role of several drugs, and clinical trials are needed to reduce the occurrence of strokes. Copyright © 2012 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  7. [Posterior reversible encephalopathy syndrome].

    PubMed

    Petrović, Branko; Kostić, Vladimir; Sternić, Nadezda; Kolar, Jovo; Tasić, Nebojsa

    2003-01-01

    Reversible Posterior Leukoencephalopathy Syndrome was introduced into clinical practice in 1996 in order to describe unique syndrome, clinically expressed during hypertensive and uremic encephalopathy, eclampsia and during immunosuppressive therapy [1]. First clinical investigations showed that leucoencephalopathy is major characteristic of the syndrome, but further investigations showed no significant destruction in white cerebral tissue [2, 3, 4]. In majority of cases changes are localise in posterior irrigation area of the brain and in the most severe cases anterior region is also involved. Taking into consideration all above mentioned facts, the suggested term was Posterior Reversible Encephalopathy Syndrome (PRES) for the syndrome clinically expressed by neurological manifestations derived from cortical and subcortical changes localised in posterior regions of cerebral hemispheres, cerebral trunk and cerebellum [5]. Patient, aged 53 years, was re-hospitalized in Cardiovascular Institute "Dediwe" two months after successful aorto-coronary bypass performed in June 2001 due to the chest bone infection. During the treatment of the infection (according to the antibiogram) in September 2001, patient in evening hours developed headache and blurred vision. The recorded blood pressure was 210/120 mmHg so antihypertensive treatment was applied (Nifedipin and Furosemid). After this therapy there was no improvement and intensive headache with fatigue and loss of vision developed. Neurological examination revealed cortical blindness and left hemiparesis. Manitol (20%, 60 ccm every 3 hours) and i.v. Nytroglicerin (high blood pressure). Brain CT revealed oedema of parieto-occipital regions of both hemispheres, more emphasized on the right. (Figure 1a, b, c). There was no sign of focal ischemia even in deeper sections (Figure 1d, e, f). Following three days enormous high blood pressure values were registered. On the fourth day the significant clinical improvement occurred

  8. Reversible cerebral vasoconstriction syndrome.

    PubMed

    Ducros, Anne

    2014-01-01

    Reversible cerebral vasoconstriction syndrome is characterized by severe headaches with or without focal neurologic deficits and/or seizures, and segmental constriction of cerebral arteries that resolves within 3 months. This increasingly recognized syndrome is supposedly due to a transient disturbance in the control of cerebral vascular tone with sympathetic overactivity. It can cause stroke in the young. It affects mainly middle-aged women. More than half the cases occur after exposure to vasoactive substances or during postpartum. The manifestations have a monophasic course, without new clinical symptom after 4 weeks, and range from pure cephalalgic forms with recurrent thunderclap headaches over 1-2 weeks to rare catastrophic forms with multiple hemorrhagic and ischemic strokes, brain edema and death. Diagnosis may be hampered by the dynamic nature of clinicoradiological features. Convexity subarachnoid hemorrhage or stroke may occur a few days after initial normal imaging, and cerebral vasoconstriction is maximal on angiography 2-3 weeks after clinical onset. Symptomatic treatment includes rest and removal of vasoactive substances. Nimodipine has been proposed to reduce thunderclap headaches within 48 hours, but has no proven effect on the hemorrhagic and ischemic complications. © 2014 Elsevier B.V. All rights reserved.

  9. Reversible cerebral vasoconstriction syndrome.

    PubMed

    Sampaio Rocha Filho, Pedro Augusto; Santos Barbosa, Janayna; Melo Correa-Lima, Ana Rosa

    2010-08-01

    Reversible cerebral vasoconstriction syndrome is characterized by thunderclap headache associated with multifocal vasoconstriction of cerebral arteries in patients without aneurysmal subarachnoid hemorrhage (SAH). The vasoconstriction reverts within three months. We report a 44-year-old man who had a thunderclap headache during sexual intercourse. A similar episode occurred at rest 36 hours later. The patient had already experienced a thunderclap headache 10 years earlier, during coitus. There were no abnormalities on examination. His brain computed tomography scan was normal and cerebrospinal fluid analysis showed no xanthochromia, 15 WBC/mm³ and 10 RBC/mm³. Lumbar puncture was repeated two days later (WBC = 3/mm³ and RBC = 43/mm³). An initial digital cerebral angiography showed a diffuse segmental intracerebral vasospasm. A new angiography after 15 days was normal. He remains headache-free after twenty six months. In conclusion, patients who have thunderclap headache with normal brain CT and cerebrospinal fluid without xantochromia should be investigated for this syndrome.

  10. Reversible Cerebral Vasoconstriction Syndrome.

    PubMed

    Bernard, Kenneth R L; Rivera, Morris

    2015-07-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is an underappreciated and poorly understood cause of thunderclap headache (TCH). Although self-limited in the majority of patients, incidence is increasing, with presentations overlapping considerably with life-threatening conditions, such as aneurysmal subarachnoid hemorrhage and stroke. In addition, radiographic findings seen in RCVS are also present in primary angiitis of the central nervous system (PACNS). Misdiagnosis of RCVS might subject patients to unnecessary invasive testing and immunosuppressive therapy. Furthermore, the recommended treatment of glucocorticoids used in PACNS can be harmful in RCVS. RCVS is not a benign condition, as patients can have ischemic or hemorrhagic complications leading to persistent neurologic deficits and even death. Current treatments, guided only by expert consensus, have no proven effect on these complications, which argues the need for accurate identification of patients with RCVS and prospective studies to validate treatment and inform prognoses. We describe a previously healthy male who presented to the emergency department after 2 episodes of TCH and angiography consistent with RCVS. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: RCVS is a common but underappreciated cause of TCH. The likelihood of misdiagnosing RCVS following the accepted diagnostic algorithm of acute headache in the emergency department is high due to a lack of clinical awareness and common features shared with other headache syndromes. Emergency department physicians must broaden the differential in patients presenting to the emergency department with TCH to include RCVS and be familiar with the accepted treatments and appropriate follow-up. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. The posterior reversible encephalopathy syndrome.

    PubMed

    Sanjay, K Mandal; Partha, P Chakraborty

    2008-09-01

    The posterior/potentially reversible encephalopathy syndrome is a unique syndrome encountered commonly in hypertensive encephalopathy. A 13-year-old boy presented with of intermittent high grade fever, throbbing headache and non-projective vomiting for 5 days. The patient had a blood pressure of 120/80 mmHg but fundoscopy documented grade 3 hypertensive retinopathy. The patient improved symptomatically following conservative management. However, on the 5(th) post-admission day headache reappeared, and blood pressure measured at that time was 240/120 mmHg. Neuroimaging suggested white matter abnormalities. Search for the etiology of secondary hypertension led to the diagnosis of pheochromocytoma. Repeated MRI after successful surgical excision of the tumor patient showed reversal of white matter abnormalities. Reversible leucoencephalopathy due to pheochromocytoma have not been documented in literature previously.

  12. A reversible cerebral vasoconstriction syndrome

    PubMed Central

    Ba, Fang; Giuliani, Fabrizio; Camicioli, Richard; Saqqur, Maher

    2012-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is typically presented with severe headaches where, vascular imaging demonstrates multiple intracranial arterial narrowing. Variable triggers are related to RCVS, such as serotonin agents and bromocriptine. Thus, a detailed medication history is important. Subarachnoid haemorrhage (SAH) is not uncommon in RCVS. Repeat vascular imaging at 2–3 months with complete reversal of the narrowed vessels confirms the diagnosis of RCVS. The authors present a case where use of triptan along with multiple psychotropic medications, was associated with RVCS. Neuroimaging demonstrated focal SAH and diffuse beaded appearance involving the intracranial vasculature. The patient improved clinically with oral nimodipine treatment. Repeat angiography and a follow-up transcranial Doppler showed complete resolution of vasoconstriction. In the setting of acute severe headache, with any ‘red flags’, it is important to evaluate the medication use and other precipitating risks for RVCS. Vascular imaging is the key for diagnosis. PMID:22787186

  13. Reversing the Effects of Fragile X Syndrome

    ERIC Educational Resources Information Center

    Ogren, Marilee P.; Lombroso, Paul J.

    2008-01-01

    A research on how synaptic plasticity is abnormally regulated in fragile X syndrome and how this abnormality can be reversed by therapeutic interventions is presented. Fragile X syndrome is a disorder of synaptic plasticity that contributes to abnormal development and interferes with normal learning and memory.

  14. Reversible postural orthostatic tachycardia syndrome.

    PubMed

    Abdulla, Aza; Rajeevan, Thirumagal

    2015-07-16

    Postural orthostatic tachycardia syndrome (POTS) is a relatively rare syndrome recognised since 1940. It is a heterogenous condition with orthostatic intolerance due to dysautonomia and is characterised by rise in heart rate above 30 bpm from base line or to more than 120 bpm within 5-10 min of standing with or without change in blood pressure which returns to base line on resuming supine position. This condition present with various disabling symptoms such as light headedness, near syncope, fatigue, nausea, vomiting, tremor, palpitations and mental clouding, etc. However there are no identifiable signs on clinical examination and patients are often diagnosed to have anxiety disorder. The condition predominantly affects young female between the ages of 15-50 but is rarely described in older people. We describe an older patient who developed POTS which recovered over 12 mo. Recognising this condition is important as there are treatment options available to alleviate the disabling symptoms.

  15. Reversible cerebral vasoconstriction syndrome induced by adrenaline.

    PubMed

    Palma, Jose-Alberto; Fontes-Villalba, Ariadna; Irimia, Pablo; Garcia-Eulate, Reyes; Martinez-Vila, Eduardo

    2012-04-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by acute severe thunderclap headaches and evidence of multifocal, segmental, reversible vasoconstrictions of the cerebral arteries. Several precipitating factors have been identified and reported, including the use of recreational substances or sympathomimetic drugs and the postpartum state. Here we present the case of a woman who developed RCVS after the administration of adrenaline (epinephrine) in the setting of an anaphylactic reaction during antibiotic allergy testing. To our knowledge, this is the first reported case of RCVS following the administration of exogenous adrenaline. This case contributes to the understanding of the physiopathological mechanisms underlying reversible cerebral vasoconstriction.

  16. Sheehan syndrome with reversible dilated cardiomyopathy.

    PubMed

    Laway, Bashir A; Alai, Mohammad S; Gojwari, Tariq; Ganie, Mohd A; Zargar, Abdul Hamid

    2010-01-01

    Cardiac abnormalities in patients with Sheehan syndrome are uncommon. A case of Sheehan syndrome with dilated cardiomyopathy is presented in whom hormone replacement with levothyroxine and prednisolone resulted in complete recovery of cardiomyopathy. A 25-year-old woman presented with lactation failure, secondary amenorrhea, features of hypothyroidism and a hypocortisol state following severe postpartum hemorrhage after her last child birth. She also had smear positive pulmonary tuberculosis. After starting antitubercular treatment, she developed shock, suggestive of hypocortisol crisis. Hormonal investigations revealed evidence of panhypopitutarism and magnetic resonance imaging revealed partial empty sella. Meanwhile echocardiography revealed evidence of dilated cardiomyopathy (DCM). The patient was given replacement therapy in the form of glucocorticoids and levothyroxine in addition to antitubercular treatment. She improved and on follow-up over a period of 7 months, the DCM completely reversed. To our knowledge this is the first report of reversible DCM in a patient with Sheehan syndrome.

  17. Cyclophosphamide-induced reversible posterior leukoencephalopathy syndrome.

    PubMed

    Abenza-Abildua, Maria Jose; Fuentes, Blanca; Diaz, Domingo; Royo, Aranzazu; Olea, Teresa; Aguilar-Amat, Maria Jose; Diez-Tejedor, Exuperio

    2009-01-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is a clinical radiological syndrome, characterised by acute headache, altered consciousness, seizures and hypertension. The most frequent causes are hypertensive encephalopathy, eclampsia and some immunosuppressive therapies. The pathogenesis remains unclear, but it appears to be related to altered cerebral circulation, producing oedema that can be seen on MRI, and it resolves in 2 or 3 weeks. In the present report, a possible first reported case of cyclophosphamide-induced RPLS in a 27-year-old man with high blood pressure (HBP) and glomerulonephritis caused by Goodpasture syndrome, treated with cyclophosphamide during the last month and prednisone for glomerulonephritis resulting from Goodpasture syndrome without other immunosuppressive drugs, is described.Symptoms appeared during a hypertensive crisis, but when cyclophosphamide was replaced by rituximab and hypertension was controlled, the patient did not have neurological symptoms. Almost all reported cases induced by immunosuppressive therapy or other causes were associated with hypertension as well.

  18. Cyclophosphamide-induced reversible posterior leukoencephalopathy syndrome

    PubMed Central

    Abenza-Abildua, Maria Jose; Fuentes, Blanca; Diaz, Domingo; Royo, Aranzazu; Olea, Teresa; Aguilar-Amat, Maria Jose; Diez-Tejedor, Exuperio

    2009-01-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is a clinical radiological syndrome, characterised by acute headache, altered consciousness, seizures and hypertension. The most frequent causes are hypertensive encephalopathy, eclampsia and some immunosuppressive therapies. The pathogenesis remains unclear, but it appears to be related to altered cerebral circulation, producing oedema that can be seen on MRI, and it resolves in 2 or 3 weeks. In the present report, a possible first reported case of cyclophosphamide-induced RPLS in a 27-year-old man with high blood pressure (HBP) and glomerulonephritis caused by Goodpasture syndrome, treated with cyclophosphamide during the last month and prednisone for glomerulonephritis resulting from Goodpasture syndrome without other immunosuppressive drugs, is described. Symptoms appeared during a hypertensive crisis, but when cyclophosphamide was replaced by rituximab and hypertension was controlled, the patient did not have neurological symptoms. Almost all reported cases induced by immunosuppressive therapy or other causes were associated with hypertension as well. PMID:21686794

  19. Reversible cerebral vasoconstriction syndrome: a comprehensive update.

    PubMed

    Mehdi, Ali; Hajj-Ali, Rula A

    2014-09-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a clinico-radiological syndrome characterized by recurrent thunderclap headache, with or without neurologic symptoms, and reversible vasoconstriction of cerebral arteries. RCVS affects patients in various racial and ethnic groups and in all age groups, although most commonly in the fourth decade of life. Many conditions and exposures have been linked to RCVS, including vasoactive drugs and the peripartum period. Disturbance of the cerebral vascular tone is thought to contribute to the disease's pathophysiology. RCVS generally follows a monophasic course. Associated strokes and cerebral hemorrhages are not uncommon. In this review we will attempt to provide a comprehensive overview of RCVS, with emphasis on the controversies in the field and the newest findings in the reported literature.

  20. Idiopathic reversible cerebral vasoconstriction syndrome (RCVS).

    PubMed

    Abkur, Tarig Mohammed; Saeed, Mamoun; Alfaki, Nidal Osman; O'Connor, Margaret

    2014-10-15

    Reversible cerebral vasoconstriction syndrome is characterised by severe thunderclap headache with associated characteristic transient, multifocal, segmental vasoconstriction of cerebral arteries lasting several weeks to months. We describe a 50-years old woman who presented with a severe sudden onset occipital headache. Neuroimaging revealed segmental vasospasm affecting the intracerebral arteries. The pain improved gradually over the next 6 weeks. Repeat brain MR angiography at 12 weeks showed complete resolution of the segmental narrowing. 2014 BMJ Publishing Group Ltd.

  1. Reversible cerebral vasoconstriction syndrome combined with posterior reversible encephalopathy syndrome after heart transplantation.

    PubMed

    Ban, Seung Pil; Hwang, Gyojun; Kim, Chang Hyeun; Kwon, O-Ki

    2017-08-01

    Reversible cerebral vasoconstriction syndrome (RCVS) combined with posterior reversible encephalopathy syndrome (PRES) is a rare complication in patients treated with immunosuppressants. A 52-year-old male patient presented with seizures after heart transplantation. The patient was suspected of having PRES on brain images. Despite the strict blood pressure control, the patient presented with altered mentality and the brain images showed a newly developed large acute infarction. Digital subtraction angiography (DSA) revealed the classic "sausage on a string" appearance of the cerebral arteries - potential feature of RCVS. To our knowledge, this is the first case report to describe RCVS combined with PRES after heart transplantation. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Posterior reversible encephalopathy syndrome in Guillain-Barré syndrome.

    PubMed

    Chen, Adam; Kim, Jennifer; Henderson, Galen; Berkowitz, Aaron

    2015-05-01

    Autonomic dysfunction is a well-known complication of Guillain-Barré syndrome (GBS) and may manifest as hemodynamic fluctuations. Posterior reversible encephalopathy syndrome (PRES) is commonly associated with acute hypertension, but is rarely reported to occur in association with GBS. We describe a patient with GBS who developed PRES in the setting of autonomic dysfunction and review the clinical features of all 12 previously reported patients with co-occurrence of GBS and PRES. Almost all cases have occurred in women over the age of 55, raising the possibility of increased sensitivity to dysautonomia in this patient group. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Posterior reversible encephalopathy syndrome(PRES).

    PubMed

    Sudulagunta, Sreenivasa Rao; Sodalagunta, Mahesh Babu; Kumbhat, Monica; Settikere Nataraju, Aravinda

    2017-04-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological syndrome characterized by a headache, seizures, altered mental status and visual loss and characterized by white matter vasogenic edema affecting the posterior occipital and parietal lobes of the brain predominantly. This clinical syndrome is increasingly recognized due to improvement and availability of brain imaging specifically magnetic resonance imaging (MRI). A 35-year-old female with the history of unsafe abortion and massive blood transfusion 10 days ago was brought to the emergency room with three episodes of generalized tonic-clonic seizures, urinary incontinence and altered sensorium since 3 hours. MRI brain showed bilateral occipital, parietal, frontal cortex and subcortical white matter T2/Fluid-attenuated inversion recovery hyperintensities, suggestive of PRES. The patient improved after management with intravenous fluids, antibiotics, antiepileptics and monitoring of blood pressure. If recognized and treated early, the clinical syndrome commonly resolves within a week. PRES can be a major problem in rapid and massive blood transfusion. A high index of suspicion and prompt treatment can reduce morbidity, mortality and pave the path for early recovery.

  4. Reverse mutations in fragile X syndrome

    SciTech Connect

    Brown, W.T.; Nolin, S.; Houck, G.E.

    1994-09-01

    The fragile X syndrome is the most common inherited form of mental retardation. Yet new mutations have not been described and no affected child has been born to a carrier mother having less than 60 FMR-1 CGG triplet repeats. Reverse mutations also appear to be very rare. We have previously identified the daughter of a premutation mother (95 CGGs) who inherited a normal repeat size of 35 as a reverse mutation. In the process of carrier testing by PCR, we have now identified two additional females with reverse mutations. All three of these reverse mutation women were previously tested by linkage as part of known fragile X families (subsequently confirmed by direct analysis), and assigned a > 99% risk as a carrier. In the second family, the mother carries a premutation allele of 95 repeats and the daughter inherited a 43 repeat allele. Prior to direct DNA testing, she had a positive prenatal diagnosis by linkage (> 99% risk) and cytogenetics with 3/450 cells apparently positive. Subsequent retesting of the products of conception by PCR now reveals a 43 repeat allele from her carrier mother with an 82 repeat allele. Testing with close CA markers (FRAXAC1 and DXS548) confirmed that these women inherited the same chromosome and their full mutation brothers. Further analysis is pending. These examples of reverse mutations are the only ones we have identified in our study of offspring of more than 200 carriers (400+ meioses) examined to date. Therefore, we conclude the frequency of fragile X back mutations is likely to be less than 1%. Retesting of linkage positive carriers is recommended to detect reverse mutations and assure accurate genetic counseling.

  5. Reversible Cerebral Vasoconstriction Syndrome and Posterior Reversible Encephalopathy Syndrome Presenting with Deep Intracerebral Hemorrhage in Young Women

    PubMed Central

    Lee, Won Jae; JO, Kyung-Il; Kim, Jong-Soo; Hong, Seung-Chyul

    2015-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a group of syndromes characterized by reversible segmental constriction of cerebral arteries. Posterior reversible encephalopathy syndrome (PRES) is another clinical-radiologic syndrome characterized by reversible, posterior-predominant brain edema. Although the exact causes of these reversible syndromes are poorly understood, these entities may share some common pathophysiologic elements leading to hemorrhagic strokes and rarely, deep intracerebral hemorrhage (ICH). Recent studies have suggested that endothelial dysfunction is a common pathophysiologic factor associated with these syndromes. We report on two young female patients who presented with deep ICH and were later diagnosed as RCVS and PRES. Both patients suffered from vasoconstriction and delayed ischemic stroke. Early detection of distinguishing clinical-radiologic features associated with these reversible syndromes and removing triggers would facilitate successful treatment with no complications. PMID:26523259

  6. Reversible Cerebral Vasoconstriction Syndrome: Recognition and Treatment.

    PubMed

    Cappelen-Smith, Cecilia; Calic, Zeljka; Cordato, Dennis

    2017-06-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a rare but increasingly recognized disorder with over 500 cases published in the literature. The condition is characterized by recurrent severe thunderclap headaches with or without other neurological symptoms and diffuse segmental narrowing of the cerebral arteries which is reversible within 3 months. RCVS may occur spontaneously but in over 50% of cases, it is associated with various other conditions, including vasoactive medications or illicit drugs and the post-partum state. One third to a half of cases develop hemorrhagic or ischemic brain lesions or a combination of both. Posterior reversible encephalopathy syndrome (PRES) often occurs in association with RCVS and the conditions are likely to share a common pathophysiology. The pathogenesis of RCVS remains uncertain but autonomic dysregulation, oxidative stress, and genetic predisposition are postulated. Significant differential diagnoses include subarachnoid hemorrhage (SAH) due to aneurysmal rupture, cervical artery dissection, and primary angiitis of the central nervous system (PACNS). Although there is no proven treatment, calcium channel antagonists including nimodipine and verapamil have been administered with reported reduction of headache intensity but without effect on the time course of cerebral vasoconstriction. Glucocorticoids have been reported as an independent predictor of worse outcome and should be avoided. The cornerstone of RCVS management remains largely supportive with bed rest and analgesics and removal of precipitating factors. Invasive neurointerventional techniques should be reserved for severe deteriorating cases. The condition is usually benign and self-limited and the majority of patients have a favorable outcome but around 5-10% are left with permanent neurological deficits and rare cases may die. This review details the importance of the early recognition of this increasingly described condition and current treatment

  7. Duloxetine-related posterior reversible encephalopathy syndrome

    PubMed Central

    Zappella, Nathalie; Perier, François; Pico, Fernando; Palette, Catherine; Muret, Alexandre; Merceron, Sybille; Girbovan, Andrei; Marquion, Fabien; Legriel, Stephane

    2016-01-01

    Abstract Background: Posterior reversible encephalopathy syndrome (PRES) has well-established links with several drugs. Whether a link also exists with serotonin–norepinephrine reuptake inhibitor such as duloxetine is unclear. Methods: We report on a patient who developed PRES with a coma and myoclonus related to hypertensive encephalopathy a few days after starting duloxetine treatment. Magnetic resonance imaging was performed and catecholamine metabolites assayed. Results: The patient achieved a full recovery after aggressive antihypertensive therapy and intravenous anticonvulsant therapy. Conclusions: The clinical history, blood and urinary catecholamine and serotonin levels, and response to treatment strongly suggest that PRES was induced by duloxetine. Duloxetine should be added to the list of causes of PRES. PMID:27537580

  8. Systematic review of reversible cerebral vasoconstriction syndrome

    PubMed Central

    Sattar, Ahsan; Manousakis, Georgios; Jensen, Matthew B

    2010-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a cerebrovascular disorder associated with multifocal arterial constriction and dilation. RCVS is associated with nonaneurysmal subarachnoid hemorrhage, pregnancy and exposure to certain drugs. The primary clinical manifestation is recurrent sudden-onset and severe (‘thunderclap’) headaches over 1–3 weeks, often accompanied by nausea, vomiting, photophobia, confusion and blurred vision. The primary diagnostic dilemma is distinguishing RCVS from primary CNS arteritis. Diagnosis requires demonstration of the characteristic ‘string of beads’ on cerebral angiography with resolution within 1–3 months, although many patients will initially have normal vascular imaging. Many treatments have been reported to ameliorate the headaches of RCVS, but it is unclear whether they prevent hemorrhagic or ischemic complications. PMID:20936928

  9. Systematic review of reversible cerebral vasoconstriction syndrome.

    PubMed

    Sattar, Ahsan; Manousakis, Georgios; Jensen, Matthew B

    2010-10-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a cerebrovascular disorder associated with multifocal arterial constriction and dilation. RCVS is associated with nonaneurysmal subarachnoid hemorrhage, pregnancy and exposure to certain drugs. The primary clinical manifestation is recurrent sudden-onset and severe (‘thunderclap’) headaches over 1–3 weeks, often accompanied by nausea, vomiting, photophobia, confusion and blurred vision. The primary diagnostic dilemma is distinguishing RCVS from primary CNS arteritis. Diagnosis requires demonstration of the characteristic ‘string of beads’ on cerebral angiography with resolution within 1–3 months, although many patients will initially have normal vascular imaging. Many treatments have been reported to ameliorate the headaches of RCVS, but it is unclear whether they prevent hemorrhagic or ischemic complications.

  10. Reversible cerebral vasoconstriction syndrome: case report.

    PubMed

    Oz, Oğuzhan; Demirkaya, Seref; Bek, Semai; Eroğlu, Erdal; Ulaş, Umit Hidir; Odabaşi, Zeki

    2009-08-01

    A 28-year-old woman had thunderclap headache (TCH), after 7 days she had left hemiparesis. She had a history of oral contraceptive and citalopram medications. Brain magnetic resonance (MR) angiography demonstrated multiple stenotic segments. Digital subtraction angiography (DSA) showed multiple segments of narrowing in vessel calibre. Two probable diagnoses performed; primary angiitis of the central nervous system and reversible cerebral vasoconstriction syndrome (RCVS). Because of clinical characteristics and normal cerebrospinal fluid findings she was set on medication for probable RCVS. Follow-up MR angiography after 4 weeks and DSA after 7 weeks demonstrated improvement in vessel calibre. Thus, diagnosis RCVS was established. Diagnosis and management of TCH contain many potential difficulties. Clinicians should consider the imaging of cerebral arteries, even if computed tomography scan and lumbar puncture are normal in TCH. Potential precipitating factors and triggers should also be known and avoided.

  11. Posterior reversible encephalopathy syndrome: a variant of hypertensive encephalopathy.

    PubMed

    Mirza, Ayoub

    2006-06-01

    Posterior reversible encephalopathy syndrome (PRES) is a recently described variant of hypertensive encephalopathy characterized by headache, visual disturbances and altered mental function. Its causes are diverse and in contrast to hypertensive encephalopathy, it can develop without significant elevation of blood pressure. This syndrome is mostly reversible when correctly managed; however, failure to recognize it can lead to cerebral infarction and death.

  12. Reversible posterior encephalopathy syndrome associated with micronodular adrenocortical disease and Cushing syndrome.

    PubMed

    Lodish, Maya; Patronas, Nicholas J; Stratakis, Constantine A

    2010-01-01

    We report a 6-year-old girl with ACTH-independent Cushing syndrome secondary to bilateral adrenal hyperplasia; she presented with hypertension and seizures, and magnetic resonance imaging shows changes consistent with posterior reversible encephalopathy syndrome.

  13. Reversible cerebral vasoconstriction syndrome 3 months after blood transfusion.

    PubMed

    Braun, Charles N; Hughes, Richard L; Bosque, Patrick J

    2012-11-01

    Reversible cerebral vasoconstriction syndrome is characterized by the prolonged but reversible constriction of cerebral arteries accompanied by a sudden onset of severe headache, and is sometimes complicated by subarachnoid hemorrhage or cerebral infarction. It is associated with various clinical conditions and treatments, although the precise pathophysiology is not understood. In particular, several cases of this syndrome have been described to occur in middle-aged women within 1 week of a blood transfusion. We encountered a patient with a reversible cerebral vasoconstriction syndrome who became symptomatic 3 months after a blood transfusion. No other cause for the syndrome was found. This case suggests that the risk for the reversible cerebral vasoconstriction may persist for months after blood transfusion. Copyright © 2012 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  14. Autonomic dysfunction in reversible cerebral vasoconstriction syndromes

    PubMed Central

    2013-01-01

    Background Autonomic imbalance may play an important role in the pathogenesis of reversible cerebral vasoconstriction syndromes (RCVS). This study aimed to assess the autonomic function by analyzing heart rate variability (HRV) in patients with RCVS. Methods Patients with RCVS and age- and gender-matched controls were consecutively recruited. All patients (both ictal and remission stage) and controls underwent 24-hour ambulatory electrocardiographic (ECG) recordings. HRV measures covering time and frequency domains were used to assess autonomic functioning. Results Thirty-nine patients with RCVS and 39 controls completed the study. Compared to the controls, RCVS patients during the ictal stage showed reductions in parasympathetic-related indices, including the root mean square of difference of consecutive interbeat intervals (RMSSD) (22.1 ± 7.0 vs. 35.2 ± 14.2, p < 0.001), the percentage of adjacent intervals that varied by more than 50 ms (pNN50) (3.7 ± 3.4 vs. 10.6 ± 8.1, p < 0.001), and high-frequency power (HF) (5.82 ± 0.73 vs. 6.77 ± 0.74; p < 0.001), and increased low-frequency/high-frequency (LF/HF) ratio (index of sympathovagal balance) (3.38 ± 1.32 vs. 2.48 ± 1.07; p =0.001). These HRV indices improved partially but remained significantly different from controls during remission. Conclusions Decreased parasympathetic modulations and accentuated sympathetic activity might be a biological trait in patients with RCVS. PMID:24274860

  15. Reversal of deafness after renal transplantation in Alport's syndrome.

    PubMed

    McDonald, T J; Zincke, H; Anderson, C F; Ott, N T

    1978-01-01

    Six patients (five men and one woman) with Alport's syndrome underwent successful renal transplantation (four received kidneys from cadaver donors and two received allografts from living, related donors). One patient who had received a cadaver kidney had substantial hearing improvement and the others had stabilization of hearing. Hearing loss in Alport's syndrome is progressive. The reversal of deafness in one of our patients and stabilization in the others made us wonder whether an inherited enzymopathy had been reversed, which then mitigated the deafness.

  16. Assessment of Noninvasive Regional Brain Oximetry in Posterior Reversible Encephalopathy Syndrome and Reversible Cerebral Vasoconstriction Syndrome.

    PubMed

    Chung, David Y; Claassen, Jan; Agarwal, Sachin; Schmidt, J Michael; Mayer, Stephan A

    2016-07-01

    Posterior reversible encephalopathy syndrome (PRES) leads to small- and large-vessel circulatory dysfunction. While aggressive lowering of elevated blood pressure is the usual treatment for PRES, excessive blood pressure reduction may lead to ischemia or infarction, particularly when PRES is accompanied by reversible cerebral vasoconstriction syndrome (RCVS). Regional cerebral oximetry using near-infrared spectroscopy is a noninvasive modality that is commonly used intraoperatively and in intensive care settings to monitor regional cerebral oxygenation (rSO2) and may be useful in guiding treatment in select cases of PRES and RCVS. We report a case of a patient with PRES complicated by infarction and RCVS where the optimal blood pressure management was unclear. A decision was made to decrease blood pressure which resulted in an improved neurological examination and increase in rSO2 from 40% to 55% in at-risk brain. Infarcted brain as determined by diffusion-weighted magnetic resonance imaging and computed tomography perfusion imaging showed no change in rSO2 during the same time period. Furthermore, there was a qualitative change in the rSO2-mean arterial pressure (MAP) relationship, suggesting an alteration in cerebrovascular autoregulation as a result of lowering blood pressure. Regional cerebral oximetry can provide valuable diagnostic feedback in complicated cases of PRES and RCVS. © The Author(s) 2016.

  17. Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome associated with intracranial hypotension.

    PubMed

    Feil, Katharina; Forbrig, Robert; Thaler, Franziska S; Conrad, Julian; Heck, Suzette; Dorn, Franziska; Pfister, Hans-Walter; Straube, Andreas

    2017-02-01

    Reversible cerebral vasoconstriction syndrome (RCVS) and posterior reversible encephalopathy syndrome (PRES) are both rare disorders. The pathophysiology of both diseases is not yet fully understood. We report the unique case of a 19-year-old comatose woman who was brought to the ER after a series of generalized tonic-clonic seizures 6 days post peridural anesthesia for cesarean section. Vital signs and initial laboratory testing including urine analysis and drug screening were unremarkable. Initial cranial CT scan showed an acute small subdural hematoma (17 mm length × 6 mm width × 30 mm height), cerebral edema with slit ventricles, and slight cerebellar tonsillar herniation as signs of intracranial hypotension. CT angiography depicted narrowing of the proximal intracranial vessels consistent with RCVS. MR imaging was also suggestive of both intracranial hypotension and RCVS and showed, in addition, vasogenic edema consistent with PRES. An extensive CSF leakage involving T1 to L2/L3 was confirmed by spinal MRI. The patient underwent conservative therapy for intracranial hypotension (e.g., head-down position) as well as epidural blood patch, which led to regression of the clinical symptoms within a few days. Follow-up MRI showed complete resolution of all radiological changes. In summary, our patient developed clinical and neuroradiological signs of intracranial hypotension and a combination of PRES and RCVS associated with a CSF leakage caused by peridural anesthesia; by treating the intracranial hypotension, the other syndromes resolved. From a clinical point of view, it is important to look for CSF leakage as a treatable possible cause of PRES and/or RCVS triggered by intracranial hypotension as in our patient postpartum. Moreover, it is vital to obtain a good history as, in cases of suspected CSF leakage with classic postural headache, a recent spinal/cranial procedure is typically present.

  18. Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.

    PubMed

    Akazawa, Yohei; Inaba, Yuji; Hachiya, Akira; Motoki, Noriko; Matsuzaki, Satoshi; Minatoya, Kenji; Morisaki, Takayuki; Morisaki, Hiroko; Kosaki, Kenjiro; Kosho, Tomoki; Koike, Kenichi

    2015-10-01

    Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder, caused by heterozygous mutations in TGFBR1 or TGFBR2 and characterized by vascular complications (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations. We here report the first patient with LDS presenting with reversible cerebral vasoconstriction syndrome (RCVS), a clinico-radiological condition characterized by recurrent thunderclap headaches, with or without neurological symptoms, and reversible vasoconstriction of cerebral arteries. The patient was a 9-year-old boy with a heterozygous TGFBR2 mutation, manifesting camptodactyly, talipes equinovarus, and lamboid craniosynostosis. He complained of severe recurrent headaches 2 months after total aortic replacement for aortic root dilatation and a massive Stanford type B aortic dissection. A thoracic CT scan revealed a left subclavian artery dissection. Brain MRI and MRA detected bilateral internal carotid artery constriction along with a cortical subarachnoid hemorrhage without intracranial aneurysms. Subsequently, he developed visual disturbance and a generalized seizure associated with multiple legions of cortical and subcortical increased signals including the left posterior lobe, consistent with posterior reversible encephalopathy syndrome (PRES), a condition characterized by headaches, visual disorders, seizures, altered mentation, consciousness disturbances, focal neurological signs, and vasogenic edema predominantly in the white matter of the posterior lobe. Vasoconstriction of the internal carotid artery was undetectable 2 months later, and he was diagnosed as having RCVS. Endothelial dysfunction, associated with impaired TGF-β signaling, might have been attributable to the development of RCVS and PRES. © 2015 Wiley Periodicals, Inc.

  19. Reversible cerebral vasoconstriction syndrome presenting as subarachnoid hemorrhage, reversible posterior leukoencephalopathy, and cerebral infarction.

    PubMed

    Noda, Kazuyuki; Fukae, Jiro; Fujishima, Kenji; Mori, Kentaro; Urabe, Takao; Hattori, Nobutaka; Okuma, Yasuyuki

    2011-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by acute severe headache with or without additional neurological symptoms and reversible cerebral vasoconstriction. Unruptured aneurysm has been reported in some cases with RCVS. We report a severe case of a 53-year-old woman with RCVS having an unruptured cerebral aneurysm and presenting as cortical subarachnoid hemorrhage, reversible posterior leukoencephalopathy syndrome, and cerebral infarction. She was successfully treated with corticosteroids and a calcium channel blocker and the aneurysm was clipped. Her various complications are due to the responsible vasoconstriction that started distally and progressed towards proximal arteries. This case demonstrates the spectrum of presentations of RCVS, a clinically complicated condition.

  20. Reversible cerebral vasoconstriction syndrome with concurrent bilateral carotid artery dissection.

    PubMed

    Bayer-Karpinska, Anna; Patzig, Maximilian; Adamczyk, Christopher; Dimitriadis, Konstantinos; Wollenweber, Frank A; Dichgans, Martin; Jahn, Klaus; Opherk, Christian

    2013-05-01

    The pathophysiological basis of reversible cerebral vasoconstriction syndrome is poorly understood but carotid artery dissection has been discussed as a rare possible cause. So far, only single cases of unilateral carotid artery dissection and reversible cerebral vasoconstriction syndrome have been reported. Here, we describe the case of a 54-year old patient presenting to the emergency department with right hemiparesis, hypaesthesia and dysarthria. Furthermore, he reported two episodes of thunderclap headache after autosexual activity. Cerebral imaging showed ischaemic infarcts, slight cortical subarachnoid haemorrhage, bilateral carotid artery dissection and fluctuating intracranial vessel irregularities, compatible with reversible cerebral vasoconstriction syndrome. An extensive diagnostic work-up was normal. No typical trigger factors of reversible cerebral vasoconstriction syndrome could be found. The patient received intravenous heparin and the calcium channel blocker nimodipine. Follow-up imaging revealed no vessel irregularities, the left internal carotid artery was still occluded. This case supports the assumption that carotid artery dissection should be considered as a potential trigger of reversible cerebral vasoconstriction syndrome, possibly by altering sympathetic vascular tone.

  1. Posterior reversible encephalopathy syndrome in acute intermittent porphyria.

    PubMed

    Zhao, Bi; Wei, QianQian; Wang, YunHan; Chen, YongPing; Shang, HuiFang

    2014-09-01

    Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, and visual disorder associated with potentially reversible neuroradiological abnormalities predominantly in the parieto-occipital lobes. We report a child with acute intermittent porphyria who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome. A 9-year-old girl underwent an appendectomy after developing abdominal pain. She subsequently developed bilateral visual disturbance, confusion, seizures, hypertension, tachycardia, nausea, vomiting, constipation, dark tea-colored urine, and recurrent abdominal pain. Initial brain magnetic resonance imaging revealed hyperintense gyriform lesions on T2-weighted images and hypointense to isointense lesions on T1-weighted images in both parieto-occipital lobes with mild enhancement. The diagnosis of acute intermittent porphyria was confirmed by increased urinary excretion of porphyrin precursors. Her clinical signs gradually improved after intravenous high-dose glucose treatment and symptomatic therapies. A repeat magnetic resonance imaging confirmed complete resolution of the parieto-occipital lesions, suggesting with posterior reversible encephalopathy syndrome. The association of abdominal pain, mental status changes, and autonomic dysfunction should arouse the suspicion of acute intermittent porphyria. Acute intermittent porphyria can be associated with posterior reversible encephalopathy syndrome. Copyright © 2014 Elsevier Inc. All rights reserved.

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

    PubMed Central

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

    2015-01-01

    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. PMID:26515750

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

    PubMed

    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.

  4. Reversible Cerebral Vasoconstriction Syndrome: A Report on Three Cases.

    PubMed

    Roongpiboonsopit, Duangnapa; Kongbunkiat, Kannikar; Phanthumchinda, Kammant

    2016-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS), a recently recognized syndrome, is defined as an intermittent segmental vasospasm of cerebral arteries accompanied by thunderclap headache. The major complications of RCVS include ischemic or hemorrhagic stroke, which may cause morbidity and mortality. It is important to detect RCVS in clinical practice because misdiagnosis may lead to inappropriate treatment. In Thailand, there are only two reported cases of RCVS, which may reflect an underdiagnosis of this syndrome. To raise awareness of RCVS, we reported a case series of three RCVS cases. Two of the presented cases had interesting precipitating factors, and two cases had an unusual delayed clinical course.

  5. Reverse mutations in the fragile X syndrome

    SciTech Connect

    Brown, W.T.; Houck, G.E. Jr.; Ding, Xiaohua

    1996-08-09

    Three females were identified who have apparent reversal of fragile X premutations. Based on haplotype analysis of nearby markers, they were found to have inherited a fragile X chromosome from their premutation carrier mothers, and yet had normal size FMR1 repeat alleles. The changes in repeat sizes from mother to daughter was 95 to 35 in the first, 145 to 43 in the second, and 82 to 33 in the third. In the first family, mutations of the nearby microsatellites FRAXAC2 and DXS548 were also observed. In the other two, only mutations involving the FMR1 repeats were found. We suggest differing mutational mechanisms such as gene conversion versus DNA replication slippage may underlie such reversions. We estimate that such revertants may occur among 1% or less of premutation carrier offspring. Our results indicate that women identified to be carriers by linkage should be retested by direct DNA analysis. 35 refs., 5 figs.

  6. Posterior reversible encephalopathy syndrome in children with kidney disease.

    PubMed

    Gera, D N; Patil, S B; Iyer, A; Kute, V B; Gandhi, S; Kumar, D; Trivedi, H L

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinic-radiographic entity of heterogeneous etiologies that are grouped together because of similar findings on neuro-imaging and associated symptom complex of headache, vision loss, altered mentation, and seizures. Although usually considered benign and reversible, characteristics of this syndrome in pediatric patients remain obscure. This case series included 11 patients (8 males, 3 females, age 3-15 years) of PRES during September 2010 to February 2012 out of a total 660 renal pediatric patients (1.66%). We studied their clinical profile, contributory factors, and outcome. Presenting symptoms were headache in 73%, dimness of vision or cortical blindness in 36%, seizures in 91%, and altered mentation in 55%. The associated renal diseases were acute renal failure (55%), chronic renal failure (9%), and 36% had normal renal function. The contributory factors were uncontrolled hypertension (100%), severe hypoproteinemia (9%), persistent hypocalcemia (9%), hemolytic uremic syndrome (36%), cyclosporine toxicity (9%), lupus nephritis (9%), high hematocrit (9%), and pulse methylprednisolone (9%). Brain imaging showed involvement of occipito-parietal area (100%) and other brain areas (63%). All but one patient of hemolytic uremic syndrome had complete clinical neurological recovery in a week, and all had normal neurological imaging after 4-5 weeks. PRES is an underdiagnosed entity in pediatric renal disease patients. Associated hypertension, renal disease, and immunosuppressive treatment are important triggers. Early diagnosis and treatment of comorbid conditions is of prime importance for early reversal of syndrome.

  7. Posterior reversible encephalopathy syndrome in children with kidney disease

    PubMed Central

    Gera, D. N.; Patil, S. B.; Iyer, A.; Kute, V. B.; Gandhi, S.; Kumar, D.; Trivedi, H. L.

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinic-radiographic entity of heterogeneous etiologies that are grouped together because of similar findings on neuro-imaging and associated symptom complex of headache, vision loss, altered mentation, and seizures. Although usually considered benign and reversible, characteristics of this syndrome in pediatric patients remain obscure. This case series included 11 patients (8 males, 3 females, age 3-15 years) of PRES during September 2010 to February 2012 out of a total 660 renal pediatric patients (1.66%). We studied their clinical profile, contributory factors, and outcome. Presenting symptoms were headache in 73%, dimness of vision or cortical blindness in 36%, seizures in 91%, and altered mentation in 55%. The associated renal diseases were acute renal failure (55%), chronic renal failure (9%), and 36% had normal renal function. The contributory factors were uncontrolled hypertension (100%), severe hypoproteinemia (9%), persistent hypocalcemia (9%), hemolytic uremic syndrome (36%), cyclosporine toxicity (9%), lupus nephritis (9%), high hematocrit (9%), and pulse methylprednisolone (9%). Brain imaging showed involvement of occipito-parietal area (100%) and other brain areas (63%). All but one patient of hemolytic uremic syndrome had complete clinical neurological recovery in a week, and all had normal neurological imaging after 4-5 weeks. PRES is an underdiagnosed entity in pediatric renal disease patients. Associated hypertension, renal disease, and immunosuppressive treatment are important triggers. Early diagnosis and treatment of comorbid conditions is of prime importance for early reversal of syndrome. PMID:24574628

  8. Reversible cerebral vasoconstriction syndrome associated with brain parenchymal hemorrhage.

    PubMed

    Kazato, Yuko; Fujii, Katsunori; Oba, Hiroshi; Hino, Moeko; Ochiai, Hidemasa; Uchikawa, Hideki; Kohno, Yoichi

    2012-09-01

    We described a 7-year-old girl with reversible cerebral vasoconstriction syndrome associated with brain parenchymal hemorrhage. She initially presented with high fever and pancytopenia, leading to a diagnosis of most severe type aplastic anemia. We treated her with cyclosporine, methylprednisolone and anti-thymocyte globulin. Thereafter she recurrently complained of a very severe headache called as thunderclap, and finally exhibited loss of consciousness. Brain imaging revealed massive parenchymal hemorrhage between the left occipital and parietal lobes on computed tomography, and diffuse cerebral vasoconstriction on magnetic resonance angiography. The cerebral vasoconstriction resolved within two months, and thus we diagnosed her as having reversible cerebral vasoconstriction syndrome associated with brain parenchymal hemorrhage. This syndrome has been frequently reported in adult females, but rarely in children. However, even in children, a so called thunderclap headache may become a clue for the diagnosis of reversible cerebral vasoconstriction syndrome, especially in cases taking immunosuppressive agents. Immediate magnetic resonance angiography is essential to diagnose this syndrome, and a prompt application of calcium channel inhibitors should be considered to resolve constriction of the vessels and to prevent subsequent brain damage. Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  9. Reverse mutation in fragile X syndrome

    SciTech Connect

    Antinolo, G.; Borrego, S.; Cabeza, J.C.

    1996-01-01

    The fragile X syndrome is the most common cause of familial mental retardation, with an incidence of {approximately}1/1,500 in males and 1/2,500 in females. The clinical expression includes moderate to severe mental retardation, macroorchidism, dysmorphic facial features and behavior disturbances. In 1991, the FMR-1 gene was isolated from the region of the fragile X site. The fragile X phenotype has been found, in most cases, to be characterized at the molecular level by expansion of a (CGG){sub n} repeat and hypermethylation of a CpG island identified in the 5{prime}-UTR of the FMR-1 gene. It has been proposed, and some evidence has been shown, that germ cells carry only premutation alleles and that expansion occurs at a postzygotic stage. A few cases of reduction of the (CGG){sub n} repeat in fragile X syndrome have been reported. These reductions were from a larger premutation to a smaller premutation, in female-to-male transmission, from full mutation to a mosaic pattern, reduction from mosaic full-mutation/premutation females or regression from premutation to normal. We present here the novel observation of a phenotypically normal female carrying a nonmosaic full-mutation allele in somatic cells who transmits a premutation allele to her daughter. This daughter has three mosaic offspring with the full mutation and the premutation. Two of them are monozygotic (MZ) twins sharing a concordant mutation pattern. They are monoamniotic monochorionic, which indicates a late form of twinning. 20 refs., 1 fig.

  10. Targeted estrogen delivery reverses the metabolic syndrome

    PubMed Central

    Finan, Brian; Yang, Bin; Ottaway, Nickki; Stemmer, Kerstin; Müller, Timo D; Yi, Chun-Xia; Habegger, Kirk; Schriever, Sonja C; García-Cáceres, Cristina; Kabra, Dhiraj G; Hembree, Jazzminn; Holland, Jenna; Raver, Christine; Seeley, Randy J; Hans, Wolfgang; Irmler, Martin; Beckers, Johannes; de Angelis, Martin Hrabě; Tiano, Joseph P; Mauvais-Jarvis, Franck; Perez-Tilve, Diego; Pfluger, Paul; Zhang, Lianshan; Gelfanov, Vasily; DiMarchi, Richard D; Tschöp, Matthias H

    2013-01-01

    We report the development of a new combinatorial approach that allows for peptide-mediated selective tissue targeting of nuclear hormone pharmacology while eliminating adverse effects in other tissues. Specifically, we report the development of a glucagon-like peptide-1 (GLP-1)-estrogen conjugate that has superior sex-independent efficacy over either of the individual hormones alone to correct obesity, hyperglycemia and dyslipidemia in mice. The therapeutic benefits are driven by pleiotropic dual hormone action to improve energy, glucose and lipid metabolism, as shown by loss-of-function models and genetic action profiling. Notably, the peptide-based targeting strategy also prevents hallmark side effects of estrogen in male and female mice, such as reproductive endocrine toxicity and oncogenicity. Collectively, selective activation of estrogen receptors in GLP-1–targeted tissues produces unprecedented efficacy to enhance the metabolic benefits of GLP-1 agonism. This example of targeting the metabolic syndrome represents the discovery of a new class of therapeutics that enables synergistic co-agonism through peptide-based selective delivery of small molecules. Although our observations with the GLP-1–estrogen conjugate justify translational studies for diabetes and obesity, the multitude of other possible combinations of peptides and small molecules may offer equal promise for other diseases. PMID:23142820

  11. Management of Posterior Reversible Syndrome in Preeclamptic Women

    PubMed Central

    Poma, S.; Delmonte, M. P.; Gigliuto, C.; Imberti, R.; Delmonte, M.; Arossa, A.; Iotti, G. A.

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a neurological syndrome associated with a number of conditions including preeclampsia. It is characterized by seizures, alteration of consciousness, visual disturbances, and symmetric white matter abnormalities, typically in the posterior parietooccipital regions of the cerebral hemispheres, at computed tomography (CT) and magnetic resonance (MRI). We report three new cases of PRES in preeclamptic patients and describe the management of these patients. We present a brief review of other cases in the literature, with particular attention to the anesthetic management. PMID:25506009

  12. A Pediatric Case of Reversible Cerebral Vasoconstriction Syndrome With Similar Radiographic Findings to Posterior Reversible Encephalopathy Syndrome.

    PubMed

    Kamide, Tomoya; Tsutsui, Taishi; Misaki, Kouichi; Sano, Hiroki; Mohri, Masanao; Uchiyama, Naoyuki; Nakada, Mitsutoshi

    2017-06-01

    Reversible cerebral vasoconstriction syndrome occurs predominantly in middle-aged women. Only nine pediatric patients with this syndrome have been reported. We present a ten-year-old boy with reversible cerebral vasoconstriction syndrome with radiographic findings similar to those of posterior reversible encephalopathy syndrome (PRES). He presented with a thunderclap headache without a neurological deficit. Brain magnetic resonance angiography (MRA) revealed multifocal narrowing of the cerebral arteries, whereas magnetic resonance imaging (MRI) with diffusion-weighted imaging and fluid-attenuated inversion recovery demonstrated hyperintense lesions in the occipital lobes and the left cerebellum. The patient's symptoms resolved spontaneously after a few hours with no recurrence. MRA on the second day showed a complete normalization of the affected arteries, and MRI after one month demonstrated improvement in the abnormal findings, leading to a diagnosis of RCVS with radiographic findings similar to those of PRES. This child's findings suggests that, RCVS, with or without PRES, may occur in children who present with a thunderclap headache. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Reversible Hypertensive Myelopathy-The Spinal Cord Variant of Posterior Reversible Encephalopathy Syndrome.

    PubMed

    Gocmen, Rahsan; Ardicli, Didem; Erarslan, Yasin; Duzova, Ali; Anlar, Banu

    2017-04-01

    The posterior reversible encephalopathy syndrome (PRES) is a well-known clinical and radiologic entity mainly affecting the territory of the posterior cerebral circulation. Spinal cord involvement is extremely rare, and as of yet, only a few cases have been reported in the literature. The present case describes a reversible, longitudinal spinal cord lesion in a patient with high blood pressure. We discuss the differential diagnosis of longitudinal myelopathy and focus on the clinical presentation, diagnosis, and management of the "spinal cord variant of PRES." Georg Thieme Verlag KG Stuttgart · New York.

  14. Reversible electrocardiogram changes and cardiomyopathy secondary to baclofen withdrawal syndrome.

    PubMed

    Kireyev, Dmitriy; Poh, Kian-Keong

    2010-01-01

    Baclofen withdrawal syndrome is a rare and potentially life-threatening condition manifesting with autonomic dysreflexia, high fevers, spasticity, seizures, and multiorgan failure. Reversible cardiomyopathy due to this condition is extremely rare. A high level of suspicion is needed to recognize this condition and start an early intervention to improve patient outcome. Electrocardiographic ST-segment elevation in lead aVR was previously described in association with left main, left anterior descending, and triple-vessel coronary artery disease as well as Takotsubo cardiomyopathy. In this article we present a rare case of reversible cardiomyopathy due to baclofen withdrawal syndrome associated with diffuse ST-segment depressions and ST-segment elevation in lead aVR.

  15. Reversible posterior leucoencephalopathy syndrome associated with bone marrow transplantation.

    PubMed

    Teive, H A; Brandi, I V; Camargo, C H; Bittencourt, M A; Bonfim, C M; Friedrich, M L; de Medeiros, C R; Werneck, L C; Pasquini, R

    2001-09-01

    Reversible posterior leucoencephalopathy syndrome (RPLS) has previously been described in patients who have renal insufficiency, eclampsia, hypertensive encephalopathy and patients receiving immunosuppressive therapy. The mechanism by which immunosuppressive agents can cause this syndrome is not clear, but it is probably related with cytotoxic effects of these agents on the vascular endothelium. We report eight patients who received cyclosporine A (CSA) after allogeneic bone marrow transplantation or as treatment for severe aplastic anemia (SSA) who developed posterior leucoencephalopathy. The most common signs and symptoms were seizures and headache. Neurological dysfunction occurred preceded by or concomitant with high blood pressure and some degree of acute renal failure in six patients. Computerized tomography studies showed low-density white matter lesions involving the posterior areas of cerebral hemispheres. Symptoms and neuroimaging abnormalities were reversible and improvement occurred in all patients when given lower doses of CSA or when the drug was withdrawn. RPLS may be considered an expression of CSA neurotoxicity.

  16. Reversible cerebral vasoconstriction syndrome: rare or underrecognized in children?

    PubMed

    Probert, Rebecca; Saunders, Dawn E; Ganesan, Vijeya

    2013-04-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a clinicoradiological diagnosis comprising 'thunderclap' headaches and reversible segmental vasoconstriction of cerebral arteries, occasionally complicated by ischaemic or haemorrhagic stroke. We report a case of RCVS in a 13-year-old male with severe thunderclap headaches and no focal neurological signs. Brain imaging showed multiple posterior circulation infarcts; cerebral computed tomography, magnetic resonance imaging, and catheter angiography showed multifocal irregularity and narrowing, but in different arterial segments. Laboratory studies did not support a diagnosis of vasculitis. Symptoms resolved over 3 weeks; magnetic resonance angiography 3 months later was normal and remained so after 2 years. We highlight the typical clinical features of RCVS in this case and suggest that the diagnosis should be considered in children with thunderclap headaches or stroke syndromes where headache is a prominent feature, especially if cerebrovascular imaging studies appear to be evolving or discrepant. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

  17. Reversible cerebral vasoconstriction in Guillain-Barré syndrome.

    PubMed

    Wei, Diana Y; Kao, Justin; Wu, Teddy Y; Pereira, Jennifer A; Anderson, Neil E; Alan Barber, P

    2015-07-01

    We present a 51-year-old woman with clinical and neurophysiological evidence of Guillain-Barré syndrome (GBS) who developed a generalised headache and autonomic dysfunction with sinus tachycardia, hypertension, gastrointestinal motility symptoms and urinary retention. MRI/MRA demonstrated cerebral vasoconstriction and a small convexity subarachnoid haemorrhage which resolved after 3 months. Reversible cerebral vasoconstriction syndrome (RCVS) is characterised by headache, focal neurological deficits or seizures, and reversible cerebral vasoconstriction. To our knowledge, this is the first reported case of RCVS complicating autonomic dysfunction in GBS. This case depicts a rare complication of a common condition and also sheds light on the potential mechanism of RCVS. Neurologists should be aware that autonomic dysfunction can lead to RCVS in GBS. Copyright © 2015 Elsevier Ltd. All rights reserved.

  18. Epinephrine-induced posterior reversible encephalopathy syndrome: a case report.

    PubMed

    Gharabawy, Ramez; Pothula, Vijayasimha R; Rubinshteyn, Vladimir; Silverberg, Michael; Gave, Asaf A

    2011-09-01

    Posterior reversible encephalopathy syndrome (PRES) is a rare disorder that is usually associated with hypertensive crises. It is often missed but may be diagnosed by head computed tomographic (CT) scan or magnetic resonance imaging. An adolescent man presented for elective right shoulder arthroscopic bankart repair. Arthroscopy was performed using a solution of normal saline with 3.3 mg/L of epinephrine for irrigation. Postoperatively, the patient presented with hypertension and epileptiform activity. A CT scan of the head showed PRES.

  19. Posterior reversible encephalopathy syndrome in children: a case series

    PubMed Central

    Emeksiz, Serhat; Kutlu, Nurettin Onur; Çaksen, Hüseyin; Alkan, Gülsüm; Yıkmaz, Hülya Şeker; Tokgöz, Hüseyin

    2016-01-01

    Posterior reversible encephalopathy syndrome is characterized by hypertension, seizure, headache, clouding of consciousness, and visual disturbance, and is diagnosed in the presence of typical lesions on magnetic resonance imaging. We retrospectively evaluated five patients who were diagnosed as having posterior reversible encephalopathy syndrome and followed up in Meram Medical Faculty, Pediatric Intensive Care and Hematology wards, between January 2010 and January 2014. We reviewed the demographic and clinical data, and neuroimaging findings. The primary diseases of the subjects included acute lymphocytic leukemia (n=2), Henoch-Schönlein purpura (n=1), systemic lupus erythematous (n=1), and acute poststreptococcal glomerulonephritis (n=1). The mean age was 10±4.58 years (range, 5–14 years). Acute elevation of blood pressure was found in all patients (n=5). Initial neurologic manifestations included seizure, clouding of consciousness, headache, and visual disturbance. After the diagnosis was made through clinical evaluations and magnetic resonance imaging, complete clinical recovery was obtained in all patients with the appropriate therapeutic approach. In conclusion, posterior reversible encephalopathy syndrome should be considered in the differential diagnosis of patients who present with encephalopathy and underlying diseases such as nephritis, vasculitis, malignancy accompanied by hypertension, and a history of use of medication. PMID:28123335

  20. Reversible Cerebral Vasoconstriction Syndrome, Part 1: Epidemiology, Pathogenesis, and Clinical Course.

    PubMed

    Miller, T R; Shivashankar, R; Mossa-Basha, M; Gandhi, D

    2015-08-01

    Reversible cerebral vasoconstriction syndrome is a clinical and radiologic syndrome that represents a common presentation of a diverse group of disorders. The syndrome is characterized by thunderclap headache and reversible vasoconstriction of cerebral arteries, which can either be spontaneous or related to an exogenous trigger. The pathophysiology of reversible cerebral vasoconstriction syndrome is unknown, though alterations in cerebral vascular tone are thought to be a key underlying mechanism. The syndrome typically follows a benign course; however, reversible cerebral vasoconstriction syndrome may result in permanent disability or death in a small minority of patients secondary to complications such as ischemic stroke or intracranial hemorrhage. © 2015 by American Journal of Neuroradiology.

  1. Multiple cavitations in posterior reversible leukoencephalopathy syndrome associated with hemolytic-uremic syndrome.

    PubMed

    Fujii, Katsunori; Matsuo, Kaoru; Takatani, Tomozumi; Uchikawa, Hideki; Kohno, Yoichi

    2012-04-01

    We describe a 4-year-old boy with posterior reversible leukoencephalopathy syndrome associated with hemolytic-uremic syndrome. He exhibited bloody stool by Escherichia coli O157: H7 infection with acute renal failure. He subsequently presented high blood pressure, followed by visual disturbance and loss of consciousness. Brain MRI revealed bilateral occipital high intensities by T2-weighted images and high value by apparent diffusion coefficient map, thus we made a diagnosis of posterior reversible leukoencephaly syndrome associated with hemolytic-uremic syndrome. In spite of immediate blood pressure control, occipital lesions developed day by day, resulting in multiple subcortical cavitations. Although posterior reversible leukoencephalopathy syndrome is originally characterized by reversible vasogenic edema, this case rarely resulted in irreversible changes with cystic formation. We concluded that precipitating factors, i.e., clotting abnormalities, Shiga toxin, vasospasms and endothelial dysfunction might have synergistically induced irreversible brain infarcts, and caused unusual cavitations. Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  2. Reversible cerebral vasoconstriction syndrome in association with fingolimod use.

    PubMed

    Belliston, Scott; Sundararajan, Jayshree; Hammond, Nancy; Newell, Kathy; Lynch, Sharon

    2017-09-01

    Reversible cerebral vasoconstriction syndrome (RCVS), also known as Call-Fleming syndrome, is characterized by thunderclap headaches, non-aneurysmal segmental cerebral vasoconstriction seen on arteriogram, and spontaneously resolves within 12 weeks. Fingolimod has been reported to cause posterior reversible encephalopathy syndrome (PRES) and one case of RCVS. We report a case of RCVS possibly related to fingolimod use, and compare to cases of adverse outcomes in fingolimod use. This is a single observational study without controls; therefore, level of evidence is IV. A literature review in pubmed with keywords, fingolimod, vasospasm, RCVS, Call-Fleming, stroke, PRES and hemorrhage. One case of RCVS on fingolimod in the post-partum period. Two other cases in the literature were found one with hemorrhagic encephalitis and the other critical vasospasm in the upper extremity associated with fingolimod 1.25 mg daily in the FREEDOMS II trial and TRANSFORMS study, respectively. Additionally, Novartis reports nine cases of PRES related to fingolimod use. Fingolimod has the potential to cause vasoconstriction however appears to be rare and more likely on doses higher than 0.5 mg daily. Fingolimod may be associated in RCVS and should be considered in patients with severe headache on fingolimod.

  3. Reversible Cerebral Vasoconstriction Syndrome Without Typical Thunderclap Headache.

    PubMed

    Wolff, Valérie; Ducros, Anne

    2016-04-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by severe headache and diffuse segmental intracranial arterial constriction that resolve within three months. Stroke, which is the major complication of RCVS, can result in persistent neurological disability, and rarely causes death. Diagnosis of RCVS early in the clinical course might improve outcomes. Although recurrent thunderclap headache is the clinical hallmark of RCVS, the absence of such a pattern should not lead to discard the diagnosis. Our literature review shows that RCVS can also manifest as an unspecific headache, such as a single severe headache episode, a mild or a progressive headache. Moreover, a subset of patients with severe RCVS presents without any headache, but frequently with seizures, focal neurological deficits, confusion or coma, in the setting of stroke or posterior reversible encephalopathy syndrome. These patients may be aphasic or in comatose state, explaining their inability to give their own medical history. They may have forgotten the headache they had a few days before more dramatic symptoms, or may have a variant of the classical RCVS. By consequence, an RCVS should be suspected in patients with any unusual headache, whether thunderclap or not, and in patients with cryptogenic stroke or convexity subarachnoid hemorrhage, whether the patient also has headache or not. Diagnosis in such cases relies on the demonstration of reversible multifocal intracranial arterial stenosis and the exclusion of other causes.

  4. Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome: A Case Report.

    PubMed

    Magno Pereira, Vítor; Marote Correia, Luís; Rodrigues, Tiago; Serrão Faria, Gorete

    2016-09-01

    The posterior reversible encephalopathy syndrome is a neurological syndrome characterized by headache, confusion, visual disturbances and seizures associated with identifiable areas of cerebral edema on imaging studies. The authors report the case of a man, 33 years-old, leukodermic with a history of chronic alcohol and tobacco consumption, who is admitted to the emergency department for epigastric pain radiating to the back and vomiting with about six hours of evolution and an intense holocranial headache for two hours. His physical examination was remarkable for a blood pressure of 190/100 mmHg and tenderness in epigastrium. His analytical results revealed emphasis on amylase 193 U/L and lipase 934 U/L. During the observation in the emergency department,he presented a generalized tonic-clonic seizure. Abdominal ultrasonography was performed and suggestive of pancreatitis withoutgallstones signals. Head computed tomography showed subarachnoid haemorrhage and a small right frontal cortical haemorrhage. The brain magnetic resonance imaging done one week after admission showed areas of a bilateral and symmetrical T2 / FLAIR hyperintensities in the subcortical white matter of the parietal and superior frontal regions, suggesting a diagnosis of posterior reversible encephalopathy syndrome. Abdominal computed tomography (10 days after admission) demonstrated a thickened pancreas in connection with inflammation and two small hypodense foci in the anterior part of the pancreas body, translating small foci of necrosis. The investigation of a thrombophilic defect revealed a heterozygous G20210A prothrombin gene mutation. The patient was discharged without neurological sequelae and asymptomatic. The follow-up brain magnetic resonance imaging confirmed the reversal of the lesions, confirming the diagnosis.

  5. Hippocampal sclerosis and chronic epilepsy following posterior reversible encephalopathy syndrome.

    PubMed

    Kapina, Viktoria; Vargas, Maria-Isabel; Wohlrab, Gabriele; Vulliemoz, Serge; Fluss, Joel; Seeck, Margitta

    2013-12-01

    Chronic epilepsy has rarely been reported after posterior reversible encephalopathy syndrome (PRES) and the association with hippocampal sclerosis has been suggested only once before. We report the case of a girl admitted at the age of 8 years with idiopathic nephrotic syndrome. On the second day of admission, she presented with focal complex seizures and cerebral MRI showed posterior encephalopathy and no hippocampal sclerosis. MRI after one month confirmed the diagnosis of PRES. The seizures recurred and the girl developed pharmacoresistant epilepsy and was admitted to our hospital for further investigation. Cerebral MRI three years after the diagnosis of PRES showed hippocampal sclerosis which was not present on the initial MRI. We conclude that there is a triggering role of PRES in the development of hippocampal sclerosis. Hippocampal sclerosis may have resulted from seizure-associated damage, alternatively, hypertensive encephalopathy may have led to hippocampal damage via a vascular mechanism.

  6. Posterior reversible encephalopathy syndrome following a scorpion sting.

    PubMed

    Porcello Marrone, Luiz Carlos; Marrone, Bianca Fontana; Neto, Felipe Kalil; Costa, Francisco Cosme; Thomé, Gustavo Gomes; Aramburu, Martin Brandolt; Schilling, Lucas Porcello; Pascoal, Tharick Ali; Gadonski, Giovani; Huf Marrone, Antônio Carlos; da Costa, Jaderson Costa

    2013-10-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiologic entity not yet understood, that is present with transient neurologic symptoms and particular radiological findings. The most common imaging pattern in PRES is the presence of edema in the white matter of the posterior portions of both cerebral hemispheres. The cause of PRES is unclear. We report a case of 13-year-old male who was stung by a scorpion and developed a severe headache, visual disturbance, and seizures and had the diagnosis of PRES with a good outcome. Numerous factors can trigger this syndrome, most commonly: acute elevation of blood pressure, abnormal renal function, and immunosuppressive therapy. There are many cases described showing the relationship between PRES and eclampsia, transplantation, neoplasia and chemotherapy treatment, systemic infections, renal disease acute, or chronic. However, this is the first case of PRES following a scorpion sting.

  7. A reversible posterior leucoencephalopathy syndrome including blindness caused by preeclampsia

    PubMed Central

    Vandenbossche, G; Maquet, J; Vroonen, P; Lambert, G; Nisolle, M; Kridelka, F; Emonts, E

    2016-01-01

    Complications of (pre)eclampsia may involve multiple systems and organs. Neurological symptoms may occur. Visual symptoms concern up to 25% the of patients with severe preeclampsia and 50% of the patients with eclampsia. An uncommon effect of severe preeclampsia is sudden blindness. Blindness may be part of a clinical and radiological presentation named Posterior Reversible Encephalopathy Syndrome (PRES). PRES may lead to permanent neurological deficit, recurrences or death. We report the case of a 24-year-old Caucasian patient, gravida 5 para 2 who developed preeclampsia and PRES complicated with blindness at 32 weeks of gestation. Optimal care allowed visual symptoms to resolve within 24 hours and a favourable maternal outcome and no long- term sequelae. We describe different causes and manifestations of PRES and highlight the need for immediate care in order to optimize the chance of symptoms reversibility. PMID:28003872

  8. Posterior reversible encephalopathy syndrome associated with left horizontal gaze palsy

    PubMed Central

    Studyvin, Sarah; Al-Halawani, Moh’d; Amireh, Sawsan; Thawabi, Mohammad

    2017-01-01

    Posterior reversible encephalopathy syndrome (PRES) is characterized by rapid onset of symptoms including headache, seizures, altered consciousness, and visual disturbance, as well as radiologic findings of focal reversible vasogenic edema. Multiple visual disturbances have been described in PRES, such as hemianopia, visual neglect, auras, visual hallucinations, and cortical blindness. However, horizontal gaze palsy has not been previously reported. We report a 72-year-old female who presented with blurred vision, severe headache, lethargy, and later developed seizures. She was found to have left horizontal gaze palsy with intact vestibulo-ocular reflex. Brain magnetic resonance imaging (MRI) showed severe edema throughout the subcortical white matter, and signal in the posterior parietal and occipital lobes. She was diagnosed with PRES associated with supranuclear gaze palsy. PMID:28361069

  9. Study of Posterior Reversible Encephalopathy Syndrome in Children With Acute Lymphoblastic Leukemia After Induction Chemotherapy.

    PubMed

    Tang, Ji-Hong; Tian, Jian-Mei; Sheng, Mao; Hu, Shao-Yan; Li, Yan; Zhang, Li-Ya; Gu, Qing; Wang, Qi

    2016-03-01

    Increasing occurrence of posterior reversible encephalopathy syndrome has been reported in children with acute lymphoblastic leukemia. However, the etiology of posterior reversible encephalopathy syndrome is not clear. To study the possible pathogenetic mechanisms and treatment of this complication, we reported 11 cases of pediatric acute lymphoblastic leukemia who developed posterior reversible encephalopathy syndrome after induction chemotherapy. After appropriate treatment, the clinical symptoms of posterior reversible encephalopathy syndrome in most cases disappeared even though induction chemotherapy continued. During the 1-year follow-up, no recurrence of posterior reversible encephalopathy syndrome was observed. Although the clinical and imaging features of posterior reversible encephalopathy syndrome may be diverse, posterior reversible encephalopathy syndrome should be recognized as a possible important complication of acute lymphoblastic leukemia when neurologic symptoms appear. In line with previous reports, our study also indicated that posterior reversible encephalopathy syndrome was reversible when diagnosed and treated at an early stage. Thus, the occurrence of posterior reversible encephalopathy syndrome should be considered and investigated to optimize the early induction scheme of acute lymphoblastic leukemia treatment.

  10. Reversible hypertensive encephalomyelopathy - the spinal variant of the posterior reversible encephalopathy syndrome.

    PubMed

    Wu, Teddy Y; Wei, Diana Y; Jordan, Anthony; Kenedi, Chris; Smith, Andrew D; Kilfoyle, Dean H

    2015-05-01

    Posterior reversible encephalopathy syndrome (PRES) is characterised clinically by encephalopathy, headache, visual disturbance and/or focal neurological symptoms. Bilateral cerebral oedema on T2 MRI sequences within the posterior cerebral white matter is the radiological hallmark, although involvement of the frontal lobe, basal ganglia and brainstem can occur. PRES with spinal cord involvement has been rarely reported and is under-recognised due to lack of myelopathic features in nearly half of the reported cases. We report a patient with PRES with spinal cord involvement and review the literature.

  11. Isolated cerebellar involvement in posterior reversible encephalopathy syndrome.

    PubMed

    Li, Dujuan; Lian, Lifei; Zhu, Suiqiang

    2015-10-15

    Posterior reversible encephalopathy syndrome (PRES) is a serious and increasingly recognized disorder in humans. However, isolated cerebellar involvement in PRES is extremely uncommon. In this study, we sought to investigate its clinical and radiological features by describing a cohort of cases with PRES and isolated cerebellar involvement. We report 2 patients with PRES with only cerebellar involvement and identified additional 9 cases using the PubMed database with the MeSH terms "posterior reversible encephalopathy syndrome", "hypertensive encephalopathy", "hypertension", "cerebellum", "encephalopathy", and "magnetic resonance imaging". We then collectively analyzed the clinical and imaging characteristics of these 11 cases. The average age was 28years, with 8 male and 3 female patients. All cases had severe acute hypertension and T2 hyperintensity on MRI exclusively centered within the cerebellum. Of 11 patients, 7 had hypertensive retinopathy, a favorable clinical course with only antihypertensive treatment, and resolution of the cerebellar lesions on follow-up imaging. A total of 5 of the 11 patients received external ventricular drainage due to obstructive hydrocephalus and only 2 of the 11 had a seizure. Isolated cerebellar involvement in PRES may be a unique variant that affects younger, male cases with severe acute hypertension and hypertensive retinopathy, but not necessarily seizure. Most patients have full recovery after fast control of blood pressure. Awareness of atypical neuroimaging features in PRES is critical for appropriate treatment. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. [Reversible cerebral vasoconstriction syndrome (RCVS) triggered by nicotine patches].

    PubMed

    Hijikata, Yasuhiro; Watanabe, Hirohisa; Ito, Mizuki; Yoneyama, Noritaka; Atsuta, Naoki; Sobue, Gen

    2013-01-01

    We present a case of a patient with reversible cerebral vasoconstriction syndrome (RCVS) triggered by nicotine patches. A-50-year-old woman had no medical history and no regular medication. She smoked 20 cigarettes a day for 30 years. Six days after using nicotine patches, she had recurrent severe headaches of sudden onset (thunderclap headaches). On examination, the blood pressure was 142/88 mmHg. Her neurological and general examination, laboratory serum investigations, and cerebrospinal fluid examination were normal. Magnetic resonance imaging (MRI) including magnetic resonance angiography (MRA) on admission, day 10 after the first episode showed severe multifocal segmental narrowing of the bilateral posterior cerebral artery (PCA). Cessation of nicotine patches and administration of calcium-channel antagonist amlodipine 5 mg daily ameliorated her headache. Follow-up MRA, 37 days after the first episode, showed improvement of PCA stenosis. We diagnosed her as reversible cerebral vasoconstriction syndrome (RCVS) due to nicotine patches. It is important to recognize nicotine patches as a trigger of RCVS.

  13. Antepartum reversible cerebral vasoconstriction syndrome with pre-eclampsia and reversible posterior leukoencephalopathy.

    PubMed

    Tanaka, Kei; Matsushima, Miho; Matsuzawa, Yukiko; Wachi, Yuichi; Izawa, Tomoko; Sakai, Keiji; Kobayashi, Yoichi; Iwashita, Mitsutoshi

    2015-11-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by severe headache and diffuse segmental constriction of the cerebral arteries that resolves spontaneously within a few months. Pregnancy is one of the precipitating factors of RCVS and most of the reported cases occurred in the post-partum period. We report a case of RCVS that occurred in a pregnant women with pre-eclampsia during her antepartum period. A 34-year-old woman in full-term pregnancy presented with a severe and acute headache. Magnetic resonance angiography (MRA) showed multiple segmental constrictions of the cerebral arteries. Magnetic resonance imaging revealed a high-intensity lesion in the left occipital lobe, consistent with reversible posterior leukoencephalopathy syndrome, on fluid attenuated inversion recovery sequences. The case was also complicated by severe pre-eclampsia and the patient underwent emergency cesarean section. Although her symptoms resolved rapidly, MRA revealed new lesions of arterial constriction 4 days after onset. The vasoconstriction completely resolved on MRA after 10 days and the patient was discharged without neurological sequelae. © 2015 Japan Society of Obstetrics and Gynecology.

  14. Reversible cerebral vasoconstriction syndrome identification of prognostic factors.

    PubMed

    Robert, Th; Kawkabani Marchini, A; Oumarou, G; Uské, A

    2013-11-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is described as a clinical and radiological entity characterized by thunderclap headaches, a reversible segmental or multifocal vasoconstriction of cerebral arteries with or without focal neurological deficits or seizures. The purpose of this study is to determine risk factors of poor outcome in patients presented a RCVS. A retrospective multi-center review of invasive and non-invasive neurovascular imaging between January 2006 and January 2011 has identified 10 patients with criterion of reversible segmental vasoconstriction syndrome. Demographics data, vascular risks and evolution of each of these patients were analyzed. Seven of the ten patients were females with a mean age of 46 years. In four patients, we did not found any causative factors. Two cases presented RCVS in post-partum period between their first and their third week after delivery. The other three cases were drug-induced RCVS, mainly vaso-active drugs. Cannabis was found as the causative factor in two patient, Sumatriptan identified in one patient while cyclosporine was the causative agent in also one patient. The mean duration of clinical follow-up was 10.2 months (range: 0-28 months). Two patients had neurological sequelae: one patient kept a dysphasia and the other had a homonymous lateral hemianopia. We could not find any significant difference of the evolution between secondary RCVS and idiopathic RCVS. The only two factors, which could be correlated to the clinical outcome were the neurological status at admission and the presence of intraparenchymal abnormalities (ischemic stroke, hematoma) in brain imaging. Fulminant vasoconstriction resulting in progressive symptoms or death has been reported in exceptional frequency. Physicians had to remember that such evolution could happen and predict them by identifying all factors of poor prognosis (neurological status at admission, the presence of intraparenchymal abnormalities). Published by

  15. Reversible posterior leukoencephalopathy in the course of Goodpasture syndrome.

    PubMed

    Ozkok, Abdullah; Elcioglu, Omer Celal; Bakan, Ali; Atilgan, Kadir Gokhan; Alisir, Sabahat; Odabas, Ali Riza

    2012-01-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is characterized by headache, altered consciousness, seizures, and cortical blindness. The most frequent etiological factors are hypertension, kidney diseases, and immunosuppressive drugs such as steroids and cyclophosphamide. Herein we present a case of a 22-year-old female patient presented with alveolar hemorrhage and acute renal failure necessitating hemodialysis. In renal biopsy, necrotizing crescentic glomerulonephritis and immunofluorescence pattern compatible with Goodpasture syndrome were found. Anti-glomerular basement membrane antibody result was positive. At follow-up, respiratory failure ensued, steroid pulse treatment was started, and she was transferred to intensive care unit (ICU). In the ICU, she had visual disturbances and blindness together with seizures. Cranial magnetic resonance imaging (MRI) revealed irregular T2- and fluid-attenuated inversion recovery (FLAIR)-weighted lesions in bilateral occipital lobes. On clinical and radiological grounds, RPLS was diagnosed. With the supportive and anti-hypertensive treatment, RPLS was resolved without a sequela. Subsequent cranial MRI was totally normal. In the literature, RPLS associated with Goodpasture syndrome was reported only once. Hypertension and methylprednisolone might be the responsible etiologies in this case.

  16. Reversible splenial lesion syndrome associated with lobar pneumonia

    PubMed Central

    Li, Chunrong; Wu, Xiujuan; Qi, Hehe; Cheng, Yanwei; Zhang, Bing; Zhou, Hongwei; Lv, Xiaohong; Liu, Kangding; Zhang, Hong-Liang

    2016-01-01

    Abstract Background: Reversible splenial lesion syndrome (RESLES) is a rare clinico-radiological disorder with unclear pathophysiology. Clinically, RESLES is defined as reversible isolated splenial lesions in the corpus callosum, which can be readily identified by magnetic resonance imaging (MRI) and usually resolve completely over a period of time. RESLES could be typically triggered by infection, antiepileptic drugs (AEDs), poisoning, etc. More factors are increasingly recognized. Methods and results: We reported herein an 18-year-old female patient with lobar pneumonia who developed mental abnormalities during hospitalization. An isolated splenial lesion in the corpus callosum was found by head MRI and the lesion disappeared 15 days later. Based on her clinical manifestations and radiological findings, she was diagnosed with lobar pneumonia associated RESLES. We further summarize the up-to-date knowledge about the etiology, possible pathogenesis, clinical manifestations, radiological features, treatment, and prognosis of RESLES. Conclusion: This report contributes to the clinical understanding of RESLES which may present with mental abnormalities after infection. The characteristic imaging of reversible isolated splenial lesions in the corpus callosum was confirmed in this report. The clinical manifestations and lesions on MRI could disappear naturally after 1 month without special treatment. PMID:27684805

  17. Posterior Reversible Encephalopathy Syndrome (PRES) in 5-year-old girl with nephrotic syndrome.

    PubMed

    Kabicek, Pavel; Sulek, Stepan; Seidl, Zdenek; Vaneckova, Manuela; Kabickova, Edita; Vobruba, Vaclav; Wenchich, Laszlo; Zeman, Jiri

    2010-01-01

    Posterior Reversible Encephalopathy Syndrome (PRES) is a rare complication of nephrotic syndrome in children. This clinical condition is caused by localized brain angioedema mostly in parieto-occipital region and results in dramatic and acute features as sudden loss of consciousness, epileptic paroxysms, strong headache or visual disturbances. Uncontrolled hypertension often participates in PRES development. We present the case of a 5-year-old girl treated for relapse of nephrotic syndrome. At the time of edema regression and weight reduction, a sudden loss of consciousness and worsening of hypertension occurred. Brain MRI demonstrated extended multifocal changes strongly suspicious of encephalitis. After exclusion of herpetic encephalitis, the clinical picture was classified as PRES. Successful antihypertensive treatment led to general improvement of the girl's health within 48 hours and resolution of MRI brain hyperintensities occurred within the next three months. The aim of our case report is to us remind of possible development of PRES at the time of edema regression in nephrotic syndrome.

  18. Reversible operculum syndrome caused by progressive epilepsia partialis continua in a child with left hemimegalencephaly.

    PubMed Central

    Fusco, L; Vigevano, F

    1991-01-01

    In a child with left hemimegalencephaly and seizures, a reversible operculum syndrome developed when continuous epileptic discharges spread from the left hemisphere to the contralateral central regions. The operculum syndrome lasted for three months until left hemispherectomy was performed. Soon after surgery the seizures and the operculum syndrome resolved. The operculum syndrome is a facio-pharyngo-glosso-masticatory diplegia usually due to structural lesions in both opercular regions. The reversibility of the syndrome in the reported case demonstrates that the operculum syndrome is sometimes functional rather than lesional. Images PMID:1908890

  19. Posterior reversible encephalopathy syndrome in patient of severe preeclampsia with Hellp syndrome immediate postpartum.

    PubMed

    Babahabib, Moulay Abdellah; Abdillahi, Ibrahima; Kassidi, Farid; Kouach, Jaouad; Moussaoui, Driss; Dehayni, Mohammed

    2015-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a rare clinico-neuroradiologic condition, not commonly reported in the literature. PRES is an uncommon complication of severe preeclampsia/eclampsia. We report the management of one patient with postpartum preeclampsia as an association of HELLP syndrome presenting with status-epileptics. Early diagnosis along with timely supportive therapy resulted in the successful management of this challenging case. Recent understanding on the pathophysiology of this uncommon condition is discussed. We highlight the importance to obstetricians, intensive-care physicians and anesthesiologists of recognizing such cases.

  20. Reversibility of functional deficits in experimental models of Rett syndrome.

    PubMed

    Cobb, Stuart; Guy, Jacky; Bird, Adrian

    2010-04-01

    Mutations in the X-linked MECP2 gene are the primary cause of the severe autism spectrum disorder RTT (Rett syndrome). Deletion of Mecp2 in mice recapitulates many of the overt neurological features seen in humans, and the delayed onset of symptoms is accompanied by deficits in neuronal morphology and synaptic physiology. Recent evidence suggests that reactivation of endogenous Mecp2 in young and adult mice can reverse aspects of RTT-like pathology. In the current perspective, we discuss these findings as well as other genetic, pharmacological and environmental interventions that attempt phenotypic rescue in RTT. We believe these studies provide valuable insights into the tractability of RTT and related conditions and are useful pointers for the development of future therapeutic strategies.

  1. Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis

    PubMed Central

    Lee, Ki Wuk; Lee, Sang Taek

    2016-01-01

    Takayasu arteritis (TA) is a chronic inflammatory disease of unknown etiology that affects mainly the aorta, main aortic branches, and pulmonary arteries. Diverse neurological manifestations of TA have rarely been reported in children. Posterior reversible encephalopathy syndrome (PRES) is a neuroradiological condition that presents with headache, seizure, visual disturbances, and characteristic lesions on imaging. Inflammatory condition and severe hypertension in TA can cause PRES. We report of a 5-year-old girl with presumed TA who presented with PRES and chronic total occlusion in the renal artery. The findings on magnetic resonance imaging suggested PRES. Left nephrectomy was performed for total occlusion of the left renal artery, and the confirmatory diagnosis of TA was based on the pathologic findings of the renal artery. PMID:28018468

  2. Reversible Cerebral Vasoconstriction Syndrome Presenting with Transient Global Amnesia

    PubMed Central

    Isahaya, Kenji; Shinohara, Kensuke; Akamatu, Masashi; Shimizu, Takahiro; Sakurai, Kenzo; Shiraishi, Makoto; Akiyama, Hisanao; Hasegawa, Yasuhiro

    2017-01-01

    A 65-year-old man who had been diagnosed with transient global amnesia (TGA) 15 years previously was admitted to hospital with complaints of amnesia and headache. His symptoms improved on day-2. The initial brain MRI and electroencephalography findings were normal. He was diagnosed with a recurrence of TGA and discharged. However, he returned with right leg weakness and complained of a thunderclap headache. MRI demonstrated subarachnoid hemorrhage and multifocal segmental narrowing of the left posterior cerebral artery (PCA) and large intracranial arteries, and he was diagnosed with reversible cerebral vasoconstriction syndrome (RCVS). He was discharged on day-30 without any neurological deficits. This case suggested that TGA should be interpreted as one of the symptoms of RCVS or a prodromal symptom of RCVS. PMID:28626186

  3. Reversible cerebral vasoconstriction syndrome: a review of recent research.

    PubMed

    Velez, Arnaldo; McKinney, James S

    2013-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a collective term used for transient noninflammatory, nonatherosclerotic segmental constriction of cerebral arteries. The angiopathies of RCVS have previously been defined by several nomenclatures. Current opinion favors the unification of these pathophysiologically related angiopathies because of their similar angiographic features and clinical course. RCVS typically presents acutely as headache, delirium, seizure, cerebral ischemia, and/or hemorrhage. The angiographic features make RCVS an important mimic of CNS vasculitides. In contrast to CNS vasculitis, RCVS is typically a transient condition with relatively good clinical outcomes. Although a complete understanding of the etiological and pathological features of RCVS has not yet been achieved, alterations in vascular tone lead to the observed arterial changes. In this review, we aim to provide a summary of RCVS and provide insight into current perspectives of the underlying pathophysiological processes, diagnosis, and treatment.

  4. Reversible cerebral vasoconstriction syndrome precipitated by airplane descent: Case report.

    PubMed

    Hiraga, Akiyuki; Aotsuka, Yuya; Koide, Kyosuke; Kuwabara, Satoshi

    2016-08-12

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by segmental vasospasm. Vasoactive agents and childbirth have been reported as precipitating factors for RCVS; however, RCVS induced by altitude change or air travel has rarely been reported. We present a case of a 74-year-old woman who presented with thunderclap headache during airplane descent. Magnetic resonance angiography demonstrated segmental vasoconstriction that improved 9 days after onset. These findings indicate that airplane descent may be a trigger of RCVS. The time course of headache in the present case was similar to that of prolonged headache attributed to airplane travel, indicating that RCVS during air travel may have previously been overlooked and that some headache attributed to airplane travel cases may represent a milder form of RCVS. © International Headache Society 2016.

  5. Initial vasodilatation in a child with reversible cerebral vasoconstriction syndrome.

    PubMed

    Oikawa, Yoshitsugu; Okubo, Yukimune; Numata-Uematsu, Yurika; Aihara, Yu; Kitamura, Taro; Takayanagi, Masaru; Takahashi, Yukitoshi; Kure, Shigeo; Uematsu, Mitsugu

    2017-05-01

    We describe the case of a 10-year-old boy who developed reversible cerebral vasoconstriction syndrome (RCVS) after cerebellitis. He received intravenous immunoglobulin and methylprednisolone to treat the cerebellitis. However, he then presented with a sudden severe headache, vomiting, and generalized tonic-clonic seizure. Brain magnetic resonance angiography (MRA) initially revealed diffuse cerebral vasodilatations, and diffuse multifocal segmental vasoconstrictions developed several days later. His clinical symptoms gradually resolved after several days, in the absence of any specific therapy. MRA performed 46days after symptom onset showed that the multifocal segmental vasoconstrictions had resolved, suggesting a diagnosis of RCVS. The imaging features of RCVS include multifocal segmental vasoconstriction. However, our case suggests that diffuse cerebral vasodilatation may in fact be evident during the early stage of disease. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Posterior reversible encephalopathy syndrome and association with systemic lupus erythematosus.

    PubMed

    Ferreira, T S; Reis, F; Appenzeller, S

    2016-10-01

    Posterior reversible encephalopathy syndrome (PRES) is a neurological complex disorder with many clinical associations and causative factors. It is important to recognize this condition because early diagnosis and treatment usually result in its complete resolution, radiological imaging becoming the key for the correct diagnosis. We retrospectively reviewed charts and magnetic resonance imaging findings in the University of Campinas from January 2005 to July 2015, selecting three cases of patients with systemic lupus erythematosus syndrome who developed PRES, for whom risk factors, characteristics, magnetic resonance imaging findings and neurological resolution were analyzed. We also conducted a review of the English-language literature. The three cases had neurological symptoms like acute onset of headache, altered mental status, cortical blindness and seizures. Brain magnetic resonance imaging demonstrated posterior cortical and white matter alterations involving posterior brain territories, which were more conspicuous on T2-weighted and fluid-attenuated inversion recovery. Spectroscopy, diffusion-weighted imaging and susceptibility-weighted imaging were also important for neuroradiological evaluation. Immunosuppressive drugs were taken in all cases. Partial clinical and radiological recovery was observed in two cases, and complete resolution was observed in the third patient. We found 52 cases of PRES in systemic lupus erythematosus patients. Almost all patients were women 94%, ranging from 8 to 62 years old. Posterior brain territory involvements were found in 98% of patients. Hemorrhagic complications involved 26% of patients, becoming a risk factor for clinical sequels. The total percentage of patients with no complete resolution of radiological findings on follow-up images was 27.5%. In patients with autoimmune disorders, endothelial dysfunction may occur secondary to autoimmunity and the use of cytotoxic drugs, supposedly facilitating the occurrence of more

  7. Hyperintense vessels on flair imaging in reversible cerebral vasoconstriction syndrome.

    PubMed

    Chen, Shih-Pin; Fuh, Jong-Ling; Lirng, Jiing-Feng; Wang, Shuu-Jiun

    2012-03-01

    To study the frequency and significance of distal hyperintense vessels (HVs) on fluid-attenuated inversion recovery (FLAIR) imaging in patients with reversible cerebral vasoconstriction syndrome (RCVS). Patients with RCVS were recruited during 2002 through 2009. Prominence and location of HVs on FLAIR images during the acute and recovery stages were documented. Clinical profiles, vasoconstriction scores, mean flow velocities of the middle cerebral artery (V(MCA)) and posterior cerebral artery (V(PCA)), and the Lindegaard index (LI) were collected for analysis. Ninety-five patients with RCVS (11M/84F, mean age 47.8 ± 10.9 years) were recruited. Twenty-one (22.1%) had FLAIR HVs, which were noted at a mean of 14.3 ± 12.7 days and resolved by 44.9 ± 18.8 days. Compared with patients without HVs, patients with this finding had higher vasoconstriction scores for all arterial segments; higher V(MCA) (121.0 ± 39.5 cm/s vs. 93.3 ± 27.8, p = 0.002), V(PCA) (73.3 ± 35.0 vs. 50.5 ± 17.8 cm/s, p = 0.010), and LI (2.8 ± 1.2 vs. 1.9 ± 0.5, p = 0.018), and complications such as posterior reversible encephalopathy syndrome (PRES) [8/21 (38%) vs. 0/74 (0%), p < 0.001] or ischemic stroke [5/21 (24%) vs. 1/74 (1%), p = 0.002]. HVs in patients with RCVS might be attributed to the failure of cerebrospinal fluid (CSF) signal nulling on FLAIR imaging due to severe cerebral hemodynamic derangements and were associated with more frequent ischemic complications.

  8. Posterior reversible encephalopathy and cerebral vasoconstriction in a patient with hemolytic uremic syndrome.

    PubMed

    Agarwal, Rajkumar; Davis, Cresha; Altinok, Deniz; Serajee, Fatema J

    2014-05-01

    We report a patient with hemolytic uremic syndrome who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome. A 13-year-old girl presented with fever and bloody diarrhea and progressed to develop hemolytic uremic syndrome. She subsequently developed encephalopathy, aphasia, and right-sided weakness. Brain magnetic resonance imaging showed presence of vasogenic edema in the left frontal lobe, in addition to T2 and fluid-attenuated inversion recovery changes in white matter bilaterally, compatible with posterior reversible encephalopathy syndrome. Magnetic resonance angiography showed beading of the cerebral vessels. Neurological deficits reversed 8 days after symptom onset, with resolution of the beading pattern on follow-up magnetic resonance angiography after 3 weeks, suggesting reversible cerebral vasoconstriction syndrome. Both posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome may represent manifestations of similar underlying pathophysiologic mechanisms. Recognition of the co-existence of these processes in patients with hemolytic uremic syndrome may aid in judicious management of these patients and avoidance of inappropriate therapeutic interventions. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. Reversible cerebral vasoconstriction syndrome: updates and new perspectives.

    PubMed

    Sheikh, Huma U; Mathew, Paul G

    2014-05-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is an important cause of headaches that can lead to other neurological complications, including stroke, if not recognized early. Over the past few years, there has been great progress in the recognition of this entity. However, there is still much to be learned about its pathophysiology and optimal treatment strategies. RCVS occurs mostly in middle-aged adults, and there is a female preponderance with an increased incidence during the postpartum period. A consistent, predominating feature is a sudden-onset, severe headache that is frequently recurrent, usually over the span of a week. Less common presentations include seizures or focal neurological symptoms. Important causative factors include vasoactive medications, as well as illicit drugs like marijuana and cocaine. The current underlying pathophysiology is thought to be a disturbance in cerebrovascular tone leading to vasoconstriction. The diagnosis is based on history, physical examination, and cerebrovascular imaging findings that demonstrate multifocal, segmental areas of vasoconstriction in large- and medium-sized arteries. An important criterion for making the diagnosis is the eventual reversibility of symptoms and imaging findings.

  10. Microcirculation Approach in HELLP Syndrome Complicated by Posterior Reversible Encephalopathy Syndrome and Massive Hepatic Infarction

    PubMed Central

    Sarmento, Stephanno Gomes Pereira; Santana, Eduardo Feliz Martins; Campanharo, Felipe Favorette; Machado, Flavia Ribeiro; Moron, Antonio Fernandes

    2014-01-01

    HELLP syndrome is a complication of severe forms of preeclampsia and occurs mainly in the third trimester of pregnancy. In extreme cases, it may evolve unfavorably and substantially increase maternal mortality. We present the case of an 18-year-old pregnant woman who was admitted to our emergency service in her 31st week, presenting with headache, visual disturbances, and epigastralgia, with progression to a severe condition of HELLP syndrome followed by posterior reversible encephalopathy syndrome (PRES) and hepatic infarction. We highlight the approach taken towards this patient and the case management, in which, in addition to the imaging examinations routinely available, we also used the sidestream dark field (SDF) technique to evaluate the systemic microcirculation. PMID:25485160

  11. Cerebral vasomotor reactivity in reversible cerebral vasoconstriction syndrome.

    PubMed

    Topcuoglu, Mehmet Akif; Chan, Suk-Tak; Silva, Gisele Sampaio; Smith, Eric Edward; Kwong, Kenneth K; Singhal, Aneesh Bhim

    2017-05-01

    Background Altered cerebrovascular tone is implicated in reversible cerebral vasoconstriction syndrome (RCVS). We evaluated vasomotor reactivity using bedside transcranial Doppler in RCVS patients. Methods In this retrospective case-control study, middle cerebral artery (MCA) blood flow velocities were compared at rest and in response to breath-hold in RCVS ( n = 8), Migraineurs ( n = 10), and non-headache Controls ( n = 10). Hyperventilation response was measured in RCVS. Results In RCVS, Breath Holding Index (BHI) was severely reduced in seven of eight patients and 14/16 MCAs; seven of 16 MCAs showed exhausted (BHI < 0.1) or inverted (BHI < 0) vasomotor reactivity. Mean BHI in RCVS (0.23 ± 0.5) was significantly lower than Migraine (1.52 ± 0.57) and Controls (1.51 ± 0.32), p < 0.001. Triphasic velocity responses were seen in all groups. The maximum Vmean decline during the middle negative phase was -15.5 ± 9.2% in RCVS, -15.4 ± 7% in Migraine, and -10.3 ± 5% in Controls ( p = 0.04). In the late positive phase, average Vmean increase was 6.2 ± 14% in RCVS, which was significantly lower ( p < 0.001) than Migraine (30.5 ± 11%) and Controls (30.2 ± 6%). With hyperventilation, RCVS patients showed 23% decrease in Vmean. Conclusion Cerebral arterial tone is abnormal in RCVS, with proximal vasoconstriction and abnormally reduced capacity for vasodilation. Further studies are needed to determine the utility of BHI to diagnose RCVS before angiographic reversibility is established, and to estimate prognosis.

  12. KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.

    PubMed

    Furio, Laetitia; Pampalakis, Georgios; Michael, Iacovos P; Nagy, Andras; Sotiropoulou, Georgia; Hovnanian, Alain

    2015-09-01

    Netherton Syndrome (NS) is a rare and severe autosomal recessive skin disease which can be life-threatening in infants. The disease is characterized by extensive skin desquamation, inflammation, allergic manifestations and hair shaft defects. NS is caused by loss-of-function mutations in SPINK5 encoding the LEKTI serine protease inhibitor. LEKTI deficiency results in unopposed activities of kallikrein-related peptidases (KLKs) and aberrantly increased proteolysis in the epidermis. Spink5⁻/⁻ mice recapitulate the NS phenotype, display enhanced epidermal Klk5 and Klk7 protease activities and die within a few hours after birth because of a severe skin barrier defect. However the contribution of these various proteases in the physiopathology remains to be determined. In this study, we developed a new murine model in which Klk5 and Spink5 were both knocked out to assess whether Klk5 deletion is sufficient to reverse the NS phenotype in Spink5⁻/⁻ mice. By repeated intercrossing between Klk5⁻/⁻ mice with Spink5⁻/⁻ mice, we generated Spink5⁻/⁻Klk5⁻/⁻ animals. We showed that Klk5 knock-out in Lekti-deficient newborn mice rescues neonatal lethality, reverses the severe skin barrier defect, restores epidermal structure and prevents skin inflammation. Specifically, using in situ zymography and specific protease substrates, we showed that Klk5 knockout reduced epidermal proteolytic activity, particularly its downstream targets proteases KLK7, KLK14 and ELA2. By immunostaining, western blot, histology and electron microscopy analyses, we provide evidence that desmosomes and corneodesmosomes remain intact and that epidermal differentiation is restored in Spink5⁻/⁻Klk5⁻/⁻. Quantitative RT-PCR analyses and immunostainings revealed absence of inflammation and allergy in Spink5⁻/⁻Klk5⁻/⁻ skin. Notably, Il-1β, Il17A and Tslp levels were normalized. Our results provide in vivo evidence that KLK5 knockout is sufficient to reverse NS-like symptoms

  13. Reverse Genetics System for Severe Fever with Thrombocytopenia Syndrome Virus

    PubMed Central

    Brennan, Benjamin; Li, Ping; Zhang, Shuo; Li, Aqian; Liang, Mifang; Li, Dexin

    2014-01-01

    ABSTRACT Severe fever with thrombocytopenia syndrome virus (SFTSV) is an emerging tick-borne pathogen that was first reported in China in 2009. Phylogenetic analysis of the viral genome showed that SFTS virus represents a new lineage within the Phlebovirus genus, distinct from the existing sandfly fever and Uukuniemi virus groups, in the family Bunyaviridae. SFTS disease is characterized by gastrointestinal symptoms, chills, joint pain, myalgia, thrombocytopenia, leukocytopenia, and some hemorrhagic manifestations with a case fatality rate of about 2 to 15%. Here we report the development of reverse genetics systems to study STFSV replication and pathogenesis. We developed and optimized functional T7 polymerase-based M- and S-segment minigenome assays, which revealed errors in the published terminal sequences of the S segment of the Hubei 29 strain of SFTSV. We then generated recombinant viruses from cloned cDNAs prepared to the antigenomic RNAs both of the minimally passaged virus (HB29) and of a cell culture-adapted strain designated HB29pp. The growth properties, pattern of viral protein synthesis, and subcellular localization of viral N and NSs proteins of wild-type HB29pp (wtHB29pp) and recombinant HB29pp viruses were indistinguishable. We also show that the viruses fail to shut off host cell polypeptide production. The robust reverse genetics system described will be a valuable tool for the design of therapeutics and the development of killed and attenuated vaccines against this important emerging pathogen. IMPORTANCE SFTSV and related tick-borne phleboviruses such as Heartland virus are emerging viruses shown to cause severe disease in humans in the Far East and the United States, respectively. Study of these novel pathogens would be facilitated by technology to manipulate these viruses in a laboratory setting using reverse genetics. Here, we report the generation of infectious SFTSV from cDNA clones and demonstrate that the behavior of recombinant viruses

  14. [Reversible posterior leukoencephalopathy syndrome associated with carbamazepine-induced hypertension].

    PubMed

    Furuta, Natsumi; Fujita, Yukio; Sekine, Akiko; Ikeda, Masaki; Okamoto, Koichi

    2009-04-01

    A 21-year-old man developed idiopathic trigeminal neuralgia, and was admitted to our hospital. Although neuralgia was promptly resolved after oral carbamazepine (CBZ) administration, he developed arterial hypertension (from 110/60 mmHg to 170/126 mmHg) followed by consciousness disturbance several days after the initiation of carbamazepine. MRI T2-weighted, FLAIR and ADC images demonstrated transient hyperintense lesions of the bilateral fronto-parieto-occipital subcortical white matter. These lesions showed isointensity on diffusion-weighted images. Since these alterations suggested the presence of vasogenic edema induced by hypertension, we diagnosed him as having reversible posterior leukoencephalopathy syndrome (RPLS) induced by hypertension. Persistent hypertension despite the administration of various anti-hypertension drugs finally improved after oral CBZ therapy was discontinued. Therefore, we considered that hypertension was induced by oral CBZ therapy. This is a rare case in which high blood pressure was caused by CBZ. There is no previous report of RPLS induced by CBZ administration. Further investigation to determine whether CBZ is capable of causing arterial hypertension is warranted.

  15. Neuropathology of a fatal case of posterior reversible encephalopathy syndrome.

    PubMed

    Kheir, John N; Lawlor, Michael W; Ahn, Edward S; Lehmann, Leslie; Riviello, James J; Silvera, V Michelle; McManus, Michael; Folkerth, Rebecca D

    2010-01-01

    The pathology of posterior reversible encephalopathy syndrome (PRES) is undefined, since it is rarely fatal and is biopsied in only exceptional circumstances. We describe rapidly progressive PRES following stem cell transplant for acute lymphoblastic leukemia. After development of altered mental status, this 8-year-old girl had T2 prolongation of the white matter in a posterior-dominant distribution, eventually developing cerebellar edema, hemorrhage, hydrocephalus, and herniation. Despite surgical and medical management, she died 36 hours later. At autopsy, the occipital and cerebellar white matter and focal occipital cortical gray matter showed a spectrum of microvascular changes, including dilated perivascular spaces containing proteinaceous exudates and macrophages, as well as fibrinoid necrosis and acute hemorrhage, in a distribution corresponding to the neuroimaging abnormalities and reminiscent of those seen in patients with acute hypertensive encephalopathy. Of note, similar microvascular changes were not seen in the kidney or other systemic sites. Thus, the findings indicate a brain-specific microvascular compromise as the substrate of PRES, at least in the rare instance of cases progressing to fatal outcome.

  16. Posterior reversible encephalopathy syndrome in a patient with lupus nephritis.

    PubMed

    Kadikoy, Huseyin; Haque, Waqar; Hoang, Vu; Maliakkal, Joseph; Nisbet, John; Abdellatif, Abdul

    2012-05-01

    Posterior reversible encephalopathy syndrome (PRES) is characterized by acute onset of headache, nausea, focal neurological deficits or seizures along with radiological findings of white matter defects in the parietal and occipital lobes. Causes of PRES include uremia, hypertensive encephalopathy, eclampsia and immunosuppressive medications. Usually, the treatment of choice involves correcting the underlying abnormality. We describe an unusual case of recurrent PRES caused by uremia during a lupus flare in a patient with biopsy-proven Class IV Lupus Nephritis (LN) with vasculitis. PRES in systemic lupus erythematosis (SLE) is a rare clinical phenomenon and, when reported, it is associated with hypertensive encephalopathy. Our patient did not have hypertensive crisis, but had uremic encephalopathy. The patient's PRES-related symptoms resolved after initiation of hemodialysis. The temporal correlation of the correction of the uremia and the resolution of the symptoms of PRES show the etiology to be uremic encephalopathy, making this the first reported case of uremia-induced PRES in Class IV LN with vasculitis.

  17. Reversed Robin Hood syndrome in acute ischemic stroke patients.

    PubMed

    Alexandrov, Andrei V; Sharma, Vijay K; Lao, Annabelle Y; Tsivgoulis, Georgios; Malkoff, Marc D; Alexandrov, Anne W

    2007-11-01

    Recurrent hemodynamic and neurological changes with persisting arterial occlusions may be attributable to cerebral blood flow steal from ischemic to nonaffected brain. Transcranial Doppler monitoring with voluntary breath-holding and serial NIH Stroke Scale (NIHSS) scores were obtained in patients with acute middle cerebral artery or internal carotid artery occlusions. The steal phenomenon was detected as transient, spontaneous, or vasodilatory stimuli-induced velocity reductions in affected arteries at the time of velocity increase in normal vessels. The steal magnitude (%) was calculated as [(MFVm-MFVb)/MFVb]x100, where m=minimum and b=baseline mean flow velocities (MFV) during the 15- to 30-second period of a total 30 second of breath-holding. Six patients had steal phenomenon on transcranial Doppler (53 to 73 years, NIHSS 4 to 15 points). Steal magnitude ranged from -15.0% to -43.2%. All patients also had recurrent neurological worsening (>2 points increase in NIHSS scores) at stable blood pressure. In 3 of 5 patients receiving noninvasive ventilatory correction for snoring/sleep apnea, no further velocity or NIHSS score changes were noted. Our descriptive study suggests possibility to detect and quantify the cerebral steal phenomenon in real-time. If the steal is confirmed as the cause of neurological worsening, reversed Robin Hood syndrome may identify a target group for testing blood pressure augmentation and noninvasive ventilatory correction in stroke patients.

  18. Posterior reversible encephalopathy syndrome (PRES) and hypomagnesemia: A frequent association?

    PubMed

    Chardain, A; Mesnage, V; Alamowitch, S; Bourdain, F; Crozier, S; Lenglet, T; Psimaras, D; Demeret, S; Graveleau, P; Hoang-Xuan, K; Levy, R

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a serious neurological condition encountered in various medical fields. Pathophysiological factor(s) common to PRES cases of apparently unrelated etiologies are yet to be found. Based on the hypothesis that hypomagnesemia might participate in the cascade leading to PRES, our study sought to verify whether hypomagnesemia is frequently associated with PRES regardless of etiology. From a retrospective study of a cohort of 57 patients presenting with PRES of different etiologies, presented here are the findings of 19 patients with available serum magnesium levels (SMLs) during PRES. In the acute phase of PRES, hypomagnesemia was present in all 19 patients in spite of differences in etiology (including immunosuppressive drugs, hypertensive encephalopathy, eclampsia, systemic lupus erythematosus, iatrogenic etiology and unknown). SMLs were within normal ranges prior to PRES and below normal ranges during the first 48h of PRES, with a significant decrease in SMLs during the acute phase. In this retrospective study, constant hypomagnesemia was observed during the acute phase of PRES regardless of its etiology. These results now require larger studies to assess the particular importance of acute hypomagnesemia in PRES and especially the possible need to treat PRES with magnesium sulfate.

  19. [Reversible cerebral vasoconstriction syndrome associated with stroke: three case reports].

    PubMed

    Ishi, Yukitomo; Sugiyama, Taku; Echizenya, Sumire; Yokoyama, Yuka; Asaoka, Katsuyuki; Itamoto, Koji

    2014-02-01

    Reversible cerebral vasoconstriction syndrome(RCVS)is characterized by severe headache and diffuse segmental constriction of cerebral arteries that resolves spontaneously within a few months. Although manifestations of stroke are not included in diagnostic criteria of RCVS, it is known that some cases may be associated with stroke, including intracerebral hemorrhage, subarachnoid hemorrhage, or cerebral infarction. We present three cases of RCVS associated with various types of stroke, and then review the literature. Case 1:A 49-year-old woman presented with a headache followed by left hemiparesis and dysarthria. One month before the onset, she was transfused for severe anemia caused by uterus myoma. CT images revealed intracerebral hemorrhages in the right putamen and right occipital lobe. Angiography revealed multiple segmental constrictions of the cerebral arteries. One month after the onset, these vasoconstrictions improved spontaneously. Case 2:A postpartum 38-year-old woman who had a history of migraine presented with thunderclap headache. Imaging revealed a focal subarachnoid hemorrhage in the right postcentral sulcus and segmental vasoconstriction of the right middle cerebral artery. One week after the onset, this vasoconstriction improved spontaneously. Case 3:A 32-year-old woman who had a history of migraine presented with headache followed by left homonymous hemianopsia. Imaging revealed a cerebral infarction of the right occipital lobe and multiple constrictions of the right posterior cerebral artery. These vasoconstrictions gradually improved spontaneously.

  20. Reversible dropped head syndrome after hemispheric striatal infarction.

    PubMed

    Funabe, Sayaka; Tanaka, Ryota; Hayashi, Akito; Yamashiro, Kazuo; Shimura, Hideki; Hattori, Nobutaka

    2014-04-01

    We report a rare case of transient "dropped head syndrome" (DHS) after acute ischemic stroke. A 64-year-old man noticed a sudden onset of mild weakness in his left hand and also difficulty in preventing his head from dropping onto his chest without weakness of the neck extensor muscles. Magnetic resonance images showed acute ischemic changes at the right putamen and caudate nucleus. Surface electromyography (EMG) performed 3 days after the stroke showed that both trapeziuses were hypertonic at rest, whereas the activity of the sternocleidomastoids was gradually increased on passive head lifting, indicating dystonia of the neck muscles. His dropped head fully improved by 9 days after the stroke. Re-examination by surface EMG 30 days after the stroke showed no hypertonic activity in the neck muscles. DHS is characterized by an abnormal ante-fixed posture of the neck, usually observed in patients with neurodegenerative disorders such as multiple system atrophy and Parkinson disease. This is the first case of reversible DHS after acute ischemic stroke, and the accumulation of similar cases will be important to elucidate the mechanisms underlying the development of DHS and stroke-associated movement disorders.

  1. Rare Case of Posterior Reversible Leukoencephalopathy Syndrome Secondary to Acute Chest Syndrome

    PubMed Central

    Klein, Daniel; El-Sherif, Yasir

    2016-01-01

    We present a case of 29/m with a history of sickle cell disease who presented to the emergency department with sudden onset of chest, trunk, extremity, and back pain, consistent in quality and severity with the patient's usual pain crises. Soon after admission to the medical unit for acute chest syndrome (ACS), the patient developed sudden onset of hypertension associated with left sided hemiplegia, lethargy, dysarthria, aphasia, and left sided facial droop. Neuroimaging revealed that on MRI Brain there was multifocal extensive signal abnormality and a small focal areas of hemorrhage compatible with posterior reversible leukoencephalopathy syndrome (PRES). Patient was treated with levetiracetam and phenytoin and improved soon afterwards, with resolution seen on follow-up MRI two months later. PMID:27957377

  2. Posterior Reversible Encephalopathy Syndrome in Henoch-Schonlein Purpura and Hemolytic Uremic Syndrome

    PubMed Central

    Fidan, Kibriya; Kandur, Yasar; Ucar, Murat; Gucuyener, Kivilcim; Soylemezoglu, Oguz

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological syndrome, composed of symptoms such as headache, seizures, visual disturbances, lethargy, confusion, stupor, focal neurologic findings and radiological findings of bilateral gray and white matter abnormalities suggestive of edema in the posterior regions of the cerebral hemispheres. PRES is associated with significant morbidity and mortality if it is not expeditiously recognized. Magnetic resonance image (MRI) represents the most sensitive imaging technique for recognizing PRES. PRES has been seen in various clinical settings including renal disorders such as acute glomerulonephritis, lupus nephritis, nephrotic syndrome, and drug usage such as calcineurin inhibitors. We aimed to present two study cases for such clinical setting. In this report, we present two patients with PRES in whom the primary diagnosis was hemolytic uremic syndrome (HUS) and Henoch-Schonlein purpura (HSP). Both of them were treated with anticonvulsant and proper antihypertensive drugs. A repeated MRI scan of the head, an ophthalmologic assessment, and a follow-up electroencephalogram produced normal results with no sequelae. Early recognition of PRES as a complication during different diseases and therapies in childhood may facilitate the appropriate treatment, so that intensive treatment should be performed as soon as possible to avoid neurological sequelae. PMID:27298664

  3. Posterior Reversible Encephalopathy Syndrome in Henoch-Schonlein Purpura and Hemolytic Uremic Syndrome.

    PubMed

    Fidan, Kibriya; Kandur, Yasar; Ucar, Murat; Gucuyener, Kivilcim; Soylemezoglu, Oguz

    2016-07-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological syndrome, composed of symptoms such as headache, seizures, visual disturbances, lethargy, confusion, stupor, focal neurologic findings and radiological findings of bilateral gray and white matter abnormalities suggestive of edema in the posterior regions of the cerebral hemispheres. PRES is associated with significant morbidity and mortality if it is not expeditiously recognized. Magnetic resonance image (MRI) represents the most sensitive imaging technique for recognizing PRES. PRES has been seen in various clinical settings including renal disorders such as acute glomerulonephritis, lupus nephritis, nephrotic syndrome, and drug usage such as calcineurin inhibitors. We aimed to present two study cases for such clinical setting. In this report, we present two patients with PRES in whom the primary diagnosis was hemolytic uremic syndrome (HUS) and Henoch-Schonlein purpura (HSP). Both of them were treated with anticonvulsant and proper antihypertensive drugs. A repeated MRI scan of the head, an ophthalmologic assessment, and a follow-up electroencephalogram produced normal results with no sequelae. Early recognition of PRES as a complication during different diseases and therapies in childhood may facilitate the appropriate treatment, so that intensive treatment should be performed as soon as possible to avoid neurological sequelae.

  4. Posterior Reversible Encephalopathy Syndrome Occurring After Uterine Artery Embolization for Uterine Myoma

    SciTech Connect

    Suzuki, Satoshi Tanigawa, Noboru; Kariya, Syuji; Komemushi, Atsushi; Kojima, Hiroyuki; Tokuda, Takanori; Kishimoto, Masanobu; Tomino, Atsutoshi; Fujioka, Masayuki; Kitazawa, Yasuhide; Sawada, Satoshi

    2011-02-15

    This case report describes posterior reversible encephalopathy syndrome (PRES) occurring after uterine artery embolization (UAE) for uterine myoma. This is the first report of PRES occurring after uterine vascular radiologic intervention. The mechanism by which UAE induced PRES is unclear.

  5. Reversible cerebral vasoconstriction syndrome in the context of recent cerebral venous thrombosis: Report of a case.

    PubMed

    Bourvis, Nadège; Franc, Julie; Szatmary, Zoltan; Chabriat, Hugues; Crassard, Isabelle; Ducros, Anne

    2016-01-01

    Reversible cerebral constriction syndrome and cerebral venous thrombosis are two rare conditions. Reversible cerebral constriction syndrome affects the cerebral arteries and the pathology is still largely unknown. To date, no physiological link with cerebral venous thrombosis has been reported. We report here the case of a 24-year-old woman who presented a reversible cerebral constriction syndrome in the setting of a cerebral venous thrombosis. Cerebral venous thrombosis had developed in her left lateral venous sinus, within the stent placed one year before, in order to treat an idiopathic intracranial hypertension. The co-occurrence of cerebral venous thrombosis and reversible cerebral constriction syndrome in the same patient raises the issue of a potential link between them. We discuss the potential common trigger factors in this case: recent hormonal therapy; intracranial hypotension iatrogenically induced by lumbar puncture. © International Headache Society 2015.

  6. Determinants of Recovery from Severe Posterior Reversible Encephalopathy Syndrome

    PubMed Central

    Legriel, Stephane; Schraub, Olivier; Azoulay, Elie; Hantson, Philippe; Magalhaes, Eric; Coquet, Isaline; Bretonniere, Cedric; Gilhodes, Olivier; Anguel, Nadia; Megarbane, Bruno; Benayoun, Laurent; Schnell, David; Plantefeve, Gaetan; Charpentier, Julien; Argaud, Laurent; Mourvillier, Bruno; Galbois, Arnaud; Chalumeau-Lemoine, Ludivine; Rivoal, Michel; Durand, François; Geffroy, Arnaud; Simon, Marc; Stoclin, Annabelle; Pallot, Jean-Louis; Arbelot, Charlotte; Nyunga, Martine; Lesieur, Olivier; Troché, Gilles; Bruneel, Fabrice; Cordoliani, Yves-Sébastien; Bedos, Jean-Pierre; Pico, Fernando

    2012-01-01

    Objective Few outcome data are available about posterior reversible encephalopathy syndrome (PRES). We studied 90-day functional outcomes and their determinants in patients with severe PRES. Design 70 patients with severe PRES admitted to 24 ICUs in 2001–2010 were included in a retrospective cohort study. The main outcome measure was a Glasgow Outcome Scale (GOS) of 5 (good recovery) on day 90. Main Results Consciousness impairment was the most common clinical sign, occurring in 66 (94%) patients. Clinical seizures occurred in 57 (81%) patients. Median mean arterial pressure was 122 (105–143) mmHg on scene. Cerebral imaging abnormalities were bilateral (93%) and predominated in the parietal (93%) and occipital (86%) white matter. Median number of brain areas involved was 4 (3–5). Imaging abnormalities resolved in 43 (88%) patients. Ischaemic and/or haemorrhagic complications occurred in 7 (14%) patients. The most common causes were drug toxicity (44%) and hypertensive encephalopathy (41%). On day 90, 11 (16%) patients had died, 26 (37%) had marked functional impairments (GOS, 2 to 4), and 33 (56%) had a good recovery (GOS, 5). Factors independently associated with GOS<5 were highest glycaemia on day 1 (OR, 1.22; 95%CI, 1.02–1.45, p = 0.03) and time to causative-factor control (OR, 3.3; 95%CI, 1.04–10.46, p = 0.04), whereas GOS = 5 was associated with toxaemia of pregnancy (preeclampsia/eclampsia) (OR, 0.06; 95%CI, 0.01–0.38, p = 0.003). Conclusions By day 90 after admission for severe PRES, 44% of survivors had severe functional impairments. Highest glycaemia on day 1 and time to causative-factor control were strong early predictors of outcomes, suggesting areas for improvement. PMID:23024751

  7. Development of epilepsy after posterior reversible encephalopathy syndrome.

    PubMed

    Heo, Kyoung; Cho, Kyoo Ho; Lee, Moon Kyu; Chung, Su Jin; Cho, Yang-Je; Lee, Byung In

    2016-01-01

    This study was intended to describe the risk of epilepsy subsequent to posterior reversible encephalopathy syndrome (PRES) and the clinical features of post-PRES epilepsy. We retrospectively identified all patients with PRES who were admitted to Severance Hospital and consulted with the Department of Neurology between 2001 and 2013 and the subgroup of these patients who subsequently developed epilepsy. We also describe clinical features of patients who were not treated with PRES as inpatients at our center but who presented later with post-PRES epilepsy during the study period. We studied clinical characteristics during the acute symptomatic phase of PRES and after the development of epilepsy. During the study period 102 patients were treated at our center during the acute phase of PRES. Four of these patients (3.9%) subsequently developed epilepsy. Two additional patients with a history of PRES presented to our hospital after the acute phase of their illness with post-PRES epilepsy. During the acute phase, five of six patients had acute symptomatic seizures and four had convulsive or nonconvulsive status epilepticus (SE). Acute phase MRI showed cytotoxic edema in five patients, and follow-up MRI showed focal atrophic changes including hippocampal sclerosis in four. Presumptive epileptogenic foci were located in the left-side temporal, parietal and occipital lobes, corresponding to the regions that showed cytotoxic edema or severe vasogenic edema as well as with the location or lateralization of EEG abnormalities during the acute phase. Our findings indicate a small but not insignificant risk for the development of epilepsy after PRES. The presence of cytotoxic edema and severe, acute symptomatic seizures, such as SE suggests irreversible brain damage and may predict the development of epilepsy. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  8. Management and outcomes of malignant posterior reversible encephalopathy syndrome.

    PubMed

    Akins, Paul T; Axelrod, Yekaterina; Silverthorn, James W; Guppy, Kern; Banerjee, Amit; Hawk, Mark W

    2014-10-01

    Recognition of severe forms of posterior reversible encephalopathy syndrome (PRES) has improved. Management of these patients remains challenging, particularly in patients with the combination of edema and hemorrhage. A prospective inpatient neuro-intensive care database was queried for patients with PRES. Malignant PRES was diagnosed by clinical assessments (GCS less than 8 and clinical decline despite standard medical management for elevated intracranial pressure) and radiographic criteria (edema with associated mass effect; brain hemorrhage exerting mass effect; effacement of basal cisterns, transtentorial, tonsillar, or uncal herniation). Malignant PRES was defined as: radiology studies consistent with PRES; GCS less than 8; and clinical decline despite standard elevated intracranial pressure management. Five cases were identified over a 4 year interval. The following contributing conditions were also present: chemotherapy (1), systemic lupus erythematosis (2), pregnancy (1), and methamphetamines (1). Neurocritical care interventions included: hyperosmolar therapy (5), anticonvulsants (5), management of coagulopathy (5), and ventilatory support (5). Neurosurgical interventions included: craniectomy (5), hematoma evacuation (3), and external ventricular drain (4). Brain biopsy was performed in 5 patients and was negative for vasculitis, demyelinating disease, tumor, or infection. Cyclophosphamide was administered to the two patients with SLE. With long-term follow up, all patients achieved good functional outcomes (modified Rankin score 1-2). In contrast to historical reports of high mortality rates (16-29%) for severe and hemorrhagic PRES variants, we had no fatalities and observed favorable functional outcomes with intracranial pressure monitoring and craniectomy for malignant PRES cases who fail medical ICP management. Copyright © 2014 Elsevier B.V. All rights reserved.

  9. Posterior reversible encephalopathy syndrome secondary to blood transfusion.

    PubMed

    Singh, Karanbir; Gupta, Rajesh; Kamal, Haris; Silvestri, Nicholas J; Wolfe, Gil I

    2015-03-01

    The appearance of posterior reversible encephalopathy syndrome (PRES) after blood transfusion is rare and has only been reported in three patients to our knowledge. We report a fourth patient with PRES secondary to blood transfusion. A 36-year-old woman with a history of menorrhagia presented to the emergency department with severe fatigue. She had a hemoglobin of 1.7 g/dl and received four units of red blood cells over 15 hours. On day 6 post-transfusion she returned with confusion, headache and a generalized tonic-clonic seizure. The MRI of her brain was consistent with PRES. The following day her confusion worsened, repeat MRI of the brain showed new T2-weighted lesions. Over next 10 days her mental status gradually improved close to her baseline. A repeat MRI of the brain showed resolution of the T2-weighted lesions. The clinical presentation, radiological findings and disease progression in our patient was consistent with PRES. Other than the blood transfusions, there were no apparent risk factors for PRES. The prior three patients with post-transfusion PRES have been reported in middle-aged women with uterine fibroids. It is suspected that these patients have a subacute to chronic anemic state due to ongoing menorrhagia. It is interesting to note that no cases of PRES post-transfusion have been reported in the setting of acute blood loss, such as from trauma. It is postulated that an abrupt increase in hemoglobin causes a rapid rise in blood viscosity and loss of hypoxic vasodilation. Subsequent endothelial damage and brain capillary leakage results in PRES. This constellation of changes may not occur after transfusion in patients with more acute blood loss.

  10. Hemorrhage in posterior reversible encephalopathy syndrome: imaging and clinical features.

    PubMed

    Hefzy, H M; Bartynski, W S; Boardman, J F; Lacomis, D

    2009-08-01

    Hemorrhage is known to occur in posterior reversible encephalopathy syndrome (PRES), but the characteristics have not been analyzed in detail. The purpose of this study was to evaluate the imaging and clinical features of hemorrhage in PRES. Retrospective assessment of 151 patients with PRES was performed, and 23 patients were identified who had intracranial hemorrhage at toxicity. Hemorrhage types were identified and tabulated, including minute focal hemorrhages (<5 mm), sulcal subarachnoid hemorrhage, and focal hematoma. Clinical features of hemorrhage and nonhemorrhage PRES groups were evaluated, including toxicity blood pressure, coagulation profile/platelet counts, coagulation-altering medication, and clinical conditions associated with PRES. Toxicity mean arterial pressure (MAP) groups were defined as normal (<106 mm Hg), mildly hypertensive (106-116 mm Hg), or severely hypertensive (>116 mm Hg). The overall incidence of hemorrhage was 15.2%, with borderline statistical significance noted between the observed clinical associations (P = .07). Hemorrhage was significantly more common (P = .02) after allogeneic bone marrow transplantation (allo-BMT) than after solid-organ transplantation. The 3 hemorrhage types were noted with equal frequency. A single hemorrhage type was found in 16 patients, with multiple types noted in 7. Patients undergoing therapeutic anticoagulation were statistically more likely to develop hemorrhage (P = .04). No difference in hemorrhage incidence was found among the 3 blood pressure subgroups (range, 14.9%-15.9%). Three distinct types of hemorrhage (minute hemorrhage, sulcal subarachnoid hemorrhage, hematoma) were identified in PRES with equal frequency. The greatest hemorrhage frequency was seen after allo-BMT and in patients undergoing therapeutic anticoagulation. Hemorrhage rate was independent of the toxicity blood pressure.

  11. Hemorrhagic Reversible Cerebral Vasoconstriction Syndrome: Features and Mechanisms.

    PubMed

    Topcuoglu, Mehmet A; Singhal, Aneesh B

    2016-07-01

    To compare hemorrhagic and nonhemorrhagic reversible cerebral vasoconstriction syndromes (RCVS) with a view to understand mechanisms. This single-center retrospective study included 162 patients with RCVS. Clinical, brain imaging, and angiography data were analyzed. The mean age was 44±13 years, 78% women. Hemorrhages occurred in 43% including 21 patients with intracerebral hemorrhage (ICH) and 62 with convexal subarachnoid hemorrhage (cSAH). The frequency of triggers (eg, vasoconstrictive drugs) and risk factors (eg, migraine) were not significantly different between hemorrhagic and nonhemorrhagic RCVS or between subgroups (ICH versus non-ICH, isolated cSAH versus normal scan). Hemorrhagic lesions occurred within the first week, whereas infarcts and vasogenic edema accumulated during 2 to 3 weeks (P<0.001). Although all ICHs occurred before cSAH, their time course was not significantly different (P=0.11). ICH and cSAH occurred earlier than infarcts (P≤0.001), and ICH earlier than vasogenic edema (P=0.009). Angiogram analysis showed more severe vasoconstriction in distal versus proximal segments in all lesion types (ICH, cSAH, infarction, vasogenic edema, and normal scan). The isolated infarction group had more severe proximal vasoconstriction, and those with normal imaging had significantly less vasoconstriction. Multivariable analysis failed to uncover independent predictors of hemorrhagic RCVS; however, female sex predicted ICH (P=0.048), and angiographic severity predicted infarction (P=0.043). ICH and cSAH are common complications of RCVS. Triggers and risk factors do not predict lesion subtype but may alter central vasomotor control mechanisms resulting in centripetal angiographic evolution. Early distal vasoconstriction is associated with lobar ICH and cSAH, and delayed proximal vasoconstriction with infarction. © 2016 American Heart Association, Inc.

  12. Reduced circulating endothelial progenitor cells in reversible cerebral vasoconstriction syndrome.

    PubMed

    Chen, Shih-Pin; Wang, Yen-Feng; Huang, Po-Hsun; Chi, Chin-Wen; Fuh, Jong-Ling; Wang, Shuu-Jiun

    2014-12-02

    The pathophysiology of reversible cerebral vasoconstriction syndrome (RCVS) remains elusive. Endothelial dysfunction might play a role, but direct evidence is lacking. This study aimed to explore whether patients with RCVS have a reduced level of circulating circulating endothelial progenitor cells (EPCs) to repair the dysfunctional endothelial vasomotor control. We prospectively recruited 24 patients with RCVS within one month of disease onset and 24 healthy age- and sex-matched controls. Flow cytometry was used to quantify the numbers of circulating EPCs, defined as KDR+CD133+, CD34+CD133+, and CD34+KDR+ double-positive mononuclear cells. The Lindegaard index, an index of vasoconstriction, was calculated by measuring the mean flow velocity of middle cerebral arteries and distal extracranial internal carotid arteries via color-coded sonography on the same day as blood drawing. A Lindegaard index of 2 was chosen as the cutoff value for significant vasoconstriction of middle cerebral arteries based on our previous study. Patients with RCVS had a reduced number of CD34+KDR+ cells (0.009 ± 0.006% vs. 0.014 ± 0.010%, p = 0.031) but not KDR+CD133+ cells or CD34+CD133+ EPCs, in comparison with controls. The number of CD34+KDR+ cells was inversely correlated with the Lindegaard index (rs = -0.418, p = 0.047). Of note, compared to controls, patients with a Lindegaard index > 2 (n = 13) had a reduced number of CD34+KDR+ cells (0.007 ± 0.005% vs. 0.014 ± 0.010%, p = 0.010), but those with a Lindegaard index ≤ 2 did not. Patients with RCVS had reduced circulating CD34+KDR+ EPCs, which were correlated with the severity of vasoconstriction. Endothelial dysfunction might contribute to the pathogenesis of RCVS.

  13. Reversible Cerebral Vasoconstriction Syndrome in Pediatrics: A Case Series and Review.

    PubMed

    Coffino, Samantha W; Fryer, Robert H

    2017-06-01

    Reversible cerebral vasoconstriction syndrome is a transient vasculopathy associated with severe headaches and stroke. In most cases of reversible cerebral vasoconstriction syndrome, there is a precipitating event or trigger, such as pregnancy, serotonin agonist treatment or illicit drug use. The authors present 2 pediatric cases of reversible cerebral vasoconstriction syndrome and review the previous 11 pediatric cases in the literature. In many instances, the clinical and radiographic features are similar in both pediatric and adult cases. In the pediatric group, reported potential triggers include trauma (1/13), exercise (2/13), water to the face (3/13), hypertension (3/13), and medication or substance use (4/13). One surprising difference is that 11 out of 13 pediatric patients with reversible cerebral vasoconstriction syndrome are male while most cases in adults are female. Many of the pediatric patients with reversible cerebral vasoconstriction syndrome were treated with a calcium channel blocker and the overall outcome of pediatric reversible cerebral vasoconstriction syndrome was good, with most patients experiencing a full recovery.

  14. Post-streptococcal glomerulonephritis leading to posterior reversible encephalopathy syndrome: a case report.

    PubMed

    Adikari, Madura; Priyangika, Dilani; Marasingha, Indika; Thamotheram, Sharmila; Premawansa, Gayani

    2014-09-13

    Posterior reversible encephalopathy syndrome is a clinical radiographic syndrome of heterogeneous etiologies. Developing hypertensive encephalopathy following post-streptococcal glomerulonephritis is a known but uncommon manifestation and developing posterior reversible encephalopathy syndrome in such a situation is very rare. We report a case with contrast-enhanced computed tomography and magnetic resonance imaging findings of posterior reversible encephalopathy syndrome in the background of acute post-streptococcal glomerulonephritis. A thirteen-year-old Sri Lankan boy presented with a focal fit by way of secondary generalization with duration of 10 minutes, and developed 2 similar fits subsequently following admission. He later developed severe hypertension with evidence of glomerulonephritis, which was diagnosed as acute post-streptococcal glomerulonephritis. A contrast-enhanced computed tomography imaging of brain done on day-3 revealed non-enhancing low-attenuating areas in fronto-parietal regions. A T2 weighted film of magnetic resonance imaging was done on day-10 of the admission and found to have linier sub-cortical hyper intensities in both parietal regions which were compatible with the radiological diagnosis of posterior reversible encephalopathy syndrome. Post-streptococcal glomerulonephritis is an important cause of acute nephritic syndrome especially in children. This case report illustrates a rare association of posterior reversible encephalopathy syndrome in a patient with post-streptococcal glomerulonephritis.

  15. Normalization of reverse redistribution of thallium-201 with procainamide pretreatment in Wolff-Parkinson-White syndrome

    SciTech Connect

    Nii, T.; Nakashima, Y.; Nomoto, J.; Hiroki, T.; Ohshima, F.; Arakawa, K. )

    1991-03-01

    Stress thallium-201 myocardial perfusion imaging was performed in a patient with Wolff-Parkinson-White syndrome. Reverse redistribution phenomenon was observed in the absence of coronary artery disease. This seems to be the first report of normalization of this phenomenon in association with reversion of accessory pathway to normal atrioventricular conduction after pretreatment with procainamide.

  16. Incidence of posterior reversible encephalopathy syndrome in eclamptic and patients with preeclampsia with neurologic symptoms.

    PubMed

    Mayama, Michinori; Uno, Kaname; Tano, Sho; Yoshihara, Masato; Ukai, Mayu; Kishigami, Yasuyuki; Ito, Yasuhiro; Oguchi, Hidenori

    2016-08-01

    Posterior reversible encephalopathy syndrome is observed frequently in patients with eclampsia; however, it has also been reported in some patients with preeclampsia. The aim of this study was to determine the incidence of posterior reversible encephalopathy syndrome in patients with preeclampsia and eclampsia and to assess whether these 2 patient groups share similar pathophysiologic backgrounds by comparing clinical and radiologic characteristics. This was a retrospective cohort study of 4849 pregnant patients. A total of 49 patients with eclampsia and preeclampsia and with neurologic symptoms underwent magnetic resonance imaging and magnetic resonance angiography; 10 patients were excluded from further analysis because of a history of epilepsy or dissociative disorder. The age, parity, blood pressure, and routine laboratory data at the onset of symptoms were also recorded. Among 39 patients with neurologic symptoms, 12 of 13 patients with eclampsia (92.3%) and 5 of 26 patients with preeclampsia (19.2%) experienced the development of posterior reversible encephalopathy syndrome. Whereas age and blood pressure at onset were not significantly different between patients with and without encephalopathy, hematocrit, serum creatinine, aspartate transaminase, alanine transaminase, and lactate dehydrogenase values were significantly higher in patients with posterior reversible encephalopathy syndrome than in those without magnetic resonance imaging abnormalities. In contrast, patients with eclampsia with posterior reversible encephalopathy syndrome did not show any significant differences in clinical and laboratory data compared with patients with preeclampsia with posterior reversible encephalopathy syndrome. In addition to the parietooccipital regions, atypical regions (such as the frontal and temporal lobes), and basal ganglia were also involved in patients with eclampsia and patients with preeclampsia with posterior reversible encephalopathy syndrome. Finally

  17. Reduced circulating endothelial progenitor cells in reversible cerebral vasoconstriction syndrome

    PubMed Central

    2014-01-01

    Background The pathophysiology of reversible cerebral vasoconstriction syndrome (RCVS) remains elusive. Endothelial dysfunction might play a role, but direct evidence is lacking. This study aimed to explore whether patients with RCVS have a reduced level of circulating circulating endothelial progenitor cells (EPCs) to repair the dysfunctional endothelial vasomotor control. Methods We prospectively recruited 24 patients with RCVS within one month of disease onset and 24 healthy age- and sex-matched controls. Flow cytometry was used to quantify the numbers of circulating EPCs, defined as KDR+CD133+, CD34+CD133+, and CD34+KDR+ double-positive mononuclear cells. The Lindegaard index, an index of vasoconstriction, was calculated by measuring the mean flow velocity of middle cerebral arteries and distal extracranial internal carotid arteries via color-coded sonography on the same day as blood drawing. A Lindegaard index of 2 was chosen as the cutoff value for significant vasoconstriction of middle cerebral arteries based on our previous study. Results Patients with RCVS had a reduced number of CD34+KDR+ cells (0.009 ± 0.006% vs. 0.014 ± 0.010%, p = 0.031) but not KDR+CD133+ cells or CD34+CD133+ EPCs, in comparison with controls. The number of CD34+KDR+ cells was inversely correlated with the Lindegaard index (rs = -0.418, p = 0.047). Of note, compared to controls, patients with a Lindegaard index > 2 (n = 13) had a reduced number of CD34+KDR+ cells (0.007 ± 0.005% vs. 0.014 ± 0.010%, p = 0.010), but those with a Lindegaard index ≤ 2 did not. Conclusions Patients with RCVS had reduced circulating CD34+KDR+ EPCs, which were correlated with the severity of vasoconstriction. Endothelial dysfunction might contribute to the pathogenesis of RCVS. PMID:25466718

  18. Posterior Reversible Encephalopathy Syndrome in a Postpartum Preeclamptic Woman without Seizure

    PubMed Central

    Ural, Ülkü Mete; Balik, Gülsah; Şentürk, Şenol; Üstüner, Işık; Çobanoğlu, Uğur; Şahin, Figen Kır

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological entity presenting with headache, confusion, visual disturbances or blindness, and seizures. Parieto-occipital white matter changes due to vasogenic oedema can be observed on imaging modalities. It rarely occurs without seizures and after delivery. We report a 33-year-old multigravida with a history of preeclampsia in term pregnancy complicated by PRES without seizures at the postpartum period. Clinical improvement with complete resolution without any complications was observed on the 6th day after delivery. Posterior reversible encephalopathy syndrome is reversible when early diagnosis is established and appropriate treatment is started without delay. PMID:24592342

  19. Posterior Reversible Encephalopathy Syndrome in a Bone Marrow Transplant Patient: A Complication of Immunosuppressive Drugs?

    PubMed

    Hossain, Mohammad A; Jehangir, Waqas; Nai, Qiang; Jessani, Naureen; Khan, Rafay; Yousif, Abdalla; Sen, Shuvendu

    2015-08-01

    Posterior reversible encephalopathy is a complex but well-recognized clinical and radiological entity associated with a variety of benign and malignant conditions including hypertensive encephalopathy, eclampsia, renal failure and immunosuppressive drugs. The pathogenesis is incompletely understood, although it seems to be related to the breakthrough of auto-regulation and endothelial dysfunction. The clinical syndromes typically involve headache, altered mental status, seizures, visual disturbance and other focal neurological signs and radiographically reversible vasogenic subcortical edema without infarction. Here, we report a case of posterior reversible encephalopathy syndrome in a patient with chronic myeloid leukemia who received allogenic bone marrow transplantation (allo-BMT) and immunosuppressive drugs.

  20. [Reversible cerebral vasoconstriction syndrome: an important cause of stroke in the puerperium].

    PubMed

    Rodrigues, Tiago; Loureiro, Rui; Samões, Raquel; Alves, Viriato; Ramos, Cristina; Correia, Carlos

    2014-01-01

    Reversible cerebral vasoconstriction syndrome is a rare cerebrovascular disorder characterized by cerebral arterial segmental vasoconstriction, usually spontaneously reversible. This disease can occur in the postpartum period, manifesting itself through acute neurologic symptoms, and the imaging studies play a fundamental role in its diagnosis. Although classically considered a benign and self-limiting disease, it may present less favorable courses with significant associated morbidity and mortality. We describe a case of reversible cerebral vasoconstriction syndrome in the puerperium, with progressive cerebral vasospasm causing ischemic and hemorrhagic strokes. We intend to make an alert to the potential complications of this entity that demand intense clinical and imaging surveillance.

  1. Posterior Reversible Encephalopathy Syndrome in a Postpartum Preeclamptic Woman without Seizure.

    PubMed

    Ural, Ulkü Mete; Balik, Gülsah; Sentürk, Senol; Ustüner, Işık; Cobanoğlu, Uğur; Sahin, Figen Kır

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological entity presenting with headache, confusion, visual disturbances or blindness, and seizures. Parieto-occipital white matter changes due to vasogenic oedema can be observed on imaging modalities. It rarely occurs without seizures and after delivery. We report a 33-year-old multigravida with a history of preeclampsia in term pregnancy complicated by PRES without seizures at the postpartum period. Clinical improvement with complete resolution without any complications was observed on the 6th day after delivery. Posterior reversible encephalopathy syndrome is reversible when early diagnosis is established and appropriate treatment is started without delay.

  2. Reversible vasoconstriction syndrome involving the basilar artery in an adolescent: imaging and clinical features.

    PubMed

    Guerriero, Réjean M; Rivkin, Michael J

    2015-06-01

    Reversible cerebral vasoconstriction syndrome is characterized by recurrent episodes of "thunderclap headache" and by transient, multifocal vasoconstriction of cerebral vasculature. Here we present an adolescent boy whose clinical features fit the diagnostic criteria and whose neurovascular imaging revealed reversible vasoconstriction of the basilar artery alone. A previously healthy 14-year-old boy presented with repeated severe sudden thunderclap headaches following exercise. These symptoms were accompanied by isolated basilar artery stenosis. Reversible cerebral vasoconstriction syndrome is a condition with several clinical triggers. Its pathophysiology is poorly understood. This patient adds to a broadening spectrum of clinical features of this disorder. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Khat - a new precipitating factor for reversible cerebral vasoconstriction syndrome: a case report.

    PubMed

    Baharith, Harith; Zarrin, Amy

    2016-12-15

    Postpartum reversible cerebral vasoconstriction syndrome is one of the rare reversible cerebral vasoconstriction syndromes. The clinical presentation is usually characterized by recurrent headache, focal neurological deficit, and reversible cerebral vasoconstriction seen on cerebral angiography. We report a case of a 35-year-old Yemeni woman who presented with headache and focal neurological deficits that occurred 10 days after delivery, with segmental narrowing of cerebral arteries on angiography. She had significant clinical and radiological improvement on follow-up. The presentation of our patient's reversible cerebral vasoconstriction syndrome is unusual as she has two possible precipitating factors. In addition to being in the postpartum state, she also has a long history of chewing khat, a vasoactive substance commonly used by immigrants from Yemen. We hope that this case report will increase awareness among physicians about the use of this plant by immigrants from the horn of Africa and Yemen.

  4. Posterior reversible encephalopathy syndrome in children: its high prevalence and more extensive imaging findings.

    PubMed

    Ishikura, Kenji; Ikeda, Masahiro; Hamasaki, Yuko; Hataya, Hiroshi; Shishido, Seiichirou; Asanuma, Hiroshi; Nishimura, Gen; Hiramoto, Ryugo; Honda, Masataka

    2006-08-01

    Posterior reversible encephalopathy syndrome is a distinctive clinicoradiological entity observed in a variety of clinical settings, including pediatric patients. A greater prevalence of this syndrome has been suggested in kidney transplant recipients and patients with kidney disease. Although usually considered benign and reversible, characteristics of this syndrome in pediatric patients remain obscure. The objective of the present study involved disclosing details of imaging findings, as well as the clinical course and prevalence of the syndrome in this field. We investigated kidney transplant recipients and pediatric patients with kidney disease in our institution from 1990 to 2004. For these patients, clinical course, imaging findings, blood pressure, concurrent medical illnesses, and administrative condition of calcineurin inhibitors were analyzed. Twenty cases of posterior reversible encephalopathy syndrome were investigated in patients ranging in age from 1.9 to 18.3 years. In most patients, radiological abnormalities extended to the gray matter (17 of 20 patients), frontal and temporal lobes, and even the cerebellum (16 patients). Of 177 kidney transplant recipients (cyclosporine, 127 patients; tacrolimus, 50 patients), 6 patients administered cyclosporine (4.7%) and 4 patients administered tacrolimus (8.0%) developed the syndrome after transplantation. Posterior reversible encephalopathy syndrome should be suspected in pediatric kidney transplant recipients and patients with kidney disease if they have a sudden episode of neurological symptoms, even if imaging findings are not restricted to the subcortical white matter of the occipital region.

  5. Neurosteroids Reverse Tonic Inhibition Deficits in Fragile X Syndrome

    DTIC Science & Technology

    2016-08-01

    Appendices……………………………………………………………11 2 1. Introduction Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. In addition...pathophysiology of ASDs, we measured S408/9 phosphorylation in Fmr1 KO mice, a model of fragile X syndrome, the most common monogenetic cause of ASDs...Behavior. ASDs have a common core of behavioral deficits, including reduced social interaction and increased repetitive behavior. Therefore, we assessed if

  6. Reversible cerebral vasoconstriction syndrome: a rare entity in children presenting with thunderclap headache.

    PubMed

    Ghosh, Partha S; Rothner, A David; Zahka, Kenneth G; Friedman, Neil R

    2011-12-01

    Reversible cerebral vasoconstriction syndrome is characterized by a reversible segmental and multifocal vasoconstriction of cerebral arteries, and severe headaches with or without focal neurologic deficits or seizures. A 15-year-old boy presented with thunderclap headache. He had severe hypertension, although his neurologic examination was normal. Initial workup for thunderclap headache to exclude subarachnoid or intracranial hemorrhage, meningitis, pituitary apoplexy, or venous sinus thrombosis was negative. Brain magnetic resonance angiography and cerebral angiography demonstrated bilateral anterior and posterior circulation diffuse, multifocal, vascular irregularities (beading and stenosis) suggestive of underlying vasculopathy or vasculitis. He was started on verapamil. There was complete reversal of the vascular abnormalities in 6 weeks evident by magnetic resonance angiography, with resolution of headache and normalization of blood pressure. Reversible cerebral vasoconstriction syndrome has been rarely reported in children. This case report highlights the diagnostic dilemma and management of the rare childhood presentation of this condition.

  7. Progressive manifestations of reversible cerebral vasoconstriction syndrome presenting with subarachnoid hemorrhage, intracerebral hemorrhage, and cerebral infarction.

    PubMed

    Choi, Kyu-Sun; Yi, Hyeong-Joong

    2014-11-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by sudden-onset headache with focal neurologic deficit and prolonged but reversible multifocal narrowing of the distal cerebral arteries. Stroke, either hemorrhagic or ischemic, is a relatively frequent presentation in RCVS, but progressive manifestations of subarachnoid hemorrhage, intracerebral hemorrhage, cerebral infarction in a patient is seldom described. We report a rare case of a 56-year-old woman with reversible cerebral vasoconstriction syndrome consecutively presenting as cortical subarachnoid hemorrhage, intracerebral hemorrhage, and cerebral infarction. When she complained of severe headache with subtle cortical subarachnoid hemorrhage, her angiography was non-specific. But, computed tomographic angiography showed typical angiographic features of this syndrome after four days. Day 12, she suffered mental deterioration and hemiplegia due to contralateral intracerebral hematoma, and she was surgically treated. For recurrent attacks of headache, medical management with calcium channel blockers has been instituted. Normalized angiographic features were documented after 8 weeks. Reversible cerebral vasoconstriction syndrome should be considered as differential diagnosis of non-aneurysmal subarachnoid hemorrhage, and repeated angiography is recommended for the diagnosis of this under-recognized syndrome.

  8. Acute headache at emergency department: reversible cerebral vasoconstriction syndrome complicated by subarachnoid haemorrhage and cerebral infarction.

    PubMed

    Yger, M; Zavanone, C; Abdennour, L; Koubaa, W; Clarençon, F; Dupont, S; Samson, Y

    2015-01-01

    Introduction. Reversible cerebral vasoconstriction syndrome is becoming widely accepted as a rare cause of both ischemic and haemorrhagic stroke and should be evocated in case of thunderclap headaches associated with stroke. We present the case of a patient with ischemic stroke associated with cortical subarachnoid haemorrhage (cSAH) and reversible diffuse arteries narrowing, leading to the diagnosis of reversible vasoconstriction syndrome. Case Report. A 48-year-old woman came to the emergency department because of an unusual thunderclap headache. The computed tomography of the brain completed by CT-angiography was unremarkable. Eleven days later, she was readmitted because of a left hemianopsia. One day after her admission, she developed a sudden left hemiparesis. The brain MRI showed ischemic lesions in the right frontal and occipital lobe and diffuse cSAH. The angiography showed vasoconstriction of the right anterior cerebral artery and stenosis of both middle cerebral arteries. Nimodipine treatment was initiated and vasoconstriction completely regressed on day 16 after the first headache. Conclusion. Our case shows a severe reversible cerebral vasoconstriction syndrome where both haemorrhagic and ischemic complications were present at the same time. The history we reported shows that reversible cerebral vasoconstriction syndrome is still underrecognized, in particular in general emergency departments.

  9. [Posterior reversible encephalopathy syndrome: description of a case in the setting of severe infection].

    PubMed

    Zeppa, Pio; Fonio, Paolo; Giganti, Melchiore; Cotroneo, Antonio Raffaele; Genovese, Eugenio Annibale; Stabile Ianora, Antonio Amato

    2012-11-01

    Posterior reversible encephalopathy syndrome (PRES) is a well recognized neurotoxic state coupled with a unique neuroradiological appearance. This syndrome is associated with a broad spectrum of complex conditions (preeclampsia/eclampsia, bone marrow/organ transplantation, chemotherapy, autoimmune disease). We report the case of a female patient who developed PRES in the setting of severe infection, and we discuss the possible mechanisms underlying the development of cerebral edema by describing the inherent neuroradiological features.

  10. Dialysis disequilibrium leading to posterior reversible encephalopathy syndrome in chronic renal failure.

    PubMed

    Sengupta, Pratim; Biswas, Sumanta

    2016-11-01

    Dialysis disequilibrium syndrome is a neurological adverse effect of acute hemodialysis in advanced uremic patients. Dialysis disequilibrium has a wide spectrum of clinical manifestations starting from subtle uneasiness, confusion, to florid and complex life threatening neurological deficit. In this case study, we present a patient who developed sudden cortical blindness following hemodialysis due to posterior reversible encephalopathy, which is a rare presentation of dialysis disequilibrium syndrome.

  11. Primary and Reversible Pisa Syndrome in Juvenile Normal Pressure Hydrocephalus

    PubMed Central

    Leon-Sarmiento, Fidias E.; Pradilla, Gustavo; del Rosario Zambrano, Maria

    2012-01-01

    Objective To report a case of Pisa syndrome in a patient with idiopathic normal pressure hydrocephalus, who had never been exposed to psychotropic medications. Methods A 26 years-old, Colombian, male patient, was referred because he had cognitive abnormalities, gait disturbances and urinary incontinence. This patient also displayed pleurothotonos. Neurofunctional evaluation of sensory and motor integration at peripheral and central nervous system levels were done. Results Pisa syndrome disappeared after spinal tap drainage with further gait, balance and behavioral improvement. A brainstem-thalamocortical deregulation of the central sensory and motor programming, due to the chaotic enlargement of brain ventricles was thought to be the pathophysiological mechanism underlying this case. Conclusion NPH must not be longer considered as an exclusive geriatric disorder. Further, uncommon movement disorders may appear with this disorder, which should be carefully approached to avoid iatrogenic and deleterious pharmacological interventions. PMID:23794788

  12. Posterior reversible encephalopathy syndrome in alcoholic hepatitis: Hepatic encephalopathy a common theme

    PubMed Central

    John, Elizabeth S; Sedhom, Ramy; Dalal, Ishita; Sharma, Ranita

    2017-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a neuro-radiologic diagnosis that has become more widely recognized and reported over the past few decades. As such, there are a number of known risk factors that contribute to the development of this syndrome, including volatile blood pressures, renal failure, cytotoxic drugs, autoimmune disorders, pre-eclampsia, and eclampsia. This report documents the first reported case of PRES in a patient with severe alcoholic hepatitis with hepatic encephalopathy and delves into a molecular pathophysiology of the syndrome. PMID:28127211

  13. Posterior reversible encephalopathy syndrome in alcoholic hepatitis: Hepatic encephalopathy a common theme.

    PubMed

    John, Elizabeth S; Sedhom, Ramy; Dalal, Ishita; Sharma, Ranita

    2017-01-14

    Posterior reversible encephalopathy syndrome (PRES) is a neuro-radiologic diagnosis that has become more widely recognized and reported over the past few decades. As such, there are a number of known risk factors that contribute to the development of this syndrome, including volatile blood pressures, renal failure, cytotoxic drugs, autoimmune disorders, pre-eclampsia, and eclampsia. This report documents the first reported case of PRES in a patient with severe alcoholic hepatitis with hepatic encephalopathy and delves into a molecular pathophysiology of the syndrome.

  14. Right hemispheric reversible cerebral vasoconstriction syndrome in a patient with left hemispheric partial seizures

    PubMed Central

    Perez, Gina S.; McCaslin, Justin

    2017-01-01

    We report a right-handed 19-year-old girl who developed reversible cerebral vasoconstriction syndrome (RCVS) lateralized to the right hemisphere with simultaneous new-onset left hemispheric seizures. RCVS, typically more diffuse, was lateralized to one of the cerebral hemispheres. PMID:28405089

  15. Posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI): A case report.

    PubMed

    Khokhar, Harsh Vardhan; Choudhary, Pradeep; Saxena, Sangeeta; Arif, Mohamed

    2016-01-01

    Posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI) is a recently described entity with a handful of cases reported in literature. We describe a case of PRES in setting of Henoch-Schönlein purpura (HSP) with involvement of brain stem and spinal cord.

  16. Treatment of vocal tics in children with Tourette syndrome: investigating the efficacy of habit reversal.

    PubMed Central

    Woods, Douglas W; Twohig, Michael P; Flessner, Christopher A; Roloff, Timothy J

    2003-01-01

    Habit reversal was used to treat vocal tics in 5 children with Tourette syndrome. Vocal tics were reduced in 4 of the 5 children, the untreated motor tics did not increase, and treatment was acceptable to the children's parents. PMID:12723873

  17. Stimulus-Reward Association and Reversal Learning in Individuals with Asperger Syndrome

    ERIC Educational Resources Information Center

    Zalla, Tiziana; Sav, Anca-Maria; Leboyer, Marion

    2009-01-01

    In the present study, performance of a group of adults with Asperger Syndrome (AS) on two series of object reversal and extinction was compared with that of a group of adults with typical development. Participants were requested to learn a stimulus-reward association rule and monitor changes in reward value of stimuli in order to gain as many…

  18. Reversible Pisa syndrome associated to subdural haematoma: case-report

    PubMed Central

    2014-01-01

    Background Pisa Syndrome or Pleurothotonus is a relatively rare truncal dystonia, characterized by tonic flexion of the trunk and head to one side with slight rotation of the body. Since frequently associated to specific drugs such as antipsychotics and cholinesterase inhibitors or to Parkinson Disease, a pathophysiological role of cholinergic-dopaminergic imbalance has been suggested. We report here the first case of Pisa Syndrome due to an extracerebral pathology as subdural haematoma. Case presentation A hypertensive patient was admitted to Our Department for subacute onset of tonic flexion and slight rotation of the trunk associated to progressive motor deficit in left upper limb after a mild head trauma without loss of consciousness occurred around three month before. No previous or current pharmacological interventions with antidepressant, neuroleptic or anticholinergic drugs were anamnestically retrieved. Familiar and personal history was negative for neurological disorders other than acute cerebrovascular diseases. Acutely performed cerebral MRI with DWI showed a voluminous right subdural haematoma with mild shift of median line. After surgical evacuation, both motor deficit and truncal dystonia were dramatically resolved. At one-year follow up, the patient did not develop any extrapyramidal and cognitive signs or symptoms. Conclusions According to many Authors, the occurrence of truncal dystonia during several pharmacologic treatments and neurodegenerative disorders (such as Alzheimer disease and parkinsonian syndromes) supported the hypothesis that a complex dysregulation of multiple neurotransmitter systems are involved. We suggest a possible role of basal ganglia compression in pathogenesis of truncal dystonia by means of thalamo-cortical trait functional disruption and loss of proprioceptive integration. A further contribution of the subcortical structure displacement that alters motor cortex connectivity to basal ganglia may be postulated. PMID

  19. Acute Reversible Charles Bonnet Syndrome Following Eye Patch Placement.

    PubMed

    Nan, Lian; Yanbin, Hou; Jingping, Zhao

    2013-01-01

    Charles Bonnet syndrome (CBS) is characterised by recurrent vivid visual hallucinations in the presence of normal cognition. We present a case of CBS secondary to eye patching following Pars Plana Vitrectomy with an unusually acute onset in a 48-year-old woman. She presented with formed visual hallucinations that started less than 30 min after patching of her left eye. The patch was removed after 2 d, and these hallucinations persisted 2 d following eye patch removal. It is important that the ophthalmic surgeon be aware of the potential for development of CBS and offer appropriate referral and reassurance should it occur.

  20. Reversible Foix-Chavany-Marie Syndrome in a patient treated for hydrocephalus.

    PubMed

    Kaloostian, P; Chen, H; Harrington, H

    2012-10-01

    The authors report the first known case of Foix-Chavany-Marie Syndrome in a patient with hydrocephalus that reversed with ventriculoperitoneal shunting. A 34-year-old x-ray technician with a history of pilocytic astrocytoma resection and radiotherapy and ventriculoperitoneal shunt placement as a child presented with altered mental status and nausea. She was found to have acute hydrocephalus. Post-operatively she did well and was discharged home. The next day she became acutely altered with anarthria, difficulty speaking, and stiff facial muscles. After multiple revisions, she slowly recovered to her pre-op baseline over the course of next 2 months. This is the first known case of acute hydrocephalus causing Foix-Chavany-Marie Syndrome. Additionally, we show that this unique syndrome is slowly reversible after treatment of hydrocephalus.

  1. Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome.

    PubMed

    Shiohama, Tadashi; Fujii, Katsunori; Takahashi, Satoru; Nakamura, Fumito; Kohno, Yoichi

    2013-12-01

    Glucose transporter type 1 deficiency syndrome is caused by brain energy failure resulting from a disturbance in glucose transport. We describe a 4-year-old boy with classical type glucose transporter type 1 deficiency syndrome with a heterozygous splice acceptor site mutation (c.517-2A>G) in the SLCA2A1 gene. We initiated a ketogenic diet at 4 months of age. However, even though his condition was good during ketogenic diet therapy, multiple cerebral white matter and right cerebellum lesions appeared at 9 months of age. The lesions in the cerebral white matter subsequently disappeared, indicating that white matter lesions during diet therapy may be reversible and independent of the ketogenic diet. This is the first report of reversible white matter lesions during ketogenic diet therapy in glucose transporter type 1 deficiency syndrome. Copyright © 2013 Elsevier Inc. All rights reserved.

  2. [A paraneoplastic Sharp syndrome reversible after resection of a benign schwannoma: a paraneoplastic syndrome?].

    PubMed

    Slimani, S; Sahraoui, M; Bennadji, A; Ladjouze-Rezig, A

    2014-08-01

    Paraneoplastic syndromes commonly occur in malignancies and often precede the first symptoms of the tumor. By definition, paraneoplastic syndromes are only associated with malignancies although some exceptions have been reported, occurring with benign tumors. We report a patient presenting with a clinical and serological Sharp syndrome, followed a few months later by a cervical schwannoma. Curative surgical resection of the mass resulted in a clinical and serological healing from the Sharp syndrome. To our knowledge, this is the first report of a benign schwannoma complicated by a possible paraneoplastic Sharp syndrome.

  3. Centripetal Propagation of Vasoconstriction at the Time of Headache Resolution in Patients with Reversible Cerebral Vasoconstriction Syndrome.

    PubMed

    Shimoda, M; Oda, S; Hirayama, A; Imai, M; Komatsu, F; Hoshikawa, K; Shigematsu, H; Nishiyama, J; Osada, T

    2016-09-01

    Reversible cerebral vasoconstriction syndrome is characterized by thunderclap headache and diffuse segmental vasoconstriction that resolves spontaneously within 3 months. Previous reports have proposed that vasoconstriction first involves small distal arteries and then progresses toward major vessels at the time of thunderclap headache remission. The purpose of this study was to confirm centripetal propagation of vasoconstriction on MRA at the time of thunderclap headache remission compared with MRA at the time of reversible cerebral vasoconstriction syndrome onset. Of the 39 patients diagnosed with reversible cerebral vasoconstriction syndrome at our hospital during the study period, participants comprised the 16 patients who underwent MR imaging, including MRA, within 72 hours of reversible cerebral vasoconstriction syndrome onset (initial MRA) and within 48 hours of thunderclap headache remission. In 14 of the 16 patients (87.5%), centripetal propagation of vasoconstriction occurred from the initial MRA to remission of thunderclap headache, with typical segmental vasoconstriction of major vessels. These mainly involved the M1 portion of the MCA (10 cases), P1 portion of the posterior cerebral artery (10 cases), and A1 portion of the anterior cerebral artery (5 cases). This study found evidence of centripetal propagation of vasoconstriction on MRA obtained at the time of thunderclap headache remission, compared with MRA obtained at the time of reversible cerebral vasoconstriction syndrome onset. If clinicians remain unsure of the diagnosis during early-stage reversible cerebral vasoconstriction syndrome, this time point represents the best opportunity to diagnose reversible cerebral vasoconstriction syndrome with confidence. © 2016 by American Journal of Neuroradiology.

  4. [Metabolic syndrome reversion by polyunsaturated fatty acids ingestion].

    PubMed

    Campos Mondragón, Martha Gabriela; Oliart Ros, Rosa María; Martínez Martinez, Angélica; Méndez Machado, Gustavo Francisco; Angulo Guerrero, Jesús Ofelia

    2013-12-21

    Metabolic syndrome (MS) frequency is growing and diet has an important influence on its evolution. Our objective was to study the effect of 3 sources of polyunsaturated fatty acids on MS parameters in humans. The MS was diagnosed according to the International Diabetes Federation. Three groups of individuals (n=15/group) were quasi-randomly assigned to one of the following treatments during 6 weeks: a) 1.8 g/d n-3 (1.08g eicosapentoaenoic acid+0.72 g docosahexaenoic acid); b) 2.0 g/d conjugated linoleic acid (CLA, 50:50, cis9:trans11, trans10:cis12), and c) 40 g/d walnut. The clinical and biochemical parameters were evaluated at the beginning and the end of the essay. In the group with n-3 the triglycerides level decreased from 183.9 ± 35.2mg/dl to 149.6 ± 29.0mg/dl (P=.007). In the group with walnut the HDL level rose from 41.7 ± 5.2mg/dl to 47.8 ± 5.4 mg/dl (P=.004) and the Castelli index (total cholesterol/HDL) decreased from 4.86 ± 0.97 to 3.82 ± 0.81 (P=.004). There were not significant changes in the CLA group. At the end of the essay, 46.7% of walnut group patients, 46.7% of n-3 group and 20% of CLA group, had no MS. The groups that consumed polyunsaturated fatty acids n-3 and those in walnut in moderate daily doses during 6 weeks had an improvement of the dyslipidemia component of MS, hypertriglyceridemia and low HDL level. Copyright © 2011 Elsevier España, S.L. All rights reserved.

  5. Reversible cerebral vasoconstriction syndrome and bilateral vertebral artery dissection presenting in a patient after cesarean section

    PubMed Central

    Mitchell, Lex A; Santarelli, Justin G; Singh, Inder Paul; Do, Huy M

    2013-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by sudden-onset thunderclap headache and focal neurologic deficits. Once thought to be a rare syndrome, more advanced non-invasive imaging has led to an increase in RCVS diagnosis. Unilateral vertebral artery dissection has been described in fewer than 40% of cases of RCVS. Bilateral vertebral artery dissection has rarely been reported. We describe the case of a patient with RCVS and bilateral vertebral artery dissection presenting with an intramedullary infarct treated successfully with medical management and careful close follow-up. This rare coexistence should be recognized as the treatment differs. PMID:23354867

  6. Reversible cerebral vasoconstriction syndrome and bilateral vertebral artery dissection presenting in a patient after cesarean section.

    PubMed

    Mitchell, Lex A; Santarelli, Justin G; Singh, Inder Paul; Do, Huy M

    2013-01-24

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by sudden-onset thunderclap headache and focal neurologic deficits. Once thought to be a rare syndrome, more advanced non-invasive imaging has led to an increase in RCVS diagnosis. Unilateral vertebral artery dissection has been described in fewer than 40% of cases of RCVS. Bilateral vertebral artery dissection has rarely been reported. We describe the case of a patient with RCVS and bilateral vertebral artery dissection presenting with an intramedullary infarct treated successfully with medical management and careful close follow-up. This rare coexistence should be recognized as the treatment differs.

  7. PRES and Epilepsy: A Potential Long-Term Consequence of a "Reversible" Syndrome.

    PubMed

    Fitzgerald, Ryan T; Santoro, Jarod; Hinduja, Archana; Samant, Rohan S; Kumar, Manoj; Angtuaco, Edgardo J

    2017-03-01

    Epilepsy is very rarely attributed to posterior reversible encephalopathy syndrome (PRES). We report the case of a previously healthy 21-year-old who developed epilepsy with mesial temporal sclerosis following an episode of PRES related to a complicated Cesarean delivery. Neuroimaging at the time of PRES and 3 months after revealed the development of unilateral hippocampal volume loss following resolution of acute PRES-related brain edema. We discuss the incidence and importance of "non-reversible" sequelae of PRES and their implications for patient care.

  8. [The course of early neurological rehabilitation in a patient with severe posterior reversible encephalopathy syndrome].

    PubMed

    Gdynia, H J; Ampatzis, G; Diaconescu, A; Nowak, D A; Dabitz, R; Pfefferkorn, T

    2014-12-01

    Posterior reversible encephalopathy syndrome (PRES) is widely held to be a benign and potentially reversible disease. However, severe cases have been described in the literature. Data on the long-term outcome of these severe cases are scarce. Furthermore, there are no data focusing on potential benefits of neurological early rehabilitation in these patients. Here we present the clinical picture, neuroimaging features, rehabilitative course and long-term outcome of a patient with severe PRES who underwent early neurological rehabilitation. © Georg Thieme Verlag KG Stuttgart · New York.

  9. Reversal of neurological defects in a mouse model of Rett syndrome.

    PubMed

    Guy, Jacky; Gan, Jian; Selfridge, Jim; Cobb, Stuart; Bird, Adrian

    2007-02-23

    Rett syndrome is an autism spectrum disorder caused by mosaic expression of mutant copies of the X-linked MECP2 gene in neurons. However, neurons do not die, which suggests that this is not a neurodegenerative disorder. An important question for future therapeutic approaches to this and related disorders concerns phenotypic reversibility. Can viable but defective neurons be repaired, or is the damage done during development without normal MeCP2 irrevocable? Using a mouse model, we demonstrate robust phenotypic reversal, as activation of MeCP2 expression leads to striking loss of advanced neurological symptoms in both immature and mature adult animals.

  10. Ischaemic strokes with reversible vasoconstriction and without thunderclap headache: a variant of the reversible cerebral vasoconstriction syndrome?

    PubMed

    Wolff, Valérie; Armspach, Jean-Paul; Lauer, Valérie; Rouyer, Olivier; Ducros, Anne; Marescaux, Christian; Gény, Bernard

    2015-01-01

    Reversible vasoconstriction (RV) may cause ischaemic stroke (IS) in the absence of any other defined stroke aetiology. The three objectives of our study were to evaluate the frequency of RV in a prospective series of young IS patients, to describe the detailed clinical-radiological features in the patients with RV and IS, and to compare these characteristics with those of reversible cerebral vasoconstriction syndrome (RCVS). We identified between October 2005 and December 2010, 159 consecutive young patients (<45 years) hospitalized for an acute IS confirmed by cerebral magnetic resonance imaging. An extensive diagnostic work-up was performed including toxicological urinary screening for cannabis, cocaine and amphetamines, and the usual biological, cardiac and vascular investigations for an IS in the young. We specifically studied patients with IS and RV, which was defined as multifocal intracranial arterial stenoses confirmed by intracranial arterial imaging that resolved within 3-6 months. Out of 159 patients with IS, 21 (13%, 12 males, 9 females; mean age 32 years) had multifocal cerebral arterial stenoses that were fully reversible at 3-6 months, and no other cause for stroke. IS were located on posterior territory in 71% of cases, and vasoconstriction predominated on posterior cerebral and superior cerebellar arteries. Precipitating factors of IS and RV were the use of cannabis resin (n = 14), nasal decongestants (n = 2) and triptan (n = 1). Most cases (74%) had unusual severe headache, but none had thunderclap headache. None of 21 cases had reversible posterior leukoencephalopathy, cortical subarachnoid or intracerebral haemorrhage. RV was the sole identified cause of IS in 13% of our cohort. These young patients with IS and RV may have a variant of RCVS, related to an increased susceptibility to vasoactive agents in some individuals. RV in our patients differs from the classical characteristics of RCVS by the absence of thunderclap headache, reversible brain

  11. Reversible Cerebral Vasoconstriction Syndrome, Part 2: Diagnostic Work-Up, Imaging Evaluation, and Differential Diagnosis.

    PubMed

    Miller, T R; Shivashankar, R; Mossa-Basha, M; Gandhi, D

    2015-09-01

    The diagnostic evaluation of a patient with reversible cerebral vasoconstriction syndrome integrates clinical, laboratory, and radiologic findings. Imaging plays an important role by confirming the presence of cerebral vasoconstriction; monitoring potential complications such as ischemic stroke; and suggesting alternative diagnoses, including CNS vasculitis and aneurysmal subarachnoid hemorrhage. Noninvasive vascular imaging, including transcranial Doppler sonography and MR angiography, has played an increasingly important role in this regard, though conventional angiography remains the criterion standard for the evaluation of cerebral artery vasoconstriction. Newer imaging techniques, including high-resolution vessel wall imaging, may help in the future to better discriminate reversible cerebral vasoconstriction syndrome from primary angiitis of the CNS, an important clinical distinction. © 2015 by American Journal of Neuroradiology.

  12. [Prolonged cerebral salt wasting following craniopharyngioma surgery and posterior reversible encephalopathy syndrome: a case report].

    PubMed

    Ohtonari, Tatsuya; Hashimoto, Masanori; Urasaki, Eiichiro; Yokota, Akira; Araki, Shunsuke; Asayama, Koutaro; Shirahata, Akira

    2005-01-01

    A 9-year-old boy was admitted to our hospital with daytime urinary incontinence for the past one year. MRI showed craniopharyngioma occupying the third ventricle. The tumor was excised by interhemispheric approach. Because hyponatremia and polyuria with high renal loss of sodium were observed on postoperative day 3, hydrocortisone and DDAVP were replaced. On postoperative day 24, successive general convulsions and hyponatremia recurred, and MRI FLAIR imaging showed marked brain edema in the bilateral parieto-occipital lobes. This finding disappeared late in the course of treatment, and the case was diagnosed as posterior reversible encephalopathy syndrome. The pathophysiology of cerebral salt wasting and posterior reversible encephalopathy syndrome in a craniopharyngioma patient are also discussed in the article.

  13. [Reversible cerebral vasoconstriction syndrome. Challenge for diagnostics and intensive care therapy].

    PubMed

    Jansen, G; Mertzlufft, F; Bach, F

    2015-08-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a disease of unclear incidence frequently affecting middle aged women and is usually associated with use of adrenergic or serotoninergic substances. The exclusion of relevant differential diagnoses, such as aneurysmal subarachnoid hemorrhage, primary cerebral angiitis, posterior reversible encephalopathy syndrome and carotid artery dissection is critical in terms of time and significance. Thunderclap headache as well as multiple and multilocular vasospasms with direct or indirect angiography without substantial findings in cerebrospinal fluid diagnostics are typical symptoms. The necessity for intensive care treatment is often justified by initial acute impairment of vital functions and possible development of cerebral or extracerebral complications. Because the exact pathophysiology remains unknown, a specific therapy does not exist. This poses significant challenges in intensive care medicine, which are illustrated on the basis of the case study presented.

  14. Reversible cerebral vasoconstriction syndrome is a rare cause of stroke after carotid endarterectomy.

    PubMed

    Causey, Marlin Wayne; Amans, Matthew R; Han, Sukgu; Higashida, Randall T; Conte, Michael

    2016-12-01

    Neurologic events after carotid endarterectomy (CEA) require prompt diagnosis and management to avoid potentially catastrophic sequelae. This report describes a 69-year-old gentleman who underwent a left CEA for a high-grade asymptomatic carotid stenosis with concomitant contralateral carotid occlusion. He had transient and crescendo neurologic events in the first 3 postoperative weeks that culminated in right hand weakness and paresthesia, despite dual antiplatelet therapy, maximal anticoagulation, and undergoing stenting of the endarterectomy site. Neurologic events recurred despite these measures and subsequent angiography showed reversible cerebral vasoconstriction syndrome that was successfully managed without further events. Reversible cerebral vasoconstriction syndrome is an unusual but important cause of neurologic events after CEA that requires aggressive and directed medical therapy. Published by Elsevier Inc.

  15. Linguistic history of posterior reversible encephalopathy syndrome: mirror of developing knowledge.

    PubMed

    Maizlin, Zeev V; Ghandehari, Hournaz; Maizels, Leonid; Shewchuk, Jason R; Kirby, John M; Vora, Parag; Clement, Jason J

    2011-01-01

    the term posterior reversible encephalopathy syndrome (PRES) was first proposed in 2000. Since then, the acronym PRES has become very popular in imaging and clinical literature as it is short, easy to say and remember, and neatly couples the frequent localization of neuroimaging findings along with the typical outcome of this syndrome. Another possible reason for the popularity of this acronym in clinical circles is the connotation of PRES with (elevated blood) PRESsure, as a majority of cases are believed to be associated with hypertension. However, problems exist with the interpretation and common understanding of PRES, questioning the appropriateness of "P" and "R" in the acronym. The linguistic issues related to the acronym of PRES are interesting. the aim of this work is to analyze the controversies related to the acronym of PRES. in 2006, modifying the meaning of the acronym was suggested, renaming it Potentially Reversible Encephalopathy Syndrome in order to adjust to the cases when posterior involvement is not prominent and emphasize that the reversibility is not spontaneous. This meant the creation of a backronym, where the new phrase is constructed by starting with an existing acronym. this new backronym indicates that the original acronym of PRES has become a misnomer.

  16. Reversible cerebral vasoconstriction syndrome manifesting as focal seizures without a thunderclap headache: A pediatric case report.

    PubMed

    Kuga, Shuji; Goto, Hironori; Okanari, Kazuo; Maeda, Tomoki; Ihara, Kenji

    2016-10-01

    We report a pediatric case of reversible cerebral vasoconstriction syndrome with focal seizures without a thunderclap headache. A 7-year-old girl had a mild acute headache with nausea after swimming. She subsequently developed hemi-convulsions followed by right hemiplegia. Brain magnetic resonance angiography revealed generalized vasoconstriction of the main cerebral peripheral arteries. Her hemiplegia was spontaneously resolved within 6h. Over the next 24h she suffered from recurrent and transient headaches, which recurred on days 3 and 5. Follow-up magnetic resonance angiography on day 3 documented the multifocal narrowing of the main cerebral arteries, which was observed to have diminished at 12weeks after her initial presentation. She did not have any headaches or neurological deficits after day 5. This case indicates that reversible cerebral vasoconstriction syndrome should be considered in children with focal seizures even when they do not present with thunderclap headaches. The timely and appropriate evaluation by magnetic resonance angiography and imaging is essential for diagnosing reversible cerebral vasoconstriction syndrome.

  17. Posterior reversible encephalopathy syndrome and stroke after intravenous immunoglobulin treatment in Miller-Fisher syndrome/Bickerstaff brain stem encephalitis overlap syndrome.

    PubMed

    Stetefeld, Henning R; Lehmann, Helmar C; Fink, Gereon R; Burghaus, Lothar

    2014-10-01

    The association of a posterior reversible encephalopathy syndrome (PRES) without arterial hypertension with autoimmune-mediated inflammatory neuropathies such as Guillain-Barré syndrome (GBS) is a rare and poorly understood phenomenon. To date, PRES has been described as initial manifestation, coincidental finding, or adverse event subsequent to immunomodulatory treatment with intravenous immunoglobulin (IVIG) in cases of axonal and demyelinating GBS as well as in Miller-Fisher syndrome (MFS). We here report a case of MFS/Bickerstaff brain stem encephalitis (BBE)-overlap syndrome and nonhypertensive PRES that occurred in close temporal association with IVIG treatment and caused stroke. Immunoadsorption ameliorated the disease course. Our case supports the notion that in severe cases, immunoadsorption should be considered as first-line therapy instead of IVIG for rapid removal of IgG and thus to hasten recovery and improve functional outcome. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  18. Perioperative posterior reversible encephalopathy syndrome in 2 pediatric neurosurgery patients with brainstem ependymoma.

    PubMed

    Gephart, Melanie G Hayden; Taft, Bonnie P; Giese, Anne-Katrin; Guzman, Raphael; Edwards, Michael S B

    2011-03-01

    Posterior reversible encephalopathy syndrome (PRES) has been described in pediatric neurooncology patients, although it has not been documented perioperatively in pediatric neurosurgery patients not actively receiving chemotherapy. Recently at the authors' facility, 2 cases of PRES were diagnosed perioperatively in children with brainstem ependymoma. Both patients had presented with hypertension, altered mental status, and seizures and demonstrated MR imaging features consistent with PRES. The patients were treated with antiseizure and antihypertension medications, leading to improvement in both clinical symptoms and neuroimaging findings. These cases are the first to document PRES in perioperative pediatric neurosurgery patients not actively receiving chemotherapy. Both patients had ependymoma involving the brainstem, which may have led to intra- and perioperative hemodynamic instability (including hypertension) and predisposed them to this syndrome. An awareness of PRES in similar scenarios will aid in the prevention, diagnosis, and treatment of pediatric neurosurgery patients with this syndrome.

  19. Oxaliplatin-induced posterior reversible encephalopathy syndrome with isolated involvement of pons.

    PubMed

    Tang, Koay Hean

    2015-01-01

    Isolated pontine lesion can be caused by the posterior reversible encephalopathy syndrome (PRES). It does occur in the normotensive patient who is treated with oxaliplatin. We reported a case of 81-year-old Chinese man with metastatic colorectal carcinoma who was initially treated with capecitabine. No significant adverse effects were noted. However, the response to the treatment was poor. Subsequently, Xelox was given. He developed transient altered mental status. Oxaliplatin was thought to be the causative agent and was withheld. Magnetic resonance imaging brain revealed vasogenic edema in the pons that was reversible after 2 weeks, as well as complete resolution of clinical symptoms. Early identification of the reversible cause of isolated pontine lesion, such as chemo, triggered PRES is crucial to facilitate prompt treatment by removing the offending agent or reducing the dose.

  20. Cortical subarachnoid hemorrhage associated with reversible cerebral vasoconstriction syndrome after elective triplet cesarean delivery.

    PubMed

    Albano, Beatrice; Del Sette, Massimo; Roccatagliata, Luca; Gandolfo, Carlo; Primavera, Alberto

    2011-06-01

    Reversible cerebral vasoconstriction syndromes (RCVS) comprise a group of disorders characterized by prolonged, but reversible vasoconstriction of the cerebral arteries, usually associated with acute-onset, severe, recurrent headaches, with or without additional neurological signs and symptoms. Various complications of this condition have been observed, such as cortical subarachnoid hemorrhages (cSAH), intracerebral hemorrhages, reversible posterior leukoencephalopathy, ischaemic strokes and transient ischaemic attacks. It is important to include RCVS in thunderclap headache differential diagnosis and among non-aneurismatic subarachnoid hemorrhage causes. In the past years, thanks to the major diffusion of new diagnostic tools such as magnetic resonance, computed tomography and digital subtraction angiography, RCVS have been demonstrated to be more frequent than previously thought. We report an illustrative case of a woman affected by a small cSAH, associated to RCVS, after elective triplet cesarean delivery. To our knowledge, this is the first case of cSAH associated to RCVS after a triplet pregnancy.

  1. An often unrecognized cause of thunderclap headache: reversible cerebral vasoconstriction syndrome.

    PubMed

    Koopman, K; Teune, L K; ter Laan, M; Uyttenboogaart, M; Vroomen, P C; De Keyser, J; Luijckx, G J

    2008-12-01

    Thunderclap headache (TCH) can have several causes of which subarachnoid hemorrhage (SAH) is most common and well known. A rare cause of TCH is the reversible cerebral vasoconstriction syndrome (RCVS) which is characterized by a reversible segmental vasoconstriction of the intracranial vessels. We describe two patients with TCH due to RCVS and the probable precipitating factor, namely, cannabis and an anti-migraine drug. In RCVS, cerebrospinal fluid examination is (near) normal, in contrast to SAH and (primary) cerebral vasculitis. Brain MRI may be normal or shows infarction. MRA can demonstrate vasoconstriction of the great arteries, but a normal MRA does not rule out the diagnosis. Caliber changes on cerebral angiography cannot adequately differentiate between RCVS and vasculitis. Calcium-channel antagonists may be a good therapy and repeated transcranial Doppler ultrasonography can be a reliable non-invasive investigation to monitor the effect of treatment and demonstrate reversibility of the vasoconstriction.

  2. Dietary reversal of neuropathy in a murine model of prediabetes and metabolic syndrome.

    PubMed

    Hinder, Lucy M; O'Brien, Phillipe D; Hayes, John M; Backus, Carey; Solway, Andrew P; Sims-Robinson, Catrina; Feldman, Eva L

    2017-06-01

    Patients with metabolic syndrome, which is defined as obesity, dyslipidemia, hypertension and impaired glucose tolerance (IGT), can develop the same macro- and microvascular complications as patients with type 2 diabetes, including peripheral neuropathy. In type 2 diabetes, glycemic control has little effect on the development and progression of peripheral neuropathy, suggesting that other metabolic syndrome components may contribute to the presence of neuropathy. A parallel phenomenon is observed in patients with prediabetes and metabolic syndrome, where improvement in weight and dyslipidemia more closely correlates with restoration of nerve function than improvement in glycemic status. The goal of the current study was to develop a murine model that resembles the human condition. We examined longitudinal parameters of metabolic syndrome and neuropathy development in six mouse strains/genotypes (BKS-wt, BKS-Lepr(db/+) , B6-wt, B6-Lepr(db/+) , BTBR-wt, and BTBR-Lep(ob/+) ) fed a 54% high-fat diet (HFD; from lard). All mice fed a HFD developed large-fiber neuropathy and IGT. Changes appeared early and consistently in B6-wt mice, and paralleled the onset of neuropathy. At 36 weeks, B6-wt mice displayed all components of the metabolic syndrome, including obesity, IGT, hyperinsulinemia, dyslipidemia and oxidized low density lipoproteins (oxLDLs). Dietary reversal, whereby B6-wt mice fed a HFD from 4-20 weeks of age were switched to standard chow for 4 weeks, completely normalized neuropathy, promoted weight loss, improved insulin sensitivity, and restored LDL cholesterol and oxLDL by 50% compared with levels in HFD control mice. This dietary reversal model provides the basis for mechanistic studies investigating peripheral nerve damage in the setting of metabolic syndrome, and ultimately the development of mechanism-based therapies for neuropathy. © 2017. Published by The Company of Biologists Ltd.

  3. SMART syndrome: a late reversible complication after radiation therapy for brain tumours.

    PubMed

    Kerklaan, Joost P; Lycklama á Nijeholt, Geert J; Wiggenraad, Ruud G J; Berghuis, Bianca; Postma, Tjeerd J; Taphoorn, Martin J B

    2011-06-01

    With intensified treatment leading to longer survival, complications of therapy for brain tumours are more frequently observed. Regarding radiation therapy, progressive and irreversible white matter disease with cognitive decline is most feared. We report on four patients with reversible clinical and radiological features occurring years after radiation for brain tumours, suggestive for the so called SMART syndrome (stroke-like migraine attacks after radiation therapy). All four patients (males, age 36-60 years) had been treated with focal brain radiation for a primary brain tumour or with whole-brain radiation therapy for brain metastases. Ranging from 2 to 10 years following radiation therapy patients presented with headache and focal neurological deficits, suggestive for tumour recurrence. Two patients also presented with focal seizures. MRI demonstrated typical cortical swelling and contrast enhancement, primarily in the parieto-occipital region. On follow-up both clinical and MRI features improved spontaneously. Three patients eventually proved to have tumour recurrence. The clinical and radiological picture of these patients is compatible with the SMART syndrome, a rare complication of radiation therapy which is probably under recognized in brain tumour patients. The pathophysiology of the SMART syndrome is poorly understood but bears similarities with the posterior reversible encephalopathy syndrome (PRES). These four cases underline that the SMART syndrome should be considered in patients formerly treated with radiation therapy for brain tumours, who present with new neurologic deficits. Before the diagnosis of SMART syndrome can be established other causes, such as local tumour recurrence, leptomeningeal disease or ischemic disease should be ruled out.

  4. Children experience cognitive decline despite reversal of brain atrophy one year after resolution of Cushing syndrome.

    PubMed

    Merke, Deborah P; Giedd, Jay N; Keil, Margaret F; Mehlinger, Sarah L; Wiggs, E A; Holzer, Stuart; Rawson, Erin; Vaituzis, A Catherine; Stratakis, Constantine A; Chrousos, George P

    2005-05-01

    Adults with Cushing syndrome frequently develop brain atrophy, memory impairment, and depression, with partial to complete resolution after cure. The effect of excess glucocorticoid exposure on the brain of children has not been systematically studied. Eleven children (six girls, five boys; ages, 8-16 yr) with endogenous Cushing syndrome seen at the National Institutes of Health Clinical Center from 1999-2000 and 10 healthy age- and sex-matched control subjects were studied. Cognitive and psychological evaluations and magnetic resonance imaging of the brain were done before and 1 yr after cure for patients with Cushing syndrome and once for controls. The estimated duration of Cushing syndrome was 4.4 +/- 1.2 yr. When compared with control subjects, children with Cushing syndrome had significantly smaller cerebral volumes (P < 0.001), larger ventricles (P = 0.02), and smaller amygdala (P = 0.004). At baseline, there were no significant differences in IQ between the two groups, and no psychopathology was identified. Despite reversal of cerebral atrophy 1 yr after surgical cure (total cerebral volume, 947 +/- 94 vs.1050 +/- 74 ml, P < 0.001; ventricular volume, 21.4 +/- 12.5 vs. 14.5 +/- 11.6 ml, P < 0.001), children with Cushing syndrome experienced a significant (P < 0.05) decline in Wechsler IQ scores (Full Scale, 112 +/- 19 vs. 98 +/- 14) and a decline in school performance, without any associated psychopathology. The effect of glucocorticoid excess on the brain of children appears to be different from adults. Despite rapid reversibility of cerebral atrophy, children experience a significant decline in cognitive function 1 yr after correction of hypercortisolism.

  5. Reversible splenial lesion syndrome associated with encephalitis/encephalopathy presenting with great clinical heterogeneity.

    PubMed

    Zhu, Yuanzhao; Zheng, Junjun; Zhang, Ling; Zeng, Zhenguo; Zhu, Min; Li, Xiaobin; Lou, Xiaoliang; Wan, Hui; Hong, Daojun

    2016-04-18

    Reversible splenial lesion syndrome (RESLES) is a disorder radiologically characterized by reversible lesion in the splenium of the corpus callosum (SCC). Most of patients with RESLES associated with encephalitis/encephalopathy were identified in Japanese population, but almost no Chinese patients were diagnosed as RESLES associated with encephalitis/encephalopathy. Possible patients with reversible isolated SCC lesions were retrieved from January 2012 to July 2015 using keyword "restricted diffusion and isolated SCC lesion" in MRI report system from a large academic center. The clinical, laboratory and radiological data were summarized. A total of 15 encephalitis/encephalopathy patients (9 males and 6 females) were identified with a reversible isolated SCC lesion. Except for 13 patients with fever symptom, 8 patients also had cold symptoms before the onset of neurological symptoms. The neurological symptoms included headache, vertigo, seizure, disturbance of consciousness, and delirious behavior. Thirteen patients completely recovered within 1 month, but 2 patients who were subjected to mechanical ventilation had persistent neurological deficits. The initial MRI features showed isolated ovoid or extending SCC lesions with homogeneous hyperintense on diffusion weighted imaging (DWI) and decreased apparent diffusion coefficient (ADC) values. The follow-up MRI revealed that isolated SCC lesions with diffuse restriction disappeared at 10 to 32 days after the initial MRI study. Fractional anisotropy map revealed the decreased value of SCC lesion in a severe case with poor prognosis. RESLES associated with encephalitis/encephalopathy is a reversible syndrome with an excellent prognosis in most patients, while a few patients required ventilator supporting at the early stage might have severe neurological sequelae. Reversible signal changes on DWI and ADC are identified in all patients, but fractional anisotropy values can be decreased in severe patient with neurological

  6. Reversals.

    ERIC Educational Resources Information Center

    National Center on Educational Media and Materials for the Handicapped, Columbus, OH.

    Selected from the National Instructional Materials Information System (NIMIS)--a computer based on-line interactive retrieval system on special education materials--the bibliography covers nine materials for remediating reversals in handicapped students at the early childhood and elementary levels. Entries are presented in order of NIMIS accession…

  7. Dietary inorganic nitrate reverses features of metabolic syndrome in endothelial nitric oxide synthase-deficient mice.

    PubMed

    Carlström, Mattias; Larsen, Filip J; Nyström, Thomas; Hezel, Michael; Borniquel, Sara; Weitzberg, Eddie; Lundberg, Jon O

    2010-10-12

    The metabolic syndrome is a clustering of risk factors of metabolic origin that increase the risk for cardiovascular disease and type 2 diabetes. A proposed central event in metabolic syndrome is a decrease in the amount of bioavailable nitric oxide (NO) from endothelial NO synthase (eNOS). Recently, an alternative pathway for NO formation in mammals was described where inorganic nitrate, a supposedly inert NO oxidation product and unwanted dietary constituent, is serially reduced to nitrite and then NO and other bioactive nitrogen oxides. Here we show that several features of metabolic syndrome that develop in eNOS-deficient mice can be reversed by dietary supplementation with sodium nitrate, in amounts similar to those derived from eNOS under normal conditions. In humans, this dose corresponds to a rich intake of vegetables, the dominant dietary nitrate source. Nitrate administration increased tissue and plasma levels of bioactive nitrogen oxides. Moreover, chronic nitrate treatment reduced visceral fat accumulation and circulating levels of triglycerides and reversed the prediabetic phenotype in these animals. In rats, chronic nitrate treatment reduced blood pressure and this effect was also present during NOS inhibition. Our results show that dietary nitrate fuels a nitrate-nitrite-NO pathway that can partly compensate for disturbances in endogenous NO generation from eNOS. These findings may have implications for novel nutrition-based preventive and therapeutic strategies against cardiovascular disease and type 2 diabetes.

  8. Dietary inorganic nitrate reverses features of metabolic syndrome in endothelial nitric oxide synthase-deficient mice

    PubMed Central

    Carlström, Mattias; Larsen, Filip J.; Nyström, Thomas; Hezel, Michael; Borniquel, Sara; Weitzberg, Eddie; Lundberg, Jon O.

    2010-01-01

    The metabolic syndrome is a clustering of risk factors of metabolic origin that increase the risk for cardiovascular disease and type 2 diabetes. A proposed central event in metabolic syndrome is a decrease in the amount of bioavailable nitric oxide (NO) from endothelial NO synthase (eNOS). Recently, an alternative pathway for NO formation in mammals was described where inorganic nitrate, a supposedly inert NO oxidation product and unwanted dietary constituent, is serially reduced to nitrite and then NO and other bioactive nitrogen oxides. Here we show that several features of metabolic syndrome that develop in eNOS-deficient mice can be reversed by dietary supplementation with sodium nitrate, in amounts similar to those derived from eNOS under normal conditions. In humans, this dose corresponds to a rich intake of vegetables, the dominant dietary nitrate source. Nitrate administration increased tissue and plasma levels of bioactive nitrogen oxides. Moreover, chronic nitrate treatment reduced visceral fat accumulation and circulating levels of triglycerides and reversed the prediabetic phenotype in these animals. In rats, chronic nitrate treatment reduced blood pressure and this effect was also present during NOS inhibition. Our results show that dietary nitrate fuels a nitrate–nitrite–NO pathway that can partly compensate for disturbances in endogenous NO generation from eNOS. These findings may have implications for novel nutrition-based preventive and therapeutic strategies against cardiovascular disease and type 2 diabetes. PMID:20876122

  9. [Posterior reversible encephalopathy syndrome and cerebrovascular constriction syndrome in the differential diagnosis of post-partum headaches].

    PubMed

    Ruiz López, N; Cano Hernández, B; Balbás Álvarez, S

    2016-02-01

    Postpartum headache can be due to many causes. In a patient with previous epidural analgesia, the headache can be attributed to post-dural puncture headache, even if the symptoms are not typical of this clinical entity. We report a case of a post-partum with accidental dural tap during the insertion of an epidural catheter for labour analgesia, and who referred to headaches in the third post-partum day. Initially, a post-dural puncture headache was suspected, but the subsequent onset of seizures and visual impairment meant that the diagnosis had to be reconsidered. In this case report, the clinical and pathophysiological features of posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome, as well as the differential diagnosis of post-partum headaches are described. Copyright © 2014 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

    PubMed Central

    Teebi, A S; Miller, S; Ostrer, H; Eydoux, P; Colomb-Brockmann, C; Oudjhane, K; Watters, G

    1998-01-01

    Two female sibs of first cousin Iranian parents were found to have the syndrome of spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal female constitution in one and a male constitution (46,XY) in the other. The XY female showed normal female external genitalia, normal uterus and tubes, and streak gonads. SRY gene sequencing was normal. We conclude that the present family probably represents a new autosomal recessive trait of pleiotropic effects including XY sex reversal and adds further evidence for the heterogeneity of spastic paraplegia syndromes as well as sex reversal syndromes. Images PMID:9733035

  11. Early-onset Tourette syndrome with reversible autistic behaviour: a dysmaturational disorder.

    PubMed

    Zappella, M

    2002-02-01

    Early-onset Tourette syndrome comorbid with reversible autistic behaviour is described in twelve young males. After a normal gestation, delivery and first-year development, regression set in between the age of one and two with loss of various abilities and the emergence of autistic behaviour. At this time, or slightly later, they showed multiple motor and vocal tics, simple and complex: the latter could also be traced to most of their parents. Following an intervention based on intense cuddling, motor activation and paedagogic guidance, these children's abilities rapidly improved, reaching at follow-up a normal or borderline intellectual functioning and with the disappearance of their initial autistic behaviour. At follow-up tics were present in all, usually with the features of a full-blown Tourette syndrome, often comorbid with ADHD, and in some cases with OCD.

  12. Recurrent posterior reversible encephalopathy syndrome in a hypertensive patient with end-stage renal disease.

    PubMed

    Ergün, Tarkan; Lakadamyali, Hatice; Yilmaz, Aynur

    2008-12-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiologic entity characterized by headache, variable mental status, epilepsy, visual disturbances, and typical transient changes in the posterior cerebral perfusion. Recurrence of PRES is not common, but increasingly in recent years, studies demonstrate recurrence of this syndrome in populations with different diseases. In this report, we describe recurrent PRES in a hypertensive patient with end-stage renal disease, and discuss recurrence as the least-characterized feature of PRES. This condition can cause neurological sequelae such as persistent brain damage and epilepsy, arising from delays in diagnosis and therapy. To the best of our knowledge, this is the first report demonstrating recurrent PRES in a patient on hemodialysis for end-stage renal disease.

  13. Atypical presentation of posterior reversible encephalopathy syndrome: Clinical and radiological characteristics in eclamptic patients

    PubMed Central

    Aracki-Trenkić, Aleksandra; Stojanov, Dragan; Trenkić, Milan; Radovanović, Zoran; Ignjatović, Jelena; Ristić, Saša; Trenkić-Bozinović, Marija

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is an obstetric emergency frequently occurring in a pregnant or puerperal woman, manifested with an acute headache, consciousness impairment, seizures, and visual deficits and is associated with white matter changes predominantly affecting the posterior parietal and occipital lobes of the brain. Apart from the above-described typical location of the changes, the most common atypical location involves the brain stem and basal ganglia. Since magnetic resonance imaging (MRI) is more sensitive and specific imaging technique compared to computerized tomography, establishing the diagnosis and follow-up in patients with PRES is based mainly on MRI findings. It is particularly important not to exclude PRES as a possible diagnosis when we have the appropriate clinical presentation accompanied by the atypical radiological findings, since this clinical-radiological syndrome can often be manifested with an atypical MRI image. PMID:27322924

  14. Posterior reversible encephalopathy syndrome in a child with Henoch-Schönlein purpura

    PubMed Central

    Sivrioglu, Ali Kemal; Incedayi, Mehmet; Mutlu, Hakan; Meral, Cihan

    2013-01-01

    Henoch-Schönlein purpura (HSP) is a small vessel vasculitis that affects the gastrointestinal and central nervous systems and the kidneys. The disease primarily affects children, but may occur in elderly children with allergic purpura and also in adults. Central nervous system involvement may be the first sign; however, it is rarely encountered. Posterior reversible encephalopathy syndrome (PRES) is a clinical syndrome of encephalopathy, headache, visual disturbance and seizures. Its radiological signs can be observed in grey and white matter at the posterior region of the cerebral hemispheres. HSP should be considered in children with PRES in the presence of rash, joint and gastrointestinal symptoms. We reported a 5-year-old patient who developed acute renal failure and PRES by reason of HSP. PMID:23946524

  15. The syndrome gelastic seizures-hypothalamic hamartoma: severe, potentially reversible encephalopathy.

    PubMed

    Striano, Salvatore; Striano, Pasquale; Coppola, Antonietta; Romanelli, Pantaleo

    2009-05-01

    Hypothalamic hamartoma (HH) is the pathologic hallmark of a spectrum of epileptic conditions, ranging from a mild form of epilepsy, whose seizures are an urge to laugh without cognitive defects, to the fully developed syndrome of early onset gelastic seizures (GS) associated with precocious puberty and the evolution to a catastrophic epilepsy syndrome. However, a refractory focal or generalized epilepsy develops during the clinical course in nearly all cases. Neurophysiologic and neuroimaging studies have assessed the role of HH in the generation of the GS as well as in the process of secondary epileptogenesis. Electrophysiologic properties of small gamma-aminobutyric acid (GABA)ergic, spontaneously firing neurons might explain the intrinsic epileptogenicity of HH. Surgical ablation of the HH can reverse both epilepsy and encephalopathy. Gamma-knife radiosurgery and image-guided robotic radiosurgery can be useful and safe approaches for treatment, in particular of small HH.

  16. Posterior reversible encephalopathy syndrome in a patient with hepatitis B induced type 1 membranoproliferative glomerulonephritis.

    PubMed

    Sathyanarayanan, Vishwanath; Razak, Abdul; Narayan, Girish; Prabhu, Mukhyaprana; Ramachandran, Balasubramanian; Ranjini, Kudva; Vidya, Monappa; Joshi, Kusum

    2010-12-01

    Posterior reversible encephalopathy syndrome (PRES) is a rare complication of nephrotic syndrome and corticosteroid therapy. Here, we discuss an 18 year old man with type 1 membranoproliferative glomerulonephritis (MPGN) secondary to hepatitis B infection who developed posterior leukoencephalopathy while on therapy with lamivudine and prednisone. He developed seizures and vision loss. He also had hypertension, but no sudden elevation was recorded at any time. Magnetic resonance imaging revealed patchy areas of altered signal intensity involving cortical gray and subcortical white matter in the bilateral frontoparietal regions, occipital cortices, temporal cortices and cerebellar hemispheres, and hyperintensity on T2W and FLAIR sequences. Tapering of prednisone and controlling hypertension resulted in clinical improvement within a few days, and in a month MRI was normal. Diagnosing PRES requires a high index of suspicion when treating similarly susceptible patients. PRES as a complication during the treatment of MPGN secondary to hepatitis B has, to our knowledge, never been reported previously in the literature.

  17. Neuromyelitis Optica in Pregnancy Complicated by Posterior Reversible Encephalopathy Syndrome, Eclampsia and Fetal Death

    PubMed Central

    Igel, Catherine; Garretto, Diana; Robbins, Matthew S; Swerdlow, Michael; Judge, Nancy; Dayal, Ashlesha

    2015-01-01

    Neuromyelitis optica (NMO) is a demyelinating syndrome characterized by optic neuritis and acute myelitis with poor recovery and a progressive course. We report a poor outcome complicated by posterior reversible encephalopathy syndrome (PRES) and eclampsia and review available literature and current evidence for anticipation of adverse fetal and maternal effects. After a pregnancy complicated by multiple admissions for painful NMO exacerbations, a primiparous patient with seropositive NMO presented at 31 + 3/7 weeks with eclampsia, HELLP and subsequent fetal death. MRI confirmed PRES. NMO may be associated with eclampsia and leads to adverse maternal and fetal outcomes. Posited mechanisms include antibody-mediated placental damage and a heightened risk of eclampsia-associated PRES. Further characterization of the course of NMO and its relationship with pregnancy outcomes in larger series would be invaluable. PMID:25584107

  18. Gemcitabine and Cisplatin induced posterior reversible encephalopathy syndrome: A case report with review of literature

    PubMed Central

    Kabre, Rohit Santosh; Kamble, Krishna Marotirao

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a recently described, scarcely documented clinical entity. PRES is caused by various factors, the most common being hypertension, followed by nonhypertensive causes such as renal diseases and immunosuppressive therapy. Recently, some cases have been reported about the association of increased use of cytotoxic and immunosuppressive agents in cancer patients, and relevant reports have increased with advances in radiological examinations. Here, we report a case of gallbladder cancer with liver metastasis undergoing gemcitabine- and cisplatin-based chemotherapy who presented with complaints of seizures, headache, and bilateral lower limb weakness. Thorough clinical examination, biochemical analysis, and radiological evaluation led to diagnosis of PRES. It is important to recognize this syndrome which will facilitate early diagnosis and prompt symptomatic management. Removal of causative agent is an important aspect of management. Studies are needed to identify factors of adverse prognostic significance and to develop neuroprotective strategies. PMID:27843969

  19. Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation

    SciTech Connect

    Ninomiya, Shinsuke; Narahara, Kouji; Tsuji, Kazushiro

    1995-03-13

    The association of rare chromosomal rearrangements involving a specific 17q breakpoint with campomelic syndrome (CMPS) and/or sex reversal (SR) has led to an assignment of the CMPS1/SRA1 locus to 17q24.3 {yields} q25.1. We describe a patient with multiple anomalies and SR, who had a de novo t(12;17) translocation. The phenotype was consistent with that of CMPS except for the lack of lower limb bowing and talipes equinovarus. Chromosome painting indicated that the breakpoints appeared to have occurred at 12q21.32 and 17q24.3 or q25.1. CMPD with SR represents a variant of the CMPS1/SRA1 locus disorder. We emphasize the likelihood that CMPS may be a contiguous gene syndrome. 18 refs., 4 figs., 1 tab.

  20. Atypical Unilateral Posterior Reversible Encephalopathy Syndrome Mimicking a Middle Cerebral Artery Infarction.

    PubMed

    Çamlıdağ, İlkay; Cho, Yang-Je; Park, Mina; Lee, Seung Koo

    2015-01-01

    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.

  1. Primary angiitis of the central nervous system and reversible cerebral vasoconstriction syndrome.

    PubMed

    Hammad, Tariq A; Hajj-Ali, Rula A

    2013-08-01

    Primary angiitis of the central nervous system (PACNS) is one of the most devastating pathologic processes that affect the central nervous system (CNS). It results in exclusive inflammation and destruction of CNS blood vessels. Progressive debilitating unexplained neurological deficit associated with abnormal cerebrospinal fluid (CSF) analysis findings is the typical picture of the disease. CNS biopsy is the gold standard diagnostic test. Immunosuppressive therapy is the core treatment. Reversible cerebral vasoconstriction syndrome (RCVS) is a main mimic of PACNS. RCVS is characterized clinically by recurrent thunderclap headache with or without neurological deficit and normal CSF analysis findings and angiographically by reversible diffuse segmental vasospasm of intracranial vessels. A stepwise diagnostic approach should be followed to differentiate PACNS from RCVS and exclude the other clinical, radiographic, and angiographic mimics.

  2. Diffuse cerebrovascular dilation: Case report of amezinium metilsulfate-induced reversible cerebral vasoconstriction syndrome.

    PubMed

    Kobayashi, Makoto

    2016-03-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by recurrent thunderclap headaches with reversible cerebral vasoconstriction, and often precipitated by the postpartum state and vasoactive medications. We describe a case of a patient with RCVS induced by amezinium metilsulfate, a sympathomimetic drug, in whom magnetic resonance angiography (MRA) initially revealed diffusely dilated cerebral arteries. A 34-year-old woman was prescribed amezinium metilsulfate for hypotension. Twelve days later, she suffered from abrupt severe headaches and was referred to our department. She had no neurological deficits; however, MRA revealed diffusely dilated anterior, middle, and posterior cerebral arteries with vasoconstriction. She was tentatively diagnosed with RCVS and successfully treated with verapamil for headache. Nevertheless, follow-up MRAs disclosed widespread segmental vasoconstriction that resolved in two months. Diffuse cerebrovascular dilation has not been addressed but may be associated with RCVS pathophysiology. In addition, physicians should bear in mind that amezinium metilsulfate can potentially induce RCVS. © International Headache Society 2015.

  3. Reversible Cerebral Vasoconstriction Syndrome with Intracranial Hypertension: Should Decompressive Craniectomy Be Considered?

    PubMed Central

    Mrozek, Ségolène; Lonjaret, Laurent; Jaffre, Aude; Januel, Anne-Christine; Raposo, Nicolas; Boetto, Sergio; Albucher, Jean-François; Fourcade, Olivier; Geeraerts, Thomas

    2017-01-01

    Background Reversible cerebral vasoconstriction syndrome (RCVS) is a rare cause of intracerebral hemorrhage (ICH) causing intracranial hypertension. Methods Case report. Results We report a case of RCVS-related ICH leading to refractory intracranial hypertension. A decompressive craniectomy was performed to control intracranial pressure. We discuss here the management of RCVS with intracranial hypertension. Decompressive craniectomy was preformed to avoid the risky option of high cerebral perfusion pressure management with the risk of bleeding, hemorrhagic complications, and high doses of norepinephrine. Neurological outcome was good. Conclusion RCVS has a complex pathophysiology and can be very difficult to manage in cases of intracranial hypertension. Decompressive craniectomy should probably be considered. PMID:28203185

  4. Posterior reversible encephalopathy syndrome in a hypertensive patient with renal failure.

    PubMed

    Aatif, T; El Farouki, M R; Benyahia, M

    2016-03-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinical and neuroimaging entity characterized by headache, visual field deficits, changes in mentation and seizures, and by typical neuro-imaging features such as areas of sub-cortical edema, occasionally cortical, involving predominantly the occipital and parietal lobes of both hemispheres. Hypertension, uremia, immunosuppressive drugs neurotoxicity, preeclampsia or eclampsia, renal disease, and sepsis are the most common etiologies of PRES. Less common, it has been described in the setting of autoimmune disease. We report a case of PRES which was associated with hypertensive crisis in a patient with renal failure. Antihypertensive therapy and hemodialysis resulted in complete recovery.

  5. Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells.

    PubMed

    Izzo, Antonella; Nitti, Maria; Mollo, Nunzia; Paladino, Simona; Procaccini, Claudio; Faicchia, Deriggio; Calì, Gaetano; Genesio, Rita; Bonfiglio, Ferdinando; Cicatiello, Rita; Polishchuk, Elena; Polishchuk, Roman; Pinton, Paolo; Matarese, Giuseppe; Conti, Anna; Nitsch, Lucio

    2017-01-13

    Alterations in mitochondrial activity and morphology have been demonstrated in human cells and tissues from individuals with Down syndrome (DS), as well as in DS mouse models. An impaired activity of the transcriptional coactivator PGC-1α/PPARGC1Adue to the overexpression of chromosome 21 genes, such as NRIP1/RIP140, has emerged as an underlying cause of mitochondrial dysfunction in DS. We tested the hypothesis that the activation of the PGC-1α pathway might indeed reverse this mitochondrial dysfunction.

  6. An unusual presentation of a rare disease: posterior reversible encephalopathy syndrome following abdominal sepsis

    PubMed Central

    Richards, Carly R.N.; McMurray, Robert C.; Criman, Erik T.; Clark, Margaret E.; Gillern, Suzanne

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is an unusual disease of unknown incidence and cause. There are a wide range of associated, predisposing medical causes to include pregnancy, renal failure, immunosuppressive medication administration and hypertension. The diagnosis is made following the radiographic identification of characteristic vasogenic edema in the setting of neurologic impairment. A significant portion of patients will have long-term, if not permanent, sequelae of the disease. We present a patient who developed PRES following a hemicolectomy that was complicated by an anastomotic leak. She went on to a complete recovery following surgical treatment of the leak and supportive care. PMID:27887021

  7. Lysergic acid amide-induced posterior reversible encephalopathy syndrome with status epilepticus.

    PubMed

    Legriel, Stephane; Bruneel, Fabrice; Spreux-Varoquaux, Odile; Birenbaum, Aurelie; Chadenat, Marie Laure; Mignon, François; Abbosh, Nathalie; Henry-Lagarrigue, Matthieu; Revault D'Allonnes, Laure; Guezennec, Pierre; Troche, Gilles; Bedos, Jean Pierre

    2008-01-01

    Posterior reversible encephalopathy syndrome (PRES) is known to occur in association with several substances. However, lysergic acid amide (LSA) is not among the previously reported causes of PRES. We report on a patient with PRES presenting as convulsive status epilepticus associated with hypertensive encephalopathy after LSA ingestion. Magnetic resonance imaging was performed and catecholamine metabolites assayed. The patient achieved a full recovery after aggressive antihypertensive therapy and intravenous anticonvulsivant therapy. The clinical history, blood and urinary catecholamine levels, and response to treatment strongly suggest that PRES was induced by LSA. LSA, a hallucinogenic agent chiefly used for recreational purposes, should be added to the list of causes of PRES.

  8. Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Accompanied by Prolonged Vasoconstriction

    PubMed Central

    Takata, Tadayuki; Kume, Kodai; Kokudo, Yohei; Ikeda, Kazuyo; Kamada, Masaki; Touge, Tetsuo; Deguchi, Kazushi; Masaki, Tsutomu

    2017-01-01

    A 20-year-old Japanese woman had an attack of acute intermittent porphyria (AIP). Magnetic resonance imaging (MRI) revealed symmetrical lesions in the cerebrum and cerebellar hemisphere, corresponding to posterior reversible encephalopathy syndrome (PRES). Our administration of heme arginate gradually improved the clinical condition associated with AIP and the level of metabolite of nitric oxide (NO), which is a vascular dilator. Repeated MRI and magnetic resonance angiography revealed exacerbated PRES, part of which showed a small infarction, accompanied by progressive vasoconstriction. These findings suggest that the recovery of NO by heme replacement alone is insufficient for preventing brain damage during an AIP attack. PMID:28321076

  9. [A Case of Juvenile Cerebral Infarction due to Reversible Cerebral Vasoconstriction Syndrome].

    PubMed

    Koh, Masaki; Tsuboi, Yoshifumi; Fukuda, Osamu

    2016-11-01

    A 19-year-old woman had a thunderclap headache, followed by left hemiparesis and left homonymous hemianopsia. Laboratory tests showed no signs of infection and immunological test results were unremarkable. MRI revealed a cerebral infarction in the right posterior cerebral artery territory, and digital subtraction angiography(DSA)showed right posterior cerebral artery stenosis on day 2. The first follow-up DSA demonstrated an irregular, bead-like appearance on day 9, but the stenotic lesion returned to normal on day 21. Reversible cerebral vasoconstriction syndrome should be suspected in cases of rapid resolution of symptoms.

  10. Triptan-induced Reversible Cerebral Vasoconstriction Syndrome: Two Case Reports with a Literature Review.

    PubMed

    Kato, Yuji; Hayashi, Takeshi; Mizuno, Satoko; Horiuchi, Yohsuke; Ohira, Masayuki; Tanahashi, Norio; Takao, Masaki

    We encountered two patients with sumatriptan-induced reversible cerebral vasoconstriction syndrome (RCVS). The present patients were taking sumatriptan for the first time because they had been tentatively diagnosed with a migraine. On reviewing the literature, we found nine other cases of triptan-induced RCVS, predominantly among women aged 30 to 40 years. RCVS has been precipitated by triptan at the first ever use, after daily use, and even with long-term use at a normal dose. Patients with acute onset of severe headache should be thoroughly evaluated, and triptan should be administered appropriately. If triptan-induced RCVS is suspected, vascular imaging should be repeated after several days.

  11. Triptan-induced Reversible Cerebral Vasoconstriction Syndrome: Two Case Reports with a Literature Review

    PubMed Central

    Kato, Yuji; Hayashi, Takeshi; Mizuno, Satoko; Horiuchi, Yohsuke; Ohira, Masayuki; Tanahashi, Norio; Takao, Masaki

    2016-01-01

    We encountered two patients with sumatriptan-induced reversible cerebral vasoconstriction syndrome (RCVS). The present patients were taking sumatriptan for the first time because they had been tentatively diagnosed with a migraine. On reviewing the literature, we found nine other cases of triptan-induced RCVS, predominantly among women aged 30 to 40 years. RCVS has been precipitated by triptan at the first ever use, after daily use, and even with long-term use at a normal dose. Patients with acute onset of severe headache should be thoroughly evaluated, and triptan should be administered appropriately. If triptan-induced RCVS is suspected, vascular imaging should be repeated after several days. PMID:27904122

  12. Posterior Reversible Encephalopathy Syndrome with Extensive Deep White Matter Lesions Including the Temporal Pole

    PubMed Central

    Ohira, Junichiro; Mori, Nobuyuki; Kajikawa, Shunsuke; Nakamura, Takeshi; Arisato, Tetsuya; Takahashi, Makio

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) typically affects the posterior subcortical white matter. We report the case of a 55-year-old man with atypical PRES, who had malignant hypertension and renal dysfunction. Magnetic resonance imaging of the brain revealed extensive vasogenic edema in the deep white matter including the temporal pole, as well as in the brainstem and cerebellum. Antihypertensive therapy and hemodialysis contributed to both clinical and radiological improvement. Involvement of the deep white matter including the temporal pole, which is rarely affected in an ischemic stroke, should be recognized as a potential sign of PRES. PMID:27904123

  13. Reversible alterations in cardiac morphology and functions in a patient with Cushing's syndrome

    PubMed Central

    2014-01-01

    Summary A 45-year-old female was referred for endocrine evaluation of an incidental mass (31×24 mm in diameter) on the right adrenal gland. The patient was normotensive and nondiabetic, and had no history of generalised obesity (body weight, 46 kg at 20 years of age and 51.2 kg on admission); however, her waist-to-hip ratio was 0.97. Elevated urinary free cortisol levels (112–118 μg/day) and other findings indicated adrenocorticotrophic hormone-independent Cushing's syndrome due to right adrenocortical adenoma. Echocardiography before adrenalectomy revealed concentric left ventricular (LV) hypertrophy with a particular increase in interventricular septum thickness leading to impaired systolic and diastolic functions. Upon surgical remission of hypercortisolism, the asymmetric hypertrophy disappeared and the cardiac dysfunctions were considerably ameliorated. Although the mechanism(s) by which excessive cortisol contributes to LV wall thickness remain(s) unclear, serial echocardiography and cardiac multidetector-row computed tomography may support the notion that abnormal fat deposition in the myocardium owing to hypercortisolism appears to be an important factor for the reversible change in the cardiac morphology. Learning points Patients with Cushing's syndrome occasionally exhibit severe LV hypertrophy related to systolic and diastolic dysfunctions although they have neither hypertension nor diabetes mellitus.Biological remission of hypercortisolism can normalise structural and functional cardiac parameters and help in differentiating the cardiac alterations induced by excessive cortisol from those induced by other diseases.Excessive lipid accumulation within the heart before myocardial fibrosis may be implicated in reversible alterations in the cardiac morphology by Cushing's syndrome.Early diagnosis and treatment of Cushing's syndrome appear to be pivotal in preventing irreversible cardiac dysfunctions subsequent to cardiovascular events and heart

  14. Reversible cerebral vasoconstriction syndrome or primary angiitis of the central nervous system?

    PubMed

    Gerretsen, Philip; Kern, Ralph Z

    2007-11-01

    Reversible Cerebral Vasoconstriction Syndrome (RCVS) may present as thunderclap headache (TCH), accompanied by reversible cerebral vasospasm and focal neurological deficits, often without a clear precipitant. RCVS may be mistaken for Primary Angiitis of the Central Nervous System (PACNS) due to the presence of similar angiographic features of segmental narrowing of cerebral arteries. We discuss the clinical features of a young female migraine patient who developed TCH and was found to have RCVS following initial treatment with corticosteroids for PACNS, in the context of a systematic review of the available medical literature. A Medline search was performed to identify all case reports since 1966 describing RCVS and PACNS that provide sufficient clinical detail to permit diagnostic classification according to published criteria. RCVS included case studies in which there was angiographic or transcranial Doppler ultrasound evidence of near-to-complete resolution of cerebral vasoconstriction in the absence of a well-recognized secondary cause. PACNS included reports of histologically confirmed PACNS either through biopsy or necropsy. Reversible Cerebral Vasoconstriction Syndrome occurs primarily in females and is characterized by sudden, severe headache at onset, normal CSF analysis, vasoconstriction involving the Circle of Willis and its immediate branches, and angiographic or TCD ultrasound evidence of near-to-complete vasospastic resolution within 1-4 weeks. It occurs typically in the context of vasoconstrictive drug use, the peripartum period, bathing, and physical exertion. Initial and follow-up (within 4 weeks) non-invasive angiographic studies are indicated in patients who present with TCH or who have clinical presentations that could be consistent with RCVS or PACNS in the absence of a well-recognized secondary cause, such as subarachnoid haemorrhage. Early reversibility of cerebral vasospasm is the key neuroradiological feature that supports the clinical

  15. [PRES (Posterior Reversible Encephalopathy Syndrome): potential complication of hypertensive crisis. Case report and literature review].

    PubMed

    Vergura, Michele; Prencipe, Michele; Del Giudice, Antonio Maria; Grifa, Rachele; Miscio, Filomena; Pennelli, Anna Maria; Popolizio, Teresa; Simeone, Anna; Ferrara, Mariangela; Leone, Maurizio; Aucella, Filippo

    2017-04-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiological syndrome, usually reversible, characterized by vasogenic oedema in cerebral posterior regions in patients with autoimmune diseases, nephropathies, hypertensive crisis, eclampsia and exposure to cytotoxic drugs. The main symptoms are: headache, nausea, vomiting, seizures, visual disturbance and altered consciousness. Complications as cerebral hemorrhage and recurrences are rare. We describe a case of a 65 years old woman, affected by chronic kidney disease, recently exacerbated, diabetes and hypertension in treatment, who showed an heterogeneous clinical presentation with vomiting, headache, blurred vision and impaired consciousness during an episode of acute hypertension. After an adjustement of the antihypertensive treatment we observed a regression of symptoms in one week. FLAIR sequences on MRI showed cerebral bilateral vasogenic oedema in posterior regions, typical for PRES. This case was suggestive for PRES and a prompt adjustement of the antihypertensive treatment was critical for clinical recovery. Brain MRI was crucial for diagnosis. It is important for clinicians to recognize PRES as a possible complication of renal disease and hypertensive crisis. Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.

  16. Recurrent posterior reversible encephalopathy syndrome in a pediatric patient with end-stage renal disease.

    PubMed

    Daniel, Nicholas J; Hernandez, Cynthia L; Walker, Richard A

    2014-02-01

    Posterior reversible encephalopathy syndrome (PRES) is a condition manifested by altered mental status, seizures, headaches, and visual loss. Specific abnormalities are seen by computed tomography or magnetic resonance imaging. Awareness of this syndrome is important for Emergency Physicians because visual loss can be reversible with prompt treatment of the underlying cause. We present a case of recurrent PRES in a 14-year-old female who presented to the Emergency Department (ED) for headache and photosensitivity. A patient with a history of end-stage renal disease of unknown etiology was brought in by her mother for headache and photosensitivity. The patient developed blurry vision, seized in the ED, and required intubation. She was discharged 2 weeks later with complete return of vision. The same patient presented to the ED many times during the next several months for hypertensive emergencies, with three subsequent episodes that involved either seizures, vision loss, or both. Each of the episodes resolved with aggressive control of blood pressure in the pediatric intensive care unit. PRES should be considered in all patients presenting to the ED with visual loss, seizures, or headache, and can be recurrent in some individuals. Prompt treatment can help prevent permanent vision loss. Copyright © 2014 Elsevier Inc. All rights reserved.

  17. Evidence for "Uner Tan Syndrome" as a human model for reverse evolution.

    PubMed

    Tan, Uner

    2006-12-01

    "Uner Tan Syndrome" was further studied in a second family. There was no cerebellar atrophy, except a mild vermial atrophy in MRI scans of the affected individuals. This is not, however, the pathogenesis of the "Uner Tan Syndrome", since in the first and second families there were bipedal men exhibiting very similar MRI scans. The second family may also be considered a live model for reverse evolution in human beings. The present work provided evidence for a reverse evolution: (i) quadrupedality; (ii) primitive mental abilities including language; (iii) curved fingers during wrist-walking of the quadrupedal woman; (iv) arm to leg ratios being close to those of the human-like apes. The quadrupedal individuals were raised in separate places, so that they could not imitate each other, excluding the socio-cultural factors contributing to the habitual quadrupedal gait. The results are consistent with the single gene theory, suggesting a single gene controlling multiple behavioral traits, and the psychomotor theory, and a co-evolution of the human mind, an emergent property of the motor system expressed by human language.

  18. Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome.

    PubMed

    Robinson, Lianne; Guy, Jacky; McKay, Leanne; Brockett, Emma; Spike, Rosemary C; Selfridge, Jim; De Sousa, Dina; Merusi, Cara; Riedel, Gernot; Bird, Adrian; Cobb, Stuart R

    2012-09-01

    Rett syndrome is a neurological disorder caused by mutation of the X-linked MECP2 gene. Mice lacking functional Mecp2 display a spectrum of Rett syndrome-like signs, including disturbances in motor function and abnormal patterns of breathing, accompanied by structural defects in central motor areas and the brainstem. Although routinely classified as a neurodevelopmental disorder, many aspects of the mouse phenotype can be effectively reversed by activation of a quiescent Mecp2 gene in adults. This suggests that absence of Mecp2 during brain development does not irreversibly compromise brain function. It is conceivable, however, that deep-seated neurological defects persist in mice rescued by late activation of Mecp2. To test this possibility, we have quantitatively analysed structural and functional plasticity of the rescued adult male mouse brain. Activation of Mecp2 in ∼70% of neurons reversed many morphological defects in the motor cortex, including neuronal size and dendritic complexity. Restoration of Mecp2 expression was also accompanied by a significant improvement in respiratory and sensory-motor functions, including breathing pattern, grip strength, balance beam and rotarod performance. Our findings sustain the view that MeCP2 does not play a pivotal role in brain development, but may instead be required to maintain full neurological function once development is complete.

  19. Posterior reversible encephalopathy syndrome--Insight into pathogenesis, clinical variants and treatment approaches.

    PubMed

    Granata, Guido; Greco, Antonio; Iannella, Giannicola; Granata, Massimo; Manno, Alessandra; Savastano, Ersilia; Magliulo, Giuseppe

    2015-09-01

    Posterior reversible encephalopathy syndrome is a rare clinicoradiological entity characterized by typical MRI findings located in the occipital and parietal lobes, caused by subcortical vasogenic edema. It was first described as a distinctive syndrome by Hinchey in 1996. Etiopathogenesis is not clear, although it is known that it is an endotheliopathy of the posterior cerebral vasculature leading to failed cerebral autoregulation, posterior edema and encephalopathy. A possible pathological activation of the immune system has been recently hypothesized in its pathogenesis. At clinical onset, the most common manifestations are seizures, headache and visual changes. Besides, tinnitus and acute vertigo have been frequently reported. Symptoms can be reversible but cerebral hemorrhage or ischemia may occur. Diagnosis is based on magnetic resonance imaging, in the presence of acute development of clinical neurologic symptoms and signs and arterial hypertension and/or toxic associated conditions with possible endotheliotoxic effects. Mainstay on the treatment is removal of the underlying cause. Further investigation and developments in endothelial cell function and in neuroimaging of cerebral blood flow are needed and will help to increase our understanding of pathophysiology, possibly suggesting novel therapies.

  20. A pediatric case of reversible cerebral vasoconstriction syndrome with cortical subarachnoid hemorrhage.

    PubMed

    Yoshioka, Seiichiro; Takano, Tomoyuki; Ryujin, Fukiko; Takeuchi, Yoshihiro

    2012-10-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a rare disorder characterized by acute onset, severe headache, with reversible vasoconstriction of cerebral arteries often accompanied by additional neurological symptoms. This syndrome is seen mainly in middle-aged adults, predominantly women. Herein, we report on a pediatric case of RCVS with cortical subarachnoid hemorrhage (SAH). A 12-year-old boy developed acute, severe headache with paralysis of lower extremities causing gait disturbance after administration of eletriptan. Brain magnetic resonance angiography (MRA) revealed multifocal narrowing of the cerebral arteries, whereas magnetic resonance imaging (MRI) demonstrated sulcal hyperintensity on fluid-attenuated inversion recovery, consistent with cortical SAH. The patient's clinical symptoms resolved spontaneously after a few days and the MRI and MRA findings disappeared 3 months later, suggesting a diagnosis of RCVS. Eletriptan might cause vasoconstriction of cerebral arteries. Although most patients with RCVS are adults and pediatric cases are rare, RCVS should be considered in a child complaining of severe headache. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  1. A novel approach to diagnose reversible cerebral vasoconstriction syndrome: a case series.

    PubMed

    Kass-Hout, Tareq; Kass-Hout, Omar; Sun, Chung-Huan J; Kass-Hout, Taha; Ramakrishnan, Pankajavalli; Nahab, Fadi; Nogueira, Raul; Gupta, Rishi

    2015-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is classically diagnosed based on the presence of severe thunderclap headache, focal neurologic symptoms, and the radiographic findings of reversible diffuse segmental cerebral vasoconstriction. We present a diagnostic test that may assist in the clinical diagnosis and facilitate treatment. From October 1, 2010, to August 1, 2013, we identified consecutive patients who presented with a presumptive diagnosis of RCVS and underwent cerebral diagnostic angiography with intra-arterial (IA) vasodilator therapy. Medical records including clinical presentation, radiographic, and angiographic images were all reviewed. We identified a total of 7 patients (4 females; age range, 22-56; mean, 45 years) who met our inclusion criteria. Four patients received a combination of milrinone and nicardipine infusion either in the internal carotid arteries or in the left vertebral artery; the remaining patients received IA therapy solely with either nicardipine or milrinone. Five patients had a positive angiographic response, defined as significant improvement or resolution of the blood vessels irregularities. All 5 patients had a definite discharge diagnosis of RCVS. The remaining 2 patients had a negative angiographic response and based on their clinical and radiographic course had a final diagnosis of intracranial atherosclerotic disease. Our small case series suggest that IA administration of vasodilators is safe and may aid in distinguishing vasodilator responsive syndromes such as RCVS from other causes. Further study is required with long-term clinical outcome to determine the utility of this diagnostic test. Copyright © 2015. Published by Elsevier Inc.

  2. Various Imaging Manifestations of Posterior Reversible Encephalopathy Syndrome (PRES) on Magnetic Resonance Imaging (MRI)

    PubMed Central

    Raman, Rajesh; Devaramane, Radhika; Jagadish, Geetha Mukunda; Chowdaiah, Sanjana

    2017-01-01

    Summary Background Posterior reversible encephalopathy syndrome (PRES), also called the acute hypertensive encephalopathy and reversible posterior leukoencephalopathy syndrome (RPLS), is a neurotoxic syndrome of cerebral vasoregulation classically characterized by bilaterally symmetrical parieto-occipital edema. However, the imaging findings are variable and may occur in other locations such as the frontal lobes, thalami, basal ganglia and brainstem. Most commonly, PRES presents with hyperintense signals on T2 and FLAIR sequences. Restricted diffusion and hemorrhage are rare. This study presents the typical and atypical manifestations of PRES on 3T MR images. Material/Methods It is a retrospective study analyzing a radiology report database and MR images of 92 patients with a clinical and radiological diagnosis of PRES. The brain MRI images of these patients were evaluated. The regions involved and the signal intensity of the affected areas on T1, T2, FLAIR and DW sequences were recorded. The location of the abnormal signal intensity as well as the presence or absence of atypical features such as diffusion restriction and hemorrhage were also recorded. Results The most commonly affected region was the parieto-occipital lobes (100%), however, other atypical regions involved were the frontal lobes (30.4%), temporal lobes (8.69%), basal ganglia (22%), cerebellum(17.39%), brainstem(9%) and thalamus(4%). Some of the cases showed restricted diffusion (43%) and hemorrhage (9%). Conclusions The involvement of the parieto-occipital, frontal and temporal lobes is common in PRES. Occasionally, there may be an involvement of the basal ganglia, cerebellum and brainstem, with or without hemorrhage and restricted diffusion. Radiologists should be aware of the typical and atypical imaging manifestations of PRES in order to make an accurate diagnosis. PMID:28243339

  3. Reversible cerebral vasoconstriction syndrome and cervical artery dissection in 20 patients.

    PubMed

    Mawet, Jérôme; Boukobza, Monique; Franc, Julie; Sarov, Mariana; Arnold, Marcel; Bousser, Marie-Germaine; Ducros, Anne

    2013-08-27

    To describe clinical-radiologic characteristics in a prospective series of patients having both confirmed reversible cerebral vasoconstriction syndrome (RCVS) and cervical artery dissection (CeAD). From January 2004 to December 2011, from our prospective cohorts of RCVS and CeAD, we studied patients with both conditions. Of 173 RCVS cases and 285 CeAD cases, 20 patients (18 women, 2 men; mean age 41 years) had both RCVS and CeAD. Main associated conditions were migraine (12/20) and postpartum (5/18). Clinical features included severe headache in all patients, neck pain in 15, focal neurologic deficit in 9, and seizures in 4. Pain was the only symptom in 10 patients. All patients had multifocal cerebral vasoconstriction. There were brain lesions in 12 patients, cortical subarachnoid hemorrhage in 11, posterior reversible encephalopathy syndrome in 4, intracerebral hemorrhage in 3, and infarcts in 4. CeAD involved one artery in 13 patients and multiple arteries in 7. CeAD mostly affected vertebral arteries (25 of 30 CeAD). Only one vertebral CeAD was associated with a related symptomatic infarct. At 3 months, 18 patients had fully recovered, all patients showed reversal of cerebral vasoconstriction, and 21 dissected arteries had normalized, whereas 9 arteries showed residual stenosis (7) and/or aneurysm (3). The association of RCVS and CeAD was found in 12% of our patients with RCVS and 7% of our patients with CeAD. Underlying mechanisms are unknown. In practice, our results point to the need for a systematic study of both cervical and intracranial arteries in the 2 conditions.

  4. [Reversible cerebral vasoconstriction syndrome: A rare pediatric cause of thunderclap headaches].

    PubMed

    Trolliet, M; Sevely, A; Albucher, J-F; Nasr, N; Hachon Lecamus, C; Deiva, K; Cheuret, E

    2016-12-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by thunderclap headaches with diffuse segmental constriction of cerebral arteries that resolves spontaneously within 3 months. We report on a case of a 13-year-old boy presenting with acute severe headaches, triggered by physical exertion. His past medical history was uneventful. Moderate headache persisted between exacerbations for 4 weeks. He secondarily presented with signs of intracranial hypertension. Brain magnetic resonance angiography (MRA) revealed multifocal narrowing of the cerebral arteries. A glucocorticoid treatment was started based on the hypothesis of primary angiitis of the CNS. The symptoms rapidly improved, and repeat angiography at 3 months showed no vasoconstriction. Although pediatric cases are rare, RCVS should be considered in a child complaining of severe headache, especially after the use of vasoactive drugs or after Valsalva manoeuvres. RCVS is attributed to a transient, reversible dysregulation of cerebral vascular tone, which leads to multifocal arterial constriction and dilation. Physical examination, laboratory values, and initial cranial computed tomography are unremarkable, except when RCVS is associated with complications. Thunderclap headaches tend to resolve and then recur over a 1- to 4-week period, often with a milder baseline headache persisting between acute exacerbations. Angiography shows segmental narrowing and dilatation of one or more arteries, like a string of beads. Despite the absence of a proven treatment, important steps should be taken during the acute phase: removal of precipitants such as vasoactive substances, giving the patient rest, lowering blood pressure, and controlling seizures. Drugs targeted at vasospasms, such as calcium channel inhibitors, can be considered when cerebral vasoconstriction has been assessed. In most patients, the RCVS symptoms resolve spontaneously within days or weeks. Ischemic and hemorrhagic stroke are the major

  5. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

    PubMed Central

    Marrone, Anna; Walne, Amanda; Tamary, Hannah; Masunari, Yuka; Kirwan, Michael; Beswick, Richard; Vulliamy, Tom; Dokal, Inderjeet

    2010-01-01

    Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and an increased predisposition to malignancy. X-linked DC is due to mutations in DKC1, while heterozygous mutations in TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) have been found in autosomal dominant DC. Many patients with DC remain uncharacterized, particularly families displaying autosomal recessive (AR) inheritance. We have now identified novel homozygous TERT mutations in 2 unrelated consanguineous families, where the index cases presented with classical DC or the more severe variant, Hoyeraal-Hreidarsson (HH) syndrome. These TERT mutations resulted in reduced telomerase activity and extremely short telomeres. As these mutations are homozygous, these patients are predicted to have significantly reduced telomerase activity in vivo. Interestingly, in contrast to patients with heterozygous TERT mutations or hemizygous DKC1 mutations, these 2 homozygous TERT patients were observed to have higher-than-expected TERC levels compared with controls. Collectively, the findings from this study demonstrate that homozygous TERT mutations, resulting in a pure but severe telomerase deficiency, produce a phenotype of classical AR-DC and its severe variant, the HH syndrome. PMID:17785587

  6. Posterior reversible encephalopathy syndrome (PRES) with immune system activation, VEGF up-regulation, and cerebral amyloid angiopathy.

    PubMed

    Kofler, Julia; Bartynski, Walter S; Reynolds, Thomas Q; Lieberman, Frank S; Murdoch, Geoffrey H; Hamilton, Ronald L

    2011-01-01

    The case of a 75-year-old man with a history of lymphoma, recent upper respiratory tract infection, and a protracted course of encephalopathy is presented. Radiologically, findings were consistent with posterior reversible encephalopathy syndrome. A brain biopsy revealed evidence of endothelial activation, T-cell trafficking, and vascular endothelial growth factor expression, suggesting that systemic immune system activation may be involved with triggering posterior reversible encephalopathy syndrome. In addition, underlying cerebral amyloid angiopathy may have contributed to the initial nonclassical edema distribution by compromising autoregulatory blood flow mechanisms.

  7. Reversible posterior leukoencephalopathy syndrome in a patient with multiple system atrophy: a possible association with oral midodrine treatment.

    PubMed

    Kim, Joong-Seok; Lee, Kwang-Soo; Lim, Sung-Chul; Ahn, Jae-Young; Song, In-Uk; Kim, Yeong-In; Kim, Bum-Soo; Kim, Hee-Tae

    2007-05-15

    We describe a 51-year-old man with a 3-year history of multiple system atrophy, who developed a reversible posterior leukoencephalopathy syndrome (RPLS) after receiving prescription midodrine for therapeutic treatment of orthostatic hypotension. Typical reversible magnetic resonance imaging findings, following treatment with midodrine, suggested a possible relationship between midodrine treatment, supine hypertension, and RPLS, although a cause-and-effect relationship cannot be confirmed. (c) 2007 Movement Disorder Society.

  8. A common cause of sudden and thunderclap headaches: reversible cerebral vasoconstriction syndrome.

    PubMed

    Cheng, Yu-Chen; Kuo, Kuei-Hong; Lai, Tzu-Hsien

    2014-03-01

    Thunderclap headache (TCH) is a sudden headache (SH) with accepted criteria of severe intensity and onset to peak within one minute. It is a well-known presentation for subarachnoid hemorrhage (SAH) but most patients with TCH or SH run a benign course without identifiable causes. Reversible cerebral vasoconstriction syndrome (RCVS), a recently recognized syndrome characterized by recurrent TCH attacks, has been proposed to account for most of these patients. We recruited consecutive patients presenting with SH at our headache clinic. Computed tomography and/or magnetic resonance imaging with angiography were performed to exclude structural causes and to identify vasoconstriction. Catheter angiography and lumbar puncture were performed with patients consent. Reversibility of vasoconstriction was confirmed by follow-up study. From July 2010 to June 2013, 31 patients with SH were recruited. Twenty-four (72.7%) of these SH patients exhibited headache fulfilling the TCH criteria. The diagnosis of RCVS was confirmed in 14 (45.2%) of patients with SH and 11 (45.8%) of patients with TCH. Other diagnoses were as follows: primary headaches (SH: 41.9%, TCH: 45.8%) and other secondary causes (SH: 12.9%, TCH: 8.3%). Compared with non-RCVS patients, patients with RCVS were older (50.8 ± 9.3 years vs. 40.8 ± 10.0 years, P = 0.006) and less likely to experience short headache duration of < 1 hour (23.1% vs. 78.6%, P = 0.007). Patients with RCVS were more likely to cite bathing (42.9% vs. 0%, P = 0.004) and less likely to cite exertion (0% vs. 29.4%, P = 0.048) as headache triggers. Reversible cerebral vasoconstriction syndrome is a common cause of SH and TCH. Considering the potential mortality and morbidity of RCVS, systemic examination of cerebral vessels should be performed in these patients.

  9. A common cause of sudden and thunderclap headaches: reversible cerebral vasoconstriction syndrome

    PubMed Central

    2014-01-01

    Background Thunderclap headache (TCH) is a sudden headache (SH) with accepted criteria of severe intensity and onset to peak within one minute. It is a well-known presentation for subarachnoid hemorrhage (SAH) but most patients with TCH or SH run a benign course without identifiable causes. Reversible cerebral vasoconstriction syndrome (RCVS), a recently recognized syndrome characterized by recurrent TCH attacks, has been proposed to account for most of these patients. Methods We recruited consecutive patients presenting with SH at our headache clinic. Computed tomography and/or magnetic resonance imaging with angiography were performed to exclude structural causes and to identify vasoconstriction. Catheter angiography and lumbar puncture were performed with patients consent. Reversibility of vasoconstriction was confirmed by follow-up study. Results From July 2010 to June 2013, 31 patients with SH were recruited. Twenty-four (72.7%) of these SH patients exhibited headache fulfilling the TCH criteria. The diagnosis of RCVS was confirmed in 14 (45.2%) of patients with SH and 11 (45.8%) of patients with TCH. Other diagnoses were as follows: primary headaches (SH: 41.9%, TCH: 45.8%) and other secondary causes (SH: 12.9%, TCH: 8.3%). Compared with non-RCVS patients, patients with RCVS were older (50.8 ± 9.3 years vs. 40.8 ± 10.0 years, P = 0.006) and less likely to experience short headache duration of < 1 hour (23.1% vs. 78.6%, P = 0.007). Patients with RCVS were more likely to cite bathing (42.9% vs. 0%, P = 0.004) and less likely to cite exertion (0% vs. 29.4%, P = 0.048) as headache triggers. Conclusions Reversible cerebral vasoconstriction syndrome is a common cause of SH and TCH. Considering the potential mortality and morbidity of RCVS, systemic examination of cerebral vessels should be performed in these patients. PMID:24580731

  10. Korsakoff syndrome from retrochiasmatic suprasellar lesions: rapid reversal after relief of cerebral compression in 4 cases.

    PubMed

    Savastano, Luis E; Hollon, Todd C; Barkan, Ariel L; Sullivan, Stephen E

    2017-06-02

    Korsakoff syndrome is a chronic memory disorder caused by a severe deficiency of thiamine that is most commonly observed in alcoholics. However, some have proposed that focal structural lesions disrupting memory circuits-in particular, the mammillary bodies, the mammillothalamic tract, and the anterior thalamus-can give rise to this amnestic syndrome. Here, the authors present 4 patients with reversible Korsakoff syndromes caused by suprasellar retrochiasmatic lesions compressing the mammillary bodies and adjacent caudal hypothalamic structures. Three of the patients were found to have large pituitary macroadenomas in their workup for memory deficiency and cognitive decline with minimal visual symptoms. These tumors extended superiorly into the suprasellar region in a retrochiasmatic position and caused significant mass effect in the bilateral mammillary bodies in the base of the brain. These 3 patients had complete and rapid resolution of amnestic problems shortly after initiation of treatment, consisting of resection in 1 case of nonfunctioning pituitary adenoma or cabergoline therapy in 2 cases of prolactinoma. The fourth patient presented with bizarre and hostile behavior along with significant memory deficits and was found to have a large cystic craniopharyngioma filling the third ventricle and compressing the midline diencephalic structures. This patient underwent cyst fenestration and tumor debulking, with a rapid improvement in his mental status. The rapid and dramatic memory improvement observed in all of these cases is probably due to a reduction in the pressure imposed by the lesions on structures contiguous to the third ventricle, rather than a direct destructive effect of the tumor, and highlights the essential role of the caudal diencephalic structures-mainly the mammillary bodies-in memory function. In summary, large pituitary lesions with suprasellar retrochiasmatic extension and third ventricular craniopharyngiomas can cause severe Korsakoff

  11. Reversible cerebral vasoconstriction syndrome following red blood cells transfusion: a case series of 7 patients.

    PubMed

    Liang, Hui; Xu, Ziqi; Zheng, Zhijun; Lou, Haiyan; Yue, Wei

    2015-04-22

    Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent disease characterized by severe headaches with or without focal neurological deficits or seizures and a reversible vasoconstriction of cerebral arteries. The Orpha number for RCVS is ORPHA284388. However, RCVS triggered by blood transfusion is rare. Here we provided the clinical, neuroimaging and outcome data of patients diagnosed with RCVS resulting from red blood cells transfusion. We retrospectively identified 7 patients presenting with RCVS after red blood cells transfusion from January 2010 to May 2014. The information on clinical features, neuroimaging and outcome were collected and analyzed. All 7 patients were Chinese women, with a mean age of 42 years (38-46). All the patients had severe anemia (Hb level < 6 g/dl) caused by primary menorrhagia due to uterine myoma (n = 5) or end-stage renal disease (n = 2) and severe anemia persisted for a average period of 4 months (2-6). Each patient received packed red blood cells transfusion (average: 1580 ml) over a period of 2-5 days. Blood transfusion increased the hemoglobin level by at least 4.5 g/dL from baseline. The neurological symptoms appeared a mean of 6.3 days (2-13) after the last blood transfusion. Headache was the most frequent symptom and seizure, transient or persistent neurological disorders were observed. Neuroimaging showed cortical subarachnoid hemorrhage (n = 2), focal intracerebral hemorrhage (n = 2), localized brain edema (n = 3), cerebral infarction (n = 1), and posterior reversible encephalopathy syndrome (n = 2). Cerebral vasoconstrictions were demonstrated by magnetic resonance angiography or cerebral angiography. Arterial constriction reversed in all patients within 1 to 3 months of follow-up after disease onset and no relapse was observed up to a mean of 17.1 ± 4.8 months of follow-up. RCVS is a rare complication as a result of blood transfusion in patients with chronic

  12. Electrodiagnosis of reversible conduction failure in Guillain-Barré syndrome.

    PubMed

    Chan, Yee-Cheun; Punzalan-Sotelo, Aubrey M; Kannan, Therimadasamy A; Shahrizaila, Nortina; Umapathi, Thirugnanam; Goh, Eunice J H; Fukami, Yuki; Wilder-Smith, Einar; Yuki, Nobuhiro

    2017-01-17

    In this study we propose electrodiagnostic criteria for early reversible conduction failure (ERCF) in axonal Guillain-Barré syndrome (GBS) and apply them to a cohort of GBS patients. Serial nerve conduction studies (NCS) were retrospectively analyzed in 82 GBS patients from 3 centers. The criteria for the presence of ERCF in a nerve were: (i) a 50% increase in amplitude of distal compound muscle action potentials or sensory nerve action potentials; or (ii) resolution of proximal motor conduction block with an accompanying decrease in distal latencies or compound muscle action potential duration or increase in conduction velocities. Of 82 patients from 3 centers, 37 (45%) had ERCF, 21 (26%) had a contrasting evolution pattern, and 8 (10%) had both. Sixteen patients did not show an amplitude increase of at least 50%. Our proposed criteria identified a group of patients with a characteristic evolution of NCS abnormality that is consistent with ERCF. Muscle Nerve, 2017. © 2017 Wiley Periodicals, Inc.

  13. Reversible Cerebral Vasoconstriction Syndrome With Involvement of External Carotid Artery Branches

    PubMed Central

    Shaik, S.; Chhetri, S. K.; Roberts, G.; Wuppalapati, S.

    2014-01-01

    A 44-year-old woman presented with recurrent episodes of thunderclap headache. Neurological examination and computed tomography brain imaging were unremarkable. Cerebrospinal fluid findings were consistent with subarachnoid hemorrhage. Computed tomography angiography of the circle of Willis showed multiple areas of segmental vasoconstriction. This finding was confirmed on cerebral catheter angiography, with segmental vasoconstriction involving bilateral internal carotid, posterior cerebral, and external carotid branches. No aneurysm or other vascular abnormality was identified. She received treatment with nimodipine. A selective serotonin reuptake inhibitor, started 4 weeks earlier, was discontinued. Follow-up angiography after 3 months demonstrated complete resolution of the segmental vasoconstriction, confirming the diagnosis of reversible cerebral vasoconstriction syndrome (RCVS). She remained headache free at follow-up. To our knowledge, external carotid artery branch involvement in RCVS has been described only in one previous occasion. PMID:24982719

  14. Hypertensive posterior reversible encephalopathy syndrome causing posterior fossa edema and hydrocephalus.

    PubMed

    Grossbach, Andrew J; Abel, Taylor J; Hodis, Brendan; Wassef, Shafik N; Greenlee, Jeremy D W

    2014-02-01

    Posterior reversible encephalopathy syndrome (PRES) is a well characterized entity resulting from the inability of cerebral autoregulation to adequately protect the brain from uncontrolled hypertension. It primarily affects the occipital lobes, but can also involve the structures in the posterior fossa including the brainstem and cerebellum. Treatment usually consists of strict blood pressure control, but more aggressive management may be indicated with acutely worsening neurological status. We present a patient with hypertensive encephalopathy that resulted in hydrocephalus and brainstem compression necessitating surgical decompression requiring ventriculostomy and suboccipital craniectomy. In rare cases, PRES can present with severe brainstem compression requiring emergent posterior fossa decompression. When brainstem signs are present on exam, emergent posterior fossa decompression may be safer than ventriculostomy alone. Copyright © 2013 Elsevier Ltd. All rights reserved.

  15. Reverse Shapiro's syndrome--an unusual cause of fever of unknown origin.

    PubMed

    Lin, Kuang-Lin; Wang, Huei-Shyong

    2005-09-01

    Reverse Shapiro's syndrome was first described by Hirayama et al. in a girl with periodic hyperthermia associated with complete agenesis of the corpus callosum. Here we report another such case in a 9-month-old girl presenting with fever of unknown origin since the age of 7 months. On examination, she had mild hypotonia with delayed developmental milestones. No other neurological or physical abnormalities were noted. The cause of her prolonged fever of unknown origin was investigated and all results were negative. Her brain magnetic resonance images showed agenesis of the corpus callosum. On the basis of the previous literature, we suggest that the periodic hyperthermia of this girl was caused by dopaminergic denervation of the hypothalamic thermoregulatory center. Treatment with dopamine agonists (levodopa plus carbidopa) failed to control the hyperthermia.

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

    PubMed

    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.

  17. The reversible cerebral vasoconstriction syndrome in association with venlafaxine and methenamine

    PubMed Central

    Davies, G; Wilson, H; Wilhelm, T; Bowler, J

    2013-01-01

    The reversible cerebral vasoconstriction syndrome (RCVS) is characterised by thunderclap headache and multifocal vasoconstriction of cerebral arteries on angiography. It is often drug induced, but it can occur postpartum, and as a result of a number of other precipitants. To make the diagnosis, it is necessary to exclude other causes of severe headache (such as aneurysmal subarachnoid haemorrhage, carotid dissection and primary angiitis of the central nervous system). However, it is also important to show that the vasoconstriction has resolved with repeat angiography at the 3-month stage. Here we report two cases of RCVS in association with venlafaxine and the urinary antiseptic, methenamine. Serotonin–norepinephrine reuptake inhibitors have recently been reported as a possible precipitant, but this is the first report to implicate methenamine. Although RCVS is relatively uncommon, it should be considered in the differential of those presenting with thunderclap headache. PMID:23771970

  18. Reversible cerebral vasoconstriction syndrome in a patient with systemic lupus erythematosus.

    PubMed

    Ashraf, V V; Bhasi, Ramesh; Ramakrishnan, K G; Praveenkumar, R; Girija, A S

    2012-01-01

    A 42-year-old woman, a diagnosed case of systemic lupus erythematosus (SLE), developed severe headache followed by left hemiparesis and cortical blindness. Magnetic resonance imaging (MRI) of brain demonstrated right parieto-occipital infarct and the patient was initiated on high-dose steroids and antiplatelet agents with which the patient had clinical and radiological deterioration. Magnetic Resonance angiography showed severe narrowing of bilateral anterior, middle, and posterior cerebral arteries (PCA) suggestive of reversible cerebral vasoconstriction syndrome (RCVS). Patient was treated with IV nimodipine and she recovered over a period of 2 weeks. Repeat MR-angiography done on day-30 was normal. The diagnosis of RCVS in patients with SLE is of practical importance, because treatment and prognosis for SLE-associated cerebral vasculitis differ strongly from the treatment of RCVS. Empirical high-dose glucocorticoid therapy should be avoided in patients with typical features of RCVS.

  19. The reversible cerebral vasoconstriction syndrome in association with venlafaxine and methenamine.

    PubMed

    Davies, G; Wilson, H; Wilhelm, T; Bowler, J

    2013-06-13

    The reversible cerebral vasoconstriction syndrome (RCVS) is characterised by thunderclap headache and multifocal vasoconstriction of cerebral arteries on angiography. It is often drug induced, but it can occur postpartum, and as a result of a number of other precipitants. To make the diagnosis, it is necessary to exclude other causes of severe headache (such as aneurysmal subarachnoid haemorrhage, carotid dissection and primary angiitis of the central nervous system). However, it is also important to show that the vasoconstriction has resolved with repeat angiography at the 3-month stage. Here we report two cases of RCVS in association with venlafaxine and the urinary antiseptic, methenamine. Serotonin-norepinephrine reuptake inhibitors have recently been reported as a possible precipitant, but this is the first report to implicate methenamine. Although RCVS is relatively uncommon, it should be considered in the differential of those presenting with thunderclap headache.

  20. Reversible cerebral vasoconstriction syndrome with multivessel cervical artery dissections and a double aortic arch.

    PubMed

    Nouh, Amre; Ruland, Sean; Schneck, Michael J; Pasquale, David; Biller, José

    2014-02-01

    Reversible cerebral vasoconstriction syndrome (RCVS) has been associated with exposure to vasoactive substances and few reports with cervical arterial dissections (CADs). We evaluated a 32-year-old woman with history of depression, migraines without aura, and cannabis use who presented with a thunderclap headache unresponsive to triptans. She was found to have bilateral occipital infarcts, bilateral extracranial vertebral artery dissections, bilateral internal carotid artery dissecting aneurysms, and extensive distal multifocal segmental narrowing of the anterior and posterior intracranial circulation with a "sausage on a string-like appearance" suggestive of RCVS. Subsequently, she was found to have a distal thrombus of the basilar artery, was anticoagulated, and discharged home with no residual deficits. We highlight the potential association of CADs and RCVS. The association of RCVS and a double aortic arch has not been previously reported. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  1. [A clinical analysis of reninoma-induced hypertensive crisis associated with reversible posterior encephalopathy syndrome].

    PubMed

    Wu, Hong-hua; Wang, Guang-ya; Ma, Xiao-wei; Guo, Xiao-hui

    2012-01-01

    Reninoma is a rare benign tumor of the renal juxtaglomerular cell apparatus that causes hypertension and hypokalemia via hypersecretion of renin, while it is extremely rare that reninoma induced hypertensive crisis with reversible posterior encephalopathy syndrome (RPES). To improve the clinical understanding for this disease, we conducted a case-analysis. To analyze the clinical and pathological data of a case of reninoma-induced hypertensive crisis with reversible posterior encephalopathy syndrome, who was admitted to Peking University First Hospital in November, 2007 and follow-up. This was a 16-year old female patient, onset with suddenly spasm with loss of consciousness, while blood pressure stepped up to 210/140 mm Hg (1 mm Hg = 0.133 kPa), and the head magnetic resonance imaging (MRI) revealed "multiple long-T(2) signal", and hypokalemia (2.8 - 3.2 mmol/L), urine protein positive, ultrasound cardiogram revealed left ventricular hypertrophy, laboratory study revealed hyperreninism (38.23 ng·ml(-1)×h(-1), normal range 0.07 - 1.15 ng·ml(-1)×h(-1)) and hyperaldosteronism (660.9 ng/L, normal range 60 - 174 ng/L), abdominal CT-Scan revealed a mass at right kidney, blood pressure achieved safety range and the head MRI was rechecked and revealed "the abnormal long-T(2) signal disappeared". The clinical diagnosis was reninoma induced hypertensive crisis with RPES. The tumor was resected and the pathologic diagnosis was reninoma. The patient remained normotensive in the postoperative period without any medication. Reninoma represents a rare but surgically curable cause of hypertension, thus the clinical suspicion of it is very important in young patients. If the diagnosis is confirmed, positive treatment must be done immediately to improve the prognosis. The most common cause of RPES is hypertension, and the diagnosis depends on the distinctive head MRI. There is always a good prognosis with the decline of blood pressure rapidly.

  2. Blood-brain barrier breakdown in reversible cerebral vasoconstriction syndrome: Implications for pathophysiology and diagnosis.

    PubMed

    Lee, Mi Ji; Cha, Jihoon; Choi, Hyun Ah; Woo, Sook-Young; Kim, Seonwoo; Wang, Shuu-Jiun; Chung, Chin-Sang

    2017-03-01

    Diagnosis of reversible cerebral vasoconstriction syndrome (RCVS) is currently based on luminographic findings of vasoconstriction. In addition to vasoconstriction, the blood-brain barrier (BBB) breakdown has been postulated as a central mechanism of RCVS. Our aim was to document BBB breakdown in patients with RCVS and its role for the pathophysiology-based diagnosis of RCVS. We prospectively recruited 72 consecutive patients with thunderclap headache who did not have aneurysmal subarachnoid hemorrhage from April 2015 to July 2016 at the Samsung Medical Center. Based on the International Classification of Headache Disorders-3 beta criteria and neuroimaging, patients were classified as having RCVS (n = 41; "definite" in 29 imaging-proven patients and "probable" in 12 imaging-negative patients), other secondary causes (n = 7), and thunderclap headache of undetermined cause (n = 24). BBB breakdown was evaluated using contrast-enhanced fluid-attenuated inversion recovery magnetic resonance imaging. BBB breakdown was documented in 20 (69.0%) patients with definite RCVS, 3 (25.0%) patients with probable RCVS, and none with other secondary causes. BBB breakdown was present in RCVS patients with (n = 4) and without (n = 19) concomitant posterior reversible encephalopathy syndrome. In patients with RCVS, the extent of BBB breakdown was independently associated with neurological complications (multivariate odds ratio = 1.48 per 1 territorial increase, 95% confidence interval = 1.04-2.12, adjusted p = 0.032). Three (12.5%) patients with thunderclap headache of undetermined cause were newly classified as having RCVS by the presence of BBB breakdown. This is the first study to show BBB breakdown in patients with RCVS. This finding might broaden our understanding of the pathophysiology and clinical spectrum of RCVS. Ann Neurol 2017;81:454-466. © 2017 American Neurological Association.

  3. Status Epilepticus and Blindness in a Patient with Carfilzomib-Associated Posterior Reversible Encephalopathy Syndrome

    PubMed Central

    Ebrahem, Rawaa; Cooper, Scott; Manlove, Emily; Lee, Ricky

    2017-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a neurological condition characterized by headaches, visual disturbances, and seizures. A magnetic resonance imaging (MRI) scan of an affected brain typically shows symmetrical white matter edema in the posterior cerebral hemispheres. The onset of PRES can constitute a medical emergency, especially when accompanied by status epilepticus. If promptly recognized and treated, the clinical syndrome and associated radiological findings are usually resolved in a matter of weeks or months. Carfilzomib is a proteasome inhibitor that is newly approved for relapsing myeloma in a patient who has received one or more lines of therapy. In this paper, we report on a 52-year-old female on carfilzomib for multiple myeloma who developed PRES following her second dose of treatment. She was admitted for chronic obstructive pulmonary disease (COPD) exacerbation, and while she was in the hospital, she developed a severe headache, blindness, and status epilepticus. A brain MRI showed signs consistent with PRES. After carfilzomib was discontinued, her symptoms resolved within three days. Unfortunately, the patient passed away shortly after being discharged, so there was no opportunity to perform a repeat MRI. PMID:28357173

  4. Dramatic Intracerebral Hemorrhagic Presentations of Reversible Cerebral Vasoconstriction Syndrome: Three Cases and a Literature Review

    PubMed Central

    Stary, Joel M.; Wang, Bonnie H.; Moon, Seong-Jin; Wang, Huan

    2014-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) refers to a number of disorders characterized by severe and sudden-onset (“thunderclap”) headaches and angiographic features of reversible, segmental, multifocal vasoconstriction of cerebral arteries. Although RCVS generally resolves without significant sequelae, a rare and possibly underrecognized hemorrhagic presentation has a worse potential course. We report three cases of hemorrhagic RCVS and review the literature. Three females (42, 54, and 33 years old, resp.) presented with severe headache, neurological deficits, and dramatic intracerebral hemorrhage (ICH). Patient 1 presented comatose with a 9 × 4 × 6.6 cm left deep intraparenchymal hemorrhage (IPH) and 1 cm midline shift. She underwent emergent surgical intervention. Patient 2 had a 3.3 × 1.5 cm left superior frontal IPH that enlarged to 4 × 2.5 cm within 12 hours with worsening headache and neurological deficits. She was successfully managed nonoperatively. Patient 3, after uncomplicated pregnancy and delivery, presented with a 1.5 cm left superior parietal IPH on postpartum day 7. Two days later, she acutely developed right hemiplegia. Repeat CT demonstrated a new 3.3 × 1.7 cm left frontal IPH. She was also successfully managed nonoperatively. Many diverse conditions are grouped within the category of RCVS. Dramatic ICH remains a rare and possibly underrecognized presenting feature. Prompt diagnosis and management are essential for obtaining the best outcome. PMID:24707417

  5. Reversible cerebral vasoconstriction syndrome with limb myoclonus following intravenous administration of methylergometrine.

    PubMed

    Ishibashi, Tomoko; Ishibashi, Satoru; Uchida, Tokujiro; Nakazawa, Koichi; Makita, Koshi

    2011-06-01

    Neurological deficits associated with methylergometrine have been reported primarily as a result of reversible cerebral vasoconstriction syndromes (RCVS). RCVS are characterized by reversible multifocal vasoconstrictions of the cerebral arteries heralded by acute severe headache with or without neurological deficits. Here, we present the first case of suspected RCVS with transient limb myoclonus following the intravenous administration of methylergometrine during cesarean section. A 31-year-old woman who received slowly infused intravenous methylergometrine during a cesarean section suddenly reported severe occipital headache after 40 min, followed by apnea and unconsciousness for 8 min. A second administration of methylergometrine to treat the weakness of her uterine contractions resulted in a repeated loss of consciousness within minutes and the development of limb myoclonus. No abnormalities were detected by brain computerized tomography, magnetic resonance imaging, and electroencephalogram. She fully recovered spontaneously within 12 h. We consider that the transient limb myoclonus in our patient appeared as a result of RCVS caused by the intravenous administration of methylergometrine.

  6. A School-Based Application of Modified Habit Reversal for Tourette Syndrome via a Translator: A Case Study

    ERIC Educational Resources Information Center

    Gilman, Rich; Connor, Nancy; Haney, Michelle

    2005-01-01

    A school-based modified habit reversal intervention was utilized with an adolescent diagnosed with Tourette syndrome who recently immigrated from Mexico. Because the student possessed little proficiency of the English language, an interpreter was needed to help implement the procedure. The frequency of motor tics markedly decreased from baseline…

  7. [Posterior reversible encephalopathy syndrome: Report of a fatal case and analysis of predictive factors of a poor prognosis].

    PubMed

    Torres, Moisés Ulises; Delgado, Ligia Victoria; Giraldo, Natalia; Urueña, Piedad; Franco, Sergio; Hernández, Olga Helena

    2017-04-01

    Posterior reversible encephalopathy syndrome is an illness with multiple causes and distinctive clinicalradiological characteristics that should be known by intensivists and emergency room physicians for a timely diagnosis and treatment. A fatal case of posterior reversible encephalopathy syndrome is presented, and the risk factors related to the outcome are identified.A 60-year-old man without a relevant medical history arrived at the emergency room presenting with depressed consciousness, seizures, and high blood pressure. Tomographic images revealed a posterior cerebellar hematoma. Resonance images showed ischemic zones, vasogenic edema from the thalamus to the brain stem, middle cerebellar peduncles, deep white matter of the cerebral hemispheres, and zones of hemorrhagic transformation. Despite medical-surgical management, the patient died. The risk factors described as the cause of the fatal outcome were identified. This case demonstrates that posterior reversible encephalopathy syndrome can occur without triggering risk factors and highlights the need for early recognition to establish an appropriate intervention to avoid injury or a fatal outcome. Cases of posterior reversible encephalopathy syndrome provide opportunities to investigate the susceptibility for the development of this condition and to establish appropriate preventive measures.

  8. A School-Based Application of Modified Habit Reversal for Tourette Syndrome via a Translator: A Case Study

    ERIC Educational Resources Information Center

    Gilman, Rich; Connor, Nancy; Haney, Michelle

    2005-01-01

    A school-based modified habit reversal intervention was utilized with an adolescent diagnosed with Tourette syndrome who recently immigrated from Mexico. Because the student possessed little proficiency of the English language, an interpreter was needed to help implement the procedure. The frequency of motor tics markedly decreased from baseline…

  9. Horizontal-plane arm movements with direction reversals performed by normal individuals and individuals with down syndrome.

    PubMed

    Almeida, G L; Corcos, D M; Hasan, Z

    2000-10-01

    We examined the systematic variation in shoulder and elbow torque, as well as movement kinematics, for horizontal-plane arm movements with direction reversals performed by normal individuals and individuals with Down syndrome. Eight neurologically normal individuals and eight individuals with Down syndrome performed horizontal, planar reversal movements to four different target locations. The four locations of the targets were chosen such that there is a systematic increase in elbow interaction torque for each of the four different target locations. This systematic increase in interaction torque has previously been shown to lead to progressively larger movement reversal errors, and trajectories that do not show a sharp reversal of direction, for movements to and from the target in patients who have proprioceptive abnormalities. We computed joint torques at the elbow and shoulder and found a high correlation between elbow and shoulder torque for the neurologically normal subjects. The ratio of joint torques varied systematically with target location. These findings extend previously reported findings of a linear synergy between shoulder and elbow joints for a variety of point-to-point movements. There was also a correlation between elbow and shoulder torque in individuals with Down syndrome, but the magnitude of the correlation was less. The ratio of joint torques changed systematically with target direction in individuals with Down syndrome but was slightly different from the ratio observed for neurologically normal individuals. The difference in the ratio was caused by the generation of proportionately more elbow torque than shoulder torque. The fingertip path of individuals with Down syndrome showed a sharp reversal in moving toward and then away from the target. In this respect, they were similar to neurologically normal individuals but dissimilar to individuals with proprioceptive deficits. Finally, we observed that individuals with Down syndrome spend

  10. The Comorbidity of Reduplicative Paramnesia, Intermetamorphosis, Reverse-Intermetamorphosis, Misidentification of Reflection, and Capgras Syndrome in an Adolescent Patient

    PubMed Central

    Arısoy, Ozden; Tufan, A. Evren; Taskiran, Sarper; Topal, Zehra; Demir, Nuran; Cansız, M. Akif

    2014-01-01

    Delusional misidentification syndromes may be superimposed on neurological or psychiatric disorders and include delusional beliefs that the people, objects, or places around the patient change or are made to change with one another. In this paper, an adolescent patient displaying Capgras syndrome, metamorphosis, reverse-intermetamorphosis, misidentification of reflection, and reduplicative paramnesia was presented. The findings that our patient struggled with visuospatial tests applied in the acute phase as well as the observation that she refused to meet her family face-to-face while accepting to speak on the phone may support the role of right hemisphere and visuospatial functions in the development of those syndromes. Further studies or case series evaluated more extensively are needed to reveal the relationship between right hemisphere functions and delusional misidentification syndromes. PMID:25328744

  11. Vessel wall MRI to differentiate between reversible cerebral vasoconstriction syndrome and central nervous system vasculitis: preliminary results.

    PubMed

    Mandell, Daniel M; Matouk, Charles C; Farb, Richard I; Krings, Timo; Agid, Ronit; terBrugge, Karel; Willinsky, Robert A; Swartz, Richard H; Silver, Frank L; Mikulis, David J

    2012-03-01

    Prospective differentiation between reversible cerebral vasoconstriction syndrome and central nervous system vasculitis can be challenging. We hypothesized that high-resolution vessel wall MRI would demonstrate arterial wall enhancement in central nervous system vasculitis but not in reversible cerebral vasoconstriction syndrome. We identified all patients with multifocal segmental narrowing of large intracranial arteries who had high-resolution vessel wall MRI and follow-up angiography at our institute over a 4-year period and performed a detailed chart review. Three patients lacked arterial wall enhancement, and these all had reversal of arterial narrowing within 3 months. Four patients demonstrated arterial wall enhancement, and these had persistent or progressive arterial narrowing at a median follow-up of 17 months (range, 6-36 months) with final diagnoses of central nervous system vasculitis (3) and cocaine vasculopathy (1). Preliminary results suggest that high-resolution contrast-enhanced vessel wall MRI may enable differentiation between reversible cerebral vasoconstriction syndrome and central nervous system vasculitis.

  12. Posterior reversible encephalopathy syndrome and systemic vasculitis: report of six cases.

    PubMed

    Lioger, Bertrand; Diot, Elisabeth; Ebbo, Michael; Schleinitz, Nicolas; Aaron, Laurent; Michot, Jean-Marie; Lambotte, Olivier; Dhote, Robin; De Boysson, Hubert; Ponce, Elodie; Maillot, François

    2016-01-01

    Our objective was to describe the characteristics of posterior reversible encephalopathy syndrome (PRES) associated with systemic vasculitis. A standardised questionnaire was used for a nationwide retrospective multicentre study in 2013 to collect clinical, radiological and outcome data about PRES associated with systemic vasculitis. We included six patients (all women; mean age 22.6±19.8 years (20-62)): two with polyarteritis nodosa and one case of each granulomatosis with polyangiitis, cryoglobulinaemic vasculitis, hypocomplementemic urticarial vasculitis, and Takayasu arteritis. PRES was the first manifestation of systemic vasculitis in three patients. Arterial hypertension was suspected to be the cause of PRES in five patients. Several other plausible causes including drugs, renal failure, and pneumonia were found in three patients. Clinical findings included headache, seizure, blurred or loss of vision, confusion, and altered cognition. Radiological study showed oedema in the occipital region in all patients, with a reversible state in MRIs performed one week to one month after the onset of PRES. Therapies used included antihypertensive therapy (n=5), immunosuppressive therapy (corticosteroids (n=5), cyclophosphamide (n=4), azathioprine (n=1), methotrexate (n=1), plasma exchange (n=1)), antibiotics (n=1), anticonvulsant therapy (n=2)), and analgesics. No relapse of PRES was reported during the follow-up period (mean: 47.5 ±29.9 months, 13-98); one patient continued to complain of vision loss. Our study indicates that PRES is a rare condition associated with systemic vasculitis; which may be present at the onset vasculitis symptoms. Antihypertensive drugs should be prescribed if blood pressure is elevated. The impact of immunosuppressive therapy remains unclear.

  13. Clinical Features and Outcomes of Patients with Posterior Reversible Encephalopathy Syndrome

    PubMed Central

    Kalaiselvan, M. S.; Renuka, M. K.; Arunkumar, A. S.

    2017-01-01

    Aims: The aim of this study was to study the clinical features and outcomes of patients with posterior reversible encephalopathy syndrome (PRES) admitted to the Intensive Care Unit (ICU). Subjects and Methods: All adult patients admitted to our ICU with acute onset neurologic symptoms with focal vasogenic edema on magnetic resonance imaging (MRI) were included in the study. Data were collected on demography, coexisting illness, admission severity of illness, neurological symptoms, blood pressure, treatment initiated, and MRI findings. Outcome data collected included mortality, ICU average length of stay (ALOS), number of ventilator days, and neurological disability at discharge assessed by modified Rankin scale (MRS). Results: Fourteen patients were admitted with PRES. Thirteen patients were female, and their mean age was 31.5 ± 8.3 years. Etiology of PRES included eclampsia (64.2%), lupus nephritis (21.4%), CKD (7.1%), and hypertension (n = 1 [7.1%]). The most common presenting symptom was seizure (92.8%), followed by visual disturbance (42.8%), headache (42.8%), encephalopathy (14.2%), and status epilepticus (14.2%). The Glasgow coma scale on admission was 12.3 ± 2.9. High blood pressure was seen in 12 patients 85.7%; their mean systolic and diastolic pressures were 173 ± 10.2 and 110 ± 8.6 mmHg, respectively. MRI showed that parieto-occipital region was most commonly involved (92.8%), followed by frontal lobe (42.8%). ICU ALOS was 4.35 ± 2.4 days and mean ventilator days was 1.7 ± 2.0 days. One patient (1/14 [7.4%]) died of multiorgan failure and 13 patients were discharged with no residual neurological deficit (MRS, 0). Conclusions: PRES is a potentially reversible disorder with prompt recognition and control of blood pressure. PMID:28808366

  14. Clinical Features and Outcomes of Patients with Posterior Reversible Encephalopathy Syndrome.

    PubMed

    Kalaiselvan, M S; Renuka, M K; Arunkumar, A S

    2017-07-01

    The aim of this study was to study the clinical features and outcomes of patients with posterior reversible encephalopathy syndrome (PRES) admitted to the Intensive Care Unit (ICU). All adult patients admitted to our ICU with acute onset neurologic symptoms with focal vasogenic edema on magnetic resonance imaging (MRI) were included in the study. Data were collected on demography, coexisting illness, admission severity of illness, neurological symptoms, blood pressure, treatment initiated, and MRI findings. Outcome data collected included mortality, ICU average length of stay (ALOS), number of ventilator days, and neurological disability at discharge assessed by modified Rankin scale (MRS). Fourteen patients were admitted with PRES. Thirteen patients were female, and their mean age was 31.5 ± 8.3 years. Etiology of PRES included eclampsia (64.2%), lupus nephritis (21.4%), CKD (7.1%), and hypertension (n = 1 [7.1%]). The most common presenting symptom was seizure (92.8%), followed by visual disturbance (42.8%), headache (42.8%), encephalopathy (14.2%), and status epilepticus (14.2%). The Glasgow coma scale on admission was 12.3 ± 2.9. High blood pressure was seen in 12 patients 85.7%; their mean systolic and diastolic pressures were 173 ± 10.2 and 110 ± 8.6 mmHg, respectively. MRI showed that parieto-occipital region was most commonly involved (92.8%), followed by frontal lobe (42.8%). ICU ALOS was 4.35 ± 2.4 days and mean ventilator days was 1.7 ± 2.0 days. One patient (1/14 [7.4%]) died of multiorgan failure and 13 patients were discharged with no residual neurological deficit (MRS, 0). PRES is a potentially reversible disorder with prompt recognition and control of blood pressure.

  15. The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome

    PubMed Central

    Topcu, Yasemin; Bayram, Erhan; Karaoglu, Pakize; Yis, Uluc; Kurul, Semra Hiz

    2013-01-01

    Shapiro syndrome is an extremely rare condition consisting the clinical triad of recurrent hypothermia, hyperhydrosis and agenesis of the corpus callosum. On the other hand, reverse Shapiro's sydrome is characterized periodic hyperthermia and agenesis of the corpus callosum. Here, we describe a 3.5-year-old girl with complete agenesis of corpus callosum presenting with recurrent fever and vomiting. She also had hypothermia attacks with accompanying diaphoresis. To the best of our knowledge, there is no described case with episodes of hyperthermia, hypothermia, and vomiting associated with agenesis of the corpus callosum. Recurrent vomiting may be a newly defined symptom associated with these syndromes. PMID:24339619

  16. Mild encephalitis/encephalopathy with reversible splenial and cerebellar lesions (MERS type II) in a patient with hemolytic uremic syndrome (HUS).

    PubMed

    Gawlitza, Matthias; Hoffmann, Karl-Titus; Lobsien, Donald

    2015-01-01

    The typical form of mild encephalitis/encephalopathy with a reversible splenial lesion— called MERS type I—is characterized by a singular, reversible lesion in the midline of the splenium. Very rarely, additional lesions with similar signal characteristics can occur in other brain areas, which is then referred to as MERS type II. We present the case of a patient with a reversible splenial lesion and concomitant reversible cerebellar lesions within the scope of an atypical hemolytic uremic syndrome (HUS).

  17. Reversible cerebral vasoconstriction syndrome associated with fingolimod treatment in relapsing-remitting multiple sclerosis three months after childbirth.

    PubMed

    Kraemer, Markus; Weber, Ralph; Herold, Michèle; Berlit, Peter

    2015-10-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by acute thunderclap headache, evidence of vasoconstriction in conventional angiography or magnetic resonance angiography and reversibility of these phenomena within 12 weeks. Some triggering factors, for example drugs such as selective serotonin reuptake inhibitors, sumatriptan, tacrolimus, cyclophosphamide and cocaine, or states such as pregnancy, puerperium or migraine have been described. We describe the case of a 29-year-old woman with RCVS associated with fingolimod three months after childbirth. This case represents the first report of RCVS in fingolimod treatment. © The Author(s), 2015.

  18. Regular exercise training reverses ectonucleotidase alterations and reduces hyperaggregation of platelets in metabolic syndrome patients.

    PubMed

    Martins, Caroline Curry; Bagatini, Margarete Dulce; Cardoso, Andréia Machado; Zanini, Daniela; Abdalla, Fátima Husein; Baldissarelli, Jucimara; Dalenogare, Diéssica Padilha; Farinha, Juliano Boufleur; Schetinger, Maria Rosa Chitolina; Morsch, Vera Maria

    2016-02-15

    Alterations in the activity of ectonucleotidase enzymes have been implicated in cardiovascular diseases, whereas regular exercise training has been shown to prevent these alterations. However, nothing is known about it relating to metabolic syndrome (MetS). We investigated the effect of exercise training on platelet ectonucleotidase enzymes and on the aggregation profile of MetS patients. We studied 38 MetS patients who performed regular concurrent exercise training for 30 weeks. Anthropometric measurements, biochemical profiles, hydrolysis of adenine nucleotides in platelets and platelet aggregation were collected from patients before and after the exercise intervention as well as from individuals of the control group. An increase in the hydrolysis of adenine nucleotides (ATP, ADP and AMP) and a decrease in adenosine deamination in the platelets of MetS patients before the exercise intervention were observed (P<0.001). However, these alterations were reversed by exercise training (P<0.001). Additionally, an increase in platelet aggregation was observed in the MetS patients (P<0.001) and the exercise training prevented platelet hyperaggregation in addition to decrease the classic cardiovascular risks. An alteration of ectonucleotidase enzymes occurs during MetS, whereas regular exercise training had a protective effect on these enzymes and on platelet aggregation. Copyright © 2016 Elsevier B.V. All rights reserved.

  19. Reversible and cachexia-associated feline skin fragility syndrome in three cats.

    PubMed

    Furiani, Nicla; Porcellato, Ilaria; Brachelente, Chiara

    2017-10-01

    Feline skin fragility syndrome (FSFS) is an acquired disorder characterized by altered collagen production resulting in an extremely thin and fragile skin. FSFS is associated with diseases characterized by excessive steroidal hormones that can inhibit collagen synthesis. It is also described concomitantly with severe inflammatory, infectious or neoplastic conditions where the pathogenesis remains largely unknown. To describe three cases of FSFS in cats that become cachectic secondary to different causes without glucocorticoid involvement. To describe the histopathological features of connective tissue for both fragile skin and the skin after healing. All cats developed cachexia in less than two months (body condition score ranging from 1-1.5). Concomitant diseases were diagnosed in Case 1 (aspiration pneumonia due to mega-oesophagus) and Case 2 (feline immunodeficiency virus (FIV)). In Case 3, malnutrition was suspected as a primary cause. The main histological feature of fragile skin was an atrophic dermis with pale eosinophilic, thin and irregular collagen fibres with numerous red cores observed with Masson's stain. Elastic fibres were normal. Postrecovery histopathological findings at 11 (Case 1) and six months (Case 3) after diagnosis, indicated normalization of the collagen and of the whole skin as compared with controls. To the best of the authors' knowledge, this is the first report describing a reversible, nonsteroid-induced FSFS, associated with rapidly developing cachexia in cats. © 2017 ESVD and ACVD.

  20. Posterior reversible encephalopathy syndrome in setting of postobstructive diuresis and persistent hypocalcemia.

    PubMed

    Gera, Dinesh N; Patil, Sachin B; Parikh, Mitul; Modi, Pranjal R; Kute, Vivek B; Trivedi, Hargovind L

    2012-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiographic entity of heterogenous etiologies, which are grouped together because of similar findings on neuroimaging studies, associated with similar symptom complex of headache, vision loss, altered mentation, and seizures. In this report, we describe a case of PRES in setting of postobstructive diuresis in a 5-year-old male child, whose solitary functioning kidney was obstructed by a 1.6-cm radio-opaque stone, who after percutaneous nephrostomy (PCN) diversion developed persistent hypocalcemia which persisted despite maximum replacement by iv calcium gluconate drip, and the child developed repeated generalized tonic clonic convulsions and became unconscious for 4 days. Computerized tomography (CT) scan of the brain showed typical hypodensities in bilateral occipitoparietal regions suggesting PRES. Ultimately, over a period of 4 days, his hypocalcemia could be corrected and the child was neurologically normal on the 5th day. CT scan of the brain after a month was free of any hypodensities.

  1. Rapid reversion of Loeffler's endocarditis by imatinib in early stage clonal hypereosinophilic syndrome.

    PubMed

    Rotoli, Bruno; Catalano, Lucio; Galderisi, Maurizio; Luciano, Luigia; Pollio, Giuditta; Guerriero, Anna; D'Errico, Arcangelo; Mecucci, Cristina; La Starza, Roberta; Frigeri, Ferdinando; Di Francia, Raffaele; Pinto, Antonio

    2004-12-01

    Endomyocardial fibrosis (Loeffler's endocarditis) is the main cause of poor outcome in Hyper Eosinophilic Syndrome (HES) and Eosinophilic Leukemia (EL). Reversion of the cardiac damage has been seldom reported, and thrombi can superimpose on infiltrated walls, originating oembolic complications. The tyrosine kynase inhibitor imatinib has been recently employed in patients affected by HES or EL, with impressive results. We have treated with imatinib a young patient affected by Loeffler's endocarditis during EL. Loeffler's endocarditis was studied by transthoracic Doppler echocardiography with and without the contrast agent SonoVue. Cytogenetics, FISH and molecular analysis showed the presence of the FIP1L1/PDGFRA fusion gene, recently detected in a majority of HES patients. Standard echocardiography revealed a large infiltration of the apical region, with apparently pedunculate corpora floating in the LV chamber; after SonoVue injection, a thick endo-myocardial infiltration involving papillary muscles and tendinous chords appeared, which simulated mobile thrombi at standard echography. Treatment with low dose imatinib caused rapid regression of both eosinophilic proliferation and endomyocardiopathy. The fusion gene FIP1L1-PDGFRA was found significantly decreased after a few months of treatment. Using a contrast echocardiographic approach, we demonstrated the non-thrombotic origin of the "in plus" image in our patient and its rapid resolution following imatinib treatment. Imatinib is an excellent candidate for first line treatment of Loeffler's endocarditis, especially when the FIP1L1/PDGFA fusion gene is detected.

  2. Possible overlap between reversible cerebral vasoconstriction syndrome and symptomatic vasospasm after aneurysmal subarachnoid hemorrhage.

    PubMed

    Forget, Patrice; Goffette, Pierre; van de Wyngaert, Françoise; Raftopoulos, Christian; Hantson, Philippe

    2009-08-01

    A 34-year-old woman with a previous history of severe headache ("thunderclap") was admitted with a diagnosis of aneurysmal subarachnoid hemorrhage (SAH). The patient developed symptomatic vasospasm on day 5 that resolved rapidly after having increased arterial blood pressure. She experienced also short-lasting excruciating headache. On day 12, while velocities had normalised, as revealed by transcranial Doppler (TCD), for more than 48 h, she developed aphasia and right hemiplegia associated with diffuse segmental vasospasm on the left middle cerebral artery. Intra-arterial infusion of vasodilatory agents was required. Recurrence of symptomatic vasospasm was noted on day 25, with a great number of territories involved as shown in the cerebral angiogram. A second intra-arterial treatment was needed. The patient complained of multiple episodes of extremely severe headache ("thunderclap"), with also transient dysarthria and hemiparesia on day 30. She was discharged on day 38 after full recovery. The clinical and TCD/radiological findings were consistent with a reversible cerebral vasoconstriction syndrome overlapping SAH related symptomatic vasospasm.

  3. Reverse transcription recombinase polymerase amplification assay for the detection of middle East respiratory syndrome coronavirus.

    PubMed

    Abd El Wahed, Ahmed; Patel, Pranav; Heidenreich, Doris; Hufert, Frank T; Weidmann, Manfred

    2013-12-12

    The emergence of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in the eastern Mediterranean and imported cases to Europe has alerted public health authorities. Currently, detection of MERS-CoV in patient samples is done by real-time RT-PCR. Samples collected from suspected cases are sent to highly-equipped centralized laboratories for screening. A rapid point-of-care test is needed to allow more widespread mobile detection of the virus directly from patient material. In this study, we describe the development of a reverse transcription isothermal Recombinase Polymerase Amplification (RT-RPA) assay for the identification of MERS-CoV. A partial nucleocapsid gene RNA molecular standard of MERS-coronavirus was used to determine the assay sensitivity. The isothermal (42°C) MERS-CoV RT-RPA was as sensitive as real-time RT-PCR (10 RNA molecules), rapid (3-7 minutes) and mobile (using tubescanner weighing 1kg). The MERS-CoV RT-RPA showed cross-detection neither of any of the RNAs of several coronaviruses and respiratory viruses affecting humans nor of the human genome. The developed isothermal real-time RT-RPA is ideal for rapid mobile molecular MERS-CoV monitoring in acute patients and may also facilitate the search for the animal reservoir of MERS-CoV.

  4. Paraparetic Guillain-Barré syndrome: Nondemyelinating reversible conduction failure restricted to the lower limbs.

    PubMed

    Kimachi, Takeshi; Yuki, Nobuhiro; Kokubun, Norito; Yamaguchi, Shuhei; Wakerley, Benjamin R

    2017-02-01

    Paraparetic Guillain-Barré syndrome (GBS) is a rare subtype of GBS characterized by leg weakness and areflexia in the absence of neurological involvement of the arms, cranial nerves, or respiratory muscles. Onset is characterized by lower back, buttock, or leg pain, followed by development of symmetric flaccid limb weakness in the absence of sensory disturbance. We describe an elderly woman who developed postinfectious symmetric flaccid leg weakness in the absence of sensory disturbance. Serial nerve conduction studies were carried out over 5 months. Antecedent infection, a monophasic disease course, and the presence of cerebrospinal fluid albuminocytological dissociation suggested a diagnosis of paraparetic GBS. Serial nerve conduction studies demonstrated nondemyelinating reversible conduction failure, which was restricted to the legs. Axonal neuropathy was supported by the presence of anti-GM1 IgG antibodies. These findings suggest that patients with paraparetic GBS have axonal neuropathy, which is restricted to the lower limbs. Muscle Nerve 55: 281-285, 2017. © 2016 Wiley Periodicals, Inc.

  5. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome.

    PubMed

    Scaffidi, Paola; Misteli, Tom

    2005-04-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a childhood premature aging disease caused by a spontaneous point mutation in lamin A (encoded by LMNA), one of the major architectural elements of the mammalian cell nucleus. The HGPS mutation activates an aberrant cryptic splice site in LMNA pre-mRNA, leading to synthesis of a truncated lamin A protein and concomitant reduction in wild-type lamin A. Fibroblasts from individuals with HGPS have severe morphological abnormalities in nuclear envelope structure. Here we show that the cellular disease phenotype is reversible in cells from individuals with HGPS. Introduction of wild-type lamin A protein does not rescue the cellular disease symptoms. The mutant LMNA mRNA and lamin A protein can be efficiently eliminated by correction of the aberrant splicing event using a modified oligonucleotide targeted to the activated cryptic splice site. Upon splicing correction, HGPS fibroblasts assume normal nuclear morphology, the aberrant nuclear distribution and cellular levels of lamina-associated proteins are rescued, defects in heterochromatin-specific histone modifications are corrected and proper expression of several misregulated genes is reestablished. Our results establish proof of principle for the correction of the premature aging phenotype in individuals with HGPS.

  6. Posterior reversible encephalopathy syndrome in a uremic patient with autosomal recessive polycystic kidney disease.

    PubMed

    Yoshida, Tadashi; Hiratsuka, Ken; Yamashita, Maho; Matsui, Ayumi; Hayashi, Matsuhiko

    2015-11-01

    Posterior reversible encephalopathy syndrome (PRES) is characterized by headache, seizures, altered mental status, and visual disturbance. It is diagnosed by the presence of both clinical symptoms and radiographic findings on the parietal-occipital lobes. We here report a 61-year-old woman with non-compensative liver cirrhosis and chronic kidney disease, presenting with uremia-induced PRES. She expressed loss of consciousness and subsequent visual disturbance, during the progression of uremia. She was treated with hemodiafiltration therapy, and the symptoms of PRES fully improved. The case is of particular interest, in that the appearance of abnormal findings on magnetic resonance imaging was delayed more than 2 weeks, as compared to that of clinical symptoms. The etiology of chronic kidney disease in the patient was considered to be autosomal recessive polycystic kidney disease, and we performed DNA sequencing analysis on the polycystic kidney and hepatic disease 1 gene. Two homozygous missense mutations were found in the patient and may combinatorially affect the disease. This case raises a possibility that the incidence of PRES is much higher if the radiological examination is performed more frequently.

  7. Prevalence and risk factors associated with reversed Robin Hood syndrome in acute ischemic stroke.

    PubMed

    Alexandrov, Andrei V; Nguyen, Huy Thang; Rubiera, Marta; Alexandrov, Anne W; Zhao, Limin; Heliopoulos, Ioannis; Robinson, Alice; Dewolfe, Jennifer; Tsivgoulis, Georgios

    2009-08-01

    Early deterioration can occur after acute stroke for a variety of reasons. We describe a hemodynamic steal and associated neurological deterioration, the reversed Robin Hood syndrome (RRHS). We aimed to investigate the frequency and factors associated with RRHS. Consecutive patients with acute cerebral ischemia underwent serial National Institutes of Health Stroke Scale and bilateral transcranial Doppler monitoring with breathholding. Steal magnitude (%) was calculated from transient mean flow velocity reduction in the affected arteries at the time of velocity increase in normal vessels. Excessive sleepiness and likelihood of sleep apnea were evaluated by the Epworth Sleepiness Scale and Berlin Questionnaire. Among 153 patients (age, 61+/-14 years; 48% women; 21% transient ischemic attack) admitted within 48 hours from symptom onset, 21 (14%) had steal phenomenon (median steal magnitude, 20%; interquartile range, 11%; range, 6% to 45%), and 11 (7%) had RRHS. RRHS was most frequent in patients with proximal arterial occlusions (17% versus 1%; P<0.001). The following factors were independently (P<0.05) associated with RRHS (multivariate logistic regression model): male gender, younger age, persisting arterial occlusions, and excessive sleepiness (P<0.001). A 1-point increase in the Epworth Sleepiness Scale was independently related to an increased likelihood of RRHS of 36% (95% CI, 7% to 73%). RRHS and hemodynamic steal can be found in 7% and 14%, respectively, of consecutive patients with stroke without other known causes for deterioration. Patients with persisting arterial occlusions and excessive sleepiness can be particularly vulnerable to the steal.

  8. Reversed Robin Hood Syndrome in the Light of Nonlinear Model of Cerebral Circulation

    NASA Astrophysics Data System (ADS)

    Piechna, A.; Cieslicki, K.

    2017-05-01

    The brain is supplied by the internal carotid and vertebro-basilar systems of vessels interconnected by arterial anastomoses and forming at the base of the brain a structure called the Circle of Willis (CoW). An active intrinsic ability of cerebral vascular bed maintains constant Cerebral Blood Flow (CBF) in a certain range of systemic pressure changes. This ability is called autoregulation and together with the redundant structure of the CoW guarantee maintaining CBF even in partial occlusion of supplying arteries. However, there are some situations when the combination of those two mechanisms causes an opposite effect called the Reversed Robin Hood Syndrome (RRHS). In this work we proposed a model of the CoW with autoregulation mechanism and investigated a RRHS which may occur in the case of Internal Carotid Artery (ICA) stenosis combined with hypercapnia. We showed and analyzed the mechanism of stealing the blood by the contralateral side of the brain. Our results were qualitatively compared with the clinical reports available in the literature.

  9. Posterior Reversible Encephalopathy Syndrome as Presenting Form of Very Early Systemic Sclerosis

    PubMed Central

    Pedraza, María Isabel; Barbado, Julia; Ruiz, Marina; Guerrero, Ángel Luis

    2015-01-01

    Introduction. Posterior Reversible Encephalopathy Syndrome (PRES) is an increasingly recognized clinical and radiological entity with a wide spectrum of symptoms. Its mechanism depends on failure of the blood-brain barrier due to high systemic blood pressure (BP) and loss of integrity of vascular endothelium related with different triggers. Methods. We aim to report a case of PRES induced by arterial hypertension and very early systemic sclerosis (SSc) not previously known. Results. A 64-year-old female was admitted due to 1-week pulsating headache more prominent on frontal scalp, accompanied by phonophobia, photophobia, and facial flushing. Neurological exam revealed brisk deep tendon reflex. Brain magnetic resonance imaging (MRI) showed subcortical lesions mainly located in posterior regions. BP was monitored and episodic arterial hypertension was detected. In laboratory tests positive anti-topoisomerase I antibodies were detected. BP was controlled with angiotensin-converting-enzyme inhibitors and headache improved. In a new MRI a month later improvement of white matter lesions was observed. Capillaroscopy showed “active pattern,” considered typical of SSc. Conclusion. In SSc anti-endothelial cell antibodies impair vascular endothelium and liberation of vasoconstrictors leads to BP increasing and disruption of blood-brain barrier autoregulation mechanisms. PRES can be the first manifestation of very early SSc and this entity should be considered even in absence of skin lesions or Raynaud phenomenon. PMID:25802777

  10. Reversible cerebral vasoconstriction syndrome: Is it more than just cerebral vasoconstriction?

    PubMed

    John, Seby; Hajj-Ali, Rula A; Min, David; Calabrese, Leonard H; Cerejo, Russell; Uchino, Ken

    2015-06-01

    Systemic vascular alterations have not been described in reversible cerebral vasoconstriction syndrome (RCVS). We present a case series of RCVS patients having cardiac dysfunction during ictus, with a subset showing complete resolution of cardiomyopathy. Retrospective case-series: Cardiac left ventricular ejection fraction (LVEF) and wall motion abnormalities (WMA) visualized on transthoracic echocardiography (TTE), performed during RCVS ictus and follow-up was analyzed. Of 68 patients, 18 (26%) had a TTE performed around ictus. Three of 18 (17%) patients demonstrated WMA on initial TTE. All three patients were female without previous coronary artery disease or heart failure, and were asymptomatic from the cardiac dysfunction. WMA resolved completely on follow-up in Patients 1 and 2. Global LV dysfunction persisted for at least 90 days in Patient 3. Although the exact pathophysiology of the cardiomyopathy is uncertain, it may be related to localized coronary vasoconstriction causing myocardial ischemia/infarction. Vasoconstriction may not be limited to the cerebral vasculature and may involve extracerebral organs. Cardiac ventricular abnormalities may be a part of the RCVS spectrum. © International Headache Society 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  11. Posterior Reversible Encephelopathy Syndrome Presenting as Quadriparesis in Pregnancy Induced Hypertension

    PubMed Central

    Pranita; Kumar, Ajit; Shahi, Seema

    2015-01-01

    Pregnancy Induced Hypertension (PIH) is a condition characterised by raised blood pressure in pregnancy. It affects approximately one out of every 14 pregnant women. Although PIH more commonly occurs during first pregnancy, it can also occur in subsequent pregnancies. It can present with variable complications related to vasospasm. But focal neurologic deficits are extremely rare in patients with PIH. We report a case of quadriparesis due to posterior reversible encephalopathy syndrome (PRES). A 36 year old full term pregnant female was admitted for emergency lower segment caesarean section (LSCS) as a result of uncontrolled PIH with early clinical signs of left ventricular failure. She was recovering well from pulmonary oedema after being provided with mechanical ventilation. However on 4th day she developed sudden onset quadriparesis without any alteration in sensorium, bladder & bowel disturbance or any sensory deficit. Diffusion weighted neuroimaging (DWI) was carried out which revealed finding suggestive of PRES. The patient was treated with antihypertensive which followed improvement in neurological deficit. Although rare, PRES should be considered as a potential cause of acute onset focal neurological deficit in pregnant females with PIH. With this case report we have tried to create awareness and vigilance about rare but potentially serious yet salvageable condition like PRES. PMID:26023585

  12. A school-based application of modified habit reversal for Tourette syndrome via a translator: a case study.

    PubMed

    Gilman, Rich; Connor, Nancy; Haney, Michelle

    2005-11-01

    A school-based modified habit reversal intervention was utilized with an adolescent diagnosed with Tourette syndrome who recently immigrated from Mexico. Because the student possessed little proficiency of the English language, an interpreter was needed to help implement the procedure. The frequency of motor tics markedly decreased from baseline to intervention across classroom settings. Results of two follow-up phases revealed that motor tic levels remained below those observed in the baseline phase. Implications and limitations of these findings are noted.

  13. [Patient with posterior reversible encephalopathy syndrome with prolonged disturbance of consciousness and convulsion after cerebral aneurysm surgery].

    PubMed

    Ueda, Kayo; Hoshi, Takuo; Yorozu, Shinko; Okazaki, Junko; Motomura, Yuji; Masumoto, Tomohiko; Tsubokawa, Tsunehisa; Tanaka, Makoto

    2011-02-01

    A 73-year-old patient developed convulsion and prolonged disturbance of consciousness after clipping surgery for unruptured cerebral aneurysm. The patient's consciousness improved four days after surgery, and radiological findings suggested posterior reversible encephalopathy syndrome (PRES). The cause of PRES is thought to be dysfunction of blood brain barrier by a sudden increase in blood pressure. In case of unexplained convulsion and decreased level of consciousness, PRES should be considered with radiographic examinations including CT and MRI.

  14. A rare case of chemotherapy induced reversible cerebral vasoconstriction syndrome in a patient of acute lymphocytic leukemia.

    PubMed

    Sankhe, Shilpa; Kamath, Namita; Sahu, Arpita

    2015-01-01

    Neurotoxic reactions of chemotherapy occur frequently and are often dose limiting side effects of chemotherapy. It is important to differentiate these various nonneoplastic effects from metastases, or sometimes even from each other, since the therapeutic approach differs accordingly. To arrive at a definitive and comprehensive diagnosis, the radiologist should integrate imaging findings, clinical signs, and laboratory results together. Here we present a unique case of chemotherapy induced reversible cerebral vasoconstriction syndrome in a 13-year-old patient of acute lymphoblastic leukemia.

  15. Reversible cerebral vasoconstriction syndrome in a 35-year-old woman following hysterectomy and bilateral salpingo-oophorectomy.

    PubMed

    Moussavi, Mohammad; Korya, Daniel; Panezai, Spozhmy; Peeraully, Tasneem; Gizzi, Martin; Kirmani, Jawad F

    2012-11-01

    Reversible cerebral vasoconstriction syndromes (RCVS) have been documented to take place after an inciting event or illness. They present with headache, altered mental status and focal neurologic findings. The differential diagnosis includes primary angiitis of the central nervous system (PACNS) but one major clinical difference is that the symptoms of RCVS usually resolve within days or weeks whereas PACNS is often fatal. Females of childbearing age are most commonly affected with RCVS. Cases of reversible vasculopathy have also been reported in menopausal women. The hormonal and physiologic changes that take place during the postpartum period and menopause may not be very different from those that occur after a hysterectomy and oophorectomy. A case is presented of a 35-year-old woman who underwent a hysterectomy with bilateral salpingo-oophorectomy and then began experiencing severe headaches, visual changes and hemi-sensory loss. Physical examination, imaging and laboratory findings were descriptive of RCVS, and the patient's rapid recovery was consistent with the usual disease progression of a reversible vasculopathy. A reversible cerebral vasoconstriction syndrome may occur in some circumstances after a hysterectomy with bilateral salpingo-oophorectomy. The mechanisms involved in the development of this condition are explained by current research concerning effects on the vasculature of sudden drops in estrogens and progesterones. More studies are required to further establish the pathophysiology, diagnosis and treatment of this condition.

  16. Postpartum posterior reversible encephalopathy syndrome (PRES) in a twin pregnancy complicated by preeclampsia-eclampsia: case report.

    PubMed

    Papoutsis, D; El-Attabi, N; Sizer, A

    2014-01-01

    This is the second case in literature of posterior reversible encephalopathy syndrome (PRES) in a twin pregnancy complicated by preeclampsia-eclampsia. A 27-year-old primigravida with dichorionic diamniotic twin pregnancy was admitted at 36 weeks of gestation for induction of labour due to preeclampsia. On the second day postpartum, the patient developed severe hypertension, visual symptoms, confusion, headache, and eclamptic fits. Head computed tomography (CT) showed hypodense basal ganglia lesions. The patient was treated in the intensive treatment unit with hydralazine and labetalol infusions and anticonvulsants. Five days later, there was complete clinical improvement and follow-up magnetic resonance imaging (MRI) was normal. The patient was discharged 11 days post-delivery. Diagnosis of PRES is based on the presence of clinical features of acute neurologic compromise, abnormal neuroimaging findings, and complete reversibility of findings after prompt treatment. Early recognition and proper treatment result in complete reversibility of this condition.

  17. Real-Time Reverse Transcription-PCR Assay Panel for Middle East Respiratory Syndrome Coronavirus

    PubMed Central

    Lu, Xiaoyan; Whitaker, Brett; Sakthivel, Senthil Kumar K.; Kamili, Shifaq; Rose, Laura E.; Lowe, Luis; Mohareb, Emad; Elassal, Emad M.; Al-sanouri, Tarek; Haddadin, Aktham

    2014-01-01

    A new human coronavirus (CoV), subsequently named Middle East respiratory syndrome (MERS)-CoV, was first reported in Saudi Arabia in September 2012. In response, we developed two real-time reverse transcription-PCR (rRT-PCR) assays targeting the MERS-CoV nucleocapsid (N) gene and evaluated these assays as a panel with a previously published assay targeting the region upstream of the MERS-CoV envelope gene (upE) for the detection and confirmation of MERS-CoV infection. All assays detected ≤10 copies/reaction of quantified RNA transcripts, with a linear dynamic range of 8 log units and 1.3 × 10−3 50% tissue culture infective doses (TCID50)/ml of cultured MERS-CoV per reaction. All assays performed comparably with respiratory, serum, and stool specimens spiked with cultured virus. No false-positive amplifications were obtained with other human coronaviruses or common respiratory viral pathogens or with 336 diverse clinical specimens from non-MERS-CoV cases; specimens from two confirmed MERS-CoV cases were positive with all assay signatures. In June 2012, the U.S. Food and Drug Administration authorized emergency use of the rRT-PCR assay panel as an in vitro diagnostic test for MERS-CoV. A kit consisting of the three assay signatures and a positive control was assembled and distributed to public health laboratories in the United States and internationally to support MERS-CoV surveillance and public health responses. PMID:24153118

  18. MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.

    PubMed

    Gadalla, Kamal K E; Bailey, Mark E S; Cobb, Stuart R

    2011-10-01

    Mutations in the X-linked gene MECP2 (methyl CpG-binding protein 2) are the primary cause of the neurodevelopmental disorder RTT (Rett syndrome), and are also implicated in other neurological conditions. The expression product of this gene, MeCP2, is a widely expressed nuclear protein, especially abundant in mature neurons of the CNS (central nervous system). The major recognized consequences of MECP2 mutation occur in the CNS, but there is growing awareness of peripheral effects contributing to the full RTT phenotype. MeCP2 is classically considered to act as a DNA methylation-dependent transcriptional repressor, but may have additional roles in regulating gene expression and chromatin structure. Knocking out Mecp2 function in mice recapitulates many of the overt neurological features seen in RTT patients, and the characteristic postnatally delayed onset of symptoms is accompanied by aberrant neuronal morphology and deficits in synaptic physiology. Evidence that reactivation of endogenous Mecp2 in mutant mice, even at adult stages, can reverse aspects of RTT-like pathology and result in apparently functionally mature neurons has provided renewed hope for patients, but has also provoked discussion about traditional boundaries between neurodevelopmental disorders and those involving dysfunction at later stages. In the present paper we review the neurobiology of MeCP2 and consider the various genetic (including gene therapy), pharmacological and environmental interventions that have been, and could be, developed to attempt phenotypic rescue in RTT. Such approaches are already providing valuable insights into the potential tractability of RTT and related conditions, and are useful pointers for the development of future therapeutic strategies.

  19. Unilateral posterior reversible encephalopathy syndrome with hypertensive therapy of contralateral vasospasm: case report.

    PubMed

    Dhar, Rajat; Dacey, Ralph; Human, Theresa; Zipfel, Gregory

    2011-11-01

    Hemodynamic treatment of subarachnoid hemorrhage-induced vasospasm is associated with a number of systemic and cerebral risks. However, hypertensive encephalopathy has rarely been reported in the setting of induced hypertension. Recognition of this complication is nonetheless critical because failure to lower blood pressure may lead to worsening of deficits and even permanent injury. This report details a case of unilateral hypertensive encephalopathy (also referred to as posterior reversible encephalopathy syndrome [PRES]) in a subarachnoid hemorrhage patient who was being treated with induced hypertension for symptomatic vasospasm affecting the contralateral hemisphere. This patient developed right hemispheric deficits associated with angiographic vasospasm of the right middle cerebral artery, which responded to induced hypertension. However, within 24 hours of raising blood pressure, the patient deteriorated with new left hemispheric deficits that paradoxically worsened when blood pressure was raised further in response. Computed tomography imaging was suspicious for evolving infarction in the left hemisphere, but on reevaluation, concern for PRES was raised. Magnetic resonance imaging confirmed left hemispheric PRES, and a dramatic neurological improvement occurred almost immediately after lowering blood pressure. Repeat CT showed resolution of the left hemispheric edema. This is the first reported case of unilateral PRES in the setting of subarachnoid hemorrhage. It likely occurred because right-sided vasospasm attenuated ipsilateral distal perfusion pressures, leaving the left hemisphere vulnerable to the consequences of induced hypertension. Hypertensive encephalopathy should be considered in patients with unilateral or asymmetric vasospasm when neurological worsening occurs in the contralateral hemisphere during induced hypertension and/or the patient paradoxically worsens despite raising blood pressure.

  20. A central role for CD68(+) macrophages in hepatopulmonary syndrome. Reversal by macrophage depletion.

    PubMed

    Thenappan, Thenappan; Goel, Ankush; Marsboom, Glenn; Fang, Yong-Hu; Toth, Peter T; Zhang, Hannah J; Kajimoto, Hidemi; Hong, Zhigang; Paul, Jonathan; Wietholt, Christian; Pogoriler, Jennifer; Piao, Lin; Rehman, Jalees; Archer, Stephen L

    2011-04-15

    The etiology of hepatopulmonary syndrome (HPS), a common complication of cirrhosis, is unknown. Inflammation and macrophage accumulation occur in HPS; however, their importance is unclear. Common bile duct ligation (CBDL) creates an accepted model of HPS, allowing us to investigate the cause of HPS. We hypothesized that macrophages are central to HPS and investigated the therapeutic potential of macrophage depletion. Hemodynamics, alveolar-arterial gradient, vascular reactivity, and histology were assessed in CBDL versus sham rats (n = 21 per group). The effects of plasma on smooth muscle cell proliferation and endothelial tube formation were measured. Macrophage depletion was used to prevent (gadolinium) or regress (clodronate) HPS. CD68(+) macrophages and capillary density were measured in the lungs of patients with cirrhosis versus control patients (n = 10 per group). CBDL increased cardiac output and alveolar-arterial gradient by causing capillary dilatation and arteriovenous malformations. Activated CD68(+)macrophages (nuclear factor-κB+) accumulated in HPS pulmonary arteries, drawn by elevated levels of plasma endotoxin and lung monocyte chemoattractant protein-1. These macrophages expressed inducible nitric oxide synthase, vascular endothelial growth factor, and platelet-derived growth factor. HPS plasma increased endothelial tube formation and pulmonary artery smooth muscle cell proliferation. Macrophage depletion prevented and reversed the histological and hemodynamic features of HPS. CBDL lungs demonstrated increased medial thickness and obstruction of small pulmonary arteries. Nitric oxide synthase inhibition unmasked exaggerated pulmonary vasoconstrictor responses in HPS. Patients with cirrhosis had increased pulmonary intravascular macrophage accumulation and capillary density. HPS results from intravascular accumulation of CD68(+)macrophages. An occult proliferative vasculopathy may explain the occasional transition to portopulmonary hypertension

  1. Cerebral endothelial dysfunction in reversible cerebral vasoconstriction syndrome: a case-control study.

    PubMed

    Choi, Hyun Ah; Lee, Mi Ji; Chung, Chin-Sang

    2017-12-01

    The aim of this study is to investigate cerebral endothelial dysfunction in patients with reversible cerebral vasoconstriction syndrome (RCVS). We prospectively recruited patients with RCVS, age-matched controls with episodic migraine, and age-matched healthy controls at Samsung Medical Center from Apr 2015 to Jul 2016. All participants underwent transcranial Doppler evaluation, with a breath-holding maneuver, for the evaluation of bilateral middle cerebral arteries (MCAs), posterior cerebral arteries (PCAs), and the basilar artery (BA). The breath-holding index (BHI) was used to measure cerebral endothelium-dependent vasodilation. Follow-up BHIs were recorded in selected patients with RCVS after 3 months. A total of 84 subjects were recruited for this study (n = 28 in each group of RCVS, episodic migraine, and healthy control; mean age, 49.8 years). The RCVS group showed lower BHIs in all basal arteries, in comparison to healthy controls (p < 0.001, 0.009 for bilateral MCAs, p < 0.001 and 0.028 for bilateral PCAs, and p = 0.060 for the BA). Compared to migraineurs, RCVS patients had lower BHIs only in the anterior circulation (p = 0.002 and 0.038 for bilateral MCAs; p = 0.069 and 0.247 for bilateral PCAs; p = 0.120 for the BA). Of the 10 patients who had follow-up BHIs at 3 months, 7 showed complete normalization, while three did not. Cerebral endothelial function is impaired in a widespread distribution in RCVS. Its role in the pathogenesis and clinical outcome of RCVS should be determined in further studies.

  2. Association of reversed Robin Hood syndrome with risk of stroke recurrence.

    PubMed

    Palazzo, P; Balucani, C; Barlinn, K; Tsivgoulis, G; Zhang, Y; Zhao, L; Dewolfe, J; Toaldo, B; Stamboulis, E; Vernieri, F; Rossini, P M; Alexandrov, A V

    2010-11-30

    Reversed Robin Hood syndrome (RRHS) has recently been identified as one of the mechanisms of early neurologic deterioration in acute ischemic stroke (AIS) patients related to arterial blood flow steal from ischemic to nonaffected brain. We sought to investigate the association of RRHS with risk of stroke recurrence in a single-center cohort study. Consecutive patients with AIS or TIA affecting the anterior circulation were prospectively evaluated with serial NIH Stroke Scale assessments and bilateral transcranial Doppler monitoring with breath-holding test. RRHS was defined according to previously validated criteria. A total of 360 patients (51% women, mean age 62 ± 15 years) had an ischemic stroke (81%) or TIA (19%) in the anterior circulation, and 30 (8%) of them had RRHS. During a mean follow-up period of 6 months (range 1-24), a total of 16 (4%) recurrent strokes (15 ischemic and 1 hemorrhagic) were documented. The cumulative recurrence rate was higher in patients with RRHS (19%; 95% confidence interval [CI] 1-37) compared to the rest (15%; 95% CI 0-30; p = 0.022 by log-rank test). All recurrent strokes in patients with RRHS were cerebral infarcts that occurred in the ipsilateral to the index event anterior circulation vascular territory. After adjusting for demographic characteristics, vascular risk factors, and secondary prevention therapies, RRHS was independently associated with a higher stroke recurrence risk (hazard ratio 7.31; 95% CI 2.12-25.22; p = 0.002). Patients with AIS and RRHS appear to have a higher risk of recurrent strokes that are of ischemic origin and occur in the same arterial territory distribution to the index event. Further independent validation of this association is required in a multicenter setting.

  3. Long-term risk of seizures and epilepsy in patients with posterior reversible encephalopathy syndrome.

    PubMed

    Datar, Sudhir; Singh, Tarun; Rabinstein, Alejandro A; Fugate, Jennifer E; Hocker, Sara

    2015-04-01

    Seizures are common in patients with posterior reversible encephalopathy syndrome (PRES), which is reported in up to 70% of cases, and antiepileptic drugs (AEDs) are commonly prescribed. There is a paucity of data regarding the risk of subsequent seizures following resolution of PRES, and therefore the optimal duration of treatment with AEDs is currently unknown. The objective of this study was to identify the frequency of recurrent seizures and epilepsy following recovery from PRES. We performed a retrospective review of consecutive adults diagnosed with PRES between 2000 and 2010. One hundred twenty-seven patients, median age 53 years (interquartile range [IQR] 37-64), were included in the analysis. The most common causes of PRES were hypertension (72%) and immunosuppression (20%). Renal failure was present in 47%. Eighty-four patients (66%) had seizures at presentation (39 focal, 45 generalized), and 13 (15%) of them presented with status epilepticus. Median duration of follow-up was 3.2 years (IQR 4 months to 6.9 years). Patients with seizures were treated with AEDs for a median of 3 months (IQR 2-7). Fifteen patients (12%) had provoked seizures during the follow-up period; in eight (53%) patients seizures were caused by recurrent PRES. Only three patients had subsequent unprovoked seizures, one of whom was considered to have developed epilepsy. We conclude that unprovoked seizures and epilepsy are uncommon in patients who have recovered from PRES. Discontinuation of AEDs following resolution of PRES should be considered, provided there is adequate control of risk factors, and absence of factors that could substantially lower the seizure threshold. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  4. Brain-Derived Neurotrophic Factor Gene Val66Met Polymorphism Modulates Reversible Cerebral Vasoconstriction Syndromes

    PubMed Central

    Chen, Shih-Pin; Fuh, Jong-Ling; Wang, Shuu-Jiun; Tsai, Shih-Jen; Hong, Chen-Jee; Yang, Albert C.

    2011-01-01

    Background Reversible cerebral vasoconstriction syndrome (RCVS) could be complicated by cerebral ischemic events. Hypothetical mechanisms of RCVS involve endothelial dysfunction and sympathetic overactivity, both of which were reported to be related to brain-derived neurotrophic factor (BDNF). The study investigated the association between functional BDNF Val66Met polymorphism and RCVS. Methods Patients with RCVS and controls were prospectively recruited and genotyped for the BDNF Val66Met polymorphism. Magnetic resonance angiography (MRA) and transcranial color-coded Doppler sonography were employed to evaluate cerebral vasoconstriction. Genotyping results, clinical parameters, vasoconstriction scores, mean flow velocities of the middle cerebral artery (VMCA), and Lindegaard indices were analyzed. Split-sample approach was employed to internally validate the data. Principal Findings Ninety Taiwanese patients with RCVS and 180 age- and gender-matched normal controls of the same ethnicity completed the study. The genotype frequencies did not differ between patients and controls. Compared to patients with Met/Met homozygosity, patients with Val allele had higher mean vasoconstriction scores of all arterial segments (1.60±0.72 vs. 0.87±0.39, p<0.001), VMCA values (116.7±36.2 vs. 82.7±17.9 cm/s, p<0.001), and LI (2.41±0.91 vs. 1.89±0.41, p = 0.001). None of the Met/Met homozygotes, but 38.9% of the Val carriers, had VMCA values of >120 cm/s (p<0.001). Split-sample validation by randomization, age, entry time or residence of patients demonstrated concordant findings. Conclusions Our findings link BDNF Val66Met polymorphism with the severity of RCVS for the first time and implicate possible pathogenic mechanisms for vasoconstriction in RCVS. PMID:21437208

  5. Brain-derived neurotrophic factor gene Val66Met polymorphism modulates reversible cerebral vasoconstriction syndromes.

    PubMed

    Chen, Shih-Pin; Fuh, Jong-Ling; Wang, Shuu-Jiun; Tsai, Shih-Jen; Hong, Chen-Jee; Yang, Albert C

    2011-03-18

    Reversible cerebral vasoconstriction syndrome (RCVS) could be complicated by cerebral ischemic events. Hypothetical mechanisms of RCVS involve endothelial dysfunction and sympathetic overactivity, both of which were reported to be related to brain-derived neurotrophic factor (BDNF). The study investigated the association between functional BDNF Val66Met polymorphism and RCVS. Patients with RCVS and controls were prospectively recruited and genotyped for the BDNF Val66Met polymorphism. Magnetic resonance angiography (MRA) and transcranial color-coded Doppler sonography were employed to evaluate cerebral vasoconstriction. Genotyping results, clinical parameters, vasoconstriction scores, mean flow velocities of the middle cerebral artery (V(MCA)), and Lindegaard indices were analyzed. Split-sample approach was employed to internally validate the data. Ninety Taiwanese patients with RCVS and 180 age- and gender-matched normal controls of the same ethnicity completed the study. The genotype frequencies did not differ between patients and controls. Compared to patients with Met/Met homozygosity, patients with Val allele had higher mean vasoconstriction scores of all arterial segments (1.60±0.72 vs. 0.87±0.39, p<0.001), V(MCA) values (116.7±36.2 vs. 82.7±17.9 cm/s, p<0.001), and LI (2.41±0.91 vs. 1.89±0.41, p = 0.001). None of the Met/Met homozygotes, but 38.9% of the Val carriers, had V(MCA) values of >120 cm/s (p<0.001). Split-sample validation by randomization, age, entry time or residence of patients demonstrated concordant findings. Our findings link BDNF Val66Met polymorphism with the severity of RCVS for the first time and implicate possible pathogenic mechanisms for vasoconstriction in RCVS.

  6. Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model

    PubMed Central

    Goebel-Goody, Susan M.; Wilson-Wallis, Evan D.; Royston, Sara; Tagliatela, Stephanie; Naegele, Janice R.; Lombroso, Paul J.

    2014-01-01

    Fragile X syndrome (FXS), the most common inherited form of intellectual disability and prevailing known genetic basis of autism, is caused by an expansion in the Fmr1 gene that prevents transcription and translation of fragile X mental retardation protein (FMRP). FMRP binds to and controls translation of mRNAs downstream of metabotropic glutamate receptor (mGluR) activation. Recent work identified striatal-enriched protein tyrosine phosphatase (STEP) as an FMRP target mRNA. STEP opposes synaptic strengthening and promotes synaptic weakening by dephosphorylating its substrates, including ERK1/2, p38, Fyn, Pyk2, and subunits of NMDA and AMPA receptors. Here we demonstrate that STEP translation is dysregulated in Fmr1KO mice, resulting in elevated basal levels of STEP with a concomitant loss of mGluR-dependent STEP translation. We hypothesized that the weakened synaptic strength and behavioral abnormalities reported in FXS may be linked to excess levels of STEP. To test this hypothesis, we reduced or eliminated STEP genetically in Fmr1KO mice. In addition to attenuating audiogenic seizures and seizure-induced c-Fos activation in the periaqueductal gray, genetically reducing STEP in Fmr1KO mice reversed characteristic social abnormalities, including approach, investigation, novelty-induced hyperactivity and anxiety. Loss of STEP also corrected select non-social anxiety-related behaviors in Fmr1KO mice, such as open arm exploration in the elevated plus maze. Our findings indicate that genetically reducing STEP significantly diminishes seizures and restores social and non-social anxiety-related behaviors in Fmr1KO mice, suggesting that strategies to inhibit STEP activity may be effective for treating patients with FXS. PMID:22405502

  7. Tardive Syndromes are Rarely Reversible after Discontinuing Dopamine Receptor Blocking Agents: Experience from a University-based Movement Disorder Clinic

    PubMed Central

    Zutshi, Deepti; Cloud, Leslie J.; Factor, Stewart A.

    2014-01-01

    Background Several studies have examined reversibility of tardive syndromes (TS), primarily in psychotic patients who are maintained on dopamine receptor blocking drugs. The results have varied widely. However, few have assessed remission rates after discontinuing the offending agents. This study evaluated reversibility of TS in patients who permanently withdrew the causative agent(s). We also examined for any possible clinical predictors of reversibility. Methods A retrospective cohort of 108 TS patients was studied. Most of the patients were not psychotic; most patients were being treated either for a mood disorder with atypical antipsychotics or for a gastrointestinal disturbance with metoclopramide. Patients were stratified on the basis of reversibility, and statistical tests were used for subgroup comparisons of relevant clinical variables. Logistic regression was undertaken to identify clinical variables predictive of reversibility. Results Only 13% of the cohort experienced reversibility of the TS, 2% without medical intervention. When stratified by reversibility, there were no significant differences in any study variables between subgroups. None of the study variables predicted reversibility in the logistic regression. Discussion Our study demonstrated a low remission rate for TS in a cohort of psychiatric and non-psychiatric patients seen in a movement disorder clinic after the offending agents were completely withdrawn. Such a finding has significant prognostic implications. It is possible that limitations of the retrospective design may have resulted in an underestimation. There is a clear need for prospective, multicenter, clinical trials in populations that can be safely withdrawn from dopamine receptor blocking agents so that true remission rates can be measured. PMID:25374768

  8. Famotidine-induced reversal of meperidine-related serotonin syndrome: a case report

    PubMed Central

    Joe, Soohyun; Park, Junyi; Lee, Dongwon; Son, Jongchul; Kim, Hyun

    2017-01-01

    Serotonin syndrome is an unexpected fatal adverse event related to serotonergic medication. This case report is the first report describing the possible treatment effect of famotidine on serotonin syndrome. Furthermore, this is the first case report of serotonin syndrome induced by meperidine alone in a patient with no previous history suggesting a susceptibility to serotonin syndrome. A 70-year-old male with no recent history of serotonergic drug use presented with severe serotonin syndrome following ureteroscopy, possibly due to postoperative meperidine administration. The patient's symptoms included hypertension, tachycardia, tachypnea, hyperthermia, myoclonus, diaphoresis, retching, nausea, agitation, and semicoma mentality with no pupillary light reflex. Symptoms began to subside immediately after the administration of intravenous famotidine for prevention of aspiration pneumonia, with mental and neurological symptoms showing improvement initially, followed by autonomic symptoms. This case report suggests that the histamine type 2 receptor antagonist famotidine may be an effective emergency treatment for serotonin syndrome. PMID:28367296

  9. Reversible posterior leukoencephalopathy syndrome and silent cerebral infarcts are associated with severe acute chest syndrome in children with sickle cell disease.

    PubMed

    Henderson, Jessica N; Noetzel, Michael J; McKinstry, Robert C; White, Desiree A; Armstrong, Melissa; DeBaun, Michael R

    2003-01-15

    Patients with severe acute chest syndrome (ACS) requiring endotracheal intubation and erythrocytopheresis are at increased risk for neurologic morbidity. This study examines patients with sickle cell disease who developed severe episodes of ACS, leading to endotracheal intubation, ventilatory support for respiratory failure, and erythrocytapheresis. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) studies, a neurologic examination by a pediatric neurologist, and cognitive testing were done in all patients. Five consecutive patients, aged 3 to 9 years, were identified with severe ACS. All patients developed neurologic complications resulting from ACS episodes, including seizures (n = 2), silent cerebral infarcts (n = 3), cerebral hemorrhage (n = 2), and reversible posterior leukoencephalopathy syndrome (n = 3). Children with severe ACS should have a magnetic resonance image of the brain, neurologic examination by a neurologist, and cognitive testing to detect the presence of neurologic morbidity.

  10. Reversal of Handedness Effects on Bimanual Coordination in Adults with Down Syndrome

    ERIC Educational Resources Information Center

    Mulvey, G. M.; Ringenbach, S. D. R.; Jung, M. L.

    2011-01-01

    Background: Research on unimanual tasks suggested that motor asymmetries between hands may be reduced in people with Down syndrome. Our study examined handedness (as assessed by hand performance) and perceptual-motor integration effects on bimanual coordination. Methods: Adults with Down syndrome (13 non-right-handed, 22 right-handed), along with…

  11. Reversal of Handedness Effects on Bimanual Coordination in Adults with Down Syndrome

    ERIC Educational Resources Information Center

    Mulvey, G. M.; Ringenbach, S. D. R.; Jung, M. L.

    2011-01-01

    Background: Research on unimanual tasks suggested that motor asymmetries between hands may be reduced in people with Down syndrome. Our study examined handedness (as assessed by hand performance) and perceptual-motor integration effects on bimanual coordination. Methods: Adults with Down syndrome (13 non-right-handed, 22 right-handed), along with…

  12. Dietary nitrite reverses features of postmenopausal metabolic syndrome induced by high-fat diet and ovariectomy in mice.

    PubMed

    Ohtake, Kazuo; Ehara, Nobuyuki; Chiba, Hiroshige; Nakano, Genya; Sonoda, Kunihiro; Ito, Junta; Uchida, Hiroyuki; Kobayashi, Jun

    2017-04-01

    Menopausal women are at greater risk of developing metabolic syndrome with reduced endothelial nitric oxide synthase (eNOS) activity. Hormone replacement therapy increases eNOS activity and normalizes some characteristics of metabolic syndrome. We hypothesized that nitric oxide (NO) supplementation should have a therapeutic effect on this syndrome. We examined the effect of dietary nitrite in a mouse model with postmenopausal metabolic syndrome induced by ovariectomy (OVX) and a high fat diet (HF). C57BL/6 female mice were divided into five groups, sham+normal fat diet (NF), sham+ HF, OVX+HF with or without sodium nitrite (50 mg and 150 mg/l) in the drinking water. Daily food intake and weekly body weight were monitored for 18 wk. OVX and HF significantly reduced plasma levels of nitrate/nitrite (NOx), and mice developed obesity with visceral hypertrophic adipocytes and increased transcriptional levels of monocyte chemoattractant protein-1, TNF-α, and IL-6 in visceral fat tissues. The proinflammatory state in the adipocytes provoked severe hepatosteatosis and insulin resistance in OVX+HF group compared with sham+NF group. However, dietary nitrite significantly suppressed adipocyte hypertrophy and transcriptions of proinflammatory cytokines in visceral fat in a dose-dependent manner. The improvement of visceral inflammatory state consequently reversed the hepatosteatosis and insulin resistance observed in OVX+HF mice. These results suggest that an endogenous NO defect might underlie postmenopausal metabolic syndrome and that dietary nitrite provides an alternative source of NO, subsequently compensating for metabolic impairments of this syndrome. Copyright © 2017 the American Physiological Society.

  13. Posterior Reversible Encephalopathy Syndrome and Fatal Cryptococcal Meningitis After Immunosuppression in a Patient With Elderly Onset Inflammatory Bowel Disease

    PubMed Central

    Vasant, Dipesh H.; Limdi, Jimmy K.; Borg-Bartolo, Simon P.; Bonington, Alec

    2016-01-01

    Advanced age and associated comorbidities are-recognized predictors of life-threatening adverse outcomes, such as opportunistic infection following immunosuppressive therapy. We describe the case of an elderly patient with stricturing colonic Crohn’s disease and significant clinical comorbidities, initially controlled with corticosteroid induction followed by infliximab, whose course was complicated by fatal disseminated cryptococcal infection and posterior reversible encephalopathy syndrome. Our patient’s case highlights rare, but serious, complications of immunosuppression. In applying modern treatment paradigms to the elderly, the clinician must consider the potential for more pronounced adverse effects in this potentially vulnerable group, maximizing benefit and minimizing harm. PMID:27807560

  14. Reversible cerebral vasoconstriction syndromes and primary angiitis of the central nervous system: clinical, imaging, and angiographic comparison.

    PubMed

    Singhal, Aneesh B; Topcuoglu, Mehmet A; Fok, Joshua W; Kursun, Oguzhan; Nogueira, Raul G; Frosch, Matthew P; Caviness, Verne S

    2016-06-01

    Reversible cerebral vasoconstriction syndromes (RCVS) and primary angiitis of the central nervous system (PACNS) are invariably considered in the differential diagnosis of new cerebral arteriopathies. However, prompt and accurate diagnosis remains challenging. Here we compared the features of 159 RCVS to 47 PACNS patients and developed criteria for prompt bedside diagnosis. Recurrent thunderclap headache (TCH), and single TCH combined with either normal neuroimaging, border zone infarcts, or vasogenic edema, have 100% positive predictive value for diagnosing RCVS or RCVS-spectrum disorders. In patients without TCH and positive angiography, neuroimaging can discriminate RCVS (no lesion) from PACNS (deep/brainstem infarcts). Ann Neurol 2016;79:882-894. © 2016 American Neurological Association.

  15. Sheehan's syndrome with reversible dilated cardiomyopathy: A case report and brief overview.

    PubMed

    Islam, A K M Monwarul; Hasnat, Mohammad A; Doza, Fatema; Jesmin, Humayra

    2014-04-01

    Sheehan's syndrome is a rare condition characterized by post-partal panhypopituitarism due to necrosis of adenohypophysis resulting from severe post-partum hemorrhage. Lethargy, amenorrhea and failure of lactation are the usual presenting features. Cardiac involvement in Sheehan's syndrome is rare. The case presented here describes dilated cardiomyopathy in a 36-year-old lady who failed to respond adequately to the standard anti-failure treatment. Further investigation revealed the diagnosis of Sheehan's syndrome. Besides other manifestations, cardiac function reverted to normal after giving replacement therapy with glucocorticoid, levothyroxine and sex hormone. Physicians, specially those in developing countries, should have high index of suspicion for the diagnosis of Sheehan's syndrome while dealing with a case of 'peripartal dilated cardiomyopathy'. Persistent amenorrhea and failure of lactation may be important clues in this context. Timely diagnosis and appropriate treatment can lessen the sufferings of the patients.

  16. Sheehan’s syndrome with reversible dilated cardiomyopathy: A case report and brief overview

    PubMed Central

    Islam, A.K.M. Monwarul; Hasnat, Mohammad A.; Doza, Fatema; Jesmin, Humayra

    2014-01-01

    Sheehan’s syndrome is a rare condition characterized by post-partal panhypopituitarism due to necrosis of adenohypophysis resulting from severe post-partum hemorrhage. Lethargy, amenorrhea and failure of lactation are the usual presenting features. Cardiac involvement in Sheehan’s syndrome is rare. The case presented here describes dilated cardiomyopathy in a 36-year-old lady who failed to respond adequately to the standard anti-failure treatment. Further investigation revealed the diagnosis of Sheehan’s syndrome. Besides other manifestations, cardiac function reverted to normal after giving replacement therapy with glucocorticoid, levothyroxine and sex hormone. Physicians, specially those in developing countries, should have high index of suspicion for the diagnosis of Sheehan’s syndrome while dealing with a case of ‘peripartal dilated cardiomyopathy’. Persistent amenorrhea and failure of lactation may be important clues in this context. Timely diagnosis and appropriate treatment can lessen the sufferings of the patients. PMID:24719543

  17. Reversible cerebral vasoconstriction syndrome (RCVS) in antiphospholipid antibody syndrome (APLA): the role of centrally acting vasodilators. Case series and review of literature.

    PubMed

    Gupta, Sarthak; Zivadinov, Robert; Ramasamy, Deepa; Ambrus, Julian L

    2014-12-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is Raynaud's phenomenon of the brain. Changes in neurological function are dependent upon which areas of the brain are deprived of normal blood flow. Antiphospholipid antibody syndrome (APLA) is a common cause of Raynaud's phenomenon that can occur anywhere in the body, including the brain. Management of CNS vasospasm generally involves the use of centrally acting calcium channel blockers, which have been shown to relieve the associated headaches and transient neurological symptoms associated with it. Three patients with APLA and RCVS from our clinics are illustrated. It is demonstrated that the use of centrally acting calcium channel-blocking drugs, such as nimodipine, which prevent and reverse CNS vasospasm, led to clinical improvement in our patients over the course of 5-9 years. All of them had MRIs done at the initiation of therapy and 5-9 years after being on therapy. MRI measures of T2 lesion volumes (LVs) and number were obtained. All three patients had a good response in controlling clinical symptoms related to CNS vasospasm, Raynaud's phenomenon, visual disturbances, confusion, headaches, and hearing loss. There was also a resolution in the MRI findings of these patients. This case series of three patients shows a clinical improvement and decrease in T2 LV and number in patients with APLA and Raynaud's syndrome on centrally acting calcium channel blockers. RCVS is much more common than that currently appreciated. APLA is the common cause of RCVS. Further studies are needed to determine the optimal methods to diagnose RCVS and optimal therapies to treat it.

  18. Posterior Reversible Encephalopathy Syndrome (PRES): Restricted Diffusion does not Necessarily Mean Irreversibility

    PubMed Central

    Wagih, Alaa; Mohsen, Laila; Rayan, Moustafa M.; Hasan, Mo’men M.; Al-Sherif, Ashraf H.

    2015-01-01

    Summary Background Restricted diffusion is the second most common atypical presentation of PRES. This has a very important implication, as lesions with cytotoxic edema may progress to infarction. Several studies suggested the role of DWI in the prediction of development of infarctions in these cases. Other studies, however, suggested that PRES is reversible even with cytotoxic patterns. Our aim was to evaluate whether every restricted diffusion in PRES is reversible and what factors affect this reversibility. Material/Methods Thirty-six patients with acute neurological symptoms suggestive of PRES were included in our study. Inclusion criteria comprised imaging features of atypical PRES where DWI images and ADC maps show restricted diffusion. Patients were imaged with 0.2-T and 1.5-T machines. FLAIR images were evaluated for the severity of the disease and a FLAIR/DWI score was used. ADC values were selectively recorded from the areas of diffusion restriction. A follow-up MRI study was carried out in all patients after 2 weeks. Patients were classified according to reversibility into: Group 1 (reversible PRES; 32 patients) and Group 2 (irreversible changes; 4 patients). The study was approved by the University’s research ethics committee, which conforms to the declaration of Helsinki. Results The age and blood pressure did not vary significantly between both groups. The total number of regions involved and the FLAIR/DWI score did not vary significantly between both groups. Individual regions did not reveal any tendency for the development of irreversible lesions. Similarly, ADC values did not reveal any significant difference between both groups. Conclusions PRES is completely reversible in the majority of patients, even with restricted diffusion. None of the variables under study could predict the reversibility of PRES lesions. It seems that this process is individual-dependent. PMID:25960819

  19. Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy.

    PubMed

    Singh, Ravinder-Jeet; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Vengalil, Seena; Prasad, Chandrajit; Nalini, Atchayaram

    2017-02-01

    Preferential involvement of C7, C8, T1 level anterior horn cells is a typical feature in Hirayama disease/brachial monomelic amyotrophy (BMMA). There are no clinico-electrophysiological studies to substantiate the peculiar pattern of muscle involvement. Thirty subjects, 10 in each group of BMMA, amyotrophic lateral sclerosis (ALS) and age-matched normal healthy subjects underwent detailed clinical and electrophysiological testing. Results showed that the mean age at evaluation for BMMA and ALS patients was 25.8 ± 3.8 and 51.8 ± 9.5 years, respectively; illness duration was 8.1 ± 5.7 years and 11.14 ± 2.85 months, respectively. Clinically, all BMMA patients had reverse of split hand (RSH) syndrome [abductor digiti minimi (ADM) affected more than abductor pollicis brevis (APB)], while 7/10 ALS patients had classical split hand syndrome (APB affected more than ADM). In BMMA, the compound muscle action potential (CMAP) of APB was preserved but reduced/absent in ADM compared to the ALS group which demonstrated reverse findings. APB/ADM ratio was >0.8 in the BMMA group (>1.4 in 80%), around 1.0 in normal controls (none had >1.4) and <0.8 in ALS (70% having values <0.6). In conclusion, RSH syndrome may provide valuable diagnostic clues to differentiate this relatively self-restricted disease from progressive degenerative disease like ALS.

  20. Characteristics of reversible and nonreversible COPD and asthma and COPD overlap syndrome patients: an analysis of salbutamol Easyhaler data

    PubMed Central

    Müller, Veronika; Gálffy, Gabriella; Orosz, Márta; Kováts, Zsuzsanna; Odler, Balázs; Selroos, Olof; Tamási, Lilla

    2016-01-01

    The choice of inhaler device for bronchodilator reversibility is crucial since suboptimal inhalation technique may influence the result. On the other hand, bronchodilator response also varies from time to time and may depend on patient characteristics. In this study, patients with airway obstruction (forced expiratory volume in 1 second [FEV1]/forced vital capacity [FVC] ratio <70% in chronic obstructive pulmonary disease [COPD]; <80% in asthma) were included (n=121, age: 57.8±17.3 years). Bronchodilator reversibility (American Thoracic Society/European Respiratory Society criteria) was tested in patients with COPD (n=63) and asthma and COPD overlap syndrome (ACOS; n=12). Forty-six asthmatics served as controls. Reversibility was tested with 400 µg salbutamol dry powder inhaler (Buventol Easyhaler, Orion Pharma Ltd, Espoo, Finland). Demographic data and patients’ perceptions of Easyhaler compared with β2-agonist pressurized metered dose inhalers (pMDIs) were analyzed. American Thoracic Society/European Respiratory Society guideline defined reversibility was found in 21 out of 63 COPD patients and in two out of 12 ACOS patients. Airway obstruction was more severe in COPD patients as compared with controls (mean FEV1 and FEV1% predicted both P<0.0001). Average response to salbutamol was significantly lower in COPD patients compared with asthma controls (P<0.0001). Reversibility was equally often found in smokers as in never-smokers (33% vs 34%). Nonreversible COPD patients had higher mean weight, body mass index, and FEV1/FVC compared with reversible COPD patients. Most patients preferred Easyhaler and defined its use as simpler and more effective than use of a pMDI. Never-smokers and patients with asthma experienced Easy-haler somewhat easier to use than smokers and patients with COPD. In conclusion, a substantial part of patients with COPD or ACOS showed reversibility to salbutamol dry powder inhaler. Nonreversible patients with COPD were characterized by

  1. Characteristics of reversible and nonreversible COPD and asthma and COPD overlap syndrome patients: an analysis of salbutamol Easyhaler data.

    PubMed

    Müller, Veronika; Gálffy, Gabriella; Orosz, Márta; Kováts, Zsuzsanna; Odler, Balázs; Selroos, Olof; Tamási, Lilla

    2016-01-01

    The choice of inhaler device for bronchodilator reversibility is crucial since suboptimal inhalation technique may influence the result. On the other hand, bronchodilator response also varies from time to time and may depend on patient characteristics. In this study, patients with airway obstruction (forced expiratory volume in 1 second [FEV1]/forced vital capacity [FVC] ratio <70% in chronic obstructive pulmonary disease [COPD]; <80% in asthma) were included (n=121, age: 57.8±17.3 years). Bronchodilator reversibility (American Thoracic Society/European Respiratory Society criteria) was tested in patients with COPD (n=63) and asthma and COPD overlap syndrome (ACOS; n=12). Forty-six asthmatics served as controls. Reversibility was tested with 400 µg salbutamol dry powder inhaler (Buventol Easyhaler, Orion Pharma Ltd, Espoo, Finland). Demographic data and patients' perceptions of Easyhaler compared with β2-agonist pressurized metered dose inhalers (pMDIs) were analyzed. American Thoracic Society/European Respiratory Society guideline defined reversibility was found in 21 out of 63 COPD patients and in two out of 12 ACOS patients. Airway obstruction was more severe in COPD patients as compared with controls (mean FEV1 and FEV1% predicted both P<0.0001). Average response to salbutamol was significantly lower in COPD patients compared with asthma controls (P<0.0001). Reversibility was equally often found in smokers as in never-smokers (33% vs 34%). Nonreversible COPD patients had higher mean weight, body mass index, and FEV1/FVC compared with reversible COPD patients. Most patients preferred Easyhaler and defined its use as simpler and more effective than use of a pMDI. Never-smokers and patients with asthma experienced Easy-haler somewhat easier to use than smokers and patients with COPD. In conclusion, a substantial part of patients with COPD or ACOS showed reversibility to salbutamol dry powder inhaler. Nonreversible patients with COPD were characterized by higher

  2. Reversal of experimental Laron Syndrome by xenotransplantation of microencapsulated porcine Sertoli cells.

    PubMed

    Luca, Giovanni; Calvitti, Mario; Mancuso, Francesca; Falabella, Giulia; Arato, Iva; Bellucci, Catia; List, Edward O; Bellezza, Enrico; Angeli, Giovanni; Lilli, Cinzia; Bodo, Maria; Becchetti, Ennio; Kopchick, John J; Cameron, Don F; Baroni, Tiziano; Calafiore, Riccardo

    2013-01-10

    Recombinant human IGF-1 currently represents the only available treatment option for the Laron Syndrome, a rare human disorder caused by defects in the gene encoding growth hormone receptor, resulting in irreversibly retarded growth. Unfortunately, this treatment therapy, poorly impacts longitudinal growth (13% in females and 19% in males), while burdening the patients with severe side effects, including hypoglycemia, in association with the unfair chore of taking multiple daily injections that cause local intense pain. In this study, we have demonstrated that a single intraperitoneal graft of microencapsulated pig Sertoli cells, producing pig insulin-like growth factor-1, successfully promoted significant proportional growth in the Laron mouse, a unique animal model of the human Laron Syndrome. These findings indicate a novel, simply, safe and successful method for the cell therapy-based cure of the Laron Syndrome, potentially applicable to humans.

  3. Reversible skeletal changes after treatment with bevacizumab in a child with cutaneovisceral angiomatosis with thrombocytopenia syndrome.

    PubMed

    Smith, Angela R; Hennessy, Jane M; Kurth, Margaret A Heisel; Nelson, Stephen C

    2008-09-01

    Cutaneovisceral angiomatosis with thrombocytopenia (CAT) syndrome is a rare vascular disorder of the skin and gastrointestinal tract for which there is no standard treatment. We present a case in which a child with CAT syndrome was treated with bevacizumab, a vascular endothelial growth factor inhibitor, and subsequently developed asymptomatic metaphyseal bone lesions. Though not previously described as a side effect, we hypothesize that the use of bevacizumab in a child with active epiphyseal growth plates caused these radiographic lesions. Because of the potential for altered bone growth and metabolism, children receiving VEGF inhibitors should be monitored closely for bony toxicity. (c) 2008 Wiley-Liss, Inc.

  4. Reversible palinopsia and the Alice in Wonderland syndrome associated with topiramate use in migraineurs.

    PubMed

    Evans, Randolph W

    2006-05-01

    Two patients are reported who developed palinopsia while taking topiramate for migraine prevention which resolved or decreased in frequency or duration on lower doses, but recurred or increased in frequency or duration on higher doses. Both patients had complete resolution of palinopsia when topiramate was discontinued. A third patient is described who developed the "Alice in Wonderland" syndrome about 1 week after starting topiramate for migraine prevention with complete resolution of symptoms about 1 month after stopping. Topiramate use may cause palinopsia and may be associated with the Alice in Wonderland syndrome through an unknown mechanism.

  5. Primary therapy for small cell lung cancer reversing the Eaton-Lambert syndrome

    SciTech Connect

    Kalter, S.; Dhingra, H.M.; Farha, P.

    1985-02-01

    A case report is presented of a patient with small cell carcinoma of the lung associated with the classic Eaton-Lambert syndrome. He received intermittent anticholinesterase therapy, with minimal improvement. Combined radiotherapy and chemotherapy for the primary neoplasm produced considerable improvement, with normal EMG findings after complete remission was achieved. 7 references, 1 table.

  6. Effects of stimulus salience on touchscreen serial reversal learning in a mouse model of fragile X syndrome

    PubMed Central

    Dickson, Price E.; Corkill, Beau; McKimm, Eric; Miller, Mellessa M.; Calton, Michele A.; Goldowitz, Daniel; Blaha, Charles D.; Mittleman, Guy

    2013-01-01

    Fragile X syndrome (FXS) is the most common inherited form of intellectual disability in males and the most common genetic cause of autism. Although executive dysfunction is consistently found in humans with FXS, evidence of executive dysfunction in Fmr1 KO mice, a mouse model of FXS, has been inconsistent. One possible explanation for this is that executive dysfunction in Fmr1 KO mice, similar to humans with FXS, is only evident when cognitive demands are high. Using touchscreen operant conditioning chambers, male Fmr1 KO mice and their male wildtype littermates were tested on the acquisition of a pairwise visual discrimination followed by four serial reversals of the response rule. We assessed reversal learning performance under two different conditions. In the first, the correct stimulus was salient and the incorrect stimulus was non-salient. In the second and more challenging condition, the incorrect stimulus was salient and the correct stimulus was non-salient; this increased cognitive load by introducing conflict between sensory-driven (i.e., bottom-up) and task-dependent (i.e., top-down) signals. Fmr1 KOs displayed two distinct impairments relative to wildtype littermates. First, Fmr1 KOs committed significantly more learning-type errors during the second reversal stage, but only under high cognitive load. Second, during the first reversal stage, Fmr1 KOs committed significantly more attempts to collect a reward during the timeout following an incorrect response. These findings indicate that Fmr1 KO mice display executive dysfunction that, in some cases, is only evident under high cognitive load. PMID:23747611

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

    PubMed

    Marji, Jackleen; O'Donoghue, Seán I; McClintock, Dayle; Satagopam, Venkata P; Schneider, Reinhard; Ratner, Desiree; Worman, Howard J; Gordon, Leslie B; Djabali, Karima

    2010-06-15

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

  8. [Posterior reversible encephalopathy syndrome of the midbrain and hypothalamus - a case report of uremic encephalopathy presenting with hypersomnia].

    PubMed

    Shiga, Yuji; Kanaya, Yuhei; Kono, Ryuhei; Takeshima, Shinichi; Shimoe, Yutaka; Kuriyama, Masaru

    2016-01-01

    We report the case of a 73-year-old woman presenting with hypersomnia and loss of appetite. She suffered from diabetic nephropathy without receiving dialysis, in addition to hypertension, which was well controlled without marked fluctuation. There were no objective neurological findings. Her laboratory findings showed renal failure with 3.7 mg/dl of serum creatinine and decreased serum sodium and potassium. Brain magnetic resonance imaging (MRI) showed posterior reversible encephalopathy syndrome (PRES) with vasogenic edema, which was distributed in the dorsal midbrain, medial thalamus, and hypothalamus. After we addressed the electrolyte imbalance and dehydration, her symptoms and MRI findings gradually improved, but faint high signals on MRI were still present 3 months later. Orexin in the cerebrospinal fluid was decreased on admission, but improved 6 months later. We diagnosed uremic encephalopathy with atypical form PRES showing functional disturbance of the hypothalamus.

  9. Posterior reversible encephalopathy syndrome in an untreated hypertensive patient after spinal surgery under general anesthesia -A case report-

    PubMed Central

    Yi, Ji Hwan; Ha, Sang Hee; Kim, Yong Kook

    2011-01-01

    Posterior reversible encephalopathy syndrome (PRES) is an unfamiliar term to anesthesiologists, and this is characterized by neurologic symptoms that include mental change, headache, seizure and visual disturbance and also abnormal neuroimaging finding. A 71-year-old female patient was operated on for posterior decompression and total laminectomy under general anesthesia for the spinal stenosis. After the operation, she developed generalized tonic-clonic seizure and a stuporous mentality in the recovery room. The magnetic resonance imaging (MRI) revealed swelling and increased signal intensity at the deep gray nuclei, cerebral cortex and cerebellum. After one week, she returned to an alert mentality and then she was diagnosed with PRES. She was discharged without any neurologic deficit on postoperative day 20. This report describes our experience with PRES after spinal surgery was performed under general anesthesia on a suspected untreated hypertensive patient. PMID:21716568

  10. Reversible posterior leukoencephalopathy syndrome in a patient with severe uremic encephalopathy.

    PubMed

    Tatsumoto, N; Fujisaki, K; Nagae, H; Ono-Fujisaki, A; Kura-Nakamura, N; Taniguchi, M; Masutani, K; Tsuruya, K; Iida, M

    2010-08-01

    A 59-year-old male presented at our hospital with disturbance of consciousness. He had severe neurological disturbances associated with uremia caused by severe renal insufficiency. Cranial computed tomography (CT) was normal on admission. FLAIR-weighted MRI showed increased signal intensities bilaterally in the cortical and subcortical areas of the occipital lobe. Repeated hemodialysis resulted in improvement of the clinical symptoms and blood chemistry, and normalization of the MRI findings. Although the patient was discharged without neurological deficit, he had to be maintained on regular intermittent hemodialysis due to persistent renal failure. These reversible neuroradiological abnormalities may have been caused by reversible brain edema, but other pathoetiological factors should be also considered, such as abnormalities of cerebral metabolism and effects of uremic toxins.

  11. Clinical spectrum and critical care management of Posterior Reversible Encephalopathy Syndrome (PRES).

    PubMed

    Striano, Pasquale; Striano, Salvatore; Tortora, Fabio; De Robertis, Edoardo; Palumbo, Daniela; Elefante, Andrea; Servillo, Giuseppe

    2005-11-01

    Posterior Reversible Encephalopathy (PRES) is characterized by acute-onset headache, altered mental status, cortical blindness and seizures, with parietal-occipital involvement. We report all cases of PRES diagnosed in our intensive care unit during the last 4 years, and evaluate their outcome in terms of the different medical treatments used. Even if usually reversible, PRES can sometimes result in death or irreversible neurological deficit, such as chronic epilepsy. From January 2001 to January 2005, we identified 8 female patients with PRES. All patients underwent basal and follow-up brain MRI. Patients referred to Epilepsy Center (about 3000 patients) were reviewed in order to identify subjects with a clinical history of PRES. These latter were clinically re-evaluated and underwent video-EEG, MRI study and neuropsychological testing. Of the 8 patients, 5 had hypertensive encephalopathy during pregnancy; 2 had eclampsia during the postpartum period; 1 patient with chronic renal failure developed symptoms after immunosuppressive treatment. In all patients but 1, neurological and radiological abnormalities resolved after appropriate treatment. In addition, we found 2 patients with temporal lobe epilepsy subsequent to a previous PRES. MRI revealed cortical-subcortical malacia in the parietal-occipital regions. The widespread use of MRI technology has made PRES familiar to many clinicians. Although PRES is reversible when treatment is instituted, delayed diagnosis and therapy can result in chronic neurological sequelae. The relationship between hypertensive encephalopathy and chronic epilepsy needs to be confirmed by longitudinal studies. Normalization of blood pressure and treatment of seizures deserves particular attention.

  12. Association of Posterior Reversible Encephalopathy Syndrome and Transient Apical Ballooning Syndrome (Takotsubo): First Case Report of a Man and Review of the Literature.

    PubMed

    Grimaldi, Stephan; Doche, Emilie; Rey, Caroline; Laksiri, Nadia; Boussen, Salah; Quilici, Jacques; Robinet, Emmanuelle; Devemy, Fabien; Pelletier, Jean

    2017-01-01

    An association of posterior reversible encephalopathy syndrome (PRES) and takotsubo is rare. We present the first case of a male patient. A 69-year-old man presented to the hospital in a persistent comatose state following a generalized tonic-clonic seizure with high blood pressure. The electrocardiogram revealed transient left bundle branch block. Troponin and BNP were elevated. Cardiac ultrasound showed large apical akinesia with altered left ventricular ejection fraction, and the left ventriculogram showed characteristic regional wall motion abnormalities involving the mid and apical segments. Brain MRI showed bilateral, cortical, and subcortical vasogenic edema predominant in the posterior right hemisphere. The lumbar puncture and cerebral angiography were normal. Paraclinical abnormalities were reversible within 2 weeks with a clinical recovery in 3 months, confirming the takotsubo and the PRES diagnoses. Several theories hypothesize the underlying pathophysiology of takotsubo or PRES. Circulating catecholamines are up to 3 times higher in patients with takotsubo causing impaired microcirculation and apical hypokinesia. An association of both takotsubo and asthma crisis and PRES and asthma crisis underlines the role of catecholamines in the occurrence of these disorders. Early recognition of this rare association, in which heart and neurological damage may require rapid intensive care support, is needed.

  13. Adipocyte Dynamics and Reversible Metabolic Syndrome in Mice with an Inducible Adipocyte-Specific Deletion of the Insulin Receptor.

    PubMed

    Sakaguchi, Masaji; Fujisaka, Shiho; Cai, Weikang; Winnay, Jonathon N; Konishi, Masahiro; O'Neill, Brian T; Li, Mengyao; García-Martín, Rubén; Takahashi, Hirokazu; Hu, Jiang; Kulkarni, Rohit N; Kahn, C Ronald

    2017-02-07

    Insulin and IGF1 signaling are important for adipose tissue development and function; however, their role in mature adipocytes is unclear. Mice with a tamoxifen-inducible knockout of insulin and/or IGF1 receptors (IR/IGF1R) demonstrate a rapid loss of white and brown fat due to increased lipolysis and adipocyte apoptosis. This results in insulin resistance, glucose intolerance, hepatosteatosis, islet hyperplasia with hyperinsulinemia, and cold intolerance. This phenotype, however, resolves over 10-30 days due to a proliferation of preadipocytes and rapid regeneration of both brown and white adipocytes as identified by mTmG lineage tracing. This cycle can be repeated with a second round of receptor inactivation. Leptin administration prior to tamoxifen treatment blocks development of the metabolic syndrome without affecting adipocyte loss or regeneration. Thus, IR is critical in adipocyte maintenance, and this loss of adipose tissue stimulates regeneration of brown/white fat and reversal of metabolic syndrome associated with fat loss. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis.

    PubMed

    Langwińska-Wośko, Ewa; Broniek-Kowalik, Karina; Szulborski, Kamil

    2012-04-01

    Wolfram syndrome (WFS), or DIDMOAD, is a rare (1/100 000 to 1/770 000), progressive neurodegenerative disorder. In its early stages, it is characterized by insulin-dependent diabetes mellitus, optic atrophy and loss of sensorineural hearing-this is followed by diabetes insipidus, progressive neurological abnormalities and other endocrine abnormalities, which occur in later years. The aim of this study was to report on the clinical and electrophysiological findings from a family with the WFS1 mutation. The five family members were subjected to a complete ophthalmic examination, which included a flash full-field electroretinogram and pattern-reversal visual evoked potentials (PVEPs) performed according to ISCEV standards. Optic atrophy was confirmed in two homozygotic patients, where P100 latencies were significantly delayed-up to 146 ms in PVEP. P100 latencies were normal in the three heterozygotic patients we examined. Curve morphology abnormalities were observed in all five patients we examined. No literature describing the morphology of PVEP in Wolfram syndrome patients was found. In flash electroretinography, scotopic and photopic responses appeared in normal morphology and value. Diabetic retinopathy was not observed in the diabetes mellitus patients.

  15. [Reversible cerebral vasoconstriction syndrome with cortical subarachnoid hemorrhage presenting as thunderclap headache-a long followed up case].

    PubMed

    Ogura, Aya; Suzuki, Junichiro; Imai, Kazunori; Nishida, Suguru; Kato, Takashi; Yasuda, Takeshi; Ito, Yasuhiro

    2013-01-01

    A 59-year-old woman presented with thunderclap headache. Cranial CT showed cortical subarachnoid hemorrhage (cSAH) at the right parietal lobe and cerebral angiography on day 5 revealed multiple cerebral arterial constriction, diagnosed as reversible cerebral vasoconstriction syndrome (RCVS). We could not detect vasoconstriction in MRA at the first examination on day 4, and vasoconstrictive finding appeared around Willis circle 8 days later. There was a temporal difference in a cephalalgic symptom and vasoconstrictive appearance. Clinical symptoms completely recovered and head CT, MRI/MRA findings were reversible after two months, reflecting a rather good RCVS outcome. However, we also followed up this case precisely using single photon emission computed tomography (SPECT) with easy Z-score imaging system (e-ZIS), and hypoperfusion at the locus of cSAH persisted for more than one year. This finding strongly suggests that tissue damage in the cSAH locus induced by RCVS may be subclinicaly irreversible, even though clinical symptoms and abnormalities in cranial MRI and MRA completely recover.SPECT may be a high sensitive technique to detect the irreversible lesion in RCVS.

  16. Posterior SMA Syndrome following subcortical stroke: contralateral akinesia reversed by visual feedback.

    PubMed

    Radman, Narges; Cacioppo, Stephanie; Spierer, Lucas; Schmidlin, Eric; Mayer, Eugène; Annoni, Jean-Marie

    2013-11-01

    The supplementary motor area (SMA) plays a key role in motor programming and production and is involved in internally-cued movements. In neurological populations, SMA syndrome following a lesion to the "SMA proper" is characterized by transient impairment of voluntary movements and motor sequences. This syndrome is assumed to follow on from an interruption of the motor cortico-subcortical loop, and some case reports indicate that such a syndrome could occur after a brain lesion isolating the SMA from subcortical structures. To characterize the pattern of motor impairments in a patient whose stroke disconnects the SMA from the subcortical motor loop. A patient developed a moderate transient left hemiparesis following a subcortical stroke in the right anterior cerebral artery area, which disconnected the SMA from basal ganglia. Eight days after the stroke, when the hemiparesis had regressed, the patient presented a specific SMA motor disorder of the left hand which manifested as an akinesia and was exacerbated when his visual attention was not directed towards his hand. We assessed finger tapping with left and right hands, eyes closed and open, in the left and right hemispace. We indexed movement speed as the number of taps filmed over 5-s periods. Left motor weakness (grasping strength of right hand: 49 kg and left hand: 41 kg) was resolved in a week. Ideomotor and ideational gestures and motor sequences were preserved. On the tapping task, left-hand tapping was slower than right-hand tapping. Critically, visual feedback improved tapping speed for the left, but not for the right, hand. The hemispace of the task execution had no effect on tapping performance. Our results suggest that SMA-basal ganglia disconnection decreases contralateral movement initiation and maintenance and this effect is partly compensated by visual cues. Copyright © 2013 Elsevier Ltd. All rights reserved.

  17. Unique combination of hyperintense vessel sign on initial FLAIR and delayed vasoconstriction on MRA in reversible cerebral vasoconstriction syndrome: a case report.

    PubMed

    Kameda, Tomoaki; Namekawa, Michito; Shimazaki, Haruo; Minakata, Daisuke; Matsuura, Tohru; Nakano, Imaharu

    2014-11-01

    Reversible cerebral vasoconstriction syndrome is characterized by thunderclap headache and reversible cerebral vasoconstriction on angiographic findings. It can be difficult to diagnose when initial angiography is normal. A 30-year-old woman was admitted because of sudden-onset thunderclap headache and seizure on postpartum day 7. Brain MRI on fluid-attenuated inversion recovery (FLAIR) showed hyperintense vessel sign (HVS), which usually means slow flow due to severe proximal arterial stenosis. However, magnetic resonance angiography (MRA) indicated that proximal arteries was normal. After nicardipine treatment, her symptoms improved dramatically. Follow-up FLAIR on day 7 showed complete resolution of HVS, while a series of MRAs revealed reversible multifocal segmental vasoconstriction. HVS on initial FLAIR is useful for an early diagnosis of reversible cerebral vasoconstriction syndrome. As the delayed vasoconstriction on MRA can be observed, reversible cerebral vasoconstriction syndrome may progress from distal small to proximal larger arteries. © International Headache Society 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  18. rqh1+, a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S phase arrest.

    PubMed Central

    Stewart, E; Chapman, C R; Al-Khodairy, F; Carr, A M; Enoch, T

    1997-01-01

    In eukaryotic cells, S phase can be reversibly arrested by drugs that inhibit DNA synthesis or DNA damage. Here we show that recovery from such treatments is under genetic control and is defective in fission yeast rqh1 mutants. rqh1+, previously known as hus2+, encodes a putative DNA helicase related to the Escherichia coli RecQ helicase, with particular homology to the gene products of the human BLM and WRN genes and the Saccharomyces cerevisiae SGS1 gene. BLM and WRN are mutated in patients with Bloom's syndrome and Werner's syndrome respectively. Both syndromes are associated with genomic instability and cancer susceptibility. We show that, like BLM and SGS1, rqh1+ is required to prevent recombination and that in fission yeast suppression of inappropriate recombination is essential for reversible S phase arrest. PMID:9184215

  19. The pusher syndrome reverses the orienting bias caused by spatial neglect.

    PubMed

    Honoré, Jacques; Saj, Arnaud; Bernati, Thérèse; Rousseaux, Marc

    2009-02-01

    Spatial neglect can be accompanied by a pusher syndrome (PS) which is characterized by a postural deviation towards the contralesional side. In this study, the representation of the body orientation in the horizontal plane was evaluated in neglect patients with and without PS. The participants had to align a luminous rod with the straight ahead direction, a method allowing the measure of both horizontal components of subjective straight ahead, i.e. lateral shift and yaw rotation. Eighteen patients with a lesion of the right hemisphere were compared with ten healthy participants. Patients had neglect and PS (P+N+; n=3), neglect only (P-N+; n=10), or neither neglect nor PS (P-N-; n=5). P+N+ patients showed a significant leftward shift contrasting with the rightward shift of P-N+. No shift occurred in patients without neglect and controls. No significant yaw error was recorded in any groups. The original result of this study was an inversion of the sign of the bias in neglect patients with PS. This could be related to the postural disorders characterizing this syndrome, and which are opposite to those usually observed in spatial neglect. Thus, these data suggest a link between disorders of spatial representations and disorders of posture.

  20. Reversible Myocarditis and Pericarditis after Black Widow Spider Bite or Kounis Syndrome?

    PubMed

    Yaman, Mehmet; Mete, Turkan; Ozer, Ismail; Yaman, Elif; Beton, Osman

    2015-01-01

    Clinical manifestation of black widow spider bite is variable and occasionally leads to death in rural areas. Cases of myocarditis and pericarditis after black widow spider bite are rare and the associated prognostic significance is unknown. Kounis syndrome has been defined as an acute coronary syndrome in the setting of allergic or hypersensitivity and anaphylactic or anaphylactoid insults that manifests as vasospastic angina or acute myocardial infarction or stent thrombosis. Allergic myocarditis is caused by myocardial inflammation triggered by infectious pathogens, toxic, ischemic, or mechanical injuries, such as drug-related inflammation and other immune reactions. A 15-year-old child was admitted to the emergency department with pulmonary edema after spider bite. ST segment depression on ECG, elevated cardiac enzymes and global left ventricular hypokinesia (with ejection fraction of 22%), and local pericardial effusion findings confirmed the diagnosis of myopericarditis. After heart failure and pulmonary edema oriented medical therapy, clinical status improved. Patient showed a progressive improvement and LV functions returned to normal on the sixth day. Myopericarditis complicating spider bite is rare and sometimes fatal. The mechanism is not clearly known. Alpha-latrotoxin of the black widow spider is mostly convicted in these cases. But allergy or hypersensitivity may play a role in myocardial damage.

  1. High-resolution MRI vessel wall imaging: spatial and temporal patterns of reversible cerebral vasoconstriction syndrome and central nervous system vasculitis.

    PubMed

    Obusez, E C; Hui, F; Hajj-Ali, R A; Cerejo, R; Calabrese, L H; Hammad, T; Jones, S E

    2014-08-01

    High-resolution MR imaging is an emerging tool for evaluating intracranial artery disease. It has an advantage of defining vessel wall characteristics of intracranial vascular diseases. We investigated high-resolution MR imaging arterial wall characteristics of CNS vasculitis and reversible cerebral vasoconstriction syndrome to determine wall pattern changes during a follow-up period. We retrospectively reviewed 3T-high-resolution MR imaging vessel wall studies performed on 26 patients with a confirmed diagnosis of CNS vasculitis and reversible cerebral vasoconstriction syndrome during a follow-up period. Vessel wall imaging protocol included black-blood contrast-enhanced T1-weighted sequences with fat suppression and a saturation band, and time-of-flight MRA of the circle of Willis. Vessel wall characteristics including enhancement, wall thickening, and lumen narrowing were collected. Thirteen patients with CNS vasculitis and 13 patients with reversible cerebral vasoconstriction syndrome were included. In the CNS vasculitis group, 9 patients showed smooth, concentric wall enhancement and thickening; 3 patients had smooth, eccentric wall enhancement and thickening; and 1 patient was without wall enhancement and thickening. Six of 13 patients had follow-up imaging; 4 patients showed stable smooth, concentric enhancement and thickening; and 2 patients had resoluton of initial imaging findings. In the reversible cerebral vasoconstriction syndrome group, 10 patients showed diffuse, uniform wall thickening with negligible-to-mild enhancement. Nine patients had follow-up imaging, with 8 patients showing complete resolution of the initial findings. Postgadolinium 3T-high-resolution MR imaging appears to be a feasible tool in differentiating vessel wall patterns of CNS vasculitis and reversible cerebral vasoconstriction syndrome changes during a follow-up period. © 2014 by American Journal of Neuroradiology.

  2. Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome.

    PubMed

    Rezazadeh, Saman; Guo, Jiqing; Duff, Henry J; Ferrier, Raechel A; Gerull, Brenda

    2016-12-01

    Andersen-Tawil syndrome (ATS) is caused by mutations in KCNJ2 (Kir2.1). It remains unclear whether dilated cardiomyopathy (DCM) is a primary feature of ATS. We studied a proband with typical physical features of ATS plus DCM and moderate to severe left ventricular dysfunction (left ventricular ejection fraction = 30.5%). Genetic screening revealed a novel mutation in Kir2.1 (c.665T>C, p.L222S). Functional studies showed that this mutation reduced ionic currents in a dominant-negative manner. Suppression of ventricular arrhythmias with bisoprolol led to normalization of left ventricular size and function. We conclude that DCM is likely a secondary phenotype in ATS and is caused by high ventricular arrhythmia burden.

  3. Posterior leukoencephalopathy syndrome as a cause of reversible blindness during pregnancy.

    PubMed

    Onderoglu, Lutfu S; Dursun, Polat; Gultekin, Murat; Celik, Nilufer Y

    2007-08-01

    Cortical blindness is a rare and dramatic complication of pre-eclampsia. The precise nature of the pathogenesis of this condition has not previously been understood. Three preeclamptic patients with unremarkable previous medical history presented with acute blindness between the 28th and 33rd weeks of pregnancy. They were all diagnosed as posterior leukoencephalopathy syndrome (PLES). In all these patients, MRI study revealed the typical feature of gray-white matter edema localized to the temporo-parieto-occipital areas. Vision and MRI findings were restored in all patients after delivery. Although PLES has been described as a puerperal clinicoradiologic entity, it may be seen in preeclamptic-eclamptic patients during the pregnancy. Therefore neuro-imaging studies should be carried out in pregnant patients with visual disturbances in order to exclude PLES. Prompt diagnosis, immediate control of blood pressure, and elimination of possible causes resolves clinical and imaging findings.

  4. [Obesity hypoventilation syndrome--serious but reversible providing weight is lost].

    PubMed

    Gaytant, Michael A; Westermann, Erik J A; Zelissen, Pierre M J; Kampelmacher, Mike J

    2011-01-01

    Obesity hypoventilation syndrome (OHS) is a condition in which obesity and chronic hypoventilation during waking hours are combined. Patients with OHS are more likely to be hospitalized and to require intensive-care monitoring compared with patients with similar degrees of obesity without hypoventilation. Treatment with chronic non-invasive positive pressure ventilation (NPPV) is associated with a lower morbidity and mortality. We present 2 cases of OHS; in the first case, a 56-year-old woman, we show that it is very important to diagnose and treat OHS at an early stage in order to avoid severe morbidity. In the second case, a 31-year-old man, we show that if a patient with OHS and chronic NPPV looses a significant amount of weight NPPV can be discontinued. Patients with OHS should be treated in a multidisciplinary team in order to achieve significant weight loss, so NPPV could be a temporary treatment or even be avoided.

  5. Guillain-Barré syndrome mimicking brain death pattern: a poorly reversible condition.

    PubMed

    Bernard, Violaine; Van Pesch, Vincent; Hantson, Philippe

    2010-03-01

    A 73-year-old man developed a fulminant form of Guillain-Barrd syndrome with abolition of brainstem reflexes. Antibodies to GQ1b were positive (1:180). The clinical findings mimicked a "brain death" pattern for a period of 12 days. In contrast, the EEG showed remaining cerebral electrical activity. Brainstem auditory evoked potentials, long-latency auditory potentials and flash-evoked visual potentials were normal. However, no peripheral and cortical somatosensory evoked potentials could be elicited. Accordingly, nerve conduction studies were indicative of motor and sensory axonal neuropathy. After 5 months, the patient had no apparent cognitive deficit but was still quadriplegic and dependent from the mechanical ventilation. He died on day 158 from nosocomial infection, without motor recovery. Other published cases with a similar admission pattern were reviewed. The prognosis is usually very poor; as most of the patients died or remained severely disabled.

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

    PubMed

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

    2000-01-01

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

  7. Structural characterization of reverse transcriptase and endonuclease polypeptides of the acquired immunodeficiency syndrome retrovirus.

    PubMed Central

    Lightfoote, M M; Coligan, J E; Folks, T M; Fauci, A S; Martin, M A; Venkatesan, S

    1986-01-01

    Automated N-terminal microsequencing of immune affinity-purified acquired immunodeficiency syndrome retrovirus polypeptides from infected cells was used to locate the N termini of 64-, 51-, and 34-kilodalton (kDa) polypeptides within the pol open reading frame (ORF) of the proviral DNA. The 64- and 51-kDa proteins had identical N termini (Pro-Ile-Ser-Pro-IIe-Glu-Thr-Val-) positioned 156 residues from the beginning of the pol ORF. The N terminus of the 34-kDa pol gene product, Phe-Leu-Asp-Gly-Ile-Asp-Lys-, mapped 716 residues into the pol ORF. These polypeptides were absent in an RT-negative, CD4-negative, persistently infected cell line (8E5) carrying a single defective copy of a constitutively expressed, integrated proviral DNA. Images PMID:2430111

  8. [The neuroscientific work of Justo Gonzalo (1910-1986): the center syndrome and reversal metamorphopsia].

    PubMed

    Arias, M; Gonzalo, I

    2004-10-01

    The Spanish neuroscientist Justo Gonzalo Rodriguez-Leal (Barcelona 1910, Madrid 1986) carried out different studies on cerebral functions, highlighting those made in patients with encephalic injuries suffered during the Spanish civil war. His book "Investigaciones sobre la nueva dinámica cerebral. La actividad cerebral en función de las condiciones de excitabilidad nerviosa", published in two volumes (the first one in 1945 and the second one five years later), gathers some of his fundamental contributions, among which the so-called central syndrome stands out. A dominant parietal lesion (central) equidistant from the visual, sensorial and auditory projection areas can lead to diverse perceptive dysfunctions, among them inversions in visual, tactile and acoustic perception. As the lesion becomes more peripheral, the resulting defect will be more unisensorial and crossed, while when it approaches the central region, the disorders will be bilateral and polysensorial. Justo Gonzalo explained all these phenomena later by a gradient system.

  9. Enhanced antisaccade abilities in children with Tourette syndrome: the Gap-effect Reversal

    PubMed Central

    Tajik-Parvinchi, Diana J.; Sandor, Paul

    2013-01-01

    Tourette Syndrome (TS) is a childhood onset disorder of motor and vocal tics. The neural networks underlying TS overlap with those of saccade eye movements. Thus, deviations on saccadic tasks can provide important information about psychopathology of TS. Tourette syndrome often coexists with Attention Deficit Hyperactivity Disorder (ADHD) and Obsessive Compulsive Disorder (OCD). Hence, we manipulated various components of a saccade task to measure its effects on saccades of children with TS-only, TS+ADHD, TS+ADHD+OCD and healthy controls. Children looked toward (prosaccade) or in the opposite direction (antisaccade) of a peripheral target as soon as it appeared. The prosaccade and antisaccade tasks were presented in three conditions. In the Gap200 condition, the fixation dot disappeared 200 ms prior to the appearance of the peripheral target, In the Gap800 condition, the fixation dot disappeared 800 ms prior to the appearance of the peripheral target and in Overlap200 the fixation dot disappeared 200 ms after the appearance of the peripheral target. Fixation-offset manipulations had different effects on each group's antisaccades. The TS+ADHD+OCD group's antisaccade latencies and error rates remained relatively unchanged in the three conditions and displayed a pattern of eye movements that can be interpreted as enhanced. Alternatively, the TS+ADHD group displayed an overall pattern of longer saccadic latencies. Findings corroborate the hypothesis that the combination of tic disorder and ADHD results in unique behavioral profiles. It is plausible that a subgroup of children with TS develop an adaptive ability to control their tics which generalizes to enhanced volitional control of saccadic behavior as well. Supporting evidence and other findings are discussed. PMID:24312038

  10. 'Luxury perfusion syndrome' in a patient with reversible ischemic neurological deficits.

    PubMed

    Banzo, J; Morales, F; Abós, M D; Pascual, L F; Prats, E; Teijeiro, J

    1983-01-01

    A 28-year-old man was admitted to the hospital with difficulty in speech and motor weakness of the right arm of sudden onset. Twelve years previously a grade I oligodendroglioma had been removed. The CT scan showed a low density area without enhancement in the left frontal region that appeared to communicate with the left lateral ventricle. An increased flow through the left middle cerebral-artery and a focal avascular area in the left hemisphere was noted during a dynamic study by angioscintigraphy. A radionuclide cerebral control study showed reduced flow through the left middle cerebral artery. The patient was discharged 25 days after admission with the diagnosis of (1) reversible ischemic neurological deficits associated a hyperperfusion and (2) porencephaly.

  11. Reversible acquired epileptic frontal syndrome and CSWS suppression in a child with congenital hemiparesis treated by hemispherotomy.

    PubMed

    Kallay, Christine; Mayor-Dubois, Claire; Maeder-Ingvar, Malin; Seeck, Margritta; Debatisse, Damien; Deonna, Thierry; Roulet-Perez, Eliane

    2009-09-01

    A boy with a right congenital hemiparesis due to a left pre-natal middle cerebral artery infarct developed focal epilepsy at 33 months and then an insidious and subsequently more rapid, massive cognitive and behavioural regression with a frontal syndrome between the ages of 4 and 5 years with continuous spike-waves during sleep (CSWS) on the EEG. Both the epilepsy and the CSWS were immediately suppressed by hemispherotomy at the age of 5 years and 4 months. A behavioural-cognitive follow-up prior to hemispherotomy, an per-operative EEG and corticography and serial post-operative neuropsychological assessments were performed until the age of 11 years. The spread of the epileptic activity to the "healthy" frontal region was the cause of the reversible frontal syndrome. A later gradual long-term but incomplete cognitive recovery, with moderate mental disability was documented. This outcome is probably explained by another facet of the epilepsy, namely the structural effects of prolonged epileptic discharges in rapidly developing cerebral networks which are, at the same time undergoing the reorganization imposed by a unilateral early hemispheric lesion. Group studies on the outcome of children before and after hemispherectomy using only single IQ measures, pre- and post-operatively, may miss particular epileptic cognitive dysfunctions as they are likely to be different from case to case. Such detailed and rarely available complementary clinical and EEG data obtained in a single case at different time periods in relation to the epilepsy, including per-operative electrophysiological findings, may help to understand the different cognitive deficits and recovery profiles and the limits of full cognitive recovery.

  12. Modulation of RhoGTPases improves the behavioral phenotype and reverses astrocytic deficits in a mouse model of Rett syndrome.

    PubMed

    De Filippis, Bianca; Fabbri, Alessia; Simone, Daiana; Canese, Rossella; Ricceri, Laura; Malchiodi-Albedi, Fiorella; Laviola, Giovanni; Fiorentini, Carla

    2012-04-01

    RhoGTPases are crucial molecules in neuronal plasticity and cognition, as confirmed by their role in non-syndromic mental retardation. Activation of brain RhoGTPases by the bacterial cytotoxic necrotizing factor 1 (CNF1) reshapes the actin cytoskeleton and enhances neurotransmission and synaptic plasticity in mouse brains. We evaluated the effects of a single CNF1 intracerebroventricular inoculation in a mouse model of Rett syndrome (RTT), a rare neurodevelopmental disorder and a genetic cause of mental retardation, for which no effective therapy is available. Fully symptomatic MeCP2-308 male mice were evaluated in a battery of tests specifically tailored to detect RTT-related impairments. At the end of behavioral testing, brain sections were immunohistochemically characterized. Magnetic resonance imaging and spectroscopy (MRS) were also applied to assess morphological and metabolic brain changes. The CNF1 administration markedly improved the behavioral phenotype of MeCP2-308 mice. CNF1 also dramatically reversed the evident signs of atrophy in astrocytes of mutant mice and restored wt-like levels of this cell population. A partial rescue of the overexpression of IL-6 cytokine was also observed in RTT brains. CNF1-induced brain metabolic changes detected by MRS analysis involved markers of glial integrity and bioenergetics, and point to improved mitochondria functionality in CNF1-treated mice. These results clearly indicate that modulation of brain RhoGTPases by CNF1 may constitute a totally innovative therapeutic approach for RTT and, possibly, for other disorders associated with mental retardation.

  13. Systemic adiponectin treatment reverses polycystic ovary syndrome-like features in an animal model.

    PubMed

    Singh, Anusha; Bora, Puran; Krishna, Amitabh

    2017-09-15

    The present study examined the efficacy of adiponectin for regulating the reproductive, metabolic and fertility status of mice with polycystic ovary syndrome (PCOS). PCOS was induced in prepubertal (21- to 22-day-old) mice using dehydroepiandrosterone (6mg 100g-1day-1 for 25days), after which mice were administered either a low or high dose of adiponectin (5 or 15µgmL-1, s.c., respectively). PCOS mice exhibited typical features, including the presence of numerous cystic follicles, increased circulating androgens, increased body mass, altered steroidogenesis, decreased insulin receptor expression and increased serum triglycerides, serum glucose, Toll-like receptor (TLR)-4 (a marker of inflammation) and vascular endothelial growth factor (VEGF; a marker of angiogenesis). These parameters were significantly correlated with a reduction in adiponectin in PCOS mice compared with vehicle-treated control mice. Exogenous adiponectin treatment of PCOS mice restored body mass and circulating androgen, triglyceride and glucose levels. Adiponectin also restored ovarian expression of steroidogenic markers (LH receptors, steroidogenic acute regulatory protein and 3β-hydroxysteroid dehydrogenase), insulin receptor, TLR-4 and VEGF levels in control mice. Adiponectin restored ovulation in PCOS mice, as indicated by the presence of a corpus luteum and attainment of pregnancy. These findings suggest that adiponectin effectively facilitates fertility in anovulatory PCOS. We hypothesise that systemic adiponectin treatment may be a promising therapeutic strategy for the management of PCOS.

  14. Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.

    PubMed

    Cao, Kan; Graziotto, John J; Blair, Cecilia D; Mazzulli, Joseph R; Erdos, Michael R; Krainc, Dimitri; Collins, Francis S

    2011-06-29

    Hutchinson-Gilford progeria syndrome (HGPS) is a lethal genetic disorder characterized by premature aging. HGPS is most commonly caused by a de novo single-nucleotide substitution in the lamin A/C gene (LMNA) that partially activates a cryptic splice donor site in exon 11, producing an abnormal lamin A protein termed progerin. Accumulation of progerin in dividing cells adversely affects the integrity of the nuclear scaffold and leads to nuclear blebbing in cultured cells. Progerin is also produced in normal cells, increasing in abundance as senescence approaches. Here, we report the effect of rapamycin, a macrolide antibiotic that has been implicated in slowing cellular and organismal aging, on the cellular phenotypes of HGPS fibroblasts. Treatment with rapamycin abolished nuclear blebbing, delayed the onset of cellular senescence, and enhanced the degradation of progerin in HGPS cells. Rapamycin also decreased the formation of insoluble progerin aggregates and induced clearance through autophagic mechanisms in normal fibroblasts. Our findings suggest an additional mechanism for the beneficial effects of rapamycin on longevity and encourage the hypothesis that rapamycin treatment could provide clinical benefit for children with HGPS.

  15. Reversible cerebral vasoconstriction syndrome with increased intracranial pressure, probably related to altitude changes and windy winter travelling.

    PubMed

    Tienviboon, Chaitawat; Punyagupta, Sompone; Pongtarakulpanit, Anon; Prichanond, Surawut

    2011-05-01

    Reversible cerebral vasoconstriction syndrome (RCVS) has reversible multifocal narrowing of the cerebral arteries. Respiratory alkalosis in high altitude studies cause impairment of the central nervous system, presumably by cerebral vasoconstriction. A 54 year-old woman presented with a 1-week of throbbing headache around her forehead while travelling in moderately high altitude, during a windy winter. Sudden severe headache had progressed and developed bilateral lower visual fields defect along with mild weakness of her right leg on the next day. Magnetic resonance (MR) imaging revealed acute ischemic process at both occipital, parasagittal left parietal and right frontal area. MR venography was negative but MR angiography showed multifocal narrowing of both anterior and posterior circulations. Lumbar puncture revealed the opening pressure of 240 mmH2O but normal CSF profiles. Blood tests, including complete blood count, protein C, protein S, antithrombin III, high-sensitivity C-reactive protein, immunologic and antibody profiles were normal. Dexamethasone and low-molecular weight heparin were given because the intracranial vasculitis and cerebral venous thrombosis could not be ruled out. Visual fields and right leg problems had fully recovered on the second day and second week respectively. Prednisolone was discontinued at the fourth week. MR imaging and MR angiography were repeated in the sixteenth week and revealed old infarction at the left posterior parietal area but narrowing segment of arterial systems were no longer seen. There were a few previous reported cases of RCVS in Asian counties. The authors proposed that altitude changes from travelling to the moderately high altitude and cold windy winter weather were the predisposing factors for the attack of RCVS.

  16. Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome.

    PubMed

    Kedlaya, Rajendra; Veera, Shreya; Horan, Daniel J; Moss, Rachel E; Ayturk, Ugur M; Jacobsen, Christina M; Bowen, Margot E; Paszty, Chris; Warman, Matthew L; Robling, Alexander G

    2013-11-13

    Osteoporosis pseudoglioma syndrome (OPPG) is a rare genetic disease that produces debilitating effects in the skeleton. OPPG is caused by mutations in LRP5, a WNT co-receptor that mediates osteoblast activity. WNT signaling through LRP5, and also through the closely related receptor LRP6, is inhibited by the protein sclerostin (SOST). It is unclear whether OPPG patients might benefit from the anabolic action of sclerostin neutralization therapy (an approach currently being pursued in clinical trials for postmenopausal osteoporosis) in light of their LRP5 deficiency and consequent osteoblast impairment. To assess whether loss of sclerostin is anabolic in OPPG, we measured bone properties in a mouse model of OPPG (Lrp5(-/-)), a mouse model of sclerosteosis (Sost(-/-)), and in mice with both genes knocked out (Lrp5(-/-);Sost(-/-)). Lrp5(-/-);Sost(-/-) mice have larger, denser, and stronger bones than do Lrp5(-/-) mice, indicating that SOST deficiency can improve bone properties via pathways that do not require LRP5. Next, we determined whether the anabolic effects of sclerostin depletion in Lrp5(-/-) mice are retained in adult mice by treating 17-week-old Lrp5(-/-) mice with a sclerostin antibody for 3 weeks. Lrp5(+/+) and Lrp5(-/-) mice each exhibited osteoanabolic responses to antibody therapy, as indicated by increased bone mineral density, content, and formation rates. Collectively, our data show that inhibiting sclerostin can improve bone mass whether LRP5 is present or not. In the absence of LRP5, the anabolic effects of SOST depletion can occur via other receptors (such as LRP4/6). Regardless of the mechanism, our results suggest that humans with OPPG might benefit from sclerostin neutralization therapies.

  17. Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome

    PubMed Central

    Torene, Rebecca; Nirmala, Nanguneri; Obici, Laura; Cattalini, Marco; Tormey, Vincent; Caorsi, Roberta; Starck-Schwertz, Sandrine; Letzkus, Martin; Hartmann, Nicole; Abrams, Ken; Lachmann, Helen; Gattorno, Marco

    2017-01-01

    Objective To explore whether gene expression profiling can identify a molecular mechanism for the clinical benefit of canakinumab treatment in patents with tumour necrosis factor receptor-associated periodic syndrome (TRAPS). Methods Blood samples were collected from 20 patients with active TRAPS who received canakinumab 150 mg every 4 weeks for 4 months in an open-label proof-of-concept phase II study, and from 20 aged-matched healthy volunteers. Gene expression levels were evaluated in whole blood samples by microarray analysis for arrays passing quality control checks. Results Patients with TRAPS exhibited a gene expression signature in blood that differed from that in healthy volunteers. Upon treatment with canakinumab, many genes relevant to disease pathogenesis moved towards levels seen in the healthy volunteers. Canakinumab downregulated the TRAPS-causing gene (TNF super family receptor 1A (TNFRSF1A)), the drug-target gene (interleukin (IL)-1B) and other inflammation-related genes (eg, MAPK14). In addition, several inflammation-related pathways were evident among the differentially expressed genes. Canakinumab treatment reduced neutrophil counts, but the observed expression differences remained after correction for this. Conclusions These gene expression data support a model in which canakinumab produces clinical benefit in TRAPS by increasing neutrophil apoptosis and reducing pro-inflammatory signals resulting from the inhibition of IL-1β. Notably, treatment normalised the overexpression of TNFRSF1A, suggesting that canakinumab has a direct impact on the main pathogenic mechanism in TRAPS. Trial registration number NCT01242813. PMID:27474763

  18. Delayed onset of posterior reversible encephalopathy syndrome in a case of scleroderma renal crisis with maintenance hemodialysis

    PubMed Central

    Chen, Ching-Yang; Hung, Shin-Yuan; Lee, Yi-Jer; Lin, Yi-Chan; Pai, Chu-Cheng

    2016-01-01

    Abstract Introduction: In some cases, scleroderma renal crisis (SRC) is not easily distinguishable from other thrombotic microangiopathies such as thrombotic thrombocytopenic purpura, especially when the presentation includes neurological or extra-renal manifestations. Here, we present a case of SRC who developed a rare neurotoxic complication, posterior reversible encephalopathy syndrome (PRES). A 36-year-old man with a history of diffuse cutaneous systemic sclerosis developed SRC and acute-on-chronic renal failure and ultimately required maintenance hemodialysis. Three weeks after starting hemodialysis, the patient presented with confusion and a new-onset seizure disorder. Laboratory examinations revealed thrombocytopenia, a low haptoglobin level, and schizocytes on a blood smear. SRC-related PRES was considered first after PRES was confirmed by brain magnetic resonance imaging. Antihypertensive therapy comprising captopril and amlodipine was administered, and the patient experienced a complete neurological recovery 3 days later without plasma exchange. In all previously reported cases of SRC-associated PRES, PRES developed before hemodialysis. Our report is, therefore, the first to describe a case of onset of SRC-related PRES 3 weeks after the initiation of maintenance hemodialysis. Conclusion: This case demonstrates that microangiopathy and extra-renal manifestations can develop even in SRC patients with end-stage renal disease and that these manifestations can be successfully managed with angiotensin-converting enzyme inhibitors (ACEIs) and aggressive blood pressure control. We recommend continuing ACEI therapy if elevated blood pressure persists after maintenance hemodialysis. PMID:28033278

  19. A small-molecule inhibitor of SHIP1 reverses age- and diet-associated obesity and metabolic syndrome

    PubMed Central

    Srivastava, Neetu; Iyer, Sonia; Sudan, Raki; Youngs, Christie; Engelman, Robert W.; Howard, Kyle T.; Russo, Christopher M.; Chisholm, John D.; Kerr, William G.

    2016-01-01

    Low-grade chronic inflammation is a key etiological phenomenon responsible for the initiation and perpetuation of obesity and diabetes. Novel therapeutic approaches that can specifically target inflammatory pathways are needed to avert this looming epidemic of metabolic disorders. Genetic and chemical inhibition of SH2-containing inositol 5′ phosphatase 1 (SHIP1) has been associated with systemic expansion of immunoregulatory cells that promote a lean-body state; however, SHIP1 function in immunometabolism has never been assessed. This led us to investigate the role of SHIP1 in metabolic disorders during excess caloric intake in mice. Using a small-molecule inhibitor of SHIP1 (SHIPi), here we show that SHIPi treatment in mice significantly reduces body weight and fat content, improves control of blood glucose and insulin sensitivity, and increases energy expenditure, despite continued consumption of a high-fat diet. Additionally, SHIPi reduces age-associated fat in mice. We found that SHIPi treatment reverses diet-associated obesity by attenuating inflammation in the visceral adipose tissue (VAT). SHIPi treatment increases IL-4–producing eosinophils in VAT and consequently increases both alternatively activated macrophages and myeloid-derived suppressor cells. In addition, SHIPi decreases the number of IFN-γ–producing T cells and NK cells in VAT. Thus, SHIPi represents an approach that permits control of obesity and diet-induced metabolic syndrome without apparent toxicity. PMID:27536730

  20. Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

    PubMed Central

    Fuchs, Sebastian; Rensing-Ehl, Anne; Pannicke, Ulrich; Lorenz, Myriam R.; Fisch, Paul; Jeelall, Yogesh; Rohr, Jan; Speckmann, Carsten; Vraetz, Thomas; Farmand, Susan; Schmitt-Graeff, Annette; Krüger, Marcus; Strahm, Brigitte; Henneke, Philipp; Enders, Anselm; Horikawa, Keisuke; Goodnow, Christopher; Schwarz, Klaus

    2015-01-01

    Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of regulatory T cells are considered key factors in OS pathogenesis. We report 2 siblings presenting with cytomegalovirus (CMV) and Pneumocystis jirovecii infections and recurrent sepsis; one developed all clinical features of OS. Both carried homozygous germline mutations in CARD11 (p.Cys150*), impairing NF-κB signaling and IL-2 production. A somatic second-site mutation reverting the stop codon to a missense mutation (p.Cys150Leu) was detected in tissue-infiltrating T cells of the OS patient. Expression of p.Cys150Leu in CARD11-deficient T cells largely reconstituted NF-κB signaling. The reversion likely occurred in a prethymic T-cell precursor, leading to a chimeric T-cell repertoire. We speculate that in our patient the functional advantage of the revertant T cells in the context of persistent CMV infection, combined with lack of regulatory T cells, may have been sufficient to favor OS. This first observation of OS in a patient with a T-cell activation defect suggests that severely defective T-cell development or homeostatic proliferation in a lymphopenic environment are not required for this severe immunopathology. PMID:26289640

  1. Defective Lamin A-Rb Signaling in Hutchinson-Gilford Progeria Syndrome and Reversal by Farnesyltransferase Inhibition

    PubMed Central

    Marji, Jackleen; O'Donoghue, Seán I.; McClintock, Dayle; Satagopam, Venkata P.; Schneider, Reinhard; Ratner, Desiree; J. Worman, Howard; Gordon, Leslie B.; Djabali, Karima

    2010-01-01

    Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare premature aging disorder caused by a de novo heterozygous point mutation G608G (GGC>GGT) within exon 11 of LMNA gene encoding A-type nuclear lamins. This mutation elicits an internal deletion of 50 amino acids in the carboxyl-terminus of prelamin A. The truncated protein, progerin, retains a farnesylated cysteine at its carboxyl terminus, a modification involved in HGPS pathogenesis. Inhibition of protein farnesylation has been shown to improve abnormal nuclear morphology and phenotype in cellular and animal models of HGPS. We analyzed global gene expression changes in fibroblasts from human subjects with HGPS and found that a lamin A-Rb signaling network is a major defective regulatory axis. Treatment of fibroblasts with a protein farnesyltransferase inhibitor reversed the gene expression defects. Our study identifies Rb as a key factor in HGPS pathogenesis and suggests that its modulation could ameliorate premature aging and possibly complications of physiological aging. PMID:20559568

  2. Reverse transcription recombinase polymerase amplification assay for the rapid detection of type 2 porcine reproductive and respiratory syndrome virus.

    PubMed

    Wang, Jian-Chang; Yuan, Wan-Zhe; Han, Qing-An; Wang, Jin-Feng; Liu, Li-Bing

    2017-05-01

    Porcine reproductive and respiratory syndrome virus (PRRSV) is one of the most important pathogens in pigs, and has tremendous negative economic impact on the swine industry worldwide. PRRSV is classified into the two distinct genotypes: type 1 and type 2, and most of the described PRRSV isolates in China are type 2. Rapid and sensitive detection of PRRSV is of great importance for the disease control and regional eradication programs. Recombinase polymerase amplification (RPA) has emerged as a novel isothermal amplification technology for the molecular diagnosis of infectious diseases. In this study, a fluorescence reverse transcription RPA (RT-RPA) assay was developed to detect the type 2 PRRSV using primers and exo probe specific for the viral nucleocapsid gene. The reaction was performed at 40°C within 20min. The RT-RPA assay could detect both the classical (C-PRRSV) and highly pathogenic PRRSV (HP-PRRSV), but there was no cross-reaction to other pathogens. Using the in vitro transcribed PRRSV RNA as template, the analytical sensitivity of RT-RPA was 690 copies. The assay performance was evaluated by testing 60 field samples and compared to real-time RT-PCR. The detection rate of RT-RPA was 86.6% (52/60), while the detection rate of real-time RT-PCR was 83.3% (50/60). This simple, rapid and reliable method could be potentially applied for rapid detection of PRRSV in point-of-care and rural areas.

  3. Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome.

    PubMed

    Zhang, Anju; Zheng, Chengyun; Hou, Mi; Lindvall, Charlotta; Li, Ke-Jun; Erlandsson, Fredrik; Björkholm, Magnus; Gruber, Astrid; Blennow, Elisabeth; Xu, Dawei

    2003-04-01

    Cri du chat syndrome (CdCS) results from loss of the distal portion of chromosome 5p, where the telomerase reverse transcriptase (hTERT) gene is localized (5p15.33). hTERT is the rate-limiting component for telomerase activity that is essential for telomere-length maintenance and sustained cell proliferation. Here, we show that a concomitant deletion of the hTERT allele occurs in all 10 patients with CdCS whom we examined. Induction of hTERT mRNA in proliferating lymphocytes derived from five of seven patients was lower than that in unaffected control individuals (P<.05). The patient lymphocytes exhibited shorter telomeres than age-matched unaffected individuals (P<.0001). A reduction in replicative life span and a high rate of chromosome fusions were observed in cultured patient fibroblasts. Reconstitution of telomerase activity by ectopic expression of hTERT extended the telomere length, increased the population doublings, and prevented the end-to-end fusion of chromosomes. We conclude that hTERT is limiting and haploinsufficient for telomere maintenance in humans in vivo. Accordingly, the hTERT deletion may be one genetic element contributing to the phenotypic changes in CdCS.

  4. A case of posterior reversible encephalopathy syndrome associated with gilenya(®) (fingolimod) treatment for multiple sclerosis.

    PubMed

    Lindå, Hans; von Heijne, Anders

    2015-01-01

    We describe posterior reversible encephalopathy syndrome (PRES) in a woman with multiple sclerosis treated with Gilenya(®) (Fingolimod). The first symptoms appeared after 21 months of fingolimod treatment. She experienced headache, altered mental status, cognitive deficits, seizures, and visual disturbances. Not at any time during the course of the disease could any signs of infection or rheumatic disorder be detected. Test for anti-neuronal antibodies was also negative. Her blood pressure was normal. MRI showed widespread cortical and subcortical changes with some mass-effect in the temporo-occipital-parietal lobes in the left hemisphere. Contrast enhancement was seen in the leptomeninges and, in addition, there were no areas with restricted diffusion and no signs of hemorrhage. Her condition deteriorated until fingolimod was discontinued. Slowly her condition improved and after 8 months, the only symptoms that remained were two small, non-corresponding, right inferior scotomas. We believe that all symptoms, the clinical course, and the MRI findings in this case can all be explained by considering PRES, a probably rare, but serious, side effect of fingolimod treatment.

  5. Transcranial Doppler Ultrasonography As a Non-Invasive Tool for Diagnosis and Monitoring of Reversible Cerebral Vasoconstriction Syndrome.

    PubMed

    Levin, Jay H; Benavides, Jorge; Caddick, Claudine; Laurie, Kathleen; Wilterdink, Janet; Yaghi, Shadi; Silver, Brian; Khan, Muhib

    2016-09-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a vascular headache disorder characterized by severe headaches with vasospasm of cerebral arteries. Transcranial Doppler ultrasonography (TCD) has been widely applied and validated in studying vasospasm of intracranial vessels, but the role of TCD in the diagnosis and monitoring of RCVS is less well established. We sought to determine the reliability of TCD for diagnosis and monitoring of RCVS. Patients admitted to an inpatient neurology service between 2011 and 2014 with a discharge diagnosis of RCVS were retrospectively analyzed for demographics, neuroimaging, and functional outcomes. Baseline and follow-up TCD flow velocities in the middle cerebral artery (Vmca) were compared relative to the final diagnosis. The cohort consisted of fifteen patients (93% females; mean age 46.7 +/- 12.4 years); initial TCD evaluation was performed 10.9 +/- 6.6 (range 1-24) days after headache onset. Fourteen patients (93.3%) had increased flow velocities by initial TCD in at least one major cerebral blood vessel (MCA, ACA, PCA, vertebral, basilar). TCD flow velocities in the middle cerebral artery (Vmca) reached a mean peak of 163 cm/s three to four weeks after the onset of thunderclap headache. TCD is a non-invasive neuroimaging modality that may have potential for the initial diagnosis and subsequent monitoring of patients with suspected RCVS. Larger studies will be needed to establish its utility. [Full article available at http://rimed.org/rimedicaljournal-2016-09.asp, free with no login].

  6. Reversal of Acute Complex Regional Pain Syndrome Using the Practical Application of Neurodiagnostic Evaluation Process: A Case Study

    PubMed Central

    Anderson, Karen E

    2013-01-01

    In 2005, a patient in my practice developed complex regional pain syndrome type 1 (CRPS 1) after bunion surgery. The condition was properly diagnosed within 4 weeks with a diagnostic technique that I routinely use to diagnose chronic musculoskeletal pain, and it was successfully treated. The tests, which are based on primitive and postural reflexes in infants, were adapted to reflect normal and abnormal motor behaviors in adults after provocation of reflexes of the autonomic nervous system (afferent C fibers in peripheral nerves). Approximately 60 days after my patient’s operation, the tests indicated a positive reflex at the posterior tibial nerve in the operated foot. Surgery to remove an accessory ossicle from the talus adjacent to this nerve resolved the CRPS 1 within 2 weeks. Since CRPS 1 is a dysfunctional state of the autonomic regulatory control of pain, it was postulated that a test based on autonomic nerve function could isolate the source of CRPS 1. The Practical Application of Neurodiagnostic Evaluation process was shown to be diagnostic for the cause of acute CRPS 1 and to allow its reversal. Further evaluation of the test for diagnosis and treatment of CRPS is needed. PMID:24355904

  7. [Anesthetic Management of a Parturient with Eclampsia, Posterior Reversible Encephalopathy Syndrome and Pulmonary Edema due to Pregnancy-induced Hypertension].

    PubMed

    Aida, Junko; Okutani, Hiroai; Oda, Yutaka; Okutani, Ryu

    2015-08-01

    A 27-year-old woman with mental retardation was admitted to a nearby hospital for an abrupt onset of seizure. Physical examination revealed remarkable hypertension and pregnancy with estimated gestational age of 28th week. Severe pulmonary edema and hypoxia led to a diagnosis of pregnancy-induced hypertension (PIH) accompanied by eclampsia. She was orotracheally intubated because of refractory seizure and hypoxemia, and transferred to our hospital for further treatment. Besides severe hypoxia and hypercapnea, an enhanced lesion was detected in the left posterior cerebrum by brain MRI. No abnormal findings were detected in the fetus, with heart rate of 150 beats x min. She was diagnosed with posterior reversible encephalopathy syndrome (PRES) caused by PIH and emergency cesarean section under general anesthesia was scheduled. A male newborn was delivered with Apgar score of 1/4 (1/5 min), followed by starting continuous infusion of nicardipine for controlling hypertension. Chest X-P on completion of surgery revealed remarkably alleviated pulmonary edema. She received intensive treatment and continued positive pressure ventilation for four days after delivery. She recovered with no neurological deficits and her child was well without any complications.

  8. Habit reversal training and educational group treatments for children with tourette syndrome: A preliminary randomised controlled trial.

    PubMed

    Yates, Rachel; Edwards, Katie; King, John; Luzon, Olga; Evangeli, Michael; Stark, Daniel; McFarlane, Fiona; Heyman, Isobel; İnce, Başak; Kodric, Jana; Murphy, Tara

    2016-05-01

    Quality of life of children with Tourette Syndrome (TS) is impacted greatly by its symptoms and their social consequences. Habit Reversal Training (HRT) is effective but has not, until now, been empirically evaluated in groups. This randomised controlled trial evaluated feasibility and preliminary efficacy of eight HRT group sessions compared to eight Education group sessions. Thirty-three children aged 9-13 years with TS or Chronic Tic Disorder took part. Outcomes evaluated were tic severity and quality of life (QoL). Tic severity improvements were found in both groups. Motor tic severity (Yale Global Tic Severity Scale) showed greatest improvements in the HRT group. Both groups showed a strong tendency toward improvements in patient reported QoL. In conclusion, group-based treatments for TS are feasible and exposure to other children with tics did not increase tic expression. HRT led to greater reductions in tic severity than Education. Implications, such as cost-effectiveness of treatment delivery, are discussed.

  9. A Grave Outcome of Posterior Reversible Encephalopathy Syndrome in a Patient Receiving Avastin (Bevacizumab) for Metastatic High-Grade Serous Ovarian Cancer

    PubMed Central

    Elmalik, Hind H.; ElAzzazy, Shereen; Salem, Khaled S.; Bujassoum, Salha

    2015-01-01

    A 45-year-old female developed neurological symptoms and elevated diastolic blood pressure while on bevacizumab (Avastin) and gemcitabine for recurrent carboplatin-resistant high-grade serous ovarian cancer. A brain MRI diagnosed our patient with posterior reversible encephalopathy syndrome. We are discussing her presenting symptoms in this paper as well as the management and the outcome. We emphasize the importance of keeping this rare but very serious complication in all patients receiving bevacizumab. PMID:26351436

  10. 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.

    PubMed

    Falah, Nadia; Posey, Jennifer E; Thorson, Willa; Benke, Paul; Tekin, Mustafa; Tarshish, Brocha; Lupski, James R; Harel, Tamar

    2017-04-01

    Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). DNA microarray analysis defined the duplication at 22q11.2q13, including SOX10. Sequencing of the coding region of SOX10 did not reveal any mutations. Our data suggest that SOX10 duplication can cause disorders of sex development and PCWH, supporting the hypothesis that SOX10 toxic gain of function rather than dominant negative activity underlies PCWH.

  11. Re-trafficking of hERG reverses long QT syndrome 2 phenotype in human iPS-derived cardiomyocytes.

    PubMed

    Mehta, Ashish; Sequiera, Glen Lester; Ramachandra, Chrishan J A; Sudibyo, Yuliansa; Chung, Yingying; Sheng, Jingwei; Wong, Keng Yean; Tan, Teng Hong; Wong, Philip; Liew, Reginald; Shim, Winston

    2014-06-01

    Long QT syndrome 2 (LQTS2) caused by missense mutations in hERG channel is clinically associated with abnormally prolonged ventricular repolarization and sudden cardiac deaths. Modelling monogenic arrhythmogenic diseases using human-induced pluripotent stem cells (hiPSCs) offers unprecedented mechanistic insights into disease pathogenesis. We utilized LQTS2-hiPSC-derived cardiomyocytes (CMs) to elucidate pathological changes and to demonstrate reversal of LQTS2 phenotype in a therapeutic intervention using a pharmacological agent, (N-[N-(N-acetyl-l-leucyl)-l-leucyl]-l-norleucine) (ALLN). We generated LQTS2-specific CMs (A561V missense mutation in KCNH2) from iPSCs using the virus-free reprogramming method. These CMs recapitulate dysfunction of hERG potassium channel with diminished IKr currents, prolonged repolarization durations, and elevated arrhythmogenesis due to reduced membrane localization of glycosylated/mature hERG. Dysregulated expression of folding chaperones and processing proteasomes coupled with sequestered hERG in the endoplasmic reticulum confirmed trafficking-induced disease manifestation. Treatment with ALLN, not only increased membrane localization of mature hERG but also reduced repolarization, increased IKr currents and reduced arrhythmogenic events. Diverged from biophysical interference of hERG channel, our results show that modulation of chaperone proteins could be therapeutic in LQTS2 treatment. Our in vitro study shows an alternative approach to rescue diseased LQTS2 phenotype via corrective re-trafficking therapy using a small chemical molecule, such as ALLN. This potentially novel approach may have ramifications in other clinically relevant trafficking disorders. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2014. For permissions please email: journals.permissions@oup.com.

  12. Clinical and radiological features of posterior reversible encephalopathy syndrome in patients with pre-eclampsia and eclampsia.

    PubMed

    Dong, X Y; Bai, C B; Nao, J F

    2017-10-01

    To analyse and summarise clinical and radiological features among patients with posterior reversible encephalopathy syndrome (PRES), to assess related factors with eclampsia and pre-eclampsia, and to compare the different factors between cytotoxic and vasogenic oedema among PRES patients. The clinical and radiological findings of 237 pre-eclamptic or eclamptic patients with neurological symptoms were evaluated retrospectively. Multiple logistic regression analyses were performed to compare the differences among these parameters. Seventy-six patients (32.07%) were diagnosed with PRES. Multiple logistic regression indicated that seizure (odds ratio [OR], 2.760; 95% confidence interval [CI]: 1.087-7.011; p=0.033), visual disturbances (OR=2.062 95%CI, 1.033-4.115; p=0.004), multiple production history (OR=3.637; 95% CI: 1.068-8.228; p=0.002) were independent risk factors for PRES. PRES+ (OR=3.217; 95%CI, 1.346-7.686; p=0.009), Visual disturbances (OR=4.283; 95% CI: 1.843-9.953; p=0.001) had strong association with eclampsia. Visual disturbances (OR=7.200; 95% CI: 2.116-24.496; p=0.002) had strong correlation with eclampsia among PRES+ patients. Visual disturbances (OR=2.947; 95% CI: 1.135-7.648; p=0.026) were independently related to cytotoxic oedema. Nearly one-third of pre-eclampsia or eclampsia patients with neurological symptoms have PRES. Visual disturbances, seizure, multiple production history are independent risk factors for PRES. Visual disturbances have a strong association with eclampsia whether patients have PRES or not. Visual disturbances are independently related to cytotoxic oedema among PRES+ patients. Copyright © 2017 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

  13. Detection of Middle East respiratory syndrome coronavirus using reverse transcription loop-mediated isothermal amplification (RT-LAMP)

    PubMed Central

    2014-01-01

    Background The first documented case of Middle East Respiratory Syndrome coronavirus (MERS-CoV) occurred in 2012, and outbreaks have continued ever since, mainly in Saudi Arabia. MERS-CoV is primarily diagnosed using a real-time RT-PCR assay, with at least two different genomic targets required for a positive diagnosis according to the case definition of The World Health Organization (WHO) as of 3 July 2013. Therefore, it is urgently necessary to develop as many specific genetic diagnostic methods as possible to allow stable diagnosis of MERS-CoV infections. Methods Reverse transcription-loop-mediated isothermal amplification (RT-LAMP) is a genetic diagnostic method used widely for the detection of viral pathogens, which requires only a single temperature for amplification, and can be completed in less than 1 h. This study developed a novel RT-LAMP assay for detecting MERS-CoV using primer sets targeting a conserved nucleocapsid protein region. Results The RT-LAMP assay was capable of detecting as few as 3.4 copies of MERS-CoV RNA, and was highly specific, with no cross-reaction to other respiratory viruses. Pilot experiments to detect MERS-CoV from medium containing pharyngeal swabs inoculated with pre-titrated viruses were also performed. The RT-LAMP assay exhibited sensitivity similar to that of MERS-CoV real-time RT-PCR. Conclusions These results suggest that the RT-LAMP assay described here is a useful tool for the diagnosis and epidemiologic surveillance of human MERS-CoV infections. PMID:25103205

  14. Synaptic plasticity deficits in an experimental model of rett syndrome: long-term potentiation saturation and its pharmacological reversal.

    PubMed

    Weng, S-M; McLeod, F; Bailey, M E S; Cobb, S R

    2011-04-28

    Rett syndrome (RTT), a disorder caused almost exclusively by mutations in the X-linked gene, MECP2, has a phenotype thought to be primarily of neurological origin. Disruption of Mecp2 in mice results in a prominent RTT-like phenotype. One of the consequences of MeCP2 absence in the brain is altered functional and structural plasticity. We aimed to characterize synaptic effects related to plasticity in the hippocampus further and establish whether plasticity defects are amenable to pharmacological reversal. Using male mice in which Mecp2 expression was prevented by a stop cassette, we assessed synaptic plasticity in area CA1 at different phenotypic stages, scoring the mice weekly for overt RTT-like signs. Strongly symptomatic Mecp2(stop/y) mice displayed reduced long-term potentiation (LTP, 40.2±1.6% of wild-type), post-tetanic potentiation (PTP, 45±18.8% of wild-type) and paired-pulse facilitation (PPF, 78±0.1% of wild type) (all P<0.05), the impairment increasing with symptom severity score. These plasticity impairments were absent in presymptomatic mice. Repeated high frequency stimulation revealed pronounced LTP saturation in symptomatic Mecp2(stop/y) mice, suggesting an LTP 'ceiling' effect. Bath application of the weak NMDA receptor blocker memantine (1 μM) resulted in partial restoration of a short-term plasticity component. These data support that idea that progressive functional synaptic impairment is a key feature in the RTT brain and demonstrate the potential for the pharmacological restoration of plasticity function.

  15. Reversible Cerebral Vasoconstriction Syndrome Promptly Diagnosed with Magnetic Resonance Imaging Including Magnetic Resonance Angiography During Immunosuppressive Therapy in a 16-Year-Old Girl with Refractory Cytopenia of Childhood.

    PubMed

    Ueki, Hideaki; Sanayama, Yasushi; Miyajima, Akiyo; Tsuchimochi, Taichiro; Igarashi, Shunji; Sunami, Shosuke

    2016-11-02

    Reversible cerebral vasoconstriction syndrome (RCVS) is a syndrome characterized by severe headache with segmental vasoconstriction of the cerebral arteries that resolves within 12 weeks. A 16-year-old girl with refractory cytopenia of childhood, who was receiving the immunosuppressant cyclosporine, developed severe headache and was diagnosed with RCVS using magnetic resonance imaging, including magnetic resonance angiography (MRA). MRA is a non-invasive and very effective technique for diagnosing RCVS. MRA should be performed at the onset of severe headache during immunosuppressant administration for children with hematological disorders and may prevent sequelae such as posterior reversible encephalopathy syndrome or ischemic attack.

  16. Reversible Cerebral Vasoconstriction Syndrome Promptly Diagnosed with Magnetic Resonance Imaging Including Magnetic Resonance Angiography During Immunosuppressive Therapy in a 16-Year-Old Girl with Refractory Cytopenia of Childhood

    PubMed Central

    Ueki, Hideaki; Sanayama, Yasushi; Miyajima, Akiyo; Tsuchimochi, Taichiro; Igarashi, Shunji; Sunami, Shosuke

    2016-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a syndrome characterized by severe headache with segmental vasoconstriction of the cerebral arteries that resolves within 12 weeks. A 16-year-old girl with refractory cytopenia of childhood, who was receiving the immunosuppressant cyclosporine, developed severe headache and was diagnosed with RCVS using magnetic resonance imaging, including magnetic resonance angiography (MRA). MRA is a non-invasive and very effective technique for diagnosing RCVS. MRA should be performed at the onset of severe headache during immunosuppressant administration for children with hematological disorders and may prevent sequelae such as posterior reversible encephalopathy syndrome or ischemic attack. PMID:27994838

  17. Oxidative stress and increased formation of vasoconstricting F2-isoprostanes in patients with reversible cerebral vasoconstriction syndrome.

    PubMed

    Chen, Shih-Pin; Chung, Yu-Ting; Liu, Tsung-Yun; Wang, Yen-Feng; Fuh, Jong-Ling; Wang, Shuu-Jiun

    2013-08-01

    The pathophysiology of reversible cerebral vasoconstriction syndrome (RCVS) is unknown. Oxidative stress is detrimental to endothelial function and vascular reactivity. We hypothesized that the oxidative stress marker 8-iso-prostaglandin F2α, which is also a potent vasoconstrictor, might contribute to the pathogenesis of RCVS. Recruited participants included 103RCVS patients, 53 patients with primary headache with acute severe attacks, and 54 healthy controls. Subjects recruited prior to 2009 were discovery cohort, whereas those after 2009, replication cohort. Urine samples were obtained from all patients at registration and from 79 patients with RCVS again at remission stage. Urine 8-iso-prostaglandin F2α was analyzed by liquid chromatography-tandem mass spectrometry. Patients with RCVS received magnetic resonance angiography and transcranial color-coded sonography. In RCVS patients, the urine 8-iso-prostaglandin F2α level was higher than that in the other groups in discovery, replication, and combined cohorts (RCVS, 0.29±0.18; primary headache with acute severe attacks, 0.21±0.19; control, 0.18±0.09ng/mg creatinine; P<0.001), and it was positively correlated with the flow velocities of major intracranial arteries, especially within the first week of disease onset (middle cerebral artery, Spearman's correlation coefficient [rs]=0.580, P=0.002; anterior cerebral artery, rs=0.472, P=0.042; posterior cerebral artery, rs=0.457, P=0.022; basilar artery, rs= 0.530, P=0.002). The 8-iso-prostaglandin F2α level decreased from the ictalto remission stage in RCVS patients (0.31±0.21 vs 0.16±0.10ng/mg creatinine, P<0.001). 8-Iso-prostaglandin F2α was higher in patients with RCVS and correlated with the severity of vasoconstrictions. Further studies are required to explore its potential pathogenic role. Copyright © 2013 Elsevier Inc. All rights reserved.

  18. [A case of atypical type of Sturge-Weber syndrome demonstrated reversible change by MRI FLAIR method in ictus and in postictal state].

    PubMed

    Sasaki, M; Igarashi, K; Suzuki, S; Saito, K

    1999-07-01

    We report a patient of atypical type of Sturge-Weber syndrome who demonstrated a reversible change by MRI FLAIR method in ictus and postictal state. A 5-year-old boy was admitted to our hospital because of severe headache, vomiting and loss of consciousness with his eyes conjugated to left for a few minutes. He had no facial nevus and other abnormal findings in physical examination. CT scan showed two small calcifications in the right occipital lobe. Postcontrast T 1-weighted image of MRI demonstrated a right parieto-occipital leptomeningeal enhancement. We diagnosed this case as an atypical type of Sturge-Weber syndrome. Although, on admission, FLAIR method showed the area of high signal intensity, after anticonvulsant therapy, those abnormal area disappeared. It is presumably detected by FLAIR method slight extravasation of plasma element in the surface of the brain due to regional hyperperfusion in ictus.

  19. Viewpoint: reversible nature of platelet binding causing transfusion-related acute lung injury (TRALI) syndrome may explain dyspnea after ticagrelor and elinogrel.

    PubMed

    Serebruany, Victor L

    2012-12-01

    There may be a universal mechanism explaining dyspnea after ticagrelor and elinogrel, namely, transfusion-related acute lung injury (TRALI). Indeed, recent clinical trials with ticagrelor (DISPERSE, DISPERSE-II, and PLATO), and elinogrel (INNOVATE PCI) revealed double-digit rates of dyspnea after novel reversible antiplatelet agents. In contrast, dyspnea is not associated with conventional non-reversible agents such as aspirin, or thienopyridines (ticlopidine, clopidogrel, or prasugrel) suggesting distinct mechanism of shortness of breath after ticagrelor and elinogrel. The adenosine hypothesis has been offered to explain such adverse association. However, despite obvious similarity between ticagrelor and adenosine molecules, the chemical structure of elinogrel is entirely different. In fact, ticagrelor is a cyclopentyl-triazolo-pyrimidine, while elinogrel is a quinazolinedione. Since both agents cause dyspnea, the adenosine hypothesis is no longer valid. In contrast, the reversible nature of platelet inhibition attributable to both ticagrelor and elinogrel causing premature cell ageing, apoptosis, impaired turnover due to sequestration of overloaded, exhausted platelets in the pulmonary circulation are among potential autoimmune mechanism(s) resulting in the development of a TRALI-like reaction, and frequent dyspnea. Despite expected benefit for better bleeding control, further development of reversible antithrombins is severely limited due to the existence of a potentially universal serious adverse event, such as TRALI-syndrome with dyspnea as a predominant clinical manifestation. Since TRALI is an established number one contributor to mortality after blood transfusions, ticagrelor death "benefit" in PLATO is challenged further.

  20. Novel Association Between the Reverse-Dipper Pattern of Ambulatory Blood Pressure Monitoring and Metabolic Syndrome in Men But Not in Women

    PubMed Central

    Yan, Bin; Yan, Hang; Sun, Lu; Yan, Xin; Peng, Liyuan; Wang, Yuhuan; Wang, Gang

    2015-01-01

    Abstract The aim of this study was to investigate the relationships between nocturnal variations in blood pressure (BP) and metabolic syndrome (MetS) in different gender. This cross-sectional study involved 509 hypertensive patients (254 males and 255 females, 45 to 75 years old) from September 2013 to March 2014. BP values were acquired from ambulatory BP monitoring (ABPM). The dipper pattern of BP was defined as 10% to 20% reduction of the mean systolic BP (SBP) values at night compared with the daytime values. The diagnosis of MetS was made according to NCEP ATP-III definition. Multivariate logistic regression analyses were used to explore the relationships between ABPM results and MetS. In our study, MetS were observed in 29.1% of male and 18.4% of female participants. The prevalence of MetS was higher in the patients with reverse-dipper pattern than in others. After multivariate logistic regression analysis, the reverse-dipper pattern of BP (odds ratio 2.298; P = 0.006) and 24-SBP (odds ratio 1.063; P = 0.021) were independently correlated with MetS in males. However, there was no association between MetS and BP reverse dipping in females. Our cross-sectional study showed that the reverse-dipper pattern of BP is associated with MetS in male, while the underlying mechanism deserves further investigation. PMID:26632731

  1. Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.

    PubMed

    Pitteloud, Nelly; Acierno, James S; Meysing, Astrid U; Dwyer, Andrew A; Hayes, Frances J; Crowley, William F

    2005-03-01

    Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder. Recently, loss-of-function mutations in the fibroblast growth factor receptor 1 (FGFR1) gene have been shown to cause autosomal dominant KS. To date, the detailed reproductive phenotype of KS associated with mutations in the FGFR1 has yet to be described. We report a kindred comprising a male proband with KS and spontaneous reversibility, whose mother had delayed puberty and whose maternal grandfather isolated anosmia. The proband presented at age 18 yr with KS and was subsequently treated with testosterone (T) therapy. Upon discontinuation of T therapy, he recovered from his hypogonadotropic hypogonadism, as evidenced by a normal LH secretion pattern, sustained normal serum T levels, and active spermatogenesis. The three members of this single family harbor the same FGFR1 mutation (Arg(622)X) in the tyrosine kinase domain. This report demonstrates 1) the first genetic cause of the rare variant of reversible KS, 2) the reversal of hypogonadotropic hypogonadism in a proband carrying an FGFR1 mutation suggests a role of FGFR1 beyond embryonic GnRH neuron migration, and 3) a loss of function mutation in the FGFR1 gene causing delayed puberty.

  2. Valproate-associated reversible encephalopathy in a 3-year-old girl with Pallister-Killian syndrome.

    PubMed

    Gerstner, Thorsten; Bell, Nellie; Koenig, Stephan A

    2008-06-01

    Valproic acid (VPA) is considered to be a drug of first choice for the therapy of generalized and focal epilepsies, including special epileptic syndromes. The drug is usually well tolerated, rare serious complications may occur in some patients, including hemorrhagic pancreatitis, coagulapathies, bone marrow suppression, VPA-induced hepatotoxicity and encephalopathy. We report a case of VPA-associated encephalopathy without hyperammonemia in a 3-year-old girl with Pallister-Killian-Syndrom, combined with a mild hepatopathy and thrombopathy. After withdrawal of VPA, the clinical symptoms and the electroencephalography-alterations vanished rapidly.

  3. Valproate-associated reversible encephalopathy in a 3-year-old girl with Pallister-Killian syndrome

    PubMed Central

    Gerstner, Thorsten; Bell, Nellie; Koenig, Stephan A

    2008-01-01

    Valproic acid (VPA) is considered to be a drug of first choice for the therapy of generalized and focal epilepsies, including special epileptic syndromes. The drug is usually well tolerated, rare serious complications may occur in some patients, including hemorrhagic pancreatitis, coagulapathies, bone marrow suppression, VPA-induced hepatotoxicity and encephalopathy. We report a case of VPA-associated encephalopathy without hyperammonemia in a 3-year-old girl with Pallister-Killian-Syndrom, combined with a mild hepatopathy and thrombopathy. After withdrawal of VPA, the clinical symptoms and the electroencephalography-alterations vanished rapidly. PMID:18827862

  4. Reversal of Refractory Ulcerative Colitis and Severe Chronic Fatigue Syndrome Symptoms Arising from Immune Disturbance in an HLADR/DQ Genetically Susceptible Individual with Multiple Biotoxin Exposures

    PubMed Central

    Gunn, Shelly R.; Gibson Gunn, G.; Mueller, Francis W.

    2016-01-01

    Patient: Male, 25 Final Diagnosis: Ulcerative colitis and chronic fatigue syndrome Symptoms: Colitis • profound fatigue • multi-joint pain • cognitive impairment • corneal keratitis Medication: — Clinical Procedure: VIP replacement therapy Specialty: Family Medicine Objective: Unusual clinical course Background: Patients with multisymptom chronic conditions, such as refractory ulcerative colitis (RUC) and chronic fatigue syndrome (CFS), present diagnostic and management challenges for clinicians, as well as the opportunity to recognize and treat emerging disease entities. In the current case we report reversal of co-existing RUC and CFS symptoms arising from biotoxin exposures in a genetically susceptible individual. Case Report: A 25-year-old previously healthy male with new-onset refractory ulcerative colitis (RUC) and chronic fatigue syndrome (CFS) tested negative for autoimmune disease biomarkers. However, urine mycotoxin panel testing was positive for trichothecene group and air filter testing from the patient’s water-damaged rental house identified the toxic mold Stachybotrys chartarum. HLA-DR/DQ testing revealed a multisusceptible haplotype for development of chronic inflammation, and serum chronic inflammatory response syndrome (CIRS) biomarker testing was positive for highly elevated TGF-beta and a clinically undetectable level of vasoactive intestinal peptide (VIP). Following elimination of biotoxin exposures, VIP replacement therapy, dental extractions, and implementation of a mind body intervention-relaxation response (MBI-RR) program, the patient’s symptoms resolved. He is off medications, back to work, and resuming normal exercise. Conclusions: This constellation of RUC and CFS symptoms in an HLA-DR/DQ genetically susceptible individual with biotoxin exposures is consistent with the recently described CIRS disease pathophysiology. Chronic immune disturbance (turbatio immuno) can be identified with clinically available CIRS biomarkers and

  5. Reversible posterior leukoencephalopathy syndrome following combinatorial cisplatin and pemetrexed therapy for lung cancer in a normotensive patient: A case report and literature review

    PubMed Central

    XIE, CHANGQING; JONES, VOVANTI T.

    2016-01-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is a rare neurological syndrome of the brain, causing symptoms such as headaches, seizures, altered mental status and visual disturbances. The condition is predominantly associated with hypertension, eclampsia, renal impairment, cytotoxic drugs, immunosuppressive agents and molecular targeted agents, but the precise underlying mechanism of RPLS is not fully understood. The present study describes the case of a 65-year-old female patient with stage IIA non-small cell lung cancer who received cisplatin/pemetrexed treatment at the Leo W. Jenkins Cancer Center. Following 3 cycles of this therapy, the patient was referred to the Emergency Department of Vidant Medical Center with an altered mental status, subsequently presenting with epileptic seizures, a fever and a headache. A neurological examination revealed generalized hyperreflexia and paraparesis, with extensor posturing of the bilateral lower extremities. The lumbar puncture and electroencephalography results were normal, but cranial computed tomography (CT) scans revealed attenuation abnormalities in the bilateral parietal region and the left occipital lobe, with suspected metastasis. Cranial T2-weighted magnetic resonance imaging (MRI) indicated bilateral regions of increased signal intensity in the occipital, temporal and periventricular white matter. The patient was treated with anticonvulsants, steroids and antihypertensive drugs, recovered gradually from the symptoms and regained full consciousness. However, the patient reported residual weakness, presenting with an Eastern Cooperative Oncology Group score of 3, reflective of an inability to independently perform daily activities and self-care. A brain MRI performed 10 days later demonstrated that the subcortical edema had partially subsided. The patient was discharged on day 15 post-admission. A follow-up cranial CT examination 1 month later indicated a partial resolution of the abnormalities. The

  6. Correct the Coagulopathy and Scoop It Out: Complete Reversal of Anuric Renal Failure through the Operative Decompression of Extraperitoneal Hematoma-Induced Abdominal Compartment Syndrome.

    PubMed

    McBeth, Paul B; Dunham, Michael; Ball, Chad G; Kirkpatrick, Andrew W

    2012-01-01

    We report two cases of extraperitoneal compression of the intra-abdominal space resulting in abdominal compartment syndrome (ACS) with overt renal failure, which responded to operative decompression of the extra-peritoneal spaces. This discussion includes patient presentation, clinical course, diagnosis, interventions, and outcomes. Data was collected from the patient's electronic medical record and a radiology database. ACS appears to be a rare but completely reversible complication of both retroperitoneal hematoma (RH) and rectus sheath hematoma (RSH). In patients with large RH or RSH consideration of intra-abdominal pressure (IAP) monitoring combined with aggressive operative drainage after correction of the coagulopathy should be considered. These two cases illustrate how a relatively benign pathology can result in increased IAP, organ failure, and ultimately ACS. Intervention with decompressive laparotomy and evacuation of clot resulted in return to normal physiologic function.

  7. Diagnosis of twin-to-twin transfusion syndrome, selective fetal growth restriction, twin anaemia-polycythaemia sequence, and twin reversed arterial perfusion sequence.

    PubMed

    Sueters, Marieke; Oepkes, Dick

    2014-02-01

    Monochorionic twin pregnancies are well known to be at risk for a variety of severe complications, a true challenge for the maternal-fetal medicine specialist. With current standards of care, monochorionicity should be established in the first trimester. Subsequently, frequent monitoring using the appropriate diagnostic tools, and in-depth knowledge about the pathophysiology of all possible clinical presentations of monochorionic twin abnormalities, should lead to timely recognition, and appropriate management. Virtually all unique diseases found in monochorionic twins are directly related to placental angio-architecture. This, however, cannot be established reliably before birth. The clinician needs to be aware of the definitions and symptoms of twin-to twin transfusion syndrome, selective fetal growth restriction, twin anaemia-polycythaemia sequence, and twin reversed arterial perfusion sequence, to be able to recognise each disease and take the required action. In this chapter, we address current standards on correct and timely diagnoses of severe complications of monochorionic twin pregnancies.

  8. A global amnesia associated with the specific variant of posterior reversible encephalopathy syndrome (PRES) that developed due to severe preeclampsia and malignant hypertension

    PubMed Central

    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

  9. Probe-free real-time reverse transcription polymerase chain reaction assays for the detection and typing of porcine reproductive and respiratory syndrome virus in Canada.

    PubMed

    Eschbaumer, Michael; Li, Wansi May; Wernike, Kerstin; Marshall, Frank; Czub, Markus

    2015-07-01

    Porcine reproductive and respiratory syndrome (PRRS) has tremendous impact on the pork industry in North America. The molecular diagnosis of infection with PRRS virus (PRRSV) is hampered by its considerable strain diversity. In this study, 43 previously published or newly developed primers for probe-free real-time reverse transcription polymerase chain reaction (RT-PCR) were evaluated on their sensitivity, specificity, reproducibility, and repeatability, using a diverse panel of 36 PRRSV strains as well as other arteriviruses and unrelated porcine viruses. Three primer pairs had excellent diagnostic and analytical sensitivity on par with a probe-based reference assay, absolute specificity to virus genotype and species, as well as over 95% reproducibility and repeatability across a wide dynamic range.

  10. Lung microvascular transport properties measured by multiple indicator dilution methods in patients with adult respiratory distress syndrome. A comparison between patients reversing respiratory failure and those failing to reverse.

    PubMed

    Harris, T R; Bernard, G R; Brigham, K L; Higgins, S B; Rinaldo, J E; Borovetz, H S; Sibbald, W J; Kariman, K; Sprung, C L

    1990-02-01

    We conducted indicator dilution studies on the lungs of patients in the early phases of adult respiratory distress syndrome (ARDS) to test the hypothesis that capillary permeability was increased in patients with respiratory failure. Indicator dilution studies were performed using 51Cr-erythrocytes, 125I-albumin, 14C-urea, and 3H-water as tracers. The injectate was infused as a bolus into a central venous line. Peripheral arterial blood was collected and counted for radioactivity. Mathematical analysis of the indicator curves yielded cardiac output, measures of the product of capillary permeability and surface area for urea (PS and D1/2S), the intravascular lung volume (Vv), and the extravascular lung water volume (Ve). Permeability was separated from surface area by normalizing PS and D1/2S to Vv. Patients could be divided into 16 in whom blood gas determinations and radiologic criteria for ARDS were reversed and 23 in whom they were not. We examined indicator dilution and other measures of lung function in the two groups to determine whether significant differences in microvascular function existed. PS and PS/Vv were significantly higher in the nonreversal patients. Ve was above normal, but not different between groups. Linear regression analysis showed significant correlations for all of the following in the nonreversal group: Ve and all measures of permeability, pulmonary vascular resistance (PVR), and the inverse of permeability-surface area measures and AaDO2 and PVR. Only measures of Ve and PS correlated in the reversal group. These results support the hypothesis that capillary permeability is increased in patients with early ARDS and continuing respiratory failure.(ABSTRACT TRUNCATED AT 250 WORDS)

  11. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.

    PubMed

    Nambot, Sophie; Masurel, Alice; El Chehadeh, Salima; Mosca-Boidron, Anne-Laure; Thauvin-Robinet, Christel; Lefebvre, Mathilde; Marle, Nathalie; Thevenon, Julien; Perez-Martin, Stéphanie; Dulieu, Véronique; Huet, Frédéric; Plessis, Ghislaine; Andrieux, Joris; Jouk, Pierre-Simon; Billy-Lopez, Gipsy; Coutton, Charles; Morice-Picard, Fanny; Delrue, Marie-Ange; Heron, Delphine; Rooryck, Caroline; Goldenberg, Alice; Saugier-Veber, Pascale; Joly-Hélas, Géraldine; Calenda, Patricia; Kuentz, Paul; Manouvrier-Hanu, Sylvie; Dupuis-Girod, Sophie; Callier, Patrick; Faivre, Laurence

    2016-06-01

    The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH and confirmed by FISH. The patients display common clinical features, including intellectual disability with epilepsy, owing to the presence of STXBP1 within the deletion, nail dysplasia and bone malformations, in particular patellar abnormalities attributed to LMX1B deletion, epistaxis and cutaneous-mucous telangiectasias explained by ENG haploinsufficiency and common facial dysmorphism. This systematic analysis of the genes comprised in the deletion allowed us to identify genes whose haploinsufficiency is expected to lead to disease manifestations and complications that require personalized follow-up, in particular for renal, eye, ear, vascular and neurological manifestations.

  12. A BDNF loop-domain mimetic acutely reverses spontaneous apneas and respiratory abnormalities during behavioral arousal in a mouse model of Rett syndrome

    PubMed Central

    Kron, Miriam; Lang, Min; Adams, Ian T.; Sceniak, Michael; Longo, Frank; Katz, David M.

    2014-01-01

    Reduced levels of brain-derived neurotrophic factor (BDNF) are thought to contribute to the pathophysiology of Rett syndrome (RTT), a severe neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). In Mecp2 mutant mice, BDNF deficits have been associated with breathing abnormalities, a core feature of RTT, as well as with synaptic hyperexcitability within the brainstem respiratory network. Application of BDNF can reverse hyperexcitability in acute brainstem slices from Mecp2-null mice, suggesting that therapies targeting BDNF or its receptor, TrkB, could be effective at acute reversal of respiratory abnormalities in RTT. Therefore, we examined the ability of LM22A-4, a small-molecule BDNF loop-domain mimetic and TrkB partial agonist, to modulate synaptic excitability within respiratory cell groups in the brainstem nucleus tractus solitarius (nTS) and to acutely reverse abnormalities in breathing at rest and during behavioral arousal in Mecp2 mutants. Patch-clamp recordings in Mecp2-null brainstem slices demonstrated that LM22A-4 decreases excitability at primary afferent synapses in the nTS by reducing the amplitude of evoked excitatory postsynaptic currents and the frequency of spontaneous and miniature excitatory postsynaptic currents. In vivo, acute treatment of Mecp2-null and -heterozygous mutants with LM22A-4 completely eliminated spontaneous apneas in resting animals, without sedation. Moreover, we demonstrate that respiratory dysregulation during behavioral arousal, a feature of human RTT, is also reversed in Mecp2 mutants by acute treatment with LM22A-4. Together, these data support the hypothesis that reduced BDNF signaling and respiratory dysfunction in RTT are linked, and establish the proof-of-concept that treatment with a small-molecule structural mimetic of a BDNF loop domain and a TrkB partial agonist can acutely reverse abnormal breathing at rest and in response to behavioral arousal

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

    PubMed

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás; Koskela, Antti; Tuukkanen, Juha; Ohlsson, Claes; Rozell, Björn; Eriksson, Maria

    2015-08-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that is most commonly caused by a de novo point mutation in exon 11 of the LMNA gene, c.1824C>T, which results in an increased production of a truncated form of lamin A known as progerin. In this study, we used a mouse model to study the possibility of recovering from HGPS bone disease upon silencing of the HGPS mutation, and the potential benefits from treatment with resveratrol. We show that complete silencing of the transgenic expression of progerin normalized bone morphology and mineralization already after 7 weeks. The improvements included lower frequencies of rib fractures and callus formation, an increased number of osteocytes in remodeled bone, and normalized dentinogenesis. The beneficial effects from resveratrol treatment were less significant and to a large extent similar to mice treated with sucrose alone. However, the reversal of the dental phenotype of overgrown and laterally displaced lower incisors in HGPS mice could be attributed to resveratrol. Our results indicate that the HGPS bone defects were reversible upon suppressed transgenic expression and suggest that treatments targeting aberrant progerin splicing give hope to patients who are affected by HGPS.

  14. A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome.

    PubMed

    Nabhani, Schafiq; Hönscheid, Andrea; Oommen, Prasad T; Fleckenstein, Bernhard; Schaper, Jörg; Kuhlen, Michaela; Laws, Hans-Jürgen; Borkhardt, Arndt; Fischer, Ute

    2014-12-01

    We report a novel type of mutation in the death ligand FasL that was associated with a severe phenotype of the autoimmune lymphoproliferative syndrome in two patients. A frameshift mutation in the intracellular domain led to complete loss of FasL expression. Cell death signaling via its receptor and reverse signaling via its intracellular domain were completely abrogated. In vitro lymphocyte proliferation induced by weak T cell receptor stimulation could be blocked and cell death was induced by engagement of FasL in T cells derived from healthy individuals and a heterozygous carrier, but not in FasL-deficient patient derived cells. Expression of genes implicated in lymphocyte proliferation and activation (CCND1, NFATc1, NF-κB1) was increased in FasL-deficient T cells and could not be downregulated by FasL engagement as in healthy cells. Our data thus suggest, that deficiency in FasL reverse signaling may contribute to the clinical lymphoproliferative phenotype of ALPS.

  15. Case report: severe reversible cardiomyopathy associated with systemic inflammatory response syndrome in the setting of diabetic hyperosmolar hyperglycemic non-ketotic syndrome.

    PubMed

    Berk, Justin; Wade, Raymond; Baser, Hatice Duygu; Lado, Joaquin

    2015-10-14

    This case study features a woman who presented with clinical and laboratory findings consistent with hyperosmolar hyperglycemic non-ketotic syndrome (HHNS), systemic inflammatory response syndrome (SIRS), and non-thyroidal illness syndrome (NTIS) who was noted to have a transient decrease in myocardial function. To our knowledge, this is the first case discussing the overlapping pathophysiological mechanisms could increase susceptibility to SIRS-induced cardiomyopathy. It is imperative that this clinical question be investigated further as such a relationship may have significant clinical implications for prevention and future treatments, particularly in patients similar to the one presented in this clinical case. A 53-year old Caucasian female presented to the Emergency Department for cough, nausea, vomiting and "feeling sick for 3 weeks." Labs were indicative of diabetic ketoacidosis. Initial electrocardiograms were suggestive of possible myocardial infarction and follow-up echocardiogram showed severely depressed left ventricular systolic function which resolved upon treatment of ketoacidosis. We suggest that her cardiomyopathy could have three synergistic sources: SIRS, HHNS and NTIS. Overlapping mechanisms suggest uncontrolled diabetes mellitus and NTIS could increase susceptibility to SIRS-induced cardiomyopathy as seen in this case. HHNS and SIRS cause cardiac tissue injury through mechanisms including impairment of fatty acid oxidation and formation of reactive oxygen species, as well as modifying the function of membrane calcium channels. As a result, it is conceivable that diabetes may amplify the deleterious effects of inflammatory stressors on cardiac myocytes. This novel case report offers a path for future research into prevention and treatment of SIRS-induced cardiomyopathy in, but not exclusive to, the setting of diabetes.

  16. Reversal of Refractory Ulcerative Colitis and Severe Chronic Fatigue Syndrome Symptoms Arising from Immune Disturbance in an HLA-DR/DQ Genetically Susceptible Individual with Multiple Biotoxin Exposures.

    PubMed

    Gunn, Shelly R; Gunn, G Gibson; Mueller, Francis W

    2016-05-11

    Patients with multisymptom chronic conditions, such as refractory ulcerative colitis (RUC) and chronic fatigue syndrome (CFS), present diagnostic and management challenges for clinicians, as well as the opportunity to recognize and treat emerging disease entities. In the current case we report reversal of co-existing RUC and CFS symptoms arising from biotoxin exposures in a genetically susceptible individual. A 25-year-old previously healthy male with new-onset refractory ulcerative colitis (RUC) and chronic fatigue syndrome (CFS) tested negative for autoimmune disease biomarkers. However, urine mycotoxin panel testing was positive for trichothecene group and air filter testing from the patient's water-damaged rental house identified the toxic mold Stachybotrys chartarum. HLA-DR/DQ testing revealed a multisusceptible haplotype for development of chronic inflammation, and serum chronic inflammatory response syndrome (CIRS) biomarker testing was positive for highly elevated TGF-beta and a clinically undetectable level of vasoactive intestinal peptide (VIP). Following elimination of biotoxin exposures, VIP replacement therapy, dental extractions, and implementation of a mind body intervention-relaxation response (MBI-RR) program, the patient's symptoms resolved. He is off medications, back to work, and resuming normal exercise. This constellation of RUC and CFS symptoms in an HLA-DR/DQ genetically susceptible individual with biotoxin exposures is consistent with the recently described CIRS disease pathophysiology. Chronic immune disturbance (turbatio immuno) can be identified with clinically available CIRS biomarkers and may represent a treatable underlying disease etiology in a subset of genetically susceptible patients with RUC, CFS, and other immune disorders.

  17. Reversible Valproate Induced Pisa Syndrome and Parkinsonism in a Neuro-Oncology Patient with Depression and Epilepsy

    PubMed Central

    Botturi, Andrea; Silvani, Antonio; Pravettoni, Gabriella; Paoli, Riccardo Augusto; Lucchiari, Claudio

    2016-01-01

    Neurological and psychiatric conditions frequently overlap in neuro-oncology. This overlapping negatively affects patients’ quality of life and decreases the ability of providers to manage specific symptoms by therapy modulation, especially when psychopharmacotherapy needs to be prescribed. We describe here a patient with recurrent brain tumor, symptomatic epilepsy and depression who developed Pisa syndrome and parkinsonism after several months of valproic acid use. An accurate recognition of symptoms and treatment side effect allowed an appropriate clinical approach so as to rapidly improve both movement disorder and depression without increasing the risk of developing seizure. This has improved the autonomy and quality of life in a patient with poor prognosis. PMID:27462241

  18. Reversible Valproate Induced Pisa Syndrome and Parkinsonism in a Neuro-Oncology Patient with Depression and Epilepsy.

    PubMed

    Botturi, Andrea; Silvani, Antonio; Pravettoni, Gabriella; Paoli, Riccardo Augusto; Lucchiari, Claudio

    2016-01-01

    Neurological and psychiatric conditions frequently overlap in neuro-oncology. This overlapping negatively affects patients' quality of life and decreases the ability of providers to manage specific symptoms by therapy modulation, especially when psychopharmacotherapy needs to be prescribed. We describe here a patient with recurrent brain tumor, symptomatic epilepsy and depression who developed Pisa syndrome and parkinsonism after several months of valproic acid use. An accurate recognition of symptoms and treatment side effect allowed an appropriate clinical approach so as to rapidly improve both movement disorder and depression without increasing the risk of developing seizure. This has improved the autonomy and quality of life in a patient with poor prognosis.

  19. Reversion of autoimmune lymphoproliferative syndrome with an antimalarial drug: preliminary results of a clinical cohort study and molecular observations.

    PubMed

    van der Werff Ten Bosch, Jutte; Schotte, Peter; Ferster, Alice; Azzi, Nadira; Boehler, Thomas; Laurey, Geneviève; Arola, Mikko; Demanet, Christian; Beyaert, Rudi; Thielemans, Kris; Otten, Jacques

    2002-04-01

    Autoimmune lymphoproliferative syndrome (ALPS) is a paediatric disease characterized by lymphoproliferation and autoimmunity. Most patients are known to carry heterozygous mutations of the TNFRSF6 gene leading to diminished Fas-mediated apoptosis and failure of activated lymphocytes to undergo apoptosis. A subgroup of patients without the TNFRSF6 gene mutation has similar defective apoptosis and clinical features. No effective treatment has been reported so far. Glucocorticoids, intravenous immunoglobulin and/or immunosuppressive drugs have usually led to only transient clinical improvement. Seven ALPS patients (two type Ia and five type III) were treated with the antimalarial drug Fansidar. No toxicity was observed. An objective response was seen in six of them and, in two, the treatment was stopped without reappearance of the symptoms. Moreover, a marked decrease in interleukin-10 levels was observed in two patients during the treatment. We found that the drug induced apoptosis in activated lymphocytes through activation of the mitochondrial apoptotic pathway.

  20. Recurrent status epilepticus in posterior reversible encephalopathy syndrome as initial feature of pediatric lupus: A newly diagnosed case and literature review.

    PubMed

    Nasri, Amina; Bedoui, Ines; Mrissa, Ridha; Riahi, Anis; Derbali, Hager; Zaouali, Jamel; Messelmani, Meriem; Mansour, Malek

    2016-10-01

    Posterior reversible encephalopathy syndrome (PRES) is a recently described clinico-neuroradiological syndrome with several predisposing conditions. Systemic lupus erythematosus (SLE), beginning in 15-20% in childhood, is considered as a potential underlying etiology of PRES. In children, status epilepticus (SE) rarely complicates PRES, and exceptionally occurs in SLE. We report on an illustrative case of PRES complicating pediatric lupus revealed by recurrent SE, and we further review through a Pubmed search the previously reported cases of pediatric SLE, PRES and SE. We describe the case of a 12-year old girl who presented with recurrent status epilepticus associated to high blood pressure and renal involvement. Brain imaging showed classical aspects of PRES. Immunological tests including antinuclear, anti-DNA, and anticardiolipin antibodies were positive. The diagnosis of SLE was established. The Pubmed search identified a total number of 9 children with SE in SLE, and 26 with PRES, including our patient. We discussed the clinical and paraclinical features of PRES in SLE with epilepsy, their underlying pathophysiological aspects, and their management challenges. PRES should be considered in initial recurrent SE in children, justifying a battery of tests comprising immunological testing. Anticardiolipin antibodies seem to play a crucial role in epilepsy, PRES and renal involvement in pediatric SLE. Further studies are needed to clarify whether PRES should be considered one of the neuropsychiatric manifestations of SLE or a consequence of active disease in other organ systems or its treatment. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  1. Possible Therapeutic Doses of Cannabinoid Type 1 Receptor Antagonist Reverses Key Alterations in Fragile X Syndrome Mouse Model

    PubMed Central

    Gomis-González, Maria; Busquets-Garcia, Arnau; Matute, Carlos; Maldonado, Rafael; Mato, Susana; Ozaita, Andrés

    2016-01-01

    Fragile X syndrome (FXS) is the most common monogenetic cause of intellectual disability. The cognitive deficits in the mouse model for this disorder, the Fragile X Mental Retardation 1 (Fmr1) knockout (KO) mouse, have been restored by different pharmacological approaches, among those the blockade of cannabinoid type 1 (CB1) receptor. In this regard, our previous study showed that the CB1 receptor antagonist/inverse agonist rimonabant normalized a number of core features in the Fmr1 knockout mouse. Rimonabant was commercialized at high doses for its anti-obesity properties, and withdrawn from the market on the bases of mood-related adverse effects. In this study we show, by using electrophysiological approaches, that low dosages of rimonabant (0.1 mg/kg) manage to normalize metabotropic glutamate receptor dependent long-term depression (mGluR-LTD). In addition, low doses of rimonabant (from 0.01 mg/kg) equally normalized the cognitive deficit in the mouse model of FXS. These doses of rimonabant were from 30 to 300 times lower than those required to reduce body weight in rodents and to presumably produce adverse effects in humans. Furthermore, NESS0327, a CB1 receptor neutral antagonist, was also effective in preventing the novel object-recognition memory deficit in Fmr1 KO mice. These data further support targeting CB1 receptors as a relevant therapy for FXS. PMID:27589806

  2. Impaired adult hippocampal neurogenesis and its partial reversal by chronic treatment of fluoxetine in a mouse model of Angelman syndrome.

    PubMed

    Godavarthi, Swetha K; Dey, Parthanarayan; Sharma, Ankit; Jana, Nihar Ranjan

    2015-09-04

    Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe cognitive and motor deficits, caused by the loss of function of maternally inherited Ube3a. Ube3a-maternal deficient mice (AS model mice) recapitulate many essential features of AS, but how the deficiency of Ube3a lead to such behavioural abnormalities is poorly understood. Here we have demonstrated significant impairment of adult hippocampal neurogenesis in AS mice brain. Although, the number of BrdU and Ki67-positive cell in the hippocampal DG region was nearly equal at early postnatal days among wild type and AS mice, they were significantly reduced in adult AS mice compared to wild type controls. Reduced number of doublecortin-positive immature neurons in this region of AS mice further indicated impaired neurogenesis. Unaltered BrdU and Ki67-positive cells number in the sub ventricular zone of adult AS mice brain along with the absence of imprinted expression of Ube3a in the neural progenitor cell suggesting that Ube3a may not be directly linked with altered neurogenesis. Finally, we show that the impaired hippocampal neurogenesis in these mice can be partially rescued by the chronic treatment of antidepressant fluoxetine. These results suggest that the chronic stress may lead to reduced hippocampal neurogenesis in AS mice and that impaired neurogenesis could contribute to cognitive disturbances observed in these mice.

  3. Reversal of reduced parvalbumin neurons in hippocampus and amygdala of Angelman syndrome model mice by chronic treatment of fluoxetine.

    PubMed

    Godavarthi, Swetha K; Sharma, Ankit; Jana, Nihar Ranjan

    2014-08-01

    Angelman syndrome (AS) is a neuropsychiatric disorder characterized by autism, intellectual disability and motor disturbances. The disease is primarily caused by the loss of function of maternally inherited UBE3A. Ube3a maternal-deficient mice recapitulates many essential feature of AS. These AS mice have been shown to be under chronic stress and exhibits anxiety-like behaviour because of defective glucocorticoid receptor signalling. Here, we demonstrate that chronic stress in these mice could lead to down-regulation of parvalbumin-positive interneurons in the hippocampus and basolateral amygdala from early post-natal days. Down-regulation of parvalbumin-positive interneurons number could be because of decrease in the expression of parvalbumin in these neurons. We also find that treatment with fluoxetine, a selective serotonin reuptake inhibitor, results in restoration of impaired glucocorticoid signalling, elevated serum corticosterone level, parvalbumin-positive interneurons and anxiety-like behaviours. Our findings suggest that impaired glucocorticod signalling in hippocampus and amygdala of AS mice is critical for the decrease in parvalbumin interneurons number, emergence of anxiety and other behavioural deficits and highlights the importance of fluoxetine in the recovery of these abnormalities.

  4. Reversible Adrenal Insufficiency in Three Patients With Post-Roux-en-Y Gastric Bypass Noninsulinoma Pancreatogenous Hypoglycemia Syndrome.

    PubMed

    Mathur, Shelly; Boparai, Jasmine; Mediwala, Sanjay N; Garcia, Jose M; Cunningham, Glenn R; Marcelli, Marco; Vasudevan, Madhuri M

    2014-01-01

    Objective. Noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) is a disorder of endogenous hyperinsulinemia that is clinically distinguishable from insulinoma, with a greater preponderance after Roux-en-Y gastric bypass (RYBG). Hyperinsulinemic hypoglycemia can predispose to attenuation of counterregulatory hormone responses to hypoglycemia, and consequent suppression of the hypothalamic-pituitary-adrenal (HPA) axis. This case series describes 3 individuals who were diagnosed with adrenal insufficiency (AI) after undergoing RYGB, complicated by NIPHS. Methods. A retrospective chart review was performed for each individual. Chart review applied particular attention to the onset of hyperinsulinemic hypoglycemia following bariatric surgery and the dynamic testing leading to the diagnoses of NIPHS and AI. Results. In each case, reactive hypoglycemia ensued within months to years after RYGB. Cosyntropin stimulation testing confirmed the diagnosis of AI. Hydrocortisone therapy reduced the frequency and severity of hypoglycemia and was continued until successful medical and/or surgical management of hyperinsulinism occurred. Follow-up testing of the HPA axis demonstrated resolution of AI. In all cases, hydrocortisone therapy was finally discontinued without incident. Conclusion. We speculate that transient AI is a potential complication in patients who experience recurrent hyperinsulinemic hypoglycemia after RYGB. The putative mechanism for this observation may be attenuation of the HPA axis after prolonged exposure to severe, recurrent hypoglycemia. We conclude that biochemical screening for AI should be considered in individuals who develop post-RYGB hyperinsulinemic hypoglycemia. If AI is diagnosed, supportive treatment should be maintained until hyperinsulinemic hypoglycemia has been managed effectively.

  5. Reversing the reduced level of endometrial GLUT4 expression in polycystic ovary syndrome: a mechanistic study of metformin action.

    PubMed

    Li, Xin; Cui, Peng; Jiang, Hong-Yuan; Guo, Yan-Rong; Pishdari, Bano; Hu, Min; Feng, Yi; Billig, Håkan; Shao, Ruijin

    2015-01-01

    Conflicting results have been reported regarding whether or not insulin-regulated glucose transporter 4 (GLUT4) is expressed in human and rodent endometria. There is an inverse relationship between androgen levels and insulin-dependent glucose metabolism in women. Hyperandrogenemia, hyperinsulinemia, and insulin resistance are believed to contribute to endometrial abnormalities in women with polycystic ovary syndrome (PCOS). However, it has been unclear in previous studies if endometrial GLUT4 expression is regulated by androgen-dependent androgen receptors (ARs) and/or the insulin receptor/Akt/mTOR signaling network. In this study, we demonstrate that GLUT4 is expressed in normal endometrial cells (mainly in the epithelial cells) and is down-regulated under conditions of hyperandrogenemia in tissues from PCOS patients and in a 5α-dihydrotestosterone-induced PCOS-like rat model. Western blot analysis revealed reduced endometrial GLUT4 expression and increased AR expression in PCOS patients. However, the reduced GLUT4 level was not always associated with an increase in AR in PCOS patients when comparing non-hyperplasia with hyperplasia. Using a human tissue culture system, we investigated the molecular basis by which GLUT4 regulation in endometrial hyperplasia tissues is affected by metformin in PCOS patients. We show that specific endogenous organic cation transporter isoforms are regulated by metformin, and this suggests a direct effect of metformin on endometrial hyperplasia. Moreover, we demonstrate that metformin induces GLUT4 expression and inhibits AR expression and blocks insulin receptor/PI3K/Akt/mTOR signaling in the same hyperplasia human tissues. These findings indicate that changes in endometrial GLUT4 expression in PCOS patients involve the androgen-dependent alteration of AR expression and changes in the insulin receptor/PI3K/Akt/mTOR signaling network.

  6. Reversing the reduced level of endometrial GLUT4 expression in polycystic ovary syndrome: a mechanistic study of metformin action

    PubMed Central

    Li, Xin; Cui, Peng; Jiang, Hong-Yuan; Guo, Yan-Rong; Pishdari, Bano; Hu, Min; Feng, Yi; Billig, Håkan; Shao, Ruijin

    2015-01-01

    Conflicting results have been reported regarding whether or not insulin-regulated glucose transporter 4 (GLUT4) is expressed in human and rodent endometria. There is an inverse relationship between androgen levels and insulin-dependent glucose metabolism in women. Hyperandrogenemia, hyperinsulinemia, and insulin resistance are believed to contribute to endometrial abnormalities in women with polycystic ovary syndrome (PCOS). However, it has been unclear in previous studies if endometrial GLUT4 expression is regulated by androgen-dependent androgen receptors (ARs) and/or the insulin receptor/Akt/mTOR signaling network. In this study, we demonstrate that GLUT4 is expressed in normal endometrial cells (mainly in the epithelial cells) and is down-regulated under conditions of hyperandrogenemia in tissues from PCOS patients and in a 5α-dihydrotestosterone-induced PCOS-like rat model. Western blot analysis revealed reduced endometrial GLUT4 expression and increased AR expression in PCOS patients. However, the reduced GLUT4 level was not always associated with an increase in AR in PCOS patients when comparing non-hyperplasia with hyperplasia. Using a human tissue culture system, we investigated the molecular basis by which GLUT4 regulation in endometrial hyperplasia tissues is affected by metformin in PCOS patients. We show that specific endogenous organic cation transporter isoforms are regulated by metformin, and this suggests a direct effect of metformin on endometrial hyperplasia. Moreover, we demonstrate that metformin induces GLUT4 expression and inhibits AR expression and blocks insulin receptor/PI3K/Akt/mTOR signaling in the same hyperplasia human tissues. These findings indicate that changes in endometrial GLUT4 expression in PCOS patients involve the androgen-dependent alteration of AR expression and changes in the insulin receptor/PI3K/Akt/mTOR signaling network. PMID:26045896

  7. Low-Dose IL-17 Therapy Prevents and Reverses Diabetic Nephropathy, Metabolic Syndrome, and Associated Organ Fibrosis

    PubMed Central

    Mohamed, Riyaz; Jayakumar, Calpurnia; Chen, Feng; Fulton, David; Stepp, David; Gansevoort, Ron T.

    2016-01-01

    Diabetes is the leading cause of kidney failure, accounting for >45% of new cases of dialysis. Diabetic nephropathy is characterized by inflammation, fibrosis, and oxidant stress, pathologic features that are shared by many other chronic inflammatory diseases. The cytokine IL-17A was initially implicated as a mediator of chronic inflammatory diseases, but recent studies dispute these findings and suggest that IL-17A can favorably modulate inflammation. Here, we examined the role of IL-17A in diabetic nephropathy. We observed that IL-17A levels in plasma and urine were reduced in patients with advanced diabetic nephropathy. Type 1 diabetic mice that are genetically deficient in IL-17A developed more severe nephropathy, whereas administration of low-dose IL-17A prevented diabetic nephropathy in models of type 1 and type 2 diabetes. Moreover, IL-17A administration effectively treated, prevented, and reversed established nephropathy in genetic models of diabetes. Protective effects were also observed after administration of IL-17F but not IL-17C or IL-17E. Notably, tubular epithelial cell-specific overexpression of IL-17A was sufficient to suppress diabetic nephropathy. Mechanistically, IL-17A administration suppressed phosphorylation of signal transducer and activator of transcription 3, a central mediator of fibrosis, upregulated anti-inflammatory microglia/macrophage WAP domain protein in an AMP-activated protein kinase–dependent manner and favorably modulated renal oxidative stress and AMP-activated protein kinase activation. Administration of recombinant microglia/macrophage WAP domain protein suppressed diabetes-induced albuminuria and enhanced M2 marker expression. These observations suggest that the beneficial effects of IL-17 are isoform-specific and identify low-dose IL-17A administration as a promising therapeutic approach in diabetic kidney disease. PMID:26334030

  8. Low-Dose IL-17 Therapy Prevents and Reverses Diabetic Nephropathy, Metabolic Syndrome, and Associated Organ Fibrosis.

    PubMed

    Mohamed, Riyaz; Jayakumar, Calpurnia; Chen, Feng; Fulton, David; Stepp, David; Gansevoort, Ron T; Ramesh, Ganesan

    2016-03-01

    Diabetes is the leading cause of kidney failure, accounting for >45% of new cases of dialysis. Diabetic nephropathy is characterized by inflammation, fibrosis, and oxidant stress, pathologic features that are shared by many other chronic inflammatory diseases. The cytokine IL-17A was initially implicated as a mediator of chronic inflammatory diseases, but recent studies dispute these findings and suggest that IL-17A can favorably modulate inflammation. Here, we examined the role of IL-17A in diabetic nephropathy. We observed that IL-17A levels in plasma and urine were reduced in patients with advanced diabetic nephropathy. Type 1 diabetic mice that are genetically deficient in IL-17A developed more severe nephropathy, whereas administration of low-dose IL-17A prevented diabetic nephropathy in models of type 1 and type 2 diabetes. Moreover, IL-17A administration effectively treated, prevented, and reversed established nephropathy in genetic models of diabetes. Protective effects were also observed after administration of IL-17F but not IL-17C or IL-17E. Notably, tubular epithelial cell-specific overexpression of IL-17A was sufficient to suppress diabetic nephropathy. Mechanistically, IL-17A administration suppressed phosphorylation of signal transducer and activator of transcription 3, a central mediator of fibrosis, upregulated anti-inflammatory microglia/macrophage WAP domain protein in an AMP-activated protein kinase-dependent manner and favorably modulated renal oxidative stress and AMP-activated protein kinase activation. Administration of recombinant microglia/macrophage WAP domain protein suppressed diabetes-induced albuminuria and enhanced M2 marker expression. These observations suggest that the beneficial effects of IL-17 are isoform-specific and identify low-dose IL-17A administration as a promising therapeutic approach in diabetic kidney disease.

  9. Evaluation of Flinders Technology Associates cards for collection and transport of samples for detection of Porcine reproductive and respiratory syndrome virus by reverse transcription polymerase chain reaction.

    PubMed

    Linhares, Daniel C L; Rovira, Albert; Torremorell, Montserrat

    2012-03-01

    Blood, tissue and oral fluid samples collected from experimentally infected animals and field cases were used to evaluate the safety, diagnostic sensitivity and specificity of Flinders Technology Associates (FTA) cards for Porcine reproductive and respiratory syndrome virus (PRRSV) reverse transcription polymerase chain reaction (RT-PCR) diagnostics. The analytical sensitivity of PRRSV RT-PCR from serum and oral fluids in FTA cards was reduced, although the virus could still be detected at concentrations of 10(1) and 10(3) TCID/ml, respectively. The sensitivity and specificity of PRRSV RT-PCR detection from serum, blood, and tissue samples in cards collected from experimentally infected animals were 100%. Sensitivity for oral fluids was 45% (95% CI: 19.97-73.01) compared to fresh. For field samples, sensitivity was 89% (95% CI: 77.35-95.63) and 100% (95% CI: 80.00-100) for serum and lung samples, respectively. The sensitivity was the same for samples stored in cards at room temperature or at 4ºC, and tested overnight or after 14 days. Cards inoculated with PRRSV-positive samples did not yield replicating virus after cell culture. In conclusion, FTA cards proved to be a safe, simple, and sensitive alternative method to transport serum, blood, and tissue samples for PRRSV RT-PCR diagnostics; however, a significant decrease in RT-PCR sensitivity should be expected from oral fluid samples.

  10. Aging is a simple deprivation syndrome driven by a quasi-programmed preventable and reversible drift of control system set points due to inappropriate organism-environment interaction.

    PubMed

    Khalyavkin, A V; Krutko, V N

    2014-10-01

    There are two well-known but opposing concepts of the reason for aging. The first supposes that senescence is programmed similarly to the genetic program of development from a zygote up to a mature organism. Genetically determined senile wasting is thought to be associated with the necessity to renovate the population to ensure its adaptation and survival. According to the concept of the stochastic aging (due to accumulation of occasional error and damage), there is no built-in program of aging. There is only a program of development up to the state of maturity, and then the organism should be able to maintain itself limitlessly. However, although the efficiency of repair systems is assumed to be rather high, it is less than 100%. Just this has to result in aging because of accumulation of various errors. We have continued and developed another approach that considers both programmed and stochastic concepts to be incorrect. Aging is a simple deprivation syndrome driven by preventable and even reversible drifts of control systems set points because of an inappropriate "organism-environment" interaction.

  11. Peritrophin-like protein from Litopenaeus vannamei (LvPT) involved in white spot syndrome virus (WSSV) infection in digestive tract challenged with reverse gavage

    NASA Astrophysics Data System (ADS)

    Xie, Shijun; Li, Fuhua; Zhang, Xiaojun; Zhang, Jiquan; Xiang, Jianhai

    2017-05-01

    The peritrophic membrane plays an important role in the defense system of the arthropod gut. The digestive tract is considered one of the major tissues targeted by white spot syndrome virus (WSSV) in shrimp. In this study, the nucleotide sequence encoding peritrophin-like protein of Litopenaeus vannamei (LvPT) was amplified from a yeast two-hybrid library of L. vannamei. The epitope peptide of LvPT was predicted with the GenScript OptimumAntigen™ design tool. An anti-LvPT polyclonal antibody was produced and shown to specifically bind a band at 27 kDa, identified as LvPT. The LvPT protein was expressed and its concentration determined. LvPT dsRNA (4 μg per shrimp) was used to inhibit LvPT expression in shrimp, and a WSSV challenge experiment was then performed with reverse gavage. The pleopods, stomachs, and guts were collected from the shrimp at 0, 24, 48, and 72 h post-infection (hpi). Viral load quantification showed that the levels of WSSV were significantly lower in the pleopods, stomachs, and guts of shrimp after LvPT dsRNA interference than in those of the controls at 48 and 72 hpi. Our results imply that LvPT plays an important role during WSSV infection of the digestive tract.

  12. Reverse-transcription loop-mediated isothermal amplification (RT-LAMP) assay for the visual detection of European and North American porcine reproductive and respiratory syndrome viruses.

    PubMed

    Park, Ji-Young; Park, Soojin; Park, Yu-Ri; Kang, Dae-Young; Kim, Eun-Mi; Jeon, Hyo-Sung; Kim, Ji-Jung; Kim, Won-Il; Lee, Kyung-Tai; Kim, Seong-Hee; Lee, Kyoung-Ki; Park, Choi-Kyu

    2016-11-01

    A reverse transcription loop-mediated isothermal amplification (RT-LAMP) assay for visual detection of European (EU) and North American (NA) porcine reproductive and respiratory syndrome viruses (PRRSVs) were established and evaluated with reference PRRSV strains and clinical samples. The assay was performed in two reaction tubes containing each set of primers specific for EU or NA-PRRSV at 58°C for 40min, and the results could be visually detected by the naked eye, using hydroxynaphthol blue dye. The detection limit of the assay was 1 or 0.1 TCID50/0.1mL for EU or NA PRRSV, respectively, which was comparable to that of the previously described real-time RT-PCR (qRT-PCR). The detection rate of the assay on 130 field samples was 72.3%, relatively higher than that of qRT-PCR (70.8%), and there was high overall percentage agreement between the two assays. The high specificity, sensitivity, and reliability of the RT-LAMP assay described in this study renders it useful for the rapid and differential diagnosis of EU and NA PRRSVs, even in under-equipped laboratories. Copyright © 2016 Elsevier B.V. All rights reserved.

  13. Clinical validation of 3 commercial real-time reverse transcriptase polymerase chain reaction assays for the detection of Middle East respiratory syndrome coronavirus from upper respiratory tract specimens.

    PubMed

    Mohamed, Deqa H; AlHetheel, AbdulKarim F; Mohamud, Hanat S; Aldosari, Kamel; Alzamil, Fahad A; Somily, Ali M

    2017-04-01

    Since discovery of Middle East respiratory syndrome coronavirus (MERS-CoV), a novel betacoronavirus first isolated and characterized in 2012, MERS-CoV real-time reverse transcriptase polymerase chain reaction (rRT-PCR) assays represent one of the most rapidly expanding commercial tests. However, in the absence of extensive evaluations of these assays on positive clinical material of different sources, evaluating their diagnostic effectiveness remains challenging. We describe the diagnostic performance evaluation of 3 common commercial MERS-CoV rRT-PCR assays on a large panel (n = 234) of upper respiratory tract specimens collected during an outbreak episode in Saudi Arabia. Assays were compared to the RealStar® MERS-CoV RT-PCR (Alton Diagnostics, Hamburg, Germany) assay as the gold standard. Results showed i) the TIB MolBiol® LightMix UpE and Orf1a assays (TIB MolBiol, Berlin, Germany) to be the most sensitive, followed by ii) the Anyplex™ Seegene MERS-CoV assay (Seegene, Seoul, Korea), and finally iii) the PrimerDesign™ Genesig® HCoV_2012 assay (PrimerDesign, England, United Kingdom). We also evaluate a modified protocol for the PrimerDesign™ Genesig® HCoV_2012 assay.

  14. Porcine reproductive and respiratory syndrome virus: interlaboratory ring trial to evaluate real-time reverse transcription polymerase chain reaction detection methods.

    PubMed

    Wernike, Kerstin; Bonilauri, Paolo; Dauber, Malte; Errington, Jane; LeBlanc, Neil; Revilla-Fernández, Sandra; Hjulsager, Charlotte; Isaksson, Mats; Stadejek, Tomasz; Beer, Martin; Hoffmann, Bernd

    2012-09-01

    To compare the real-time reverse transcription quantitative polymerase chain reaction (RT-qPCR) assays used for the diagnosis of Porcine reproductive and respiratory syndrome virus (PRRSV), a Europe-wide interlaboratory ring trial was conducted. A variety of PRRSV strains including North American (NA) and European (EU) genotype isolates were analyzed by the participants. Great differences regarding qualitative diagnostics as well as analytical sensitivity were observed between the individual RT-qPCR systems, especially when investigating strains from the EU genotype. None of the assays or commercial kits used in the ring trial could identify all different PRRSV strains with an optimal analytical and diagnostic sensitivity. The genetic variability of the PRRSV strains, which is supposed to hinder the diagnostic of the RT-PCR because of mutations at the primer binding sites, was also confirmed by sequencing and subsequent phylogenetic analysis. In summary, a major problem in PRRSV diagnostics by RT-qPCR is false-negative results. To achieve maximum safety in the molecular diagnosis of PRRSV, the combined usage of different assays or kits is highly recommended.

  15. IRS1 genotype modulates metabolic syndrome reversion in response to 2-year weight-loss diet intervention: the POUNDS LOST trial.

    PubMed

    Qi, Qibin; Xu, Min; Wu, Hongyu; Liang, Liming; Champagne, Catherine M; Bray, George A; Sacks, Frank M; Qi, Lu

    2013-11-01

    Genetic variants near IRS1 are associated with features of the metabolic syndrome (MetS). We examined whether genetic variants near IRS1 might modulate the effects of diets varying in fat content on the MetS status in a 2-year weight-loss trial. Two variants near IRS1, rs1522813 and rs2943641, were genotyped in 738 overweight/obese adults (age 60 ± 9 years; BMI 32.7 ± 3.9 kg/m2) randomly assigned to one of four weight-loss diets (a deficit of 750 kcal/day of caloric intake from baseline) varying in macronutrient contents for 2 years. We compared MetS status of high-fat (40% of caloric intake; n = 370) and low-fat (20% caloric intake; n = 368) diet groups differentiated by genotypes (rs1522813 A-allele carriers and noncarriers and rs2943641T-allele carriers and noncarriers). Among rs1522813 A-allele carriers, the reversion rates of the MetS were higher in the high-fat diet group than those in the low-fat diet group over the 2-year intervention (P = 0.002), while no significant difference between diet groups was observed among noncarriers (P = 0.27). The genetic modulation on dietary effect was independent of weight changes. The odds ratio (OR) for the 2-year reversion of the MetS was 2.88 (95% CI 1.25-6.67) comparing the high-fat and low-fat diets among rs1522813 A-allele carriers, while the corresponding OR was 0.83 (0.36-1.92) in noncarriers. The variant rs2943641 was not observed to modulate dietary effects on the MetS status. Our data suggest that high-fat weight-loss diets might be more effective in the management of the MetS compared with low-fat diets among individuals with the A-allele of the rs1522813 variant near IRS1.

  16. Clinical and Radiological Spectrum of Posterior Reversible Encephalopathy Syndrome: Does Age Make a Difference? – A Retrospective Comparison between Adult and Pediatric Patients

    PubMed Central

    Siebert, Eberhard; Bohner, Georg; Endres, Matthias; Liman, Thomas G.

    2014-01-01

    Background Posterior reversible encephalopathy syndrome (PRES) is a serious and increasingly recognized disorder, but data from observational studies on clinicoradiological differences between etiologies and age groups are limited. In this study, we aimed to investigate the clinical and imaging characteristics of PRES in children compared to adults in a large cohort. Methods We retrospectively reviewed the radiological report data bases between January 1999 and August 2012 for patients with PRES (total of 110 patients). Patients fulfilling the criteria for PRES after detailed investigation of clinical charts and imaging studies were separated into children (<18years) and adults (≥18years). Various imaging features at onset of symptoms and on follow-up as well as clinical and paraclinical data were analyzed. Results A total of 19 pediatric and 91 adult patients with PRES were included into the study. In pediatric PRES patients, seizures were significantly more frequent as initial PRES-related symptom (p = 0.01). In addition, in children the superior frontal sulcus topographic lesion pattern occurred as frequent as the parieto-occipital one and was significantly more prevalent than in adults (p = 0.02). In contrast, in adults visual disturbances tended to occur more frequently than in children (p = 0.05). Also, severity of edema tended to be greater in adults than in children (p = 0.07). Conclusion In our PRES cohort, we found relevant clinicoradiological differences between pediatric and adult PRES patients. However, prospective studies are warranted to establish factors that are specifically associated with pediatric PRES. PMID:25514795

  17. Comparative Evaluation of Three Homogenization Methods for Isolating Middle East Respiratory Syndrome Coronavirus Nucleic Acids From Sputum Samples for Real-Time Reverse Transcription PCR

    PubMed Central

    Yong, Dongeun; Ki, Chang-Seok; Kim, Jae-Seok; Seong, Moon-Woo; Lee, Hyukmin

    2016-01-01

    Background Real-time reverse transcription PCR (rRT-PCR) of sputum samples is commonly used to diagnose Middle East respiratory syndrome coronavirus (MERS-CoV) infection. Owing to the difficulty of extracting RNA from sputum containing mucus, sputum homogenization is desirable prior to nucleic acid isolation. We determined optimal homogenization methods for isolating viral nucleic acids from sputum. Methods We evaluated the following three sputum-homogenization methods: proteinase K and DNase I (PK-DNase) treatment, phosphate-buffered saline (PBS) treatment, and N-acetyl-L-cysteine and sodium citrate (NALC) treatment. Sputum samples were spiked with inactivated MERS-CoV culture isolates. RNA was extracted from pretreated, spiked samples using the easyMAG system (bioMérieux, France). Extracted RNAs were then subjected to rRT-PCR for MERS-CoV diagnosis (DiaPlex Q MERS-coronavirus, SolGent, Korea). Results While analyzing 15 spiked sputum samples prepared in technical duplicate, false-negative results were obtained with five (16.7%) and four samples (13.3%), respectively, by using the PBS and NALC methods. The range of threshold cycle (Ct) values observed when detecting upE in sputum samples was 31.1–35.4 with the PK-DNase method, 34.7–39.0 with the PBS method, and 33.9–38.6 with the NALC method. Compared with the control, which were prepared by adding a one-tenth volume of 1:1,000 diluted viral culture to PBS solution, the ranges of Ct values obtained by the PBS and NALC methods differed significantly from the mean control Ct of 33.2 (both P<0.0001). Conclusions The PK-DNase method is suitable for homogenizing sputum samples prior to RNA extraction. PMID:27374711

  18. Reversal of Impaired Hippocampal Long-term Potentiation and Contextual Fear Memory Deficits in Angelman Syndrome Model Mice by ErbB Inhibitors

    PubMed Central

    Kaphzan, Hanoch; Hernandez, Pepe; Jung, Joo In; Cowansage, Kiriana K.; Deinhardt, Katrin; Chao, Moses V.; Abel, Ted; Klann, Eric

    2012-01-01

    Background Angelman syndrome (AS) is a human neuropsychiatric disorder associated with autism, mental retardation, motor abnormalities, and epilepsy. In most cases, AS is caused by the deletion of the maternal copy of UBE3A gene, which encodes the enzyme ubiquitin ligase E3A, also termed E6-AP. A mouse model of AS has been generated and these mice exhibit many of the observed neurological alterations in humans. Because of clinical and neuroanatomical similarities between AS and schizophrenia, we examined AS model mice for alterations in the neuregulin-ErbB4 pathway, which has been implicated in the pathophysiology of schizophrenia. We focused our studies on the hippocampus, one of the major brain loci impaired in AS mice. Methods We determined the expression of NRG1 and ErbB4 receptors in AS mice and wild-type littermates (ages 10-16 weeks), and studied the effects of ErbB inhibition on long-term potentiation (LTP) in hippocampal area CA1 and on hippocampus-dependent contextual fear memory. Results We observed enhanced neuregulin-ErbB4 signaling in the hippocampus of AS model mice and found that ErbB inhibitors could reverse deficits in LTP, a cellular substrate for learning and memory. In addition, we found that an ErbB inhibitor enhanced long-term contextual fear memory in AS model mice. Conclusions Our findings suggest that neuregulin-ErbB4 signaling is involved in synaptic plasticity and memory impairments in AS model mice, suggesting that ErbB inhibitors have therapeutic potential for the treatment of AS. PMID:22381732

  19. Comparative Evaluation of Three Homogenization Methods for Isolating Middle East Respiratory Syndrome Coronavirus Nucleic Acids From Sputum Samples for Real-Time Reverse Transcription PCR.

    PubMed

    Sung, Heungsup; Yong, Dongeun; Ki, Chang Seok; Kim, Jae Seok; Seong, Moon Woo; Lee, Hyukmin; Kim, Mi Na

    2016-09-01

    Real-time reverse transcription PCR (rRT-PCR) of sputum samples is commonly used to diagnose Middle East respiratory syndrome coronavirus (MERS-CoV) infection. Owing to the difficulty of extracting RNA from sputum containing mucus, sputum homogenization is desirable prior to nucleic acid isolation. We determined optimal homogenization methods for isolating viral nucleic acids from sputum. We evaluated the following three sputum-homogenization methods: proteinase K and DNase I (PK-DNase) treatment, phosphate-buffered saline (PBS) treatment, and N-acetyl-L-cysteine and sodium citrate (NALC) treatment. Sputum samples were spiked with inactivated MERS-CoV culture isolates. RNA was extracted from pretreated, spiked samples using the easyMAG system (bioMérieux, France). Extracted RNAs were then subjected to rRT-PCR for MERS-CoV diagnosis (DiaPlex Q MERS-coronavirus, SolGent, Korea). While analyzing 15 spiked sputum samples prepared in technical duplicate, false-negative results were obtained with five (16.7%) and four samples (13.3%), respectively, by using the PBS and NALC methods. The range of threshold cycle (Ct) values observed when detecting upE in sputum samples was 31.1-35.4 with the PK-DNase method, 34.7-39.0 with the PBS method, and 33.9-38.6 with the NALC method. Compared with the control, which were prepared by adding a one-tenth volume of 1:1,000 diluted viral culture to PBS solution, the ranges of Ct values obtained by the PBS and NALC methods differed significantly from the mean control Ct of 33.2 (both P<0.0001). The PK-DNase method is suitable for homogenizing sputum samples prior to RNA extraction.

  20. Evaluation and Clinical Validation of Two Field-deployable Reverse Transcription-Insulated Isothermal PCR Assays for the Detection of the Middle East Respiratory Syndrome Coronavirus.

    PubMed

    Go, Yun Young; Kim, Yeon-Sook; Cheon, Shinhye; Nam, Sangwoo; Ku, Keun Bon; Kim, Meehyein; Cho, Nam Hyuk; Park, Hyun; Alison Lee, Pei-Yu; Lin, Yu-Chun; Tsai, Yun-Long; Thomas Wang, Hwa-Tang; Balasuriya, Udeni B R

    2017-08-11

    Middle East respiratory syndrome (MERS) is an emerging zoonotic viral respiratory disease that was first identified in Saudi Arabia in 2012. In 2015, the largest MERS outbreak outside of the Middle East region occurred in the Republic of Korea. The rapid nosocomial transmission of MERS-coronavirus (MERS-CoV) in Korean healthcare settings highlighted the importance and urgent need for a rapid and reliable on-site diagnostic assay to implement effective control and preventive measures. Here, we describe the evaluation and validation of two newly developed reverse transcription-insulated isothermal PCR (RT-iiPCR) methods targeting the ORF1a and upE genes of MERS-CoV. Compared to World Health Organization-recommended singleplex real-time RT-PCR (reference RT-qPCR) assays, both RT-iiPCR assays had comparable analytical sensitivity for the detection of MERS-CoV RNA in tissue culture fluid and in sputum samples spiked with infectious virus. Furthermore, clinical evaluation was performed with sputum samples collected from subjects with acute and chronic respiratory illnesses including MERS-CoV infected patients. The overall agreement values between the two RT-iiPCR assays and the reference RT-qPCR assays were 98.06% (95% CI, 94.43-100%; κ = 0.96) and 99.03% (95% CI, 95.88-100%; κ = 0.99) for ORF1a and upE assays, respectively. In conclusion, the ORF1a and upE MERS-CoV RT-iiPCR assays coupled with a field-deployable system provide a platform for a highly sensitive and specific on-site tool for diagnosis of MERS-CoV infections. Copyright © 2017. Published by Elsevier Inc.

  1. Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome.

    PubMed

    Ashman, R F; Singh, N; Lenert, P S

    2016-11-10

    MRL-Fas (lpr/lpr) mice represent an excellent animal model for studying non-malignant lymphoproliferation, regeneration and systemic autoimmunity. Retro-transposon insertion into the second intron of the pro-apoptotic Fas gene appears to be responsible for both lymphoproliferation and autoimmunity, while other genes are more likely to contribute to the regenerative healing characteristic of this mouse strain. Previous studies have shown that neonatal thymectomy can halt the development of abnormal lymphoproliferation. Whereas at four weeks of age primary and secondary lymphoid organs appear to be grossly intact, vigorous lymphoproliferation and autoantibody production subsequently ensues. This is first noticeable at six weeks of age, at which time lymph nodes, spleens and thymuses, but not the bone marrow, become infiltrated with abnormal B220(+)CD3(+)CD4(-)CD8(-) T cells. Around the same time, thymuses show a significant drop in CD4(+)CD8(+)double-positive T cells generating an abnormal ratio between double-positive and single-positive thymocytes. The objective of current study was to evaluate the effect of synthetic oligonucleotides-toll-like receptor antagonists on early lymphoid development in this strain of mice. Herein, we demonstrate the ability of synthetic oligonucleotides made with the nuclease-resistant phosphorothioate backbone to partially reverse abnormal lymphoproliferation and thymic involution in pre-diseased MRL-Fas (lpr/lpr) mice when administered intraperitoneally starting from week four of age. This curative effect of oligonucleotides was primary sequence/secondary oligonucleotide structure-independent, suggesting an effect through the toll-like receptor 7. A similar approach may potentially benefit patients with autoimmune lymphoproliferative syndrome who, like MRL-Fas (lpr/lpr) mice, carry a mutation in the Fas gene.

  2. Analytical and Clinical Validation of Six Commercial Middle East Respiratory Syndrome Coronavirus RNA Detection Kits Based on Real-Time Reverse-Transcription PCR

    PubMed Central

    Ko, Young Jin; Seong, Moon-Woo; Kim, Jae-Seok; Shin, Bo-Moon; Sung, Heungsup

    2016-01-01

    Background During the 2015 outbreak of Middle East Respiratory Syndrome coronavirus (MERS-CoV), six different commercial MERS-CoV RNA detection kits based on real-time reverse-transcription polymerase chain reaction (rRT-PCR) were available in Korea. We performed analytical and clinical validations of these kits. Methods PowerChek (Kogene Biotech, Korea), DiaPlexQ (SolGent, Korea), Anyplex (Seegene, Korea), AccuPower (Bioneer, Korea), LightMix (Roche Molecular Diagnostics, Switzerland), and UltraFast kits (Nanobiosys, Korea) were evaluated. Limits of detection (LOD) with 95% probability values were estimated by testing 16 replicates of upstream of the envelope gene (upE) and open reading frame 1a (ORF1a) RNA transcripts. Specificity was estimated by using 28 nasopharyngeal swabs that were positive for other respiratory viruses. Clinical sensitivity was evaluated by using 18 lower respiratory specimens. The sensitivity test panel and the high inhibition panel were composed of nine specimens each, including eight and six specimens that were positive for MERS-CoV, respectively. Results The LODs for upE ranged from 21.88 to 263.03 copies/reaction, and those for ORF1a ranged from 6.92 to 128.82 copies/reaction. No cross-reactivity with other respiratory viruses was found. All six kits correctly identified 8 of 8 (100%) positive clinical specimens. Based on results from the high inhibition panel, PowerChek and AccuPower were the least sensitive to the presence of PCR inhibition. Conclusions The overall sensitivity and specificity of all six assay systems were sufficient for diagnosing MERS-CoV infection. However, the analytical sensitivity and detection ability in specimens with PCR inhibition could be improved with the use of appropriate internal controls. PMID:27374710

  3. Novel agonists for serotonin 5-HT7 receptors reverse metabotropic glutamate receptor-mediated long-term depression in the hippocampus of wild-type and Fmr1 KO mice, a model of Fragile X Syndrome

    PubMed Central

    Costa, Lara; Sardone, Lara M.; Lacivita, Enza; Leopoldo, Marcello; Ciranna, Lucia

    2015-01-01

    Serotonin 5-HT7 receptors are expressed in the hippocampus and modulate the excitability of hippocampal neurons. We have previously shown that 5-HT7 receptors modulate glutamate-mediated hippocampal synaptic transmission and long-term synaptic plasticity. In particular, we have shown that activation of 5-HT7 receptors reversed metabotropic glutamate receptor-mediated long-term depression (mGluR-LTD) in wild-type (wt) and in Fmr1 KO mice, a mouse model of Fragile X Syndrome in which mGluR-LTD is abnormally enhanced, suggesting that 5-HT7 receptor agonists might be envisaged as a novel therapeutic strategy for Fragile X Syndrome. In this perspective, we have characterized the basic in vitro pharmacokinetic properties of novel molecules with high binding affinity and selectivity for 5-HT7 receptors and we have tested their effects on synaptic plasticity using patch clamp on acute hippocampal slices. Here we show that LP-211, a high affinity selective agonist of 5-HT7 receptors, reverses mGluR-LTD in wt and Fmr1 KO mice, correcting a synaptic malfunction in the mouse model of Fragile X Syndrome. Among novel putative agonists of 5-HT7 receptors, the compound BA-10 displayed improved affinity and selectivity for 5-HT7 receptors and improved in vitro pharmacokinetic properties with respect to LP-211. BA-10 significantly reversed mGluR-LTD in the CA3-CA1 synapse in wt and Fmr1KO mice, indicating that BA-10 behaved as a highly effective agonist of 5-HT7 receptors and reduced exaggerated mGluR-LTD in a mouse model of Fragile X Syndrome. On the other side, the compounds RA-7 and PM-20, respectively arising from in vivo metabolism of LP-211 and BA-10, had no effect on mGluR-LTD thus did not behave as agonists of 5-HT7 receptors in our conditions. The present results provide information about the structure-activity relationship of novel 5-HT7 receptor agonists and indicate that LP-211 and BA-10 might be used as novel pharmacological tools for the therapy of Fragile X Syndrome

  4. Novel agonists for serotonin 5-HT7 receptors reverse metabotropic glutamate receptor-mediated long-term depression in the hippocampus of wild-type and Fmr1 KO mice, a model of Fragile X Syndrome.

    PubMed

    Costa, Lara; Sardone, Lara M; Lacivita, Enza; Leopoldo, Marcello; Ciranna, Lucia

    2015-01-01

    Serotonin 5-HT7 receptors are expressed in the hippocampus and modulate the excitability of hippocampal neurons. We have previously shown that 5-HT7 receptors modulate glutamate-mediated hippocampal synaptic transmission and long-term synaptic plasticity. In particular, we have shown that activation of 5-HT7 receptors reversed metabotropic glutamate receptor-mediated long-term depression (mGluR-LTD) in wild-type (wt) and in Fmr1 KO mice, a mouse model of Fragile X Syndrome in which mGluR-LTD is abnormally enhanced, suggesting that 5-HT7 receptor agonists might be envisaged as a novel therapeutic strategy for Fragile X Syndrome. In this perspective, we have characterized the basic in vitro pharmacokinetic properties of novel molecules with high binding affinity and selectivity for 5-HT7 receptors and we have tested their effects on synaptic plasticity using patch clamp on acute hippocampal slices. Here we show that LP-211, a high affinity selective agonist of 5-HT7 receptors, reverses mGluR-LTD in wt and Fmr1 KO mice, correcting a synaptic malfunction in the mouse model of Fragile X Syndrome. Among novel putative agonists of 5-HT7 receptors, the compound BA-10 displayed improved affinity and selectivity for 5-HT7 receptors and improved in vitro pharmacokinetic properties with respect to LP-211. BA-10 significantly reversed mGluR-LTD in the CA3-CA1 synapse in wt and Fmr1KO mice, indicating that BA-10 behaved as a highly effective agonist of 5-HT7 receptors and reduced exaggerated mGluR-LTD in a mouse model of Fragile X Syndrome. On the other side, the compounds RA-7 and PM-20, respectively arising from in vivo metabolism of LP-211 and BA-10, had no effect on mGluR-LTD thus did not behave as agonists of 5-HT7 receptors in our conditions. The present results provide information about the structure-activity relationship of novel 5-HT7 receptor agonists and indicate that LP-211 and BA-10 might be used as novel pharmacological tools for the therapy of Fragile X Syndrome.

  5. Endovascular Aneurysm Repair Using a Reverse Chimney Technique in a Patient With Marfan Syndrome and Contained Ruptured Chronic Type B Dissection

    SciTech Connect

    Ketelsen, Dominik; Kalender, Guenay; Heuschmid, Martin; Syha, Roland; Mangold, Stefanie; Claussen, Claus D.; Brechtel, Klaus

    2011-10-15

    We report endovascular thoracic and abdominal aneurysm repair (EVAR) with reverse chimney technique in a patient with contained ruptured type B dissection. EVAR seems feasible as a bailout option in Marfan patients with acute life-threatening disease.

  6. Reversible dementias

    PubMed Central

    Tripathi, Manjari; Vibha, Deepti

    2009-01-01

    In recent years, more attention has been given to the early diagnostic evaluation of patients with dementia which is essential to identify patients with cognitive symptoms who may have treatable conditions. Guidelines suggest that all patients presenting with dementia or cognitive symptoms should be evaluated with a range of laboratory tests, and with structural brain imaging with computed tomography (CT) or magnetic resonance imaging (MRI). While many of the disorders reported as ‘reversible dementias’ are conditions that may well be associated with cognitive or behavioral symptoms, these symptoms are not always sufficiently severe to fulfill the clinical criteria for dementia. Thus, while the etiology of a condition may be treatable it should not be assumed that the associated dementia is fully reversible. Potentially reversible dementias should be identified and treatment considered, even if the symptoms are not sufficiently severe to meet the clinical criteria for dementia, and even if partial or full reversal of the cognitive symptoms cannot be guaranteed. In the literature, the most frequently observed potentially reversible conditions identified in patients with cognitive impairment or dementia are depression, adverse effects of drugs, drug or alcohol abuse, space-occupying lesions, normal pressure hydrocephalus, and metabolic conditions land endocrinal conditions like hypothyroidism and nutritional conditions like vitamin B-12 deficiency. Depression is by far the most common of the potentially reversible conditions. The review, hence addresses the common causes of reversible dementia and the studies published so far. PMID:21416018

  7. Reversible lacrimal gland-protective regulatory T-cell dysfunction underlies male-specific autoimmune dacryoadenitis in the non-obese diabetic mouse model of Sjögren syndrome.

    PubMed

    Lieberman, Scott M; Kreiger, Portia A; Koretzky, Gary A

    2015-06-01

    CD4(+) CD25(+) Foxp3(+) regulatory T (Treg) cells are required to maintain immunological tolerance; however, defects in specific organ-protective Treg cell functions have not been demonstrated in organ-specific autoimmunity. Non-obese diabetic (NOD) mice spontaneously develop lacrimal and salivary gland autoimmunity and are a well-characterized model of Sjögren syndrome. Lacrimal gland disease in NOD mice is male-specific, but the role of Treg cells in this sex-specificity is not known. This study aimed to determine if male-specific autoimmune dacryoadenitis in the NOD mouse model of Sjögren syndrome is the result of lacrimal gland-protective Treg cell dysfunction. An adoptive transfer model of Sjögren syndrome was developed by transferring cells from the lacrimal gland-draining cervical lymph nodes of NOD mice to lymphocyte-deficient NOD-SCID mice. Transfer of bulk cervical lymph node cells modelled the male-specific dacryoadenitis that spontaneously develops in NOD mice. Female to female transfers resulted in dacryoadenitis if the CD4(+) CD25(+) Treg-enriched population was depleted before transfer; however, male to male transfers resulted in comparable dacryoadenitis regardless of the presence or absence of Treg cells within the donor cell population. Hormone manipulation studies suggested that this Treg cell dysfunction was mediated at least in part by androgens. Surprisingly, male Treg cells were capable of preventing the transfer of dacryoadenitis to female recipients. These data suggest that male-specific factors promote reversible dysfunction of lacrimal gland-protective Treg cells and, to our knowledge, form the first evidence for reversible organ-protective Treg cell dysfunction in organ-specific autoimmunity. © 2015 John Wiley & Sons Ltd.

  8. Reversible Sterilization

    ERIC Educational Resources Information Center

    Largey, Gale

    1977-01-01

    Notes that difficult questions arise concerning the use of sterilization for alleged eugenic and euthenic purposes. Thus, how reversible sterilization will be used with relation to the poor, mentally ill, mentally retarded, criminals, and minors, is questioned. (Author/AM)

  9. Reversible Sterilization

    ERIC Educational Resources Information Center

    Largey, Gale

    1977-01-01

    Notes that difficult questions arise concerning the use of sterilization for alleged eugenic and euthenic purposes. Thus, how reversible sterilization will be used with relation to the poor, mentally ill, mentally retarded, criminals, and minors, is questioned. (Author/AM)

  10. Reversible Cardiomyopathies

    PubMed Central

    Patel, Harsh; Madanieh, Raef; Kosmas, Constantine E; Vatti, Satya K; Vittorio, Timothy J

    2015-01-01

    Cardiomyopathies (CMs) have many etiological factors that can result in severe structural and functional dysregulation. Fortunately, there are several potentially reversible CMs that are known to improve when the root etiological factor is addressed. In this article, we discuss several of these reversible CMs, including tachycardia-induced, peripartum, inflammatory, hyperthyroidism, Takotsubo, and chronic illness–induced CMs. Our discussion also includes a review on their respective pathophysiology, as well as possible management solutions. PMID:26052233

  11. Reversal of focal "misery-perfusion syndrome" by extra-intracranial arterial bypass in hemodynamic cerebral ischemia. A case study with 15O positron emission tomography.

    PubMed

    Baron, J C; Bousser, M G; Rey, A; Guillard, A; Comar, D; Castaigne, P

    1981-01-01

    Tomographic images of cerebral blood flow (CBF) and oxygen extraction fraction (OEF) using the 15O continuous inhalation technique, and positron emission tomography, were obtained from a patient with cerebral ischemia distal to an occluded left internal carotid artery. There was a focal mismatch between CBF and oxygen metabolism in the brain supplied by the middle cerebral artery where CBF was decreased and OEF increased ("misery-perfusion syndrome" as opposed to "luxury-perfusion syndrome"). These abnormalities were most marked in the parieto-occipital watershed area. After left superficial temporal to middle cerebral artery anastomosis, the clinical attacks ceased and a repeat study did not demonstrate the previous CBF and OEF abnormalities. This suggests that this pattern of abnormalities indicates potential viable tissue. The concept of "misery-perfusion" may be of some importance in the pathophysiological mechanisms of hemodynamic cerebral ischemia and serve as a rational basis for revascularization procedures.

  12. Reversible Computing

    DTIC Science & Technology

    1980-02-01

    will have been introduced. 9. Reversible celular autemata We shall assume the reader to have some familiarity with the concept of cel- lular...10003 Mr. Kin B. Thcmpson 1 copy Technical Director Information Systems Divisia.i Naval Research Laboratory (OP-91T) Technical Information Division

  13. Reverse mortgages.

    PubMed

    Farnesi, D

    1995-09-01

    Elders and their families are often caught in a financial bind when it comes to paying for much-needed home care services. Reverse mortgages may offer a solution to elderly home care clients who own their homes but have a limited income with which to maintain their independence.

  14. REVERSE OSMOSIS,

    DTIC Science & Technology

    acetate membranes. Mechanisms of the process and porous cellulose acetate membrane technology are briefly reviewed. Based on a general capillary...The reverse osmosis process is discussed with particular reference to systems involving aqueous solutions and Loeb-Sourirajan-type porous cellulose

  15. DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene

    SciTech Connect

    Ouweland, A.M.W. van den; Vries, B.B.A. de; Bakker, P.L.G.; Deelen, W.H.; Graaff, E. de; Hemel, J.O. van; Oostra, B.A.; Niermeijer, M.F.; Halley, D.J.J.

    1994-07-15

    The cloning of the FMR-1 gene and the identification of an expanded CGG repeat in DNA of fragile X patients has made reliable DNA diagnosis feasible. Southern blotting and PCR assays of the CGG repeat in an unselected series of 236 mentally retarded subjects resulted in the identification of 10 new fragile X families. Reevaluation of previously assessed fragile X families resulted in the first observation of the presence of a reversal of mutation in the FMR-1 gene. 21 refs., 1 fig., 1 tab.

  16. Vasectomy reversal.

    PubMed

    Belker, A M

    1987-02-01

    A vasovasostomy may be performed on an outpatient basis with local anesthesia, but also may be performed on an outpatient basis with epidural or general anesthesia. Local anesthesia is preferred by most of my patients, the majority of whom choose this technique. With proper preoperative and intraoperative sedation, patients sleep lightly through most of the procedure. Because of the length of time often required for bilateral microsurgical vasoepididymostomy, epidural or general anesthesia and overnight hospitalization are usually necessary. Factors influencing the preoperative choice for vasovasostomy or vasoepididymostomy in patients undergoing vasectomy reversal are considered. The preoperative planned choice of vasovasostomy or vasoepididymostomy for patients having vasectomy reversal described herein does not have the support of all urologists who regularly perform these procedures. My present approach has evolved as the data reported in Tables 1 and 2 have become available, but it may change as new information is evaluated. However, it offers a logical method for planning choices of anesthesia and inpatient or outpatient status for patients undergoing vasectomy reversal procedures.

  17. Reversible stenosis of large cerebral arteries in a patient with combined Sjögren's syndrome and neuromyelitis optica spectrum disorder.

    PubMed

    Ii, Yuichiro; Shindo, Akihiro; Sasaki, Ryogen; Naito, Yutaka; Tanaka, Keiko; Kuzuhara, Shigeki

    2008-10-01

    We report a 49-year-old woman with neuromyelitis optica (NMO) spectrum disorder coexisting with Sjögren's syndrome (SS). She presented with acute brainstem symptoms and transverse myelitis. Brain MRI showed focal high signal intensity lesions in the hypothalamus and the pontine tegmentum on T2-weighted and FLAIR images. MRA revealed stenotic changes of the bilateral middle cerebral artery (MCA), posterior cerebral arteries (PCA) and basilar artery (BA). Spinal MRI revealed hyperintense lesions within the cord extending from the T4 to the T6 level on the T2-weighted image. The patient fulfilled the clinical criteria of primary SS. In addition, anti-AQP4 antibody which is highly specific for NMO was detected in the serum at the acute phase. The patient excellently responded to IVIg while methylprednisolon pulse therapy was not effective. Follow-up MRA displayed complete resolution of the stenosis of the MCA, PCA and BA.

  18. Reversible ductus arteriosus constriction due to maternal indomethacin after fetal intervention for hypoplastic left heart syndrome with intact/restrictive atrial septum.

    PubMed

    Vogel, Melanie; Wilkins-Haug, Louise E; McElhinney, Doff B; Marshall, Audrey C; Benson, Carol B; Silva, Virginia; Tworetzky, Wayne

    2010-01-01

    Fetal cardiac intervention (FCI) has been performed at our center in selected fetuses with complex congenital heart disease since 2000. Most interventions are performed in fetuses with a ductus arteriosus (DA)-dependent circulation. Indomethacin promotes closure of the DA in newborns and in fetal life, a potentially life threatening complication in fetuses with ductus-dependent congenital heart disease. We reviewed our experience with FCI with a focus on the frequency, features, and clinical course of ductal constriction. Fetuses undergoing FCI receive comprehensive pre- and postoperative cardiac and cerebral ultrasound evaluation, approximately 24 hours before and after the procedure, including imaging of DA flow and Doppler assessment of the umbilical artery and vein, ductus venosus, and, since 2004, the middle cerebral artery. Among 113 fetuses that underwent FCI, 24 of which were older than 28 0/7 weeks gestation, 2 were found to have DA constriction due to indomethacin therapy within 24 hours of intervention. Both of these were 30-week fetuses with hypoplastic left heart syndrome and restrictive or intact atrial septum. The DA was stenotic by spectral and color Doppler, and middle cerebral and umbilical artery pulsatility indexes were depressed. After discontinuation of indomethacin, the Doppler indices improved or normalized. Close echocardiographic monitoring of fetal Doppler flow velocities is very important after fetal intervention and indomethacin treatment, as the consequences of DA constriction in a fetus with hypoplastic left heart syndrome are potentially lethal. Sonographic evaluation should include measurement of cerebral and umbilical arterial flow velocities as well as color and spectral Doppler interrogation of the DA. Copyright 2009 S. Karger AG, Basel.

  19. [Renovascular hypertension due to unilateral renal artery stenosis with hypokalemic alkalosis, the salt-losing syndrome and reversible hyperechogenicity of the contralateral kidney. A study of 2 infants].

    PubMed

    Castelló Girona, F; Yeste Fernández, D; Porta Ribera, R; Enríquez Cívicos, G

    1996-07-01

    This report describes two infants with severe arterial hypertension secondary to unilateral renal artery stenosis which was manifested by polyuria, polydipsia, hypokalemic alkalosis, hyponatremia, increased natriuresis and increased plasma values of rennin and aldosterone. On sonographic examination, the contralateral non-stenotic kidney of both patients appeared enlarged and hyperechogenic mimicking parenchymal lesion. When the patients became normotensive, their sodium and potassium balance became normal and their contralateral non-stenotic kidney also became normal in size and echogenicity. The increase of the filtration and the natriuresis observed in the contralateral non-stenotic kidney of the patients with renovascular hypertension due to renal artery stenosis might be responsible for the hyperechogenicity. When the patients became normotensive, the filtration and excretion of sodium of the contralateral kidney also became normal and the increase of echogenicity also disappeared. The reversibility of the sonographic findings suggest a functional origin.

  20. Sex reversal syndrome in the horse: four new cases of feminization in individuals carrying a 64,XY SRY negative chromosomal complement.

    PubMed

    Anaya, Gabriel; Moreno-Millán, Miguel; Bugno-Poniewierska, Monika; Pawlina, Klaudia; Membrillo, Alberto; Molina, Antonio; Demyda-Peyrás, Sebastián

    2014-12-10

    Horses are characterized as having a greater rate of chromosomal abnormalities than other species, which are mainly related to the sex chromosome pair and produce a series of different anomalies known as disorders in sexual development (DSD). In the present study, three Pura Raza Española (PRE) and one Menorquín (MEN) horses were studied and an incompatibility in their genetic and phenotypic sex were detected. Animals were karyotyped by conventional and molecular cytogenetic analyses and characterized using genomic techniques. Although all individuals, were totally unrelated, these animals had the same abnormality (64,XY SRY negative DSD) despite having an anatomically normal external mare phenotype. Therefore, this syndrome could remain undiagnosed in a large percentage of cases because the physiological and morphological symptoms are rare. In the present study, a slight gonadal dysgenesis was observed only in older individuals. Interestingly this chromosomal abnormality has been previously reported less than twenty times, and never in the PRE or MEN horses. With the present research, it is demonstrated that the use of genetic and cytogenetic diagnostic tools in veterinary practice could be an important complementary test to determine the origin of unexplained reproductive failures among horses. Copyright © 2014 Elsevier B.V. All rights reserved.

  1. Reduction of infection by inhibiting mTOR pathway is associated with reversed repression of type I interferon by porcine reproductive and respiratory syndrome virus.

    PubMed

    Liu, Qinfang; Miller, Laura C; Blecha, Frank; Sang, Yongming

    2017-06-01

    Type I interferons (IFNs) are critical in animal antiviral regulation. IFN-mediated signalling regulates hundreds of genes that are directly associated with antiviral, immune and other physiological responses. The signalling pathway mediated by mechanistic target of rapamycin (mTOR), a serine/threonine kinase regulated by IFNs, is key in regulation of cellular metabolism and was recently implicated in host antiviral responses. However, little is known about how animal type I IFN signalling coordinates immunometabolic reactions during antiviral defence. Here, using porcine reproductive and respiratory syndrome virus (PRRSV), we found that the genes in the mTOR signalling pathway were differently regulated in PRRSV-infected porcine alveolar macrophages at different activation statuses. Moreover, mTOR signalling regulated PRRSV infection in MARC-145 and primary porcine cells, in part, through modulating the production and signalling of type I IFNs. Taken together, we determined that the mTOR signalling pathway involves PRRSV infection and regulates expression and signalling of type I IFNs against viral infection. These findings suggest that the mTOR signalling pathway has a bi-directional loop with the type I IFN system and imply that some components in the mTOR signalling pathway can be utilized as targets for studying antiviral immunity and for designing therapeutic reagents.

  2. Reversal of Irritable Bowel Syndrome, Sleep Disturbance, and Fatigue With an Elimination Diet, Lifestyle Modification, and Dietary Supplements: A Case Report

    PubMed Central

    Davis, Stephanie

    2016-01-01

    Background A 53-y-old Caucasian patient presented in August 2015 with chief complaints of irritable bowel syndrome (IBS; gas/bloating, gastroesophageal reflux), fatigue, and sleep disturbances. He also noted a history of chronic sinusitis, seasonal allergies, multiple chemical sensitivities, and right knee pain (3 surgeries). His primary care physician, in 2014, diagnosed prediabetes based on an elevated hemoglobin A1c and high-sensitivity C-reactive protein, which was treated with diet and lifestyle modification. Case/Intervention In the course of 6 mo, the patient was treated using an elimination diet, lifestyle modifications, botanicals, and dietary supplements. By addressing the underlying cause of issues, his symptoms decreased and quality of life increased, resulting in the resolution of his IBS symptoms, improved sleep, and increased energy levels. Conclusion This case illustrates the potential diagnostic importance of early testing for gut microbiome imbalances and gastrointestinal infections in the management of IBS as well as the usefulness of a systems-based approach for diagnostic assessment and management of a complex chronic case. PMID:27980496

  3. Alzheimer's-related endosome dysfunction in Down syndrome is Abeta-independent but requires APP and is reversed by BACE-1 inhibition.

    PubMed

    Jiang, Ying; Mullaney, Kerry A; Peterhoff, Corrinne M; Che, Shaoli; Schmidt, Stephen D; Boyer-Boiteau, Anne; Ginsberg, Stephen D; Cataldo, Anne M; Mathews, Paul M; Nixon, Ralph A

    2010-01-26

    An additional copy of the beta-amyloid precursor protein (APP) gene causes early-onset Alzheimer's disease (AD) in trisomy 21 (DS). Endosome dysfunction develops very early in DS and AD and has been implicated in the mechanism of neurodegeneration. Here, we show that morphological and functional endocytic abnormalities in fibroblasts from individuals with DS are reversed by lowering the expression of APP or beta-APP-cleaving enzyme 1 (BACE-1) using short hairpin RNA constructs. By contrast, endosomal pathology can be induced in normal disomic (2N) fibroblasts by overexpressing APP or the C-terminal APP fragment generated by BACE-1 (betaCTF), all of which elevate the levels of betaCTFs. Expression of a mutant form of APP that cannot undergo beta-cleavage had no effect on endosomes. Pharmacological inhibition of APP gamma-secretase, which markedly reduced Abeta production but raised betaCTF levels, also induced AD-like endosome dysfunction in 2N fibroblasts and worsened this pathology in DS fibroblasts. These findings strongly implicate APP and the betaCTF of APP, and exclude Abeta and the alphaCTF, as the cause of endocytic pathway dysfunction in DS and AD, underscoring the potential multifaceted value of BACE-1 inhibition in AD therapeutics.

  4. Heritable IUGR and adult metabolic syndrome are reversible and associated with alterations in the metabolome following dietary supplementation of 1-carbon intermediates.

    PubMed

    Seferovic, Maxim D; Goodspeed, Danielle M; Chu, Derrick M; Krannich, Laura A; Gonzalez-Rodriguez, Pablo J; Cox, James E; Aagaard, Kjersti M

    2015-06-01

    Metabolic syndrome (MetS), following intrauterine growth restriction (IUGR), is epigenetically heritable. Recently, we abrogated the F2 adult phenotype with essential nutrient supplementation (ENS) of intermediates along the 1-carbon pathway. With the use of the same grandparental uterine artery ligation model, we profiled the F2 serum metabolome at weaning [postnatal day (d)21; n = 76] and adulthood (d160; n = 12) to test if MetS is preceded by alterations in the metabolome. Indicative of developmentally programmed MetS, adult F2, formerly IUGR rats, were obese (621 vs. 461 g; P < 0.0001), dyslipidemic (133 vs. 67 mg/dl; P < 0.001), and glucose intolerant (26 vs. 15 mg/kg/min; P < 0.01). Unbiased gas chromatography-mass spectrometry (GC-MS) profiling revealed 34 peaks corresponding to 12 nonredundant metabolites and 9 unknowns to be changing at weaning [false discovery rate (FDR) < 0.05]. Markers of later-in-life MetS included citric acid, glucosamine, myoinositol, and proline (P < 0.03). Hierarchical clustering revealed grouping by IUGR lineage and supplementation at d21 and d160. Weanlings grouped distinctly for ENS and IUGR by partial least-squares discriminate analysis (PLS-DA; P < 0.01), whereas paternal and maternal IUGR (IUGR(pat)/IUGR(mat), respectively) control-fed rats, destined for MetS, had a distinct metabolome at weaning (randomForest analysis; class error < 0.1) and adulthood (PLS-DA; P < 0.05). In sum, we have found that alterations in the metabolome accompany heritable IUGR, precede adult-onset MetS, and are partially amenable to dietary intervention. © FASEB.

  5. A Dietary Medium-Chain Fatty Acid, Decanoic Acid, Inhibits Recruitment of Nur77 to the HSD3B2 Promoter In Vitro and Reverses Endocrine and Metabolic Abnormalities in a Rat Model of Polycystic Ovary Syndrome.

    PubMed

    Lee, Bao Hui; Indran, Inthrani Raja; Tan, Huey Min; Li, Yu; Zhang, Zhiwei; Li, Jun; Yong, Eu-Leong

    2016-01-01

    Hyperandrogenism is the central feature of polycystic ovary syndrome (PCOS). Due to the intricate relationship between hyperandrogenism and insulin resistance in PCOS, 50%-70% of these patients also present with hyperinsulinemia. Metformin, an insulin sensitizer, has been used to reduce insulin resistance and improve fertility in women with PCOS. In previous work, we have noted that a dietary medium-chain fatty acid, decanoic acid (DA), improves glucose tolerance and lipid profile in a mouse model of diabetes. Here, we report for the first time that DA, like metformin, inhibits androgen biosynthesis in NCI-H295R steroidogenic cells by regulating the enzyme 3β-hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase type 2 (HSD3B2). The inhibitory effect on HSD3B2 and androgen production required cAMP stimulation, suggesting a mechanistic action via the cAMP-stimulated pathway. Specifically, both DA and metformin reduced cAMP-enhanced recruitment of the orphan nuclear receptor Nur77 to the HSD3B2 promoter, coupled with decreased transcription and protein expression of HSD3B2. In a letrozole-induced PCOS rat model, treatment with DA or metformin reduced serum-free testosterone, lowered fasting insulin, and restored estrous cyclicity. In addition, DA treatment lowered serum total testosterone and decreased HSD3B2 protein expression in the adrenals and ovaries. We conclude that DA inhibits androgen biosynthesis via mechanisms resulting in the suppression of HSD3B2 expression, an effect consistently observed both in vitro and in vivo. The efficacy of DA in reversing the endocrine and metabolic abnormalities of the letrozole-induced PCOS rat model are promising, raising the possibility that diets including DA could be beneficial for the management of both hyperandrogenism and insulin resistance in PCOS.

  6. Comparison of Commercial Real-Time Reverse Transcription-PCR Assays for Reliable, Early, and Rapid Detection of Heterologous Strains of Porcine Reproductive and Respiratory Syndrome Virus in Experimentally Infected or Noninfected Boars by Use of Different Sample Types

    PubMed Central

    Gerber, Priscilla F.; O'Neill, Kevin; Owolodun, Olajide; Wang, Chong; Harmon, Karen; Zhang, Jianqiang; Halbur, Patrick G.; Zhou, Lei; Meng, Xiang-Jin

    2013-01-01

    The aims of this study were to compare three commercial porcine reproductive and respiratory syndrome virus (PRRSV) real-time reverse transcription-PCR (RT-PCR) assays for detection of genetically diverse PRRSV isolates in serum, semen, blood swabs, and oral fluids collected from experimentally infected boars and to evaluate the effects of sample pooling. Six groups of three boars negative for PRRSV were each inoculated with one of six PRRSV isolates (sharing 55 to 99% nucleotide sequence identity in ORF5). Samples were collected on days −2, 1, 3, 5, 7, 14, and 21 postinoculation (p.i.) and tested by one of three commercially available real-time RT-PCR assays (VetMax from Applied Biosystems, Foster City, CA [abbreviated AB]; VetAlert from Tetracore, Rockville, MD [TC]; and AcuPig from AnDiaTec GmbH, Kornwestheim, Germany [AD]). At day 1 p.i., all assays detected at least one positive sample in each group. The highest detection rates were on days 3 and 5 p.i. Between days 1 and 7 p.i., serum samples had the highest detection rate (90%) with 100% agreement between tests, followed by blood swabs (kappa value of 0.97) and semen (kappa value of 0.80). Oral fluids had the lowest detection rates (AB, 55%; TC, 41%; AD, 46%) and the highest disagreement between kits (kappa value of 0.63). Pools of five samples did not reduce the detection rates if there was one positive sample with a large amount (cycle threshold, <30) of viral RNA in the pool. Serum and blood swab samples had shorter turnaround times for RNA extraction. The AB assay had a 1.6-times-shorter PCR time. In summary, serum and blood swabs had the best performance with highest detection rates and agreement between assays and the shortest turnaround times. PMID:23224085

  7. Metabolic syndrome targets.

    PubMed

    Smith, Steven R

    2004-10-01

    The metabolic syndrome is a cluster of easy-to-measure clinical phenotypes that serve as markers for increased risk for CVD and diabetes. There is no universal agreement as to the underlying pathophysiology of the metabolic syndrome. At its core, the metabolic syndrome is the result of energy excess; therefore treating obesity is a good strategy to reverse the clinical features of the metabolic syndrome. Hypertension is a special case, may not be part of the core pathophysiology of the metabolic syndrome, and will not be discussed. After a brief review of recent developments in the pathophysiology of the metabolic syndrome, this review will concentrate on peripheral targets in the following categories: ectopic fat and fat oxidation, intrinsic defects in substrate switching and mitochondrial biogenesis, lipolysis and lipid turnover, adipose tissue as an endocrine organ, nutrient / energy sensing systems, and inflammation. The advantages and pitfalls of these targets will be discussed with an eye towards the relevant literature.

  8. Metabolic syndrome update.

    PubMed

    Grundy, Scott M

    2016-05-01

    The metabolic syndrome is a multiplex risk factor for atherosclerotic cardiovascular disease and type 2 diabetes. It is composed of atherogenic dyslipidemia, elevated blood pressure, insulin resistance and elevated glucose, a pro-thrombotic state, and a pro-inflammatory state. Excess energy intake and concomitant obesity are the major drivers of the syndrome. Lifestyle intervention can reverse metabolic risk factors, but at times, drug therapies or bariatric surgery may be required to control more overt risk factors. Published by Elsevier Inc.

  9. Reversible Thermoset Adhesives

    NASA Technical Reports Server (NTRS)

    Mac Murray, Benjamin C. (Inventor); Tong, Tat H. (Inventor); Hreha, Richard D. (Inventor)

    2016-01-01

    Embodiments of a reversible thermoset adhesive formed by incorporating thermally-reversible cross-linking units and a method for making the reversible thermoset adhesive are provided. One approach to formulating reversible thermoset adhesives includes incorporating dienes, such as furans, and dienophiles, such as maleimides, into a polymer network as reversible covalent cross-links using Diels Alder cross-link formation between the diene and dienophile. The chemical components may be selected based on their compatibility with adhesive chemistry as well as their ability to undergo controlled, reversible cross-linking chemistry.

  10. Tubal Ligation Reversal

    MedlinePlus

    ... seal off the fallopian tubes, such as the Essure or Adiana systems, generally aren't reversible. In ... electrocautery). Some types of sterilization, such as the Essure system, are not considered reversible. Even if tubal ...

  11. Vasectomy and its reversal.

    PubMed

    Belker, A M

    1985-12-01

    Techniques, results, complications, and medicolegal aspects of vasectomy are discussed in this article. Emphasis is placed on techniques that prevent spontaneous recanalization of the ends of the vas deferens after vasectomy. Factors that affect the reversibility of vasectomy are discussed. New microsurgical techniques of vasectomy reversal are described, and results of these new techniques are compared with results of nonmicrosurgical techniques of vasectomy reversal. Indications for bypass vasoepididymostomy during vasectomy reversal procedures, as well as techniques for performing vasoepididymostomy, are discussed.

  12. Reverse Correlation in Neurophysiology

    ERIC Educational Resources Information Center

    Ringach, Dario; Shapley, Robert

    2004-01-01

    This article presents a review of reverse correlation in neurophysiology. We discuss the basis of reverse correlation in linear transducers and in spiking neurons. The application of reverse correlation to measure the receptive fields of visual neurons using white noise and m-sequences, and classical findings about spatial and color processing in…

  13. [Crush syndrome].

    PubMed

    Scapellato, S; Maria, S; Castorina, G; Sciuto, G

    2007-08-01

    Crush injuries and crush syndrome are common after natural (e.g. earthquake, land-slide, tornadoes, tsunami) or man-made catastrophes (e.g. wars, terrorist attacks), in fact the history of this disease is well reported both in earthquake rescue reviews and in military literature. However, there are instances due to conventional causes, such as building collapses, road traffic accident, accident at work or altered level of consciousness after stroke or drug overdose. These situations of ''big or small'' catastrophes can occur at any time and anywhere, for this reason every clinician should be prepared to address issues of crush syndrome quickly and aggressively. The treatment has to manage and to predict clinical conditions before they present themselves. In particular, acute renal failure is one of the few life-threatening complications that can be reversed. This article reviews the various evidences and summarizes the treatment strategies available. Fundamental targets in crush syndrome management are early aggressive hydration, urine alkalinization and, when possible, forced diuresis. Since electrolyte imbalance may be fatal due to arrhythmias secondary to hyperkalemia (especially associated with hypocalcemia), it's necessary to correct these abnormalities using insulin-glucose solution and/or potassium binders, and if nevertheless serum potassium levels remain high this serious disease will necessitate dialysis, which is often a vital procedure.

  14. Quantum Operation Time Reversal

    SciTech Connect

    Crooks, Gavin E.

    2008-03-25

    The dynamics of an open quantum system can be described by a quantum operation: A linear, complete positive map of operators. Here, I exhibit a compact expression for the time reversal of a quantum operation, which is closely analogous to the time reversal of a classical Markov transition matrix. Since open quantum dynamics are stochastic, and not, in general, deterministic, the time reversal is not, in general, an inversion of the dynamics. Rather, the system relaxes toward equilibrium in both the forward and reverse time directions. The probability of a quantum trajectory and the conjugate, time reversed trajectory are related by the heat exchanged with the environment.

  15. The eyeglass reversal.

    PubMed

    Oh, Songjoo

    2011-07-01

    Some figures, such as the Necker cube, are spontaneously reversible between alternative percepts. Before learning those skilled reversals, how do people achieve reversals for the very first time? It has been known that, in the case of a first reversal, people can be expected to see the reversal when given specific information about how the figures are ambiguous. This point was confirmed by using drawing versions of reversible figures. To demonstrate how intention plays a role in the initial reversal of a real object, a pair of regular eyeglasses, reversible in perspective, were presented to naïve observers in monocular vision. When the eyeglasses were viewed inwardly and the observers were given information that the eyeglasses could be ambiguous, they were able to easily see the reversal. When the eyeglasses were viewed outwardly, observers saw it only after they had been informed of exactly what the two alternative percepts were.Interestingly, many observers often mistakenly saw the inwardly viewed eyeglasses as placed outwardly from the beginning of the observation, while they saw the outwardly viewed eyeglasses correctly. Taking these results together, for the first reversal of a real object, the specificity of intention varies with the ambiguity of the object.

  16. [Syndromes 2. Pfeiffer syndrome].

    PubMed

    Freihofer, H P

    1998-07-01

    Acrocephalosyndactylias are syndromes characterized by abnormalities of the head (craniosynostosis), the face (hypertelorism, retromaxillism), hands and feet (cutaneous or bony syndactyly). Inheritance is autosomal dominant, but spontaneous cases are described also. The group is divided into several syndromes with varying penetrance and expressivity. As an example of an acrocephalosyndactylia is the Pfeiffer syndrome presented.

  17. Reversible autism and intellectual disability in children.

    PubMed

    Zappella, Michele

    2012-05-15

    Studies on young children with reversible autism and intellectual disability are discussed. Present evidence suggests a clear cause in a minority of cases including early institutionalization, Landau and Kleffner syndrome, and other early onset epilepsies, intrauterine rubella, and blindness. The majority of cases have normal laboratory results and some have early onset Tourette syndrome. Preliminary data of a follow-up study of this last group are reported in 15 patients suggesting the possibility of two subgroups, one represented by early onset Tourette syndrome phenotype, characterized by a positive family history, and by its appearance at the same time as regression and persistence into adolescence while the other of a different nature. Genetic studies could be of help to clarify this issue and support a diagnosis of favorable outcome in young children. Copyright © 2012 Wiley Periodicals, Inc.

  18. Reversible logic for supercomputing.

    SciTech Connect

    DeBenedictis, Erik P.

    2005-05-01

    This paper is about making reversible logic a reality for supercomputing. Reversible logic offers a way to exceed certain basic limits on the performance of computers, yet a powerful case will have to be made to justify its substantial development expense. This paper explores the limits of current, irreversible logic for supercomputers, thus forming a threshold above which reversible logic is the only solution. Problems above this threshold are discussed, with the science and mitigation of global warming being discussed in detail. To further develop the idea of using reversible logic in supercomputing, a design for a 1 Zettaflops supercomputer as required for addressing global climate warming is presented. However, to create such a design requires deviations from the mainstream of both the software for climate simulation and research directions of reversible logic. These deviations provide direction on how to make reversible logic practical.

  19. Perspective: reverse evolution.

    PubMed

    Teotónio, H; Rose, M R

    2001-04-01

    For some time, the reversibility of evolution was primarily discussed in terms of comparative patterns. Only recently has this problem been studied using experimental evolution over shorter evolutionary time frames. This has raised questions of definition, experimental procedure, and the hypotheses being tested. Experimental evolution has provided evidence for multiple population genetic mechanisms in reverse evolution, including pleiotropy and mutation accumulation. It has also pointed to genetic factors that might prevent reverse evolution, such as a lack of genetic variability, epistasis, and differential genotype-by-environment interactions. The main focus of this perspective is on laboratory studies and their relevance to the genetics of reverse evolution. We discuss reverse evolution experiments with Drosophila, bacterial, and viral populations. Field studies of the reverse evolution of melanism in the peppered moth are also reviewed.

  20. HIV-1 Reverse Transcription

    PubMed Central

    Hu, Wei-Shau; Hughes, Stephen H.

    2012-01-01

    Reverse transcription and integration are the defining features of the Retroviridae; the common name “retrovirus” derives from the fact that these viruses use a virally encoded enzyme, reverse transcriptase (RT), to convert their RNA genomes into DNA. Reverse transcription is an essential step in retroviral replication. This article presents an overview of reverse transcription, briefly describes the structure and function of RT, provides an introduction to some of the cellular and viral factors that can affect reverse transcription, and discusses fidelity and recombination, two processes in which reverse transcription plays an important role. In keeping with the theme of the collection, the emphasis is on HIV-1 and HIV-1 RT. PMID:23028129

  1. Exercise prescription to reverse frailty.

    PubMed

    Bray, Nick W; Smart, Rowan R; Jakobi, Jennifer M; Jones, Gareth R

    2016-10-01

    Frailty is a clinical geriatric syndrome caused by physiological deficits across multiple systems. These deficits make it challenging to sustain homeostasis required for the demands of everyday life. Exercise is likely the best therapy to reverse frailty status. Literature to date suggests that pre-frail older adults, those with 1-2 deficits on the Cardiovascular Health Study-Frailty Phenotype (CHS-frailty phenotype), should exercise 2-3 times a week, for 45-60 min. Aerobic, resistance, flexibility, and balance training components should be incorporated but resistance and balance activities should be emphasized. On the other hand, frail (CHS-frailty phenotype ≥ 3 physical deficits) older adults should exercise 3 times per week, for 30-45 min for each session with an emphasis on aerobic training. During aerobic, balance, and flexibility training, both frail and pre-frail older adults should work at an intensity equivalent to a rating of perceived exertion of 3-4 ("somewhat hard") on the Borg CR10 scale. Resistance-training intensity should be based on a percentage of 1-repetition estimated maximum (1RM). Program onset should occur at 55% of 1RM (endurance) and progress to higher intensities of 80% of 1RM (strength) to maximize functional gains. Exercise is the medicine to reverse or mitigate frailty, preserve quality of life, and restore independent functioning in older adults at risk of frailty.

  2. Reverse Core Engine with Thrust Reverser

    NASA Technical Reports Server (NTRS)

    Suciu, Gabriel L. (Inventor); Chandler, Jesse M. (Inventor)

    2017-01-01

    An engine system has a gas generator, a bi-fi wall surrounding at least a portion of the gas generator, a casing surrounding a fan, and the casing having first and second thrust reverser doors which in a deployed position abut each other and the bi-fi wall.

  3. Pisa Syndrome.

    PubMed

    Michel, Sáenz Farret; Arias Carrión, Oscar; Correa, Thalia Estefania Sánchez; Alejandro, Pellene Luis; Micheli, Federico

    2015-01-01

    Lateral trunk flexion is often seen in patients with Parkinson disease, sometimes coming on as a subacute phenomenon associated with medication adjustments, and in others with gradual onset that seems related to a neurodegenerative process related to the evolution of the disease.Either acute or subacute presentations seem to be pure abnormalities in the coronal plane and are usually reversible. However, a chronic form occurs often in a combined fashion with anteroposterior flexion (camptocormia), improves only partially, remains stable, or even worsens over time.The acute/subacute phenotype is the condition originally named as Pisa syndrome (PS).The pathophysiology of PS remains poorly understood, and a cholinergic-dopaminergic imbalance has been suggested as being involved in the cause of this disorder. The role of other neurotransmitters and how they become dysfunctional in PS remains to be elucidated.Specific treatments, other than discontinuing the medications responsible for the disorder, whenever possible, are undeveloped because of the unknown etiology.

  4. A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome

    SciTech Connect

    Ion, A.; Telvi, L.; Galacteros, F.; McElreavey, K.

    1996-06-01

    We describe a pedigree presenting X-linked severe mental retardation associated with multiple congenital abnormalities and 46,XY gonadal dysgenesis, leading in one family member to female gender assignment. Female carriers are unaffected. The dysmorphic features are similar to those described in the {alpha}-thalassemia and mental retardation (ATR-X) syndrome, although there is no clinical evidence of {alpha}-thalassemia in this family. In addition, the family had other clinical features not previously observed in the ATR-X syndrome, including partial optic-nerve atrophy and partial ocular albinism. Mutations in a putative DNA helicase, termed XH2, have been reported to give rise to the ATR-X syndrome. We screened the YCH2 gene for mutations in affected members of the family and identified a 4-bp deletion at an intron/exon boundary that removes an invariant 3{prime} splice-acceptor site. The mutation cosegregates with the syndrome. The genomic deletion causes missplicing of the pre-mRNA, which results in the loss of 8 bp of coding sequence, thereby generating a frameshift and a downstream premature stop codon. Our finding increases the range of clinical features associated with mutations in the XH2 gene. 17 refs., 4 figs., 2 tabs.

  5. Quantum reverse hypercontractivity

    SciTech Connect

    Cubitt, Toby; Kastoryano, Michael; Montanaro, Ashley; Temme, Kristan

    2015-10-15

    We develop reverse versions of hypercontractive inequalities for quantum channels. By generalizing classical techniques, we prove a reverse hypercontractive inequality for tensor products of qubit depolarizing channels. We apply this to obtain a rapid mixing result for depolarizing noise applied to large subspaces and to prove bounds on a quantum generalization of non-interactive correlation distillation.

  6. Clocked Thrust Reversers

    NASA Technical Reports Server (NTRS)

    Suciu, Gabriel L. (Inventor); Chandler, Jesse M. (Inventor)

    2017-01-01

    An aircraft includes a fuselage including a propulsion system supported within an aft portion. A thrust reverser is mounted proximate to the propulsion system for directing thrust in a direction to slow the aircraft. The thrust reverser directs thrust at an angle relative to a vertical plane to reduce interference on control surfaces and reduce generation of underbody lift.

  7. Reverse Transfer Student Study.

    ERIC Educational Resources Information Center

    Slark, Julie

    After a preliminary study revealed that 21% of all credit students at Santa Ana College (SAC) had previously attended a four-year institution, a further study was conducted to determine the educational interests and matriculation patterns of these reverse transfer students. A sample of 360 reverse transfer students was selected for interviews,…

  8. Ultrasonic Time Reversal Mirrors

    NASA Astrophysics Data System (ADS)

    Fink, Mathias; Montaldo, Gabriel; Tanter, Mickael

    2004-11-01

    For more than ten years, time reversal techniques have been developed in many different fields of applications including detection of defects in solids, underwater acoustics, room acoustics and also ultrasound medical imaging and therapy. The essential property that makes time reversed acoustics possible is that the underlying physical process of wave propagation would be unchanged if time were reversed. In a non dissipative medium, the equations governing the waves guarantee that for every burst of sound that diverges from a source there exists in theory a set of waves that would precisely retrace the path of the sound back to the source. If the source is pointlike, this allows focusing back on the source whatever the medium complexity. For this reason, time reversal represents a very powerful adaptive focusing technique for complex media. The generation of this reconverging wave can be achieved by using Time Reversal Mirrors (TRM). It is made of arrays of ultrasonic reversible piezoelectric transducers that can record the wavefield coming from the sources and send back its time-reversed version in the medium. It relies on the use of fully programmable multi-channel electronics. In this paper we present some applications of iterative time reversal mirrors to target detection in medical applications.

  9. Bilateral reversed palmaris longus muscle: a rare anatomical variation.

    PubMed

    Salgado, G; Cantín, M; Inzunza, O; Muñoz, A; Saez, J; Macuer, M

    2012-02-01

    We report a case of bilateral reversed palmaris longus muscle (PLM). The muscle was tendinous in its upper portion and muscular in its lower portion in both arms. This rare variation has been mentioned only once in the literature as a surgical finding. According to the literature, a reversed PLM may cause a compartment syndrome in the wrist area, carpal tunnel, and Guyon's syndrome. The described variation is also useful to the hand surgeon as a tendon graft, a tendon for transfer, or as an anatomical landmark for operations at this area.

  10. Klinefelter syndrome.

    PubMed

    Smyth, C M; Bremner, W J

    1998-06-22

    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

  11. Transient foreign accent syndrome

    PubMed Central

    Bhandari, Hanul Srinivas

    2011-01-01

    Foreign accent syndrome (FAS) is a poorly understood and studied syndrome as it is indeed a rare entity. Since its first description in 1907 by French neurologist Pierre Marie involving a patient who presented with an Alsatian accent, there are approximately only 60 cases reported in the literature. The majority of such cases of FAS have been secondary to cerebrovascular accidents. Of the cases in the literature, none report such a transitory nature of FAS. In this particular case, a 55-year-old male presented with a foreign accent. This FAS was triggered by ischemia and was reversed after a seizure, the first reported in the literature. PMID:22674099

  12. An algebra of reversible computation.

    PubMed

    Wang, Yong

    2016-01-01

    We design an axiomatization for reversible computation called reversible ACP (RACP). It has four extendible modules: basic reversible processes algebra, algebra of reversible communicating processes, recursion and abstraction. Just like process algebra ACP in classical computing, RACP can be treated as an axiomatization foundation for reversible computation.

  13. Reversible shape memory

    NASA Astrophysics Data System (ADS)

    Sheiko, Sergei; Zhou, Jing; White, Sarah; Ashby, Valerie

    2012-02-01

    An ``Achilles' heel'' of shape memory materials is that shape transformations triggered by an external stimulus are usually irreversible. Here we present a new concept of reversible transitions between two well-defined shapes by controlling hierarchic crystallization of a dual-network elastomer. The reversibility was demonstrated for different types of shape transformations including rod bending, winding of a helical coil, and widening an aperture. The distinct feature of the reversible shape alterations is that both counter-shapes are infinitely stable at a temperature of exploitation. Shape reversibility is highly desirable property in many practical applications such as non-surgical removal of a previously inserted catheter and handfree wrapping up of an earlier unraveled solar sail on a space shuttle.

  14. Reversing the arms race

    SciTech Connect

    von Hippel, F. ); Sagdeev, R.Z. )

    1992-01-01

    This paper contains proceedings of Reversing The Arms Race. Topics covered include: Verifying Reductions of Nuclear Warheads; Verifying Limits on Nuclear-Armed Cruise Missiles; and The Technical Basis for Warhead Detection.

  15. Wolfram Syndrome: Diagnosis, Management, and Treatment.

    PubMed

    Urano, Fumihiko

    2016-01-01

    Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. The prognosis of this syndrome is currently poor, and many patients die prematurely with severe neurological disabilities, raising the urgency for developing novel treatments for Wolfram syndrome. In this article, we describe natural history and etiology, provide recommendations for diagnosis and clinical management, and introduce new treatments for Wolfram syndrome.

  16. On thermodynamic and microscopic reversibility

    SciTech Connect

    Crooks, Gavin E.

    2011-07-12

    The word 'reversible' has two (apparently) distinct applications in statistical thermodynamics. A thermodynamically reversible process indicates an experimental protocol for which the entropy change is zero, whereas the principle of microscopic reversibility asserts that the probability of any trajectory of a system through phase space equals that of the time reversed trajectory. However, these two terms are actually synonymous: a thermodynamically reversible process is microscopically reversible, and vice versa.

  17. Williams syndrome

    MedlinePlus

    ... with Williams syndrome may show: A flattened nasal bridge with small upturned nose Long ridges in the ... Alternative Names Williams-Beuren syndrome Images Low nasal bridge References Morris CA. Williams syndrome. In: Pagon RA, ...

  18. Marfan Syndrome

    MedlinePlus

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

  19. Sjogren's Syndrome

    MedlinePlus

    Sjogren's syndrome Overview By Mayo Clinic Staff Sjogren's (SHOW-grins) syndrome is a disorder of your immune system ... disorders, such as rheumatoid arthritis and lupus. In Sjogren's syndrome, the mucous membranes and moisture-secreting glands of ...

  20. Hepatotoxicity of nucleoside reverse transcriptase inhibitors.

    PubMed

    Montessori, Valentina; Harris, Marianne; Montaner, Julio S G

    2003-05-01

    Hepatotoxicity is an adverse effect of all available classes of antiretrovirals, including nucleoside reverse transcriptase inhibitors (NRTI). A syndrome of hepatic steatosis and lactic acidosis has been recognized as a rare, potentially fatal complication since the advent of NRTI monotherapy in the early 1990s. Today, NRTI remain the backbone of antiretroviral combination regimens, and, with the success of current treatment strategies, exposure to two or more of these agents may occur over a number of years. Hepatic steatosis and lactic acidosis are accordingly being observed more frequently, along with a more recently recognized syndrome of chronic hyperlactatemia. These as well as other adverse effects of NRTI are mediated by inhibition of human DNA polymerase gamma, resulting in mitochondrial dysfunction in the liver and other tissues. Early recognition and intervention are essential to avert serious outcomes.

  1. Pourfour Du Petit syndrome after interscalene block

    PubMed Central

    Santhosh, Mysore Chandramouli Basappji; Pai, Rohini B.; Rao, Raghavendra P.

    2013-01-01

    Interscalene block is commonly associated with reversible ipsilateral phrenic nerve block, recurrent laryngeal nerve block, and cervical sympathetic plexus block, presenting as Horner's syndrome. We report a very rare Pourfour Du Petit syndrome which has a clinical presentation opposite to that of Horner's syndrome in a 24-year-old male who was given interscalene block for open reduction and internal fixation of fracture upper third shaft of left humerus. PMID:23956726

  2. Pourfour Du Petit syndrome after interscalene block.

    PubMed

    Santhosh, Mysore Chandramouli Basappji; Pai, Rohini B; Rao, Raghavendra P

    2013-04-01

    Interscalene block is commonly associated with reversible ipsilateral phrenic nerve block, recurrent laryngeal nerve block, and cervical sympathetic plexus block, presenting as Horner's syndrome. We report a very rare Pourfour Du Petit syndrome which has a clinical presentation opposite to that of Horner's syndrome in a 24-year-old male who was given interscalene block for open reduction and internal fixation of fracture upper third shaft of left humerus.

  3. Reversible collisionless magnetic reconnection

    SciTech Connect

    Ishizawa, A.; Watanabe, T.-H.

    2013-10-15

    Reversible magnetic reconnection is demonstrated for the first time by means of gyrokinetic numerical simulations of a collisionless magnetized plasma. Growth of a current-driven instability in a sheared magnetic field is accompanied by magnetic reconnection due to electron inertia effects. Following the instability growth, the collisionless reconnection is accelerated with development of a cross-shaped structure of current density, and then all field lines are reconnected. The fully reconnected state is followed by the secondary reconnection resulting in a weakly turbulent state. A time-reversed simulation starting from the turbulent state manifests that the collisionless reconnection process proceeds inversely leading to the initial state. During the reversed reconnection, the kinetic energy is reconverted into the original magnetic field energy. In order to understand the stability of reversed process, an external perturbation is added to the fully reconnected state, and it is found that the accelerated reconnection is reversible when the deviation of the E × B streamlines due to the perturbation is comparable with or smaller than a current layer width.

  4. Cushing's Syndrome

    MedlinePlus

    ... example, polycystic ovary syndrome can cause menstrual disturbances, weight gain beginning in adolescence, excess hair growth, and impaired insulin action and diabetes. Metabolic syndrome-a combination of ...

  5. Reversible Lithium Neurotoxicity: Review of the Literature

    PubMed Central

    Netto, Ivan

    2012-01-01

    Objective: Lithium neurotoxicity may be reversible or irreversible. Reversible lithium neurotoxicity has been defined as cases of lithium neurotoxicity in which patients recovered without any permanent neurologic sequelae, even after 2 months of an episode of lithium toxicity. Cases of reversible lithium neurotoxicity differ in clinical presentation from those of irreversible lithium neurotoxicity and have important implications in clinical practice. This review aims to study the clinical presentation of cases of reversible lithium neurotoxicity. Data Sources: A comprehensive electronic search was conducted in the following databases: MEDLINE (PubMed), 1950 to November 2010; PsycINFO, 1967 to November 2010; and SCOPUS (EMBASE), 1950 to November 2010. MEDLINE and PsycINFO were searched by using the OvidSP interface. Study Selection: A combination of the following search terms was used: lithium AND adverse effects AND central nervous system OR neurologic manifestation. Publications cited include articles concerned with reversible lithium neurotoxicity. Data Extraction: The age, sex, clinical features, diagnostic categories, lithium doses, serum lithium levels, precipitating factors, and preventive measures of 52 cases of reversible lithium neurotoxicity were extracted. Data Synthesis: Among the 52 cases of reversible lithium neurotoxicity, patients ranged in age from 10 to 80 years and a greater number were female (P = .008). Most patients had affective disorders, schizoaffective disorders, and/or depression (P < .001) and presented mainly with acute organic brain syndrome. In most cases, the therapeutic serum lithium levels were less than or equal to 1.5 mEq/L (P < .001), and dosage regimens were less than 2,000 mg/day. Specific drug combinations with lithium, underlying brain pathology, abnormal tissue levels, specific diagnostic categories, and elderly populations were some of the precipitating factors reported for reversible lithium neurotoxicity. The

  6. Reversibility of liver fibrosis.

    PubMed

    Sun, Mengxi; Kisseleva, Tatiana

    2015-09-01

    Liver fibrosis is a serious health problem worldwide, which can be induced by a wide spectrum of chronic liver injuries. However, until today, there is no effective therapy available for liver fibrosis except the removal of underlying etiology or liver transplantation. Recent studies indicate that liver fibrosis is reversible when the causative agent(s) is removed. Understanding of mechanisms of liver fibrosis regression will lead to the identification of new therapeutic targets for liver fibrosis. This review summarizes recent research progress on mechanisms of reversibility of liver fibrosis. While most of the research has been focused on HSCs/myofibroblasts and inflammatory pathways, the crosstalk between different organs, various cell types and multiple signaling pathways should not be overlooked. Future studies that lead to fully understanding of the crosstalk between different cell types and the molecular mechanism underlying the reversibility of liver fibrosis will definitely give rise to new therapeutic strategies to treat liver fibrosis.

  7. Dynamics of magnetization reversal

    NASA Astrophysics Data System (ADS)

    Safonov, Vladimir L.

    2000-03-01

    Advanced magnetic recording systems are designed for extremely high areal densities and data rate. These two aspects require both magnetization reversal at very short times (< 1 ns) and long term ( ~ 5-10 years) stability against thermal fluctuations. There are two basic physics problems associated with these requirements. The first is a characterization of thermal-dynamic reversal over very wide time range. The second is an understanding of the physics of the relaxation mechanisms. Both these subjects will be reviewed in this talk. Thermal dynamic reversal requires solution of the Landau-Lifshitz equation with fluctuations. We have solved this problem in terms of the ``random walk" dynamics of a nonlinear oscillator [1,2]. The expressions for the switching field versus pulse time are analytic and show good agreement with measurements on CrO_2. Our studies of fundamental relaxation mechanisms have involved a two step approach. First the results of computer simulations of magnetization reversal without phenomenological damping will be discussed. In this case coherent rotation of the magnetization excites spin waves during which an excess of Zeeman energy is transformed to anisotropy and exchange energies. However, for fine grains whose size is sufficiently small so that the grain magnetization is virtually uniform, non-linear spin waves cannot assist reversal [3]. A new analytic model of reversal that couples coherent rotation to impurity ions by an anisotropic exchange mechanism will be discussed. These impurity ions are assumed to relax at a very high rate to the lattice. [1] V.L.Safonov, JMMM 195, 523 (1999); J.Appl.Phys. 85, 4370 (1999). [2] V.L.Safonov, H.N.Bertram, MMM'99, CU-09. [3] V.L.Safonov, H.N.Bertram, J.Appl.Phys. 85, 5072 (1999); MMM'99, CD-11.

  8. Reverse shoulder arthroplasty.

    PubMed

    Jarrett, Claudius D; Brown, Brandon T; Schmidt, Christopher C

    2013-07-01

    The reverse shoulder arthroplasty is considered to be one of the most significant technological advancements in shoulder reconstructive surgery over the past 30 years. It is able to successfully decrease pain and improve function for patients with rotator cuff-deficient shoulders. The glenoid is transformed into a sphere that articulates with a humeral socket. The current reverse prosthesis shifts the center of rotation more medial and distal, improving the deltoid's mechanical advantage. This design has resulted in successful improvement in both active shoulder elevation and in quality of life. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. [Post-tubal ligation syndrome].

    PubMed

    Satoh, K; Osada, H

    1993-01-01

    Post-tubal ligation syndrome includes pain during intercourse, aching lower back, premenstrual tension syndrome, difficulty in menstruating, uterine hemorrhage, and absence of menstruation. The syndrome is caused by blood circulation problems in and around the Fallopian tubes and ovaries, pressure on nerves, and intrapelvic adhesion. Differentiating between this syndrome and endometritis during diagnosis and differentiating between functional hemorrhage due to hormonal abnormality and anatomical hemorrhage due to polyp or tumor is very important. Since the symptoms of this syndrome are mild, simple symptomatic treatment is sufficient in most cases. In some cases, however, desquamation surgery or reversal of tubal ligation may be necessary. Endoscopic surgery is also available. In Japan, because of widespread use of condoms and IUDs, tubal ligation is not very common.

  10. Sequential Polarity-Reversing Circuit

    NASA Technical Reports Server (NTRS)

    Labaw, Clayton C.

    1994-01-01

    Proposed circuit reverses polarity of electric power supplied to bidirectional dc motor, reversible electro-mechanical actuator, or other device operating in direction depending on polarity. Circuit reverses polarity each time power turned on, without need for additional polarity-reversing or direction signals and circuitry to process them.

  11. Sequential Polarity-Reversing Circuit

    NASA Technical Reports Server (NTRS)

    Labaw, Clayton C.

    1994-01-01

    Proposed circuit reverses polarity of electric power supplied to bidirectional dc motor, reversible electro-mechanical actuator, or other device operating in direction depending on polarity. Circuit reverses polarity each time power turned on, without need for additional polarity-reversing or direction signals and circuitry to process them.

  12. Time reversal communication system

    DOEpatents

    Candy, James V.; Meyer, Alan W.

    2008-12-02

    A system of transmitting a signal through a channel medium comprises digitizing the signal, time-reversing the digitized signal, and transmitting the signal through the channel medium. The channel medium may be air, earth, water, tissue, metal, and/or non-metal.

  13. Reversible Chemochromic Hydrogen Detectors

    NASA Technical Reports Server (NTRS)

    2008-01-01

    The Florida Solar Energy Center (FSEC), affiliated with the University of Central Florida, has invented a reversible pigment that changes from light beige to blue when exposed to hydrogen and back to light beige when exposed to atmospheric oxygen. In laboratory and environmental studies, the FSEC pigment in its tape form failed to change color adequately when exposed to hydrogen after one day of exposure at Kennedy Space Center's Beach Corrosion Test Facility. The reversible hydrogen-detecting tape also lost its ability to change color after being placed in an environmental chamber at 45 C for one day. The first attempts at extruding the reversible pigment into various polymers were unsuccessful because of the pigment's poor thermal stability. The goal of this project was to formulate a pigment with improved thermal and environmental stability for extrusion into a variety of appropriate polymer matrices. The formulation of the reversible hydrogen-detecting pigment was modified by removing one reagent and chemically modifying the hydrogen sensitive ingredient. This was intended to improve the hydrophobicity of the pigment and alter the thermal degradation mechanism.

  14. Engineering Encounters: Reverse Engineering

    ERIC Educational Resources Information Center

    McGowan, Veronica Cassone; Ventura, Marcia; Bell, Philip

    2017-01-01

    This column presents ideas and techniques to enhance your science teaching. This month's issue shares information on how students' everyday experiences can support science learning through engineering design. In this article, the authors outline a reverse-engineering model of instruction and describe one example of how it looked in our fifth-grade…

  15. Reversing Discrimination: A Perspective

    ERIC Educational Resources Information Center

    Pati, Gopal; Reilly, Charles W.

    1977-01-01

    Examines the debate over affirmative action and reverse discrimination, and discusses how and why the present dilemma has developed. Suggests that organizations can best address the problem through an honest, in-depth analysis of their organizational structure and management practices. (JG)

  16. Reversing Flow Test Facility

    NASA Astrophysics Data System (ADS)

    Roach, P. D.

    1986-04-01

    The Reversing Flow Test Facility (RFTF) is intended for the study of fluid flow and heat transfer under the reversing-flow conditions that occur in Stirling engines. The facility consists of four major parts: (1) Mechanical Drive - two cylinders with cam-driven pistons which generate the reversing gas flow, (2) Test Section - a U-shaped section containing instrumented test pieces, (3) Instruments -l high-speed transducers for measuring gas pressure and temperature, piston positions, and other system parameters, and (4) Data Acquisition System - a computer-based system able to acquire, store, display and analyze the data from the instruments. The RFTF can operate at pressures up to 8.0 MPa, hot-side temperatures to 800 deg. C, and flow-reversal frequencies to 50 Hz. Operation to data has used helium as the working gas at pressures of 3.0 and 6.0 MPa, at ambient temperature, and at frequencies from 1 to 50 Hz. The results show that both frictional and inertial parts of the pressure drop are significant in the heater, coolers and connecting tubes; the inertial part is negligible in the regenerators. In all cases, the frictional part of the pressure drop is nearly in phase with the mass flow.

  17. Language Reversion Revisited.

    ERIC Educational Resources Information Center

    De Bot, Kees; Clyne, Michael

    1989-01-01

    A longitudinal study on language maintenance and loss among Dutch-English bilinguals in Australia revealed little loss in both languages over the years. This leads to the hypothesis of a "critical threshold" that must be reached to retain the second language. First language reversion appears commonly among immigrants who did not reach this…

  18. [Dysmorphic neonatal syndrome and Ogilvie syndrome].

    PubMed

    Rendón-Medina, Marco Aurelio

    Acute colonic pseudo-obstruction, or Ogilvie syndrome, is a motility abnormality characterised by rapid and progressive dilation of the large intestine. To achieve a diagnosis it is fundamental to exclude mechanical obstruction with imaging studies such as computer axial tomography. The combined incidence of Ogilvie and dysmorphic syndrome has not been described. Female patient of 28 years old with a history of infant cerebral palsy came to emergency room with 4 days of intestinal obstruction. She had hypokalaemia that was reverted, but persisted with obstruction. Later after 72h with recovery of fluids and electrolytes and administration of prokinetics, the obstruction reversed. She was discharged with no complications. Non-invasive medical treatment solves most cases. Promising results have been achieved with neostigmine. In the event of no response to drug therapy, the next step is endoscopic treatment. Even with high recurrence this is preferred due to its lower level of complications in contrast to surgical decompression. Neonatal dysmorphic syndrome is often associated with disorders of the central nervous system. So far, there have been no reports on the incidence of this disease with Ogilvie syndrome, although 9% of cases have been described as associated with neurological events. Conservative management in this disease is the initial approach. Interventions should be reserved for when conservative treatment fails. Copyright © 2015 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

  19. Reversible obstructive hydrocephalus from hypertensive encephalopathy.

    PubMed

    Kumar, Abhay; Keyrouz, Salah G; Willie, Jon T; Dhar, Rajat

    2012-06-01

    Diffuse edema involving the posterior fossa may be seen with hypertensive encephalopathy and has rarely been reported to cause hydrocephalus. We present three such cases and review the literature to better delineate this uniquely reversible syndrome. Case reports and review of literature. Three patients with hypertensive encephalopathy presented to our institutions with clinical and radiographic features of obstructive hydrocephalus associated with brainstem and cerebellar edema. This required transient external drainage of cerebrospinal fluid (CSF) in two of the three patients. However, with recognition of this unusual syndrome and aggressive management of elevated blood pressure, both edema and hydrocephalus resolved. All patients made complete recoveries and did not require permanent CSF shunting. A review of the literature yielded 15 additional case reports describing reversible obstructive hydrocephalus related to hypertensive encephalopathy. All had mean arterial pressures above 130 mmHg and presented primarily with altered mental status. While half required ventriculostomy, only one required shunting. Excluding a patient who died from sepsis, all recovered neurologically once blood pressure was controlled. It is imperative to recognize such cases where hypertension causes edema within the posterior fossa resulting in secondary hydrocephalus. Focusing management on lowering blood pressure avoids unnecessary or prolonged CSF diversion.

  20. A reverse transcriptase ribozyme.

    PubMed

    Joyce, Gerald F; Samanta, Biswajit

    2017-09-26

    A highly evolved RNA polymerase ribozyme was found to also be capable of functioning as a reverse transcriptase, an activity that has never been demonstrated before for RNA. This activity is thought to have been crucial for the transition from RNA to DNA genomes during the early history of life on Earth, when it similarly could have arisen as a secondary function of an RNA-dependent RNA polymerase. The reverse transcriptase ribozyme can incorporate all four dNTPs and can generate products containing up to 32 deoxynucleotides. It is likely that this activity could be improved through evolution, ultimately enabling the synthesis of complete DNA genomes. DNA is much more stable compared to RNA and thus provides a larger and more secure repository for genetic information.

  1. Gridded electron reversal ionizer

    NASA Technical Reports Server (NTRS)

    Chutjian, Ara (Inventor)

    1993-01-01

    A gridded electron reversal ionizer forms a three dimensional cloud of zero or near-zero energy electrons in a cavity within a filament structure surrounding a central electrode having holes through which the sample gas, at reduced pressure, enters an elongated reversal volume. The resultant negative ion stream is applied to a mass analyzer. The reduced electron and ion space-charge limitations of this configuration enhances detection sensitivity for material to be detected by electron attachment, such as narcotic and explosive vapors. Positive ions may be generated by generating electrons having a higher energy, sufficient to ionize the target gas and pulsing the grid negative to stop the electron flow and pulsing the extraction aperture positive to draw out the positive ions.

  2. Reversible Aggregation of Albumin

    NASA Astrophysics Data System (ADS)

    Colby, Ralph H.; Oates, Katherine M. N.; Krause, Wendy E.; Jones, Ronald L.

    2004-03-01

    We explore the interactions in synovial fluid involving the polyelectrolyte sodium hyaluronate (NaHA) and plasma proteins in their native state (albumin and globulins). Rheological measurements on synovial fluid show it to be highly viscoelastic and also rheopectic (stress increases with time in steady shear). Equilibrium dialysis confirms the findings of Ogston and Dubin that there is no association between NaHA and albumin at physiological pH and salt. What we find instead is a reversible aggregation of albumin, with an association energy of order 3kT and commensurate association lifetime of order microseconds. Certain anti-inflammatory drugs are shown to prevent this reversible aggregation. The implications of these findings for synovial fluid and blood rheology are discussed.

  3. Reversing Glass Wettability

    NASA Technical Reports Server (NTRS)

    Frazier, D. O.; Smith, J. E., Jr.; Kaukler, W. F.

    1985-01-01

    Treatment reverses wettability of glassware: Liquids that normally wet glass no longer do, and those that do not wet glass are made to do so. Useful in research on container effects in nucleation and growth of secondary phase from solution. Treatment consists of spreading 3 percent (by weight) solution of silicone oil in hexane isomers over glass, drying in air, and curing at 300 degrees C in vacuum for one hour.

  4. URCHIN: Reverse ray tracer

    NASA Astrophysics Data System (ADS)

    Altay, Gabriel; Theuns, Tom

    2014-12-01

    URCHIN is a Smoothed Particle Hydrodynamics (SPH) reverse ray tracer (i.e. from particles to sources). It calculates the amount of shielding from a uniform background that each particle experiences. Preservation of the adaptive density field resolution present in many gas dynamics codes and uniform sampling of gas resolution elements with rays are two of the benefits of URCHIN; it also offers preservation of Galilean invariance, high spectral resolution, and preservation of the standard uniform UV background in optically thin gas.

  5. 49 CFR 230.89 - Reverse gear.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... Reversing Gear § 230.89 Reverse gear. (a) General provisions. Reverse gear, reverse levers, and quadrants shall be maintained in a safe and suitable condition for service. Reverse lever latch shall be so...

  6. 49 CFR 230.89 - Reverse gear.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... Reversing Gear § 230.89 Reverse gear. (a) General provisions. Reverse gear, reverse levers, and quadrants shall be maintained in a safe and suitable condition for service. Reverse lever latch shall be so...

  7. 49 CFR 230.89 - Reverse gear.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... Reversing Gear § 230.89 Reverse gear. (a) General provisions. Reverse gear, reverse levers, and quadrants shall be maintained in a safe and suitable condition for service. Reverse lever latch shall be so...

  8. 49 CFR 230.89 - Reverse gear.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... Reversing Gear § 230.89 Reverse gear. (a) General provisions. Reverse gear, reverse levers, and quadrants shall be maintained in a safe and suitable condition for service. Reverse lever latch shall be so...

  9. 49 CFR 230.89 - Reverse gear.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... Reversing Gear § 230.89 Reverse gear. (a) General provisions. Reverse gear, reverse levers, and quadrants shall be maintained in a safe and suitable condition for service. Reverse lever latch shall be so...

  10. Time reversal interactive objects

    NASA Astrophysics Data System (ADS)

    Ing, Ros Ki; Quieffin, Nicolas; Catheline, Stefan; Fink, Mathias

    2001-05-01

    Time reversal has shown to be a fruitful concept in nondestructive testing in underwater acoustic or in ultrasonic imaging. In this paper this technique is adapted in the audible range to transform every day objects into tactile sensitive interfaces. A quick historical background is presented in the ultrasonic field and specially in chaotic cavity. In all time reversal experiments, it is demonstrated that a wave field spatially and temporally recorded is able to back propagate to its source. In other words, the field contains all the information on the location of the source. In the interactive experiments, it is shown that touching an object like a window, a table or a world globe generates an acoustic field easily detectable with one or two acoustic sensors. Using the concept of time reversal, the source location is deduced in real time. Then, touching objects at specific locations (virtual switches) is used to activate devices. Such devices are for example lights, stereo volume, or computer software. From a technical point of view, all these interactive experiments just use some computation easily performed with a standard personnel computer.

  11. Reversible hysteresis loop tuning

    NASA Astrophysics Data System (ADS)

    Berger, A.; Binek, Ch.; Margulies, D. T.; Moser, A.; Fullerton, E. E.

    2006-02-01

    We utilize antiferromagnetically coupled bilayer structures to magnetically tune hysteresis loop properties. Key element of this approach is the non-overlapping switching field distribution of the two magnetic layers that make up the system: a hard magnetic CoPtCrB layer (HL) and a soft magnetic CoCr layer (SL). Both layers are coupled antiferromagnetically through an only 0.6-nm-thick Ru interlayer. The non-overlapping switching field distribution allows the measurement of magnetization reversal in the SL at low fields while keeping the magnetization state of the HL unperturbed. Applying an appropriate high field or high field sequence changes the magnetic state of the HL, which then influences the SL magnetization reversal due to the interlayer coupling. In this way, the position and shape of the SL hysteresis loop can be changed or tuned in a fully reversible and highly effective manner. Here, we study specifically how the SL hysteresis loop characteristics change as we move the HL through an entire high field hysteresis loop sequence.

  12. Angular gyrus syndrome mimicking depressive pseudodementia.

    PubMed

    Nagaratnam, Nages; Phan, Tai Anh; Barnett, Claire; Ibrahim, Neamat

    2002-09-01

    A 67-year-old left-handed woman with a diagnosis of pseudodementia was being treated for depression with little benefit. Neuropsychological evaluations revealed features of angular gyrus syndrome, namely, agraphia, alexia, Gerstmann's syndrome and behavioural manifestations such as depression, poor memory, frustration and irritability. A computed tomographic scan showed a right occipito-temporal infarction, which had occurred 18 months earlier. The patient demonstrated aspects of language dysfunction associated with the syndrome and showed reversed lateralization of cerebral functions. Recognizing and distinguishing between angular gyrus syndrome and depression is important because the appropriate therapies differ. The use of the term pseudodementia can be misleading.

  13. Attempted reversible sympathetic ganglion block by an implantable neurostimulator.

    PubMed

    Kopelman, Doron; Costa, Mario G; Bejar, Jacob; Zaretsky, Asaph; Hashmonai, Moshe

    2012-05-01

    Primary palmar hyperhidrosis is a pathological condition of excessive perspiration of the hands of unknown aetiology. The only effective treatment for permanent cure is the ablation of the sympathetic ganglia supplying the hands. One of the sequelae is compensatory sweating, namely increased perspiration in other parts of the body. Its mechanism is unknown. In a small proportion of patients, it may attend devastating proportions. It has practically no remedy, and the degree of compensatory hyperhidrosis is unpredictable prior to sympathectomy. The purpose of the present study was to obtain a reversible sympathetic block which may disclose subjects prone to develop severe compensatory hyperhidrosis and unfit for permanent ganglionic ablation. In three dogs, an experimental electrode was implanted via a left thoracotomy on the stellate ganglion, connected to a stimulator. The stimulation was activated after recovery. The contralateral ganglion served as control. Effect of the stimulation was assessed by observing the development of Horner's syndrome, which includes the appearance of miosis, ptosis and enophthalmus. Reversal of the sympathetic block was expected when the neurostimulation was discontinued and assessed by the disappearance of these signs. Stimulation produced only a partial effect - an incomplete Horner's syndrome (miosis and sometime ptosis), which was not completely reversible after ceasing the stimulation. Although neurostimulation achieved a partial sympathetic block, the present method failed to obtain a completely reversible effect. However, these results may indicate that different nervous pathways moderate the various components of the Horner's triad. Concerning the creation of a reversible sympathectomy; other approaches must be sought after.

  14. Intrathecal baclofen withdrawal: A rare cause of reversible cardiomyopathy.

    PubMed

    Awuor, Stephen O; Kitei, Paul M; Nawaz, Yassir; Ahnert, Amy M

    2016-03-01

    Baclofen is commonly used to treat spasticity of central etiology. Unfortunately, a potentially lethal withdrawal syndrome can complicate its use. This is especially true when the drug is administered intrathecally. There are very few cases of baclofen withdrawal leading to reversible cardiomyopathy described in the literature. The authors present a patient with a history of chronic intrathecal baclofen use who, in the setting of acute baclofen withdrawal, develops laboratory, electrocardiogram, and echocardiogram abnormalities consistent with cardiomyopathy. Upon reinstitution of intrathecal baclofen, the cardiomyopathy and associated abnormalities quickly resolve. Although rare, it is crucial to be aware of this reversible cardiomyopathy to ensure its prompt diagnosis and treatment.

  15. Reversible brazing process

    SciTech Connect

    Pierce, J.D.; Stephens, J.J.; Walker, C.A.

    1999-09-14

    A method of reversibly brazing surfaces together is disclosed. An interface is affixed to each surface. The interfaces can be affixed by processes such as mechanical joining, welding, or brazing. The two interfaces are then brazed together using a brazing process that does not defeat the surface to interface joint. Interfaces of materials such as Ni-200 can be affixed to metallic surfaces by welding or by brazing with a first braze alloy. The Ni-200 interfaces can then be brazed together using a second braze alloy. The second braze alloy can be chosen so that it minimally alters the properties of the interfaces to allow multiple braze, heat and disassemble, rebraze cycles.

  16. Reversible brazing process

    DOEpatents

    Pierce, Jim D.; Stephens, John J.; Walker, Charles A.

    1999-01-01

    A method of reversibly brazing surfaces together. An interface is affixed to each surface. The interfaces can be affixed by processes such as mechanical joining, welding, or brazing. The two interfaces are then brazed together using a brazing process that does not defeat the surface to interface joint. Interfaces of materials such as Ni-200 can be affixed to metallic surfaces by welding or by brazing with a first braze alloy. The Ni-200 interfaces can then be brazed together using a second braze alloy. The second braze alloy can be chosen so that it minimally alters the properties of the interfaces to allow multiple braze, heat and disassemble, rebraze cycles.

  17. Reversal bending fatigue testing

    DOEpatents

    Wang, Jy-An John; Wang, Hong; Tan, Ting

    2014-10-21

    Embodiments for apparatuses for testing reversal bending fatigue in an elongated beam are disclosed. Embodiments are configured to be coupled to first and second end portions of the beam and to apply a bending moment to the beam and create a pure bending condition in an intermediate portion of the beam. Embodiments are further configured to cyclically alternate the direction of the bending moment applied to the beam such that the intermediate portion of the beam cyclically bends in opposite directions in a pure bending condition.

  18. Metabolic syndrome

    MedlinePlus

    Insulin resistance syndrome; Syndrome X ... middle and upper parts of the body (central obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced in the pancreas. ...

  19. Marfan Syndrome

    MedlinePlus

    ... Like for Kids With Marfan Syndrome? en español Síndrome de Marfan Evan couldn't wait for school ... for Marfan syndrome runs in families, getting passed down to children from parents who have the disease. ...

  20. Dumping Syndrome

    MedlinePlus

    ... Syndrome Related Topics Section Navigation Digestive Diseases Abdominal Adhesions Acid Reflux (GER & GERD) in Adults Definition & Facts ... Eating, Diet, & Nutrition Clinical Trials Cyclic Vomiting Syndrome Dental Enamel Defects and Celiac Disease Dermatitis Herpetiformis Dermatitis ...

  1. Aicardi Syndrome

    MedlinePlus

    ... Girls with Aicardi syndrome have varying degrees of intellectual disability and developmental delay. Many girls also have developmental ... Girls with Aicardi syndrome have varying degrees of intellectual disability and developmental delay. Many girls also have developmental ...

  2. Malabsorption Syndromes

    MedlinePlus

    ... the foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include Celiac disease Lactose intolerance Short bowel ...

  3. Rett Syndrome

    MedlinePlus

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

  4. Horner syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000708.htm Horner syndrome To use the sharing features on this page, please enable JavaScript. Horner syndrome is a rare condition that affects the nerves ...

  5. Marfan Syndrome

    MedlinePlus

    ... Like for Kids With Marfan Syndrome? en español Síndrome de Marfan Evan couldn't wait for school ... for Marfan syndrome runs in families, getting passed down to children from parents who have the disease. ...

  6. Down Syndrome

    MedlinePlus

    ... cells is caused by abnormal cell division after fertilization. Translocation Down syndrome. Down syndrome can also occur ... one option available for couples undergoing in vitro fertilization who are at increased risk of passing along ...

  7. LEOPARD syndrome

    MedlinePlus

    LEOPARD syndrome is a very rare inherited disorder in which there are problems with the skin, face, ... LEOPARD syndrome is inherited as an autosomal dominant trait. This means the person only needs the abnormal ...

  8. Myelodysplastic Syndromes

    MedlinePlus

    ... help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy ... can lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are ...

  9. Klinefelter Syndrome

    MedlinePlus

    ... testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, ... caused by Klinefelter syndrome are related to low testosterone (hypogonadism). Testosterone replacement therapy reduces the risk of ...

  10. Alport syndrome

    MedlinePlus

    ... Autosomal dominant Alport syndrome (ADAS) -- This is the rarest type. Males and females have equally severe disease. Symptoms KIDNEYS With all types of Alport syndrome the kidneys are affected. The tiny blood vessels in the glomeruli of the kidneys are ...

  11. Turner Syndrome

    MedlinePlus

    ... at increased risk of developing weak, brittle bones (osteoporosis). Pregnancy complications. Most women with Turner syndrome are infertile. ... loss, eye problems, high blood pressure, diabetes and osteoporosis. Periodic ... Pregnancy and fertility treatment Few women with Turner syndrome ...

  12. Marfan syndrome

    MedlinePlus

    Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders ... Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role ...

  13. Apert Syndrome.

    PubMed

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  14. Turcot Syndrome

    MedlinePlus

    ... types of brain tumors in Turcot syndrome are: Glioblastoma . This type of brain tumor is a very ... to generation in a family. In families with glioblastoma and other features of Lynch syndrome, mutations (alterations) ...

  15. Proteus Syndrome

    MedlinePlus

    ... Donate Cash Donation Life Insurance Gift Matching Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome ... approved by the Proteus Syndrome Foundation Assessment and management of the orthopedic and other complications of Proteus ...

  16. Edwards' syndrome.

    PubMed

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  17. Turner Syndrome

    MedlinePlus

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  18. Craniofacial Syndrome Descriptions

    MedlinePlus

    ... Dysplasia Goldenhar/Hemifacial Moebius syndrome Pfeiffer syndrome Pierre Robin Sequence Treacher Collins syndrome Other syndromes Wonder News & ... absence of the radial limb. Pfeiffer syndrome Pierre Robin Sequence Saethre-Chotzen Saethre-Chotzen syndrome is a ...

  19. Reversal of sterilisation.

    PubMed

    Cartwright, A

    1977-09-03

    It is difficult to know what conclusions one can reach in a study of 103 women who asked for reversal of sterilization (Mr. R.M.L. Winston, July 30, p. 305) when there are no data about the numbers and characteristics of the women who were sterilized and have not asked for reversal. And Mr. Winston's conclusion that it "seems unwise to sterilise women under 30 particularly immediately after pregnancy or if their marriage is in jeopardy" is therefore difficult to justify and has a disconcertingly paternalistic ring. It also implies that the stability or otherwise of a marriage should be a prime concern of obstetricians when women request sterilization. But what distrubed me most about Mr. Winston's article was his statement that "most women in this survey had been told that termination would not be undertaken without sterilisation." I wonder if this form of ultimatum, which Mr. Winston condemns, is likely to increase now that this operation is performed under a fee-for-service system?

  20. Reverse Engineering Molecular Hypergraphs

    PubMed Central

    Rahman, Ahsanur; Poirel, Christopher L.; Badger, David J.; Estep, Craig; Murali, T.M.

    2014-01-01

    Analysis of molecular interaction networks is pervasive in systems biology. This research relies almost entirely on graphs for modeling interactions. However, edges in graphs cannot represent multiway interactions among molecules, which occur very often within cells. Hypergraphs may be better representations for networks having such interactions, since hyperedges can naturally represent relationships among multiple molecules. Here, we propose using hypergraphs to capture the uncertainty inherent in reverse engineering gene-gene networks. Some subsets of nodes may induce highly varying subgraphs across an ensemble of networks inferred by a reverse engineering algorithm. We provide a novel formulation of hyperedges to capture this uncertainty in network topology. We propose a clustering-based approach to discover hyperedges. We show that our approach can recover hyperedges planted in synthetic data sets with high precision and recall, even for moderate amount of noise. We apply our techniques to a data set of pathways inferred from genetic interaction data in S. cerevisiae related to the unfolded protein response. Our approach discovers several hyperedges that capture the uncertain connectivity of genes in relevant protein complexes, suggesting that further experiments may be required to precisely discern their interaction patterns. We also show that these complexes are not discovered by an algorithm that computes frequent and dense subgraphs. PMID:24384702